{"disease": {"name": "Endometrial cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "ucec"}, "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": "PTEN", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 337, "tested": 517, "frequency": 65.18, "cohort_count": 2, "frequency_range": {"min": 49.95, "max": 65.18}, "major_variants": ["R130G (n=41)", "R130Q (n=34)", "R233* (n=25)", "T319* (n=14)", "R130* (n=12)"], "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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 337/517 patients (65.18%).", "Without the 96 hypermutated patients: 249/421 (59.14%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 337, "tested": 517, "frequency": 65.18, "frequency_excl_hypermutated": 59.14, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 940, "tested": 1882, "frequency": 49.95, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "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": "SNV / small indel", "altered": 337, "tested": 517, "frequency": 65.18, "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": "PIK3CA", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 259, "tested": 517, "frequency": 50.1, "cohort_count": 2, "frequency_range": {"min": 43.78, "max": 50.1}, "major_variants": ["R88Q (n=36)", "H1047R (n=29)", "E542K (n=17)", "E545K (n=15)", "G118D (n=10)"], "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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 259/517 patients (50.1%).", "Without the 96 hypermutated patients: 190/421 (45.13%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 259, "tested": 517, "frequency": 50.1, "frequency_excl_hypermutated": 45.13, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 824, "tested": 1882, "frequency": 43.78, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "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": "SNV / small indel", "altered": 259, "tested": 517, "frequency": 50.1, "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": 192, "tested": 517, "frequency": 37.14, "cohort_count": 2, "frequency_range": {"min": 37.14, "max": 45.16}, "major_variants": ["R273C (n=11)", "R273H (n=10)", "R248Q (n=8)", "R248W (n=7)", "R175H (n=7)"], "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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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: 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Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 192, "tested": 517, "frequency": 37.14, "frequency_excl_hypermutated": 38.72, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 850, "tested": 1882, "frequency": 45.16, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "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": "SNV / small indel", "altered": 192, "tested": 517, "frequency": 37.14, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "POLE", "alteration_types": ["SNV / small indel", "amplification"], "altered": 81, "tested": 517, "frequency": 15.67, "cohort_count": 2, "frequency_range": {"min": 4.84, "max": 15.67}, "major_variants": ["P286R (n=20)", "V411L (n=13)", "S297F (n=3)", "L424I (n=3)", "P916L (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, 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"cohort_count": 2, "frequency_range": {"min": 1.75, "max": 6.38}, "major_variants": ["R385C (n=2)", "A623T (n=1)", "G189D (n=1)", "G98V (n=1)", "R265C (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 33/517 patients (6.38%).", "Without the 96 hypermutated patients: 5/421 (1.19%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 33, "tested": 517, "frequency": 6.38, "frequency_excl_hypermutated": 1.19, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 33, "tested": 1882, "frequency": 1.75, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.83, "width": 15.44, "reference": 21.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 33, "tested": 517, "frequency": 6.38, "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": "MSH2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 41, "tested": 517, "frequency": 7.93, "cohort_count": 2, "frequency_range": {"min": 3.72, "max": 7.93}, "major_variants": ["X426_splice (n=2)", "E580* (n=2)", "D352Y (n=1)", "R219I (n=1)", "R524C (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 41/517 patients (7.93%).", "Without the 96 hypermutated patients: 2/421 (0.48%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 41, "tested": 517, "frequency": 7.93, "frequency_excl_hypermutated": 0.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 70, "tested": 1882, "frequency": 3.72, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.4, "width": 14.03, "reference": 26.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 41, "tested": 517, "frequency": 7.93, "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": "MSH6", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 58, "tested": 517, "frequency": 11.22, "cohort_count": 2, "frequency_range": {"min": 4.62, "max": 11.22}, "major_variants": ["E946* (n=4)", "E1322* (n=3)", "R1076H (n=3)", "R959H (n=3)", "E1234* (n=3)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 58/517 patients (11.22%).", "Without the 96 hypermutated patients: 9/421 (2.14%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 58, "tested": 517, "frequency": 11.22, "frequency_excl_hypermutated": 2.14, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 87, "tested": 1882, "frequency": 4.62, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.4, "width": 22.0, "reference": 37.