Neoplasm of Uncertain Histogenesis — Genomics

Neoplasm of Uncertain Histogenesis — Genomics · CancerIndex

Genomics

Gene alteration frequencies by cohort

465 cohorts mapped to this entity or its descendants. Each frequency is affected / profiled within one cohort; cohorts are shown separately because case selection, sequencing depth and definitions differ. By default the cohort with the most cases profiled is shown.

Acinar Cell Carcinoma of the Pancreas (JHU, J Pathol 2014) paac_jhu_2014JHU

23 cases with simple somatic mutation data · 23 cases total · 2026-01-12 · mapped to Pancreatic Acinar Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SMAD4

Cohorts mapped to a descendant (e.g. a subtype) are included because their cases belong to this entity by definition; the mapping and its match type are shown per cohort.

Acral Melanoma (TGEN, Genome Res 2017) mel_tsam_liang_2017TGEN

38 cases with simple somatic mutation data · 38 cases total · 2026-01-08 · mapped to Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	11	38	28.9%	cbioportal
2	MUC16	Ssm	10	38	26.3%	cbioportal
3	FLG	Ssm	9	38	23.7%	cbioportal
4	AHNAK2	Ssm	8	38	21.1%	cbioportal
5	FCGBP	Ssm	8	38	21.1%	cbioportal
6	USP8	Ssm	8	38	21.1%	cbioportal
13	PABPC1	Ssm	7	38	18.4%	cbioportal
8	CSMD1	Ssm	7	38	18.4%	cbioportal
14	XIRP2	Ssm	7	38	18.4%	cbioportal
7	BRAF	Ssm	7	38	18.4%	cbioportal
9	FMN2	Ssm	7	38	18.4%	cbioportal
10	HLA-B	Ssm	7	38	18.4%	cbioportal
11	HLA-DRB5	Ssm	7	38	18.4%	cbioportal
12	MUC17	Ssm	7	38	18.4%	cbioportal
17	HLA-A	Ssm	6	38	15.8%	cbioportal
22	ZP4	Ssm	6	38	15.8%	cbioportal
21	OBSCN	Ssm	6	38	15.8%	cbioportal
20	MYCBP2	Ssm	6	38	15.8%	cbioportal
19	MUC6	Ssm	6	38	15.8%	cbioportal
18	IGFN1	Ssm	6	38	15.8%	cbioportal
16	FBN3	Ssm	6	38	15.8%	cbioportal
15	ASPM	Ssm	6	38	15.8%	cbioportal
29	DNAH5	Ssm	5	38	13.2%	cbioportal
23	ABCA13	Ssm	5	38	13.2%	cbioportal
24	ABCA7	Ssm	5	38	13.2%	cbioportal
25	ANKRD30B	Ssm	5	38	13.2%	cbioportal
26	CCDC171	Ssm	5	38	13.2%	cbioportal
27	CFTR	Ssm	5	38	13.2%	cbioportal
28	CYP2A6	Ssm	5	38	13.2%	cbioportal
30	DNAH9	Ssm	5	38	13.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Acute Leukemias of Ambiguous Lineage (TARGET GDC, 2025) alal_target_gdcTARGET GDC

123 cases with simple somatic mutation data · 251 cases total · 2026-01-14 · mapped to Acute Leukemia of Ambiguous Lineage EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	WT1	Ssm	20	123	16.3%	cbioportal
2	NRAS	Ssm	14	123	11.4%	cbioportal
3	RUNX1	Ssm	10	123	8.1%	cbioportal
5	PTPN11	Ssm	8	123	6.5%	cbioportal
4	KMT2D	Ssm	8	123	6.5%	cbioportal
7	JAK3	Ssm	7	123	5.7%	cbioportal
6	FLT3	Ssm	7	123	5.7%	cbioportal
12	SETD2	Ssm	6	123	4.9%	cbioportal
10	MUC4	Ssm	6	123	4.9%	cbioportal
9	LRP1	Ssm	6	123	4.9%	cbioportal
8	CREBBP	Ssm	6	123	4.9%	cbioportal
11	NOTCH1	Ssm	6	123	4.9%	cbioportal
18	USP9X	Ssm	5	123	4.1%	cbioportal
17	TTN	Ssm	5	123	4.1%	cbioportal
16	TNRC18	Ssm	5	123	4.1%	cbioportal
15	HMCN2	Ssm	5	123	4.1%	cbioportal
14	DDX3X	Ssm	5	123	4.1%	cbioportal
13	ASXL1	Ssm	5	123	4.1%	cbioportal
19	VSTM2A	Ssm	5	123	4.1%	cbioportal
24	GALNT9	Ssm	4	123	3.3%	cbioportal
30	NDST1	Ssm	4	123	3.3%	cbioportal
29	MACF1	Ssm	4	123	3.3%	cbioportal
28	LONRF3	Ssm	4	123	3.3%	cbioportal
27	HYDIN	Ssm	4	123	3.3%	cbioportal
26	HEATR5B	Ssm	4	123	3.3%	cbioportal
25	HDX	Ssm	4	123	3.3%	cbioportal
23	FCN2	Ssm	4	123	3.3%	cbioportal
22	FAM186A	Ssm	4	123	3.3%	cbioportal
21	DDX17	Ssm	4	123	3.3%	cbioportal
20	CNTNAP2	Ssm	4	123	3.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Acute Lymphoblastic Leukemia - Phase II TARGET-ALL-P2TARGET

768 cases with simple somatic mutation data · 1,587 cases total · Data Release 46.0 · mapped to Acute Lymphoblastic Leukemia ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PRSS1	Ssm	219	768	28.5%	gdc
2	PRSS2	Ssm	218	768	28.4%	gdc
3	MTRNR2L6	Ssm	209	768	27.2%	gdc
4	CDKN2A	Ssm	209	768	27.2%	gdc
5	CDKN2B	Ssm	183	768	23.8%	gdc
6	AL359922.1	Ssm	183	768	23.8%	gdc
7	MTAP	Ssm	170	768	22.1%	gdc
8	NOTCH1	Ssm	163	768	21.2%	gdc
9	DMRTA1	Ssm	126	768	16.4%	gdc
10	IFNE	Ssm	111	768	14.5%	gdc
11	IFNA8	Ssm	108	768	14.1%	gdc
12	IFNA1	Ssm	108	768	14.1%	gdc
14	IFNA6	Ssm	106	768	13.8%	gdc
13	IFNA2	Ssm	106	768	13.8%	gdc
15	IFNA13	Ssm	105	768	13.7%	gdc
16	KLHL9	Ssm	103	768	13.4%	gdc
17	IFNA5	Ssm	103	768	13.4%	gdc
18	IFNA17	Ssm	99	768	12.9%	gdc
19	IFNA16	Ssm	99	768	12.9%	gdc
22	IFNA14	Ssm	98	768	12.8%	gdc
20	IFNA10	Ssm	98	768	12.8%	gdc
21	IFNA7	Ssm	98	768	12.8%	gdc
23	KRAS	Ssm	97	768	12.6%	gdc
24	IFNA4	Ssm	96	768	12.5%	gdc
25	IFNA21	Ssm	95	768	12.4%	gdc
26	IFNW1	Ssm	93	768	12.1%	gdc
27	IFNB1	Ssm	90	768	11.7%	gdc
28	HACD4	Ssm	86	768	11.2%	gdc
29	NRAS	Ssm	85	768	11.1%	gdc
30	ELAVL2	Ssm	77	768	10%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Acute Lymphoblastic Leukemia - Phase III TARGET-ALL-P3TARGET

108 cases with simple somatic mutation data · 191 cases total · Data Release 46.0 · mapped to Acute Lymphoblastic Leukemia ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	WT1	Ssm	9	108	8.3%	gdc
2	NRAS	Ssm	7	108	6.5%	gdc
3	CREBBP	Ssm	4	108	3.7%	gdc
4	RUNX1	Ssm	4	108	3.7%	gdc
5	MUC4	Ssm	4	108	3.7%	gdc
6	JAK3	Ssm	4	108	3.7%	gdc
7	LRP1	Ssm	3	108	2.8%	gdc
8	NSD2	Ssm	3	108	2.8%	gdc
9	XIRP2	Ssm	3	108	2.8%	gdc
10	SETD2	Ssm	3	108	2.8%	gdc
11	SVEP1	Ssm	3	108	2.8%	gdc
12	CEP295	Ssm	3	108	2.8%	gdc
13	OBSCN	Ssm	3	108	2.8%	gdc
14	GALNT9	Ssm	3	108	2.8%	gdc
15	DDX3X	Ssm	3	108	2.8%	gdc
16	PTPN11	Ssm	3	108	2.8%	gdc
17	AASDH	Ssm	2	108	1.9%	gdc
18	MRPL39	Ssm	2	108	1.9%	gdc
19	PPIL4	Ssm	2	108	1.9%	gdc
20	DYSF	Ssm	2	108	1.9%	gdc
21	HGS	Ssm	2	108	1.9%	gdc
22	SEC23IP	Ssm	2	108	1.9%	gdc
23	DST	Ssm	2	108	1.9%	gdc
24	DRC7	Ssm	2	108	1.9%	gdc
25	HMCN2	Ssm	2	108	1.9%	gdc
26	ASXL1	Ssm	2	108	1.9%	gdc
27	VPS13C	Ssm	2	108	1.9%	gdc
28	SEL1L	Ssm	2	108	1.9%	gdc
29	FAT1	Ssm	2	108	1.9%	gdc
30	PCDHGA3	Ssm	2	108	1.9%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2015) all_stjude_2015St Jude

93 cases with simple somatic mutation data · 93 cases total · 2026-01-05 · mapped to B Lymphoblastic Leukemia/Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	12	93	12.9%	cbioportal
2	NRAS	Ssm	8	93	8.6%	cbioportal
3	FLT3	Ssm	5	93	5.4%	cbioportal
4	PAX5	Ssm	4	93	4.3%	cbioportal
5	PIK3CA	Ssm	4	93	4.3%	cbioportal
6	NEB	Ssm	3	93	3.2%	cbioportal
7	PIK3R1	Ssm	3	93	3.2%	cbioportal
8	CHD7	Ssm	2	93	2.2%	cbioportal
9	DNHD1	Ssm	2	93	2.2%	cbioportal
10	FGF5	Ssm	2	93	2.2%	cbioportal
11	PDGFRB	Ssm	2	93	2.2%	cbioportal
12	SLCO3A1	Ssm	2	93	2.2%	cbioportal
13	TP53	Ssm	2	93	2.2%	cbioportal
14	TTLL4	Ssm	2	93	2.2%	cbioportal
15	AXL	Ssm	1	93	1.1%	cbioportal
16	BMAL2	Ssm	1	93	1.1%	cbioportal
17	CREBBP	Ssm	1	93	1.1%	cbioportal
18	DDX10	Ssm	1	93	1.1%	cbioportal
19	ERCC2	Ssm	1	93	1.1%	cbioportal
20	ERCC3	Ssm	1	93	1.1%	cbioportal
21	EZH2	Ssm	1	93	1.1%	cbioportal
22	IGSF9	Ssm	1	93	1.1%	cbioportal
23	JAG1	Ssm	1	93	1.1%	cbioportal
24	MED12	Ssm	1	93	1.1%	cbioportal
25	NF1	Ssm	1	93	1.1%	cbioportal
26	NSD2	Ssm	1	93	1.1%	cbioportal
27	PCDH19	Ssm	1	93	1.1%	cbioportal
28	PCDHGA5	Ssm	1	93	1.1%	cbioportal
29	PDE4B	Ssm	1	93	1.1%	cbioportal
30	PLXNA2	Ssm	1	93	1.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Acute Lymphoblastic Leukemia (St Jude, Nat Genet 2016) all_stjude_2016St Jude

73 cases with simple somatic mutation data · 73 cases total · 2026-01-05 · mapped to B Lymphoblastic Leukemia/Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NRAS	Ssm	18	73	24.7%	cbioportal
2	KMT2D	Ssm	14	73	19.2%	cbioportal
3	SETD2	Ssm	10	73	13.7%	cbioportal
4	TBL1XR1	Ssm	8	73	11%	cbioportal
5	ZFP36L2	Ssm	6	73	8.2%	cbioportal
6	KRAS	Ssm	5	73	6.8%	cbioportal
7	NCOR1	Ssm	5	73	6.8%	cbioportal
8	ZEB2	Ssm	5	73	6.8%	cbioportal
9	PAX5	Ssm	4	73	5.5%	cbioportal
10	PTPN11	Ssm	4	73	5.5%	cbioportal
11	TP53	Ssm	4	73	5.5%	cbioportal
15	MED12	Ssm	3	73	4.1%	cbioportal
19	TTN	Ssm	3	73	4.1%	cbioportal
18	PIK3R1	Ssm	3	73	4.1%	cbioportal
17	MYCBP2	Ssm	3	73	4.1%	cbioportal
16	MYC	Ssm	3	73	4.1%	cbioportal
14	KDM6A	Ssm	3	73	4.1%	cbioportal
13	ERG	Ssm	3	73	4.1%	cbioportal
12	CTCF	Ssm	3	73	4.1%	cbioportal
27	EHMT2	Ssm	2	73	2.7%	cbioportal
26	EGFR	Ssm	2	73	2.7%	cbioportal
25	DNAH9	Ssm	2	73	2.7%	cbioportal
24	DACT2	Ssm	2	73	2.7%	cbioportal
23	CCN3	Ssm	2	73	2.7%	cbioportal
22	BRWD1	Ssm	2	73	2.7%	cbioportal
21	ADGRV1	Ssm	2	73	2.7%	cbioportal
20	ABCC8	Ssm	2	73	2.7%	cbioportal
30	FNDC1	Ssm	2	73	2.7%	cbioportal
29	FLT3	Ssm	2	73	2.7%	cbioportal
28	ETV6	Ssm	2	73	2.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Acute Myeloid Leukemia TCGA-LAMLTCGA

200 cases with simple somatic mutation data · 200 cases total · Data Release 46.0 · mapped to Acute Myeloid Leukemia CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VIPR2	Ssm	29	200	14.5%	gdc
2	ZNF16	Ssm	27	200	13.5%	gdc
6	ZNF250	Ssm	27	200	13.5%	gdc
10	C8orf33	Ssm	27	200	13.5%	gdc
7	COMMD5	Ssm	27	200	13.5%	gdc
9	ZNF517	Ssm	27	200	13.5%	gdc
5	RPL8	Ssm	27	200	13.5%	gdc
3	DLGAP2	Ssm	27	200	13.5%	gdc
8	ZNF7	Ssm	27	200	13.5%	gdc
4	MYC	Ssm	27	200	13.5%	gdc
16	ZNF783	Ssm	26	200	13%	gdc
30	TG	Ssm	26	200	13%	gdc
29	LYPD2	Ssm	26	200	13%	gdc
28	LY6K	Ssm	26	200	13%	gdc
27	PUF60	Ssm	26	200	13%	gdc
26	PSCA	Ssm	26	200	13%	gdc
25	THEM6	Ssm	26	200	13%	gdc
24	TDRP	Ssm	26	200	13%	gdc
23	ZNF596	Ssm	26	200	13%	gdc
22	CYC1	Ssm	26	200	13%	gdc
21	ERICH1	Ssm	26	200	13%	gdc
20	LYNX1-SLURP2	Ssm	26	200	13%	gdc
19	SLURP2	Ssm	26	200	13%	gdc
18	TRPV5	Ssm	26	200	13%	gdc
17	LYNX1	Ssm	26	200	13%	gdc
15	FBXO25	Ssm	26	200	13%	gdc
14	SLURP1	Ssm	26	200	13%	gdc
13	DYNC2I1	Ssm	26	200	13%	gdc
12	OR4F21	Ssm	26	200	13%	gdc
11	COL22A1	Ssm	26	200	13%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Acute Myeloid Leukemia TARGET-AMLTARGET

836 cases with simple somatic mutation data · 2,492 cases total · Data Release 46.0 · mapped to Acute Myeloid Leukemia CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	POTEG	Ssm	16	836	1.9%	gdc
2	OR4K2	Ssm	15	836	1.8%	gdc
4	OR4Q3	Ssm	15	836	1.8%	gdc
3	OR4M1	Ssm	15	836	1.8%	gdc
11	OR4N2	Ssm	15	836	1.8%	gdc
10	OR4K5	Ssm	15	836	1.8%	gdc
9	OR11H12	Ssm	15	836	1.8%	gdc
8	DOC2B	Ssm	15	836	1.8%	gdc
7	POTEM	Ssm	15	836	1.8%	gdc
6	OR4K1	Ssm	15	836	1.8%	gdc
5	OR11H2	Ssm	15	836	1.8%	gdc
12	LCE3C	Ssm	14	836	1.7%	gdc
13	LCE3B	Ssm	13	836	1.6%	gdc
16	FRG2	Ssm	12	836	1.4%	gdc
15	MBNL1	Ssm	12	836	1.4%	gdc
14	FRG1	Ssm	12	836	1.4%	gdc
21	LYN	Ssm	10	836	1.2%	gdc
20	AC013394.1	Ssm	10	836	1.2%	gdc
17	ZEB2	Ssm	10	836	1.2%	gdc
19	CHD2	Ssm	10	836	1.2%	gdc
18	DUSP10	Ssm	10	836	1.2%	gdc
27	TDRP	Ssm	9	836	1.1%	gdc
30	JARID2	Ssm	9	836	1.1%	gdc
29	PTPRC	Ssm	9	836	1.1%	gdc
24	KANSL1	Ssm	9	836	1.1%	gdc
25	RAB2A	Ssm	9	836	1.1%	gdc
26	ZNF596	Ssm	9	836	1.1%	gdc
28	CD44	Ssm	9	836	1.1%	gdc
22	OR4F21	Ssm	9	836	1.1%	gdc
23	FBXO25	Ssm	9	836	1.1%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Acute Myeloid Leukemia (OHSU, Cancer Cell 2022) aml_ohsu_2022OHSU

903 cases with simple somatic mutation data · 942 cases total · 2026-01-16 · mapped to Acute Myeloid Leukemia EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	FLT3	Ssm	278	903	30.8%	cbioportal
2	NPM1	Ssm	233	903	25.8%	cbioportal
3	DNMT3A	Ssm	197	903	21.8%	cbioportal
4	NRAS	Ssm	119	903	13.2%	cbioportal
5	TET2	Ssm	118	903	13.1%	cbioportal
6	IDH2	Ssm	111	903	12.3%	cbioportal
7	SRSF2	Ssm	109	903	12.1%	cbioportal
8	RUNX1	Ssm	108	903	12%	cbioportal
9	ASXL1	Ssm	93	903	10.3%	cbioportal
10	TP53	Ssm	82	903	9.1%	cbioportal
11	WT1	Ssm	72	903	8%	cbioportal
12	IDH1	Ssm	71	903	7.9%	cbioportal
13	STAG2	Ssm	60	903	6.6%	cbioportal
14	SF3B1	Ssm	49	903	5.4%	cbioportal
15	BCOR	Ssm	48	903	5.3%	cbioportal
16	CEBPA	Ssm	45	903	5%	cbioportal
17	U2AF1	Ssm	45	903	5%	cbioportal
18	PTPN11	Ssm	44	903	4.9%	cbioportal
19	KRAS	Ssm	43	903	4.8%	cbioportal
20	GATA2	Ssm	37	903	4.1%	cbioportal
21	JAK2	Ssm	36	903	4%	cbioportal
22	PDS5B	Ssm	32	903	3.5%	cbioportal
23	EZH2	Ssm	28	903	3.1%	cbioportal
24	PHF6	Ssm	26	903	2.9%	cbioportal
25	NF1	Ssm	25	903	2.8%	cbioportal
26	RAD21	Ssm	20	903	2.2%	cbioportal
27	CBL	Ssm	19	903	2.1%	cbioportal
29	KIT	Ssm	18	903	2%	cbioportal
28	BCORL1	Ssm	18	903	2%	cbioportal
30	ZRSR2	Ssm	14	903	1.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Acute Myeloid Leukemia (OHSU, Nature 2018) aml_ohsu_2018OHSU

622 cases with simple somatic mutation data · 672 cases total · 2026-01-05 · mapped to Acute Myeloid Leukemia EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	FLT3	Ssm	179	622	28.8%	cbioportal
2	DNMT3A	Ssm	139	622	22.3%	cbioportal
3	NPM1	Ssm	135	622	21.7%	cbioportal
4	NRAS	Ssm	77	622	12.4%	cbioportal
5	TET2	Ssm	76	622	12.2%	cbioportal
7	RUNX1	Ssm	74	622	11.9%	cbioportal
6	IDH2	Ssm	74	622	11.9%	cbioportal
8	SRSF2	Ssm	71	622	11.4%	cbioportal
9	WT1	Ssm	56	622	9%	cbioportal
10	IDH1	Ssm	54	622	8.7%	cbioportal
11	TP53	Ssm	54	622	8.7%	cbioportal
12	ASXL1	Ssm	49	622	7.9%	cbioportal
13	BCOR	Ssm	34	622	5.5%	cbioportal
14	CEBPA	Ssm	33	622	5.3%	cbioportal
15	STAG2	Ssm	33	622	5.3%	cbioportal
16	SF3B1	Ssm	32	622	5.1%	cbioportal
17	PTPN11	Ssm	29	622	4.7%	cbioportal
18	U2AF1	Ssm	29	622	4.7%	cbioportal
19	JAK2	Ssm	28	622	4.5%	cbioportal
20	KRAS	Ssm	25	622	4%	cbioportal
21	EZH2	Ssm	22	622	3.5%	cbioportal
22	GATA2	Ssm	22	622	3.5%	cbioportal
23	PHF6	Ssm	18	622	2.9%	cbioportal
24	RAD21	Ssm	16	622	2.6%	cbioportal
25	PDS5B	Ssm	14	622	2.3%	cbioportal
27	CBL	Ssm	12	622	1.9%	cbioportal
28	ZRSR2	Ssm	12	622	1.9%	cbioportal
26	BCORL1	Ssm	12	622	1.9%	cbioportal
30	KIT	Ssm	11	622	1.8%	cbioportal
29	CSF3R	Ssm	11	622	1.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Acute Myeloid Leukemia (TARGET GDC, 2025) aml_target_gdcTARGET GDC

584 cases with simple somatic mutation data · 2,766 cases total · 2026-01-14 · mapped to Acute Myeloid Leukemia EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NRAS	Ssm	142	584	24.3%	cbioportal
2	WT1	Ssm	70	584	12%	cbioportal
4	KIT	Ssm	65	584	11.1%	cbioportal
3	FLT3	Ssm	65	584	11.1%	cbioportal
5	NPM1	Ssm	64	584	11%	cbioportal
6	KRAS	Ssm	61	584	10.4%	cbioportal
7	CEBPA	Ssm	37	584	6.3%	cbioportal
8	PTPN11	Ssm	30	584	5.1%	cbioportal
9	TET2	Ssm	28	584	4.8%	cbioportal
10	GATA2	Ssm	25	584	4.3%	cbioportal
11	ASXL2	Ssm	21	584	3.6%	cbioportal
12	SETD2	Ssm	21	584	3.6%	cbioportal
13	RUNX1	Ssm	15	584	2.6%	cbioportal
16	IKZF1	Ssm	14	584	2.4%	cbioportal
14	ETV6	Ssm	14	584	2.4%	cbioportal
15	EZH2	Ssm	14	584	2.4%	cbioportal
18	IDH2	Ssm	13	584	2.2%	cbioportal
17	BCOR	Ssm	13	584	2.2%	cbioportal
19	MYC	Ssm	12	584	2.1%	cbioportal
20	RAD21	Ssm	12	584	2.1%	cbioportal
21	SMC3	Ssm	12	584	2.1%	cbioportal
22	STAG2	Ssm	12	584	2.1%	cbioportal
24	CCND3	Ssm	11	584	1.9%	cbioportal
25	PHF6	Ssm	11	584	1.9%	cbioportal
23	CBL	Ssm	11	584	1.9%	cbioportal
26	CSF3R	Ssm	10	584	1.7%	cbioportal
29	TRIM24	Ssm	10	584	1.7%	cbioportal
28	SRCAP	Ssm	10	584	1.7%	cbioportal
27	NF1	Ssm	10	584	1.7%	cbioportal
30	FAT1	Ssm	9	584	1.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Acute Myeloid Leukemia (TCGA, Firehose Legacy) laml_tcgaTCGA

