{"disease": {"name": "Head and neck cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "hnsc"}, "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": "TP53", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 353, "tested": 515, "frequency": 68.54, "cohort_count": 2, "frequency_range": {"min": 40.4, "max": 68.54}, "major_variants": ["R175H (n=12)", "R282W (n=11)", "R248Q (n=11)", "G245S (n=8)", "R273H (n=8)"], "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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 353/515 patients (68.54%).", "Without the 4 hypermutated patients: 350/511 (68.49%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 353, "tested": 515, "frequency": 68.54, "frequency_excl_hypermutated": 68.49, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 61, "tested": 151, "frequency": 40.4, "frequency_excl_hypermutated": 40.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "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": 353, "tested": 515, "frequency": 68.54, "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": "CDKN2A", "alteration_types": ["SNV / small indel", "deep deletion", "amplification"], "altered": 105, "tested": 515, "frequency": 20.39, "cohort_count": 2, "frequency_range": {"min": 14.57, "max": 20.39}, "major_variants": ["R80* (n=23)", "R58* (n=12)", "W110* (n=10)", "X153_splice (n=9)", "E120* (n=5)"], "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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 105/515 patients (20.39%).", "Without the 4 hypermutated patients: 103/511 (20.16%).", "Largest alteration is deep deletion: 159/517 (30.75%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 105, "tested": 515, "frequency": 20.39, "frequency_excl_hypermutated": 20.16, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 22, "tested": 151, "frequency": 14.57, "frequency_excl_hypermutated": 14.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 159, "tested": 517, "frequency": 30.75, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PIK3CA", "alteration_types": ["SNV / small indel", "amplification"], "altered": 90, "tested": 515, "frequency": 17.48, "cohort_count": 2, "frequency_range": {"min": 12.58, "max": 17.48}, "major_variants": ["E545K (n=26)", "E542K (n=19)", "H1047R (n=13)", "E726K (n=2)", "Q546R (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 90/515 patients (17.48%).", "Without the 4 hypermutated patients: 89/511 (17.42%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 90, "tested": 515, "frequency": 17.48, "frequency_excl_hypermutated": 17.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 19, "tested": 151, "frequency": 12.58, "frequency_excl_hypermutated": 12.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 41.93, "width": 16.34, "reference": 58.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 90, "tested": 515, "frequency": 17.48, "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": "EGFR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 13, "tested": 515, "frequency": 2.52, "cohort_count": 2, "frequency_range": {"min": 2.52, "max": 2.65}, "major_variants": ["D191N (n=1)", "G503S (n=1)", "A419P (n=1)", "I475V (n=1)", "P373Q (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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 13/515 patients (2.52%).", "Without the 4 hypermutated patients: 13/511 (2.54%).", "Largest alteration is amplification: 54/517 (10.44%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 13, "tested": 515, "frequency": 2.52, "frequency_excl_hypermutated": 2.54, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 4, "tested": 151, "frequency": 2.65, "frequency_excl_hypermutated": 2.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 34.8, "width": 1.0, "reference": 34.8, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 54, "tested": 517, "frequency": 10.44, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CD274", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 515, "frequency": 0.39, "cohort_count": 1, "frequency_range": {"min": 0.0, "max": 0.39}, "major_variants": ["F259L (n=1)", "E71K (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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 2/515 patients (0.39%).", "Without the 4 hypermutated patients: 2/511 (0.39%).", "Largest alteration is amplification: 23/517 (4.45%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 515, "frequency": 0.39, "frequency_excl_hypermutated": 0.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 0, "tested": 151, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 14.83, "width": 1.0, "reference": 14.83, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 23, "tested": 517, "frequency": 4.45, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PDCD1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 2, "tested": 515, "frequency": 0.39, "cohort_count": 2, "frequency_range": {"min": 0.39, "max": 0.66}, "major_variants": ["R112M (n=1)", "V239Rfs*6 (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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 2/515 patients (0.39%).", "Without the 4 hypermutated patients: 2/511 (0.39%).", "Largest alteration is deep deletion: 8/517 (1.55%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 515, "frequency": 0.39, "frequency_excl_hypermutated": 0.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 1, "tested": 151, "frequency": 0.66, "frequency_excl_hypermutated": 0.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.17, "width": 1.0, "reference": 5.17, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 8, "tested": 517, "frequency": 1.55, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NOTCH1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 88, "tested": 515, "frequency": 17.09, "cohort_count": 2, "frequency_range": {"min": 17.09, "max": 21.85}, "major_variants": ["E455K (n=3)", "R353C (n=2)", "A465T (n=2)", "G481C (n=1)", "Q513Hfs*116 (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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 88/515 patients (17.09%).", "Without the 4 hypermutated patients: 87/511 (17.03%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 88, "tested": 515, "frequency": 17.09, "frequency_excl_hypermutated": 17.03, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 33, "tested": 151, "frequency": 21.85, "frequency_excl_hypermutated": 21.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 56.97, "width": 15.86, "reference": 56.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 88, "tested": 515, "frequency": 17.09, "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": 111, "tested": 515, "frequency": 21.55, "cohort_count": 2, "frequency_range": {"min": 14.57, "max": 21.55}, "major_variants": ["S3373* (n=3)", "R937* (n=2)", "S2838* (n=2)", "R3400* (n=2)", "Q1694* (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 111/515 patients (21.55%).", "Without the 4 hypermutated patients: 111/511 (21.72%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 111, "tested": 515, "frequency": 21.55, "frequency_excl_hypermutated": 21.72, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 22, "tested": 151, "frequency": 14.57, "frequency_excl_hypermutated": 14.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 48.57, "width": 23.26, "reference": 71.