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 58, "tested": 517, "frequency": 11.22, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ARID1A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 227, "tested": 517, "frequency": 43.91, "cohort_count": 2, "frequency_range": {"min": 42.08, "max": 43.91}, "major_variants": ["R1989* (n=23)", "D1850Tfs*33 (n=12)", "F2141Sfs*59 (n=7)", "K1072Nfs*21 (n=7)", "R1721* (n=6)"], "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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 227/517 patients (43.91%).", "Without the 96 hypermutated patients: 153/421 (36.34%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 227, "tested": 517, "frequency": 43.91, "frequency_excl_hypermutated": 36.34, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 792, "tested": 1882, "frequency": 42.08, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "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": "SNV / small indel", "altered": 227, "tested": 517, "frequency": 43.91, "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": "CTNNB1", "alteration_types": ["SNV / small indel", "deep deletion", "amplification"], "altered": 132, "tested": 517, "frequency": 25.53, "cohort_count": 2, "frequency_range": {"min": 15.73, "max": 25.53}, "major_variants": ["S37F (n=11)", "S37C (n=10)", "S33F (n=9)", "S33C (n=9)", "T41I (n=7)"], "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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 132/517 patients (25.53%).", "Without the 96 hypermutated patients: 95/421 (22.57%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 132, "tested": 517, "frequency": 25.53, "frequency_excl_hypermutated": 22.57, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 296, "tested": 1882, "frequency": 15.73, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 52.43, "width": 32.67, "reference": 85.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 132, "tested": 517, "frequency": 25.53, "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": "ESR1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 28, "tested": 517, "frequency": 5.42, "cohort_count": 2, "frequency_range": {"min": 3.08, "max": 5.42}, "major_variants": ["D538G (n=3)", "R555H (n=2)", "D218N (n=2)", "A551V (n=1)", "C188R (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 28/517 patients (5.42%).", "Without the 96 hypermutated patients: 10/421 (2.38%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 28, "tested": 517, "frequency": 5.42, "frequency_excl_hypermutated": 2.38, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 58, "tested": 1882, "frequency": 3.08, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.27, "width": 7.8, "reference": 18.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 28, "tested": 517, "frequency": 5.42, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PGR", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 30, "tested": 517, "frequency": 5.8, "cohort_count": 2, "frequency_range": {"min": 0.16, "max": 5.8}, "major_variants": ["F591del (n=3)", "R740* (n=2)", "R788W (n=2)", "R740Q (n=2)", "A701T (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 30/517 patients (5.8%).", "Without the 96 hypermutated patients: 12/421 (2.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 30, "tested": 517, "frequency": 5.8, "frequency_excl_hypermutated": 2.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 3, "tested": 1824, "frequency": 0.16, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.53, "width": 18.8, "reference": 19.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 517, "frequency": 5.8, "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": "ERBB2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 37, "tested": 517, "frequency": 7.16, "cohort_count": 2, "frequency_range": {"min": 2.76, "max": 7.16}, "major_variants": ["R678Q (n=5)", "V842I (n=4)", "L755S (n=3)", "E1195K (n=1)", "X76_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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 37/517 patients (7.16%).", "Without the 96 hypermutated patients: 12/421 (2.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 37, "tested": 517, "frequency": 7.16, "frequency_excl_hypermutated": 2.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 52, "tested": 1882, "frequency": 2.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.2, "width": 14.67, "reference": 23.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 37, "tested": 517, "frequency": 7.16, "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": "PIK3R1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 158, "tested": 517, "frequency": 30.56, "cohort_count": 2, "frequency_range": {"min": 25.72, "max": 30.56}, "major_variants": ["R348* (n=15)", "X582_splice (n=11)", "N564D (n=6)", "R461* (n=6)", "R642* (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 158/517 patients (30.56%).", "Without the 96 hypermutated patients: 114/421 (27.08%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 158, "tested": 517, "frequency": 30.56, "frequency_excl_hypermutated": 27.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 484, "tested": 1882, "frequency": 25.72, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 85.73, "width": 14.27, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 158, "tested": 517, "frequency": 30.56, "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", "amplification", "deep deletion"], "altered": 143, "tested": 517, "frequency": 27.66, "cohort_count": 2, "frequency_range": {"min": 12.27, "max": 27.66}, "major_variants": ["G1235Vfs*95 (n=9)", "P2354Lfs*30 (n=7)", "R3707* (n=4)", "P647Hfs*283 (n=3)", "P1460Hfs*46 (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 143/517 patients (27.66%).", "Without the 96 hypermutated patients: 70/421 (16.63%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 143, "tested": 517, "frequency": 27.66, "frequency_excl_hypermutated": 16.63, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 231, "tested": 1882, "frequency": 12.27, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 40.9, "width": 51.3, "reference": 92.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 143, "tested": 517, "frequency": 27.66, "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": "CTCF", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 127, "tested": 517, "frequency": 24.56, "cohort_count": 2, "frequency_range": {"min": 16.21, "max": 24.56}, "major_variants": ["T204Nfs*26 (n=14)", "T204Qfs*18 (n=8)", "R448* (n=7)", "R377C (n=6)", "P378L (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 127/517 patients (24.56%).", "Without the 96 hypermutated patients: 77/421 (18.29%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 127, "tested": 517, "frequency": 24.56, "frequency_excl_hypermutated": 18.29, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 305, "tested": 1882, "frequency": 16.21, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 54.03, "width": 27.84, "reference": 81.