197 cases with simple somatic mutation data · 200 cases total · 2026-01-07 · mapped to Acute Myeloid Leukemia EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	FLT3	Ssm	56	197	28.4%	cbioportal
2	NPM1	Ssm	54	197	27.4%	cbioportal
3	DNMT3A	Ssm	51	197	25.9%	cbioportal
4	IDH2	Ssm	20	197	10.2%	cbioportal
5	IDH1	Ssm	19	197	9.6%	cbioportal
6	RUNX1	Ssm	18	197	9.1%	cbioportal
7	TET2	Ssm	17	197	8.6%	cbioportal
8	TP53	Ssm	16	197	8.1%	cbioportal
9	NRAS	Ssm	15	197	7.6%	cbioportal
10	CEBPA	Ssm	13	197	6.6%	cbioportal
11	WT1	Ssm	12	197	6.1%	cbioportal
12	PTPN11	Ssm	9	197	4.6%	cbioportal
14	KRAS	Ssm	8	197	4.1%	cbioportal
15	U2AF1	Ssm	8	197	4.1%	cbioportal
13	KIT	Ssm	8	197	4.1%	cbioportal
16	SMC1A	Ssm	7	197	3.6%	cbioportal
17	SMC3	Ssm	7	197	3.6%	cbioportal
18	PHF6	Ssm	6	197	3%	cbioportal
19	STAG2	Ssm	6	197	3%	cbioportal
20	TTN	Ssm	6	197	3%	cbioportal
21	ASXL1	Ssm	5	197	2.5%	cbioportal
22	BRINP3	Ssm	5	197	2.5%	cbioportal
23	RAD21	Ssm	5	197	2.5%	cbioportal
24	PLCE1	Ssm	4	197	2%	cbioportal
26	CACNA1E	Ssm	3	197	1.5%	cbioportal
30	DIS3	Ssm	3	197	1.5%	cbioportal
25	CACNA1B	Ssm	3	197	1.5%	cbioportal
29	CSMD1	Ssm	3	197	1.5%	cbioportal
28	CROCC	Ssm	3	197	1.5%	cbioportal
27	COL12A1	Ssm	3	197	1.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Acute Myeloid Leukemia (TCGA GDC, 2025) aml_tcga_gdcTCGA GDC

72 cases with simple somatic mutation data · 200 cases total · 2026-01-13 · mapped to Acute Myeloid Leukemia EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NPM1	Ssm	8	72	11.1%	cbioportal
4	TP53	Ssm	5	72	6.9%	cbioportal
3	IDH2	Ssm	5	72	6.9%	cbioportal
2	DNMT3A	Ssm	5	72	6.9%	cbioportal
5	RUNX1	Ssm	4	72	5.6%	cbioportal
9	KRAS	Ssm	3	72	4.2%	cbioportal
10	TTN	Ssm	3	72	4.2%	cbioportal
7	ELF4	Ssm	3	72	4.2%	cbioportal
8	FLT3	Ssm	3	72	4.2%	cbioportal
6	ASXL1	Ssm	3	72	4.2%	cbioportal
19	KIT	Ssm	2	72	2.8%	cbioportal
18	ITPR3	Ssm	2	72	2.8%	cbioportal
17	DNAH11	Ssm	2	72	2.8%	cbioportal
16	CUL1	Ssm	2	72	2.8%	cbioportal
25	STRIP2	Ssm	2	72	2.8%	cbioportal
24	SCAF8	Ssm	2	72	2.8%	cbioportal
20	NF1	Ssm	2	72	2.8%	cbioportal
15	CEBPA	Ssm	2	72	2.8%	cbioportal
23	PTPN11	Ssm	2	72	2.8%	cbioportal
11	ASXL3	Ssm	2	72	2.8%	cbioportal
12	BCORL1	Ssm	2	72	2.8%	cbioportal
13	BSN	Ssm	2	72	2.8%	cbioportal
14	CALR	Ssm	2	72	2.8%	cbioportal
22	PHF6	Ssm	2	72	2.8%	cbioportal
21	NR2E1	Ssm	2	72	2.8%	cbioportal
60	BMPER	Ssm	1	72	1.4%	cbioportal
62	BTD	Ssm	1	72	1.4%	cbioportal
63	C4BPB	Ssm	1	72	1.4%	cbioportal
64	CACNA1E	Ssm	1	72	1.4%	cbioportal
61	BRINP3	Ssm	1	72	1.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Acute Myeloid Leukemia (TCGA, NEJM 2013) laml_tcga_pubTCGA

200 cases with simple somatic mutation data · 200 cases total · 2026-01-07 · mapped to Acute Myeloid Leukemia EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	FLT3	Ssm	56	200	28%	cbioportal
2	NPM1	Ssm	54	200	27%	cbioportal
3	DNMT3A	Ssm	49	200	24.5%	cbioportal
4	IDH2	Ssm	20	200	10%	cbioportal
5	IDH1	Ssm	19	200	9.5%	cbioportal
6	RUNX1	Ssm	17	200	8.5%	cbioportal
7	TET2	Ssm	17	200	8.5%	cbioportal
8	TP53	Ssm	16	200	8%	cbioportal
9	NRAS	Ssm	15	200	7.5%	cbioportal
10	CEBPA	Ssm	13	200	6.5%	cbioportal
11	WT1	Ssm	12	200	6%	cbioportal
12	PTPN11	Ssm	9	200	4.5%	cbioportal
13	KIT	Ssm	8	200	4%	cbioportal
14	KRAS	Ssm	8	200	4%	cbioportal
15	U2AF1	Ssm	8	200	4%	cbioportal
17	SMC3	Ssm	7	200	3.5%	cbioportal
16	SMC1A	Ssm	7	200	3.5%	cbioportal
20	TTN	Ssm	6	200	3%	cbioportal
19	STAG2	Ssm	6	200	3%	cbioportal
18	PHF6	Ssm	6	200	3%	cbioportal
21	ASXL1	Ssm	5	200	2.5%	cbioportal
22	BRINP3	Ssm	5	200	2.5%	cbioportal
24	RAD21	Ssm	4	200	2%	cbioportal
23	PLCE1	Ssm	4	200	2%	cbioportal
28	CROCC	Ssm	3	200	1.5%	cbioportal
29	CSMD1	Ssm	3	200	1.5%	cbioportal
30	DIS3	Ssm	3	200	1.5%	cbioportal
26	CACNA1E	Ssm	3	200	1.5%	cbioportal
25	CACNA1B	Ssm	3	200	1.5%	cbioportal
27	COL12A1	Ssm	3	200	1.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Acute Myeloid Leukemia (TCGA, PanCancer Atlas) laml_tcga_pan_can_atlas_2018TCGA

200 cases with simple somatic mutation data · 200 cases total · 2026-06-05 · mapped to Acute Myeloid Leukemia EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	FLT3	Ssm	59	200	29.5%	cbioportal
2	NPM1	Ssm	54	200	27%	cbioportal
3	DNMT3A	Ssm	50	200	25%	cbioportal
4	IDH2	Ssm	21	200	10.5%	cbioportal
6	RUNX1	Ssm	19	200	9.5%	cbioportal
5	IDH1	Ssm	19	200	9.5%	cbioportal
7	TET2	Ssm	17	200	8.5%	cbioportal
9	TP53	Ssm	16	200	8%	cbioportal
8	NRAS	Ssm	16	200	8%	cbioportal
10	TTN	Ssm	14	200	7%	cbioportal
12	WT1	Ssm	13	200	6.5%	cbioportal
11	CEBPA	Ssm	13	200	6.5%	cbioportal
13	BPIFC	Ssm	11	200	5.5%	cbioportal
15	PTPN11	Ssm	10	200	5%	cbioportal
14	KRAS	Ssm	10	200	5%	cbioportal
16	SMC1A	Ssm	9	200	4.5%	cbioportal
17	KIT	Ssm	8	200	4%	cbioportal
18	MUC16	Ssm	8	200	4%	cbioportal
19	U2AF1	Ssm	8	200	4%	cbioportal
22	PHF6	Ssm	7	200	3.5%	cbioportal
20	ASXL1	Ssm	7	200	3.5%	cbioportal
21	HPS3	Ssm	7	200	3.5%	cbioportal
24	SMC3	Ssm	7	200	3.5%	cbioportal
23	SENP6	Ssm	7	200	3.5%	cbioportal
27	CSMD1	Ssm	6	200	3%	cbioportal
29	FREM2	Ssm	6	200	3%	cbioportal
28	DNAH11	Ssm	6	200	3%	cbioportal
31	GDI2	Ssm	6	200	3%	cbioportal
25	ABCA6	Ssm	6	200	3%	cbioportal
26	BRWD1	Ssm	6	200	3%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Adenoid Cystic Carcinoma (FMI, Am J Surg Pathl. 2014) acyc_fmi_2014FMI

28 cases with simple somatic mutation data · 28 cases total · 2026-01-05 · mapped to Adenoid Cystic Carcinoma EXACT_IDENTIFIER

cbioportalObserved15 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KDM6A	Ssm	5	28	17.9%	cbioportal
2	ARID1A	Ssm	4	28	14.3%	cbioportal
3	NOTCH1	Ssm	3	28	10.7%	cbioportal
4	RUNX1	Ssm	2	28	7.1%	cbioportal
8	CTNNB1	Ssm	1	28	3.6%	cbioportal
9	EGFR	Ssm	1	28	3.6%	cbioportal
10	LTK	Ssm	1	28	3.6%	cbioportal
11	PIK3CA	Ssm	1	28	3.6%	cbioportal
14	SPEN	Ssm	1	28	3.6%	cbioportal
15	TP53	Ssm	1	28	3.6%	cbioportal
5	AKT1	Ssm	1	28	3.6%	cbioportal
12	PKHD1	Ssm	1	28	3.6%	cbioportal
13	RB1	Ssm	1	28	3.6%	cbioportal
7	BRCA2	Ssm	1	28	3.6%	cbioportal
6	BAP1	Ssm	1	28	3.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Adenoid Cystic Carcinoma (JHU, Cancer Prev Res 2016) acyc_jhu_2016JHU

25 cases with simple somatic mutation data · 25 cases total · 2026-01-05 · mapped to Adenoid Cystic Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NOTCH1	Ssm	3	25	12%	cbioportal
8	PLXNB1	Ssm	2	25	8%	cbioportal
6	KMT2C	Ssm	2	25	8%	cbioportal
5	KDM6A	Ssm	2	25	8%	cbioportal
4	KANK4	Ssm	2	25	8%	cbioportal
3	EP300	Ssm	2	25	8%	cbioportal
2	ABCA4	Ssm	2	25	8%	cbioportal
14	ZNF292	Ssm	2	25	8%	cbioportal
13	TTN	Ssm	2	25	8%	cbioportal
12	SF3B1	Ssm	2	25	8%	cbioportal
11	RP1L1	Ssm	2	25	8%	cbioportal
10	RHOA	Ssm	2	25	8%	cbioportal
9	PRKD1	Ssm	2	25	8%	cbioportal
7	KMT2D	Ssm	2	25	8%	cbioportal
17	ACTL6A	Ssm	1	25	4%	cbioportal
15	ABCC5	Ssm	1	25	4%	cbioportal
160	KCNE1	Ssm	1	25	4%	cbioportal
27	AHNAK2	Ssm	1	25	4%	cbioportal
28	AIFM3	Ssm	1	25	4%	cbioportal
29	AJUBA	Ssm	1	25	4%	cbioportal
16	ACTB	Ssm	1	25	4%	cbioportal
25	AFG3L2	Ssm	1	25	4%	cbioportal
26	AGMAT	Ssm	1	25	4%	cbioportal
24	AEBP1	Ssm	1	25	4%	cbioportal
23	ADNP2	Ssm	1	25	4%	cbioportal
22	ADCY1	Ssm	1	25	4%	cbioportal
21	ADAMTS5	Ssm	1	25	4%	cbioportal
20	ADAMTS13	Ssm	1	25	4%	cbioportal
19	ADAM2	Ssm	1	25	4%	cbioportal
18	ACTN2	Ssm	1	25	4%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Adenoid Cystic Carcinoma (MDA, Clin Cancer Res 2015) acyc_mda_2015MDA

65 cases with simple somatic mutation data · 102 cases total · 2026-01-05 · mapped to Adenoid Cystic Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SPEN	Ssm	5	65	7.7%	cbioportal
4	NOTCH1	Ssm	4	65	6.2%	cbioportal
2	CREBBP	Ssm	4	65	6.2%	cbioportal
3	MUC16	Ssm	4	65	6.2%	cbioportal
5	MUC12	Ssm	3	65	4.6%	cbioportal
6	TYW2	Ssm	3	65	4.6%	cbioportal
15	MBD3L1	Ssm	2	65	3.1%	cbioportal
7	ABCA1	Ssm	2	65	3.1%	cbioportal
8	ATN1	Ssm	2	65	3.1%	cbioportal
9	C1ORF167	Ssm	2	65	3.1%	cbioportal
10	CARD14	Ssm	2	65	3.1%	cbioportal
11	CHST8	Ssm	2	65	3.1%	cbioportal
12	CUBN	Ssm	2	65	3.1%	cbioportal
13	IVL	Ssm	2	65	3.1%	cbioportal
14	MAP10	Ssm	2	65	3.1%	cbioportal
16	MIR152	Ssm	2	65	3.1%	cbioportal
17	NMRK1	Ssm	2	65	3.1%	cbioportal
18	OTOF	Ssm	2	65	3.1%	cbioportal
19	RTN4R	Ssm	2	65	3.1%	cbioportal
20	SDK1	Ssm	2	65	3.1%	cbioportal
21	SMARCA2	Ssm	2	65	3.1%	cbioportal
22	TFAP4	Ssm	2	65	3.1%	cbioportal
23	USP34	Ssm	2	65	3.1%	cbioportal
24	VWA5B1	Ssm	2	65	3.1%	cbioportal
25	XKR7	Ssm	2	65	3.1%	cbioportal
26	ZNF880	Ssm	2	65	3.1%	cbioportal
30	ACCS	Ssm	1	65	1.5%	cbioportal
29	ABHD3	Ssm	1	65	1.5%	cbioportal
28	ABCD2	Ssm	1	65	1.5%	cbioportal
27	AAK1	Ssm	1	65	1.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Adenoid Cystic Carcinoma (MGH, Nat Gen 2016) acyc_mgh_2016MGH

10 cases with simple somatic mutation data · 10 cases total · 2026-01-05 · mapped to Adenoid Cystic Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	TTN	Ssm	4	10	40%	cbioportal
1	MUC12	Ssm	4	10	40%	cbioportal
3	ZXDB	Ssm	4	10	40%	cbioportal
16	NOTCH1	Ssm	3	10	30%	cbioportal
23	ZFYVE28	Ssm	3	10	30%	cbioportal
22	WASHC2A	Ssm	3	10	30%	cbioportal
21	TECPR1	Ssm	3	10	30%	cbioportal
20	RGPD4	Ssm	3	10	30%	cbioportal
19	POTEF	Ssm	3	10	30%	cbioportal
18	PLEC	Ssm	3	10	30%	cbioportal
17	OBSCN	Ssm	3	10	30%	cbioportal
15	NANOGNB	Ssm	3	10	30%	cbioportal
14	MEGF6	Ssm	3	10	30%	cbioportal
13	LRP1B	Ssm	3	10	30%	cbioportal
12	LAMC2	Ssm	3	10	30%	cbioportal
11	KDM6A	Ssm	3	10	30%	cbioportal
10	HRNR	Ssm	3	10	30%	cbioportal
9	GOLGA8M	Ssm	3	10	30%	cbioportal
8	FNDC1	Ssm	3	10	30%	cbioportal
7	DAGLA	Ssm	3	10	30%	cbioportal
6	CUL9	Ssm	3	10	30%	cbioportal
5	CREBBP	Ssm	3	10	30%	cbioportal
4	ADGRV1	Ssm	3	10	30%	cbioportal
24	AATK	Ssm	2	10	20%	cbioportal
30	ANKRD36	Ssm	2	10	20%	cbioportal
29	AHDC1	Ssm	2	10	20%	cbioportal
28	ADSS1	Ssm	2	10	20%	cbioportal
27	ADGRL3	Ssm	2	10	20%	cbioportal
26	ADGRL1	Ssm	2	10	20%	cbioportal
25	ABCA8	Ssm	2	10	20%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Adenoid Cystic Carcinoma (MSK, Nat Genet 2013) acyc_mskcc_2013MSK

60 cases with simple somatic mutation data · 60 cases total · 2026-01-05 · mapped to Adenoid Cystic Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	KDM6A	Ssm	4	60	6.7%	cbioportal
1	CREBBP	Ssm	4	60	6.7%	cbioportal
3	RYR3	Ssm	4	60	6.7%	cbioportal
7	SMARCA2	Ssm	3	60	5%	cbioportal
6	PIK3CA	Ssm	3	60	5%	cbioportal
5	NOTCH1	Ssm	3	60	5%	cbioportal
4	MUC16	Ssm	3	60	5%	cbioportal
8	TP53	Ssm	3	60	5%	cbioportal
17	FAT4	Ssm	2	60	3.3%	cbioportal
30	REC8	Ssm	2	60	3.3%	cbioportal
29	PLCZ1	Ssm	2	60	3.3%	cbioportal
28	NT5C3A	Ssm	2	60	3.3%	cbioportal
27	NR1H3	Ssm	2	60	3.3%	cbioportal
26	NFIB	Ssm	2	60	3.3%	cbioportal
25	MUC4	Ssm	2	60	3.3%	cbioportal
24	MGA	Ssm	2	60	3.3%	cbioportal
23	LPAR4	Ssm	2	60	3.3%	cbioportal
22	LAMA3	Ssm	2	60	3.3%	cbioportal
9	ACTB	Ssm	2	60	3.3%	cbioportal
10	ADAM2	Ssm	2	60	3.3%	cbioportal
11	AFF2	Ssm	2	60	3.3%	cbioportal
12	BUB1B	Ssm	2	60	3.3%	cbioportal
13	CHST5	Ssm	2	60	3.3%	cbioportal
14	CMTR2	Ssm	2	60	3.3%	cbioportal
15	DYSF	Ssm	2	60	3.3%	cbioportal
16	ENC1	Ssm	2	60	3.3%	cbioportal
18	FOXP2	Ssm	2	60	3.3%	cbioportal
19	HSPG2	Ssm	2	60	3.3%	cbioportal
20	INSRR	Ssm	2	60	3.3%	cbioportal
21	IRAK1	Ssm	2	60	3.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Adenoid Cystic Carcinoma of the Breast (MSK, J Pathol. 2015) acbc_mskcc_2015MSK

12 cases with simple somatic mutation data · 12 cases total · 2026-08-20 · mapped to Breast Adenoid Cystic Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	MYB	Ssm	2	12	16.7%	cbioportal
3	TLN2	Ssm	2	12	16.7%	cbioportal
1	MUC4	Ssm	2	12	16.7%	cbioportal
114	PTPN7	Ssm	1	12	8.3%	cbioportal
113	PTPN11	Ssm	1	12	8.3%	cbioportal
112	PRKD1	Ssm	1	12	8.3%	cbioportal
111	PMCH	Ssm	1	12	8.3%	cbioportal
107	PDE3A	Ssm	1	12	8.3%	cbioportal
131	SLC25A1	Ssm	1	12	8.3%	cbioportal
132	SLCO2A1	Ssm	1	12	8.3%	cbioportal
110	PLXNB2	Ssm	1	12	8.3%	cbioportal
133	SLIT2	Ssm	1	12	8.3%	cbioportal
120	RNF4	Ssm	1	12	8.3%	cbioportal
116	RALY	Ssm	1	12	8.3%	cbioportal
115	QRICH2	Ssm	1	12	8.3%	cbioportal
127	SKAP2	Ssm	1	12	8.3%	cbioportal
126	SHQ1	Ssm	1	12	8.3%	cbioportal
125	SH3RF3	Ssm	1	12	8.3%	cbioportal
124	SF3B1	Ssm	1	12	8.3%	cbioportal
123	SETD1B	Ssm	1	12	8.3%	cbioportal
122	SEMA5B	Ssm	1	12	8.3%	cbioportal
121	SAA2	Ssm	1	12	8.3%	cbioportal
119	REDIC1	Ssm	1	12	8.3%	cbioportal
118	RBMX	Ssm	1	12	8.3%	cbioportal
117	RASA1	Ssm	1	12	8.3%	cbioportal
108	PGC	Ssm	1	12	8.3%	cbioportal
109	PGF	Ssm	1	12	8.3%	cbioportal
130	SLC19A1	Ssm	1	12	8.3%	cbioportal
129	SLC16A14	Ssm	1	12	8.3%	cbioportal
128	SLAIN2	Ssm	1	12	8.3%	cbioportal

Data updated 22 days agoSource updated 2026-08-20

Adenoid Cystic Carcinoma Project (J Clin Invest 2019) acc_2019

1,049 cases with simple somatic mutation data · 1,049 cases total · 2026-01-05 · mapped to Adenoid Cystic Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NOTCH1	Ssm	232	1,049	22.1%	cbioportal
2	KDM6A	Ssm	138	1,049	13.2%	cbioportal
3	ARID1A	Ssm	120	1,049	11.4%	cbioportal
4	KMT2D	Ssm	111	1,049	10.6%	cbioportal
5	BCOR	Ssm	109	1,049	10.4%	cbioportal
6	KMT2C	Ssm	99	1,049	9.4%	cbioportal
7	CREBBP	Ssm	98	1,049	9.3%	cbioportal
9	TERT	Ssm	82	1,049	7.8%	cbioportal
8	ARID1B	Ssm	82	1,049	7.8%	cbioportal
10	TP53	Ssm	76	1,049	7.2%	cbioportal
11	EP300	Ssm	74	1,049	7.1%	cbioportal
12	RUNX1	Ssm	71	1,049	6.8%	cbioportal
13	SPEN	Ssm	67	1,049	6.4%	cbioportal
14	BRCA2	Ssm	64	1,049	6.1%	cbioportal
15	ATM	Ssm	59	1,049	5.6%	cbioportal
16	FAT1	Ssm	57	1,049	5.4%	cbioportal
17	PIK3CA	Ssm	54	1,049	5.1%	cbioportal
18	LRP1B	Ssm	52	1,049	5%	cbioportal
19	PIK3R1	Ssm	49	1,049	4.7%	cbioportal
20	MED12	Ssm	44	1,049	4.2%	cbioportal
21	NOTCH3	Ssm	44	1,049	4.2%	cbioportal
22	IRS2	Ssm	43	1,049	4.1%	cbioportal
23	TSC2	Ssm	43	1,049	4.1%	cbioportal
24	FAT3	Ssm	41	1,049	3.9%	cbioportal
25	NTRK1	Ssm	40	1,049	3.8%	cbioportal
26	NOTCH2	Ssm	36	1,049	3.4%	cbioportal
27	SPTA1	Ssm	36	1,049	3.4%	cbioportal
28	PARP4	Ssm	35	1,049	3.3%	cbioportal
29	FBXW7	Ssm	33	1,049	3.1%	cbioportal
30	AR	Ssm	32	1,049	3.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Adenoid Cystic Carcinoma (Sanger/MDA, JCI 2013) acyc_sanger_2013Sanger/MDA

24 cases with simple somatic mutation data · 24 cases total · 2026-01-05 · mapped to Adenoid Cystic Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SPEN	Ssm	5	24	20.8%	cbioportal
2	SMARCA2	Ssm	3	24	12.5%	cbioportal
6	FGFR2	Ssm	2	24	8.3%	cbioportal
3	CNTNAP5	Ssm	2	24	8.3%	cbioportal
4	CREBBP	Ssm	2	24	8.3%	cbioportal
5	EP300	Ssm	2	24	8.3%	cbioportal
7	KDM6A	Ssm	2	24	8.3%	cbioportal
8	NOTCH1	Ssm	2	24	8.3%	cbioportal
9	SLC9C2	Ssm	2	24	8.3%	cbioportal
21	ALOX15	Ssm	1	24	4.2%	cbioportal
31	ATP10B	Ssm	1	24	4.2%	cbioportal
30	ATN1	Ssm	1	24	4.2%	cbioportal
29	ATM	Ssm	1	24	4.2%	cbioportal
28	ATIC	Ssm	1	24	4.2%	cbioportal
27	ASCC3	Ssm	1	24	4.2%	cbioportal
26	ARID5B	Ssm	1	24	4.2%	cbioportal
25	ARID1B	Ssm	1	24	4.2%	cbioportal
24	ARID1A	Ssm	1	24	4.2%	cbioportal
22	ANKS4B	Ssm	1	24	4.2%	cbioportal
23	APOA2	Ssm	1	24	4.2%	cbioportal
20	AKAP9	Ssm	1	24	4.2%	cbioportal
19	AGO2	Ssm	1	24	4.2%	cbioportal
18	AFDN	Ssm	1	24	4.2%	cbioportal
17	ADGRL4	Ssm	1	24	4.2%	cbioportal
16	ADCYAP1	Ssm	1	24	4.2%	cbioportal
15	ADAMTSL3	Ssm	1	24	4.2%	cbioportal
14	ADAMTS10	Ssm	1	24	4.2%	cbioportal
13	ADAM20	Ssm	1	24	4.2%	cbioportal
12	ACTB	Ssm	1	24	4.2%	cbioportal
11	ACSL6	Ssm	1	24	4.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Adrenocortical Carcinoma TCGA-ACCTCGA

