{"disease": {"name": "Nasopharyngeal carcinoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "npc"}, "updated_at": "2026-09-18", "genome_builds": ["hg19"], "cohort_count": 1, "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": "CD274", "alteration_types": [], "altered": 0, "tested": 56, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 0/56 patients (0.0%).", "Without the 1 hypermutated patients: 0/55 (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 0, "tested": 56, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 56, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "PDCD1", "alteration_types": [], "altered": 0, "tested": 56, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 0/56 patients (0.0%).", "Without the 1 hypermutated patients: 0/55 (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 0, "tested": 56, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 56, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "EGFR", "alteration_types": [], "altered": 0, "tested": 56, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 0/56 patients (0.0%).", "Without the 1 hypermutated patients: 0/55 (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 0, "tested": 56, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 56, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "CDKN2A", "alteration_types": [], "altered": 0, "tested": 56, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 0/56 patients (0.0%).", "Without the 1 hypermutated patients: 0/55 (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 0, "tested": 56, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 56, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "NFKBIA", "alteration_types": ["SNV / small indel"], "altered": 1, "tested": 56, "frequency": 1.79, "cohort_count": 1, "frequency_range": {"min": 1.79, "max": 1.79}, "major_variants": ["L148P (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 1/56 patients (1.79%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 1, "tested": 56, "frequency": 1.79, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.97, "width": 1.0, "reference": 5.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 56, "frequency": 1.79, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CYLD", "alteration_types": [], "altered": 0, "tested": 56, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 0/56 patients (0.0%).", "Without the 1 hypermutated patients: 0/55 (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 0, "tested": 56, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 56, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "TRAF3", "alteration_types": ["SNV / small indel"], "altered": 1, "tested": 56, "frequency": 1.79, "cohort_count": 1, "frequency_range": {"min": 1.79, "max": 1.79}, "major_variants": ["L440R (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 1/56 patients (1.79%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 1, "tested": 56, "frequency": 1.79, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.97, "width": 1.0, "reference": 5.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 56, "frequency": 1.79, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PIK3CA", "alteration_types": ["SNV / small indel"], "altered": 1, "tested": 56, "frequency": 1.79, "cohort_count": 1, "frequency_range": {"min": 1.79, "max": 1.79}, "major_variants": ["E545K (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 1/56 patients (1.79%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 1, "tested": 56, "frequency": 1.79, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.97, "width": 1.0, "reference": 5.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 56, "frequency": 1.79, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 56, "frequency": 12.5, "cohort_count": 1, "frequency_range": {"min": 12.5, "max": 12.5}, "major_variants": ["R175H (n=1)", "A161T (n=1)", "E285K (n=1)", "S314C (n=1)", "R280T (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 7/56 patients (12.5%).", "Without the 1 hypermutated patients: 6/55 (10.91%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 7, "tested": 56, "frequency": 12.5, "frequency_excl_hypermutated": 10.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 41.67, "width": 1.0, "reference": 41.67, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 56, "frequency": 12.5, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2D", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 56, "frequency": 5.36, "cohort_count": 1, "frequency_range": {"min": 5.36, "max": 5.36}, "major_variants": ["R598H (n=1)", "G5295R (n=1)", "Q3608* (n=1)", "S633L (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 3/56 patients (5.36%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 3, "tested": 56, "frequency": 5.36, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.87, "width": 1.0, "reference": 17.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 56, "frequency": 5.36, "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": "VEGFA", "alteration_types": [], "altered": 0, "tested": 56, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 0/56 patients (0.0%).", "Without the 1 hypermutated patients: 0/55 (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 0, "tested": 56, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 56, "frequency": 0.0, "is_mutation": true}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "MTOR", "alteration_types": ["SNV / small indel"], "altered": 1, "tested": 56, "frequency": 1.79, "cohort_count": 1, "frequency_range": {"min": 1.79, "max": 1.79}, "major_variants": ["A1778S (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 1/56 patients (1.79%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 1, "tested": 56, "frequency": 1.79, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.97, "width": 1.0, "reference": 5.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 56, "frequency": 1.79, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TFAP2D", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 56, "frequency": 5.36, "cohort_count": 1, "frequency_range": {"min": 5.36, "max": 5.36}, "major_variants": ["C212F (n=1)", "G418S (n=1)", "A428D (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 3/56 patients (5.36%).", "Without the 1 hypermutated patients: 3/55 (5.45%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 3, "tested": 56, "frequency": 5.36, "frequency_excl_hypermutated": 5.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.87, "width": 1.0, "reference": 17.