{"disease": {"name": "Colorectal cancer", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "coadread"}, "updated_at": "2026-09-17", "genome_builds": ["hg19"], "cohort_count": 3, "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": "APC", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 387, "tested": 534, "frequency": 72.47, "cohort_count": 3, "frequency_range": {"min": 58.32, "max": 76.98}, "major_variants": ["R1450* (n=34)", "R876* (n=23)", "R1114* (n=19)", "R213* (n=18)", "R216* (n=14)"], "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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 387/534 patients (72.47%).", "Without the 60 hypermutated patients: 355/474 (74.89%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 387, "tested": 534, "frequency": 72.47, "frequency_excl_hypermutated": 74.89, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 361, "tested": 619, "frequency": 58.32, "frequency_excl_hypermutated": 58.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 846, "tested": 1099, "frequency": 76.98, "frequency_excl_hypermutated": 76.75, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 387, "tested": 534, "frequency": 72.47, "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": "KRAS", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 218, "tested": 534, "frequency": 40.82, "cohort_count": 3, "frequency_range": {"min": 27.95, "max": 44.22}, "major_variants": ["G12D (n=58)", "G12V (n=49)", "G13D (n=37)", "A146T (n=16)", "G12C (n=15)"], "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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 218/534 patients (40.82%).", "Without the 60 hypermutated patients: 202/474 (42.62%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 218, "tested": 534, "frequency": 40.82, "frequency_excl_hypermutated": 42.62, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 173, "tested": 619, "frequency": 27.95, "frequency_excl_hypermutated": 28.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 486, "tested": 1099, "frequency": 44.22, "frequency_excl_hypermutated": 43.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 93.17, "width": 6.83, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 218, "tested": 534, "frequency": 40.82, "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", "deep deletion"], "altered": 312, "tested": 534, "frequency": 58.43, "cohort_count": 3, "frequency_range": {"min": 51.05, "max": 72.7}, "major_variants": ["R175H (n=32)", "R282W (n=20)", "R248Q (n=18)", "R273H (n=17)", "R248W (n=15)"], "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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 312/534 patients (58.43%).", "Without the 60 hypermutated patients: 292/474 (61.6%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 312, "tested": 534, "frequency": 58.43, "frequency_excl_hypermutated": 61.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 316, "tested": 619, "frequency": 51.05, "frequency_excl_hypermutated": 51.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 799, "tested": 1099, "frequency": 72.7, "frequency_excl_hypermutated": 72.61, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 100.0, "width": 1.0, "reference": 100.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 312, "tested": 534, "frequency": 58.43, "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": "SMAD4", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 67, "tested": 534, "frequency": 12.55, "cohort_count": 3, "frequency_range": {"min": 11.63, "max": 15.2}, "major_variants": ["R361H (n=11)", "R361C (n=4)", "S32* (n=3)", "D537H (n=3)", "S232Qfs*3 (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 67/534 patients (12.55%).", "Without the 60 hypermutated patients: 55/474 (11.6%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 67, "tested": 534, "frequency": 12.55, "frequency_excl_hypermutated": 11.6, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 72, "tested": 619, "frequency": 11.63, "frequency_excl_hypermutated": 11.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 167, "tested": 1099, "frequency": 15.2, "frequency_excl_hypermutated": 14.98, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 38.77, "width": 11.9, "reference": 41.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 67, "tested": 534, "frequency": 12.55, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "BRAF", "alteration_types": ["SNV / small indel", "amplification"], "altered": 62, "tested": 534, "frequency": 11.61, "cohort_count": 3, "frequency_range": {"min": 10.83, "max": 20.52}, "major_variants": ["V600E (n=48)", "D594N (n=2)", "L597V (n=1)", "P403Lfs*8 (n=1)", "K205Q (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 62/534 patients (11.61%).", "Without the 60 hypermutated patients: 24/474 (5.06%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 62, "tested": 534, "frequency": 11.61, "frequency_excl_hypermutated": 5.06, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 127, "tested": 619, "frequency": 20.52, "frequency_excl_hypermutated": 19.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 119, "tested": 1099, "frequency": 10.83, "frequency_excl_hypermutated": 10.48, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 36.1, "width": 32.3, "reference": 38.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 62, "tested": 534, "frequency": 11.61, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EGFR", "alteration_types": ["SNV / small indel", "amplification"], "altered": 14, "tested": 534, "frequency": 2.62, "cohort_count": 3, "frequency_range": {"min": 2.62, "max": 4.52}, "major_variants": ["A1000V (n=1)", "D1152N (n=1)", "P596L (n=1)", "R222C (n=1)", "R831H (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 14/534 patients (2.62%).", "Without the 60 hypermutated patients: 5/474 (1.05%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 14, "tested": 534, "frequency": 2.62, "frequency_excl_hypermutated": 1.05, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 28, "tested": 619, "frequency": 4.52, "frequency_excl_hypermutated": 3.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 30, "tested": 1099, "frequency": 2.73, "frequency_excl_hypermutated": 2.3, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 8.73, "width": 6.34, "reference": 8.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 534, "frequency": 2.62, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ERBB2", "alteration_types": ["SNV / small indel", "amplification"], "altered": 19, "tested": 534, "frequency": 3.56, "cohort_count": 3, "frequency_range": {"min": 3.56, "max": 5.82}, "major_variants": ["V842I (n=3)", "V777L (n=2)", "R678Q (n=1)", "K1177E (n=1)", "G439D (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 19/534 patients (3.56%).", "Without the 60 hypermutated patients: 12/474 (2.53%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 19, "tested": 534, "frequency": 3.56, "frequency_excl_hypermutated": 2.53, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 36, "tested": 619, "frequency": 5.82, "frequency_excl_hypermutated": 5.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 52, "tested": 1099, "frequency": 4.73, "frequency_excl_hypermutated": 4.32, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 11.87, "width": 7.53, "reference": 11.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 534, "frequency": 3.56, "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": "PIK3CA", "alteration_types": ["SNV / small indel", "amplification"], "altered": 147, "tested": 534, "frequency": 27.53, "cohort_count": 3, "frequency_range": {"min": 20.38, "max": 27.53}, "major_variants": ["E545K (n=35)", "H1047R (n=18)", "R88Q (n=15)", "E542K (n=13)", "C420R (n=4)"], "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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 147/534 patients (27.53%).", "Without the 60 hypermutated patients: 118/474 (24.89%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 147, "tested": 534, "frequency": 27.53, "frequency_excl_hypermutated": 24.89, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 132, "tested": 619, "frequency": 21.32, "frequency_excl_hypermutated": 21.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 224, "tested": 1099, "frequency": 20.38, "frequency_excl_hypermutated": 19.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 67.93, "width": 23.84, "reference": 91.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 147, "tested": 534, "frequency": 27.53, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MLH1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 22, "tested": 534, "frequency": 4.12, "cohort_count": 3, "frequency_range": {"min": 1.82, "max": 4.12}, "major_variants": ["K618del (n=2)", "G67R (n=2)", "V16M (n=1)", "L697I (n=1)", "R9Q (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 22/534 patients (4.12%).", "Without the 60 hypermutated patients: 11/474 (2.32%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 22, "tested": 534, "frequency": 4.12, "frequency_excl_hypermutated": 2.32, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 24, "tested": 619, "frequency": 3.88, "frequency_excl_hypermutated": 2.