{"disease": {"name": "Acute lymphoblastic leukemia", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "bll"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 2, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "amplification", "deep deletion"], "genes": [{"gene": "CD19", "alteration_types": ["amplification", "deep deletion"], "altered": 0, "tested": 137, "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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 0/137 patients (0.0%).", "Largest alteration is amplification: 1/682 (0.15%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.5, "width": 1.0, "reference": 0.5, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 682, "frequency": 0.15, "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": "CD22", "alteration_types": ["deep deletion"], "altered": 0, "tested": 137, "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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 0/137 patients (0.0%).", "Largest alteration is deep deletion: 5/682 (0.73%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.43, "width": 1.0, "reference": 2.43, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 5, "tested": 682, "frequency": 0.73, "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": "ABL1", "alteration_types": ["amplification", "deep deletion"], "altered": 0, "tested": 137, "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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 0/137 patients (0.0%).", "Largest alteration is deep deletion: 7/682 (1.03%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.43, "width": 1.0, "reference": 3.43, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 7, "tested": 682, "frequency": 1.03, "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": "IKZF1", "alteration_types": ["deep deletion"], "altered": 0, "tested": 137, "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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 0/137 patients (0.0%).", "Largest alteration is deep deletion: 96/682 (14.08%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 46.93, "width": 1.0, "reference": 46.93, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 96, "tested": 682, "frequency": 14.08, "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": "CDKN2A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 1, "tested": 137, "frequency": 0.73, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.73}, "major_variants": ["X51_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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 1/137 patients (0.73%).", "Largest alteration is deep deletion: 271/682 (39.74%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 1, "tested": 137, "frequency": 0.73, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 271, "tested": 682, "frequency": 39.74, "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": "NOTCH1", "alteration_types": ["amplification", "deep deletion"], "altered": 0, "tested": 137, "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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 0/137 patients (0.0%).", "Largest alteration is amplification: 12/682 (1.76%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.87, "width": 1.0, "reference": 5.87, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 12, "tested": 682, "frequency": 1.76, "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": "KMT2A", "alteration_types": [], "altered": 0, "tested": 137, "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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 0/137 patients (0.0%).", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 137, "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": "ETV6", "alteration_types": ["amplification", "deep deletion"], "altered": 0, "tested": 137, "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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 0/137 patients (0.0%).", "Largest alteration is deep deletion: 79/682 (11.58%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 38.6, "width": 1.0, "reference": 38.6, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 79, "tested": 682, "frequency": 11.58, "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": "PAX5", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 2, "frequency_range": {"min": 1.46, "max": 3.53}, "major_variants": ["V26G (n=1)", "I41T (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Largest alteration is deep deletion: 87/682 (12.76%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 3, "tested": 85, "frequency": 3.53, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 42.53, "width": 1.0, "reference": 42.53, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 87, "tested": 682, "frequency": 12.76, "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": "CRLF2", "alteration_types": [], "altered": 0, "tested": 137, "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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 0/137 patients (0.0%).", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 0, "tested": 137, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 137, "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": "JAK2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 5, "tested": 137, "frequency": 3.65, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 3.65}, "major_variants": ["R683S (n=3)", "D873N (n=2)", "R683G (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 5/137 patients (3.65%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 5, "tested": 137, "frequency": 3.65, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 12.17, "reference": 12.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 137, "frequency": 3.65, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 6, "tested": 137, "frequency": 4.38, "cohort_count": 2, "frequency_range": {"min": 2.35, "max": 4.38}, "major_variants": ["R248Q (n=2)", "G245S (n=1)", "R158C (n=1)", "C176Y (n=1)", "R273P (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 6/137 patients (4.38%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 6, "tested": 137, "frequency": 4.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 2, "tested": 85, "frequency": 2.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.83, "width": 6.77, "reference": 14.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 137, "frequency": 4.38, "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": 137, "frequency": 11.68, "cohort_count": 2, "frequency_range": {"min": 9.41, "max": 11.68}, "major_variants": ["G12D (n=6)", "G12A (n=4)", "G13D (n=2)", "Q61P (n=1)", "G12S (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 16/137 patients (11.68%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 16, "tested": 137, "frequency": 11.68, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 8, "tested": 85, "frequency": 9.41, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.37, "width": 7.56, "reference": 38.