92 cases with simple somatic mutation data · 92 cases total · Data Release 46.0 · mapped to Adrenal Cortical Carcinoma ALIAS

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	LRP1	Ssm	71	92	77.2%	gdc
6	AVPR1A	Ssm	70	92	76.1%	gdc
5	CAND1	Ssm	70	92	76.1%	gdc
4	NACA	Ssm	70	92	76.1%	gdc
3	BAZ2A	Ssm	70	92	76.1%	gdc
2	HSD17B6	Ssm	70	92	76.1%	gdc
24	AVIL	Ssm	69	92	75%	gdc
7	TSPAN31	Ssm	69	92	75%	gdc
8	AGAP2	Ssm	69	92	75%	gdc
9	CDK4	Ssm	69	92	75%	gdc
10	MARCHF9	Ssm	69	92	75%	gdc
11	AC117378.1	Ssm	69	92	75%	gdc
12	PTGES3	Ssm	69	92	75%	gdc
13	CYP27B1	Ssm	69	92	75%	gdc
14	BIN2	Ssm	69	92	75%	gdc
15	KMT2D	Ssm	69	92	75%	gdc
16	TSFM	Ssm	69	92	75%	gdc
17	OS9	Ssm	69	92	75%	gdc
18	CTDSP2	Ssm	69	92	75%	gdc
19	FRS2	Ssm	69	92	75%	gdc
20	EEF1AKMT3	Ssm	69	92	75%	gdc
21	ATP23	Ssm	69	92	75%	gdc
22	ATP5F1B	Ssm	69	92	75%	gdc
23	PRIM1	Ssm	69	92	75%	gdc
25	RBMS2	Ssm	69	92	75%	gdc
26	IL22	Ssm	69	92	75%	gdc
27	METTL1	Ssm	69	92	75%	gdc
28	ZBTB39	Ssm	69	92	75%	gdc
29	DYRK2	Ssm	69	92	75%	gdc
30	STAT6	Ssm	69	92	75%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Adrenocortical Carcinoma (TCGA, Firehose Legacy) acc_tcgaTCGA

90 cases with simple somatic mutation data · 92 cases total · 2026-01-05 · mapped to Adrenal Cortical Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ZFPM1	Ssm	47	90	52.2%	cbioportal
2	MUC5B	Ssm	35	90	38.9%	cbioportal
3	GARS1	Ssm	34	90	37.8%	cbioportal
4	ZNF517	Ssm	33	90	36.7%	cbioportal
5	LRIG1	Ssm	31	90	34.4%	cbioportal
6	MUC2	Ssm	28	90	31.1%	cbioportal
7	LACTB	Ssm	27	90	30%	cbioportal
8	OBSCN	Ssm	27	90	30%	cbioportal
9	CCDC102A	Ssm	26	90	28.9%	cbioportal
10	OPRD1	Ssm	26	90	28.9%	cbioportal
11	SOWAHA	Ssm	26	90	28.9%	cbioportal
12	TOR3A	Ssm	25	90	27.8%	cbioportal
13	USP42	Ssm	25	90	27.8%	cbioportal
16	ZNF787	Ssm	24	90	26.7%	cbioportal
14	CRIPAK	Ssm	24	90	26.7%	cbioportal
15	PODXL	Ssm	24	90	26.7%	cbioportal
17	TRIOBP	Ssm	23	90	25.6%	cbioportal
19	MUC16	Ssm	22	90	24.4%	cbioportal
18	MAL2	Ssm	22	90	24.4%	cbioportal
22	TPO	Ssm	21	90	23.3%	cbioportal
21	MUC4	Ssm	21	90	23.3%	cbioportal
20	IRX3	Ssm	21	90	23.3%	cbioportal
23	TMEM247	Ssm	20	90	22.2%	cbioportal
28	OTOP1	Ssm	19	90	21.1%	cbioportal
24	ASPDH	Ssm	19	90	21.1%	cbioportal
25	ERCC2	Ssm	19	90	21.1%	cbioportal
26	GLTPD2	Ssm	19	90	21.1%	cbioportal
27	KCNK17	Ssm	19	90	21.1%	cbioportal
29	RINL	Ssm	19	90	21.1%	cbioportal
30	SALL3	Ssm	19	90	21.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Adrenocortical Carcinoma (TCGA GDC, 2025) acc_tcga_gdcTCGA GDC

90 cases with simple somatic mutation data · 92 cases total · 2026-02-04 · mapped to Adrenal Cortical Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	15	90	16.7%	cbioportal
2	MUC16	Ssm	14	90	15.6%	cbioportal
3	CTNNB1	Ssm	13	90	14.4%	cbioportal
4	TTN	Ssm	10	90	11.1%	cbioportal
5	ASXL3	Ssm	7	90	7.8%	cbioportal
8	PKHD1	Ssm	7	90	7.8%	cbioportal
7	PCDH15	Ssm	7	90	7.8%	cbioportal
6	CNTNAP5	Ssm	7	90	7.8%	cbioportal
13	SVEP1	Ssm	6	90	6.7%	cbioportal
11	LRP1	Ssm	6	90	6.7%	cbioportal
12	NF1	Ssm	6	90	6.7%	cbioportal
9	DST	Ssm	6	90	6.7%	cbioportal
10	HMCN1	Ssm	6	90	6.7%	cbioportal
24	TENM2	Ssm	5	90	5.6%	cbioportal
25	TUT7	Ssm	5	90	5.6%	cbioportal
23	PRKAR1A	Ssm	5	90	5.6%	cbioportal
22	MEN1	Ssm	5	90	5.6%	cbioportal
21	KMT2B	Ssm	5	90	5.6%	cbioportal
20	FRAS1	Ssm	5	90	5.6%	cbioportal
19	FBN2	Ssm	5	90	5.6%	cbioportal
18	FAT4	Ssm	5	90	5.6%	cbioportal
17	CSMD1	Ssm	5	90	5.6%	cbioportal
16	CMYA5	Ssm	5	90	5.6%	cbioportal
15	ATM	Ssm	5	90	5.6%	cbioportal
14	APOB	Ssm	5	90	5.6%	cbioportal
26	ADGRG4	Ssm	4	90	4.4%	cbioportal
27	AHNAK2	Ssm	4	90	4.4%	cbioportal
28	ANK2	Ssm	4	90	4.4%	cbioportal
29	ANK3	Ssm	4	90	4.4%	cbioportal
30	COL4A6	Ssm	4	90	4.4%	cbioportal

Data updated 22 days agoSource updated 2026-02-04

Adrenocortical Carcinoma (TCGA, PanCancer Atlas) acc_tcga_pan_can_atlas_2018TCGA

91 cases with simple somatic mutation data · 92 cases total · 2026-06-05 · mapped to Adrenal Cortical Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	18	91	19.8%	cbioportal
3	MUC16	Ssm	14	91	15.4%	cbioportal
2	CTNNB1	Ssm	14	91	15.4%	cbioportal
4	TTN	Ssm	10	91	11%	cbioportal
7	PKHD1	Ssm	8	91	8.8%	cbioportal
5	HMCN1	Ssm	8	91	8.8%	cbioportal
6	PCDH15	Ssm	8	91	8.8%	cbioportal
11	FAT4	Ssm	7	91	7.7%	cbioportal
8	ASXL3	Ssm	7	91	7.7%	cbioportal
9	CNTNAP5	Ssm	7	91	7.7%	cbioportal
10	DST	Ssm	7	91	7.7%	cbioportal
12	MEN1	Ssm	7	91	7.7%	cbioportal
17	SVEP1	Ssm	6	91	6.6%	cbioportal
13	HRNR	Ssm	6	91	6.6%	cbioportal
16	OBSCN	Ssm	6	91	6.6%	cbioportal
15	MUC4	Ssm	6	91	6.6%	cbioportal
14	KMT2B	Ssm	6	91	6.6%	cbioportal
28	FBN2	Ssm	5	91	5.5%	cbioportal
21	APOB	Ssm	5	91	5.5%	cbioportal
25	DNAH10	Ssm	5	91	5.5%	cbioportal
24	CSMD1	Ssm	5	91	5.5%	cbioportal
23	CMYA5	Ssm	5	91	5.5%	cbioportal
22	ATM	Ssm	5	91	5.5%	cbioportal
29	FLG	Ssm	5	91	5.5%	cbioportal
30	FRAS1	Ssm	5	91	5.5%	cbioportal
27	EYS	Ssm	5	91	5.5%	cbioportal
18	ADGRV1	Ssm	5	91	5.5%	cbioportal
19	AHNAK2	Ssm	5	91	5.5%	cbioportal
20	ANK2	Ssm	5	91	5.5%	cbioportal
26	DNAH5	Ssm	5	91	5.5%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Ampullary Carcinoma (Baylor College of Medicine, Cell Reports 2016) ampca_bcm_2016Baylor College of Medicine

160 cases with simple somatic mutation data · 160 cases total · 2026-01-05 · mapped to Ampulla of Vater Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	99	160	61.9%	cbioportal
2	KRAS	Ssm	86	160	53.8%	cbioportal
3	APC	Ssm	36	160	22.5%	cbioportal
4	TTN	Ssm	33	160	20.6%	cbioportal
5	SMAD4	Ssm	29	160	18.1%	cbioportal
7	SYNE1	Ssm	21	160	13.1%	cbioportal
6	PIK3CA	Ssm	21	160	13.1%	cbioportal
10	ATM	Ssm	17	160	10.6%	cbioportal
8	ARID1A	Ssm	17	160	10.6%	cbioportal
9	ARID2	Ssm	17	160	10.6%	cbioportal
13	LRP1B	Ssm	16	160	10%	cbioportal
14	NF1	Ssm	16	160	10%	cbioportal
15	TGFBR2	Ssm	16	160	10%	cbioportal
11	CDKN2A	Ssm	16	160	10%	cbioportal
12	KMT2C	Ssm	16	160	10%	cbioportal
16	ERBB3	Ssm	15	160	9.4%	cbioportal
18	ZFHX4	Ssm	15	160	9.4%	cbioportal
17	MUC16	Ssm	15	160	9.4%	cbioportal
22	FAT3	Ssm	14	160	8.8%	cbioportal
20	DMD	Ssm	14	160	8.8%	cbioportal
19	CTNNB1	Ssm	14	160	8.8%	cbioportal
23	MUC2	Ssm	14	160	8.8%	cbioportal
21	ELF3	Ssm	14	160	8.8%	cbioportal
24	DNAH5	Ssm	13	160	8.1%	cbioportal
25	RNF43	Ssm	13	160	8.1%	cbioportal
26	ACVR2A	Ssm	12	160	7.5%	cbioportal
30	MUC4	Ssm	12	160	7.5%	cbioportal
29	KMT2D	Ssm	12	160	7.5%	cbioportal
28	ERICH6B	Ssm	12	160	7.5%	cbioportal
27	CSMD2	Ssm	12	160	7.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Anaplastic Oligodendroglioma and Anaplastic Oligoastrocytoma (MSK, Neuro Oncol 2017) odg_msk_2017MSK

22 cases with simple somatic mutation data · 22 cases total · 2026-01-12 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	21	22	95.5%	cbioportal
2	IDH1	Ssm	16	22	72.7%	cbioportal
3	CIC	Ssm	13	22	59.1%	cbioportal
4	NOTCH1	Ssm	6	22	27.3%	cbioportal
6	NOTCH2	Ssm	5	22	22.7%	cbioportal
5	FUBP1	Ssm	5	22	22.7%	cbioportal
9	HLA-A	Ssm	4	18	22.2%	cbioportal
7	AR	Ssm	4	22	18.2%	cbioportal
8	ERBB4	Ssm	4	22	18.2%	cbioportal
15	ZFHX3	Ssm	3	18	16.7%	cbioportal
13	PIK3CA	Ssm	3	22	13.6%	cbioportal
11	CDKN2C	Ssm	3	22	13.6%	cbioportal
12	PALB2	Ssm	3	22	13.6%	cbioportal
14	SETD2	Ssm	3	22	13.6%	cbioportal
10	BRCA1	Ssm	3	22	13.6%	cbioportal
28	FOXO1	Ssm	2	18	11.1%	cbioportal
44	POLD1	Ssm	2	18	11.1%	cbioportal
37	MGA	Ssm	2	18	11.1%	cbioportal
43	PLCG2	Ssm	2	18	11.1%	cbioportal
33	KMT2A	Ssm	2	22	9.1%	cbioportal
34	KMT2D	Ssm	2	22	9.1%	cbioportal
35	MEN1	Ssm	2	22	9.1%	cbioportal
45	PRDM1	Ssm	2	22	9.1%	cbioportal
36	MET	Ssm	2	22	9.1%	cbioportal
38	MPL	Ssm	2	22	9.1%	cbioportal
40	NF1	Ssm	2	22	9.1%	cbioportal
39	MSH6	Ssm	2	22	9.1%	cbioportal
41	NSD1	Ssm	2	22	9.1%	cbioportal
42	PDCD1	Ssm	2	22	9.1%	cbioportal
32	KDM6A	Ssm	2	22	9.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

APOLLO1: Proteogenomic characterization of lung adenocarcinoma APOLLO-LUADAPOLLO

87 cases with simple somatic mutation data · 87 cases total · Data Release 46.0 · mapped to Lung Adenocarcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	FCGR3A	Ssm	60	87	69%	gdc
1	HSPA6	Ssm	60	87	69%	gdc
4	FCGR2B	Ssm	59	87	67.8%	gdc
3	FCGR3B	Ssm	59	87	67.8%	gdc
11	NUP210L	Ssm	58	87	66.7%	gdc
12	CD84	Ssm	58	87	66.7%	gdc
6	CREB3L4	Ssm	58	87	66.7%	gdc
7	FCGR2A	Ssm	58	87	66.7%	gdc
22	AL358472.6	Ssm	58	87	66.7%	gdc
8	CRTC2	Ssm	58	87	66.7%	gdc
9	UAP1	Ssm	58	87	66.7%	gdc
10	JTB	Ssm	58	87	66.7%	gdc
21	RAB13	Ssm	58	87	66.7%	gdc
20	RPS27	Ssm	58	87	66.7%	gdc
19	FCRLB	Ssm	58	87	66.7%	gdc
18	GATAD2B	Ssm	58	87	66.7%	gdc
17	FCRLA	Ssm	58	87	66.7%	gdc
16	SLAMF6	Ssm	58	87	66.7%	gdc
15	DENND4B	Ssm	58	87	66.7%	gdc
14	AL358472.7	Ssm	58	87	66.7%	gdc
23	SLC39A1	Ssm	58	87	66.7%	gdc
13	UHMK1	Ssm	58	87	66.7%	gdc
5	TPM3	Ssm	58	87	66.7%	gdc
26	C1orf43	Ssm	57	87	65.5%	gdc
24	AL691442.1	Ssm	57	87	65.5%	gdc
25	MSTO1	Ssm	57	87	65.5%	gdc
27	EFNA4	Ssm	57	87	65.5%	gdc
28	ATF6	Ssm	57	87	65.5%	gdc
29	C1orf189	Ssm	57	87	65.5%	gdc
30	KCNJ9	Ssm	57	87	65.5%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Appendiceal Cancer (MSK, J Clin Oncol 2022) appendiceal_msk_2022MSK

273 cases with simple somatic mutation data · 273 cases total · 2026-01-05 · mapped to Appendix Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	161	273	59%	cbioportal
2	GNAS	Ssm	91	273	33.3%	cbioportal
3	TP53	Ssm	86	273	31.5%	cbioportal
4	SMAD4	Ssm	35	273	12.8%	cbioportal
5	PIK3CA	Ssm	26	273	9.5%	cbioportal
6	SOX9	Ssm	21	273	7.7%	cbioportal
7	SMAD2	Ssm	18	273	6.6%	cbioportal
8	ATM	Ssm	17	273	6.2%	cbioportal
9	APC	Ssm	15	273	5.5%	cbioportal
10	TGFBR2	Ssm	14	273	5.1%	cbioportal
11	RNF43	Ssm	13	273	4.8%	cbioportal
17	INPPL1	Ssm	8	177	4.5%	cbioportal
13	FBXW7	Ssm	12	273	4.4%	cbioportal
12	ARID1A	Ssm	12	273	4.4%	cbioportal
15	KMT2D	Ssm	10	273	3.7%	cbioportal
14	CDH1	Ssm	10	273	3.7%	cbioportal
18	MGA	Ssm	8	264	3%	cbioportal
16	FAT1	Ssm	8	273	2.9%	cbioportal
19	NCOR1	Ssm	8	273	2.9%	cbioportal
20	SMAD3	Ssm	8	273	2.9%	cbioportal
23	PLCG2	Ssm	7	264	2.7%	cbioportal
24	PTPRT	Ssm	7	273	2.6%	cbioportal
21	AKT1	Ssm	7	273	2.6%	cbioportal
22	CARD11	Ssm	7	273	2.6%	cbioportal
50	KMT2B	Ssm	4	177	2.3%	cbioportal
25	ARID2	Ssm	6	273	2.2%	cbioportal
31	PTPRS	Ssm	6	273	2.2%	cbioportal
29	NOTCH1	Ssm	6	273	2.2%	cbioportal
26	BRAF	Ssm	6	273	2.2%	cbioportal
28	KDR	Ssm	6	273	2.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Basal Cell Carcinoma (UNIGE, Nat Genet 2016) bcc_unige_2016UNIGE

293 cases with simple somatic mutation data · 293 cases total · 2026-01-05 · mapped to Skin Basal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
16	TTN	Ssm	112	126	88.9%	cbioportal
21	MUC16	Ssm	103	126	81.7%	cbioportal
1	PTCH1	Ssm	221	293	75.4%	cbioportal
2	CSMD3	Ssm	212	293	72.4%	cbioportal
3	CSMD1	Ssm	203	293	69.3%	cbioportal
4	LRP1B	Ssm	197	293	67.2%	cbioportal
36	SYNE1	Ssm	82	126	65.1%	cbioportal
32	ADGRV1	Ssm	82	126	65.1%	cbioportal
37	ABCA13	Ssm	80	126	63.5%	cbioportal
5	TP53	Ssm	181	293	61.8%	cbioportal
40	DNAH5	Ssm	77	126	61.1%	cbioportal
42	PKHD1L1	Ssm	76	126	60.3%	cbioportal
43	FLG	Ssm	75	126	59.5%	cbioportal
46	USH2A	Ssm	74	126	58.7%	cbioportal
47	XIRP2	Ssm	74	126	58.7%	cbioportal
48	RYR2	Ssm	72	126	57.1%	cbioportal
6	TAF1L	Ssm	165	293	56.3%	cbioportal
55	ZFHX4	Ssm	70	126	55.6%	cbioportal
53	PCLO	Ssm	70	126	55.6%	cbioportal
52	PCDH15	Ssm	70	126	55.6%	cbioportal
54	RYR3	Ssm	70	126	55.6%	cbioportal
58	AHNAK2	Ssm	68	126	54%	cbioportal
59	COL22A1	Ssm	68	126	54%	cbioportal
63	MUC17	Ssm	66	126	52.4%	cbioportal
65	RP1	Ssm	66	126	52.4%	cbioportal
67	SPTA1	Ssm	66	126	52.4%	cbioportal
69	SI	Ssm	65	126	51.6%	cbioportal
7	ADGRB3	Ssm	149	293	50.9%	cbioportal
71	APOB	Ssm	64	126	50.8%	cbioportal
77	PKHD1	Ssm	63	126	50%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Biliary Tract Tumors (MSK, 2026) biliary_tract_adc_targets_msk_2026MSK

33 cases with simple somatic mutation data · 33 cases total · 2026-08-24 · mapped to Intrahepatic Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	11	33	33.3%	cbioportal
2	ELF3	Ssm	8	33	24.2%	cbioportal
3	SMAD4	Ssm	7	33	21.2%	cbioportal
6	CDKN2A	Ssm	5	33	15.2%	cbioportal
5	BAP1	Ssm	5	33	15.2%	cbioportal
4	ARID1A	Ssm	5	33	15.2%	cbioportal
7	FGFR2	Ssm	4	33	12.1%	cbioportal
11	SF3B1	Ssm	3	33	9.1%	cbioportal
10	KRAS	Ssm	3	33	9.1%	cbioportal
9	KMT2C	Ssm	3	33	9.1%	cbioportal
8	BRAF	Ssm	3	33	9.1%	cbioportal
12	TCF7L2	Ssm	3	33	9.1%	cbioportal
30	TET1	Ssm	2	33	6.1%	cbioportal
26	PIK3CB	Ssm	2	33	6.1%	cbioportal
27	PIK3CG	Ssm	2	33	6.1%	cbioportal
28	RRAS2	Ssm	2	33	6.1%	cbioportal
29	RTEL1	Ssm	2	33	6.1%	cbioportal
22	KMT2D	Ssm	2	33	6.1%	cbioportal
23	MAP3K13	Ssm	2	33	6.1%	cbioportal
24	NTRK1	Ssm	2	33	6.1%	cbioportal
25	PIK3CA	Ssm	2	33	6.1%	cbioportal
21	KMT2A	Ssm	2	33	6.1%	cbioportal
20	IDH2	Ssm	2	33	6.1%	cbioportal
19	FAT1	Ssm	2	33	6.1%	cbioportal
18	EZH1	Ssm	2	33	6.1%	cbioportal
17	ERBB4	Ssm	2	33	6.1%	cbioportal
16	ERBB3	Ssm	2	33	6.1%	cbioportal
15	CDK12	Ssm	2	33	6.1%	cbioportal
14	ATM	Ssm	2	33	6.1%	cbioportal
13	APC	Ssm	2	33	6.1%	cbioportal

Data updated 22 days agoSource updated 2026-08-24

Bladder Cancer (MSK, Eur Urol 2014) blca_mskcc_solit_2014MSK

109 cases with simple somatic mutation data · 109 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	63	109	57.8%	cbioportal
2	KDM6A	Ssm	45	109	41.3%	cbioportal
3	KMT2D	Ssm	34	109	31.2%	cbioportal
4	ARID1A	Ssm	31	109	28.4%	cbioportal
6	RB1	Ssm	25	109	22.9%	cbioportal
5	PIK3CA	Ssm	25	109	22.9%	cbioportal
7	FGFR3	Ssm	21	109	19.3%	cbioportal
8	EP300	Ssm	17	109	15.6%	cbioportal
9	STAG2	Ssm	16	109	14.7%	cbioportal
10	CREBBP	Ssm	15	109	13.8%	cbioportal
11	KMT2C	Ssm	15	109	13.8%	cbioportal
12	ERBB3	Ssm	14	109	12.8%	cbioportal
13	CDKN1A	Ssm	13	109	11.9%	cbioportal
14	ERBB2	Ssm	13	109	11.9%	cbioportal
17	NF1	Ssm	12	109	11%	cbioportal
16	KMT2A	Ssm	12	109	11%	cbioportal
15	FAT1	Ssm	12	109	11%	cbioportal
19	SMARCA4	Ssm	10	109	9.2%	cbioportal
18	RICTOR	Ssm	10	109	9.2%	cbioportal
20	ATM	Ssm	9	109	8.3%	cbioportal
22	NOTCH1	Ssm	8	109	7.3%	cbioportal
21	ATRX	Ssm	8	109	7.3%	cbioportal
23	TERT	Ssm	8	109	7.3%	cbioportal
28	NOTCH4	Ssm	7	109	6.4%	cbioportal
26	NFKB1	Ssm	7	109	6.4%	cbioportal
24	BRCA1	Ssm	7	109	6.4%	cbioportal
25	CDK12	Ssm	7	109	6.4%	cbioportal
27	NOTCH3	Ssm	7	109	6.4%	cbioportal
29	PIK3CG	Ssm	7	109	6.4%	cbioportal
30	DICER1	Ssm	6	109	5.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Bladder Cancer (MSK, Eur Urol Open Sci 2025) blca_msk_2025MSK

