{"disease": {"name": "Testicular cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "testis"}, "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": "KIT", "alteration_types": ["SNV / small indel", "amplification"], "altered": 20, "tested": 149, "frequency": 13.42, "cohort_count": 1, "frequency_range": {"min": 13.42, "max": 13.42}, "major_variants": ["D816H (n=4)", "D816Y (n=3)", "D816V (n=3)", "N822K (n=3)", "A829P (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 20/149 patients (13.42%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 20, "tested": 149, "frequency": 13.42, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 44.73, "width": 1.0, "reference": 44.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 20, "tested": 149, "frequency": 13.42, "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": "KRAS", "alteration_types": ["SNV / small indel", "amplification"], "altered": 12, "tested": 149, "frequency": 8.05, "cohort_count": 1, "frequency_range": {"min": 8.05, "max": 8.05}, "major_variants": ["G12V (n=3)", "Q61L (n=2)", "G12R (n=2)", "E63K (n=1)", "G12A (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 12/149 patients (8.05%).", "Largest alteration is amplification: 13/149 (8.72%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 12, "tested": 149, "frequency": 8.05, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 29.07, "width": 1.0, "reference": 29.07, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 13, "tested": 149, "frequency": 8.72, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TP53", "alteration_types": ["SNV / small indel"], "altered": 1, "tested": 149, "frequency": 0.67, "cohort_count": 1, "frequency_range": {"min": 0.67, "max": 0.67}, "major_variants": ["G334W (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 1/149 patients (0.67%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 1, "tested": 149, "frequency": 0.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.23, "width": 1.0, "reference": 2.23, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 1, "tested": 149, "frequency": 0.67, "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": "MDM2", "alteration_types": ["amplification"], "altered": 0, "tested": 149, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 0/149 patients (0.0%).", "Largest alteration is amplification: 4/149 (2.68%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 0, "tested": 149, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.93, "width": 1.0, "reference": 8.93, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 4, "tested": 149, "frequency": 2.68, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "NANOG", "alteration_types": ["SNV / small indel", "amplification"], "altered": 1, "tested": 149, "frequency": 0.67, "cohort_count": 1, "frequency_range": {"min": 0.67, "max": 0.67}, "major_variants": ["N208K (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 1/149 patients (0.67%).", "Largest alteration is amplification: 9/149 (6.04%) in the reference cohort's copy-number profile.", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 1, "tested": 149, "frequency": 0.67, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.13, "width": 1.0, "reference": 20.13, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 9, "tested": 149, "frequency": 6.04, "is_mutation": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "POU5F1", "alteration_types": [], "altered": 0, "tested": 149, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 0/149 patients (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 0, "tested": 149, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "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": 149, "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": "SOX17", "alteration_types": ["amplification", "deep deletion"], "altered": 0, "tested": 149, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 0/149 patients (0.0%).", "Largest alteration is amplification: 5/149 (3.36%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 0, "tested": 149, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.2, "width": 1.0, "reference": 11.2, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 5, "tested": 149, "frequency": 3.36, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "SOX2", "alteration_types": ["amplification"], "altered": 0, "tested": 149, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 0/149 patients (0.0%).", "Largest alteration is amplification: 2/149 (1.34%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 0, "tested": 149, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.47, "width": 1.0, "reference": 4.47, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 2, "tested": 149, "frequency": 1.34, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "CCND2", "alteration_types": ["amplification"], "altered": 0, "tested": 149, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 0/149 patients (0.0%).", "Largest alteration is amplification: 8/149 (5.37%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], 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["deep deletion"], "altered": 0, "tested": 149, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 0/149 patients (0.0%).", "Largest alteration is deep deletion: 2/149 (1.34%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 0, "tested": 149, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.47, "width": 1.0, "reference": 4.47, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 2, "tested": 149, "frequency": 1.34, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "CDKN2A", "alteration_types": ["amplification"], "altered": 0, "tested": 149, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 0/149 patients (0.0%).", "Largest alteration is amplification: 1/149 (0.67%) in the reference cohort's copy-number profile.", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 0, "tested": 149, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 2.23, "width": 1.0, "reference": 2.23, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 1, "tested": 149, "frequency": 0.67, "is_mutation": false}, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "XIST", "alteration_types": [], "altered": 0, "tested": 149, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "moderate", "disease_relevance": "Curated target in the disease briefing.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 0/149 patients (0.0%).", "Observed in 0 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 0, "tested": 149, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "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": 149, "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": "PTMA", "alteration_types": ["SNV / small indel"], "altered": 8, "tested": 149, "frequency": 5.37, "cohort_count": 1, "frequency_range": {"min": 5.37, "max": 5.37}, "major_variants": ["*112Qext*9 (n=7)", "E62G (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 8/149 patients (5.37%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 8, "tested": 149, "frequency": 5.37, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 17.9, "width": 1.0, "reference": 17.