{"disease": {"name": "Basal cell carcinoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "bcc"}, "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": "PTCH1", "alteration_types": ["SNV / small indel"], "altered": 184, "tested": 236, "frequency": 77.97, "cohort_count": 1, "frequency_range": {"min": 77.97, "max": 77.97}, "major_variants": ["Q576* (n=10)", "R770* (n=10)", "P689L (n=5)", "W1018* (n=5)", "W236* (n=4)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 184/236 patients (77.97%).", "Without the 48 hypermutated patients: 144/188 (76.6%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 184, "tested": 236, "frequency": 77.97, "frequency_excl_hypermutated": 76.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 184, "tested": 236, "frequency": 77.97, "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": "SMO", "alteration_types": ["SNV / small indel"], "altered": 64, "tested": 236, "frequency": 27.12, "cohort_count": 1, "frequency_range": {"min": 27.12, "max": 27.12}, "major_variants": ["W535L (n=17)", "L412F (n=9)", "A459V (n=6)", "S278I (n=4)", "S358F (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 64/236 patients (27.12%).", "Without the 48 hypermutated patients: 52/188 (27.66%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 64, "tested": 236, "frequency": 27.12, "frequency_excl_hypermutated": 27.66, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 90.4, "width": 1.0, "reference": 90.4, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 64, "tested": 236, "frequency": 27.12, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SUFU", "alteration_types": ["SNV / small indel"], "altered": 22, "tested": 236, "frequency": 9.32, "cohort_count": 1, "frequency_range": {"min": 9.32, "max": 9.32}, "major_variants": ["R123C (n=5)", "L98F (n=1)", "P297S (n=1)", "G112R (n=1)", "P281F (n=1)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 22/236 patients (9.32%).", "Without the 48 hypermutated patients: 16/188 (8.51%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 22, "tested": 236, "frequency": 9.32, "frequency_excl_hypermutated": 8.51, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.07, "width": 1.0, "reference": 31.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 22, "tested": 236, "frequency": 9.32, "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": "GLI1", "alteration_types": ["SNV / small indel"], "altered": 12, "tested": 107, "frequency": 11.21, "cohort_count": 1, "frequency_range": {"min": 11.21, "max": 11.21}, "major_variants": ["L495F (n=1)", "R100C (n=1)", "S125F (n=1)", "Q935* (n=1)", "S148F (n=1)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 12/107 patients (11.21%).", "Without the 48 hypermutated patients: 1/59 (1.69%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 12, "tested": 107, "frequency": 11.21, "frequency_excl_hypermutated": 1.69, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 37.37, "width": 1.0, "reference": 37.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 107, "frequency": 11.21, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "GLI2", "alteration_types": ["SNV / small indel"], "altered": 21, "tested": 107, "frequency": 19.63, "cohort_count": 1, "frequency_range": {"min": 19.63, "max": 19.63}, "major_variants": ["S1120F (n=2)", "S859F (n=2)", "P904S (n=1)", "P712L (n=1)", "T1499I (n=1)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 21/107 patients (19.63%).", "Without the 48 hypermutated patients: 9/59 (15.25%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 21, "tested": 107, "frequency": 19.63, "frequency_excl_hypermutated": 15.25, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 65.43, "width": 1.0, "reference": 65.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 107, "frequency": 19.63, "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": 153, "tested": 236, "frequency": 64.83, "cohort_count": 1, "frequency_range": {"min": 64.83, "max": 64.83}, "major_variants": ["R213* (n=14)", "R196* (n=12)", "Q317* (n=9)", "R342* (n=9)", "P177L (n=8)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 153/236 patients (64.83%).", "Without the 48 hypermutated patients: 111/188 (59.04%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 153, "tested": 236, "frequency": 64.83, "frequency_excl_hypermutated": 59.04, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 153, "tested": 236, "frequency": 64.83, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PTCH2", "alteration_types": ["SNV / small indel"], "altered": 15, "tested": 107, "frequency": 14.02, "cohort_count": 1, "frequency_range": {"min": 14.02, "max": 14.02}, "major_variants": ["P1166S (n=1)", "E174* (n=1)", "Y785H (n=1)", "P1176S (n=1)", "F953L (n=1)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 15/107 patients (14.02%).", "Without the 48 hypermutated patients: 2/59 (3.39%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 15, "tested": 107, "frequency": 14.02, "frequency_excl_hypermutated": 3.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 46.73, "width": 1.0, "reference": 46.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 107, "frequency": 14.02, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CDKN2A", "alteration_types": ["SNV / small indel"], "altered": 13, "tested": 236, "frequency": 5.51, "cohort_count": 1, "frequency_range": {"min": 5.51, "max": 5.51}, "major_variants": ["G6E (n=2)", "P146S (n=1)", "G135E (n=1)", "D108Y (n=1)", "D74A (n=1)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 13/236 patients (5.51%).", "Without the 48 hypermutated patients: 8/188 (4.26%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 13, "tested": 236, "frequency": 5.51, "frequency_excl_hypermutated": 4.26, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 18.37, "width": 1.0, "reference": 18.