308 cases with simple somatic mutation data · 308 cases total · 2026-01-20 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	190	308	61.7%	cbioportal
2	TP53	Ssm	154	308	50%	cbioportal
3	ARID1A	Ssm	81	308	26.3%	cbioportal
4	KDM6A	Ssm	70	308	22.7%	cbioportal
13	KMT2D	Ssm	24	107	22.4%	cbioportal
17	KMT2C	Ssm	20	107	18.7%	cbioportal
5	FGFR3	Ssm	52	308	16.9%	cbioportal
6	RB1	Ssm	46	308	14.9%	cbioportal
23	ELF3	Ssm	15	107	14%	cbioportal
7	ERBB2	Ssm	42	308	13.6%	cbioportal
8	PIK3CA	Ssm	42	308	13.6%	cbioportal
9	ATM	Ssm	35	308	11.4%	cbioportal
31	STAG2	Ssm	12	107	11.2%	cbioportal
10	TSC1	Ssm	33	308	10.7%	cbioportal
33	CDKN1A	Ssm	11	107	10.3%	cbioportal
34	FAT1	Ssm	11	107	10.3%	cbioportal
11	BRCA2	Ssm	28	308	9.1%	cbioportal
39	H3C7	Ssm	9	107	8.4%	cbioportal
40	KMT2A	Ssm	9	107	8.4%	cbioportal
41	MGA	Ssm	9	107	8.4%	cbioportal
12	SF3B1	Ssm	25	308	8.1%	cbioportal
47	NBN	Ssm	8	107	7.5%	cbioportal
14	BRCA1	Ssm	22	308	7.1%	cbioportal
15	ERBB3	Ssm	21	308	6.8%	cbioportal
53	NCOR1	Ssm	7	107	6.5%	cbioportal
51	ANKRD11	Ssm	7	107	6.5%	cbioportal
54	ZFHX3	Ssm	7	107	6.5%	cbioportal
16	CDKN2A	Ssm	20	308	6.5%	cbioportal
18	NF1	Ssm	20	308	6.5%	cbioportal
19	APC	Ssm	18	308	5.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-20

Bladder Cancer (MSK, J Clin Onco 2013) blca_mskcc_solit_2012MSK

97 cases with simple somatic mutation data · 97 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved11 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	31	97	32%	cbioportal
2	PIK3CA	Ssm	17	97	17.5%	cbioportal
3	FGFR3	Ssm	14	97	14.4%	cbioportal
4	RB1	Ssm	10	97	10.3%	cbioportal
5	TSC1	Ssm	6	97	6.2%	cbioportal
6	KRAS	Ssm	4	97	4.1%	cbioportal
9	CDKN2A	Ssm	2	97	2.1%	cbioportal
8	BRAF	Ssm	2	97	2.1%	cbioportal
7	AKT1	Ssm	2	97	2.1%	cbioportal
10	AKT3	Ssm	1	97	1%	cbioportal
11	PTEN	Ssm	1	97	1%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Bladder Cancer (MSK, Nat Genet 2016) blca_plasmacytoid_mskcc_2016MSK

34 cases with simple somatic mutation data · 34 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CDH1	Ssm	27	34	79.4%	cbioportal
2	TP53	Ssm	20	34	58.8%	cbioportal
3	TERT	Ssm	12	34	35.3%	cbioportal
4	RB1	Ssm	9	34	26.5%	cbioportal
5	ARID1A	Ssm	8	34	23.5%	cbioportal
6	CDKN1A	Ssm	8	34	23.5%	cbioportal
7	PIK3R1	Ssm	7	34	20.6%	cbioportal
8	KMT2C	Ssm	6	34	17.6%	cbioportal
15	PIK3CA	Ssm	5	34	14.7%	cbioportal
9	BAP1	Ssm	5	34	14.7%	cbioportal
10	ERBB2	Ssm	5	34	14.7%	cbioportal
11	ERBB3	Ssm	5	34	14.7%	cbioportal
12	ERCC2	Ssm	5	34	14.7%	cbioportal
13	KMT2A	Ssm	5	34	14.7%	cbioportal
14	KMT2D	Ssm	5	34	14.7%	cbioportal
17	EPHB1	Ssm	4	34	11.8%	cbioportal
19	SMARCA4	Ssm	4	34	11.8%	cbioportal
18	NOTCH4	Ssm	4	34	11.8%	cbioportal
16	ATR	Ssm	4	34	11.8%	cbioportal
27	NRAS	Ssm	3	34	8.8%	cbioportal
20	DICER1	Ssm	3	34	8.8%	cbioportal
21	EP300	Ssm	3	34	8.8%	cbioportal
22	FAT1	Ssm	3	34	8.8%	cbioportal
23	IRS2	Ssm	3	34	8.8%	cbioportal
24	MTOR	Ssm	3	34	8.8%	cbioportal
25	NF1	Ssm	3	34	8.8%	cbioportal
26	NOTCH2	Ssm	3	34	8.8%	cbioportal
30	PTEN	Ssm	3	34	8.8%	cbioportal
29	PBRM1	Ssm	3	34	8.8%	cbioportal
28	PALB2	Ssm	3	34	8.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Bladder Cancer (MSK/TCGA, Eur Urol 2020) blca_msk_tcga_2020MSK/TCGA

474 cases with simple somatic mutation data · 476 cases total · 2026-01-27 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	245	474	51.7%	cbioportal
2	TTN	Ssm	155	474	32.7%	cbioportal
3	KMT2D	Ssm	139	474	29.3%	cbioportal
4	ARID1A	Ssm	127	474	26.8%	cbioportal
5	KDM6A	Ssm	124	474	26.2%	cbioportal
6	PIK3CA	Ssm	103	474	21.7%	cbioportal
8	TERT	Ssm	101	474	21.3%	cbioportal
7	MUC16	Ssm	101	474	21.3%	cbioportal
9	RB1	Ssm	100	474	21.1%	cbioportal
10	KMT2C	Ssm	80	474	16.9%	cbioportal
11	EP300	Ssm	70	474	14.8%	cbioportal
12	ERBB2	Ssm	70	474	14.8%	cbioportal
13	SYNE1	Ssm	66	474	13.9%	cbioportal
14	ERBB3	Ssm	65	474	13.7%	cbioportal
15	RYR2	Ssm	64	474	13.5%	cbioportal
16	FGFR3	Ssm	60	474	12.7%	cbioportal
18	FAT1	Ssm	58	474	12.2%	cbioportal
17	ATM	Ssm	58	474	12.2%	cbioportal
19	BIRC6	Ssm	56	474	11.8%	cbioportal
20	CREBBP	Ssm	56	474	11.8%	cbioportal
21	HMCN1	Ssm	55	474	11.6%	cbioportal
22	STAG2	Ssm	55	474	11.6%	cbioportal
23	MACF1	Ssm	54	474	11.4%	cbioportal
25	KMT2A	Ssm	53	474	11.2%	cbioportal
24	FLG	Ssm	53	474	11.2%	cbioportal
26	FAT4	Ssm	52	474	11%	cbioportal
27	ERCC2	Ssm	50	474	10.5%	cbioportal
29	ELF3	Ssm	48	474	10.1%	cbioportal
28	CSMD3	Ssm	48	474	10.1%	cbioportal
30	BRCA2	Ssm	47	474	9.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-27

Bladder Cancer (TCGA, Cell 2017) blca_tcga_pub_2017TCGA

412 cases with simple somatic mutation data · 413 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	198	412	48.1%	cbioportal
2	TTN	Ssm	198	412	48.1%	cbioportal
4	MUC16	Ssm	117	412	28.4%	cbioportal
3	KMT2D	Ssm	117	412	28.4%	cbioportal
5	KDM6A	Ssm	107	412	26%	cbioportal
6	ARID1A	Ssm	101	412	24.5%	cbioportal
7	PIK3CA	Ssm	91	412	22.1%	cbioportal
8	SYNE1	Ssm	84	412	20.4%	cbioportal
9	RYR2	Ssm	78	412	18.9%	cbioportal
10	KMT2C	Ssm	77	412	18.7%	cbioportal
11	HMCN1	Ssm	76	412	18.4%	cbioportal
12	RB1	Ssm	72	412	17.5%	cbioportal
13	FLG	Ssm	68	412	16.5%	cbioportal
14	MACF1	Ssm	66	412	16%	cbioportal
16	FAT4	Ssm	63	412	15.3%	cbioportal
15	EP300	Ssm	63	412	15.3%	cbioportal
17	FGFR3	Ssm	58	412	14.1%	cbioportal
19	CSMD3	Ssm	57	412	13.8%	cbioportal
20	STAG2	Ssm	57	412	13.8%	cbioportal
18	ATM	Ssm	57	412	13.8%	cbioportal
21	NEB	Ssm	56	412	13.6%	cbioportal
22	OBSCN	Ssm	56	412	13.6%	cbioportal
23	DNAH5	Ssm	54	412	13.1%	cbioportal
24	DNAH11	Ssm	53	412	12.9%	cbioportal
26	SYNE2	Ssm	52	412	12.6%	cbioportal
25	CUBN	Ssm	52	412	12.6%	cbioportal
27	BIRC6	Ssm	51	412	12.4%	cbioportal
28	FAT1	Ssm	51	412	12.4%	cbioportal
29	AHNAK2	Ssm	50	412	12.1%	cbioportal
30	CREBBP	Ssm	50	412	12.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Bladder Urothelial Carcinoma TCGA-BLCATCGA

412 cases with simple somatic mutation data · 412 cases total · Data Release 46.0 · mapped to Bladder Urothelial Carcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	294	412	71.4%	gdc
2	TTN	Ssm	281	412	68.2%	gdc
3	CDKN2A	Ssm	269	412	65.3%	gdc
4	CDKN2B	Ssm	267	412	64.8%	gdc
5	AL359922.1	Ssm	264	412	64.1%	gdc
6	CSMD1	Ssm	263	412	63.8%	gdc
7	MTAP	Ssm	261	412	63.3%	gdc
8	VPS13B	Ssm	260	412	63.1%	gdc
9	CSMD3	Ssm	260	412	63.1%	gdc
10	UBR5	Ssm	259	412	62.9%	gdc
12	DMRTA1	Ssm	255	412	61.9%	gdc
11	GRHL2	Ssm	255	412	61.9%	gdc
17	TNFRSF10A	Ssm	253	412	61.4%	gdc
19	TEX15	Ssm	253	412	61.4%	gdc
16	ZNF706	Ssm	253	412	61.4%	gdc
18	DNAH5	Ssm	253	412	61.4%	gdc
13	PABPC1	Ssm	253	412	61.4%	gdc
14	MYOM2	Ssm	253	412	61.4%	gdc
15	COL14A1	Ssm	253	412	61.4%	gdc
21	ADRA1A	Ssm	252	412	61.2%	gdc
20	RIMS2	Ssm	252	412	61.2%	gdc
24	CDCA2	Ssm	251	412	60.9%	gdc
28	PKHD1L1	Ssm	251	412	60.9%	gdc
27	FBXO43	Ssm	251	412	60.9%	gdc
26	NEFM	Ssm	251	412	60.9%	gdc
22	SORBS3	Ssm	251	412	60.9%	gdc
23	RNF19A	Ssm	251	412	60.9%	gdc
25	YWHAZ	Ssm	251	412	60.9%	gdc
30	PRAG1	Ssm	250	412	60.7%	gdc
29	RGS22	Ssm	250	412	60.7%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Bladder Urothelial Carcinoma (BGI, Nat Genet 2013) blca_bgiBGI

99 cases with simple somatic mutation data · 99 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KDM6A	Ssm	32	99	32.3%	cbioportal
2	TP53	Ssm	28	99	28.3%	cbioportal
3	PIK3CA	Ssm	24	99	24.2%	cbioportal
4	ZNF83	Ssm	18	99	18.2%	cbioportal
5	FGFR3	Ssm	16	99	16.2%	cbioportal
8	HRAS	Ssm	15	99	15.2%	cbioportal
7	CREBBP	Ssm	15	99	15.2%	cbioportal
6	ARID1A	Ssm	15	99	15.2%	cbioportal
9	EP300	Ssm	14	99	14.1%	cbioportal
11	STAG2	Ssm	13	99	13.1%	cbioportal
12	ZNF233	Ssm	13	99	13.1%	cbioportal
10	RB1	Ssm	13	99	13.1%	cbioportal
14	ERCC2	Ssm	10	99	10.1%	cbioportal
13	ERBB2	Ssm	10	99	10.1%	cbioportal
15	SYNE2	Ssm	10	99	10.1%	cbioportal
17	HMCN1	Ssm	9	99	9.1%	cbioportal
19	XIRP2	Ssm	9	99	9.1%	cbioportal
20	ZFP36L1	Ssm	9	99	9.1%	cbioportal
16	FGFRL1	Ssm	9	99	9.1%	cbioportal
18	SYNE1	Ssm	9	99	9.1%	cbioportal
22	KMT2A	Ssm	8	99	8.1%	cbioportal
21	CSMD3	Ssm	8	99	8.1%	cbioportal
27	FMN2	Ssm	7	99	7.1%	cbioportal
28	GOLGB1	Ssm	7	99	7.1%	cbioportal
29	KRAS	Ssm	7	99	7.1%	cbioportal
30	LRP2	Ssm	7	99	7.1%	cbioportal
24	ANK3	Ssm	7	99	7.1%	cbioportal
23	ACTB	Ssm	7	99	7.1%	cbioportal
25	AQP7	Ssm	7	99	7.1%	cbioportal
26	DNAH8	Ssm	7	99	7.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Bladder Urothelial Carcinoma (DFCI/MSK, Cancer Discov 2014) blca_dfarber_mskcc_2014DFCI/MSK

50 cases with simple somatic mutation data · 50 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	29	50	58%	cbioportal
2	TTN	Ssm	24	50	48%	cbioportal
3	MUC16	Ssm	19	50	38%	cbioportal
4	ERBB4	Ssm	17	50	34%	cbioportal
5	KMT2D	Ssm	15	50	30%	cbioportal
6	ZAN	Ssm	14	50	28%	cbioportal
7	ARID1A	Ssm	13	50	26%	cbioportal
11	ZNF721	Ssm	12	50	24%	cbioportal
10	RB1	Ssm	12	50	24%	cbioportal
9	KDM6A	Ssm	12	50	24%	cbioportal
8	ERBB3	Ssm	12	50	24%	cbioportal
12	AHNAK2	Ssm	10	50	20%	cbioportal
13	MUC17	Ssm	10	50	20%	cbioportal
14	PIK3CA	Ssm	10	50	20%	cbioportal
15	PRG4	Ssm	10	50	20%	cbioportal
16	SYNE1	Ssm	10	50	20%	cbioportal
23	SYNE2	Ssm	9	50	18%	cbioportal
22	RPTN	Ssm	9	50	18%	cbioportal
21	MAGEC1	Ssm	9	50	18%	cbioportal
20	FAT4	Ssm	9	50	18%	cbioportal
19	ERCC2	Ssm	9	50	18%	cbioportal
18	ANKRD30A	Ssm	9	50	18%	cbioportal
17	AHNAK	Ssm	9	50	18%	cbioportal
27	FLG	Ssm	8	50	16%	cbioportal
24	ALMS1	Ssm	8	50	16%	cbioportal
25	BIRC6	Ssm	8	50	16%	cbioportal
26	F5	Ssm	8	50	16%	cbioportal
28	KMT2C	Ssm	8	50	16%	cbioportal
29	MDN1	Ssm	8	50	16%	cbioportal
30	MUC4	Ssm	8	50	16%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Bladder Urothelial Carcinoma SWOG S1314 Trial (MSK, JCO Precis Oncol 2024) blca_msk_2024MSK

184 cases with simple somatic mutation data · 184 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	141	184	76.6%	cbioportal
2	TP53	Ssm	116	184	63%	cbioportal
3	KMT2D	Ssm	64	184	34.8%	cbioportal
4	KDM6A	Ssm	55	184	29.9%	cbioportal
5	ARID1A	Ssm	50	184	27.2%	cbioportal
6	RB1	Ssm	48	184	26.1%	cbioportal
7	PIK3CA	Ssm	42	184	22.8%	cbioportal
8	KMT2C	Ssm	35	184	19%	cbioportal
9	ATM	Ssm	31	184	16.8%	cbioportal
10	ELF3	Ssm	29	184	15.8%	cbioportal
11	FAT1	Ssm	29	184	15.8%	cbioportal
13	ERCC2	Ssm	27	184	14.7%	cbioportal
12	CREBBP	Ssm	27	184	14.7%	cbioportal
15	KMT2A	Ssm	26	184	14.1%	cbioportal
14	BRCA2	Ssm	26	184	14.1%	cbioportal
16	ERBB2	Ssm	25	184	13.6%	cbioportal
17	FGFR3	Ssm	25	184	13.6%	cbioportal
18	EP300	Ssm	24	184	13%	cbioportal
19	ERBB3	Ssm	24	184	13%	cbioportal
20	TSC1	Ssm	22	184	12%	cbioportal
21	FBXW7	Ssm	21	184	11.4%	cbioportal
22	CDKN1A	Ssm	20	184	10.9%	cbioportal
24	NF1	Ssm	18	184	9.8%	cbioportal
23	H3C7	Ssm	18	184	9.8%	cbioportal
25	STAG2	Ssm	18	184	9.8%	cbioportal
26	PTPRT	Ssm	17	184	9.2%	cbioportal
29	NSD1	Ssm	16	184	8.7%	cbioportal
28	KMT2B	Ssm	16	184	8.7%	cbioportal
27	CDKN2A	Ssm	16	184	8.7%	cbioportal
30	ARID1B	Ssm	15	184	8.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Bladder Urothelial Carcinoma (TCGA, Firehose Legacy) blca_tcgaTCGA

130 cases with simple somatic mutation data · 413 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	73	130	56.2%	cbioportal
2	TP53	Ssm	64	130	49.2%	cbioportal
3	MUC16	Ssm	43	130	33.1%	cbioportal
4	KMT2D	Ssm	36	130	27.7%	cbioportal
5	ARID1A	Ssm	34	130	26.2%	cbioportal
6	KDM6A	Ssm	31	130	23.8%	cbioportal
7	KMT2C	Ssm	27	130	20.8%	cbioportal
8	PIK3CA	Ssm	26	130	20%	cbioportal
9	HMCN1	Ssm	24	130	18.5%	cbioportal
10	SYNE1	Ssm	24	130	18.5%	cbioportal
11	FLG	Ssm	23	130	17.7%	cbioportal
12	EP300	Ssm	21	130	16.2%	cbioportal
13	RYR2	Ssm	20	130	15.4%	cbioportal
16	PKHD1L1	Ssm	19	130	14.6%	cbioportal
17	ZFHX4	Ssm	19	130	14.6%	cbioportal
15	PDE4DIP	Ssm	19	130	14.6%	cbioportal
14	MACF1	Ssm	19	130	14.6%	cbioportal
18	AHNAK2	Ssm	18	130	13.8%	cbioportal
19	CDKN1A	Ssm	18	130	13.8%	cbioportal
20	KMT2A	Ssm	18	130	13.8%	cbioportal
26	RB1	Ssm	17	130	13.1%	cbioportal
21	CREBBP	Ssm	17	130	13.1%	cbioportal
22	DNAH11	Ssm	17	130	13.1%	cbioportal
23	FAT4	Ssm	17	130	13.1%	cbioportal
24	LRP1B	Ssm	17	130	13.1%	cbioportal
27	SYNE2	Ssm	17	130	13.1%	cbioportal
25	MUC17	Ssm	17	130	13.1%	cbioportal
28	ADGRV1	Ssm	16	130	12.3%	cbioportal
30	FGFR3	Ssm	16	130	12.3%	cbioportal
29	ERCC2	Ssm	16	130	12.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Bladder Urothelial Carcinoma (TCGA GDC, 2025) blca_tcga_gdcTCGA GDC

408 cases with simple somatic mutation data · 413 cases total · 2026-01-19 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	202	408	49.5%	cbioportal
2	TTN	Ssm	176	408	43.1%	cbioportal
3	KMT2D	Ssm	109	408	26.7%	cbioportal
4	KDM6A	Ssm	104	408	25.5%	cbioportal
5	MUC16	Ssm	103	408	25.2%	cbioportal
6	ARID1A	Ssm	100	408	24.5%	cbioportal
7	PIK3CA	Ssm	86	408	21.1%	cbioportal
8	SYNE1	Ssm	80	408	19.6%	cbioportal
9	RB1	Ssm	72	408	17.6%	cbioportal
10	KMT2C	Ssm	69	408	16.9%	cbioportal
11	RYR2	Ssm	69	408	16.9%	cbioportal
12	HMCN1	Ssm	66	408	16.2%	cbioportal
13	EP300	Ssm	60	408	14.7%	cbioportal
14	FAT4	Ssm	60	408	14.7%	cbioportal
15	MACF1	Ssm	60	408	14.7%	cbioportal
16	FLG	Ssm	58	408	14.2%	cbioportal
17	FGFR3	Ssm	56	408	13.7%	cbioportal
18	STAG2	Ssm	56	408	13.7%	cbioportal
19	ELF3	Ssm	55	408	13.5%	cbioportal
20	CSMD3	Ssm	53	408	13%	cbioportal
21	ATM	Ssm	51	408	12.5%	cbioportal
22	OBSCN	Ssm	50	408	12.3%	cbioportal
23	NEB	Ssm	49	408	12%	cbioportal
24	CUBN	Ssm	48	408	11.8%	cbioportal
25	BIRC6	Ssm	47	408	11.5%	cbioportal
26	DNAH5	Ssm	47	408	11.5%	cbioportal
27	SYNE2	Ssm	47	408	11.5%	cbioportal
29	ERBB2	Ssm	46	408	11.3%	cbioportal
30	XIRP2	Ssm	46	408	11.3%	cbioportal
28	CREBBP	Ssm	46	408	11.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-19

Bladder Urothelial Carcinoma (TCGA, Nature 2014) blca_tcga_pubTCGA

130 cases with simple somatic mutation data · 131 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	72	130	55.4%	cbioportal
2	TP53	Ssm	64	130	49.2%	cbioportal
3	MUC16	Ssm	43	130	33.1%	cbioportal
4	KMT2D	Ssm	35	130	26.9%	cbioportal
5	ARID1A	Ssm	33	130	25.4%	cbioportal
6	KDM6A	Ssm	31	130	23.8%	cbioportal
7	KMT2C	Ssm	28	130	21.5%	cbioportal
8	PIK3CA	Ssm	26	130	20%	cbioportal
9	FLG	Ssm	25	130	19.2%	cbioportal
10	HMCN1	Ssm	24	130	18.5%	cbioportal
11	SYNE1	Ssm	24	130	18.5%	cbioportal
13	RYR2	Ssm	20	130	15.4%	cbioportal
12	EP300	Ssm	20	130	15.4%	cbioportal
18	ZFHX4	Ssm	19	130	14.6%	cbioportal
17	PKHD1L1	Ssm	19	130	14.6%	cbioportal
15	MACF1	Ssm	19	130	14.6%	cbioportal
14	AHNAK2	Ssm	19	130	14.6%	cbioportal
16	PDE4DIP	Ssm	19	130	14.6%	cbioportal
19	CDKN1A	Ssm	18	130	13.8%	cbioportal
22	SYNE2	Ssm	18	130	13.8%	cbioportal
21	LRP1B	Ssm	18	130	13.8%	cbioportal
20	KMT2A	Ssm	18	130	13.8%	cbioportal
23	LYST	Ssm	17	130	13.1%	cbioportal
24	MUC17	Ssm	17	130	13.1%	cbioportal
25	RB1	Ssm	17	130	13.1%	cbioportal
28	CSMD3	Ssm	16	130	12.3%	cbioportal
27	CREBBP	Ssm	16	130	12.3%	cbioportal
26	ADGRV1	Ssm	16	130	12.3%	cbioportal
30	DNAH3	Ssm	16	130	12.3%	cbioportal
29	DNAH11	Ssm	16	130	12.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Bladder Urothelial Carcinoma (TCGA, PanCancer Atlas) blca_tcga_pan_can_atlas_2018TCGA