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 20, "tested": 1099, "frequency": 1.82, "frequency_excl_hypermutated": 1.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.07, "width": 7.66, "reference": 13.73, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 22, "tested": 534, "frequency": 4.12, "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": "MSH2", "alteration_types": ["SNV / small indel", "deep deletion", "amplification"], "altered": 21, "tested": 534, "frequency": 3.93, "cohort_count": 3, "frequency_range": {"min": 1.94, "max": 3.93}, "major_variants": ["E580* (n=2)", "R406Q (n=2)", "C697Y (n=1)", "S168P (n=1)", "N799del (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 21/534 patients (3.93%).", "Without the 60 hypermutated patients: 5/474 (1.05%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 21, "tested": 534, "frequency": 3.93, "frequency_excl_hypermutated": 1.05, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 12, "tested": 619, "frequency": 1.94, "frequency_excl_hypermutated": 1.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 31, "tested": 1099, "frequency": 2.82, "frequency_excl_hypermutated": 2.21, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.47, "width": 6.63, "reference": 13.1, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 21, "tested": 534, "frequency": 3.93, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NTRK1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 9, "tested": 534, "frequency": 1.69, "cohort_count": 3, "frequency_range": {"min": 1.69, "max": 3.55}, "major_variants": ["V341M (n=2)", "R673G (n=1)", "R692C (n=1)", "R104H (n=1)", "E755* (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 9/534 patients (1.69%).", "Without the 60 hypermutated patients: 4/474 (0.84%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 9, "tested": 534, "frequency": 1.69, "frequency_excl_hypermutated": 0.84, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 22, "tested": 619, "frequency": 3.55, "frequency_excl_hypermutated": 3.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 35, "tested": 1099, "frequency": 3.18, "frequency_excl_hypermutated": 2.57, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.63, "width": 6.2, "reference": 5.63, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 534, "frequency": 1.69, "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": "CEACAM5", "alteration_types": ["SNV / small indel", "amplification"], "altered": 7, "tested": 534, "frequency": 1.31, "cohort_count": 2, "frequency_range": {"min": 1.31, "max": 1.45}, "major_variants": ["R225C (n=2)", "L640I (n=2)", "S603L (n=1)", "R581H (n=1)", "G196R (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 7/534 patients (1.31%).", "Without the 60 hypermutated patients: 2/474 (0.42%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 7, "tested": 534, "frequency": 1.31, "frequency_excl_hypermutated": 0.42, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 9, "tested": 619, "frequency": 1.45, "frequency_excl_hypermutated": 1.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 4.37, "width": 1.0, "reference": 4.37, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 534, "frequency": 1.31, "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": "FBXW7", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 90, "tested": 534, "frequency": 16.85, "cohort_count": 3, "frequency_range": {"min": 12.83, "max": 16.85}, "major_variants": ["R465H (n=12)", "R465C (n=9)", "R367* (n=6)", "S582L (n=5)", "R505C (n=5)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 90/534 patients (16.85%).", "Without the 60 hypermutated patients: 65/474 (13.71%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 90, "tested": 534, "frequency": 16.85, "frequency_excl_hypermutated": 13.71, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 85, "tested": 619, "frequency": 13.73, "frequency_excl_hypermutated": 13.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 141, "tested": 1099, "frequency": 12.83, "frequency_excl_hypermutated": 12.13, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 42.77, "width": 13.4, "reference": 56.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 90, "tested": 534, "frequency": 16.85, "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": "SDK1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 70, "tested": 534, "frequency": 13.11, "cohort_count": 2, "frequency_range": {"min": 13.11, "max": 14.86}, "major_variants": ["R820W (n=3)", "T1181M (n=3)", "R780W (n=2)", "R172Q (n=2)", "R121H (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 70/534 patients (13.11%).", "Without the 60 hypermutated patients: 39/474 (8.23%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 70, "tested": 534, "frequency": 13.11, "frequency_excl_hypermutated": 8.23, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 92, "tested": 619, "frequency": 14.86, "frequency_excl_hypermutated": 13.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 43.7, "width": 5.83, "reference": 43.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 70, "tested": 534, "frequency": 13.11, "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": "UNC80", "alteration_types": ["SNV / small indel"], "altered": 69, "tested": 534, "frequency": 12.92, "cohort_count": 2, "frequency_range": {"min": 0.97, "max": 12.92}, "major_variants": ["R174Q (n=2)", "R1025W (n=2)", "D1319Y (n=1)", "E480K (n=1)", "D1505N (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 69/534 patients (12.92%).", "Without the 60 hypermutated patients: 41/474 (8.65%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 69, "tested": 534, "frequency": 12.92, "frequency_excl_hypermutated": 8.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 6, "tested": 619, "frequency": 0.97, "frequency_excl_hypermutated": 0.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 3.23, "width": 39.84, "reference": 43.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 69, "tested": 534, "frequency": 12.92, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ATM", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 69, "tested": 534, "frequency": 12.92, "cohort_count": 3, "frequency_range": {"min": 7.55, "max": 12.92}, "major_variants": ["R337C (n=5)", "R250* (n=4)", "R1730* (n=3)", "R337H (n=2)", "F61Lfs*15 (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 69/534 patients (12.92%).", "Without the 60 hypermutated patients: 34/474 (7.17%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 69, "tested": 534, "frequency": 12.92, "frequency_excl_hypermutated": 7.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 58, "tested": 619, "frequency": 9.37, "frequency_excl_hypermutated": 8.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 83, "tested": 1099, "frequency": 7.55, "frequency_excl_hypermutated": 6.71, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 25.17, "width": 17.9, "reference": 43.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 69, "tested": 534, "frequency": 12.92, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "DCHS2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 67, "tested": 534, "frequency": 12.55, "cohort_count": 2, "frequency_range": {"min": 7.92, "max": 12.55}, "major_variants": ["R129W (n=2)", "F2149L (n=2)", "A143T (n=2)", "G474R (n=2)", "Q841Pfs*31 (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 67/534 patients (12.55%).", "Without the 60 hypermutated patients: 29/474 (6.12%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 67, "tested": 534, "frequency": 12.55, "frequency_excl_hypermutated": 6.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 49, "tested": 619, "frequency": 7.92, "frequency_excl_hypermutated": 7.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 26.4, "width": 15.43, "reference": 41.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 67, "tested": 534, "frequency": 12.55, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "AMER1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 67, "tested": 534, "frequency": 12.55, "cohort_count": 3, "frequency_range": {"min": 5.91, "max": 12.55}, "major_variants": ["R497* (n=5)", "F173Lfs*36 (n=5)", "R353* (n=4)", "R358* (n=4)", "R601* (n=4)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 67/534 patients (12.55%).", "Without the 60 hypermutated patients: 47/474 (9.92%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 67, "tested": 534, "frequency": 12.55, "frequency_excl_hypermutated": 9.92, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 52, "tested": 619, "frequency": 8.4, "frequency_excl_hypermutated": 8.