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 236, "frequency": 5.51, "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": "PDCD1", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 107, "frequency": 3.74, "cohort_count": 1, "frequency_range": {"min": 3.74, "max": 3.74}, "major_variants": ["S109I (n=1)", "R96C (n=1)", "W32* (n=1)", "R112K (n=1)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 4/107 patients (3.74%).", "Without the 48 hypermutated patients: 0/59 (0.0%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 4, "tested": 107, "frequency": 3.74, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 12.47, "width": 1.0, "reference": 12.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 107, "frequency": 3.74, "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": "MYCN", "alteration_types": ["SNV / small indel"], "altered": 79, "tested": 236, "frequency": 33.47, "cohort_count": 1, "frequency_range": {"min": 33.47, "max": 33.47}, "major_variants": ["P44L (n=34)", "P59L (n=17)", "P44S (n=8)", "P60S (n=7)", "P60L (n=6)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 79/236 patients (33.47%).", "Without the 48 hypermutated patients: 60/188 (31.91%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 79, "tested": 236, "frequency": 33.47, "frequency_excl_hypermutated": 31.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 79, "tested": 236, "frequency": 33.47, "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": "PPP6C", "alteration_types": ["SNV / small indel"], "altered": 40, "tested": 236, "frequency": 16.95, "cohort_count": 1, "frequency_range": {"min": 16.95, "max": 16.95}, "major_variants": ["R264C (n=27)", "P259S (n=4)", "S270L (n=3)", "L305F (n=2)", "D198N (n=1)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 40/236 patients (16.95%).", "Without the 48 hypermutated patients: 30/188 (15.96%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 40, "tested": 236, "frequency": 16.95, "frequency_excl_hypermutated": 15.96, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 56.5, "width": 1.0, "reference": 56.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 40, "tested": 236, "frequency": 16.95, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "STK19", "alteration_types": [], "altered": 0, "tested": 107, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 0/107 patients (0.0%).", "Without the 48 hypermutated patients: 0/59 (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 0, "tested": 107, "frequency": 0.0, "frequency_excl_hypermutated": 0.0, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "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": 107, "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": "TAF1L", "alteration_types": ["SNV / small indel"], "altered": 139, "tested": 236, "frequency": 58.9, "cohort_count": 1, "frequency_range": {"min": 58.9, "max": 58.9}, "major_variants": ["R254* (n=11)", "R793W (n=6)", "R1205Q (n=5)", "S926F (n=5)", "R845Q (n=4)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 139/236 patients (58.9%).", "Without the 48 hypermutated patients: 102/188 (54.26%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 139, "tested": 236, "frequency": 58.9, "frequency_excl_hypermutated": 54.26, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 139, "tested": 236, "frequency": 58.9, "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": "ADGRB3", "alteration_types": ["SNV / small indel"], "altered": 127, "tested": 236, "frequency": 53.81, "cohort_count": 1, "frequency_range": {"min": 53.81, "max": 53.81}, "major_variants": ["G972E (n=15)", "E659K (n=8)", "R1418Q (n=6)", "M1361I (n=6)", "G494E (n=4)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 127/236 patients (53.81%).", "Without the 48 hypermutated patients: 86/188 (45.74%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 127, "tested": 236, "frequency": 53.81, "frequency_excl_hypermutated": 45.74, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 127, "tested": 236, "frequency": 53.81, "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": "SLIT2", "alteration_types": ["SNV / small indel"], "altered": 120, "tested": 236, "frequency": 50.85, "cohort_count": 1, "frequency_range": {"min": 50.85, "max": 50.85}, "major_variants": ["S373F (n=7)", "G715E (n=4)", "R828Q (n=3)", "R1216C (n=3)", "G1201S (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 120/236 patients (50.85%).", "Without the 48 hypermutated patients: 86/188 (45.74%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 120, "tested": 236, "frequency": 50.85, "frequency_excl_hypermutated": 45.74, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 120, "tested": 236, "frequency": 50.85, "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": "ROS1", "alteration_types": ["SNV / small indel"], "altered": 119, "tested": 236, "frequency": 50.42, "cohort_count": 1, "frequency_range": {"min": 50.42, "max": 50.42}, "major_variants": ["P1120L (n=3)", "G705E (n=3)", "R2126W (n=3)", "Q237* (n=3)", "P105L (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 119/236 patients (50.42%).", "Without the 48 hypermutated patients: 83/188 (44.15%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 119, "tested": 236, "frequency": 50.42, "frequency_excl_hypermutated": 44.15, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 