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 127, "tested": 517, "frequency": 24.56, "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": "ZFHX3", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 123, "tested": 517, "frequency": 23.79, "cohort_count": 2, "frequency_range": {"min": 12.99, "max": 23.79}, "major_variants": ["R1893Gfs*35 (n=8)", "E763Sfs*61 (n=5)", "Q2557Efs*21 (n=4)", "A3407Lfs*78 (n=4)", "R1439Q (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 123/517 patients (23.79%).", "Without the 96 hypermutated patients: 57/421 (13.54%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 123, "tested": 517, "frequency": 23.79, "frequency_excl_hypermutated": 13.54, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 237, "tested": 1824, "frequency": 12.99, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 43.3, "width": 36.0, "reference": 79.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 123, "tested": 517, "frequency": 23.79, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2B", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 113, "tested": 517, "frequency": 21.86, "cohort_count": 2, "frequency_range": {"min": 12.52, "max": 21.86}, "major_variants": ["G1879Vfs*16 (n=5)", "R1911Dfs*23 (n=3)", "P1201Rfs*154 (n=3)", "R1109Efs*73 (n=2)", "E1620K (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 113/517 patients (21.86%).", "Without the 96 hypermutated patients: 55/421 (13.06%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 113, "tested": 517, "frequency": 21.86, "frequency_excl_hypermutated": 13.06, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 208, "tested": 1661, "frequency": 12.52, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 41.73, "width": 31.14, "reference": 72.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 113, "tested": 517, "frequency": 21.86, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CHD4", "alteration_types": ["SNV / small indel", "amplification"], "altered": 113, "tested": 517, "frequency": 21.86, "cohort_count": 1, "frequency_range": {"min": 21.86, "max": 21.86}, "major_variants": ["R1105W (n=7)", "R975H (n=7)", "R1338I (n=5)", "R1162W (n=5)", "K73Rfs*129 (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 113/517 patients (21.86%).", "Without the 96 hypermutated patients: 53/421 (12.59%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 113, "tested": 517, "frequency": 21.86, "frequency_excl_hypermutated": 12.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 72.87, "width": 1.0, "reference": 72.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 113, "tested": 517, "frequency": 21.86, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TAF1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 104, "tested": 517, "frequency": 20.12, "cohort_count": 1, "frequency_range": {"min": 20.12, "max": 20.12}, "major_variants": ["R869C (n=6)", "R539Q (n=5)", "R843W (n=4)", "R1163H (n=3)", "R843Q (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 104/517 patients (20.12%).", "Without the 96 hypermutated patients: 40/421 (9.5%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 104, "tested": 517, "frequency": 20.12, "frequency_excl_hypermutated": 9.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 67.07, "width": 1.0, "reference": 67.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 104, "tested": 517, "frequency": 20.12, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FAT1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 103, "tested": 517, "frequency": 19.92, "cohort_count": 2, "frequency_range": {"min": 4.84, "max": 19.92}, "major_variants": ["R2597* (n=6)", "D3120N (n=3)", "E528K (n=3)", "R1795* (n=3)", "R1627* (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 103/517 patients (19.92%).", "Without the 96 hypermutated patients: 33/421 (7.84%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 103, "tested": 517, "frequency": 19.92, "frequency_excl_hypermutated": 7.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 91, "tested": 1882, "frequency": 4.84, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.13, "width": 50.27, "reference": 66.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 103, "tested": 517, "frequency": 19.92, "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": "ARHGAP35", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 102, "tested": 517, "frequency": 19.73, "cohort_count": 2, "frequency_range": {"min": 1.26, "max": 19.73}, "major_variants": ["R997* (n=10)", "R433* (n=5)", "R109* (n=3)", "R1145* (n=3)", "R529* (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 102/517 patients (19.73%).", "Without the 96 hypermutated patients: 41/421 (9.74%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 102, "tested": 517, "frequency": 19.73, "frequency_excl_hypermutated": 9.74, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 6, "tested": 476, "frequency": 1.26, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.2, "width": 61.57, "reference": 65.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 102, "tested": 517, "frequency": 19.73, "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": "KMT2C", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 101, "tested": 517, "frequency": 19.54, "cohort_count": 2, "frequency_range": {"min": 5.05, "max": 19.54}, "major_variants": ["R190Q (n=4)", "R4693Q (n=4)", "R4806* (n=4)", "S836Y (n=3)", "R56Q (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 101/517 patients (19.54%).", "Without the 96 hypermutated patients: 38/421 (9.03%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 101, "tested": 517, "frequency": 19.54, "frequency_excl_hypermutated": 9.03, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 95, "tested": 1882, "frequency": 5.05, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.83, "width": 48.3, "reference": 65.