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 56, "frequency": 5.36, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TET2", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 56, "frequency": 5.36, "cohort_count": 1, "frequency_range": {"min": 5.36, "max": 5.36}, "major_variants": ["Q1138* (n=1)", "S1591R (n=1)", "S835* (n=1)", "S657* (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 3/56 patients (5.36%).", "Without the 1 hypermutated patients: 3/55 (5.45%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 3, "tested": 56, "frequency": 5.36, "frequency_excl_hypermutated": 5.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.87, "width": 1.0, "reference": 17.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 56, "frequency": 5.36, "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": "SRCAP", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 56, "frequency": 5.36, "cohort_count": 1, "frequency_range": {"min": 5.36, "max": 5.36}, "major_variants": ["R2723H (n=1)", "R362Efs*18 (n=1)", "T2994N (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 3/56 patients (5.36%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 3, "tested": 56, "frequency": 5.36, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.87, "width": 1.0, "reference": 17.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 56, "frequency": 5.36, "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": "PTPRS", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 56, "frequency": 5.36, "cohort_count": 1, "frequency_range": {"min": 5.36, "max": 5.36}, "major_variants": ["T1491M (n=1)", "R1162C (n=1)", "G1861V (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 3/56 patients (5.36%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 3, "tested": 56, "frequency": 5.36, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.87, "width": 1.0, "reference": 17.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 56, "frequency": 5.36, "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": "IGFN1", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 56, "frequency": 5.36, "cohort_count": 1, "frequency_range": {"min": 5.36, "max": 5.36}, "major_variants": ["D2249G (n=2)", "K1289R (n=1)", "K1563E (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 3/56 patients (5.36%).", "Without the 1 hypermutated patients: 3/55 (5.45%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 3, "tested": 56, "frequency": 5.36, "frequency_excl_hypermutated": 5.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.87, "width": 1.0, "reference": 17.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 56, "frequency": 5.36, "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": "FRY", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 56, "frequency": 5.36, "cohort_count": 1, "frequency_range": {"min": 5.36, "max": 5.36}, "major_variants": ["P49S (n=1)", "R1197* (n=1)", "E942Q (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 3/56 patients (5.36%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 3, "tested": 56, "frequency": 5.36, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.87, "width": 1.0, "reference": 17.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 56, "frequency": 5.36, "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"], "altered": 3, "tested": 56, "frequency": 5.36, "cohort_count": 1, "frequency_range": {"min": 5.36, "max": 5.36}, "major_variants": ["T212I (n=1)", "G3472V (n=1)", "T2515S (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 3/56 patients (5.36%).", "Without the 1 hypermutated patients: 3/55 (5.45%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 3, "tested": 56, "frequency": 5.36, "frequency_excl_hypermutated": 5.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.87, "width": 1.0, "reference": 17.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 56, "frequency": 5.36, "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": "BAP1", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 56, "frequency": 5.36, "cohort_count": 1, "frequency_range": {"min": 5.36, "max": 5.36}, "major_variants": ["H169Y (n=1)", "X577_splice (n=1)", "N78S (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 3/56 patients (5.36%).", "Without the 1 hypermutated patients: 3/55 (5.45%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 3, "tested": 56, "frequency": 5.36, "frequency_excl_hypermutated": 5.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.87, "width": 1.0, "reference": 17.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 56, "frequency": 5.36, "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": "AQP7", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 56, "frequency": 5.36, "cohort_count": 1, "frequency_range": {"min": 5.36, "max": 5.36}, "major_variants": ["L231P (n=2)", "G180R (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 3/56 patients (5.36%).", "Without the 1 hypermutated patients: 3/55 (5.45%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 3, "tested": 56, "frequency": 5.36, "frequency_excl_hypermutated": 5.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.87, "width": 1.0, "reference": 17.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 56, "frequency": 5.36, "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": "ZNHIT2", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["N348I (n=1)", "E261K (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "ZFPM2", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["P637S (n=1)", "D906N (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "WDFY3", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["R2541H (n=1)", "Y494H (n=1)", "V1569D (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "USP43", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["P564S (n=1)", "S1121C (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "USP34", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["S1283L (n=1)", "D3140N (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "USP29", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["I742V (n=1)", "R348K (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "UNC13A", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["G870D (n=1)", "R120H (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "TSHZ3", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["C391R (n=1)", "P900S (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "TNXB", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["R294C (n=1)", "G561W (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "TNKS", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["A903V (n=1)", "E633* (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "TET1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["D1977G (n=1)", "S1976Y (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "SVIL", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["E1416G (n=1)", "Q2043K (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "STXBP6", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["R179* (n=1)", "E105Q (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "STAB1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["R2141H (n=1)", "L2342I (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "SPTBN1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["A207S (n=1)", "L488F (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "SPG11", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["R1992L (n=1)", "S1509* (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "SEMA6C", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["G560R (n=1)", "V331I (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "SEMA6A", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["R308C (n=1)", "L281F (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "SEC16A", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["A1089T (n=1)", "R1115W (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "SATB1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["Q35H (n=1)", "K232Q (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "RPTN", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["S328G (n=1)", "N371D (n=1)", "R154G (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "PSIP1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["R404G (n=1)", "A357G (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "PRUNE2", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["R2799Q (n=1)", "P1012H (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "PRSS3", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["G265R (n=1)", "S239N (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "PRG4", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["G1238R (n=1)", "S312N (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "PHIP", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["S645N (n=1)", "S1689C (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "PHF3", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["L375S (n=1)", "C735W (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "PEG3", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["P1324T (n=1)", "R301W (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 2/55 (3.64%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 3.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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": "PEAK1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 56, "frequency": 3.57, "cohort_count": 1, "frequency_range": {"min": 3.57, "max": 3.57}, "major_variants": ["T449I (n=1)", "S370C (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 · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014), 2/56 patients (3.57%).", "Without the 1 hypermutated patients: 1/55 (1.82%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "npc_nusingapore", "cohort_name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "altered": 2, "tested": 56, "frequency": 3.57, "frequency_excl_hypermutated": 1.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "56/56", "coverage_note": null, "source_id": "npc_nusingapore", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.9, "width": 1.0, "reference": 11.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 56, "frequency": 3.57, "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"}], "variants": [], "genomic_events": [], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 1, "total_cohorts": 1}, {"modality": "Copy number (discrete)", "available_cohorts": 0, "total_cohorts": 1}, {"modality": "Structural variant (present, not read)", "available_cohorts": 0, "total_cohorts": 1}], "chromosome_summary": [], "cohorts": [{"name": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source": "cBioPortal", "accession": "npc_nusingapore", "patients": {"value": 56, "status": "observed", "unit": "patients"}, "samples": {"value": 56, "status": "observed", "unit": "samples"}, "disease_subtype": "Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "assay_type": "exome or genome", "sequencing_method": "WES (56)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "npc_nusingapore", "is_demo": false, "assay_coverage": {"patients_with_calls": 56, "patients_in_roster": 56, "frequencies_computed": true, "samples_sequenced": 56, "samples_in_study": 56, "hypermutated_patients": 1, "median_mutations_per_sample": 16.5, "reason": null}}], "sources": [{"source_name": "cBioPortal · Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014)", "source_url": "https://www.cbioportal.org/study/summary?id=npc_nusingapore", "source_record_id": "npc_nusingapore", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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 Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014) (56 sequenced patients, exome or genome), the most frequently altered of the 50 genes shown are TP53 12.5%, KMT2D 5.36%, TFAP2D 5.36%, TET2 5.36%, SRCAP 5.36%. Each figure divides by the patients on whom that gene could be called.", "1 of 56 patients are hypermutated (more than 165 non-silent mutations, ten times the cohort median of 16); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 10 are altered in under 2% of this cohort (CD274, PDCD1, EGFR, CDKN2A, NFKBIA, CYLD, TRAF3, PIK3CA, VEGFA, MTOR): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "1 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 7 of 56 patients in Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014).", "numerator": 7, "denominator": 56, "frequency": 12.5, "cohorts": 1, "evidence_confidence": "moderate", "source": "npc_nusingapore", "retrieved_at": "2026-09-18"}, {"finding": "KMT2D is mutated in 3 of 56 patients in Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014).", "numerator": 3, "denominator": 56, "frequency": 5.36, "cohorts": 1, "evidence_confidence": "moderate", "source": "npc_nusingapore", "retrieved_at": "2026-09-18"}, {"finding": "TFAP2D is mutated in 3 of 56 patients in Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014).", "numerator": 3, "denominator": 56, "frequency": 5.36, "cohorts": 1, "evidence_confidence": "moderate", "source": "npc_nusingapore", "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": "npc_nusingapore", "region_events": [], "matrix": [{"label": "CD274", "kind": "SNV / small indel", "gene": "CD274", "cells": [{"cohort": "npc_nusingapore", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 56, "note": null}]}, {"label": "PDCD1", "kind": "SNV / small indel", "gene": "PDCD1", "cells": [{"cohort": "npc_nusingapore", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 56, "note": null}]}, {"label": "EGFR", "kind": "SNV / small indel", "gene": "EGFR", "cells": [{"cohort": "npc_nusingapore", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 56, "note": null}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "npc_nusingapore", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 56, "note": null}]}, {"label": "NFKBIA", "kind": "SNV / small indel", "gene": "NFKBIA", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 1.79, "altered": 1, "tested": 56, "note": null}]}, {"label": "CYLD", "kind": "SNV / small indel", "gene": "CYLD", "cells": [{"cohort": "npc_nusingapore", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 56, "note": null}]}, {"label": "TRAF3", "kind": "SNV / small indel", "gene": "TRAF3", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 1.79, "altered": 1, "tested": 56, "note": null}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 1.79, "altered": 1, "tested": 56, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 12.5, "altered": 7, "tested": 56, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 5.36, "altered": 3, "tested": 56, "note": null}]}, {"label": "VEGFA", "kind": "SNV / small indel", "gene": "VEGFA", "cells": [{"cohort": "npc_nusingapore", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 56, "note": null}]}, {"label": "MTOR", "kind": "SNV / small indel", "gene": "MTOR", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 1.79, "altered": 1, "tested": 56, "note": null}]}, {"label": "TFAP2D", "kind": "SNV / small indel", "gene": "TFAP2D", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 5.36, "altered": 3, "tested": 56, "note": null}]}, {"label": "TET2", "kind": "SNV / small indel", "gene": "TET2", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 5.36, "altered": 3, "tested": 56, "note": null}]}, {"label": "SRCAP", "kind": "SNV / small indel", "gene": "SRCAP", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 5.36, "altered": 3, "tested": 56, "note": null}]}, {"label": "PTPRS", "kind": "SNV / small indel", "gene": "PTPRS", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 5.36, "altered": 3, "tested": 56, "note": null}]}, {"label": "IGFN1", "kind": "SNV / small indel", "gene": "IGFN1", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 5.36, "altered": 3, "tested": 56, "note": null}]}, {"label": "FRY", "kind": "SNV / small indel", "gene": "FRY", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 5.36, "altered": 3, "tested": 56, "note": null}]}, {"label": "FAT2", "kind": "SNV / small indel", "gene": "FAT2", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 5.36, "altered": 3, "tested": 56, "note": null}]}, {"label": "BAP1", "kind": "SNV / small indel", "gene": "BAP1", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 5.36, "altered": 3, "tested": 56, "note": null}]}, {"label": "AQP7", "kind": "SNV / small indel", "gene": "AQP7", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 5.36, "altered": 3, "tested": 56, "note": null}]}, {"label": "ZNHIT2", "kind": "SNV / small indel", "gene": "ZNHIT2", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "ZFPM2", "kind": "SNV / small indel", "gene": "ZFPM2", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "WDFY3", "kind": "SNV / small indel", "gene": "WDFY3", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "USP43", "kind": "SNV / small indel", "gene": "USP43", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "USP34", "kind": "SNV / small indel", "gene": "USP34", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "USP29", "kind": "SNV / small indel", "gene": "USP29", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "UNC13A", "kind": "SNV / small indel", "gene": "UNC13A", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "TSHZ3", "kind": "SNV / small indel", "gene": "TSHZ3", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "TNXB", "kind": "SNV / small indel", "gene": "TNXB", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "TNKS", "kind": "SNV / small indel", "gene": "TNKS", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "TET1", "kind": "SNV / small indel", "gene": "TET1", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "SVIL", "kind": "SNV / small indel", "gene": "SVIL", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "STXBP6", "kind": "SNV / small indel", "gene": "STXBP6", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "STAB1", "kind": "SNV / small indel", "gene": "STAB1", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "SPTBN1", "kind": "SNV / small indel", "gene": "SPTBN1", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "SPG11", "kind": "SNV / small indel", "gene": "SPG11", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "SEMA6C", "kind": "SNV / small indel", "gene": "SEMA6C", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "SEMA6A", "kind": "SNV / small indel", "gene": "SEMA6A", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "SEC16A", "kind": "SNV / small indel", "gene": "SEC16A", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "SATB1", "kind": "SNV / small indel", "gene": "SATB1", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "RPTN", "kind": "SNV / small indel", "gene": "RPTN", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "PSIP1", "kind": "SNV / small indel", "gene": "PSIP1", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "PRUNE2", "kind": "SNV / small indel", "gene": "PRUNE2", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "PRSS3", "kind": "SNV / small indel", "gene": "PRSS3", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "PRG4", "kind": "SNV / small indel", "gene": "PRG4", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "PHIP", "kind": "SNV / small indel", "gene": "PHIP", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "PHF3", "kind": "SNV / small indel", "gene": "PHF3", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "PEG3", "kind": "SNV / small indel", "gene": "PEG3", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}, {"label": "PEAK1", "kind": "SNV / small indel", "gene": "PEAK1", "cells": [{"cohort": "npc_nusingapore", "status": "observed", "frequency": 3.57, "altered": 2, "tested": 56, "note": null}]}]}