119, "tested": 236, "frequency": 50.42, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "GRIN2A", "alteration_types": ["SNV / small indel"], "altered": 114, "tested": 236, "frequency": 48.31, "cohort_count": 1, "frequency_range": {"min": 48.31, "max": 48.31}, "major_variants": ["E962K (n=8)", "G1322E (n=5)", "M653I (n=4)", "E806K (n=4)", "S616F (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 114/236 patients (48.31%).", "Without the 48 hypermutated patients: 79/188 (42.02%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 114, "tested": 236, "frequency": 48.31, "frequency_excl_hypermutated": 42.02, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 114, "tested": 236, "frequency": 48.31, "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": 104, "tested": 236, "frequency": 44.07, "cohort_count": 1, "frequency_range": {"min": 44.07, "max": 44.07}, "major_variants": ["E747K (n=7)", "E1352K (n=5)", "S773L (n=4)", "E628K (n=4)", "R50W (n=4)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 104/236 patients (44.07%).", "Without the 48 hypermutated patients: 73/188 (38.83%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 104, "tested": 236, "frequency": 44.07, "frequency_excl_hypermutated": 38.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 104, "tested": 236, "frequency": 44.07, "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": "EPHA3", "alteration_types": ["SNV / small indel"], "altered": 97, "tested": 236, "frequency": 41.1, "cohort_count": 1, "frequency_range": {"min": 41.1, "max": 41.1}, "major_variants": ["R136* (n=8)", "E615K (n=7)", "E930K (n=4)", "G783R (n=4)", "R324Q (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 97/236 patients (41.1%).", "Without the 48 hypermutated patients: 66/188 (35.11%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 97, "tested": 236, "frequency": 41.1, "frequency_excl_hypermutated": 35.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 97, "tested": 236, "frequency": 41.1, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KDR", "alteration_types": ["SNV / small indel"], "altered": 95, "tested": 236, "frequency": 40.25, "cohort_count": 1, "frequency_range": {"min": 40.25, "max": 40.25}, "major_variants": ["R1032Q (n=6)", "S1100F (n=4)", "S178F (n=4)", "G509E (n=4)", "R944Q (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 95/236 patients (40.25%).", "Without the 48 hypermutated patients: 72/188 (38.3%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 95, "tested": 236, "frequency": 40.25, "frequency_excl_hypermutated": 38.3, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 95, "tested": 236, "frequency": 40.25, "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": "ERBB4", "alteration_types": ["SNV / small indel"], "altered": 93, "tested": 236, "frequency": 39.41, "cohort_count": 1, "frequency_range": {"min": 39.41, "max": 39.41}, "major_variants": ["R711C (n=9)", "R544W (n=6)", "R114Q (n=4)", "D843N (n=4)", "R992C (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 93/236 patients (39.41%).", "Without the 48 hypermutated patients: 61/188 (32.45%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 93, "tested": 236, "frequency": 39.41, "frequency_excl_hypermutated": 32.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 93, "tested": 236, "frequency": 39.41, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PREX2", "alteration_types": ["SNV / small indel"], "altered": 91, "tested": 236, "frequency": 38.56, "cohort_count": 1, "frequency_range": {"min": 38.56, "max": 38.56}, "major_variants": ["R297C (n=4)", "P776S (n=2)", "R117C (n=2)", "G1417E (n=2)", "P1058S (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 91/236 patients (38.56%).", "Without the 48 hypermutated patients: 68/188 (36.17%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 91, "tested": 236, "frequency": 38.56, "frequency_excl_hypermutated": 36.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 91, "tested": 236, "frequency": 38.56, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "GRM8", "alteration_types": ["SNV / small indel"], "altered": 89, "tested": 236, "frequency": 37.71, "cohort_count": 1, "frequency_range": {"min": 37.71, "max": 37.71}, "major_variants": ["G873E (n=12)", "W215* (n=5)", "G726E (n=3)", "G340E (n=3)", "G628E (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 89/236 patients (37.71%).", "Without the 48 hypermutated patients: 60/188 (31.91%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 89, "tested": 236, "frequency": 37.71, "frequency_excl_hypermutated": 31.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 89, "tested": 236, "frequency": 37.71, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EPHA5", "alteration_types": ["SNV / small indel"], "altered": 89, "tested": 236, "frequency": 37.71, "cohort_count": 1, "frequency_range": {"min": 37.71, "max": 37.71}, "major_variants": ["E149K (n=6)", "P841S (n=6)", "G287E (n=4)", "P141S (n=3)", "R553Q (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 89/236 patients (37.71%).", "Without the 48 hypermutated patients: 66/188 (35.11%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 89, "tested": 236, "frequency": 37.71, "frequency_excl_hypermutated": 35.11, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 89, "tested": 236, "frequency": 37.71, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ROBO2", "alteration_types": ["SNV / small indel"], "altered": 84, "tested": 236, "frequency": 35.59, "cohort_count": 1, "frequency_range": {"min": 35.59, "max": 