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 101, "tested": 517, "frequency": 19.54, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ATM", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 99, "tested": 517, "frequency": 19.15, "cohort_count": 2, "frequency_range": {"min": 7.39, "max": 19.15}, "major_variants": ["R2598* (n=3)", "R250* (n=3)", "R248Q (n=3)", "R1086C (n=2)", "R2993* (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 99/517 patients (19.15%).", "Without the 96 hypermutated patients: 34/421 (8.08%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 99, "tested": 517, "frequency": 19.15, "frequency_excl_hypermutated": 8.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 139, "tested": 1882, "frequency": 7.39, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 24.63, "width": 39.2, "reference": 63.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 99, "tested": 517, "frequency": 19.15, "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": 98, "tested": 517, "frequency": 18.96, "cohort_count": 2, "frequency_range": {"min": 18.96, "max": 18.97}, "major_variants": ["G12D (n=32)", "G12V (n=19)", "G13D (n=11)", "G12A (n=8)", "G12C (n=6)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 98/517 patients (18.96%).", "Without the 96 hypermutated patients: 74/421 (17.58%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 98, "tested": 517, "frequency": 18.96, "frequency_excl_hypermutated": 17.58, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 357, "tested": 1882, "frequency": 18.97, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 63.2, "width": 1.0, "reference": 63.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 98, "tested": 517, "frequency": 18.96, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "HUWE1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 97, "tested": 517, "frequency": 18.76, "cohort_count": 1, "frequency_range": {"min": 18.76, "max": 18.76}, "major_variants": ["F1592L (n=2)", "Y147C (n=2)", "R1780H (n=2)", "R2545C (n=2)", "R3990C (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 97/517 patients (18.76%).", "Without the 96 hypermutated patients: 29/421 (6.89%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 97, "tested": 517, "frequency": 18.76, "frequency_excl_hypermutated": 6.89, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 62.53, "width": 1.0, "reference": 62.53, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 97, "tested": 517, "frequency": 18.76, "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": "MDN1", "alteration_types": ["SNV / 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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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 95/517 patients (18.38%).", "Without the 96 hypermutated patients: 29/421 (6.89%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 95, "tested": 517, "frequency": 18.38, "frequency_excl_hypermutated": 6.89, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 61.27, "width": 1.0, "reference": 61.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 95, "tested": 517, "frequency": 18.38, "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": "FBXW7", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 95, "tested": 517, "frequency": 18.38, "cohort_count": 2, "frequency_range": {"min": 14.67, "max": 18.38}, "major_variants": ["R465H (n=10)", "R465C (n=8)", "R505C (n=8)", "R689W (n=7)", "R658* (n=6)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 95/517 patients (18.38%).", "Without the 96 hypermutated patients: 52/421 (12.35%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 95, "tested": 517, "frequency": 18.38, "frequency_excl_hypermutated": 12.35, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 276, "tested": 1882, "frequency": 14.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 48.9, "width": 12.37, "reference": 61.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 95, "tested": 517, "frequency": 18.38, "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": "NSD1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 93, "tested": 517, "frequency": 17.99, "cohort_count": 2, "frequency_range": {"min": 5.47, "max": 17.99}, "major_variants": ["M1531Cfs*43 (n=12)", "V1486* (n=3)", "R2117* (n=2)", "R1914C (n=2)", "T545M (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 93/517 patients (17.99%).", "Without the 96 hypermutated patients: 35/421 (8.31%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 93, "tested": 517, "frequency": 17.99, "frequency_excl_hypermutated": 8.31, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 103, "tested": 1882, "frequency": 5.47, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 18.23, "width": 41.74, "reference": 59.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 93, "tested": 517, "frequency": 17.99, "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": "HERC2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 93, "tested": 517, "frequency": 17.99, "cohort_count": 1, "frequency_range": {"min": 17.99, "max": 17.99}, "major_variants": ["R3906C (n=4)", "E3913K (n=3)", "A330T (n=3)", "R1744Q (n=3)", "R746H (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 93/517 patients (17.99%).", "Without the 96 hypermutated patients: 23/421 (5.46%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 93, "tested": 517, "frequency": 17.99, "frequency_excl_hypermutated": 5.46, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 59.97, "width": 1.0, "reference": 59.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 93, "tested": 517, "frequency": 17.99, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MED12", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 92, "tested": 517, "frequency": 17.79, "cohort_count": 2, "frequency_range": {"min": 4.73, "max": 17.79}, "major_variants": ["R521H (n=4)", "E79D (n=3)", "E716D (n=2)", "X68_splice (n=2)", "R1266H (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 92/517 patients (17.79%).", "Without the 96 hypermutated patients: 32/421 (7.6%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 92, "tested": 517, "frequency": 17.79, "frequency_excl_hypermutated": 7.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 89, "tested": 1882, "frequency": 4.73, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.77, "width": 43.53, "reference": 59.