410 cases with simple somatic mutation data · 411 cases total · 2026-08-20 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	202	410	49.3%	cbioportal
2	TTN	Ssm	192	410	46.8%	cbioportal
3	MUC16	Ssm	119	410	29%	cbioportal
4	KMT2D	Ssm	117	410	28.5%	cbioportal
5	KDM6A	Ssm	106	410	25.9%	cbioportal
6	ARID1A	Ssm	105	410	25.6%	cbioportal
7	PIK3CA	Ssm	90	410	22%	cbioportal
8	SYNE1	Ssm	87	410	21.2%	cbioportal
9	KMT2C	Ssm	81	410	19.8%	cbioportal
10	RB1	Ssm	78	410	19%	cbioportal
12	RYR2	Ssm	76	410	18.5%	cbioportal
11	MACF1	Ssm	76	410	18.5%	cbioportal
13	HMCN1	Ssm	75	410	18.3%	cbioportal
14	FLG	Ssm	68	410	16.6%	cbioportal
16	FAT4	Ssm	63	410	15.4%	cbioportal
15	EP300	Ssm	63	410	15.4%	cbioportal
17	FGFR3	Ssm	59	410	14.4%	cbioportal
18	CSMD3	Ssm	58	410	14.1%	cbioportal
19	STAG2	Ssm	57	410	13.9%	cbioportal
20	ATM	Ssm	55	410	13.4%	cbioportal
23	OBSCN	Ssm	54	410	13.2%	cbioportal
22	ELF3	Ssm	54	410	13.2%	cbioportal
21	BIRC6	Ssm	54	410	13.2%	cbioportal
24	CUBN	Ssm	53	410	12.9%	cbioportal
25	NEB	Ssm	53	410	12.9%	cbioportal
26	DNAH11	Ssm	52	410	12.7%	cbioportal
28	SYNE2	Ssm	52	410	12.7%	cbioportal
27	LRP1B	Ssm	52	410	12.7%	cbioportal
30	CREBBP	Ssm	51	410	12.4%	cbioportal
29	AHNAK2	Ssm	51	410	12.4%	cbioportal

Data updated 22 days agoSource updated 2026-08-20

B-Lymphoblastic Leukemia/Lymphoma (TARGET GDC, 2025) bll_target_gdcTARGET GDC

739 cases with simple somatic mutation data · 989 cases total · 2026-01-14 · mapped to B Lymphoblastic Leukemia/Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NOTCH1	Ssm	159	739	21.5%	cbioportal
2	KRAS	Ssm	90	739	12.2%	cbioportal
3	NRAS	Ssm	88	739	11.9%	cbioportal
4	FBXW7	Ssm	59	739	8%	cbioportal
5	PHF6	Ssm	44	739	6%	cbioportal
6	TTN	Ssm	35	739	4.7%	cbioportal
7	PAX5	Ssm	33	739	4.5%	cbioportal
8	KMT2D	Ssm	32	739	4.3%	cbioportal
9	PTEN	Ssm	29	739	3.9%	cbioportal
10	FLT3	Ssm	28	739	3.8%	cbioportal
11	USP7	Ssm	28	739	3.8%	cbioportal
12	DNM2	Ssm	26	739	3.5%	cbioportal
13	CREBBP	Ssm	25	739	3.4%	cbioportal
14	BCL11B	Ssm	24	739	3.2%	cbioportal
15	NSD2	Ssm	23	739	3.1%	cbioportal
16	PTPN11	Ssm	23	739	3.1%	cbioportal
17	JAK2	Ssm	22	739	3%	cbioportal
19	SETD2	Ssm	19	739	2.6%	cbioportal
18	ETV6	Ssm	19	739	2.6%	cbioportal
22	IKZF1	Ssm	17	739	2.3%	cbioportal
21	FSIP2	Ssm	17	739	2.3%	cbioportal
23	TP53	Ssm	17	739	2.3%	cbioportal
20	CTCF	Ssm	17	739	2.3%	cbioportal
24	JAK3	Ssm	16	739	2.2%	cbioportal
25	USH2A	Ssm	16	739	2.2%	cbioportal
26	IL7R	Ssm	15	739	2%	cbioportal
27	JAK1	Ssm	15	739	2%	cbioportal
28	ZFHX4	Ssm	15	739	2%	cbioportal
29	EZH2	Ssm	14	739	1.9%	cbioportal
31	RYR2	Ssm	14	739	1.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Brain Lower Grade Glioma TCGA-LGGTCGA

516 cases with simple somatic mutation data · 516 cases total · Data Release 46.0 · mapped to Low Grade Glioma CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	402	516	77.9%	gdc
2	NLRP5	Ssm	284	516	55%	gdc
3	NLRP2	Ssm	283	516	54.8%	gdc
4	PPP1R12C	Ssm	282	516	54.7%	gdc
7	NLRP8	Ssm	282	516	54.7%	gdc
6	PEG3	Ssm	282	516	54.7%	gdc
5	NLRP11	Ssm	282	516	54.7%	gdc
20	ZNF667	Ssm	281	516	54.5%	gdc
21	NLRP4	Ssm	281	516	54.5%	gdc
22	PTPRH	Ssm	281	516	54.5%	gdc
23	GP6	Ssm	281	516	54.5%	gdc
15	NLRP7	Ssm	281	516	54.5%	gdc
14	ZNF460	Ssm	281	516	54.5%	gdc
13	FIZ1	Ssm	281	516	54.5%	gdc
12	ZNF551	Ssm	281	516	54.5%	gdc
11	NLRP9	Ssm	281	516	54.5%	gdc
10	EPS8L1	Ssm	281	516	54.5%	gdc
9	LILRA1	Ssm	281	516	54.5%	gdc
8	ZNF671	Ssm	281	516	54.5%	gdc
18	ZNF581	Ssm	281	516	54.5%	gdc
17	NLRP13	Ssm	281	516	54.5%	gdc
16	ZSCAN1	Ssm	281	516	54.5%	gdc
19	ZNF470	Ssm	281	516	54.5%	gdc
24	FAM71E2	Ssm	280	516	54.3%	gdc
25	SBK2	Ssm	280	516	54.3%	gdc
26	ZNF416	Ssm	280	516	54.3%	gdc
30	CCDC106	Ssm	280	516	54.3%	gdc
27	ZNF264	Ssm	280	516	54.3%	gdc
28	SHISA7	Ssm	280	516	54.3%	gdc
29	EPN1	Ssm	280	516	54.3%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Brain Lower Grade Glioma (TCGA, Firehose Legacy) lgg_tcgaTCGA

286 cases with simple somatic mutation data · 530 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	221	286	77.3%	cbioportal
2	TP53	Ssm	146	286	51%	cbioportal
3	ATRX	Ssm	118	286	41.3%	cbioportal
4	CIC	Ssm	56	286	19.6%	cbioportal
5	NOTCH1	Ssm	31	286	10.8%	cbioportal
6	TTN	Ssm	26	286	9.1%	cbioportal
7	FUBP1	Ssm	25	286	8.7%	cbioportal
8	PIK3CA	Ssm	24	286	8.4%	cbioportal
9	NF1	Ssm	17	286	5.9%	cbioportal
10	EGFR	Ssm	15	286	5.2%	cbioportal
11	MUC16	Ssm	15	286	5.2%	cbioportal
12	PIK3R1	Ssm	14	286	4.9%	cbioportal
13	PTEN	Ssm	13	286	4.5%	cbioportal
14	SMARCA4	Ssm	13	286	4.5%	cbioportal
15	ARID1A	Ssm	12	286	4.2%	cbioportal
16	IDH2	Ssm	12	286	4.2%	cbioportal
17	ZBTB20	Ssm	10	286	3.5%	cbioportal
21	OBSCN	Ssm	9	286	3.1%	cbioportal
22	RYR2	Ssm	9	286	3.1%	cbioportal
20	FLG	Ssm	9	286	3.1%	cbioportal
19	BCOR	Ssm	9	286	3.1%	cbioportal
18	APOB	Ssm	9	286	3.1%	cbioportal
23	FAT2	Ssm	8	286	2.8%	cbioportal
24	PKHD1	Ssm	8	286	2.8%	cbioportal
25	TCF12	Ssm	8	286	2.8%	cbioportal
28	MYH2	Ssm	7	286	2.4%	cbioportal
26	LRP2	Ssm	7	286	2.4%	cbioportal
27	MUC17	Ssm	7	286	2.4%	cbioportal
30	AFF2	Ssm	6	286	2.1%	cbioportal
29	ADGRV1	Ssm	6	286	2.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Brain Lower Grade Glioma (TCGA, PanCancer Atlas) lgg_tcga_pan_can_atlas_2018TCGA

514 cases with simple somatic mutation data · 514 cases total · 2026-06-03 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	395	514	76.8%	cbioportal
2	TP53	Ssm	249	514	48.4%	cbioportal
3	ATRX	Ssm	194	514	37.7%	cbioportal
4	CIC	Ssm	108	514	21%	cbioportal
5	TTN	Ssm	62	514	12.1%	cbioportal
6	FUBP1	Ssm	48	514	9.3%	cbioportal
7	PIK3CA	Ssm	42	514	8.2%	cbioportal
8	NOTCH1	Ssm	38	514	7.4%	cbioportal
9	MUC16	Ssm	36	514	7%	cbioportal
10	EGFR	Ssm	35	514	6.8%	cbioportal
11	NF1	Ssm	31	514	6%	cbioportal
12	SMARCA4	Ssm	25	514	4.9%	cbioportal
13	PTEN	Ssm	24	514	4.7%	cbioportal
14	FLG	Ssm	23	514	4.5%	cbioportal
15	PIK3R1	Ssm	22	514	4.3%	cbioportal
16	IDH2	Ssm	21	514	4.1%	cbioportal
17	RYR2	Ssm	21	514	4.1%	cbioportal
18	ZBTB20	Ssm	20	514	3.9%	cbioportal
19	ARID1A	Ssm	19	514	3.7%	cbioportal
20	NIPBL	Ssm	18	514	3.5%	cbioportal
21	OBSCN	Ssm	18	514	3.5%	cbioportal
22	PCLO	Ssm	18	514	3.5%	cbioportal
23	HMCN1	Ssm	17	514	3.3%	cbioportal
24	MUC17	Ssm	16	514	3.1%	cbioportal
26	BCOR	Ssm	15	514	2.9%	cbioportal
25	APOB	Ssm	15	514	2.9%	cbioportal
27	LRP2	Ssm	15	514	2.9%	cbioportal
29	TCF12	Ssm	14	514	2.7%	cbioportal
28	ADGRV1	Ssm	14	514	2.7%	cbioportal
30	FAT2	Ssm	13	514	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-06-03

Brain Tumor PDXs (Mayo Clinic, Clin Cancer Res 2020) gbm_mayo_pdx_sarkaria_2019Mayo Clinic

105 cases with simple somatic mutation data · 106 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC16	Ssm	60	105	57.1%	cbioportal
2	MUC4	Ssm	54	105	51.4%	cbioportal
3	MUC6	Ssm	52	105	49.5%	cbioportal
4	TTN	Ssm	48	105	45.7%	cbioportal
5	TAS2R46	Ssm	46	105	43.8%	cbioportal
6	PABPC3	Ssm	44	105	41.9%	cbioportal
7	MUC2	Ssm	43	105	41%	cbioportal
8	TRBV7-7	Ssm	43	105	41%	cbioportal
9	GXYLT1	Ssm	42	105	40%	cbioportal
10	GOLGA6L2	Ssm	40	105	38.1%	cbioportal
11	PLIN4	Ssm	40	105	38.1%	cbioportal
12	MST1P2	Ssm	36	105	34.3%	cbioportal
13	UBXN11	Ssm	34	105	32.4%	cbioportal
14	MUC3A	Ssm	33	105	31.4%	cbioportal
15	FRG2B	Ssm	32	105	30.5%	cbioportal
16	MUC5B	Ssm	32	105	30.5%	cbioportal
17	BAGE2	Ssm	31	105	29.5%	cbioportal
18	TP53	Ssm	31	105	29.5%	cbioportal
19	HLA-DRB5	Ssm	30	105	28.6%	cbioportal
20	MAP3K1	Ssm	30	105	28.6%	cbioportal
24	TRBV5-6	Ssm	29	105	27.6%	cbioportal
25	URI1	Ssm	29	105	27.6%	cbioportal
21	CNN2	Ssm	29	105	27.6%	cbioportal
22	DDX12P	Ssm	29	105	27.6%	cbioportal
23	HLA-DRB6	Ssm	29	105	27.6%	cbioportal
29	LINC00955	Ssm	28	105	26.7%	cbioportal
28	KCNJ12	Ssm	28	105	26.7%	cbioportal
27	IGHV1-3	Ssm	28	105	26.7%	cbioportal
26	IGHJ6	Ssm	28	105	26.7%	cbioportal
30	WNK1	Ssm	28	105	26.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Breast Cancer (HTAN, 2022) brca_hta9_htan_2022HTAN

5 cases with simple somatic mutation data · 5 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
3	CCDC158	Ssm	5	5	100%	cbioportal
2	BNC2	Ssm	5	5	100%	cbioportal
1	ATP2B2	Ssm	5	5	100%	cbioportal
25	SLITRK3	Ssm	5	5	100%	cbioportal
6	CRTAM	Ssm	5	5	100%	cbioportal
7	DNAH6	Ssm	5	5	100%	cbioportal
8	DPM1	Ssm	5	5	100%	cbioportal
9	ENTHD1	Ssm	5	5	100%	cbioportal
10	FLG	Ssm	5	5	100%	cbioportal
11	GCA	Ssm	5	5	100%	cbioportal
12	GDPD2	Ssm	5	5	100%	cbioportal
13	GPM6B	Ssm	5	5	100%	cbioportal
14	HSF5	Ssm	5	5	100%	cbioportal
15	IPO13	Ssm	5	5	100%	cbioportal
16	MYO15A	Ssm	5	5	100%	cbioportal
17	PCNT	Ssm	5	5	100%	cbioportal
18	PEX5L	Ssm	5	5	100%	cbioportal
19	PKHD1L1	Ssm	5	5	100%	cbioportal
20	PLEKHM1	Ssm	5	5	100%	cbioportal
21	PREX1	Ssm	5	5	100%	cbioportal
22	SBNO2	Ssm	5	5	100%	cbioportal
23	SH2B1	Ssm	5	5	100%	cbioportal
24	SLC35B3	Ssm	5	5	100%	cbioportal
5	CEP55	Ssm	5	5	100%	cbioportal
26	TBC1D5	Ssm	5	5	100%	cbioportal
27	THOP1	Ssm	5	5	100%	cbioportal
28	ZC3H12C	Ssm	5	5	100%	cbioportal
29	ZNF648	Ssm	5	5	100%	cbioportal
4	CDK9	Ssm	5	5	100%	cbioportal
30	CFAP65	Ssm	4	5	80%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Cancer (METABRIC, Nature 2012 & Nat Commun 2016) brca_metabricMETABRIC

2,433 cases with simple somatic mutation data · 2,509 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	975	2,433	40.1%	cbioportal
2	TP53	Ssm	864	2,433	35.5%	cbioportal
3	MUC16	Ssm	409	2,433	16.8%	cbioportal
4	AHNAK2	Ssm	395	2,433	16.2%	cbioportal
5	SYNE1	Ssm	294	2,433	12.1%	cbioportal
6	KMT2C	Ssm	280	2,433	11.5%	cbioportal
7	GATA3	Ssm	269	2,433	11.1%	cbioportal
8	CDH1	Ssm	236	2,433	9.7%	cbioportal
9	MAP3K1	Ssm	236	2,433	9.7%	cbioportal
10	DNAH11	Ssm	226	2,433	9.3%	cbioportal
11	AHNAK	Ssm	220	2,433	9%	cbioportal
12	DNAH2	Ssm	186	2,433	7.6%	cbioportal
13	KMT2D	Ssm	176	2,433	7.2%	cbioportal
14	USH2A	Ssm	170	2,433	7%	cbioportal
15	DNAH5	Ssm	167	2,433	6.9%	cbioportal
16	HERC2	Ssm	161	2,433	6.6%	cbioportal
17	RYR2	Ssm	161	2,433	6.6%	cbioportal
18	PDE4DIP	Ssm	146	2,433	6%	cbioportal
19	AKAP9	Ssm	143	2,433	5.9%	cbioportal
20	TG	Ssm	137	2,433	5.6%	cbioportal
21	BIRC6	Ssm	128	2,433	5.3%	cbioportal
22	UTRN	Ssm	124	2,433	5.1%	cbioportal
23	TBX3	Ssm	123	2,433	5.1%	cbioportal
24	COL6A3	Ssm	119	2,433	4.9%	cbioportal
25	LAMA2	Ssm	117	2,433	4.8%	cbioportal
26	NOTCH1	Ssm	116	2,433	4.8%	cbioportal
27	ARID1A	Ssm	114	2,433	4.7%	cbioportal
28	CBFB	Ssm	112	2,433	4.6%	cbioportal
29	COL12A1	Ssm	103	2,433	4.2%	cbioportal
30	NCOR2	Ssm	102	2,433	4.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Cancer (MSK, Clinical Cancer Res 2020) brca_pareja_msk_2020MSK

60 cases with simple somatic mutation data · 60 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	29	60	48.3%	cbioportal
2	PIK3CA	Ssm	22	60	36.7%	cbioportal
3	GATA3	Ssm	15	60	25%	cbioportal
4	MUC16	Ssm	9	60	15%	cbioportal
5	AGGF1	Ssm	8	60	13.3%	cbioportal
6	CCAR1	Ssm	7	60	11.7%	cbioportal
7	CDC27	Ssm	7	60	11.7%	cbioportal
9	TTN	Ssm	7	60	11.7%	cbioportal
8	KIF5A	Ssm	7	60	11.7%	cbioportal
11	DNAH1	Ssm	6	60	10%	cbioportal
14	PPL	Ssm	6	60	10%	cbioportal
13	PKHD1	Ssm	6	60	10%	cbioportal
12	KMT2A	Ssm	6	60	10%	cbioportal
15	PTEN	Ssm	6	60	10%	cbioportal
10	ARHGAP22	Ssm	6	60	10%	cbioportal
16	RP1	Ssm	6	60	10%	cbioportal
17	ADAMTS14	Ssm	5	60	8.3%	cbioportal
20	ATR	Ssm	5	60	8.3%	cbioportal
18	APOBR	Ssm	5	60	8.3%	cbioportal
19	ARHGEF18	Ssm	5	60	8.3%	cbioportal
28	USP8	Ssm	5	60	8.3%	cbioportal
27	SPEN	Ssm	5	60	8.3%	cbioportal
26	SCN4A	Ssm	5	60	8.3%	cbioportal
25	NPAT	Ssm	5	60	8.3%	cbioportal
24	MLXIP	Ssm	5	60	8.3%	cbioportal
23	L3MBTL1	Ssm	5	60	8.3%	cbioportal
22	IFT122	Ssm	5	60	8.3%	cbioportal
21	CBFB	Ssm	5	60	8.3%	cbioportal
56	IFNGR1	Ssm	4	60	6.7%	cbioportal
57	JCAD	Ssm	4	60	6.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Cancer (MSK, Nat Genet 2025) breast_msk_2025MSK

3,879 cases with simple somatic mutation data · 3,879 cases total · 2026-01-20 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	1,707	3,879	44%	cbioportal
2	PIK3CA	Ssm	1,401	3,879	36.1%	cbioportal
3	GATA3	Ssm	582	3,879	15%	cbioportal
4	CDH1	Ssm	566	3,879	14.6%	cbioportal
5	ESR1	Ssm	388	3,879	10%	cbioportal
6	KMT2C	Ssm	357	3,879	9.2%	cbioportal
7	MAP3K1	Ssm	314	3,879	8.1%	cbioportal
8	PTEN	Ssm	303	3,879	7.8%	cbioportal
9	ARID1A	Ssm	279	3,879	7.2%	cbioportal
10	TBX3	Ssm	237	3,879	6.1%	cbioportal
11	AKT1	Ssm	220	3,879	5.7%	cbioportal
12	NF1	Ssm	217	3,879	5.6%	cbioportal
13	FOXA1	Ssm	194	3,879	5%	cbioportal
14	KMT2D	Ssm	188	3,879	4.8%	cbioportal
15	ERBB2	Ssm	182	3,879	4.7%	cbioportal
16	MAP2K4	Ssm	169	3,879	4.4%	cbioportal
17	RB1	Ssm	169	3,879	4.4%	cbioportal
18	NCOR1	Ssm	163	3,879	4.2%	cbioportal
19	SPEN	Ssm	157	3,879	4%	cbioportal
20	CBFB	Ssm	153	3,879	3.9%	cbioportal
21	BRCA2	Ssm	152	3,879	3.9%	cbioportal
22	FAT1	Ssm	149	3,879	3.8%	cbioportal
23	RUNX1	Ssm	143	3,879	3.7%	cbioportal
24	ATM	Ssm	126	3,879	3.2%	cbioportal
25	KMT2A	Ssm	122	3,879	3.1%	cbioportal
26	ZFHX3	Ssm	110	3,508	3.1%	cbioportal
52	PREX2	Ssm	76	2,602	2.9%	cbioportal
32	MGA	Ssm	99	3,508	2.8%	cbioportal
27	PIK3R1	Ssm	106	3,879	2.7%	cbioportal
59	KMT2B	Ssm	70	2,602	2.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-20

Breast Cancer (MSK, NPJ Breast Cancer 2019) brca_mskcc_2019MSK

70 cases with simple somatic mutation data · 70 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	35	70	50%	cbioportal
2	TP53	Ssm	19	70	27.1%	cbioportal
3	CDH1	Ssm	15	70	21.4%	cbioportal
5	MAP3K1	Ssm	12	70	17.1%	cbioportal
4	GATA3	Ssm	12	70	17.1%	cbioportal
6	KMT2C	Ssm	10	70	14.3%	cbioportal
8	MDC1	Ssm	8	70	11.4%	cbioportal
7	ERBB2	Ssm	8	70	11.4%	cbioportal
11	PTEN	Ssm	7	70	10%	cbioportal
10	MED12	Ssm	7	70	10%	cbioportal
9	BRCA2	Ssm	7	70	10%	cbioportal
15	TSC2	Ssm	6	70	8.6%	cbioportal
13	ATM	Ssm	6	70	8.6%	cbioportal
12	ALK	Ssm	6	70	8.6%	cbioportal
14	RUNX1	Ssm	6	70	8.6%	cbioportal
22	TGFBR2	Ssm	5	70	7.1%	cbioportal
16	BRCA1	Ssm	5	70	7.1%	cbioportal
17	EGFR	Ssm	5	70	7.1%	cbioportal
18	ESR1	Ssm	5	70	7.1%	cbioportal
19	NCOR1	Ssm	5	70	7.1%	cbioportal
20	POLE	Ssm	5	70	7.1%	cbioportal
21	PTPRD	Ssm	5	70	7.1%	cbioportal
30	SPEN	Ssm	4	70	5.7%	cbioportal
23	ATR	Ssm	4	70	5.7%	cbioportal
24	ERBB3	Ssm	4	70	5.7%	cbioportal
25	FANCA	Ssm	4	70	5.7%	cbioportal
26	FAT1	Ssm	4	70	5.7%	cbioportal
27	MAP2K4	Ssm	4	70	5.7%	cbioportal
28	NOTCH2	Ssm	4	70	5.7%	cbioportal
29	SF3B1	Ssm	4	70	5.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Cancer (SMC 2018) brca_smc_2018

186 cases with simple somatic mutation data · 187 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	89	186	47.8%	cbioportal
2	PIK3CA	Ssm	53	186	28.5%	cbioportal
3	GATA3	Ssm	23	186	12.4%	cbioportal
4	TTN	Ssm	23	186	12.4%	cbioportal
5	MUC16	Ssm	12	186	6.5%	cbioportal
6	CSMD3	Ssm	9	186	4.8%	cbioportal
7	MAP3K1	Ssm	9	186	4.8%	cbioportal
8	MAML3	Ssm	8	186	4.3%	cbioportal
9	APOB	Ssm	7	186	3.8%	cbioportal
10	ARID1A	Ssm	7	186	3.8%	cbioportal
11	KMT2C	Ssm	7	186	3.8%	cbioportal
12	MUC4	Ssm	7	186	3.8%	cbioportal
13	NEB	Ssm	7	186	3.8%	cbioportal
14	NF1	Ssm	7	186	3.8%	cbioportal
15	SYNE1	Ssm	7	186	3.8%	cbioportal
16	UBR4	Ssm	7	186	3.8%	cbioportal
17	LRP1B	Ssm	6	186	3.2%	cbioportal
18	NEFH	Ssm	6	186	3.2%	cbioportal
19	PKHD1	Ssm	6	186	3.2%	cbioportal
20	PTEN	Ssm	6	186	3.2%	cbioportal
21	USH2A	Ssm	6	186	3.2%	cbioportal
22	ZNF536	Ssm	6	186	3.2%	cbioportal
23	ABCA13	Ssm	5	186	2.7%	cbioportal
24	AKT1	Ssm	5	186	2.7%	cbioportal
25	ANK3	Ssm	5	186	2.7%	cbioportal
26	ATXN1	Ssm	5	186	2.7%	cbioportal
27	BIRC6	Ssm	5	186	2.7%	cbioportal
28	CBFB	Ssm	5	186	2.7%	cbioportal
29	CDH23	Ssm	5	186	2.7%	cbioportal
30	COL4A6	Ssm	5	186	2.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Cancer Xenografts (British Columbia, Nature 2015) brca_bccrc_xenograft_2014British Columbia