35.59}, "major_variants": ["R261C (n=6)", "P46S (n=4)", "I614T (n=4)", "R335W (n=3)", "G202R (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 84/236 patients (35.59%).", "Without the 48 hypermutated patients: 61/188 (32.45%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 84, "tested": 236, "frequency": 35.59, "frequency_excl_hypermutated": 32.45, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 84, "tested": 236, "frequency": 35.59, "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": "EPHA6", "alteration_types": ["SNV / small indel"], "altered": 84, "tested": 236, "frequency": 35.59, "cohort_count": 1, "frequency_range": {"min": 35.59, "max": 35.59}, "major_variants": ["G453E (n=3)", "G231R (n=3)", "R268C (n=3)", "R182C (n=3)", "G629E (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 84/236 patients (35.59%).", "Without the 48 hypermutated patients: 62/188 (32.98%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 84, "tested": 236, "frequency": 35.59, "frequency_excl_hypermutated": 32.98, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 84, "tested": 236, "frequency": 35.59, "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": "DCC", "alteration_types": ["SNV / small indel"], "altered": 83, "tested": 236, "frequency": 35.17, "cohort_count": 1, "frequency_range": {"min": 35.17, "max": 35.17}, "major_variants": ["G407E (n=4)", "E403K (n=3)", "G84E (n=2)", "R1337* (n=2)", "G54E (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 83/236 patients (35.17%).", "Without the 48 hypermutated patients: 52/188 (27.66%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 83, "tested": 236, "frequency": 35.17, "frequency_excl_hypermutated": 27.66, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 83, "tested": 236, "frequency": 35.17, "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": "NOTCH1", "alteration_types": ["SNV / small indel"], "altered": 82, "tested": 236, "frequency": 34.75, "cohort_count": 1, "frequency_range": {"min": 34.75, "max": 34.75}, "major_variants": ["S137L (n=4)", "P1275S (n=4)", "P1770S (n=3)", "E455K (n=3)", "P460S (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 82/236 patients (34.75%).", "Without the 48 hypermutated patients: 59/188 (31.38%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 82, "tested": 236, "frequency": 34.75, "frequency_excl_hypermutated": 31.38, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 82, "tested": 236, "frequency": 34.75, "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": "EPHA7", "alteration_types": ["SNV / small indel"], "altered": 81, "tested": 236, "frequency": 34.32, "cohort_count": 1, "frequency_range": {"min": 34.32, "max": 34.32}, "major_variants": ["S49F (n=4)", "E715K (n=3)", "S225F (n=3)", "G565R (n=2)", "P443S (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 81/236 patients (34.32%).", "Without the 48 hypermutated patients: 58/188 (30.85%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 81, "tested": 236, "frequency": 34.32, "frequency_excl_hypermutated": 30.85, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 81, "tested": 236, "frequency": 34.32, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ARID1A", "alteration_types": ["SNV / small indel"], "altered": 79, "tested": 236, "frequency": 33.47, "cohort_count": 1, "frequency_range": {"min": 33.47, "max": 33.47}, "major_variants": ["S2113F (n=3)", "Q1458* (n=3)", "Q1473* (n=2)", "E2224* (n=2)", "Q546* (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 79/236 patients (33.47%).", "Without the 48 hypermutated patients: 55/188 (29.26%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 79, "tested": 236, "frequency": 33.47, "frequency_excl_hypermutated": 29.26, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 79, "tested": 236, "frequency": 33.47, "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": "LRFN5", "alteration_types": ["SNV / small indel"], "altered": 77, "tested": 236, "frequency": 32.63, "cohort_count": 1, "frequency_range": {"min": 32.63, "max": 32.63}, "major_variants": ["R99Q (n=11)", "S139F (n=5)", "S400F (n=3)", "R645K (n=3)", "E597K (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 77/236 patients (32.63%).", "Without the 48 hypermutated patients: 56/188 (29.79%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 77, "tested": 236, "frequency": 32.63, "frequency_excl_hypermutated": 29.79, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 77, "tested": 236, "frequency": 32.63, "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": "TRRAP", "alteration_types": ["SNV / small indel"], "altered": 72, "tested": 236, "frequency": 30.51, "cohort_count": 1, "frequency_range": {"min": 30.51, "max": 30.51}, "major_variants": ["S2051F (n=2)", "E1248K (n=2)", "R1447C (n=2)", "P498S (n=2)", "P2815S (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 72/236 patients (30.51%).", "Without the 48 hypermutated patients: 48/188 (25.53%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 72, "tested": 236, "frequency": 30.51, "frequency_excl_hypermutated": 25.