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 111, "tested": 515, "frequency": 21.55, "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": "CCND1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 2, "tested": 515, "frequency": 0.39, "cohort_count": 2, "frequency_range": {"min": 0.39, "max": 0.66}, "major_variants": ["P287L (n=1)", "D282H (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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 2/515 patients (0.39%).", "Without the 4 hypermutated patients: 2/511 (0.39%).", "Largest alteration is amplification: 120/517 (23.21%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 2, "tested": 515, "frequency": 0.39, "frequency_excl_hypermutated": 0.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 1, "tested": 151, "frequency": 0.66, "frequency_excl_hypermutated": 0.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 77.37, "width": 1.0, "reference": 77.37, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 120, "tested": 517, "frequency": 23.21, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "HRAS", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 31, "tested": 515, "frequency": 6.02, "cohort_count": 2, "frequency_range": {"min": 5.96, "max": 6.02}, "major_variants": ["G13V (n=8)", "G12S (n=7)", "G13R (n=3)", "Q61L (n=3)", "G12D (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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 31/515 patients (6.02%).", "Without the 4 hypermutated patients: 30/511 (5.87%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 31, "tested": 515, "frequency": 6.02, "frequency_excl_hypermutated": 5.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 9, "tested": 151, "frequency": 5.96, "frequency_excl_hypermutated": 6.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.87, "width": 1.0, "reference": 20.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 31, "tested": 515, "frequency": 6.02, "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": "NFE2L2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 28, "tested": 515, "frequency": 5.44, "cohort_count": 2, "frequency_range": {"min": 5.3, "max": 5.44}, "major_variants": ["E79Q (n=3)", "D29H (n=3)", "E79K (n=3)", "D262E (n=1)", "R34P (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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 28/515 patients (5.44%).", "Without the 4 hypermutated patients: 28/511 (5.48%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 28, "tested": 515, "frequency": 5.44, "frequency_excl_hypermutated": 5.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 8, "tested": 151, "frequency": 5.3, "frequency_excl_hypermutated": 5.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.67, "width": 1.0, "reference": 18.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 28, "tested": 515, "frequency": 5.44, "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": "TERT", "alteration_types": ["SNV / small indel", "amplification"], "altered": 3, "tested": 515, "frequency": 0.58, "cohort_count": 2, "frequency_range": {"min": 0.58, "max": 1.32}, "major_variants": ["P771L (n=1)", "R248W (n=1)", "G915D (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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 3/515 patients (0.58%).", "Without the 4 hypermutated patients: 3/511 (0.59%).", "Largest alteration is amplification: 26/517 (5.03%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 3, "tested": 515, "frequency": 0.58, "frequency_excl_hypermutated": 0.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 2, "tested": 151, "frequency": 1.32, "frequency_excl_hypermutated": 1.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.77, "width": 1.0, "reference": 16.77, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 26, "tested": 517, "frequency": 5.03, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2D", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 77, "tested": 515, "frequency": 14.95, "cohort_count": 2, "frequency_range": {"min": 14.95, "max": 16.56}, "major_variants": ["Q2380* (n=2)", "R1252* (n=2)", "H5114Y (n=1)", "S654Pfs*276 (n=1)", "S2483C (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 77/515 patients (14.95%).", "Without the 4 hypermutated patients: 75/511 (14.68%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 77, "tested": 515, "frequency": 14.95, "frequency_excl_hypermutated": 14.68, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 25, "tested": 151, "frequency": 16.56, "frequency_excl_hypermutated": 16.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 49.83, "width": 5.37, "reference": 49.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 77, "tested": 515, "frequency": 14.95, "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", "deep deletion"], "altered": 60, "tested": 515, "frequency": 11.65, "cohort_count": 2, "frequency_range": {"min": 5.3, "max": 11.65}, "major_variants": ["R788* (n=2)", "I1873Kfs*18 (n=2)", "S707* (n=1)", "P1665L (n=1)", "E1575* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 60/515 patients (11.65%).", "Without the 4 hypermutated patients: 59/511 (11.55%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 60, "tested": 515, "frequency": 11.65, "frequency_excl_hypermutated": 11.55, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 8, "tested": 151, "frequency": 5.3, "frequency_excl_hypermutated": 4.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.67, "width": 21.16, "reference": 38.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 60, "tested": 515, "frequency": 11.65, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CASP8", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 55, "tested": 515, "frequency": 10.68, "cohort_count": 2, "frequency_range": {"min": 3.97, "max": 10.68}, "major_variants": ["Q524* (n=4)", "X243_splice (n=3)", "R494* (n=3)", "R472* (n=3)", "R127* (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 · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 55/515 patients (10.68%).", "Without the 4 hypermutated patients: 54/511 (10.57%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 55, "tested": 515, "frequency": 10.68, "frequency_excl_hypermutated": 10.57, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 6, "tested": 151, "frequency": 3.97, "frequency_excl_hypermutated": 4.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.23, "width": 22.37, "reference": 35.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 55, "tested": 515, "frequency": 10.68, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "HUWE1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 50, "tested": 515, "frequency": 9.71, "cohort_count": 1, "frequency_range": {"min": 9.71, "max": 9.71}, "major_variants": ["E3771K (n=2)", "E4177K (n=2)", "K4204del (n=2)", "H4339Y (n=1)", "G4370D (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 50/515 patients (9.71%).", "Without the 4 hypermutated patients: 48/511 (9.39%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 50, "tested": 515, "frequency": 9.71, "frequency_excl_hypermutated": 9.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 32.37, "width": 1.0, "reference": 32.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 50, "tested": 515, "frequency": 9.71, "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": "FAM135B", "alteration_types": ["SNV / small indel", "amplification"], "altered": 50, "tested": 515, "frequency": 9.71, "cohort_count": 1, "frequency_range": {"min": 9.71, "max": 9.71}, "major_variants": ["A418E (n=1)", "E1105Q (n=1)", "P549L (n=1)", "E289K (n=1)", "H1337Y (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 50/515 patients (9.71%).", "Without the 4 hypermutated patients: 47/511 (9.2%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 50, "tested": 515, "frequency": 9.71, "frequency_excl_hypermutated": 9.2, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 32.37, "width": 1.0, "reference": 32.