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 149, "frequency": 5.37, "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": "LZTR1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 6, "tested": 149, "frequency": 4.03, "cohort_count": 1, "frequency_range": {"min": 4.03, "max": 4.03}, "major_variants": ["X217_splice (n=6)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 6/149 patients (4.03%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 6, "tested": 149, "frequency": 4.03, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 13.43, "width": 1.0, "reference": 13.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 6, "tested": 149, "frequency": 4.03, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SRCAP", "alteration_types": ["SNV / small indel"], "altered": 5, "tested": 149, "frequency": 3.36, "cohort_count": 1, "frequency_range": {"min": 3.36, "max": 3.36}, "major_variants": ["P2791T (n=1)", "K2383* (n=1)", "A1542Gfs*306 (n=1)", "P1356A (n=1)", "P2544S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 5/149 patients (3.36%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 5, "tested": 149, "frequency": 3.36, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.2, "width": 1.0, "reference": 11.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 149, "frequency": 3.36, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NRAS", "alteration_types": ["SNV / small indel"], "altered": 5, "tested": 149, "frequency": 3.36, "cohort_count": 1, "frequency_range": {"min": 3.36, "max": 3.36}, "major_variants": ["Q61R (n=2)", "G12D (n=1)", "Q61K (n=1)", "G12S (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 5/149 patients (3.36%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 5, "tested": 149, "frequency": 3.36, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.2, "width": 1.0, "reference": 11.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 5, "tested": 149, "frequency": 3.36, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "BIRC6", "alteration_types": ["SNV / small indel"], "altered": 4, "tested": 149, "frequency": 2.68, "cohort_count": 1, "frequency_range": {"min": 2.68, "max": 2.68}, "major_variants": ["S2820* (n=1)", "A1762V (n=1)", "S1757C (n=1)", "S1399I (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 4/149 patients (2.68%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 4, "tested": 149, "frequency": 2.68, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.93, "width": 1.0, "reference": 8.93, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 4, "tested": 149, "frequency": 2.68, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ZZEF1", "alteration_types": ["SNV / small indel"], "altered": 3, "tested": 149, "frequency": 2.01, "cohort_count": 1, "frequency_range": {"min": 2.01, "max": 2.01}, "major_variants": ["A320V (n=1)", "L2166M (n=1)", "A613V (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 3/149 patients (2.01%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 3, "tested": 149, "frequency": 2.01, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.7, "width": 1.0, "reference": 6.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 149, "frequency": 2.01, "is_mutation": true}, "altered_status": "observed", "altered_unit": 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"cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 3/149 patients (2.01%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 3, "tested": 149, "frequency": 2.01, "frequency_excl_hypermutated": null, "counting_unit": "patients", 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"cohorts"}, {"gene": "TCOF1", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 149, "frequency": 1.34, "cohort_count": 1, "frequency_range": {"min": 1.34, "max": 1.34}, "major_variants": ["A490V (n=1)", "G1407W (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 2/149 patients (1.34%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 2, "tested": 149, "frequency": 1.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.47, "width": 1.0, "reference": 4.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 149, "frequency": 1.34, "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": "TACC2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 2, "tested": 149, "frequency": 1.34, "cohort_count": 1, "frequency_range": {"min": 1.34, "max": 1.34}, "major_variants": ["T1955N (n=1)", "E929V (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 2/149 patients (1.34%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 2, "tested": 149, "frequency": 1.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.47, "width": 1.0, "reference": 4.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 149, "frequency": 1.34, "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": "TAAR2", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 149, "frequency": 1.34, "cohort_count": 1, "frequency_range": {"min": 1.34, "max": 1.34}, "major_variants": ["K20Rfs*45 (n=1)", "L124M (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 2/149 patients (1.34%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 2, "tested": 149, "frequency": 1.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.47, "width": 1.0, "reference": 4.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 149, "frequency": 1.34, "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": "SYNJ2", "alteration_types": ["SNV / small indel"], "altered": 2, "tested": 149, "frequency": 1.34, "cohort_count": 1, "frequency_range": {"min": 1.34, "max": 1.34}, "major_variants": ["T86I (n=1)", "D1435N (n=1)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: Testicular Germ Cell Tumors (TCGA, PanCancer Atlas), 2/149 patients (1.34%).", "Observed in 1 of 1 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "cohort_name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "altered": 2, "tested": 149, "frequency": 1.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "149/149", "coverage_note": null, "source_id": "tgct_tcga_pan_can_atlas_2018", "is_reference": true}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.47, "width": 1.0, "reference": 4.