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 72, "tested": 236, "frequency": 30.51, "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": "MYH9", "alteration_types": ["SNV / small indel"], "altered": 72, "tested": 236, "frequency": 30.51, "cohort_count": 1, "frequency_range": {"min": 30.51, "max": 30.51}, "major_variants": ["P591L (n=7)", "P392S (n=7)", "R263C (n=5)", "A416V (n=4)", "P535S (n=4)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 72/236 patients (30.51%).", "Without the 48 hypermutated patients: 51/188 (27.13%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 72, "tested": 236, "frequency": 30.51, "frequency_excl_hypermutated": 27.13, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 72, "tested": 236, "frequency": 30.51, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RNF213", "alteration_types": ["SNV / small indel"], "altered": 71, "tested": 236, "frequency": 30.08, "cohort_count": 1, "frequency_range": {"min": 30.08, "max": 30.08}, "major_variants": ["S739F (n=3)", "P111S (n=2)", "A1844T (n=2)", "P948L (n=2)", "A4530V (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 71/236 patients (30.08%).", "Without the 48 hypermutated patients: 50/188 (26.6%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 71, "tested": 236, "frequency": 30.08, "frequency_excl_hypermutated": 26.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 71, "tested": 236, "frequency": 30.08, "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": "NOTCH3", "alteration_types": ["SNV / small indel"], "altered": 71, "tested": 236, "frequency": 30.08, "cohort_count": 1, "frequency_range": {"min": 30.08, "max": 30.08}, "major_variants": ["P1424L (n=3)", "P1026S (n=2)", "P2261L (n=2)", "S2203F (n=2)", "A1852T (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 71/236 patients (30.08%).", "Without the 48 hypermutated patients: 52/188 (27.66%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 71, "tested": 236, "frequency": 30.08, "frequency_excl_hypermutated": 27.66, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 71, "tested": 236, "frequency": 30.08, "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": "HGF", "alteration_types": ["SNV / small indel"], "altered": 70, "tested": 236, "frequency": 29.66, "cohort_count": 1, "frequency_range": {"min": 29.66, "max": 29.66}, "major_variants": ["E174K (n=5)", "R393C (n=4)", "E183K (n=4)", "R178Q (n=3)", "S45L (n=3)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 70/236 patients (29.66%).", "Without the 48 hypermutated patients: 49/188 (26.06%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 70, "tested": 236, "frequency": 29.66, "frequency_excl_hypermutated": 26.06, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 98.87, "width": 1.0, "reference": 98.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 70, "tested": 236, "frequency": 29.66, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EP400", "alteration_types": ["SNV / small indel"], "altered": 70, "tested": 236, "frequency": 29.66, "cohort_count": 1, "frequency_range": {"min": 29.66, "max": 29.66}, "major_variants": ["R2408C (n=7)", "S2884F (n=3)", "P1455L (n=2)", "P602L (n=2)", "P126L (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 70/236 patients (29.66%).", "Without the 48 hypermutated patients: 48/188 (25.53%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 70, "tested": 236, "frequency": 29.66, "frequency_excl_hypermutated": 25.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 98.87, "width": 1.0, "reference": 98.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 70, "tested": 236, "frequency": 29.66, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NOTCH2", "alteration_types": ["SNV / small indel"], "altered": 69, "tested": 236, "frequency": 29.24, "cohort_count": 1, "frequency_range": {"min": 29.24, "max": 29.24}, "major_variants": ["P394L (n=3)", "R1838* (n=2)", "S204F (n=2)", "P2371S (n=2)", "R1786* (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 69/236 patients (29.24%).", "Without the 48 hypermutated patients: 43/188 (22.87%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 69, "tested": 236, "frequency": 29.24, "frequency_excl_hypermutated": 22.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 97.47, "width": 1.0, "reference": 97.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 69, "tested": 236, "frequency": 29.24, "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": 66, "tested": 236, "frequency": 27.97, "cohort_count": 1, "frequency_range": {"min": 27.97, "max": 27.97}, "major_variants": ["P1207S (n=4)", "P859S (n=3)", "P1008L (n=2)", "P253S (n=2)", "P749S (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 66/236 patients (27.97%).", "Without the 48 hypermutated patients: 43/188 (22.87%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 66, "tested": 236, "frequency": 27.97, "frequency_excl_hypermutated": 22.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 93.23, "width": 1.0, "reference": 93.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 66, "tested": 236, "frequency": 27.97, "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": "HECW1", "alteration_types": ["SNV / small indel"], "altered": 66, "tested": 236, "frequency": 27.97, "cohort_count": 1, "frequency_range": {"min": 27.97, "max": 27.97}, "major_variants": ["S721F (n=3)", "R40* (n=2)", "V305I (n=2)", "E586K (n=2)", "S66F (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 66/236 patients (27.97%).", "Without the 48 hypermutated patients: 45/188 (23.94%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 66, "tested": 236, "frequency": 27.97, "frequency_excl_hypermutated": 23.94, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 93.23, "width": 1.0, "reference": 93.