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 50, "tested": 515, "frequency": 9.71, "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": "SI", "alteration_types": ["SNV / small indel", "amplification"], "altered": 49, "tested": 515, "frequency": 9.51, "cohort_count": 1, "frequency_range": {"min": 9.51, "max": 9.51}, "major_variants": ["I1343L (n=1)", "Y1063C (n=1)", "Q175E (n=1)", "Q1463H (n=1)", "I1271Nfs*3 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 49/515 patients (9.51%).", "Without the 4 hypermutated patients: 48/511 (9.39%).", "Largest alteration is amplification: 50/517 (9.67%) in the reference cohort's copy-number profile.", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 49, "tested": 515, "frequency": 9.51, "frequency_excl_hypermutated": 9.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 32.23, "width": 1.0, "reference": 32.23, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 50, "tested": 517, "frequency": 9.67, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RELN", "alteration_types": ["SNV / small indel", "amplification"], "altered": 47, "tested": 515, "frequency": 9.13, "cohort_count": 1, "frequency_range": {"min": 9.13, "max": 9.13}, "major_variants": ["M944K (n=1)", "V2679L (n=1)", "V2092M (n=1)", "G2273D (n=1)", "D2941V (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 47/515 patients (9.13%).", "Without the 4 hypermutated patients: 44/511 (8.61%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 47, "tested": 515, "frequency": 9.13, "frequency_excl_hypermutated": 8.61, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.43, "width": 1.0, "reference": 30.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 47, "tested": 515, "frequency": 9.13, "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": 44, "tested": 515, "frequency": 8.54, "cohort_count": 1, "frequency_range": {"min": 8.54, "max": 8.54}, "major_variants": ["X198_splice (n=1)", "R1292L (n=1)", "G794A (n=1)", "R598T (n=1)", "I385Tfs*32 (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 44/515 patients (8.54%).", "Without the 4 hypermutated patients: 43/511 (8.41%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 44, "tested": 515, "frequency": 8.54, "frequency_excl_hypermutated": 8.41, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 28.47, "width": 1.0, "reference": 28.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 44, "tested": 515, "frequency": 8.54, "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": "PCDH11X", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 39, "tested": 515, "frequency": 7.57, "cohort_count": 1, "frequency_range": {"min": 7.57, "max": 7.57}, "major_variants": ["A23T (n=2)", "D458H (n=1)", "S630* (n=1)", "M34I (n=1)", "A942D (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 39/515 patients (7.57%).", "Without the 4 hypermutated patients: 35/511 (6.85%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 39, "tested": 515, "frequency": 7.57, "frequency_excl_hypermutated": 6.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 25.23, "width": 1.0, "reference": 25.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 39, "tested": 515, "frequency": 7.57, "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": "LAMA2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 39, "tested": 515, "frequency": 7.57, "cohort_count": 1, "frequency_range": {"min": 7.57, "max": 7.57}, "major_variants": ["R2231S (n=1)", "G542V (n=1)", "E1637Q (n=1)", "P63H (n=1)", "E640* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 39/515 patients (7.57%).", "Without the 4 hypermutated patients: 36/511 (7.05%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 39, "tested": 515, "frequency": 7.57, "frequency_excl_hypermutated": 7.05, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 25.23, "width": 1.0, "reference": 25.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 39, "tested": 515, "frequency": 7.57, "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"], "altered": 38, "tested": 515, "frequency": 7.38, "cohort_count": 1, "frequency_range": {"min": 7.38, "max": 7.38}, "major_variants": ["I4701T (n=1)", "R3836W (n=1)", "R3671* (n=1)", "G2229* (n=1)", "T3325P (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 38/515 patients (7.38%).", "Without the 4 hypermutated patients: 36/511 (7.05%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 38, "tested": 515, "frequency": 7.38, "frequency_excl_hypermutated": 7.05, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 24.6, "width": 1.0, "reference": 24.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 38, "tested": 515, "frequency": 7.38, "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": "NAV3", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 37, "tested": 515, "frequency": 7.18, "cohort_count": 1, "frequency_range": {"min": 7.18, "max": 7.18}, "major_variants": ["K549E (n=1)", "R855Q (n=1)", "R832G (n=1)", "G1148C (n=1)", "R1529G (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 37/515 patients (7.18%).", "Without the 4 hypermutated patients: 36/511 (7.05%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 37, "tested": 515, "frequency": 7.18, "frequency_excl_hypermutated": 7.05, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.93, "width": 1.0, "reference": 23.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 37, "tested": 515, "frequency": 7.18, "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": "KMT2C", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 37, "tested": 515, "frequency": 7.18, "cohort_count": 2, "frequency_range": {"min": 7.18, "max": 9.93}, "major_variants": ["X395_splice (n=2)", "G1020V (n=1)", "R196Kfs*9 (n=1)", "S1867T (n=1)", "R1698S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 37/515 patients (7.18%).", "Without the 4 hypermutated patients: 35/511 (6.85%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 37, "tested": 515, "frequency": 7.18, "frequency_excl_hypermutated": 6.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 15, "tested": 151, "frequency": 9.93, "frequency_excl_hypermutated": 9.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.93, "width": 9.17, "reference": 23.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 37, "tested": 515, "frequency": 7.18, "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": "EP300", "alteration_types": ["SNV / small indel", "amplification"], "altered": 37, "tested": 515, "frequency": 7.18, "cohort_count": 2, "frequency_range": {"min": 4.64, "max": 7.18}, "major_variants": ["D1399N (n=5)", "C1164Y (n=2)", "X1224_splice (n=2)", "E1514K (n=2)", "N2379H (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 37/515 patients (7.18%).", "Without the 4 hypermutated patients: 36/511 (7.05%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 37, "tested": 515, "frequency": 7.18, "frequency_excl_hypermutated": 7.05, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 7, "tested": 151, "frequency": 4.64, "frequency_excl_hypermutated": 4.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.47, "width": 8.46, "reference": 23.