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 2, "tested": 149, "frequency": 1.34, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "KRAS", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KRAS amplification", "genomic_coordinate": null, "observed": 13, "observed_status": "observed", "observed_unit": "patients", "tested": 149, "tested_status": "observed", "tested_unit": "patients", "frequency": 8.72, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["tgct_tcga_pan_can_atlas_2018"], "source_ids": ["tgct_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NANOG", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "NANOG amplification", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 149, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.04, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["tgct_tcga_pan_can_atlas_2018"], "source_ids": ["tgct_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "JARID2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "JARID2 deep deletion", "genomic_coordinate": null, "observed": 9, "observed_status": "observed", "observed_unit": "patients", "tested": 149, "tested_status": "observed", "tested_unit": "patients", "frequency": 6.04, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["tgct_tcga_pan_can_atlas_2018"], "source_ids": ["tgct_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "CCND2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "CCND2 amplification", "genomic_coordinate": null, "observed": 8, "observed_status": "observed", "observed_unit": "patients", "tested": 149, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.37, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["tgct_tcga_pan_can_atlas_2018"], "source_ids": ["tgct_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SOX17", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "SOX17 amplification", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 149, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.36, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["tgct_tcga_pan_can_atlas_2018"], "source_ids": ["tgct_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MDM2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MDM2 amplification", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 149, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.68, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["tgct_tcga_pan_can_atlas_2018"], "source_ids": ["tgct_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "KIT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "KIT amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 149, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.01, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["tgct_tcga_pan_can_atlas_2018"], "source_ids": ["tgct_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ZFC3H1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ZFC3H1 amplification", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 149, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.01, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["tgct_tcga_pan_can_atlas_2018"], "source_ids": ["tgct_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 1, "total_cohorts": 1}, {"modality": "Copy number (discrete)", "available_cohorts": 1, "total_cohorts": 1}, {"modality": "Structural variant (present, not read)", "available_cohorts": 1, "total_cohorts": 1}], "chromosome_summary": [], "cohorts": [{"name": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source": "cBioPortal", "accession": "tgct_tcga_pan_can_atlas_2018", "patients": {"value": 149, "status": "observed", "unit": "patients"}, "samples": {"value": 149, "status": "observed", "unit": "samples"}, "disease_subtype": "Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (149)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-18", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 149, "patients_in_roster": 149, "frequencies_computed": true, "samples_sequenced": 149, "samples_in_study": 149, "hypermutated_patients": 0, "median_mutations_per_sample": 12, "reason": null}}], "sources": [{"source_name": "cBioPortal · Testicular Germ Cell Tumors (TCGA, PanCancer Atlas)", "source_url": "https://www.cbioportal.org/study/summary?id=tgct_tcga_pan_can_atlas_2018", "source_record_id": "tgct_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-18", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "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 Testicular Germ Cell Tumors (TCGA, PanCancer Atlas) (149 sequenced patients, exome or genome), the most frequently altered of the 50 genes shown are KIT 13.42%, KRAS 8.72% (amplification), NANOG 6.04% (amplification), JARID2 6.04% (deep deletion), CCND2 5.37% (amplification). Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 6 are altered in under 2% of this cohort (TP53, POU5F1, SOX2, TERT, CDKN2A, XIST): 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": "KIT is mutated in 20 of 149 patients in Testicular Germ Cell Tumors (TCGA, PanCancer Atlas).", "numerator": 20, "denominator": 149, "frequency": 13.42, "cohorts": 1, "evidence_confidence": "moderate", "source": "tgct_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "KRAS is amplified in 13 of 149 patients in Testicular Germ Cell Tumors (TCGA, PanCancer Atlas).", "numerator": 13, "denominator": 149, "frequency": 8.72, "cohorts": 1, "evidence_confidence": "moderate", "source": "tgct_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}, {"finding": "NANOG is amplified in 9 of 149 patients in Testicular Germ Cell Tumors (TCGA, PanCancer Atlas).", "numerator": 9, "denominator": 149, "frequency": 6.04, "cohorts": 1, "evidence_confidence": "moderate", "source": "tgct_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-18"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "tgct_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "KIT", "kind": "SNV / small indel", "gene": "KIT", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 13.42, "altered": 20, "tested": 149, "note": null}]}, {"label": "KIT", "kind": "amplification", "gene": "KIT", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.01, "altered": 3, "tested": 149, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.05, "altered": 12, "tested": 149, "note": null}]}, {"label": "KRAS", "kind": "amplification", "gene": "KRAS", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 8.72, "altered": 13, "tested": 149, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.67, "altered": 1, "tested": 149, "note": null}]}, {"label": "MDM2", "kind": "SNV / small indel", "gene": "MDM2", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 149, "note": null}]}, {"label": "MDM2", "kind": "amplification", "gene": "MDM2", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.68, "altered": 4, "tested": 149, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "NANOG", "kind": "SNV / small indel", "gene": "NANOG", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 0.67, "altered": 1, "tested": 149, "note": null}]}, {"label": "NANOG", "kind": "amplification", "gene": "NANOG", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 6.04, "altered": 9, "tested": 149, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "POU5F1", "kind": "SNV / small indel", "gene": "POU5F1", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 149, "note": null}]}, {"label": "SOX17", "kind": "SNV / small indel", "gene": "SOX17", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 149, "note": null}]}, {"label": "SOX17", "kind": "amplification", "gene": "SOX17", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.36, "altered": 5, "tested": 149, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "SOX2", "kind": "SNV / small indel", "gene": "SOX2", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 149, "note": null}]}, {"label": "CCND2", "kind": "SNV / small indel", "gene": "CCND2", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 149, "note": null}]}, {"label": "CCND2", "kind": "amplification", "gene": "CCND2", "cells": [{"cohort": "tgct_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 5.37, "altered": 8, "tested": 149, "note": "Discrete copy-number call; 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