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 65, "tested": 1099, "frequency": 5.91, "frequency_excl_hypermutated": 5.51, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 19.7, "width": 22.13, "reference": 41.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 67, "tested": 534, "frequency": 12.55, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "COL6A3", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 65, "tested": 534, "frequency": 12.17, "cohort_count": 2, "frequency_range": {"min": 10.34, "max": 12.17}, "major_variants": ["A611T (n=3)", "A325T (n=3)", "D2792N (n=2)", "T2879M (n=2)", "D2619N (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 65/534 patients (12.17%).", "Without the 60 hypermutated patients: 37/474 (7.81%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 65, "tested": 534, "frequency": 12.17, "frequency_excl_hypermutated": 7.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 64, "tested": 619, "frequency": 10.34, "frequency_excl_hypermutated": 9.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 34.47, "width": 6.1, "reference": 40.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 65, "tested": 534, "frequency": 12.17, "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": "CACNA1E", "alteration_types": ["SNV / small indel", "amplification"], "altered": 65, "tested": 534, "frequency": 12.17, "cohort_count": 2, "frequency_range": {"min": 6.95, "max": 12.17}, "major_variants": ["R1901C (n=2)", "A802V (n=2)", "X1240_splice (n=2)", "A1240V (n=1)", "Q223* (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 65/534 patients (12.17%).", "Without the 60 hypermutated patients: 36/474 (7.59%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 65, "tested": 534, "frequency": 12.17, "frequency_excl_hypermutated": 7.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 43, "tested": 619, "frequency": 6.95, "frequency_excl_hypermutated": 5.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.17, "width": 17.4, "reference": 40.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 65, "tested": 534, "frequency": 12.17, "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": "SOX9", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 64, "tested": 534, "frequency": 11.99, "cohort_count": 3, "frequency_range": {"min": 9.65, "max": 11.99}, "major_variants": ["R257Afs*39 (n=3)", "K167del (n=3)", "Q164P (n=2)", "P176S (n=2)", "D274Wfs*6 (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 64/534 patients (11.99%).", "Without the 60 hypermutated patients: 57/474 (12.03%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 64, "tested": 534, "frequency": 11.99, "frequency_excl_hypermutated": 12.03, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 62, "tested": 619, "frequency": 10.02, "frequency_excl_hypermutated": 9.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 106, "tested": 1099, "frequency": 9.65, "frequency_excl_hypermutated": 9.74, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 32.17, "width": 7.8, "reference": 39.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 64, "tested": 534, "frequency": 11.99, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PCDH15", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 63, "tested": 534, "frequency": 11.8, "cohort_count": 2, "frequency_range": {"min": 9.05, "max": 11.8}, "major_variants": ["T301M (n=2)", "R1545I (n=2)", "K1263Rfs*2 (n=2)", "P376R (n=1)", "A1610T (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 63/534 patients (11.8%).", "Without the 60 hypermutated patients: 33/474 (6.96%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 63, "tested": 534, "frequency": 11.8, "frequency_excl_hypermutated": 6.96, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 56, "tested": 619, "frequency": 9.05, "frequency_excl_hypermutated": 8.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.17, "width": 9.16, "reference": 39.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 63, "tested": 534, "frequency": 11.8, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NBEA", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 62, "tested": 534, "frequency": 11.61, "cohort_count": 2, "frequency_range": {"min": 7.43, "max": 11.61}, "major_variants": ["E1710K (n=4)", "R744I (n=3)", "E103* (n=2)", "R2412Q (n=2)", "N1121Mfs*9 (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 62/534 patients (11.61%).", "Without the 60 hypermutated patients: 32/474 (6.75%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 62, "tested": 534, "frequency": 11.61, "frequency_excl_hypermutated": 6.75, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 46, "tested": 619, "frequency": 7.43, "frequency_excl_hypermutated": 6.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 24.77, "width": 13.93, "reference": 38.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 62, "tested": 534, "frequency": 11.61, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2D", "alteration_types": ["SNV / small indel"], "altered": 62, "tested": 534, "frequency": 11.61, "cohort_count": 3, "frequency_range": {"min": 9.55, "max": 12.28}, "major_variants": ["P2354Lfs*30 (n=7)", "R5351L (n=2)", "A2133T (n=2)", "R5454Q (n=2)", "R4960* (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 62/534 patients (11.61%).", "Without the 60 hypermutated patients: 22/474 (4.64%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 62, "tested": 534, "frequency": 11.61, "frequency_excl_hypermutated": 4.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 76, "tested": 619, "frequency": 12.28, "frequency_excl_hypermutated": 10.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 105, "tested": 1099, "frequency": 9.55, "frequency_excl_hypermutated": 8.64, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.83, "width": 9.1, "reference": 38.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 62, "tested": 534, "frequency": 11.61, "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": "COL12A1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 62, "tested": 534, "frequency": 11.61, "cohort_count": 2, "frequency_range": {"min": 8.56, "max": 11.61}, "major_variants": ["K2532N (n=2)", "D910Y (n=2)", "G2104D (n=1)", "Y512D (n=1)", "A1867T (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 62/534 patients (11.61%).", "Without the 60 hypermutated patients: 30/474 (6.33%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 62, "tested": 534, "frequency": 11.61, "frequency_excl_hypermutated": 6.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 53, "tested": 619, "frequency": 8.56, "frequency_excl_hypermutated": 7.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 28.53, "width": 10.17, "reference": 38.7, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 62, "tested": 534, "frequency": 11.61, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MDN1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 61, "tested": 534, "frequency": 11.42, "cohort_count": 2, "frequency_range": {"min": 11.42, "max": 12.44}, "major_variants": ["K2642Nfs*17 (n=2)", "R5570* (n=2)", "R4142H (n=2)", "F2691Lfs*7 (n=2)", "R3762C (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 61/534 patients (11.42%).", "Without the 60 hypermutated patients: 28/474 (5.91%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 61, "tested": 534, "frequency": 11.42, "frequency_excl_hypermutated": 5.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 77, "tested": 619, "frequency": 12.44, "frequency_excl_hypermutated": 10.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 38.07, "width": 3.4, "reference": 38.07, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 61, "tested": 534, "frequency": 11.42, "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": "BLTP1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 60, "tested": 534, "frequency": 11.24, "cohort_count": 2, "frequency_range": {"min": 9.21, "max": 11.24}, "major_variants": ["S4937Y (n=3)", "R4774C (n=2)", "K1797N (n=2)", "N2385S (n=1)", "P983L (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 60/534 patients (11.24%).", "Without the 60 hypermutated patients: 27/474 (5.7%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 60, "tested": 534, "frequency": 11.24, "frequency_excl_hypermutated": 5.7, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 57, "tested": 619, "frequency": 9.21, "frequency_excl_hypermutated": 7.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.7, "width": 6.77, "reference": 37.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 60, "tested": 534, "frequency": 11.24, "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": "VPS13B", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 59, "tested": 534, "frequency": 11.05, "cohort_count": 2, "frequency_range": {"min": 9.21, "max": 11.05}, "major_variants": ["R2303W (n=2)", "F1430L (n=2)", "A3634T (n=2)", "L58* (n=2)", "L90* (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 59/534 patients (11.05%).", "Without the 60 hypermutated patients: 26/474 (5.49%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 59, "tested": 534, "frequency": 11.05, "frequency_excl_hypermutated": 5.49, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 57, "tested": 619, "frequency": 9.21, "frequency_excl_hypermutated": 7.