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 16, "tested": 137, "frequency": 11.68, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KRAS", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 8, "tested": 137, "frequency": 5.84, "cohort_count": 2, "frequency_range": {"min": 5.84, "max": 12.94}, "major_variants": ["G12D (n=4)", "G13D (n=2)", "G12S (n=1)", "G12V (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 8/137 patients (5.84%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 8, "tested": 137, "frequency": 5.84, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 11, "tested": 85, "frequency": 12.94, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.47, "width": 23.66, "reference": 19.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 137, "frequency": 5.84, "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", "deep deletion"], "altered": 6, "tested": 137, "frequency": 4.38, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 4.38}, "major_variants": ["G60V (n=1)", "A72T (n=1)", "E69K (n=1)", "S502P (n=1)", "D61N (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 6/137 patients (4.38%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 6, "tested": 137, "frequency": 4.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 14.6, "reference": 14.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 137, "frequency": 4.38, "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": "CREBBP", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 6, "tested": 137, "frequency": 4.38, "cohort_count": 2, "frequency_range": {"min": 1.18, "max": 4.38}, "major_variants": ["R1446C (n=3)", "R1446H (n=1)", "P1494A (n=1)", "R1360* (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 6/137 patients (4.38%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 6, "tested": 137, "frequency": 4.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 1, "tested": 85, "frequency": 1.18, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.93, "width": 10.67, "reference": 14.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 137, "frequency": 4.38, "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": "NSD2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 5, "tested": 137, "frequency": 3.65, "cohort_count": 2, "frequency_range": {"min": 1.18, "max": 3.65}, "major_variants": ["E1099K (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 5/137 patients (3.65%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 5, "tested": 137, "frequency": 3.65, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 1, "tested": 85, "frequency": 1.18, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.93, "width": 8.24, "reference": 12.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 137, "frequency": 3.65, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FLT3", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 5, "tested": 137, "frequency": 3.65, "cohort_count": 2, "frequency_range": {"min": 3.65, "max": 5.88}, "major_variants": ["Q580P (n=1)", "D835V (n=1)", "L576P (n=1)", "M837T (n=1)", "Y842C (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 5/137 patients (3.65%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 5, "tested": 137, "frequency": 3.65, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 5, "tested": 85, "frequency": 5.88, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.17, "width": 7.43, "reference": 12.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 137, "frequency": 3.65, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NOTCH2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 4, "tested": 137, "frequency": 2.92, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.92}, "major_variants": ["A21T (n=4)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 4/137 patients (2.92%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 4, "tested": 137, "frequency": 2.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 9.73, "reference": 9.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 137, "frequency": 2.92, "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": "CDK11A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 4, "tested": 137, "frequency": 2.92, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.92}, "major_variants": ["H112R (n=2)", "V97A (n=2)", "C109R (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 4/137 patients (2.92%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 4, "tested": 137, "frequency": 2.92, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 9.73, "reference": 9.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 137, "frequency": 2.92, "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": "TAS2R19", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.19}, "major_variants": ["F290S (n=2)", "G282R (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 3/137 patients (2.19%).", "Largest alteration is deep deletion: 32/682 (4.69%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.63, "width": 1.0, "reference": 15.63, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 32, "tested": 682, "frequency": 4.69, "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": "QRICH2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.19}, "major_variants": ["I630_G639del (n=1)", "G724V (n=1)", "W456R (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 3/137 patients (2.19%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 7.3, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "OVGP1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.19}, "major_variants": ["S511P (n=3)", "Y514H (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 3/137 patients (2.19%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 7.3, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2D", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.19}, "major_variants": ["K287Dfs*2 (n=1)", "R5432W (n=1)", "Q170Afs*49 (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 3/137 patients (2.19%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 3, "tested": 137, "frequency": 2.19, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 7.3, "reference": 7.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 137, "frequency": 2.19, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "HLA-C", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 3, "tested": 137, "frequency": 2.19, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 2.19}, "major_variants": ["R121W (n=3)"], "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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 3/137 patients (2.19%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 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"altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "UBR4", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.46}, "major_variants": ["S1622* (n=1)", "S4117P (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 4.87, "reference": 4.