116 cases with simple somatic mutation data · 117 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	41	116	35.3%	cbioportal
2	ABCD4	Ssm	24	116	20.7%	cbioportal
3	SHOC2	Ssm	24	116	20.7%	cbioportal
4	FAM47C	Ssm	22	116	19%	cbioportal
5	KALRN	Ssm	22	116	19%	cbioportal
6	PLEC	Ssm	21	116	18.1%	cbioportal
8	TTN	Ssm	20	116	17.2%	cbioportal
7	NOTCH1	Ssm	20	116	17.2%	cbioportal
9	ZNF415	Ssm	20	116	17.2%	cbioportal
10	CCER1	Ssm	19	116	16.4%	cbioportal
11	HPS3	Ssm	17	116	14.7%	cbioportal
26	MMP16	Ssm	16	116	13.8%	cbioportal
12	ANKRD61	Ssm	16	116	13.8%	cbioportal
13	APOA5	Ssm	16	116	13.8%	cbioportal
14	ARMC12	Ssm	16	116	13.8%	cbioportal
15	ASIC5	Ssm	16	116	13.8%	cbioportal
16	ATXN7L3	Ssm	16	116	13.8%	cbioportal
17	BTNL3	Ssm	16	116	13.8%	cbioportal
18	C2ORF78	Ssm	16	116	13.8%	cbioportal
19	CABLES2	Ssm	16	116	13.8%	cbioportal
20	CAPN9	Ssm	16	116	13.8%	cbioportal
21	DUSP16	Ssm	16	116	13.8%	cbioportal
22	EXOC3L4	Ssm	16	116	13.8%	cbioportal
23	GABRQ	Ssm	16	116	13.8%	cbioportal
24	GRM1	Ssm	16	116	13.8%	cbioportal
25	IFNGR2	Ssm	16	116	13.8%	cbioportal
27	MUC4	Ssm	16	116	13.8%	cbioportal
28	MYT1	Ssm	16	116	13.8%	cbioportal
29	NOTCH3	Ssm	16	116	13.8%	cbioportal
30	NPR2	Ssm	16	116	13.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Carcinoma (MSK, NPJ Precis Oncol 2025) brca_msk_2025MSK

527 cases with simple somatic mutation data · 527 cases total · 2026-01-20 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	316	527	60%	cbioportal
2	TP53	Ssm	288	527	54.6%	cbioportal
3	CDH1	Ssm	173	527	32.8%	cbioportal
4	KMT2C	Ssm	147	527	27.9%	cbioportal
5	KMT2D	Ssm	108	527	20.5%	cbioportal
6	NF1	Ssm	103	527	19.5%	cbioportal
7	ARID1A	Ssm	92	527	17.5%	cbioportal
8	FAT1	Ssm	89	527	16.9%	cbioportal
9	SPEN	Ssm	88	527	16.7%	cbioportal
10	MAP3K1	Ssm	87	527	16.5%	cbioportal
12	ZFHX3	Ssm	73	488	15%	cbioportal
11	PTEN	Ssm	77	527	14.6%	cbioportal
25	KMT2B	Ssm	57	407	14%	cbioportal
13	FOXA1	Ssm	72	527	13.7%	cbioportal
21	MGA	Ssm	66	488	13.5%	cbioportal
14	NCOR1	Ssm	71	527	13.5%	cbioportal
15	BRCA2	Ssm	70	527	13.3%	cbioportal
18	GATA3	Ssm	69	527	13.1%	cbioportal
16	ATM	Ssm	69	527	13.1%	cbioportal
17	ESR1	Ssm	69	527	13.1%	cbioportal
19	KMT2A	Ssm	68	527	12.9%	cbioportal
20	TBX3	Ssm	67	527	12.7%	cbioportal
22	ATRX	Ssm	61	527	11.6%	cbioportal
23	APC	Ssm	60	527	11.4%	cbioportal
24	ATR	Ssm	59	527	11.2%	cbioportal
27	ROS1	Ssm	54	527	10.2%	cbioportal
28	SETD2	Ssm	54	527	10.2%	cbioportal
26	RB1	Ssm	54	527	10.2%	cbioportal
29	ARID1B	Ssm	53	527	10.1%	cbioportal
30	NOTCH4	Ssm	53	527	10.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-20

Breast Invasive Carcinoma TCGA-BRCATCGA

1,098 cases with simple somatic mutation data · 1,098 cases total · Data Release 46.0 · mapped to Breast Invasive Carcinoma, NOS ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	OBSCN	Ssm	806	1,098	73.4%	gdc
2	PIK3C2B	Ssm	804	1,098	73.2%	gdc
5	USH2A	Ssm	803	1,098	73.1%	gdc
4	NFASC	Ssm	803	1,098	73.1%	gdc
6	MDM4	Ssm	803	1,098	73.1%	gdc
7	LRRN2	Ssm	803	1,098	73.1%	gdc
3	NID1	Ssm	803	1,098	73.1%	gdc
8	PLEKHA6	Ssm	802	1,098	73%	gdc
9	PPP1R15B	Ssm	801	1,098	73%	gdc
12	RYR2	Ssm	800	1,098	72.9%	gdc
10	CDK18	Ssm	800	1,098	72.9%	gdc
11	ASPM	Ssm	800	1,098	72.9%	gdc
17	TMEM81	Ssm	799	1,098	72.8%	gdc
18	TMCC2	Ssm	799	1,098	72.8%	gdc
14	CHI3L1	Ssm	799	1,098	72.8%	gdc
19	CNTN2	Ssm	799	1,098	72.8%	gdc
20	DSTYK	Ssm	799	1,098	72.8%	gdc
13	EXOC8	Ssm	799	1,098	72.8%	gdc
15	LYST	Ssm	799	1,098	72.8%	gdc
16	SLC35F3	Ssm	799	1,098	72.8%	gdc
21	RBBP5	Ssm	798	1,098	72.7%	gdc
24	BLACAT1	Ssm	798	1,098	72.7%	gdc
25	ZC3H11A	Ssm	798	1,098	72.7%	gdc
26	KISS1	Ssm	798	1,098	72.7%	gdc
27	ATP2B4	Ssm	798	1,098	72.7%	gdc
28	LEMD1	Ssm	798	1,098	72.7%	gdc
29	RAB29	Ssm	798	1,098	72.7%	gdc
30	NUAK2	Ssm	798	1,098	72.7%	gdc
22	GNPAT	Ssm	798	1,098	72.7%	gdc
23	GOLT1A	Ssm	798	1,098	72.7%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Breast Invasive Carcinoma (British Columbia, Nature 2012) brca_bccrcBritish Columbia

65 cases with simple somatic mutation data · 65 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	35	65	53.8%	cbioportal
2	PIK3CA	Ssm	7	65	10.8%	cbioportal
3	MYO3A	Ssm	6	65	9.2%	cbioportal
4	USH2A	Ssm	6	65	9.2%	cbioportal
5	PTEN	Ssm	5	65	7.7%	cbioportal
12	SYNE1	Ssm	4	65	6.2%	cbioportal
11	RB1	Ssm	4	65	6.2%	cbioportal
10	MDN1	Ssm	4	65	6.2%	cbioportal
9	LRP2	Ssm	4	65	6.2%	cbioportal
8	COL6A3	Ssm	4	65	6.2%	cbioportal
7	ATR	Ssm	4	65	6.2%	cbioportal
6	ADGRG4	Ssm	4	65	6.2%	cbioportal
15	ZNF142	Ssm	4	65	6.2%	cbioportal
13	TTN	Ssm	4	65	6.2%	cbioportal
14	UBR5	Ssm	4	65	6.2%	cbioportal
28	KATNIP	Ssm	3	65	4.6%	cbioportal
32	NELL1	Ssm	3	65	4.6%	cbioportal
16	ADGRL2	Ssm	3	65	4.6%	cbioportal
17	ARHGAP5	Ssm	3	65	4.6%	cbioportal
18	BRCA2	Ssm	3	65	4.6%	cbioportal
19	CELSR1	Ssm	3	65	4.6%	cbioportal
20	CEP192	Ssm	3	65	4.6%	cbioportal
21	DLG5	Ssm	3	65	4.6%	cbioportal
22	DNAH5	Ssm	3	65	4.6%	cbioportal
23	EMSY	Ssm	3	65	4.6%	cbioportal
24	FMN2	Ssm	3	65	4.6%	cbioportal
25	GH1	Ssm	3	65	4.6%	cbioportal
26	HECW1	Ssm	3	65	4.6%	cbioportal
27	HRNR	Ssm	3	65	4.6%	cbioportal
29	LAMA2	Ssm	3	65	4.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Invasive Carcinoma (Broad, Nature 2012) brca_broadBroad

103 cases with simple somatic mutation data · 103 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	28	103	27.2%	cbioportal
2	TP53	Ssm	28	103	27.2%	cbioportal
3	TTN	Ssm	12	103	11.7%	cbioportal
4	KMT2C	Ssm	7	103	6.8%	cbioportal
7	MUC16	Ssm	6	103	5.8%	cbioportal
6	FLG	Ssm	6	103	5.8%	cbioportal
5	AKT1	Ssm	6	103	5.8%	cbioportal
8	MUC2	Ssm	6	103	5.8%	cbioportal
9	DMD	Ssm	5	103	4.9%	cbioportal
24	SI	Ssm	4	103	3.9%	cbioportal
23	SCN3A	Ssm	4	103	3.9%	cbioportal
26	SYNE1	Ssm	4	103	3.9%	cbioportal
22	RYR3	Ssm	4	103	3.9%	cbioportal
16	DNAH8	Ssm	4	103	3.9%	cbioportal
17	DST	Ssm	4	103	3.9%	cbioportal
18	GATA3	Ssm	4	103	3.9%	cbioportal
19	HMCN1	Ssm	4	103	3.9%	cbioportal
20	LRP1B	Ssm	4	103	3.9%	cbioportal
21	RYR2	Ssm	4	103	3.9%	cbioportal
25	SRRM2	Ssm	4	103	3.9%	cbioportal
15	CSMD3	Ssm	4	103	3.9%	cbioportal
14	CBFB	Ssm	4	103	3.9%	cbioportal
13	CACNA1E	Ssm	4	103	3.9%	cbioportal
12	ATM	Ssm	4	103	3.9%	cbioportal
11	AGRN	Ssm	4	103	3.9%	cbioportal
10	ADAMTS7	Ssm	4	103	3.9%	cbioportal
27	ACE	Ssm	3	103	2.9%	cbioportal
30	AHNAK	Ssm	3	103	2.9%	cbioportal
29	ADGRG4	Ssm	3	103	2.9%	cbioportal
28	ADAMTS20	Ssm	3	103	2.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Invasive Carcinoma (Sanger, Nature 2012) brca_sangerSanger

100 cases with simple somatic mutation data · 100 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	37	100	37%	cbioportal
2	PIK3CA	Ssm	30	100	30%	cbioportal
3	TTN	Ssm	26	100	26%	cbioportal
4	GATA3	Ssm	15	100	15%	cbioportal
5	KMT2C	Ssm	11	100	11%	cbioportal
6	MUC16	Ssm	10	100	10%	cbioportal
7	CDH1	Ssm	8	100	8%	cbioportal
10	SYNE1	Ssm	7	100	7%	cbioportal
8	BIRC6	Ssm	7	100	7%	cbioportal
9	FSIP2	Ssm	7	100	7%	cbioportal
11	CSMD1	Ssm	6	100	6%	cbioportal
12	DNAH11	Ssm	6	100	6%	cbioportal
17	VPS13C	Ssm	6	100	6%	cbioportal
16	STAB2	Ssm	6	100	6%	cbioportal
15	NCOR1	Ssm	6	100	6%	cbioportal
14	MAP3K1	Ssm	6	100	6%	cbioportal
13	DST	Ssm	6	100	6%	cbioportal
20	ARID1B	Ssm	5	100	5%	cbioportal
19	AKT1	Ssm	5	100	5%	cbioportal
18	ADGRG4	Ssm	5	100	5%	cbioportal
23	HERC1	Ssm	5	100	5%	cbioportal
25	LRP2	Ssm	5	100	5%	cbioportal
26	MAP2K4	Ssm	5	100	5%	cbioportal
27	NBAS	Ssm	5	100	5%	cbioportal
28	PRRC2B	Ssm	5	100	5%	cbioportal
29	TENM1	Ssm	5	100	5%	cbioportal
21	BRCA2	Ssm	5	100	5%	cbioportal
22	DIDO1	Ssm	5	100	5%	cbioportal
24	HYDIN2	Ssm	5	100	5%	cbioportal
30	AHNAK	Ssm	4	100	4%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Invasive Carcinoma (TCGA, Cell 2015) brca_tcga_pub2015TCGA

817 cases with simple somatic mutation data · 818 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	282	817	34.5%	cbioportal
2	TP53	Ssm	280	817	34.3%	cbioportal
3	TTN	Ssm	135	817	16.5%	cbioportal
4	CDH1	Ssm	107	817	13.1%	cbioportal
5	GATA3	Ssm	96	817	11.8%	cbioportal
6	MUC16	Ssm	71	817	8.7%	cbioportal
7	MAP3K1	Ssm	69	817	8.4%	cbioportal
8	KMT2C	Ssm	62	817	7.6%	cbioportal
9	MUC4	Ssm	50	817	6.1%	cbioportal
10	MUC12	Ssm	47	817	5.8%	cbioportal
11	PTEN	Ssm	42	817	5.1%	cbioportal
13	NCOA3	Ssm	41	817	5%	cbioportal
12	FLG	Ssm	41	817	5%	cbioportal
14	SYNE1	Ssm	41	817	5%	cbioportal
15	NCOR1	Ssm	38	817	4.7%	cbioportal
16	USH2A	Ssm	38	817	4.7%	cbioportal
17	NEB	Ssm	37	817	4.5%	cbioportal
18	RYR2	Ssm	36	817	4.4%	cbioportal
19	ARID1A	Ssm	33	817	4%	cbioportal
20	DMD	Ssm	33	817	4%	cbioportal
21	RYR3	Ssm	33	817	4%	cbioportal
22	MUC5B	Ssm	32	817	3.9%	cbioportal
23	SPEN	Ssm	32	817	3.9%	cbioportal
24	RUNX1	Ssm	31	817	3.8%	cbioportal
30	SPTA1	Ssm	30	817	3.7%	cbioportal
25	FAT3	Ssm	30	817	3.7%	cbioportal
26	FOXA1	Ssm	30	817	3.7%	cbioportal
27	HMCN1	Ssm	30	817	3.7%	cbioportal
28	LRP2	Ssm	30	817	3.7%	cbioportal
29	MAP2K4	Ssm	30	817	3.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Invasive Carcinoma (TCGA, Firehose Legacy) brca_tcgaTCGA

982 cases with simple somatic mutation data · 1,108 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	319	982	32.5%	cbioportal
2	TP53	Ssm	301	982	30.7%	cbioportal
3	TTN	Ssm	161	982	16.4%	cbioportal
4	CDH1	Ssm	112	982	11.4%	cbioportal
5	GATA3	Ssm	97	982	9.9%	cbioportal
6	MUC16	Ssm	74	982	7.5%	cbioportal
7	MAP3K1	Ssm	71	982	7.2%	cbioportal
8	KMT2C	Ssm	70	982	7.1%	cbioportal
9	MUC12	Ssm	54	982	5.5%	cbioportal
10	MUC4	Ssm	53	982	5.4%	cbioportal
12	USH2A	Ssm	45	982	4.6%	cbioportal
11	FLG	Ssm	45	982	4.6%	cbioportal
13	SYNE1	Ssm	43	982	4.4%	cbioportal
14	RYR2	Ssm	42	982	4.3%	cbioportal
15	NCOR1	Ssm	40	982	4.1%	cbioportal
16	DMD	Ssm	39	982	4%	cbioportal
19	RYR3	Ssm	37	982	3.8%	cbioportal
20	SYNE2	Ssm	37	982	3.8%	cbioportal
18	NEB	Ssm	37	982	3.8%	cbioportal
17	HMCN1	Ssm	37	982	3.8%	cbioportal
21	MUC5B	Ssm	36	982	3.7%	cbioportal
22	FAT3	Ssm	35	982	3.6%	cbioportal
23	HUWE1	Ssm	35	982	3.6%	cbioportal
24	PTEN	Ssm	35	982	3.6%	cbioportal
26	LRP2	Ssm	34	982	3.5%	cbioportal
25	HRNR	Ssm	34	982	3.5%	cbioportal
27	OBSCN	Ssm	33	982	3.4%	cbioportal
30	ZFHX4	Ssm	33	982	3.4%	cbioportal
29	SPTA1	Ssm	33	982	3.4%	cbioportal
28	SPEN	Ssm	33	982	3.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Invasive Carcinoma (TCGA, Nature 2012) brca_tcga_pubTCGA

507 cases with simple somatic mutation data · 825 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	190	507	37.5%	cbioportal
2	PIK3CA	Ssm	179	507	35.3%	cbioportal
3	TTN	Ssm	75	507	14.8%	cbioportal
4	GATA3	Ssm	54	507	10.7%	cbioportal
5	MAP3K1	Ssm	39	507	7.7%	cbioportal
6	KMT2C	Ssm	38	507	7.5%	cbioportal
7	MUC16	Ssm	38	507	7.5%	cbioportal
8	CDH1	Ssm	34	507	6.7%	cbioportal
9	USH2A	Ssm	27	507	5.3%	cbioportal
10	BRCA2	Ssm	24	507	4.7%	cbioportal
11	RYR2	Ssm	23	507	4.5%	cbioportal
12	FLG	Ssm	22	507	4.3%	cbioportal
13	MAP2K4	Ssm	21	507	4.1%	cbioportal
14	ATM	Ssm	20	507	3.9%	cbioportal
15	FAT3	Ssm	20	507	3.9%	cbioportal
17	NEB	Ssm	19	507	3.7%	cbioportal
18	OBSCN	Ssm	19	507	3.7%	cbioportal
16	HMCN1	Ssm	19	507	3.7%	cbioportal
20	MUC17	Ssm	18	507	3.6%	cbioportal
21	PTEN	Ssm	18	507	3.6%	cbioportal
22	RUNX1	Ssm	18	507	3.6%	cbioportal
19	BRCA1	Ssm	18	507	3.6%	cbioportal
26	SYNE1	Ssm	17	507	3.4%	cbioportal
25	NCOR1	Ssm	17	507	3.4%	cbioportal
23	LRP2	Ssm	17	507	3.4%	cbioportal
24	MUC4	Ssm	17	507	3.4%	cbioportal
28	SYNE2	Ssm	16	507	3.2%	cbioportal
27	CSMD1	Ssm	16	507	3.2%	cbioportal
29	ZFHX4	Ssm	16	507	3.2%	cbioportal
30	APOB	Ssm	15	507	3%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Breast Invasive Carcinoma (TCGA, PanCancer Atlas) brca_tcga_pan_can_atlas_2018TCGA

1,066 cases with simple somatic mutation data · 1,084 cases total · 2026-06-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	TP53	Ssm	347	1,066	32.6%	cbioportal
1	PIK3CA	Ssm	347	1,066	32.6%	cbioportal
3	TTN	Ssm	187	1,066	17.5%	cbioportal
4	CDH1	Ssm	130	1,066	12.2%	cbioportal
5	GATA3	Ssm	127	1,066	11.9%	cbioportal
6	MUC16	Ssm	109	1,066	10.2%	cbioportal
7	KMT2C	Ssm	99	1,066	9.3%	cbioportal
8	MAP3K1	Ssm	89	1,066	8.3%	cbioportal
9	FLG	Ssm	66	1,066	6.2%	cbioportal
10	RYR2	Ssm	66	1,066	6.2%	cbioportal
11	SYNE1	Ssm	63	1,066	5.9%	cbioportal
12	USH2A	Ssm	62	1,066	5.8%	cbioportal
13	HMCN1	Ssm	61	1,066	5.7%	cbioportal
14	PTEN	Ssm	58	1,066	5.4%	cbioportal
15	SPTA1	Ssm	54	1,066	5.1%	cbioportal
16	ZFHX4	Ssm	53	1,066	5%	cbioportal
17	NEB	Ssm	52	1,066	4.9%	cbioportal
18	DMD	Ssm	51	1,066	4.8%	cbioportal
19	NCOR1	Ssm	50	1,066	4.7%	cbioportal
21	SYNE2	Ssm	46	1,066	4.3%	cbioportal
20	MUC4	Ssm	46	1,066	4.3%	cbioportal
22	MUC17	Ssm	45	1,066	4.2%	cbioportal
23	CSMD3	Ssm	44	1,066	4.1%	cbioportal
25	RYR3	Ssm	44	1,066	4.1%	cbioportal
24	OBSCN	Ssm	44	1,066	4.1%	cbioportal
26	FAT3	Ssm	43	1,066	4%	cbioportal
28	MAP2K4	Ssm	42	1,066	3.9%	cbioportal
27	CSMD1	Ssm	42	1,066	3.9%	cbioportal
30	PKHD1L1	Ssm	41	1,066	3.8%	cbioportal
29	MACF1	Ssm	41	1,066	3.8%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Burkitt Lymphoma Genome Sequencing Project CGCI-BLGSPCGCI

263 cases with simple somatic mutation data · 324 cases total · Data Release 46.0 · mapped to Burkitt Lymphoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SHCBP1	Ssm	73	263	27.8%	gdc
2	VPS35	Ssm	67	263	25.5%	gdc
4	TPTE	Ssm	66	263	25.1%	gdc
3	ORC6	Ssm	66	263	25.1%	gdc
5	MYLK3	Ssm	62	263	23.6%	gdc
6	IGLL5	Ssm	60	263	22.8%	gdc
7	C16orf87	Ssm	56	263	21.3%	gdc
8	PTPRC	Ssm	50	263	19%	gdc
9	ZNF280B	Ssm	48	263	18.3%	gdc
10	ZNF280A	Ssm	47	263	17.9%	gdc
11	GGTLC2	Ssm	46	263	17.5%	gdc
12	PRAME	Ssm	46	263	17.5%	gdc
13	MYC	Ssm	45	263	17.1%	gdc
14	OR11H12	Ssm	44	263	16.7%	gdc
15	ATP6V1G3	Ssm	43	263	16.3%	gdc
16	SLAMF6	Ssm	43	263	16.3%	gdc
17	ENSA	Ssm	40	263	15.2%	gdc
18	CD84	Ssm	40	263	15.2%	gdc
26	C1orf56	Ssm	39	263	14.8%	gdc
19	GOLPH3L	Ssm	39	263	14.8%	gdc
20	MLLT11	Ssm	39	263	14.8%	gdc
24	TARS2	Ssm	39	263	14.8%	gdc
23	GABPB2	Ssm	39	263	14.8%	gdc
21	CDC42SE1	Ssm	39	263	14.8%	gdc
22	ADAMTSL4	Ssm	39	263	14.8%	gdc
25	CD48	Ssm	39	263	14.8%	gdc
29	ECM1	Ssm	38	263	14.4%	gdc
27	ANXA9	Ssm	38	263	14.4%	gdc
28	MCL1	Ssm	38	263	14.4%	gdc
30	CTSK	Ssm	38	263	14.4%	gdc

Data updated 23 days agoSource updated Data Release 46.0

CDDP Integrative Analysis of Lung Adenocarcinoma (Phase 2) CDDP_EAGLE-1CDDP_EAGLE