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 92, "tested": 517, "frequency": 17.79, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FAT2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 92, "tested": 517, "frequency": 17.79, "cohort_count": 1, "frequency_range": {"min": 17.79, "max": 17.79}, "major_variants": ["E1795* (n=3)", "R543H (n=3)", "E928* (n=2)", "G3018D (n=2)", "R1445Q (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: 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"status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 59.3, "width": 1.0, "reference": 59.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 92, "tested": 517, "frequency": 17.79, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CACNA1E", "alteration_types": ["SNV / small indel", "amplification"], "altered": 90, "tested": 517, "frequency": 17.41, "cohort_count": 1, "frequency_range": {"min": 17.41, "max": 17.41}, "major_variants": ["D87N (n=3)", "L1006* (n=3)", "A1307T (n=2)", "S1937L (n=2)", "R938Q (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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; 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"ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 90, "tested": 517, "frequency": 17.41, "frequency_excl_hypermutated": 6.18, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 58.03, "width": 1.0, "reference": 58.03, 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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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 88/517 patients (17.02%).", "Without the 96 hypermutated patients: 34/421 (8.08%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 88, "tested": 517, "frequency": 17.02, "frequency_excl_hypermutated": 8.08, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": 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"cohort_count_unit": "cohorts"}, {"gene": "LAMA2", "alteration_types": ["SNV / small indel"], "altered": 88, "tested": 517, "frequency": 17.02, "cohort_count": 1, "frequency_range": {"min": 17.02, "max": 17.02}, "major_variants": ["R553* (n=3)", "S971Y (n=3)", "R84Q (n=2)", "F1085L (n=2)", "R1844H (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 88/517 patients (17.02%).", "Without the 96 hypermutated patients: 28/421 (6.65%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 88, "tested": 517, "frequency": 17.02, "frequency_excl_hypermutated": 6.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 56.73, "width": 1.0, "reference": 56.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 88, "tested": 517, "frequency": 17.02, "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": "UBR4", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 87, "tested": 517, "frequency": 16.83, "cohort_count": 1, "frequency_range": {"min": 16.83, "max": 16.83}, "major_variants": ["M2803Cfs*16 (n=6)", "R5060W (n=3)", "R3425C (n=2)", "R3748* (n=2)", "R325H (n=2)"], "evidence_confidence": "moderate", 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517, "frequency": 16.83, "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": "PRKDC", "alteration_types": ["SNV / small indel", "amplification"], "altered": 87, "tested": 517, "frequency": 16.83, "cohort_count": 1, "frequency_range": {"min": 16.83, "max": 16.83}, "major_variants": ["R2521Q (n=6)", "E3638* (n=3)", "R1136H (n=3)", "R2597Q (n=3)", "N3604Kfs*3 (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 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"cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 56.1, "width": 1.0, "reference": 56.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 87, "tested": 517, "frequency": 16.83, "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": "PPP2R1A", "alteration_types": ["SNV / small indel", "amplification", 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"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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 87/517 patients (16.83%).", "Without the 96 hypermutated patients: 62/421 (14.73%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 87, "tested": 517, "frequency": 16.83, "frequency_excl_hypermutated": 14.73, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": 226, "tested": 1882, "frequency": 12.01, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 40.03, "width": 16.07, "reference": 56.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 87, "tested": 517, "frequency": 16.83, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PCDH15", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 87, "tested": 517, "frequency": 16.83, "cohort_count": 1, "frequency_range": {"min": 16.83, "max": 16.83}, "major_variants": ["X436_splice (n=2)", "R683H (n=2)", "L1025I (n=2)", "E456* (n=2)", "S1509Y (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See 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"tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NBEA", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 87, "tested": 517, "frequency": 16.83, "cohort_count": 1, "frequency_range": {"min": 16.83, "max": 16.83}, "major_variants": ["N1121Mfs*9 (n=6)", "E1710K (n=5)", "R2080* (n=3)", "R2756W (n=3)", "R1308* (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", 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"range_plot": {"left": 32.6, "width": 23.5, "reference": 56.