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 137, "frequency": 1.46, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TBL3", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.46}, "major_variants": ["E294Q (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", 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"frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RBM19", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.46}, "major_variants": ["K259R (n=1)", "H609R (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": 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false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": 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"https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": 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"all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II 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"all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II 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"source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, 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"patient-level, non-silent calls, panel-aware denominator", "genome_build": "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 · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 4.87, "reference": 4.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 137, "frequency": 1.46, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "JAK1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.46}, "major_variants": ["V658F (n=1)", "Q572L (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat 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{"min": 0.0, "max": 1.46}, "major_variants": ["I584V (n=1)", "W536R (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute 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"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": "HLA-DRB1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.46}, "major_variants": ["S66Y (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Largest alteration is deep deletion: 57/682 (8.36%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 27.87, "width": 1.0, "reference": 27.87, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 57, "tested": 682, "frequency": 8.36, "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": "HDHD5", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.46}, "major_variants": ["R188C (n=1)", "R33C (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Largest alteration is amplification: 10/682 (1.47%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.9, "width": 1.0, "reference": 4.9, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 10, "tested": 682, "frequency": 1.47, "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": "GNB1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.46}, "major_variants": ["A92D (n=1)", "D76G (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat 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"major_variants": ["S285P (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 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"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": "FURIN", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.46}, "major_variants": ["S287Y (n=1)", "V548A (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 4.87, "reference": 4.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 137, "frequency": 1.46, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FHL3", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.46}, "major_variants": ["Y27H (n=1)", "A96V (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 4.87, "reference": 4.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 137, "frequency": 1.46, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FCGBP", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 2, "tested": 137, "frequency": 1.46, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 1.46}, "major_variants": ["T678S (n=1)", "D4873N (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 · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018), 2/137 patients (1.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "all_phase2_target_2018_pub", "cohort_name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "altered": 2, "tested": 137, "frequency": 1.46, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "150/1978", "coverage_note": null, "source_id": "all_phase2_target_2018_pub", "is_reference": true}, {"cohort": "all_stjude_2015", "cohort_name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "altered": 0, "tested": 85, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "93/93", "coverage_note": null, "source_id": "all_stjude_2015", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 4.87, "reference": 4.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 137, "frequency": 1.46, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "CDKN2A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "CDKN2A deep deletion", "genomic_coordinate": null, "observed": 271, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 39.74, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "IKZF1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "IKZF1 deep deletion", "genomic_coordinate": null, "observed": 96, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 14.08, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PAX5", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "PAX5 deep deletion", "genomic_coordinate": null, "observed": 87, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 12.76, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ETV6", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "ETV6 deep deletion", "genomic_coordinate": null, "observed": 79, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 11.58, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "HLA-DRB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "HLA-DRB1 deep deletion", "genomic_coordinate": null, "observed": 57, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 8.36, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "HLA-DRB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "HLA-DRB1 amplification", "genomic_coordinate": null, "observed": 37, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.43, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TAS2R19", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "TAS2R19 deep deletion", "genomic_coordinate": null, "observed": 32, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.69, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TAS2R31", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "TAS2R31 deep deletion", "genomic_coordinate": null, "observed": 32, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.69, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SETD2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SETD2 