50 cases with simple somatic mutation data · 50 cases total · Data Release 46.0 · mapped to Lung Adenocarcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PRPF3	Ssm	35	50	70%	gdc
2	SPTA1	Ssm	35	50	70%	gdc
13	TARS2	Ssm	34	50	68%	gdc
3	ECM1	Ssm	34	50	68%	gdc
4	SETDB1	Ssm	34	50	68%	gdc
5	CA14	Ssm	34	50	68%	gdc
6	PRUNE1	Ssm	34	50	68%	gdc
7	ADAMTSL4	Ssm	34	50	68%	gdc
8	PIP5K1A	Ssm	34	50	68%	gdc
9	MRPS21	Ssm	34	50	68%	gdc
10	ANP32E	Ssm	34	50	68%	gdc
11	RPRD2	Ssm	34	50	68%	gdc
12	GBA	Ssm	34	50	68%	gdc
14	C1orf54	Ssm	34	50	68%	gdc
15	SYT11	Ssm	34	50	68%	gdc
16	CTXND2	Ssm	34	50	68%	gdc
17	MTX1	Ssm	34	50	68%	gdc
18	CIART	Ssm	34	50	68%	gdc
19	TTN	Ssm	34	50	68%	gdc
20	APH1A	Ssm	34	50	68%	gdc
21	CERS2	Ssm	34	50	68%	gdc
22	MSTO1	Ssm	33	50	66%	gdc
28	GON4L	Ssm	33	50	66%	gdc
29	SEMA6C	Ssm	33	50	66%	gdc
26	MLLT11	Ssm	33	50	66%	gdc
53	PKLR	Ssm	33	50	66%	gdc
27	POGZ	Ssm	33	50	66%	gdc
25	CLK2	Ssm	33	50	66%	gdc
24	SCAMP3	Ssm	33	50	66%	gdc
23	ANXA9	Ssm	33	50	66%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Center for Cancer Genomics (CCG) Cancers of Unknown Primary Project (CUPP) CCG-CUPPCCG

28 cases with simple somatic mutation data · 272 cases total · Data Release 46.0 · mapped to Malignant Neoplasm of Unknown Primary ALIAS

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SEMA4A	Ssm	17	28	60.7%	gdc
20	RHBG	Ssm	16	28	57.1%	gdc
4	SEMA6C	Ssm	16	28	57.1%	gdc
5	PRUNE1	Ssm	16	28	57.1%	gdc
2	MLLT11	Ssm	16	28	57.1%	gdc
6	CDC42SE1	Ssm	16	28	57.1%	gdc
3	CREB3L4	Ssm	16	28	57.1%	gdc
7	NES	Ssm	16	28	57.1%	gdc
8	BNIPL	Ssm	16	28	57.1%	gdc
10	TNFAIP8L2	Ssm	16	28	57.1%	gdc
9	PIP5K1A	Ssm	16	28	57.1%	gdc
11	SCNM1	Ssm	16	28	57.1%	gdc
12	LYSMD1	Ssm	16	28	57.1%	gdc
13	INSRR	Ssm	16	28	57.1%	gdc
14	PSMD4	Ssm	16	28	57.1%	gdc
15	BCAN	Ssm	16	28	57.1%	gdc
16	KBTBD11	Ssm	16	28	57.1%	gdc
17	VPS72	Ssm	16	28	57.1%	gdc
18	TMOD4	Ssm	16	28	57.1%	gdc
19	C1orf56	Ssm	16	28	57.1%	gdc
24	CLK2	Ssm	15	28	53.6%	gdc
21	LRRC71	Ssm	15	28	53.6%	gdc
22	LINGO4	Ssm	15	28	53.6%	gdc
23	SCAMP3	Ssm	15	28	53.6%	gdc
25	HAPLN2	Ssm	15	28	53.6%	gdc
26	MCL1	Ssm	15	28	53.6%	gdc
27	SPRR4	Ssm	15	28	53.6%	gdc
28	GLMP	Ssm	15	28	53.6%	gdc
29	GOLPH3L	Ssm	15	28	53.6%	gdc
30	ECM1	Ssm	15	28	53.6%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma TCGA-CESCTCGA

306 cases with simple somatic mutation data · 307 cases total · Data Release 46.0 · mapped to Cervical Carcinoma CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	248	306	81%	gdc
3	SI	Ssm	228	306	74.5%	gdc
2	TNIK	Ssm	228	306	74.5%	gdc
10	FNDC3B	Ssm	226	306	73.9%	gdc
9	BCHE	Ssm	226	306	73.9%	gdc
8	SLC7A14	Ssm	226	306	73.9%	gdc
5	ZBBX	Ssm	226	306	73.9%	gdc
7	CLDN16	Ssm	226	306	73.9%	gdc
6	SPATA16	Ssm	226	306	73.9%	gdc
4	TBL1XR1	Ssm	226	306	73.9%	gdc
18	ABCC5	Ssm	225	306	73.5%	gdc
17	PRKCI	Ssm	225	306	73.5%	gdc
16	LRRC31	Ssm	225	306	73.5%	gdc
14	BCL6	Ssm	225	306	73.5%	gdc
13	ATP13A5	Ssm	225	306	73.5%	gdc
12	ACTRT3	Ssm	225	306	73.5%	gdc
11	SKIL	Ssm	225	306	73.5%	gdc
15	MYNN	Ssm	225	306	73.5%	gdc
27	LRRC34	Ssm	225	306	73.5%	gdc
26	PEX5L	Ssm	225	306	73.5%	gdc
25	WDR49	Ssm	225	306	73.5%	gdc
24	TP63	Ssm	225	306	73.5%	gdc
23	LPP	Ssm	225	306	73.5%	gdc
22	CLDN11	Ssm	225	306	73.5%	gdc
21	P3H2	Ssm	225	306	73.5%	gdc
20	PLD1	Ssm	225	306	73.5%	gdc
19	SEC62	Ssm	225	306	73.5%	gdc
28	TMEM207	Ssm	224	306	73.2%	gdc
30	PHC3	Ssm	224	306	73.2%	gdc
29	SAMD7	Ssm	224	306	73.2%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Cervical Squamous Cell Carcinoma and Endocervical Adenocarcinoma (TCGA, Firehose Legacy) cesc_tcgaTCGA

194 cases with simple somatic mutation data · 310 cases total · 2026-01-05 · mapped to Cervical Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	62	194	32%	cbioportal
2	PIK3CA	Ssm	53	194	27.3%	cbioportal
3	MUC4	Ssm	37	194	19.1%	cbioportal
4	KMT2C	Ssm	29	194	14.9%	cbioportal
5	MUC16	Ssm	28	194	14.4%	cbioportal
6	ADGRV1	Ssm	26	194	13.4%	cbioportal
7	SYNE1	Ssm	23	194	11.9%	cbioportal
8	KMT2D	Ssm	22	194	11.3%	cbioportal
9	EP300	Ssm	21	194	10.8%	cbioportal
10	RYR2	Ssm	21	194	10.8%	cbioportal
11	DMD	Ssm	20	194	10.3%	cbioportal
13	SYNE2	Ssm	20	194	10.3%	cbioportal
12	FLG	Ssm	20	194	10.3%	cbioportal
14	FBXW7	Ssm	19	194	9.8%	cbioportal
15	USH2A	Ssm	18	194	9.3%	cbioportal
16	OBSCN	Ssm	17	194	8.8%	cbioportal
22	MUC5B	Ssm	16	194	8.2%	cbioportal
20	MDN1	Ssm	16	194	8.2%	cbioportal
18	HMCN1	Ssm	16	194	8.2%	cbioportal
19	MACF1	Ssm	16	194	8.2%	cbioportal
17	HLA-A	Ssm	16	194	8.2%	cbioportal
21	MUC12	Ssm	16	194	8.2%	cbioportal
25	ARID1A	Ssm	15	194	7.7%	cbioportal
29	PTEN	Ssm	15	194	7.7%	cbioportal
27	NEB	Ssm	15	194	7.7%	cbioportal
26	DNAH6	Ssm	15	194	7.7%	cbioportal
24	APOB	Ssm	15	194	7.7%	cbioportal
23	ABCA12	Ssm	15	194	7.7%	cbioportal
28	PCLO	Ssm	15	194	7.7%	cbioportal
30	CREBBP	Ssm	14	194	7.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Cervical Squamous Cell Carcinoma (TCGA GDC, 2025) cesc_tcga_gdcTCGA GDC

289 cases with simple somatic mutation data · 309 cases total · 2026-01-13 · mapped to Cervical Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	87	289	30.1%	cbioportal
2	PIK3CA	Ssm	81	289	28%	cbioportal
3	KMT2C	Ssm	54	289	18.7%	cbioportal
4	MUC16	Ssm	49	289	17%	cbioportal
5	KMT2D	Ssm	39	289	13.5%	cbioportal
6	FLG	Ssm	37	289	12.8%	cbioportal
7	EP300	Ssm	36	289	12.5%	cbioportal
8	DMD	Ssm	35	289	12.1%	cbioportal
9	SYNE1	Ssm	35	289	12.1%	cbioportal
10	FBXW7	Ssm	34	289	11.8%	cbioportal
11	LRP1B	Ssm	33	289	11.4%	cbioportal
12	RYR2	Ssm	32	289	11.1%	cbioportal
13	DST	Ssm	31	289	10.7%	cbioportal
15	USH2A	Ssm	29	289	10%	cbioportal
14	ADGRV1	Ssm	29	289	10%	cbioportal
17	MUC17	Ssm	28	289	9.7%	cbioportal
16	HUWE1	Ssm	28	289	9.7%	cbioportal
20	NEB	Ssm	24	289	8.3%	cbioportal
21	SYNE2	Ssm	24	289	8.3%	cbioportal
18	LRP2	Ssm	24	289	8.3%	cbioportal
19	NAV3	Ssm	24	289	8.3%	cbioportal
22	PCLO	Ssm	23	289	8%	cbioportal
28	MUC5B	Ssm	22	289	7.6%	cbioportal
26	HMCN1	Ssm	22	289	7.6%	cbioportal
27	MDN1	Ssm	22	289	7.6%	cbioportal
24	DNAH2	Ssm	22	289	7.6%	cbioportal
23	CREBBP	Ssm	22	289	7.6%	cbioportal
25	FAT1	Ssm	22	289	7.6%	cbioportal
30	HYDIN	Ssm	21	289	7.3%	cbioportal
29	CSMD1	Ssm	21	289	7.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Cervical Squamous Cell Carcinoma (TCGA, PanCancer Atlas) cesc_tcga_pan_can_atlas_2018TCGA

291 cases with simple somatic mutation data · 297 cases total · 2026-06-05 · mapped to Cervical Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	91	291	31.3%	cbioportal
2	PIK3CA	Ssm	83	291	28.5%	cbioportal
3	KMT2C	Ssm	54	291	18.6%	cbioportal
4	MUC4	Ssm	50	291	17.2%	cbioportal
5	MUC16	Ssm	48	291	16.5%	cbioportal
6	KMT2D	Ssm	41	291	14.1%	cbioportal
7	FLG	Ssm	38	291	13.1%	cbioportal
8	DMD	Ssm	37	291	12.7%	cbioportal
9	SYNE1	Ssm	37	291	12.7%	cbioportal
12	RYR2	Ssm	35	291	12%	cbioportal
11	FBXW7	Ssm	35	291	12%	cbioportal
10	EP300	Ssm	35	291	12%	cbioportal
13	LRP1B	Ssm	33	291	11.3%	cbioportal
14	USH2A	Ssm	33	291	11.3%	cbioportal
15	ADGRV1	Ssm	30	291	10.3%	cbioportal
16	MUC17	Ssm	30	291	10.3%	cbioportal
17	HUWE1	Ssm	28	291	9.6%	cbioportal
18	CSMD1	Ssm	27	291	9.3%	cbioportal
19	NEB	Ssm	26	291	8.9%	cbioportal
20	NAV3	Ssm	25	291	8.6%	cbioportal
24	PCLO	Ssm	24	291	8.2%	cbioportal
21	AHNAK2	Ssm	24	291	8.2%	cbioportal
22	HMCN1	Ssm	24	291	8.2%	cbioportal
25	SYNE2	Ssm	24	291	8.2%	cbioportal
23	LRP2	Ssm	24	291	8.2%	cbioportal
26	CREBBP	Ssm	23	291	7.9%	cbioportal
28	DST	Ssm	23	291	7.9%	cbioportal
30	FAT1	Ssm	23	291	7.9%	cbioportal
29	EYS	Ssm	23	291	7.9%	cbioportal
27	DNAH2	Ssm	23	291	7.9%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Cholangiocarcinoma TCGA-CHOLTCGA

51 cases with simple somatic mutation data · 51 cases total · Data Release 46.0 · mapped to Cholangiocarcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ARID1A	Ssm	43	51	84.3%	gdc
3	MRTO4	Ssm	42	51	82.4%	gdc
6	HTR6	Ssm	42	51	82.4%	gdc
5	TMCO4	Ssm	42	51	82.4%	gdc
4	KLHDC7A	Ssm	42	51	82.4%	gdc
2	TAS1R2	Ssm	42	51	82.4%	gdc
16	AADACL4	Ssm	41	51	80.4%	gdc
7	AL049569.3	Ssm	41	51	80.4%	gdc
29	THAP3	Ssm	41	51	80.4%	gdc
21	VWA5B1	Ssm	41	51	80.4%	gdc
20	LACTBL1	Ssm	41	51	80.4%	gdc
19	DNAJC11	Ssm	41	51	80.4%	gdc
18	PITHD1	Ssm	41	51	80.4%	gdc
17	HTR1D	Ssm	41	51	80.4%	gdc
15	NBL1	Ssm	41	51	80.4%	gdc
14	OTUD3	Ssm	41	51	80.4%	gdc
30	RPL11	Ssm	41	51	80.4%	gdc
13	PADI6	Ssm	41	51	80.4%	gdc
12	RPL22	Ssm	41	51	80.4%	gdc
11	CDA	Ssm	41	51	80.4%	gdc
10	AADACL3	Ssm	41	51	80.4%	gdc
9	SH2D5	Ssm	41	51	80.4%	gdc
8	KDM1A	Ssm	41	51	80.4%	gdc
28	PRAMEF27	Ssm	41	51	80.4%	gdc
27	PADI4	Ssm	41	51	80.4%	gdc
26	PRAMEF12	Ssm	41	51	80.4%	gdc
25	ACTL8	Ssm	41	51	80.4%	gdc
24	CAMK2N1	Ssm	41	51	80.4%	gdc
23	TEX46	Ssm	41	51	80.4%	gdc
22	EIF4G3	Ssm	41	51	80.4%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Cholangiocarcinoma (ICGC, Cancer Discov 2017) chol_icgc_2017ICGC

417 cases with simple somatic mutation data · 489 cases total · 2026-01-06 · mapped to Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	147	417	35.3%	cbioportal
2	ARID1A	Ssm	80	417	19.2%	cbioportal
3	KRAS	Ssm	76	417	18.2%	cbioportal
4	SMAD4	Ssm	60	417	14.4%	cbioportal
5	SYNE1	Ssm	46	417	11%	cbioportal
6	MUC16	Ssm	44	417	10.6%	cbioportal
7	BAP1	Ssm	39	417	9.4%	cbioportal
8	LRP1B	Ssm	39	417	9.4%	cbioportal
9	FSIP2	Ssm	37	417	8.9%	cbioportal
11	PCLO	Ssm	36	417	8.6%	cbioportal
10	EPHA2	Ssm	36	417	8.6%	cbioportal
13	SACS	Ssm	34	417	8.2%	cbioportal
12	CSMD3	Ssm	34	417	8.2%	cbioportal
14	APC	Ssm	33	417	7.9%	cbioportal
15	RYR2	Ssm	32	417	7.7%	cbioportal
16	OBSCN	Ssm	31	417	7.4%	cbioportal
18	KMT2D	Ssm	30	417	7.2%	cbioportal
17	HMCN1	Ssm	30	417	7.2%	cbioportal
19	ELF3	Ssm	29	417	7%	cbioportal
21	PBRM1	Ssm	29	417	7%	cbioportal
20	KMT2C	Ssm	29	417	7%	cbioportal
23	MUC6	Ssm	28	417	6.7%	cbioportal
22	LRP2	Ssm	28	417	6.7%	cbioportal
24	FAT3	Ssm	27	417	6.5%	cbioportal
25	ARID2	Ssm	25	417	6%	cbioportal
26	ADGRV1	Ssm	24	417	5.8%	cbioportal
27	CSMD1	Ssm	24	417	5.8%	cbioportal
29	PLEC	Ssm	24	417	5.8%	cbioportal
30	SPTA1	Ssm	24	417	5.8%	cbioportal
28	NEB	Ssm	24	417	5.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Cholangiocarcinoma (MSK, Clin Cancer Res 2018) chol_msk_2018MSK

195 cases with simple somatic mutation data · 195 cases total · 2026-04-07 · mapped to Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	48	195	24.6%	cbioportal
2	TP53	Ssm	46	195	23.6%	cbioportal
3	ARID1A	Ssm	40	195	20.5%	cbioportal
4	BAP1	Ssm	26	195	13.3%	cbioportal
5	KRAS	Ssm	23	195	11.8%	cbioportal
6	PBRM1	Ssm	20	195	10.3%	cbioportal
7	SMAD4	Ssm	16	195	8.2%	cbioportal
8	ATM	Ssm	15	195	7.7%	cbioportal
9	KMT2C	Ssm	13	195	6.7%	cbioportal
10	PIK3CA	Ssm	13	195	6.7%	cbioportal
11	RASA1	Ssm	10	195	5.1%	cbioportal
14	NF1	Ssm	9	195	4.6%	cbioportal
12	BRAF	Ssm	9	195	4.6%	cbioportal
13	KMT2D	Ssm	9	195	4.6%	cbioportal
15	TERT	Ssm	8	195	4.1%	cbioportal
16	ERBB3	Ssm	7	195	3.6%	cbioportal
17	NRAS	Ssm	7	195	3.6%	cbioportal
18	SMARCA4	Ssm	6	195	3.1%	cbioportal
23	CTNNB1	Ssm	5	195	2.6%	cbioportal
24	DOT1L	Ssm	5	195	2.6%	cbioportal
25	KMT2A	Ssm	5	195	2.6%	cbioportal
27	SF3B1	Ssm	5	195	2.6%	cbioportal
28	STK11	Ssm	5	195	2.6%	cbioportal
20	ARID1B	Ssm	5	195	2.6%	cbioportal
21	ARID2	Ssm	5	195	2.6%	cbioportal
22	ASXL1	Ssm	5	195	2.6%	cbioportal
19	ABL1	Ssm	5	195	2.6%	cbioportal
26	PTPRS	Ssm	5	195	2.6%	cbioportal
43	ANKRD11	Ssm	3	141	2.1%	cbioportal
48	CSF3R	Ssm	3	141	2.1%	cbioportal

Data updated 22 days agoSource updated 2026-04-07

Cholangiocarcinoma (National Cancer Centre of Singapore, Nat Genet 2013) chol_nccs_2013National Cancer Centre of Singapore

15 cases with simple somatic mutation data · 15 cases total · 2026-01-06 · mapped to Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ARID1A	Ssm	4	15	26.7%	cbioportal
2	BAP1	Ssm	4	15	26.7%	cbioportal
4	KRAS	Ssm	3	15	20%	cbioportal
5	TP53	Ssm	3	15	20%	cbioportal
3	IDH1	Ssm	3	15	20%	cbioportal
6	ADGRG4	Ssm	2	15	13.3%	cbioportal
12	LRRIQ1	Ssm	2	15	13.3%	cbioportal
11	HMCN1	Ssm	2	15	13.3%	cbioportal
10	GPAT4	Ssm	2	15	13.3%	cbioportal
9	CCT8L2	Ssm	2	15	13.3%	cbioportal
8	BRPF3	Ssm	2	15	13.3%	cbioportal
7	ATP10A	Ssm	2	15	13.3%	cbioportal
17	ALDH1L1	Ssm	1	15	6.7%	cbioportal
25	ASAP1	Ssm	1	15	6.7%	cbioportal
24	ARHGEF4	Ssm	1	15	6.7%	cbioportal
23	ARHGAP15	Ssm	1	15	6.7%	cbioportal
22	ARHGAP12	Ssm	1	15	6.7%	cbioportal
21	APOB	Ssm	1	15	6.7%	cbioportal
20	AP1AR	Ssm	1	15	6.7%	cbioportal
19	ANO6	Ssm	1	15	6.7%	cbioportal
18	ANKAR	Ssm	1	15	6.7%	cbioportal
183	SLC36A3	Ssm	1	15	6.7%	cbioportal
13	ACVR2A	Ssm	1	15	6.7%	cbioportal
14	ADAMTS13	Ssm	1	15	6.7%	cbioportal
15	ADGRL4	Ssm	1	15	6.7%	cbioportal
16	AGTPBP1	Ssm	1	15	6.7%	cbioportal
29	BDH1	Ssm	1	15	6.7%	cbioportal
28	ATRN	Ssm	1	15	6.7%	cbioportal
27	ATP8B4	Ssm	1	15	6.7%	cbioportal
26	ASIC3	Ssm	1	15	6.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Cholangiocarcinoma (National University of Singapore, Nat Genet 2012) chol_nus_2012National University of Singapore

8 cases with simple somatic mutation data · 8 cases total · 2026-01-06 · mapped to Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	TP53	Ssm	4	8	50%	cbioportal
1	SMAD4	Ssm	4	8	50%	cbioportal
4	RNF43	Ssm	3	8	37.5%	cbioportal
3	KRAS	Ssm	3	8	37.5%	cbioportal
13	XIRP2	Ssm	2	8	25%	cbioportal
6	KMT2C	Ssm	2	8	25%	cbioportal
7	LAMA2	Ssm	2	8	25%	cbioportal
8	NDC80	Ssm	2	8	25%	cbioportal
5	GNAS	Ssm	2	8	25%	cbioportal
9	PCDHA13	Ssm	2	8	25%	cbioportal
10	PEG3	Ssm	2	8	25%	cbioportal
11	RADIL	Ssm	2	8	25%	cbioportal
12	ROBO2	Ssm	2	8	25%	cbioportal
25	BBS4	Ssm	1	8	12.5%	cbioportal
14	ADAM12	Ssm	1	8	12.5%	cbioportal
15	AFF1	Ssm	1	8	12.5%	cbioportal
16	AGO1	Ssm	1	8	12.5%	cbioportal
17	ALPP	Ssm	1	8	12.5%	cbioportal
18	ANK2	Ssm	1	8	12.5%	cbioportal
19	ANKRD35	Ssm	1	8	12.5%	cbioportal
20	ANO4	Ssm	1	8	12.5%	cbioportal
21	ARAF	Ssm	1	8	12.5%	cbioportal
22	ARID1A	Ssm	1	8	12.5%	cbioportal
23	ARL6IP5	Ssm	1	8	12.5%	cbioportal
24	ASAP3	Ssm	1	8	12.5%	cbioportal
26	BCAS2	Ssm	1	8	12.5%	cbioportal
27	CALML5	Ssm	1	8	12.5%	cbioportal
28	CALN1	Ssm	1	8	12.5%	cbioportal
29	CCDC183	Ssm	1	8	12.5%	cbioportal
30	CCDC97	Ssm	1	8	12.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Cholangiocarcinoma (TCGA, Firehose Legacy) chol_tcgaTCGA

35 cases with simple somatic mutation data · 51 cases total · 2026-01-06 · mapped to Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC4	Ssm	14	35	40%	cbioportal
2	TTN	Ssm	10	35	28.6%	cbioportal
4	PBRM1	Ssm	8	35	22.9%	cbioportal
3	BAP1	Ssm	8	35	22.9%	cbioportal
6	CDC27	Ssm	7	35	20%	cbioportal
5	ANKRD36C	Ssm	7	35	20%	cbioportal
8	MUC2	Ssm	7	35	20%	cbioportal
7	KMT2C	Ssm	7	35	20%	cbioportal
11	TCHH	Ssm	6	35	17.1%	cbioportal
9	DNAH5	Ssm	6	35	17.1%	cbioportal
10	MUC5B	Ssm	6	35	17.1%	cbioportal
23	RYR3	Ssm	5	35	14.3%	cbioportal
24	TP53	Ssm	5	35	14.3%	cbioportal
18	BLTP1	Ssm	5	35	14.3%	cbioportal
12	ABCA13	Ssm	5	35	14.3%	cbioportal
13	ADGRV1	Ssm	5	35	14.3%	cbioportal
14	AHNAK	Ssm	5	35	14.3%	cbioportal
15	ARID1A	Ssm	5	35	14.3%	cbioportal
16	ATM	Ssm	5	35	14.3%	cbioportal
17	BIRC6	Ssm	5	35	14.3%	cbioportal
19	HLA-B	Ssm	5	35	14.3%	cbioportal
20	MUC16	Ssm	5	35	14.3%	cbioportal
21	PLXNA4	Ssm	5	35	14.3%	cbioportal
22	POLE	Ssm	5	35	14.3%	cbioportal
25	AHNAK2	Ssm	4	35	11.4%	cbioportal
26	ANKRD17	Ssm	4	35	11.4%	cbioportal
27	APC	Ssm	4	35	11.4%	cbioportal
28	ARID1B	Ssm	4	35	11.4%	cbioportal
29	CLIP4	Ssm	4	35	11.4%	cbioportal
30	COL6A3	Ssm	4	35	11.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Cholangiocarcinoma (TCGA GDC, 2025) chol_tcga_gdcTCGA GDC