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 37, "tested": 515, "frequency": 7.18, "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": "UNC13C", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 36, "tested": 515, "frequency": 6.99, "cohort_count": 1, "frequency_range": {"min": 6.99, "max": 6.99}, "major_variants": ["Q1248K (n=1)", "Q817K (n=1)", "R182Q (n=1)", "Q958* (n=1)", "K189N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 36/515 patients (6.99%).", "Without the 4 hypermutated patients: 35/511 (6.85%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 36, "tested": 515, "frequency": 6.99, "frequency_excl_hypermutated": 6.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.3, "width": 1.0, "reference": 23.3, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 36, "tested": 515, "frequency": 6.99, "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": "VPS13B", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 34, "tested": 515, "frequency": 6.6, "cohort_count": 1, "frequency_range": {"min": 6.6, "max": 6.6}, "major_variants": ["X403_splice (n=1)", "E1879K (n=1)", "Q3213H (n=1)", "H1446L (n=1)", "T1561S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 34/515 patients (6.6%).", "Without the 4 hypermutated patients: 31/511 (6.07%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 34, "tested": 515, "frequency": 6.6, "frequency_excl_hypermutated": 6.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 22.0, "width": 1.0, "reference": 22.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 34, "tested": 515, "frequency": 6.6, "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": "PRDM9", "alteration_types": ["SNV / small indel", "amplification"], "altered": 34, "tested": 515, "frequency": 6.6, "cohort_count": 1, "frequency_range": {"min": 6.6, "max": 6.6}, "major_variants": ["R77Q (n=2)", "G588R (n=1)", "V889F (n=1)", "Q400E (n=1)", "E193* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 34/515 patients (6.6%).", "Without the 4 hypermutated patients: 32/511 (6.26%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 34, "tested": 515, "frequency": 6.6, "frequency_excl_hypermutated": 6.26, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 22.0, "width": 1.0, "reference": 22.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 34, "tested": 515, "frequency": 6.6, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PKHD1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 33, "tested": 515, "frequency": 6.41, "cohort_count": 1, "frequency_range": {"min": 6.41, "max": 6.41}, "major_variants": ["S3977F (n=1)", "I1120T (n=1)", "W1248* (n=1)", "T777M (n=1)", "D170N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 33/515 patients (6.41%).", "Without the 4 hypermutated patients: 31/511 (6.07%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 33, "tested": 515, "frequency": 6.41, "frequency_excl_hypermutated": 6.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.37, "width": 1.0, "reference": 21.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 33, "tested": 515, "frequency": 6.41, "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": "PEG3", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 33, "tested": 515, "frequency": 6.41, "cohort_count": 1, "frequency_range": {"min": 6.41, "max": 6.41}, "major_variants": ["S792R (n=1)", "R651G (n=1)", "D1069Y (n=1)", "R889S (n=1)", "G1424R (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 33/515 patients (6.41%).", "Without the 4 hypermutated patients: 30/511 (5.87%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 33, "tested": 515, "frequency": 6.41, "frequency_excl_hypermutated": 5.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.37, "width": 1.0, "reference": 21.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 33, "tested": 515, "frequency": 6.41, "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": "NPAP1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 33, "tested": 515, "frequency": 6.41, "cohort_count": 1, "frequency_range": {"min": 6.41, "max": 6.41}, "major_variants": ["S528F (n=1)", "L437I (n=1)", "A134V (n=1)", "P119L (n=1)", "V114L (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 33/515 patients (6.41%).", "Without the 4 hypermutated patients: 30/511 (5.87%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 33, "tested": 515, "frequency": 6.41, "frequency_excl_hypermutated": 5.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.37, "width": 1.0, "reference": 21.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 33, "tested": 515, "frequency": 6.41, "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": "FMN2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 33, "tested": 515, "frequency": 6.41, "cohort_count": 1, "frequency_range": {"min": 6.41, "max": 6.41}, "major_variants": ["M1488I (n=1)", "K1648N (n=1)", "R94C (n=1)", "N1505I (n=1)", "S428L (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 33/515 patients (6.41%).", "Without the 4 hypermutated patients: 31/511 (6.07%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 33, "tested": 515, "frequency": 6.41, "frequency_excl_hypermutated": 6.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.37, "width": 1.0, "reference": 21.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 33, "tested": 515, "frequency": 6.41, "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": 33, "tested": 515, "frequency": 6.41, "cohort_count": 2, "frequency_range": {"min": 2.65, "max": 6.41}, "major_variants": ["R505G (n=6)", "R479Q (n=3)", "R543G (n=2)", "A502V (n=1)", "R465C (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 33/515 patients (6.41%).", "Without the 4 hypermutated patients: 33/511 (6.46%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 33, "tested": 515, "frequency": 6.41, "frequency_excl_hypermutated": 6.46, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 4, "tested": 151, "frequency": 2.65, "frequency_excl_hypermutated": 2.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.83, "width": 12.54, "reference": 21.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 33, "tested": 515, "frequency": 6.41, "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": 32, "tested": 515, "frequency": 6.21, "cohort_count": 1, "frequency_range": {"min": 6.21, "max": 6.21}, "major_variants": ["F1838L (n=1)", "Q3697* (n=1)", "P1884H (n=1)", "N2102Kfs*35 (n=1)", "D1272G (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 32/515 patients (6.21%).", "Without the 4 hypermutated patients: 30/511 (5.87%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 32, "tested": 515, "frequency": 6.21, "frequency_excl_hypermutated": 5.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.7, "width": 1.0, "reference": 20.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 32, "tested": 515, "frequency": 6.21, "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": "AKAP9", "alteration_types": ["SNV / small indel", "amplification"], "altered": 32, "tested": 515, "frequency": 6.21, "cohort_count": 1, "frequency_range": {"min": 6.21, "max": 6.21}, "major_variants": ["D3631H (n=1)", "E1344Q (n=1)", "Q413R (n=1)", "R3787* (n=1)", "E2670Q (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 32/515 patients (6.21%).", "Without the 4 hypermutated patients: 30/511 (5.87%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 32, "tested": 515, "frequency": 6.21, "frequency_excl_hypermutated": 5.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.7, "width": 1.0, "reference": 20.