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.7, "width": 6.13, "reference": 36.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 59, "tested": 534, "frequency": 11.05, "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": "TRPS1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 59, "tested": 534, "frequency": 11.05, "cohort_count": 2, "frequency_range": {"min": 9.05, "max": 11.05}, "major_variants": ["R1112W (n=2)", "E349K (n=2)", "H1014R (n=1)", "L958R (n=1)", "Y434H (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 59/534 patients (11.05%).", "Without the 60 hypermutated patients: 32/474 (6.75%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 59, "tested": 534, "frequency": 11.05, "frequency_excl_hypermutated": 6.75, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 56, "tested": 619, "frequency": 9.05, "frequency_excl_hypermutated": 8.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.17, "width": 6.66, "reference": 36.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 59, "tested": 534, "frequency": 11.05, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "UNC13C", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 58, "tested": 534, "frequency": 10.86, "cohort_count": 2, "frequency_range": {"min": 6.62, "max": 10.86}, "major_variants": ["E2199* (n=4)", "G2150R (n=3)", "R182Q (n=3)", "R832I (n=2)", "F1525Lfs*3 (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 58/534 patients (10.86%).", "Without the 60 hypermutated patients: 36/474 (7.59%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 58, "tested": 534, "frequency": 10.86, "frequency_excl_hypermutated": 7.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 41, "tested": 619, "frequency": 6.62, "frequency_excl_hypermutated": 5.5, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 22.07, "width": 14.13, "reference": 36.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 58, "tested": 534, "frequency": 10.86, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TCF7L2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 58, "tested": 534, "frequency": 10.86, "cohort_count": 3, "frequency_range": {"min": 6.95, "max": 13.56}, "major_variants": ["R471C (n=4)", "L200Sfs*25 (n=4)", "R420W (n=3)", "R455* (n=2)", "R471H (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 58/534 patients (10.86%).", "Without the 60 hypermutated patients: 41/474 (8.65%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 58, "tested": 534, "frequency": 10.86, "frequency_excl_hypermutated": 8.65, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 43, "tested": 619, "frequency": 6.95, "frequency_excl_hypermutated": 6.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 122, "tested": 900, "frequency": 13.56, "frequency_excl_hypermutated": 13.39, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.17, "width": 22.03, "reference": 36.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 58, "tested": 534, "frequency": 10.86, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PCDH17", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 58, "tested": 534, "frequency": 10.86, "cohort_count": 2, "frequency_range": {"min": 10.86, "max": 12.76}, "major_variants": ["V478M (n=2)", "A225T (n=2)", "L1072V (n=2)", "V692A (n=1)", "G39S (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 58/534 patients (10.86%).", "Without the 60 hypermutated patients: 33/474 (6.96%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 58, "tested": 534, "frequency": 10.86, "frequency_excl_hypermutated": 6.96, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 79, "tested": 619, "frequency": 12.76, "frequency_excl_hypermutated": 11.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 36.2, "width": 6.33, "reference": 36.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 58, "tested": 534, "frequency": 10.86, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2B", "alteration_types": ["SNV / small indel", "amplification"], "altered": 58, "tested": 534, "frequency": 10.86, "cohort_count": 3, "frequency_range": {"min": 6.79, "max": 11.11}, "major_variants": ["G1879Vfs*16 (n=4)", "R2332C (n=2)", "E324K (n=2)", "R1517* (n=2)", "R1302C (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 58/534 patients (10.86%).", "Without the 60 hypermutated patients: 24/474 (5.06%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 58, "tested": 534, "frequency": 10.86, "frequency_excl_hypermutated": 5.06, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 42, "tested": 619, "frequency": 6.79, "frequency_excl_hypermutated": 6.0, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 1, "tested": 9, "frequency": 11.11, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 22.63, "width": 14.4, "reference": 36.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 58, "tested": 534, "frequency": 10.86, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ROBO2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 57, "tested": 534, "frequency": 10.67, "cohort_count": 2, "frequency_range": {"min": 7.75, "max": 10.67}, "major_variants": ["R1135* (n=2)", "V42I (n=2)", "R479W (n=1)", "S932T (n=1)", "R785Q (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 57/534 patients (10.67%).", "Without the 60 hypermutated patients: 34/474 (7.17%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 57, "tested": 534, "frequency": 10.67, "frequency_excl_hypermutated": 7.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 48, "tested": 619, "frequency": 7.75, "frequency_excl_hypermutated": 7.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 25.83, "width": 9.74, "reference": 35.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 57, "tested": 534, "frequency": 10.67, "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": "HECW1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 57, "tested": 534, "frequency": 10.67, "cohort_count": 2, "frequency_range": {"min": 8.4, "max": 10.67}, "major_variants": ["P1247L (n=2)", "R1461C (n=2)", "R995H (n=2)", "A1167V (n=1)", "Q395R (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 57/534 patients (10.67%).", "Without the 60 hypermutated patients: 36/474 (7.59%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 57, "tested": 534, "frequency": 10.67, "frequency_excl_hypermutated": 7.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 52, "tested": 619, "frequency": 8.4, "frequency_excl_hypermutated": 7.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 28.0, "width": 7.57, "reference": 35.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 57, "tested": 534, "frequency": 10.67, "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": "ARID1A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 57, "tested": 534, "frequency": 10.67, "cohort_count": 3, "frequency_range": {"min": 9.46, "max": 10.82}, "major_variants": ["F2141Sfs*59 (n=5)", "D1850Tfs*33 (n=5)", "R1989* (n=4)", "Q521* (n=2)", "K1072Nfs*21 (n=2)"], "evidence_confidence": "moderate", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "See the disease briefing's target table; not inferred from frequency.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry."], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 57/534 patients (10.67%).", "Without the 60 hypermutated patients: 28/474 (5.91%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 57, "tested": 534, "frequency": 10.67, "frequency_excl_hypermutated": 5.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 67, "tested": 619, "frequency": 10.82, "frequency_excl_hypermutated": 9.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 104, "tested": 1099, "frequency": 9.46, "frequency_excl_hypermutated": 8.82, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.53, "width": 4.54, "reference": 35.57, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 57, "tested": 534, "frequency": 10.67, "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": "PTPRT", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 56, "tested": 534, "frequency": 10.49, "cohort_count": 3, "frequency_range": {"min": 6.92, "max": 10.49}, "major_variants": ["R1226* (n=2)", "P386L (n=2)", "A731T (n=2)", "R1086C (n=1)", "G855R (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 56/534 patients (10.49%).", "Without the 60 hypermutated patients: 37/474 (7.81%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 56, "tested": 534, "frequency": 10.49, "frequency_excl_hypermutated": 7.81, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 52, "tested": 619, "frequency": 8.4, "frequency_excl_hypermutated": 7.