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 66, "tested": 236, "frequency": 27.97, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SPEN", "alteration_types": ["SNV / small indel"], "altered": 65, "tested": 236, "frequency": 27.54, "cohort_count": 1, "frequency_range": {"min": 27.54, "max": 27.54}, "major_variants": ["P3249L (n=3)", "P1738S (n=2)", "P1858S (n=2)", "A2251T (n=2)", "E2012* (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 65/236 patients (27.54%).", "Without the 48 hypermutated patients: 43/188 (22.87%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 65, "tested": 236, "frequency": 27.54, "frequency_excl_hypermutated": 22.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 91.8, "width": 1.0, "reference": 91.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 65, "tested": 236, "frequency": 27.54, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EP300", "alteration_types": ["SNV / small indel"], "altered": 65, "tested": 236, "frequency": 27.54, "cohort_count": 1, "frequency_range": {"min": 27.54, "max": 27.54}, "major_variants": ["P846L (n=2)", "L242F (n=2)", "P500S (n=2)", "P593S (n=2)", "R1137Q (n=1)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 65/236 patients (27.54%).", "Without the 48 hypermutated patients: 49/188 (26.06%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 65, "tested": 236, "frequency": 27.54, "frequency_excl_hypermutated": 26.06, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 91.8, "width": 1.0, "reference": 91.8, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 65, "tested": 236, "frequency": 27.54, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PTPN14", "alteration_types": ["SNV / small indel"], "altered": 63, "tested": 236, "frequency": 26.69, "cohort_count": 1, "frequency_range": {"min": 26.69, "max": 26.69}, "major_variants": ["R1045* (n=6)", "Q610* (n=3)", "P745S (n=2)", "X330_splice (n=2)", "Q343* (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 63/236 patients (26.69%).", "Without the 48 hypermutated patients: 46/188 (24.47%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 63, "tested": 236, "frequency": 26.69, "frequency_excl_hypermutated": 24.47, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 88.97, "width": 1.0, "reference": 88.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 63, "tested": 236, "frequency": 26.69, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PCDH15", "alteration_types": ["SNV / small indel"], "altered": 63, "tested": 107, "frequency": 58.88, "cohort_count": 1, "frequency_range": {"min": 58.88, "max": 58.88}, "major_variants": ["E1570K (n=3)", "R764C (n=3)", "E1533K (n=3)", "E1467K (n=2)", "R336Q (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 63/107 patients (58.88%).", "Without the 48 hypermutated patients: 21/59 (35.59%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 63, "tested": 107, "frequency": 58.88, "frequency_excl_hypermutated": 35.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 63, "tested": 107, "frequency": 58.88, "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": "IGF2R", "alteration_types": ["SNV / small indel"], "altered": 63, "tested": 236, "frequency": 26.69, "cohort_count": 1, "frequency_range": {"min": 26.69, "max": 26.69}, "major_variants": ["P1716S (n=4)", "D441N (n=2)", "P298L (n=2)", "S553F (n=2)", "T1073I (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 63/236 patients (26.69%).", "Without the 48 hypermutated patients: 43/188 (22.87%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 63, "tested": 236, "frequency": 26.69, "frequency_excl_hypermutated": 22.87, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 88.97, "width": 1.0, "reference": 88.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 63, "tested": 236, "frequency": 26.69, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CREBBP", "alteration_types": ["SNV / small indel"], "altered": 63, "tested": 236, "frequency": 26.69, "cohort_count": 1, "frequency_range": {"min": 26.69, "max": 26.69}, "major_variants": ["P225R (n=3)", "R1392* (n=2)", "Q733* (n=2)", "S1680del (n=2)", "S2338F (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 63/236 patients (26.69%).", "Without the 48 hypermutated patients: 48/188 (25.53%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 63, "tested": 236, "frequency": 26.69, "frequency_excl_hypermutated": 25.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 88.97, "width": 1.0, "reference": 88.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 63, "tested": 236, "frequency": 26.69, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SI", "alteration_types": ["SNV / small indel"], "altered": 60, "tested": 107, "frequency": 56.07, "cohort_count": 1, "frequency_range": {"min": 56.07, "max": 56.07}, "major_variants": ["P579S (n=4)", "M1464I (n=3)", "M392I (n=2)", "G603R (n=2)", "D1380N (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 60/107 patients (56.07%).", "Without the 48 hypermutated patients: 24/59 (40.68%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 60, "tested": 107, "frequency": 56.07, "frequency_excl_hypermutated": 40.68, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 60, "tested": 107, "frequency": 56.07, "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": "GRIK2", "alteration_types": ["SNV / small indel"], "altered": 60, "tested": 236, "frequency": 25.42, "cohort_count": 1, "frequency_range": {"min": 25.42, "max": 25.42}, "major_variants": ["E479K (n=4)", "R458* (n=3)", "R431C (n=3)", "G382S (n=2)", "R468K (n=2)"], "evidence_confidence": "low", "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 · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Basal Cell Carcinoma (UNIGE, Nat Genet 2016), 60/236 patients (25.42%).", "Without the 48 hypermutated patients: 42/188 (22.34%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "bcc_unige_2016", "cohort_name": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "altered": 60, "tested": 236, "frequency": 25.42, "frequency_excl_hypermutated": 22.34, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "293/293", "coverage_note": null, "source_id": "bcc_unige_2016", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 84.73, "width": 1.0, "reference": 84.