deep deletion", "genomic_coordinate": null, "observed": 17, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.49, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NSD2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "NSD2 deep deletion", "genomic_coordinate": null, "observed": 16, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.35, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KRAS", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "KRAS deep deletion", "genomic_coordinate": null, "observed": 14, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.05, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CDK11A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "CDK11A deep deletion", "genomic_coordinate": null, "observed": 14, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.05, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SYNJ1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SYNJ1 amplification", "genomic_coordinate": null, "observed": 14, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.05, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SLX9", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SLX9 amplification", "genomic_coordinate": null, "observed": 14, "observed_status": "observed", "observed_unit": "patients", "tested": 682, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.05, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["all_phase2_target_2018_pub"], "source_ids": ["all_phase2_target_2018_pub_cna"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 1, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 1, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source": "cBioPortal", "accession": "all_phase2_target_2018_pub", "patients": {"value": 137, "status": "observed", "unit": "patients"}, "samples": {"value": 150, "status": "observed", "unit": "samples"}, "disease_subtype": "Pediatric Acute Lymphoid Leukemia - Phase II (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": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "all_phase2_target_2018_pub", "is_demo": false, "assay_coverage": {"patients_with_calls": 137, "patients_in_roster": 137, "frequencies_computed": true, "samples_sequenced": 150, "samples_in_study": 1978, "hypermutated_patients": 0, "median_mutations_per_sample": 3.5, "reason": null}}, {"name": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source": "cBioPortal", "accession": "all_stjude_2015", "patients": {"value": 85, "status": "observed", "unit": "patients"}, "samples": {"value": 93, "status": "observed", "unit": "samples"}, "disease_subtype": "Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "assay_type": "exome or genome", "sequencing_method": "WES (93)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "all_stjude_2015", "is_demo": false, "assay_coverage": {"patients_with_calls": 85, "patients_in_roster": 85, "frequencies_computed": true, "samples_sequenced": 93, "samples_in_study": 93, "hypermutated_patients": 0, "median_mutations_per_sample": 0, "reason": null}}], "sources": [{"source_name": "cBioPortal · Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=all_phase2_target_2018_pub", "source_record_id": "all_phase2_target_2018_pub", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015)", "source_url": "https://www.cbioportal.org/study/summary?id=all_stjude_2015", "source_record_id": "all_stjude_2015", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018) (137 sequenced patients, exome or genome), the most frequently altered of the 49 genes shown are CDKN2A 39.74% (deep deletion), IKZF1 14.08% (deep deletion), PAX5 12.76% (deep deletion), NRAS 11.68%, ETV6 11.58% (deep deletion). Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 6 are altered in under 2% of this cohort (CD19, CD22, ABL1, NOTCH1, KMT2A, CRLF2): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "CDKN2A is deleted in 271 of 682 patients in Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018).", "numerator": 271, "denominator": 682, "frequency": 39.74, "cohorts": 1, "evidence_confidence": "moderate", "source": "all_phase2_target_2018_pub", "retrieved_at": "2026-09-18"}, {"finding": "IKZF1 is deleted in 96 of 682 patients in Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018).", "numerator": 96, "denominator": 682, "frequency": 14.08, "cohorts": 0, "evidence_confidence": "moderate", "source": "all_phase2_target_2018_pub", "retrieved_at": "2026-09-18"}, {"finding": "PAX5 is deleted in 87 of 682 patients in Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018).", "numerator": 87, "denominator": 682, "frequency": 12.76, "cohorts": 2, "evidence_confidence": "moderate", "source": "all_phase2_target_2018_pub", "retrieved_at": "2026-09-18"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "all_phase2_target_2018_pub", "region_events": [], "matrix": [{"label": "CD19", "kind": "SNV / small indel", "gene": "CD19", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "CD22", "kind": "SNV / small indel", "gene": "CD22", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "ABL1", "kind": "SNV / small indel", "gene": "ABL1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "IKZF1", "kind": "SNV / small indel", "gene": "IKZF1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "IKZF1", "kind": "deep deletion", "gene": "IKZF1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 14.08, "altered": 96, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 0.73, "altered": 1, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "CDKN2A", "kind": "deep deletion", "gene": "CDKN2A", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 39.74, "altered": 271, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "NOTCH1", "kind": "SNV / small indel", "gene": "NOTCH1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "KMT2A", "kind": "SNV / small indel", "gene": "KMT2A", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "ETV6", "kind": "SNV / small indel", "gene": "ETV6", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "ETV6", "kind": "deep deletion", "gene": "ETV6", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 11.58, "altered": 79, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "PAX5", "kind": "SNV / small indel", "gene": "PAX5", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "observed", "frequency": 3.53, "altered": 3, "tested": 85, "note": null}]}, {"label": "PAX5", "kind": "deep deletion", "gene": "PAX5", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 12.76, "altered": 87, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "CRLF2", "kind": "SNV / small indel", "gene": "CRLF2", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "JAK2", "kind": "SNV / small indel", "gene": "JAK2", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 3.65, "altered": 5, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 4.38, "altered": 6, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "observed", "frequency": 2.35, "altered": 2, "tested": 85, "note": null}]}, {"label": "NRAS", "kind": "SNV / small indel", "gene": "NRAS", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 11.68, "altered": 16, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "observed", "frequency": 9.41, "altered": 8, "tested": 85, "note": null}]}, {"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 5.84, "altered": 8, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "observed", "frequency": 12.94, "altered": 11, "tested": 85, "note": null}]}, {"label": "KRAS", "kind": "deep deletion", "gene": "KRAS", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.05, "altered": 14, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "PTPN11", "kind": "SNV / small indel", "gene": "PTPN11", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 4.38, "altered": 6, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 4.38, "altered": 6, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "observed", "frequency": 1.18, "altered": 1, "tested": 85, "note": null}]}, {"label": "NSD2", "kind": "SNV / small indel", "gene": "NSD2", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 3.65, "altered": 5, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "observed", "frequency": 1.18, "altered": 1, "tested": 85, "note": null}]}, {"label": "NSD2", "kind": "deep deletion", "gene": "NSD2", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.35, "altered": 16, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "FLT3", "kind": "SNV / small indel", "gene": "FLT3", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 3.65, "altered": 5, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "observed", "frequency": 5.88, "altered": 5, "tested": 85, "note": null}]}, {"label": "NOTCH2", "kind": "SNV / small indel", "gene": "NOTCH2", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.92, "altered": 4, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "CDK11A", "kind": "SNV / small indel", "gene": "CDK11A", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.92, "altered": 4, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "CDK11A", "kind": "deep deletion", "gene": "CDK11A", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.05, "altered": 14, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "TAS2R19", "kind": "SNV / small indel", "gene": "TAS2R19", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "TAS2R19", "kind": "deep deletion", "gene": "TAS2R19", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 4.69, "altered": 32, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "QRICH2", "kind": "SNV / small indel", "gene": "QRICH2", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "OVGP1", "kind": "SNV / small indel", "gene": "OVGP1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "HLA-C", "kind": "SNV / small indel", "gene": "HLA-C", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.19, "altered": 3, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "UBR4", "kind": "SNV / small indel", "gene": "UBR4", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "TBL3", "kind": "SNV / small indel", "gene": "TBL3", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "TAS2R31", "kind": "SNV / small indel", "gene": "TAS2R31", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "TAS2R31", "kind": "deep deletion", "gene": "TAS2R31", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 4.69, "altered": 32, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "SYNJ1", "kind": "SNV / small indel", "gene": "SYNJ1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "SYNJ1", "kind": "amplification", "gene": "SYNJ1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.05, "altered": 14, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "SUPT6H", "kind": "SNV / small indel", "gene": "SUPT6H", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "SLX9", "kind": "SNV / small indel", "gene": "SLX9", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "SLX9", "kind": "amplification", "gene": "SLX9", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.05, "altered": 14, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "SLC1A5", "kind": "SNV / small indel", "gene": "SLC1A5", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "SETD2", "kind": "SNV / small indel", "gene": "SETD2", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "SETD2", "kind": "deep deletion", "gene": "SETD2", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 2.49, "altered": 17, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "RBM19", "kind": "SNV / small indel", "gene": "RBM19", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "PHF6", "kind": "SNV / small indel", "gene": "PHF6", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "PCNT", "kind": "SNV / small indel", "gene": "PCNT", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "PCDHB4", "kind": "SNV / small indel", "gene": "PCDHB4", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "NUDCD1", "kind": "SNV / small indel", "gene": "NUDCD1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "MRPL9", "kind": "SNV / small indel", "gene": "MRPL9", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "MDGA2", "kind": "SNV / small indel", "gene": "MDGA2", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "JAK1", "kind": "SNV / small indel", "gene": "JAK1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "HSD17B4", "kind": "SNV / small indel", "gene": "HSD17B4", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "HLA-DRB1", "kind": "SNV / small indel", "gene": "HLA-DRB1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "HLA-DRB1", "kind": "amplification", "gene": "HLA-DRB1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 5.43, "altered": 37, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "HLA-DRB1", "kind": "deep deletion", "gene": "HLA-DRB1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 8.36, "altered": 57, "tested": 682, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "all_stjude_2015", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}]}, {"label": "HDHD5", "kind": "SNV / small indel", "gene": "HDHD5", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "GNB1", "kind": "SNV / small indel", "gene": "GNB1", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "GCNA", "kind": "SNV / small indel", "gene": "GCNA", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "FURIN", "kind": "SNV / small indel", "gene": "FURIN", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "FHL3", "kind": "SNV / small indel", "gene": "FHL3", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}, {"label": "FCGBP", "kind": "SNV / small indel", "gene": "FCGBP", "cells": [{"cohort": "all_phase2_target_2018_pub", "status": "observed", "frequency": 1.46, "altered": 2, "tested": 137, "note": null}, {"cohort": "all_stjude_2015", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 85, "note": null}]}]}