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 32, "tested": 515, "frequency": 6.21, "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": "THSD7A", "alteration_types": ["SNV / small indel", "amplification"], "altered": 31, "tested": 515, "frequency": 6.02, "cohort_count": 1, "frequency_range": {"min": 6.02, "max": 6.02}, "major_variants": ["R1046C (n=2)", "C728F (n=2)", "X1306_splice (n=2)", "V1571A (n=1)", "D1654V (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 31/515 patients (6.02%).", "Without the 4 hypermutated patients: 29/511 (5.68%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 31, "tested": 515, "frequency": 6.02, "frequency_excl_hypermutated": 5.68, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.07, "width": 1.0, "reference": 20.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 31, "tested": 515, "frequency": 6.02, "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": "MROH2B", "alteration_types": ["SNV / small indel", "amplification"], "altered": 31, "tested": 515, "frequency": 6.02, "cohort_count": 1, "frequency_range": {"min": 6.02, "max": 6.02}, "major_variants": ["G532R (n=1)", "W896L (n=1)", "Q723E (n=1)", "T1173I (n=1)", "R223W (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 31/515 patients (6.02%).", "Without the 4 hypermutated patients: 28/511 (5.48%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 31, "tested": 515, "frequency": 6.02, "frequency_excl_hypermutated": 5.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.07, "width": 1.0, "reference": 20.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 31, "tested": 515, "frequency": 6.02, "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": "LRP1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 31, "tested": 515, "frequency": 6.02, "cohort_count": 1, "frequency_range": {"min": 6.02, "max": 6.02}, "major_variants": ["N615S (n=1)", "V268M (n=1)", "S3955L (n=1)", "V1959L (n=1)", "G1467D (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 31/515 patients (6.02%).", "Without the 4 hypermutated patients: 30/511 (5.87%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 31, "tested": 515, "frequency": 6.02, "frequency_excl_hypermutated": 5.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.07, "width": 1.0, "reference": 20.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 31, "tested": 515, "frequency": 6.02, "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": "CDH10", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 31, "tested": 515, "frequency": 6.02, "cohort_count": 1, "frequency_range": {"min": 6.02, "max": 6.02}, "major_variants": ["D481V (n=1)", "T495N (n=1)", "R449L (n=1)", "P270A (n=1)", "T298A (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 31/515 patients (6.02%).", "Without the 4 hypermutated patients: 29/511 (5.68%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 31, "tested": 515, "frequency": 6.02, "frequency_excl_hypermutated": 5.68, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.07, "width": 1.0, "reference": 20.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 31, "tested": 515, "frequency": 6.02, "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": "ASPM", "alteration_types": ["SNV / small indel", "amplification"], "altered": 31, "tested": 515, "frequency": 6.02, "cohort_count": 1, "frequency_range": {"min": 6.02, "max": 6.02}, "major_variants": ["E17D (n=1)", "R1765T (n=1)", "Q1800H (n=1)", "V571L (n=1)", "R1405H (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 31/515 patients (6.02%).", "Without the 4 hypermutated patients: 31/511 (6.07%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 31, "tested": 515, "frequency": 6.02, "frequency_excl_hypermutated": 6.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.07, "width": 1.0, "reference": 20.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 31, "tested": 515, "frequency": 6.02, "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": "SCN1A", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 30, "tested": 515, "frequency": 5.83, "cohort_count": 1, "frequency_range": {"min": 5.83, "max": 5.83}, "major_variants": ["G1470V (n=1)", "V1582A (n=1)", "F1718L (n=1)", "T1247M (n=1)", "H698Q (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 30/515 patients (5.83%).", "Without the 4 hypermutated patients: 29/511 (5.68%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 30, "tested": 515, "frequency": 5.83, "frequency_excl_hypermutated": 5.68, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.43, "width": 1.0, "reference": 19.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 515, "frequency": 5.83, "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": "RNF213", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 30, "tested": 515, "frequency": 5.83, "cohort_count": 1, "frequency_range": {"min": 5.83, "max": 5.83}, "major_variants": ["E4152K (n=1)", "M2419I (n=1)", "Q2176K (n=1)", "Q5080E (n=1)", "E3844K (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 30/515 patients (5.83%).", "Without the 4 hypermutated patients: 29/511 (5.68%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 30, "tested": 515, "frequency": 5.83, "frequency_excl_hypermutated": 5.68, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.43, "width": 1.0, "reference": 19.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 515, "frequency": 5.83, "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": "MDN1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 30, "tested": 515, "frequency": 5.83, "cohort_count": 1, "frequency_range": {"min": 5.83, "max": 5.83}, "major_variants": ["R2957S (n=1)", "E1802V (n=1)", "E1542K (n=1)", "K717T (n=1)", "V4171I (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 30/515 patients (5.83%).", "Without the 4 hypermutated patients: 28/511 (5.48%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 30, "tested": 515, "frequency": 5.83, "frequency_excl_hypermutated": 5.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.43, "width": 1.0, "reference": 19.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 515, "frequency": 5.83, "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": "DCHS2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 30, "tested": 515, "frequency": 5.83, "cohort_count": 1, "frequency_range": {"min": 5.83, "max": 5.83}, "major_variants": ["A1138S (n=1)", "A2536S (n=1)", "I487L (n=1)", "Y2860Tfs*10 (n=1)", "K381* (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 30/515 patients (5.83%).", "Without the 4 hypermutated patients: 27/511 (5.28%).", "Observed in 1 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 30, "tested": 515, "frequency": 5.83, "frequency_excl_hypermutated": 5.28, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "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": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.43, "width": 1.0, "reference": 19.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 515, "frequency": 5.83, "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": "CREBBP", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 30, "tested": 515, "frequency": 5.83, "cohort_count": 2, "frequency_range": {"min": 5.3, "max": 5.83}, "major_variants": ["R1446C (n=2)", "L1556V (n=1)", "Q355Tfs*12 (n=1)", "E1023K (n=1)", "L1251M (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas), 30/515 patients (5.83%).", "Without the 4 hypermutated patients: 27/511 (5.28%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "cohort_name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "altered": 30, "tested": 515, "frequency": 5.83, "frequency_excl_hypermutated": 5.28, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "515/523", "coverage_note": null, "source_id": "hnsc_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "hnc_mskcc_2016", "cohort_name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "altered": 8, "tested": 151, "frequency": 5.3, "frequency_excl_hypermutated": 5.