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 60, "tested": 236, "frequency": 25.42, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "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": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source": "cBioPortal", "accession": "bcc_unige_2016", "patients": {"value": 236, "status": "observed", "unit": "patients"}, "samples": {"value": 293, "status": "observed", "unit": "samples"}, "disease_subtype": "Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "assay_type": "mixed", "sequencing_method": "bcc_unige_2016_cancer_panel (167), WES (126)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "bcc_unige_2016", "is_demo": false, "assay_coverage": {"patients_with_calls": 236, "patients_in_roster": 236, "frequencies_computed": true, "samples_sequenced": 293, "samples_in_study": 293, "hypermutated_patients": 48, "median_mutations_per_sample": 92, "reason": null}}], "sources": [{"source_name": "cBioPortal · Basal Cell Carcinoma (UNIGE, Nat Genet 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=bcc_unige_2016", "source_record_id": "bcc_unige_2016", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-18; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In Basal Cell Carcinoma (UNIGE, Nat Genet 2016) (236 sequenced patients, mixed), the most frequently altered of the 48 genes shown are PTCH1 77.97%, TP53 64.83%, TAF1L 58.9%, PCDH15 58.88%, SI 56.07%. Each figure divides by the patients on whom that gene could be called.", "48 of 236 patients are hypermutated (more than 920 non-silent mutations, ten times the cohort median of 92); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 1 are altered in under 2% of this cohort (STK19): 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": "PTCH1 is mutated in 184 of 236 patients in Basal Cell Carcinoma (UNIGE, Nat Genet 2016).", "numerator": 184, "denominator": 236, "frequency": 77.97, "cohorts": 1, "evidence_confidence": "low", "source": "bcc_unige_2016", "retrieved_at": "2026-09-18"}, {"finding": "TP53 is mutated in 153 of 236 patients in Basal Cell Carcinoma (UNIGE, Nat Genet 2016).", "numerator": 153, "denominator": 236, "frequency": 64.83, "cohorts": 1, "evidence_confidence": "low", "source": "bcc_unige_2016", "retrieved_at": "2026-09-18"}, {"finding": "TAF1L is mutated in 139 of 236 patients in Basal Cell Carcinoma (UNIGE, Nat Genet 2016).", "numerator": 139, "denominator": 236, "frequency": 58.9, "cohorts": 1, "evidence_confidence": "low", "source": "bcc_unige_2016", "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": "bcc_unige_2016", "region_events": [], "matrix": [{"label": "PTCH1", "kind": "SNV / small indel", "gene": "PTCH1", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 77.97, "altered": 184, "tested": 236, "note": null}]}, {"label": "SMO", "kind": "SNV / small indel", "gene": "SMO", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 27.12, "altered": 64, "tested": 236, "note": null}]}, {"label": "SUFU", "kind": "SNV / small indel", "gene": "SUFU", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 9.32, "altered": 22, "tested": 236, "note": null}]}, {"label": "GLI1", "kind": "SNV / small indel", "gene": "GLI1", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 11.21, "altered": 12, "tested": 107, "note": null}]}, {"label": "GLI2", "kind": "SNV / small indel", "gene": "GLI2", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 19.63, "altered": 21, "tested": 107, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 64.83, "altered": 153, "tested": 236, "note": null}]}, {"label": "PTCH2", "kind": "SNV / small indel", "gene": "PTCH2", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 14.02, "altered": 15, "tested": 107, "note": null}]}, {"label": "CDKN2A", "kind": "SNV / small indel", "gene": "CDKN2A", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 5.51, "altered": 13, "tested": 236, "note": null}]}, {"label": "PDCD1", "kind": "SNV / small indel", "gene": "PDCD1", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 3.74, "altered": 4, "tested": 107, "note": null}]}, {"label": "MYCN", "kind": "SNV / small indel", "gene": "MYCN", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 33.47, "altered": 79, "tested": 236, "note": null}]}, {"label": "PPP6C", "kind": "SNV / small indel", "gene": "PPP6C", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 16.95, "altered": 40, "tested": 236, "note": null}]}, {"label": "STK19", "kind": "SNV / small indel", "gene": "STK19", "cells": [{"cohort": "bcc_unige_2016", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 107, "note": null}]}, {"label": "TAF1L", "kind": "SNV / small indel", "gene": "TAF1L", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 58.9, "altered": 139, "tested": 236, "note": null}]}, {"label": "ADGRB3", "kind": "SNV / small indel", "gene": "ADGRB3", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 53.81, "altered": 127, "tested": 236, "note": null}]}, {"label": "SLIT2", "kind": "SNV / small indel", "gene": "SLIT2", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 50.85, "altered": 120, "tested": 236, "note": null}]}, {"label": "ROS1", "kind": "SNV / small