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 76, "tested": 1099, "frequency": 6.92, "frequency_excl_hypermutated": 6.34, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.07, "width": 11.9, "reference": 34.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 56, "tested": 534, "frequency": 10.49, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PKHD1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 56, "tested": 534, "frequency": 10.49, "cohort_count": 2, "frequency_range": {"min": 9.37, "max": 10.49}, "major_variants": ["S1400L (n=1)", "R3913C (n=1)", "V3412A (n=1)", "P724T (n=1)", "P1545Qfs*47 (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 56/534 patients (10.49%).", "Without the 60 hypermutated patients: 28/474 (5.91%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 56, "tested": 534, "frequency": 10.49, "frequency_excl_hypermutated": 5.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 58, "tested": 619, "frequency": 9.37, "frequency_excl_hypermutated": 7.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.23, "width": 3.74, "reference": 34.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 56, "tested": 534, "frequency": 10.49, "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": "MYCBP2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 56, "tested": 534, "frequency": 10.49, "cohort_count": 2, "frequency_range": {"min": 8.72, "max": 10.49}, "major_variants": ["R1103* (n=2)", "E168D (n=1)", "R3947C (n=1)", "R4035H (n=1)", "F1199V (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 56/534 patients (10.49%).", "Without the 60 hypermutated patients: 19/474 (4.01%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 56, "tested": 534, "frequency": 10.49, "frequency_excl_hypermutated": 4.01, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 54, "tested": 619, "frequency": 8.72, "frequency_excl_hypermutated": 7.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 29.07, "width": 5.9, "reference": 34.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 56, "tested": 534, "frequency": 10.49, "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": "FREM2", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 56, "tested": 534, "frequency": 10.49, "cohort_count": 2, "frequency_range": {"min": 9.37, "max": 10.49}, "major_variants": ["R2278C (n=2)", "V795M (n=2)", "P555L (n=1)", "R2527H (n=1)", "R1520W (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 56/534 patients (10.49%).", "Without the 60 hypermutated patients: 30/474 (6.33%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 56, "tested": 534, "frequency": 10.49, "frequency_excl_hypermutated": 6.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 58, "tested": 619, "frequency": 9.37, "frequency_excl_hypermutated": 7.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.23, "width": 3.74, "reference": 34.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 56, "tested": 534, "frequency": 10.49, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FAT2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 56, "tested": 534, "frequency": 10.49, "cohort_count": 2, "frequency_range": {"min": 10.49, "max": 12.28}, "major_variants": ["R3265H (n=2)", "R973Q (n=2)", "R2728W (n=2)", "S4334F (n=1)", "Q1857R (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 56/534 patients (10.49%).", "Without the 60 hypermutated patients: 29/474 (6.12%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 56, "tested": 534, "frequency": 10.49, "frequency_excl_hypermutated": 6.12, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 76, "tested": 619, "frequency": 12.28, "frequency_excl_hypermutated": 10.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 34.97, "width": 5.96, "reference": 34.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 56, "tested": 534, "frequency": 10.49, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FAT1", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 56, "tested": 534, "frequency": 10.49, "cohort_count": 3, "frequency_range": {"min": 7.01, "max": 10.5}, "major_variants": ["D2382N (n=2)", "R227C (n=2)", "F4273L (n=2)", "R1453H (n=1)", "T4422A (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 56/534 patients (10.49%).", "Without the 60 hypermutated patients: 17/474 (3.59%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 56, "tested": 534, "frequency": 10.49, "frequency_excl_hypermutated": 3.59, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 65, "tested": 619, "frequency": 10.5, "frequency_excl_hypermutated": 9.17, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 77, "tested": 1099, "frequency": 7.01, "frequency_excl_hypermutated": 6.07, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.37, "width": 11.63, "reference": 34.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 56, "tested": 534, "frequency": 10.49, "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": "EYS", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 56, "tested": 534, "frequency": 10.49, "cohort_count": 2, "frequency_range": {"min": 1.94, "max": 10.49}, "major_variants": ["X1882_splice (n=2)", "C189Y (n=1)", "K220Nfs*37 (n=1)", "R1877W (n=1)", "L3100I (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 56/534 patients (10.49%).", "Without the 60 hypermutated patients: 31/474 (6.54%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 56, "tested": 534, "frequency": 10.49, "frequency_excl_hypermutated": 6.54, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 12, "tested": 619, "frequency": 1.94, "frequency_excl_hypermutated": 1.67, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 6.47, "width": 28.5, "reference": 34.97, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 56, "tested": 534, "frequency": 10.49, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RNF213", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 55, "tested": 534, "frequency": 10.3, "cohort_count": 2, "frequency_range": {"min": 10.3, "max": 12.76}, "major_variants": ["Y2351F (n=1)", "D2640G (n=1)", "P305del (n=1)", "L110M (n=1)", "K2426E (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 55/534 patients (10.3%).", "Without the 60 hypermutated patients: 26/474 (5.49%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 55, "tested": 534, "frequency": 10.3, "frequency_excl_hypermutated": 5.49, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 79, "tested": 619, "frequency": 12.76, "frequency_excl_hypermutated": 11.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 34.33, "width": 8.2, "reference": 34.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 55, "tested": 534, "frequency": 10.3, "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": "RELN", "alteration_types": ["SNV / small indel", "amplification", "deep deletion"], "altered": 55, "tested": 534, "frequency": 10.3, "cohort_count": 2, "frequency_range": {"min": 8.89, "max": 10.3}, "major_variants": ["S1378F (n=2)", "R1727W (n=2)", "F2722L (n=2)", "A924E (n=1)", "F1365I (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 55/534 patients (10.3%).", "Without the 60 hypermutated patients: 28/474 (5.91%).", "Observed in 2 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 55, "tested": 534, "frequency": 10.3, "frequency_excl_hypermutated": 5.91, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 55, "tested": 619, "frequency": 8.89, "frequency_excl_hypermutated": 7.33, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 29.63, "width": 4.7, "reference": 34.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 55, "tested": 534, "frequency": 10.3, "is_mutation": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2C", "alteration_types": ["SNV / small indel", "amplification"], "altered": 55, "tested": 534, "frequency": 10.3, "cohort_count": 3, "frequency_range": {"min": 6.1, "max": 14.05}, "major_variants": ["F4496Lfs*21 (n=3)", "R839T (n=1)", "K3609Rfs*20 (n=1)", "P4033L (n=1)", "W4352Mfs*17 (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 · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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: TCGA PanCancer Atlas colorectal (2018), 55/534 patients (10.3%).", "Without the 60 hypermutated patients: 27/474 (5.7%).", "Observed in 3 of 3 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "cohort_name": "TCGA PanCancer Atlas colorectal (2018)", "altered": 55, "tested": 534, "frequency": 10.3, "frequency_excl_hypermutated": 5.7, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "534/594", "coverage_note": null, "source_id": "coadread_tcga_pan_can_atlas_2018", "is_reference": true}, {"cohort": "coadread_dfci_2016", "cohort_name": "DFCI colorectal (Cell Reports 2016)", "altered": 87, "tested": 619, "frequency": 14.05, "frequency_excl_hypermutated": 12.83, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "619/619", "coverage_note": null, "source_id": "coadread_dfci_2016", "is_reference": false}, {"cohort": "crc_msk_2017", "cohort_name": "MSK metastatic colorectal (Cancer Cell 2018)", "altered": 67, "tested": 