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "151/151", "coverage_note": null, "source_id": "hnc_mskcc_2016", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.67, "width": 1.76, "reference": 19.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 515, "frequency": 5.83, "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"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "CDKN2A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "CDKN2A deep deletion", "genomic_coordinate": null, "observed": 159, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 30.75, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CCND1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CCND1 amplification", "genomic_coordinate": null, "observed": 120, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 23.21, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PIK3CA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PIK3CA amplification", "genomic_coordinate": null, "observed": 81, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 15.67, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "EGFR", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "EGFR amplification", "genomic_coordinate": null, "observed": 54, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 10.44, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SI", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SI amplification", "genomic_coordinate": null, "observed": 50, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 9.67, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FAM135B", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FAM135B amplification", "genomic_coordinate": null, "observed": 37, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 7.16, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FAT1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "FAT1 deep deletion", "genomic_coordinate": null, "observed": 35, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.77, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CDKN2A", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "CDKN2A deep deletion", "genomic_coordinate": null, "observed": 10, "observed_status": "observed", "observed_unit": "patients", "tested": 151, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.62, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnc_mskcc_2016"], "source_ids": ["hnc_mskcc_2016_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CCND1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CCND1 amplification", "genomic_coordinate": null, "observed": 8, "observed_status": "observed", "observed_unit": "patients", "tested": 151, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.3, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnc_mskcc_2016"], "source_ids": ["hnc_mskcc_2016_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TERT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TERT amplification", "genomic_coordinate": null, "observed": 26, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.03, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "EGFR", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "EGFR amplification", "genomic_coordinate": null, "observed": 7, "observed_status": "observed", "observed_unit": "patients", "tested": 151, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.64, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnc_mskcc_2016"], "source_ids": ["hnc_mskcc_2016_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CD274", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CD274 amplification", "genomic_coordinate": null, "observed": 23, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.45, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "VPS13B", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "VPS13B amplification", "genomic_coordinate": null, "observed": 21, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.06, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "AKAP9", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "AKAP9 amplification", "genomic_coordinate": null, "observed": 20, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.87, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MROH2B", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MROH2B amplification", "genomic_coordinate": null, "observed": 20, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.87, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NFE2L2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "NFE2L2 amplification", "genomic_coordinate": null, "observed": 17, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.29, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "RELN", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "RELN amplification", "genomic_coordinate": null, "observed": 16, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.09, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PRDM9", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PRDM9 amplification", "genomic_coordinate": null, "observed": 15, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.9, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CDH10", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CDH10 amplification", "genomic_coordinate": null, "observed": 15, "observed_status": "observed", "observed_unit": "patients", "tested": 517, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.9, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnsc_tcga_pan_can_atlas_2018"], "source_ids": ["hnsc_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PIK3CA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PIK3CA amplification", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 151, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.65, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnc_mskcc_2016"], "source_ids": ["hnc_mskcc_2016_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CD274", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CD274 amplification", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 151, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.65, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["hnc_mskcc_2016"], "source_ids": ["hnc_mskcc_2016_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": 2, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source": "cBioPortal", "accession": "hnsc_tcga_pan_can_atlas_2018", "patients": {"value": 515, "status": "observed", "unit": "patients"}, "samples": {"value": 515, "status": "observed", "unit": "samples"}, "disease_subtype": "Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (515)", "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": "hnsc_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 515, "patients_in_roster": 515, "frequencies_computed": true, "samples_sequenced": 515, "samples_in_study": 523, "hypermutated_patients": 4, "median_mutations_per_sample": 