indel", "gene": "ROS1", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 50.42, "altered": 119, "tested": 236, "note": null}]}, {"label": "GRIN2A", "kind": "SNV / small indel", "gene": "GRIN2A", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 48.31, "altered": 114, "tested": 236, "note": null}]}, {"label": "PEG3", "kind": "SNV / small indel", "gene": "PEG3", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 44.07, "altered": 104, "tested": 236, "note": null}]}, {"label": "EPHA3", "kind": "SNV / small indel", "gene": "EPHA3", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 41.1, "altered": 97, "tested": 236, "note": null}]}, {"label": "KDR", "kind": "SNV / small indel", "gene": "KDR", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 40.25, "altered": 95, "tested": 236, "note": null}]}, {"label": "ERBB4", "kind": "SNV / small indel", "gene": "ERBB4", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 39.41, "altered": 93, "tested": 236, "note": null}]}, {"label": "PREX2", "kind": "SNV / small indel", "gene": "PREX2", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 38.56, "altered": 91, "tested": 236, "note": null}]}, {"label": "GRM8", "kind": "SNV / small indel", "gene": "GRM8", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 37.71, "altered": 89, "tested": 236, "note": null}]}, {"label": "EPHA5", "kind": "SNV / small indel", "gene": "EPHA5", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 37.71, "altered": 89, "tested": 236, "note": null}]}, {"label": "ROBO2", "kind": "SNV / small indel", "gene": "ROBO2", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 35.59, "altered": 84, "tested": 236, "note": null}]}, {"label": "EPHA6", "kind": "SNV / small indel", "gene": "EPHA6", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 35.59, "altered": 84, "tested": 236, "note": null}]}, {"label": "DCC", "kind": "SNV / small indel", "gene": "DCC", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 35.17, "altered": 83, "tested": 236, "note": null}]}, {"label": "NOTCH1", "kind": "SNV / small indel", "gene": "NOTCH1", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 34.75, "altered": 82, "tested": 236, "note": null}]}, {"label": "EPHA7", "kind": "SNV / small indel", "gene": "EPHA7", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 34.32, "altered": 81, "tested": 236, "note": null}]}, {"label": "ARID1A", "kind": "SNV / small indel", "gene": "ARID1A", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 33.47, "altered": 79, "tested": 236, "note": null}]}, {"label": "LRFN5", "kind": "SNV / small indel", "gene": "LRFN5", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 32.63, "altered": 77, "tested": 236, "note": null}]}, {"label": "TRRAP", "kind": "SNV / small indel", "gene": "TRRAP", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 30.51, "altered": 72, "tested": 236, "note": null}]}, {"label": "MYH9", "kind": "SNV / small indel", "gene": "MYH9", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 30.51, "altered": 72, "tested": 236, "note": null}]}, {"label": "RNF213", "kind": "SNV / small indel", "gene": "RNF213", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 30.08, "altered": 71, "tested": 236, "note": null}]}, {"label": "NOTCH3", "kind": "SNV / small indel", "gene": "NOTCH3", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 30.08, "altered": 71, "tested": 236, "note": null}]}, {"label": "HGF", "kind": "SNV / small indel", "gene": "HGF", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 29.66, "altered": 70, "tested": 236, "note": null}]}, {"label": "EP400", "kind": "SNV / small indel", "gene": "EP400", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 29.66, "altered": 70, "tested": 236, "note": null}]}, {"label": "NOTCH2", "kind": "SNV / small indel", "gene": "NOTCH2", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 29.24, "altered": 69, "tested": 236, "note": null}]}, {"label": "TET1", "kind": "SNV / small indel", "gene": "TET1", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 27.97, "altered": 66, "tested": 236, "note": null}]}, {"label": "HECW1", "kind": "SNV / small indel", "gene": "HECW1", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 27.97, "altered": 66, "tested": 236, "note": null}]}, {"label": "SPEN", "kind": "SNV / small indel", "gene": "SPEN", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 27.54, "altered": 65, "tested": 236, "note": null}]}, {"label": "EP300", "kind": "SNV / small indel", "gene": "EP300", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 27.54, "altered": 65, "tested": 236, "note": null}]}, {"label": "PTPN14", "kind": "SNV / small indel", "gene": "PTPN14", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 26.69, "altered": 63, "tested": 236, "note": null}]}, {"label": "PCDH15", "kind": "SNV / small indel", "gene": "PCDH15", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 58.88, "altered": 63, "tested": 107, "note": null}]}, {"label": "IGF2R", "kind": "SNV / small indel", "gene": "IGF2R", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 26.69, "altered": 63, "tested": 236, "note": null}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 26.69, "altered": 63, "tested": 236, "note": null}]}, {"label": "SI", "kind": "SNV / small indel", "gene": "SI", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 56.07, "altered": 60, "tested": 107, "note": null}]}, {"label": "GRIK2", "kind": "SNV / small indel", "gene": "GRIK2", "cells": [{"cohort": "bcc_unige_2016", "status": "observed", "frequency": 25.42, "altered": 60, "tested": 236, "note": null}]}]}