1099, "frequency": 6.1, "frequency_excl_hypermutated": 5.15, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "1134/1134", "coverage_note": null, "source_id": "crc_msk_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 20.33, "width": 26.5, "reference": 34.33, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 55, "tested": 534, "frequency": 10.3, "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": "PTPRT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PTPRT amplification", "genomic_coordinate": null, "observed": 44, "observed_status": "observed", "observed_unit": "patients", "tested": 592, "tested_status": "observed", "tested_unit": "patients", "frequency": 7.43, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["coadread_tcga_pan_can_atlas_2018"], "source_ids": ["coadread_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SMAD4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SMAD4 deep deletion", "genomic_coordinate": null, "observed": 28, "observed_status": "observed", "observed_unit": "patients", "tested": 592, "tested_status": "observed", "tested_unit": "patients", "frequency": 4.73, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["coadread_tcga_pan_can_atlas_2018"], "source_ids": ["coadread_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "SMAD4", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "SMAD4 deep deletion", "genomic_coordinate": null, "observed": 41, "observed_status": "observed", "observed_unit": "patients", "tested": 1099, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.73, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["crc_msk_2017"], "source_ids": ["crc_msk_2017_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ERBB2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ERBB2 amplification", "genomic_coordinate": null, "observed": 20, "observed_status": "observed", "observed_unit": "patients", "tested": 592, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.38, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["coadread_tcga_pan_can_atlas_2018"], "source_ids": ["coadread_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "TRPS1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "TRPS1 amplification", "genomic_coordinate": null, "observed": 20, "observed_status": "observed", "observed_unit": "patients", "tested": 592, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.38, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["coadread_tcga_pan_can_atlas_2018"], "source_ids": ["coadread_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ERBB2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "ERBB2 amplification", "genomic_coordinate": null, "observed": 34, "observed_status": "observed", "observed_unit": "patients", "tested": 1099, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.09, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["crc_msk_2017"], "source_ids": ["crc_msk_2017_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "APC", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "APC deep deletion", "genomic_coordinate": null, "observed": 18, "observed_status": "observed", "observed_unit": "patients", "tested": 592, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.04, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["coadread_tcga_pan_can_atlas_2018"], "source_ids": ["coadread_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FREM2", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "FREM2 amplification", "genomic_coordinate": null, "observed": 18, "observed_status": "observed", "observed_unit": "patients", "tested": 592, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.04, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["coadread_tcga_pan_can_atlas_2018"], "source_ids": ["coadread_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "NBEA", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "NBEA amplification", "genomic_coordinate": null, "observed": 17, "observed_status": "observed", "observed_unit": "patients", "tested": 592, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.87, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["coadread_tcga_pan_can_atlas_2018"], "source_ids": ["coadread_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "VPS13B", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "VPS13B amplification", "genomic_coordinate": null, "observed": 17, "observed_status": "observed", "observed_unit": "patients", "tested": 592, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.87, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["coadread_tcga_pan_can_atlas_2018"], "source_ids": ["coadread_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PTPRT", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "PTPRT amplification", "genomic_coordinate": null, "observed": 30, "observed_status": "observed", "observed_unit": "patients", "tested": 1099, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.73, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["crc_msk_2017"], "source_ids": ["crc_msk_2017_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "FAT1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "FAT1 deep deletion", "genomic_coordinate": null, "observed": 14, "observed_status": "observed", "observed_unit": "patients", "tested": 592, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.36, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["coadread_tcga_pan_can_atlas_2018"], "source_ids": ["coadread_tcga_pan_can_atlas_2018_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 3, "total_cohorts": 3}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 3}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 3}], "chromosome_summary": [], "cohorts": [{"name": "TCGA PanCancer Atlas colorectal (2018)", "source": "cBioPortal", "accession": "coadread_tcga_pan_can_atlas_2018", "patients": {"value": 534, "status": "observed", "unit": "patients"}, "samples": {"value": 534, "status": "observed", "unit": "samples"}, "disease_subtype": "Colorectal Adenocarcinoma (TCGA, PanCancer Atlas)", "assay_type": "exome or genome", "sequencing_method": "WES (534)", "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": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "is_demo": false, "assay_coverage": {"patients_with_calls": 534, "patients_in_roster": 534, "frequencies_computed": true, "samples_sequenced": 534, "samples_in_study": 594, "hypermutated_patients": 60, "median_mutations_per_sample": 101.0, "reason": null}}, {"name": "DFCI colorectal (Cell Reports 2016)", "source": "cBioPortal", "accession": "coadread_dfci_2016", "patients": {"value": 619, "status": "observed", "unit": "patients"}, "samples": {"value": 619, "status": "observed", "unit": "samples"}, "disease_subtype": "Colorectal Adenocarcinoma (DFCI, Cell Reports 2016)", "assay_type": "exome or genome", "sequencing_method": "WES (619)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel"], "genes_assayed": "all coding genes", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "coadread_dfci_2016", "is_demo": false, "assay_coverage": {"patients_with_calls": 619, "patients_in_roster": 619, "frequencies_computed": true, "samples_sequenced": 619, "samples_in_study": 619, "hypermutated_patients": 19, "median_mutations_per_sample": 142, "reason": null}}, {"name": "MSK metastatic colorectal (Cancer Cell 2018)", "source": "cBioPortal", "accession": "crc_msk_2017", "patients": {"value": 1099, "status": "observed", "unit": "patients"}, "samples": {"value": 1134, "status": "observed", "unit": "samples"}, "disease_subtype": "Metastatic Colorectal Cancer (MSK, Cancer Cell 2018)", "assay_type": "targeted panel", "sequencing_method": "IMPACT410 (911), IMPACT341 (214), IMPACT468 (9)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-17", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "crc_msk_2017", "is_demo": false, "assay_coverage": {"patients_with_calls": 1099, "patients_in_roster": 1099, "frequencies_computed": true, "samples_sequenced": 1134, "samples_in_study": 1134, "hypermutated_patients": 11, "median_mutations_per_sample": 7.0, "reason": null}}], "sources": [{"source_name": "cBioPortal · TCGA PanCancer Atlas colorectal (2018)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018", "source_record_id": "coadread_tcga_pan_can_atlas_2018", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · DFCI colorectal (Cell Reports 2016)", "source_url": "https://www.cbioportal.org/study/summary?id=coadread_dfci_2016", "source_record_id": "coadread_dfci_2016", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK metastatic colorectal (Cancer Cell 2018)", "source_url": "https://www.cbioportal.org/study/summary?id=crc_msk_2017", "source_record_id": "crc_msk_2017", "source_version": null, "retrieved_at": "2026-09-17", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "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 2026-09-17; 