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 87, "tested": 517, "frequency": 16.83, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "DYNC2H1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 86, "tested": 517, "frequency": 16.63, "cohort_count": 1, "frequency_range": {"min": 16.63, "max": 16.63}, "major_variants": ["E883D (n=5)", "R3053Q (n=3)", "V2574I (n=2)", "R2015Q (n=2)", "E436* (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 · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 86/517 patients (16.63%).", "Without the 96 hypermutated patients: 18/421 (4.28%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 86, "tested": 517, "frequency": 16.63, "frequency_excl_hypermutated": 4.28, "counting_unit": "patients", "status": 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"tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MKI67", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 85, "tested": 517, "frequency": 16.44, "cohort_count": 1, "frequency_range": {"min": 16.44, "max": 16.44}, "major_variants": ["E1374K (n=4)", "I1857Yfs*30 (n=4)", "N233Mfs*12 (n=3)", "P2590Hfs*4 (n=2)", "F1524L (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": 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"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: Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas), 85/517 patients (16.44%).", "Without the 96 hypermutated patients: 16/421 (3.8%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "cohort_name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "altered": 85, "tested": 517, "frequency": 16.44, "frequency_excl_hypermutated": 3.8, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "517/529", "coverage_note": null, "source_id": "ucec_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "ucec_ancestry_cds_msk_2023", "cohort_name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1882/1882", "coverage_note": null, "source_id": "ucec_ancestry_cds_msk_2023", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 54.8, "width": 1.0, "reference": 54.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 85, "tested": 517, "frequency": 16.44, "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": "DCHS1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 85, "tested": 517, "frequency": 16.44, "cohort_count": 1, 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"observed_unit": "patients", "tested": 1812, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.37, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["ucec_ancestry_cds_msk_2023"], "source_ids": ["ucec_ancestry_cds_msk_2023_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PRKDC", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PRKDC amplification", "genomic_coordinate": null, "observed": 12, "observed_status": "observed", "observed_unit": "patients", "tested": 523, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.29, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["ucec_tcga_pan_can_atlas_2018"], "source_ids": ["ucec_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CHD4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CHD4 amplification", "genomic_coordinate": null, "observed": 11, "observed_status": "observed", "observed_unit": "patients", "tested": 523, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.1, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["ucec_tcga_pan_can_atlas_2018"], "source_ids": ["ucec_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 1, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source": "cBioPortal", "accession": "ucec_tcga_pan_can_atlas_2018", "patients": {"value": 517, "status": "observed", "unit": "patients"}, "samples": {"value": 517, "status": "observed", "unit": "samples"}, "disease_subtype": "Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (517)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 517, "patients_in_roster": 517, "frequencies_computed": true, "samples_sequenced": 517, "samples_in_study": 529, "hypermutated_patients": 96, "median_mutations_per_sample": 74, "reason": null}}, {"name": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "source": "cBioPortal", "accession": "ucec_ancestry_cds_msk_2023", "patients": {"value": 1882, "status": "observed", "unit": "patients"}, "samples": {"value": 1882, "status": "observed", "unit": "samples"}, "disease_subtype": "Endometrial Cancer (MSK, Cancer Discovery 2023)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (1185), IMPACT505 (476), IMPACT410 (163), IMPACT341 (58)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion"], "genes_assayed": "panel genes only; per-gene denominators", "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": "ucec_ancestry_cds_msk_2023", "is_demo": false, "assay_coverage": {"patients_with_calls": 1882, "patients_in_roster": 1882, "frequencies_computed": true, "samples_sequenced": 1882, "samples_in_study": 1882, "hypermutated_patients": 0, "median_mutations_per_sample": 5.0, "reason": null}}], "sources": [{"source_name": "cBioPortal · Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018", "source_record_id": "ucec_tcga_pan_can_atlas_2018", "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 · Endometrial Cancer (MSK, Cancer Discovery 2023)", "source_url": "https://www.cbioportal.org/study/summary?id=ucec_ancestry_cds_msk_2023", "source_record_id": "ucec_ancestry_cds_msk_2023", "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 Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) (517 sequenced patients, exome or genome), the most frequently altered of the 47 genes shown are PTEN 65.18%, PIK3CA 50.1%, ARID1A 43.91%, TP53 37.14%, PIK3R1 30.56%. Each figure divides by the patients on whom that gene could be called.", "96 of 517 patients are hypermutated (more than 740 non-silent mutations, ten times the cohort median of 74); every gene's frequency without them is beside the headline.", "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": "PTEN is mutated in 337 of 517 patients in Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas).", "numerator": 337, "denominator": 517, "frequency": 65.18, "cohorts": 2, "evidence_confidence": "moderate", "source": "ucec_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "PIK3CA is mutated in 259 of 517 patients in Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas).", "numerator": 259, "denominator": 517, "frequency": 50.1, "cohorts": 2, "evidence_confidence": "moderate", "source": "ucec_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "ARID1A is mutated in 227 of 517 patients in Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas).", "numerator": 227, "denominator": 517, "frequency": 43.91, "cohorts": 2, "evidence_confidence": "moderate", "source": "ucec_tcga_pan_can_atlas_2018", "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": "ucec_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "PTEN", "kind": "SNV / small indel", "gene": "PTEN", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 65.18, "altered": 337, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 49.95, "altered": 940, "tested": 1882, "note": null}]}, {"label": "PTEN", "kind": "deep deletion", "gene": "PTEN", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.63, "altered": 19, "tested": 523, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 0.28, "altered": 5, "tested": 1812, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 50.1, "altered": 259, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 43.78, "altered": 824, "tested": 1882, "note": null}]}, {"label": "PIK3CA", "kind": "amplification", "gene": "PIK3CA", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.69, "altered": 35, "tested": 523, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 2.37, "altered": 43, "tested": 1812, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 37.14, "altered": 192, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 45.16, "altered": 850, "tested": 1882, "note": null}]}, {"label": "POLE", "kind": "SNV / small indel", "gene": "POLE", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 15.67, "altered": 81, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 4.84, "altered": 91, "tested": 1882, "note": null}]}, {"label": "MLH1", "kind": "SNV / small indel", "gene": "MLH1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.38, "altered": 33, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 1.75, "altered": 33, "tested": 1882, "note": null}]}, {"label": "MSH2", "kind": "SNV / small indel", "gene": "MSH2", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.93, "altered": 41, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 3.72, "altered": 70, "tested": 1882, "note": null}]}, {"label": "MSH6", "kind": "SNV / small indel", "gene": "MSH6", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.22, "altered": 58, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 4.62, "altered": 87, "tested": 1882, "note": null}]}, {"label": "ARID1A", "kind": "SNV / small indel", "gene": "ARID1A", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 43.91, "altered": 227, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 42.08, "altered": 792, "tested": 1882, "note": null}]}, {"label": "CTNNB1", "kind": "SNV / small indel", "gene": "CTNNB1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 25.53, "altered": 132, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 15.73, "altered": 296, "tested": 1882, "note": null}]}, {"label": "ESR1", "kind": "SNV / small indel", "gene": "ESR1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.42, "altered": 28, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 3.08, "altered": 58, "tested": 1882, "note": null}]}, {"label": "ESR1", "kind": "amplification", "gene": "ESR1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.68, "altered": 14, "tested": 523, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 0.28, "altered": 5, "tested": 1812, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PGR", "kind": "SNV / small indel", "gene": "PGR", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.8, "altered": 30, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 0.16, "altered": 3, "tested": 1824, "note": null}]}, {"label": "ERBB2", "kind": "SNV / small indel", "gene": "ERBB2", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.16, "altered": 37, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 2.76, "altered": 52, "tested": 1882, "note": null}]}, {"label": "ERBB2", "kind": "amplification", "gene": "ERBB2", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.16, "altered": 27, "tested": 523, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 4.64, "altered": 84, "tested": 1812, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PIK3R1", "kind": "SNV / small indel", "gene": "PIK3R1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 30.56, "altered": 158, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 25.72, "altered": 484, "tested": 1882, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 27.66, "altered": 143, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 12.27, "altered": 231, "tested": 1882, "note": null}]}, {"label": "CTCF", "kind": "SNV / small indel", "gene": "CTCF", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 24.56, "altered": 127, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 16.21, "altered": 305, "tested": 1882, "note": null}]}, {"label": "ZFHX3", "kind": "SNV / small indel", "gene": "ZFHX3", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.79, "altered": 123, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 12.99, "altered": 237, "tested": 1824, "note": null}]}, {"label": "ZFHX3", "kind": "deep deletion", "gene": "ZFHX3", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.49, "altered": 13, "tested": 523, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 0.99, "altered": 18, "tested": 1812, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KMT2B", "kind": "SNV / small indel", "gene": "KMT2B", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 21.86, "altered": 113, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 12.52, "altered": 208, "tested": 1661, "note": null}]}, {"label": "KMT2B", "kind": "amplification", "gene": "KMT2B", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.25, "altered": 17, "tested": 523, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 3.86, "altered": 70, "tested": 1812, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CHD4", "kind": "SNV / small indel", "gene": "CHD4", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 21.86, "altered": 113, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CHD4", "kind": "amplification", "gene": "CHD4", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.1, "altered": 11, "tested": 523, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1812, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TAF1", "kind": "SNV / small indel", "gene": "TAF1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 20.12, "altered": 104, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FAT1", "kind": "SNV / small indel", "gene": "FAT1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 19.92, "altered": 103, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 4.84, "altered": 91, "tested": 1882, "note": null}]}, {"label": "ARHGAP35", "kind": "SNV / small indel", "gene": "ARHGAP35", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 19.73, "altered": 102, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 1.26, "altered": 6, "tested": 476, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 19.54, "altered": 101, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 5.05, "altered": 95, "tested": 1882, "note": null}]}, {"label": "ATM", "kind": "SNV / small indel", "gene": "ATM", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 19.15, "altered": 99, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 7.39, "altered": 139, "tested": 1882, "note": null}]}, {"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 18.96, "altered": 98, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 18.97, "altered": 357, "tested": 1882, "note": null}]}, {"label": "HUWE1", "kind": "SNV / small indel", "gene": "HUWE1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 18.76, "altered": 97, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MDN1", "kind": "SNV / small indel", "gene": "MDN1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 18.38, "altered": 95, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FBXW7", "kind": "SNV / small indel", "gene": "FBXW7", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 18.38, "altered": 95, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 14.67, "altered": 276, "tested": 1882, "note": null}]}, {"label": "NSD1", "kind": "SNV / small indel", "gene": "NSD1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.99, "altered": 93, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 5.47, "altered": 103, "tested": 1882, "note": null}]}, {"label": "HERC2", "kind": "SNV / small indel", "gene": "HERC2", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.99, "altered": 93, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MED12", "kind": "SNV / small indel", "gene": "MED12", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.79, "altered": 92, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 4.73, "altered": 89, "tested": 1882, "note": null}]}, {"label": "FAT2", "kind": "SNV / small indel", "gene": "FAT2", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.79, "altered": 92, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CACNA1E", "kind": "SNV / small indel", "gene": "CACNA1E", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.41, "altered": 90, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LRP1", "kind": "SNV / small indel", "gene": "LRP1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.02, "altered": 88, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LAMA2", "kind": "SNV / small indel", "gene": "LAMA2", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.02, "altered": 88, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "UBR4", "kind": "SNV / small indel", "gene": "UBR4", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.83, "altered": 87, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PRKDC", "kind": "SNV / small indel", "gene": "PRKDC", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.83, "altered": 87, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PRKDC", "kind": "amplification", "gene": "PRKDC", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.29, "altered": 12, "tested": 523, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1812, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PPP2R1A", "kind": "SNV / small indel", "gene": "PPP2R1A", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.83, "altered": 87, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 12.01, "altered": 226, "tested": 1882, "note": null}]}, {"label": "PCDH15", "kind": "SNV / small indel", "gene": "PCDH15", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.83, "altered": 87, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NBEA", "kind": "SNV / small indel", "gene": "NBEA", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.83, "altered": 87, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "BCOR", "kind": "SNV / small indel", "gene": "BCOR", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.83, "altered": 87, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "observed", "frequency": 9.78, "altered": 184, "tested": 1882, "note": null}]}, {"label": "DYNC2H1", "kind": "SNV / small indel", "gene": "DYNC2H1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.63, "altered": 86, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MKI67", "kind": "SNV / small indel", "gene": "MKI67", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.44, "altered": 85, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DCHS1", "kind": "SNV / small indel", "gene": "DCHS1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.44, "altered": 85, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CHD3", "kind": "SNV / small indel", "gene": "CHD3", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.44, "altered": 85, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FCGBP", "kind": "SNV / small indel", "gene": "FCGBP", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.25, "altered": 84, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FCGBP", "kind": "amplification", "gene": "FCGBP", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.87, "altered": 15, "tested": 523, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1812, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "DYNC1H1", "kind": "SNV / small indel", "gene": "DYNC1H1", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.25, "altered": 84, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CEP290", "kind": "SNV / small indel", "gene": "CEP290", "cells": [{"cohort": "ucec_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.25, "altered": 84, "tested": 517, "note": null}, {"cohort": "ucec_ancestry_cds_msk_2023", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}]}