99, "reason": null}}, {"name": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source": "cBioPortal", "accession": "hnc_mskcc_2016", "patients": {"value": 151, "status": "observed", "unit": "patients"}, "samples": {"value": 151, "status": "observed", "unit": "samples"}, "disease_subtype": "Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "assay_type": "targeted panel", "sequencing_method": "IMPACT410 (151)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "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": "hnc_mskcc_2016", "is_demo": false, "assay_coverage": {"patients_with_calls": 151, "patients_in_roster": 151, "frequencies_computed": true, "samples_sequenced": 151, "samples_in_study": 151, "hypermutated_patients": 1, "median_mutations_per_sample": 3, "reason": null}}], "sources": [{"source_name": "cBioPortal · Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018", "source_record_id": "hnsc_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 · Recurrent and Metastatic Head & Neck Cancer (MSK, JAMA Oncol 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=hnc_mskcc_2016", "source_record_id": "hnc_mskcc_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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 Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) (515 sequenced patients, exome or genome), the most frequently altered of the 46 genes shown are TP53 68.54%, CDKN2A 30.75% (deep deletion), CCND1 23.21% (amplification), FAT1 21.55%, PIK3CA 17.48%. Each figure divides by the patients on whom that gene could be called.", "4 of 515 patients are hypermutated (more than 990 non-silent mutations, ten times the cohort median of 99); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 1 are altered in under 2% of this cohort (PDCD1): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "TP53 is mutated in 353 of 515 patients in Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas).", "numerator": 353, "denominator": 515, "frequency": 68.54, "cohorts": 2, "evidence_confidence": "moderate", "source": "hnsc_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "CDKN2A is deleted in 159 of 517 patients in Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas).", "numerator": 159, "denominator": 517, "frequency": 30.75, "cohorts": 2, "evidence_confidence": "moderate", "source": "hnsc_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "CCND1 is amplified in 120 of 517 patients in Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas).", "numerator": 120, "denominator": 517, "frequency": 23.21, "cohorts": 2, "evidence_confidence": "moderate", "source": "hnsc_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": "hnsc_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 68.54, "altered": 353, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 40.4, "altered": 61, "tested": 151, "note": null}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 20.39, "altered": 105, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 14.57, "altered": 22, "tested": 151, "note": null}]}, {"label": "CDKN2A", "kind": "deep deletion", "gene": "CDKN2A", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 30.75, "altered": 159, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 6.62, "altered": 10, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.48, "altered": 90, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 12.58, "altered": 19, "tested": 151, "note": null}]}, {"label": "PIK3CA", "kind": "amplification", "gene": "PIK3CA", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 15.67, "altered": 81, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 2.65, "altered": 4, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "EGFR", "kind": "SNV / small indel", "gene": "EGFR", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.52, "altered": 13, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 2.65, "altered": 4, "tested": 151, "note": null}]}, {"label": "EGFR", "kind": "amplification", "gene": "EGFR", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.44, "altered": 54, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 4.64, "altered": 7, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CD274", "kind": "SNV / small indel", "gene": "CD274", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.39, "altered": 2, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 151, "note": null}]}, {"label": "CD274", "kind": "amplification", "gene": "CD274", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.45, "altered": 23, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 2.65, "altered": 4, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PDCD1", "kind": "SNV / small indel", "gene": "PDCD1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.39, "altered": 2, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 0.66, "altered": 1, "tested": 151, "note": null}]}, {"label": "NOTCH1", "kind": "SNV / small indel", "gene": "NOTCH1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 17.09, "altered": 88, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 21.85, "altered": 33, "tested": 151, "note": null}]}, {"label": "FAT1", "kind": "SNV / small indel", "gene": "FAT1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 21.55, "altered": 111, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 14.57, "altered": 22, "tested": 151, "note": null}]}, {"label": "FAT1", "kind": "deep deletion", "gene": "FAT1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.77, "altered": 35, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 0.66, "altered": 1, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CCND1", "kind": "SNV / small indel", "gene": "CCND1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.39, "altered": 2, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 0.66, "altered": 1, "tested": 151, "note": null}]}, {"label": "CCND1", "kind": "amplification", "gene": "CCND1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 23.21, "altered": 120, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 5.3, "altered": 8, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "HRAS", "kind": "SNV / small indel", "gene": "HRAS", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.02, "altered": 31, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 5.96, "altered": 9, "tested": 151, "note": null}]}, {"label": "NFE2L2", "kind": "SNV / small indel", "gene": "NFE2L2", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.44, "altered": 28, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 5.3, "altered": 8, "tested": 151, "note": null}]}, {"label": "NFE2L2", "kind": "amplification", "gene": "NFE2L2", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.29, "altered": 17, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TERT", "kind": "SNV / small indel", "gene": "TERT", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.58, "altered": 3, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": null}]}, {"label": "TERT", "kind": "amplification", "gene": "TERT", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.03, "altered": 26, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 1.32, "altered": 2, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 14.95, "altered": 77, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 16.56, "altered": 25, "tested": 151, "note": null}]}, {"label": "NSD1", "kind": "SNV / small indel", "gene": "NSD1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.65, "altered": 60, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 5.3, "altered": 