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 TCGA PanCancer Atlas colorectal (2018) (534 sequenced patients, exome or genome), the most frequently altered of the 46 genes shown are APC 72.47%, TP53 58.43%, KRAS 40.82%, PIK3CA 27.53%, FBXW7 16.85%. Each figure divides by the patients on whom that gene could be called.", "60 of 534 patients are hypermutated (more than 1010 non-silent mutations, ten times the cohort median of 101); every gene's frequency without them is beside the headline.", "Of the briefing's 12 curated targets, 2 are altered in under 2% of this cohort (NTRK1, CEACAM5): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "3 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "APC is mutated in 387 of 534 patients in TCGA PanCancer Atlas colorectal (2018).", "numerator": 387, "denominator": 534, "frequency": 72.47, "cohorts": 3, "evidence_confidence": "moderate", "source": "coadread_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}, {"finding": "TP53 is mutated in 312 of 534 patients in TCGA PanCancer Atlas colorectal (2018).", "numerator": 312, "denominator": 534, "frequency": 58.43, "cohorts": 3, "evidence_confidence": "moderate", "source": "coadread_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}, {"finding": "KRAS is mutated in 218 of 534 patients in TCGA PanCancer Atlas colorectal (2018).", "numerator": 218, "denominator": 534, "frequency": 40.82, "cohorts": 3, "evidence_confidence": "moderate", "source": "coadread_tcga_pan_can_atlas_2018", "retrieved_at": "2026-09-17"}], "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": "coadread_tcga_pan_can_atlas_2018", "region_events": [], "matrix": [{"label": "APC", "kind": "SNV / small indel", "gene": "APC", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 72.47, "altered": 387, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 58.32, "altered": 361, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 76.98, "altered": 846, "tested": 1099, "note": null}]}, {"label": "APC", "kind": "deep deletion", "gene": "APC", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.04, "altered": 18, "tested": 592, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "coadread_dfci_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 0.64, "altered": 7, "tested": 1099, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KRAS", "kind": "SNV / small indel", "gene": "KRAS", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 40.82, "altered": 218, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 27.95, "altered": 173, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 44.22, "altered": 486, "tested": 1099, "note": null}]}, {"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 58.43, "altered": 312, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 51.05, "altered": 316, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 72.7, "altered": 799, "tested": 1099, "note": null}]}, {"label": "SMAD4", "kind": "SNV / small indel", "gene": "SMAD4", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.55, "altered": 67, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 11.63, "altered": 72, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 15.2, "altered": 167, "tested": 1099, "note": null}]}, {"label": "SMAD4", "kind": "deep deletion", "gene": "SMAD4", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.73, "altered": 28, "tested": 592, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "coadread_dfci_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 3.73, "altered": 41, "tested": 1099, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "BRAF", "kind": "SNV / small indel", "gene": "BRAF", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.61, "altered": 62, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 20.52, "altered": 127, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 10.83, "altered": 119, "tested": 1099, "note": null}]}, {"label": "EGFR", "kind": "SNV / small indel", "gene": "EGFR", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.62, "altered": 14, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 4.52, "altered": 28, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 2.73, "altered": 30, "tested": 1099, "note": null}]}, {"label": "ERBB2", "kind": "SNV / small indel", "gene": "ERBB2", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.56, "altered": 19, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 5.82, "altered": 36, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 4.73, "altered": 52, "tested": 1099, "note": null}]}, {"label": "ERBB2", "kind": "amplification", "gene": "ERBB2", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.38, "altered": 20, "tested": 592, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "coadread_dfci_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 3.09, "altered": 34, "tested": 1099, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 27.53, "altered": 147, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 21.32, "altered": 132, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 20.38, "altered": 224, "tested": 1099, "note": null}]}, {"label": "MLH1", "kind": "SNV / small indel", "gene": "MLH1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 4.12, "altered": 22, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 3.88, "altered": 24, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 1.82, "altered": 20, "tested": 1099, "note": null}]}, {"label": "MSH2", "kind": "SNV / small indel", "gene": "MSH2", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.93, "altered": 21, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 1.94, "altered": 12, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 2.82, "altered": 31, "tested": 1099, "note": null}]}, {"label": "NTRK1", "kind": "SNV / small indel", "gene": "NTRK1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.69, "altered": 9, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 3.55, "altered": 22, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 3.18, "altered": 35, "tested": 1099, "note": null}]}, {"label": "CEACAM5", "kind": "SNV / small indel", "gene": "CEACAM5", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 1.31, "altered": 7, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 1.45, "altered": 9, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FBXW7", "kind": "SNV / small indel", "gene": "FBXW7", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 16.85, "altered": 90, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 13.73, "altered": 85, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 12.83, "altered": 141, "tested": 1099, "note": null}]}, {"label": "SDK1", "kind": "SNV / small indel", "gene": "SDK1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 13.11, "altered": 70, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 14.86, "altered": 92, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "UNC80", "kind": "SNV / small indel", "gene": "UNC80", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.92, "altered": 69, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 0.97, "altered": 6, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ATM", "kind": "SNV / small indel", "gene": "ATM", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.92, "altered": 69, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 9.37, "altered": 58, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 7.55, "altered": 83, "tested": 1099, "note": null}]}, {"label": "DCHS2", "kind": "SNV / small indel", "gene": "DCHS2", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.55, "altered": 67, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 7.92, "altered": 49, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "AMER1", "kind": "SNV / small indel", "gene": "AMER1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.55, "altered": 67, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 8.4, "altered": 52, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 5.91, "altered": 65, "tested": 1099, "note": null}]}, {"label": "COL6A3", "kind": "SNV / small indel", "gene": "COL6A3", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.17, "altered": 65, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 10.34, "altered": 64, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "CACNA1E", "kind": "SNV / small indel", "gene": "CACNA1E", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 12.17, "altered": 65, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 6.95, "altered": 43, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SOX9", "kind": "SNV / small indel", "gene": "SOX9", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.99, "altered": 64, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 10.02, "altered": 62, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 9.65, "altered": 106, "tested": 1099, "note": null}]}, {"label": "PCDH15", "kind": "SNV / small indel", "gene": "PCDH15", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.8, "altered": 63, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 9.05, "altered": 56, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NBEA", "kind": "SNV / small indel", "gene": "NBEA", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.61, "altered": 62, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 7.43, "altered": 46, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NBEA", "kind": "amplification", "gene": "NBEA", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.87, "altered": 17, "tested": 592, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "coadread_dfci_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "crc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1099, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.61, "altered": 62, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 12.28, "altered": 76, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 9.55, "altered": 105, "tested": 1099, "note": null}]}, {"label": "COL12A1", "kind": "SNV / small indel", "gene": "COL12A1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.61, "altered": 62, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 8.56, "altered": 53, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MDN1", "kind": "SNV / small indel", "gene": "MDN1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.42, "altered": 61, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 12.44, "altered": 77, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "BLTP1", "kind": "SNV / small indel", "gene": "BLTP1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.24, "altered": 60, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 9.21, "altered": 57, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "VPS13B", "kind": "SNV / small indel", "gene": "VPS13B", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.05, "altered": 59, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 9.21, "altered": 57, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "VPS13B", "kind": "amplification", "gene": "VPS13B", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.87, "altered": 17, "tested": 592, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "coadread_dfci_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "crc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1099, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "TRPS1", "kind": "SNV / small indel", "gene": "TRPS1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 11.05, "altered": 59, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 9.05, "altered": 56, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TRPS1", "kind": "amplification", "gene": "TRPS1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.38, "altered": 20, "tested": 592, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "coadread_dfci_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "crc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1099, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "UNC13C", "kind": "SNV / small indel", "gene": "UNC13C", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.86, "altered": 58, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 6.62, "altered": 41, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "TCF7L2", "kind": "SNV / small indel", "gene": "TCF7L2", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.86, "altered": 58, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 6.95, "altered": 43, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 13.56, "altered": 122, "tested": 900, "note": null}]}, {"label": "PCDH17", "kind": "SNV / small indel", "gene": "PCDH17", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.86, "altered": 58, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 12.76, "altered": 79, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "KMT2B", "kind": "SNV / small indel", "gene": "KMT2B", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.86, "altered": 58, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 6.79, "altered": 42, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 11.11, "altered": 1, "tested": 9, "note": null}]}, {"label": "ROBO2", "kind": "SNV / small indel", "gene": "ROBO2", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.67, "altered": 57, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 7.75, "altered": 48, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "HECW1", "kind": "SNV / small indel", "gene": "HECW1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.67, "altered": 57, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 8.4, "altered": 52, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "ARID1A", "kind": "SNV / small indel", "gene": "ARID1A", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.67, "altered": 57, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 10.82, "altered": 67, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 9.46, "altered": 104, "tested": 1099, "note": null}]}, {"label": "PTPRT", "kind": "SNV / small indel", "gene": "PTPRT", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.49, "altered": 56, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 8.4, "altered": 52, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 6.92, "altered": 76, "tested": 1099, "note": null}]}, {"label": "PTPRT", "kind": "amplification", "gene": "PTPRT", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 7.43, "altered": 44, "tested": 592, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "coadread_dfci_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 2.73, "altered": 30, "tested": 1099, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PKHD1", "kind": "SNV / small indel", "gene": "PKHD1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.49, "altered": 56, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 9.37, "altered": 58, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "MYCBP2", "kind": "SNV / small indel", "gene": "MYCBP2", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.49, "altered": 56, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 8.72, "altered": 54, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FREM2", "kind": "SNV / small indel", "gene": "FREM2", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.49, "altered": 56, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 9.37, "altered": 58, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FREM2", "kind": "amplification", "gene": "FREM2", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 3.04, "altered": 18, "tested": 592, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "coadread_dfci_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "crc_msk_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 1099, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "FAT2", "kind": "SNV / small indel", "gene": "FAT2", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.49, "altered": 56, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 12.28, "altered": 76, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "FAT1", "kind": "SNV / small indel", "gene": "FAT1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.49, "altered": 56, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 10.5, "altered": 65, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 7.01, "altered": 77, "tested": 1099, "note": null}]}, {"label": "FAT1", "kind": "deep deletion", "gene": "FAT1", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 2.36, "altered": 14, "tested": 592, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "coadread_dfci_2016", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "No copy-number profile is connected for this cohort."}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 1.09, "altered": 12, "tested": 1099, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "EYS", "kind": "SNV / small indel", "gene": "EYS", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.49, "altered": 56, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 1.94, "altered": 12, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RNF213", "kind": "SNV / small indel", "gene": "RNF213", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.3, "altered": 55, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 12.76, "altered": 79, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "RELN", "kind": "SNV / small indel", "gene": "RELN", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.3, "altered": 55, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 8.89, "altered": 55, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "coadread_tcga_pan_can_atlas_2018", "status": "observed", "frequency": 10.3, "altered": 55, "tested": 534, "note": null}, {"cohort": "coadread_dfci_2016", "status": "observed", "frequency": 14.05, "altered": 87, "tested": 619, "note": null}, {"cohort": "crc_msk_2017", "status": "observed", "frequency": 6.1, "altered": 67, "tested": 1099, "note": null}]}]}