8, "tested": 151, "note": null}]}, {"label": "CASP8", "kind": "SNV / small indel", "gene": "CASP8", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.68, "altered": 55, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 3.97, "altered": 6, "tested": 151, "note": null}]}, {"label": "HUWE1", "kind": "SNV / small indel", "gene": "HUWE1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.71, "altered": 50, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FAM135B", "kind": "SNV / small indel", "gene": "FAM135B", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.71, "altered": 50, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FAM135B", "kind": "amplification", "gene": "FAM135B", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.16, "altered": 37, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SI", "kind": "SNV / small indel", "gene": "SI", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.51, "altered": 49, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SI", "kind": "amplification", "gene": "SI", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.67, "altered": 50, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "RELN", "kind": "SNV / small indel", "gene": "RELN", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 9.13, "altered": 47, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RELN", "kind": "amplification", "gene": "RELN", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.09, "altered": 16, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PCDH15", "kind": "SNV / small indel", "gene": "PCDH15", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.54, "altered": 44, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PCDH11X", "kind": "SNV / small indel", "gene": "PCDH11X", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.57, "altered": 39, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "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": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.57, "altered": 39, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "HERC2", "kind": "SNV / small indel", "gene": "HERC2", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.38, "altered": 38, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NAV3", "kind": "SNV / small indel", "gene": "NAV3", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.18, "altered": 37, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.18, "altered": 37, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 9.93, "altered": 15, "tested": 151, "note": null}]}, {"label": "EP300", "kind": "SNV / small indel", "gene": "EP300", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.18, "altered": 37, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 4.64, "altered": 7, "tested": 151, "note": null}]}, {"label": "UNC13C", "kind": "SNV / small indel", "gene": "UNC13C", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.99, "altered": 36, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "VPS13B", "kind": "SNV / small indel", "gene": "VPS13B", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.6, "altered": 34, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "VPS13B", "kind": "amplification", "gene": "VPS13B", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.06, "altered": 21, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PRDM9", "kind": "SNV / small indel", "gene": "PRDM9", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.6, "altered": 34, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PRDM9", "kind": "amplification", "gene": "PRDM9", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.9, "altered": 15, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PKHD1", "kind": "SNV / small indel", "gene": "PKHD1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.41, "altered": 33, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "PEG3", "kind": "SNV / small indel", "gene": "PEG3", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.41, "altered": 33, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NPAP1", "kind": "SNV / small indel", "gene": "NPAP1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.41, "altered": 33, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FMN2", "kind": "SNV / small indel", "gene": "FMN2", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.41, "altered": 33, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "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": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.41, "altered": 33, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 2.65, "altered": 4, "tested": 151, "note": null}]}, {"label": "FAT2", "kind": "SNV / small indel", "gene": "FAT2", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.21, "altered": 32, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "AKAP9", "kind": "SNV / small indel", "gene": "AKAP9", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.21, "altered": 32, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "AKAP9", "kind": "amplification", "gene": "AKAP9", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.87, "altered": 20, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "THSD7A", "kind": "SNV / small indel", "gene": "THSD7A", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.02, "altered": 31, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MROH2B", "kind": "SNV / small indel", "gene": "MROH2B", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.02, "altered": 31, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MROH2B", "kind": "amplification", "gene": "MROH2B", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.87, "altered": 20, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "LRP1", "kind": "SNV / small indel", "gene": "LRP1", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.02, "altered": 31, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CDH10", "kind": "SNV / small indel", "gene": "CDH10", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.02, "altered": 31, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CDH10", "kind": "amplification", "gene": "CDH10", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.9, "altered": 15, "tested": 517, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "hnc_mskcc_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 151, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ASPM", "kind": "SNV / small indel", "gene": "ASPM", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.02, "altered": 31, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SCN1A", "kind": "SNV / small indel", "gene": "SCN1A", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.83, "altered": 30, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RNF213", "kind": "SNV / small indel", "gene": "RNF213", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.83, "altered": 30, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "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": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.83, "altered": 30, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "DCHS2", "kind": "SNV / small indel", "gene": "DCHS2", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.83, "altered": 30, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "hnsc_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.83, "altered": 30, "tested": 515, "note": null}, {"cohort": "hnc_mskcc_2016", "status": "observed", "frequency": 5.3, "altered": 8, "tested": 151, "note": null}]}]}