51 cases with simple somatic mutation data · 51 cases total · 2026-01-13 · mapped to Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PBRM1	Ssm	10	51	19.6%	cbioportal
2	ARID1A	Ssm	9	51	17.6%	cbioportal
3	BAP1	Ssm	8	51	15.7%	cbioportal
5	IDH1	Ssm	7	51	13.7%	cbioportal
4	EPHA2	Ssm	7	51	13.7%	cbioportal
6	KRAS	Ssm	5	51	9.8%	cbioportal
9	TP53	Ssm	5	51	9.8%	cbioportal
8	MUC16	Ssm	5	51	9.8%	cbioportal
7	LRP1B	Ssm	5	51	9.8%	cbioportal
10	CHD7	Ssm	4	51	7.8%	cbioportal
11	CSMD3	Ssm	4	51	7.8%	cbioportal
12	DNAH5	Ssm	4	51	7.8%	cbioportal
13	DNAH8	Ssm	4	51	7.8%	cbioportal
14	ELF3	Ssm	4	51	7.8%	cbioportal
15	FGFR2	Ssm	4	51	7.8%	cbioportal
16	KMT2C	Ssm	4	51	7.8%	cbioportal
17	MUC5B	Ssm	4	51	7.8%	cbioportal
18	NEB	Ssm	4	51	7.8%	cbioportal
19	PCLO	Ssm	4	51	7.8%	cbioportal
20	PIK3CA	Ssm	4	51	7.8%	cbioportal
21	TENM1	Ssm	4	51	7.8%	cbioportal
22	ADAM30	Ssm	3	51	5.9%	cbioportal
23	AHNAK	Ssm	3	51	5.9%	cbioportal
24	ALB	Ssm	3	51	5.9%	cbioportal
25	ANK2	Ssm	3	51	5.9%	cbioportal
26	APOB	Ssm	3	51	5.9%	cbioportal
27	BIRC6	Ssm	3	51	5.9%	cbioportal
28	C3	Ssm	3	51	5.9%	cbioportal
29	CTNNA2	Ssm	3	51	5.9%	cbioportal
30	DCAF4L2	Ssm	3	51	5.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Cholangiocarcinoma (TCGA, PanCancer Atlas) chol_tcga_pan_can_atlas_2018TCGA

36 cases with simple somatic mutation data · 36 cases total · 2026-06-05 · mapped to Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BAP1	Ssm	7	36	19.4%	cbioportal
2	PBRM1	Ssm	7	36	19.4%	cbioportal
3	IDH1	Ssm	5	36	13.9%	cbioportal
8	TP53	Ssm	4	36	11.1%	cbioportal
9	TTN	Ssm	4	36	11.1%	cbioportal
4	ARID1A	Ssm	4	36	11.1%	cbioportal
5	DNAH5	Ssm	4	36	11.1%	cbioportal
7	KMT2C	Ssm	4	36	11.1%	cbioportal
6	EPHA2	Ssm	4	36	11.1%	cbioportal
22	LRP1	Ssm	3	36	8.3%	cbioportal
16	BCOR	Ssm	3	36	8.3%	cbioportal
27	PLXNA4	Ssm	3	36	8.3%	cbioportal
14	APOB	Ssm	3	36	8.3%	cbioportal
13	ALB	Ssm	3	36	8.3%	cbioportal
12	AHNAK	Ssm	3	36	8.3%	cbioportal
11	ADGRV1	Ssm	3	36	8.3%	cbioportal
10	ADAM30	Ssm	3	36	8.3%	cbioportal
28	RYR1	Ssm	3	36	8.3%	cbioportal
15	ARID1B	Ssm	3	36	8.3%	cbioportal
26	MUC5B	Ssm	3	36	8.3%	cbioportal
25	MUC16	Ssm	3	36	8.3%	cbioportal
24	MPDZ	Ssm	3	36	8.3%	cbioportal
17	BIRC6	Ssm	3	36	8.3%	cbioportal
18	CHD7	Ssm	3	36	8.3%	cbioportal
19	COL6A3	Ssm	3	36	8.3%	cbioportal
20	CSMD2	Ssm	3	36	8.3%	cbioportal
21	FMN2	Ssm	3	36	8.3%	cbioportal
23	MACF1	Ssm	3	36	8.3%	cbioportal
56	DNAH2	Ssm	2	36	5.6%	cbioportal
57	DNAH6	Ssm	2	36	5.6%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Chromophobe Renal Cell Carcinoma (TCGA GDC, 2025) chrcc_tcga_gdcTCGA GDC

66 cases with simple somatic mutation data · 66 cases total · 2026-01-13 · mapped to Chromophobe Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	20	66	30.3%	cbioportal
2	PTEN	Ssm	6	66	9.1%	cbioportal
3	TTN	Ssm	4	66	6.1%	cbioportal
8	ZAN	Ssm	3	66	4.5%	cbioportal
4	CFAP47	Ssm	3	66	4.5%	cbioportal
5	CSF2RB	Ssm	3	66	4.5%	cbioportal
6	ICE1	Ssm	3	66	4.5%	cbioportal
7	MUC16	Ssm	3	66	4.5%	cbioportal
15	ANKRD17	Ssm	2	66	3%	cbioportal
16	ARHGEF2	Ssm	2	66	3%	cbioportal
17	ATG2A	Ssm	2	66	3%	cbioportal
23	BLTP1	Ssm	2	66	3%	cbioportal
25	BSN	Ssm	2	66	3%	cbioportal
26	C3ORF20	Ssm	2	66	3%	cbioportal
57	LTN1	Ssm	2	66	3%	cbioportal
9	ABCE1	Ssm	2	66	3%	cbioportal
10	ADAMTSL1	Ssm	2	66	3%	cbioportal
11	ADGRB1	Ssm	2	66	3%	cbioportal
12	AFF3	Ssm	2	66	3%	cbioportal
13	AGBL1	Ssm	2	66	3%	cbioportal
14	AICDA	Ssm	2	66	3%	cbioportal
18	ATG2B	Ssm	2	66	3%	cbioportal
29	CDKN1A	Ssm	2	66	3%	cbioportal
19	ATM	Ssm	2	66	3%	cbioportal
20	ATP10B	Ssm	2	66	3%	cbioportal
21	AXDND1	Ssm	2	66	3%	cbioportal
22	BIRC6	Ssm	2	66	3%	cbioportal
24	BPTF	Ssm	2	66	3%	cbioportal
28	CACNA1C	Ssm	2	66	3%	cbioportal
27	CACNA1A	Ssm	2	66	3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Chronic Lymphocytic Leukemia (Broad, Cell 2013) lcll_broad_2013Broad

160 cases with simple somatic mutation data · 160 cases total · 2026-01-07 · mapped to Small Lymphocytic Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SF3B1	Ssm	23	160	14.4%	cbioportal
2	TP53	Ssm	19	160	11.9%	cbioportal
3	NOTCH1	Ssm	15	160	9.4%	cbioportal
4	MYD88	Ssm	12	160	7.5%	cbioportal
5	ATM	Ssm	9	160	5.6%	cbioportal
7	MUC16	Ssm	6	160	3.8%	cbioportal
6	CHD2	Ssm	6	160	3.8%	cbioportal
9	H1-4	Ssm	5	160	3.1%	cbioportal
11	TTN	Ssm	5	160	3.1%	cbioportal
12	XPO1	Ssm	5	160	3.1%	cbioportal
8	FAT3	Ssm	5	160	3.1%	cbioportal
10	POT1	Ssm	5	160	3.1%	cbioportal
17	PCLO	Ssm	4	160	2.5%	cbioportal
22	SRCAP	Ssm	4	160	2.5%	cbioportal
23	WDR72	Ssm	4	160	2.5%	cbioportal
18	RIPK1	Ssm	4	160	2.5%	cbioportal
19	SAMHD1	Ssm	4	160	2.5%	cbioportal
16	NRAS	Ssm	4	160	2.5%	cbioportal
15	NAV2	Ssm	4	160	2.5%	cbioportal
20	SCN2A	Ssm	4	160	2.5%	cbioportal
21	SLIT3	Ssm	4	160	2.5%	cbioportal
13	CSMD1	Ssm	4	160	2.5%	cbioportal
14	FAT4	Ssm	4	160	2.5%	cbioportal
27	BLTP1	Ssm	3	160	1.9%	cbioportal
30	CECR2	Ssm	3	160	1.9%	cbioportal
29	CDH9	Ssm	3	160	1.9%	cbioportal
25	ALMS1	Ssm	3	160	1.9%	cbioportal
26	BCR	Ssm	3	160	1.9%	cbioportal
24	ADCY2	Ssm	3	160	1.9%	cbioportal
28	CDH10	Ssm	3	160	1.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Chronic Lymphocytic Leukemia (Broad, Nature 2015) cll_broad_2015Broad

537 cases with simple somatic mutation data · 537 cases total · 2026-01-06 · mapped to Small Lymphocytic Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SF3B1	Ssm	113	537	21%	cbioportal
2	ATM	Ssm	82	537	15.3%	cbioportal
3	TP53	Ssm	39	537	7.3%	cbioportal
4	NOTCH1	Ssm	38	537	7.1%	cbioportal
5	POT1	Ssm	35	537	6.5%	cbioportal
6	PCLO	Ssm	28	537	5.2%	cbioportal
7	CHD2	Ssm	26	537	4.8%	cbioportal
8	XPO1	Ssm	24	537	4.5%	cbioportal
9	RPS15	Ssm	22	537	4.1%	cbioportal
10	MUC16	Ssm	21	537	3.9%	cbioportal
11	TTN	Ssm	21	537	3.9%	cbioportal
12	BRAF	Ssm	20	537	3.7%	cbioportal
14	CSMD3	Ssm	19	537	3.5%	cbioportal
13	BIRC3	Ssm	19	537	3.5%	cbioportal
15	EGR2	Ssm	17	537	3.2%	cbioportal
16	MGA	Ssm	17	537	3.2%	cbioportal
17	LRP1B	Ssm	16	537	3%	cbioportal
18	MYD88	Ssm	16	537	3%	cbioportal
20	USH2A	Ssm	15	537	2.8%	cbioportal
19	FAT4	Ssm	15	537	2.8%	cbioportal
22	KRAS	Ssm	14	537	2.6%	cbioportal
21	FAT3	Ssm	14	537	2.6%	cbioportal
24	PCDH15	Ssm	13	537	2.4%	cbioportal
23	DDX3X	Ssm	13	537	2.4%	cbioportal
28	IGLL5	Ssm	12	537	2.2%	cbioportal
26	CSMD1	Ssm	12	537	2.2%	cbioportal
25	BCOR	Ssm	12	537	2.2%	cbioportal
27	FBXW7	Ssm	12	537	2.2%	cbioportal
30	IKZF3	Ssm	11	537	2%	cbioportal
29	DST	Ssm	11	537	2%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Chronic Lymphocytic Leukemia (Broad, Nature Genetics 2022) cll_broad_2022Broad

1,075 cases with simple somatic mutation data · 1,154 cases total · 2026-02-19 · mapped to Small Lymphocytic Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SF3B1	Ssm	174	1,075	16.2%	cbioportal
2	ATM	Ssm	111	1,075	10.3%	cbioportal
3	TP53	Ssm	91	1,075	8.5%	cbioportal
4	TTN	Ssm	76	1,075	7.1%	cbioportal
5	POT1	Ssm	60	1,075	5.6%	cbioportal
6	PCLO	Ssm	58	1,075	5.4%	cbioportal
7	CHD2	Ssm	55	1,075	5.1%	cbioportal
8	NOTCH1	Ssm	54	1,075	5%	cbioportal
9	XPO1	Ssm	51	1,075	4.7%	cbioportal
10	MUC16	Ssm	49	1,075	4.6%	cbioportal
11	LRP1B	Ssm	48	1,075	4.5%	cbioportal
12	CSMD3	Ssm	42	1,075	3.9%	cbioportal
13	USH2A	Ssm	37	1,075	3.4%	cbioportal
14	FAT4	Ssm	35	1,075	3.3%	cbioportal
17	RYR2	Ssm	34	1,075	3.2%	cbioportal
16	MGA	Ssm	34	1,075	3.2%	cbioportal
15	BRAF	Ssm	34	1,075	3.2%	cbioportal
20	MYD88	Ssm	33	1,075	3.1%	cbioportal
19	FAT1	Ssm	33	1,075	3.1%	cbioportal
18	EGR2	Ssm	33	1,075	3.1%	cbioportal
21	ZFHX4	Ssm	33	1,075	3.1%	cbioportal
22	HMCN1	Ssm	32	1,075	3%	cbioportal
24	ZNF292	Ssm	30	1,075	2.8%	cbioportal
23	BIRC3	Ssm	30	1,075	2.8%	cbioportal
25	DST	Ssm	28	1,075	2.6%	cbioportal
26	CSMD1	Ssm	27	1,075	2.5%	cbioportal
28	FBXW7	Ssm	27	1,075	2.5%	cbioportal
27	DDX3X	Ssm	27	1,075	2.5%	cbioportal
30	WDFY3	Ssm	27	1,075	2.5%	cbioportal
29	KRAS	Ssm	27	1,075	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-02-19

Chronic lymphocytic leukemia (ICGC, Nature Genetics 2011) cllsll_icgc_2011ICGC

105 cases with simple somatic mutation data · 105 cases total · 2026-01-06 · mapped to Small Lymphocytic Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SF3B1	Ssm	10	105	9.5%	cbioportal
2	LRP1B	Ssm	5	105	4.8%	cbioportal
7	SI	Ssm	4	105	3.8%	cbioportal
5	CSMD3	Ssm	4	105	3.8%	cbioportal
4	CHD2	Ssm	4	105	3.8%	cbioportal
3	ATM	Ssm	4	105	3.8%	cbioportal
6	MUC2	Ssm	4	105	3.8%	cbioportal
14	SLC4A10	Ssm	3	105	2.9%	cbioportal
12	POT1	Ssm	3	105	2.9%	cbioportal
11	NXF1	Ssm	3	105	2.9%	cbioportal
10	CDH23	Ssm	3	105	2.9%	cbioportal
9	ASXL1	Ssm	3	105	2.9%	cbioportal
8	ADGRL3	Ssm	3	105	2.9%	cbioportal
13	RIMS2	Ssm	3	105	2.9%	cbioportal
17	ADAMTS18	Ssm	2	105	1.9%	cbioportal
18	ADGRL2	Ssm	2	105	1.9%	cbioportal
19	AKAP6	Ssm	2	105	1.9%	cbioportal
20	ARID1A	Ssm	2	105	1.9%	cbioportal
21	BRAF	Ssm	2	105	1.9%	cbioportal
22	CD36	Ssm	2	105	1.9%	cbioportal
23	CELF4	Ssm	2	105	1.9%	cbioportal
24	COL22A1	Ssm	2	105	1.9%	cbioportal
25	COL25A1	Ssm	2	105	1.9%	cbioportal
26	DCAF1	Ssm	2	105	1.9%	cbioportal
27	DDX3X	Ssm	2	105	1.9%	cbioportal
28	DLC1	Ssm	2	105	1.9%	cbioportal
29	DOCK4	Ssm	2	105	1.9%	cbioportal
30	DPP6	Ssm	2	105	1.9%	cbioportal
15	ABCA4	Ssm	2	105	1.9%	cbioportal
16	ADAM2	Ssm	2	105	1.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Chronic Lymphocytic Leukemia (IUOPA, Nature 2015) cll_iuopa_2015IUOPA

506 cases with simple somatic mutation data · 506 cases total · 2026-01-06 · mapped to Small Lymphocytic Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NOTCH1	Ssm	48	506	9.5%	cbioportal
2	SF3B1	Ssm	41	506	8.1%	cbioportal
3	ATM	Ssm	31	506	6.1%	cbioportal
4	IGLL5	Ssm	26	506	5.1%	cbioportal
5	CHD2	Ssm	24	506	4.7%	cbioportal
6	LRP1B	Ssm	23	506	4.5%	cbioportal
7	MUC16	Ssm	20	506	4%	cbioportal
8	MYD88	Ssm	18	506	3.6%	cbioportal
9	POT1	Ssm	17	506	3.4%	cbioportal
10	PCLO	Ssm	15	506	3%	cbioportal
11	TP53	Ssm	15	506	3%	cbioportal
12	KLHL6	Ssm	14	506	2.8%	cbioportal
14	ZNF292	Ssm	13	506	2.6%	cbioportal
13	CSMD3	Ssm	13	506	2.6%	cbioportal
16	DDX3X	Ssm	12	506	2.4%	cbioportal
15	CSMD1	Ssm	12	506	2.4%	cbioportal
17	MGA	Ssm	12	506	2.4%	cbioportal
18	ADGRL3	Ssm	11	506	2.2%	cbioportal
19	BRAF	Ssm	10	506	2%	cbioportal
22	USH2A	Ssm	10	506	2%	cbioportal
21	TTN	Ssm	10	506	2%	cbioportal
20	FAT4	Ssm	10	506	2%	cbioportal
25	DTX1	Ssm	9	506	1.8%	cbioportal
28	SYNE1	Ssm	9	506	1.8%	cbioportal
27	RYR2	Ssm	9	506	1.8%	cbioportal
26	EGR2	Ssm	9	506	1.8%	cbioportal
24	DNAH9	Ssm	9	506	1.8%	cbioportal
30	XPO1	Ssm	9	506	1.8%	cbioportal
29	TENM1	Ssm	9	506	1.8%	cbioportal
23	BIRC3	Ssm	9	506	1.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Chronic Lymphocytic Leukemia (MSK, 2026) cllsll_msk_2026MSK

21 cases with simple somatic mutation data · 21 cases total · 2026-03-25 · mapped to Small Lymphocytic Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SF3B1	Ssm	14	21	66.7%	cbioportal
2	TP53	Ssm	13	21	61.9%	cbioportal
3	BTK	Ssm	12	21	57.1%	cbioportal
7	MYO18A	Ssm	6	19	31.6%	cbioportal
5	CBFB	Ssm	6	21	28.6%	cbioportal
4	ATM	Ssm	6	21	28.6%	cbioportal
9	SETD2	Ssm	6	21	28.6%	cbioportal
8	RB1	Ssm	6	21	28.6%	cbioportal
6	FAT1	Ssm	6	21	28.6%	cbioportal
11	FANCL	Ssm	5	19	26.3%	cbioportal
12	LRP1B	Ssm	5	19	26.3%	cbioportal
10	ATXN2	Ssm	5	21	23.8%	cbioportal
13	TRAF3	Ssm	4	21	19%	cbioportal
26	ZNF292	Ssm	2	19	10.5%	cbioportal
18	CXCR4	Ssm	2	21	9.5%	cbioportal
15	ARID1B	Ssm	2	21	9.5%	cbioportal
22	KRAS	Ssm	2	21	9.5%	cbioportal
21	GRIN2A	Ssm	2	21	9.5%	cbioportal
20	DIS3	Ssm	2	21	9.5%	cbioportal
19	DDX3X	Ssm	2	21	9.5%	cbioportal
17	BCOR	Ssm	2	21	9.5%	cbioportal
23	MGA	Ssm	2	21	9.5%	cbioportal
24	MYD88	Ssm	2	21	9.5%	cbioportal
25	TERT	Ssm	2	21	9.5%	cbioportal
14	ARID1A	Ssm	2	21	9.5%	cbioportal
16	BCL2	Ssm	2	21	9.5%	cbioportal
35	PPM1D	Ssm	1	19	5.3%	cbioportal
33	PIK3CD	Ssm	1	19	5.3%	cbioportal
28	CARD11	Ssm	1	21	4.8%	cbioportal
39	TET2	Ssm	1	21	4.8%	cbioportal

Data updated 22 days agoSource updated 2026-03-25

Classical Hodgkins Lymphoma (SCCC, Blood Cancer Discov 2023) chl_sccc_2023SCCC

61 cases with simple somatic mutation data · 61 cases total · 2026-01-06 · mapped to Classic Hodgkin Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SOCS1	Ssm	38	61	62.3%	cbioportal
2	TNFAIP3	Ssm	22	61	36.1%	cbioportal
3	B2M	Ssm	20	61	32.8%	cbioportal
4	ITPKB	Ssm	17	61	27.9%	cbioportal
5	GNA13	Ssm	16	61	26.2%	cbioportal
6	IGLL5	Ssm	15	61	24.6%	cbioportal
8	MUC16	Ssm	12	61	19.7%	cbioportal
9	STAT6	Ssm	12	61	19.7%	cbioportal
7	CENPB	Ssm	12	61	19.7%	cbioportal
12	FAM230A	Ssm	11	61	18%	cbioportal
13	OBSCN	Ssm	11	61	18%	cbioportal
10	BCL7A	Ssm	11	61	18%	cbioportal
11	CSF2RB	Ssm	11	61	18%	cbioportal
14	AHNAK2	Ssm	10	61	16.4%	cbioportal
15	FLG	Ssm	9	61	14.8%	cbioportal
17	NFKBIE	Ssm	9	61	14.8%	cbioportal
16	LRP1B	Ssm	9	61	14.8%	cbioportal
22	TTN	Ssm	8	61	13.1%	cbioportal
18	H1-4	Ssm	8	61	13.1%	cbioportal
19	KMT2D	Ssm	8	61	13.1%	cbioportal
20	MFHAS1	Ssm	8	61	13.1%	cbioportal
21	NFKB2	Ssm	8	61	13.1%	cbioportal
24	LRRN3	Ssm	7	61	11.5%	cbioportal
25	MUC17	Ssm	7	61	11.5%	cbioportal
26	SDK2	Ssm	7	61	11.5%	cbioportal
27	ZFP36L1	Ssm	7	61	11.5%	cbioportal
23	ACTB	Ssm	7	61	11.5%	cbioportal
28	BTG1	Ssm	6	61	9.8%	cbioportal
30	DNAH11	Ssm	6	61	9.8%	cbioportal
29	CSMD3	Ssm	6	61	9.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Clear Cell Renal Cell Carcinoma (DFCI, Science 2019) ccrcc_dfci_2019DFCI

35 cases with simple somatic mutation data · 35 cases total · 2026-01-05 · mapped to Clear Cell Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	25	35	71.4%	cbioportal
2	PBRM1	Ssm	19	35	54.3%	cbioportal
3	SETD2	Ssm	15	35	42.9%	cbioportal
5	MACF1	Ssm	7	35	20%	cbioportal
4	KDM5C	Ssm	7	35	20%	cbioportal
7	TTN	Ssm	6	35	17.1%	cbioportal
6	CACNA1I	Ssm	6	35	17.1%	cbioportal
8	BAP1	Ssm	5	35	14.3%	cbioportal
14	ITCH	Ssm	4	35	11.4%	cbioportal
12	DYNC1I1	Ssm	4	35	11.4%	cbioportal
11	DACH2	Ssm	4	35	11.4%	cbioportal
10	ATXN7L1	Ssm	4	35	11.4%	cbioportal
9	AK9	Ssm	4	35	11.4%	cbioportal
15	MTOR	Ssm	4	35	11.4%	cbioportal
16	USP32	Ssm	4	35	11.4%	cbioportal
17	VPS13B	Ssm	4	35	11.4%	cbioportal
13	HDAC9	Ssm	4	35	11.4%	cbioportal
26	FIRRM	Ssm	3	35	8.6%	cbioportal
30	HUWE1	Ssm	3	35	8.6%	cbioportal
29	HMCN1	Ssm	3	35	8.6%	cbioportal
28	HIF1A	Ssm	3	35	8.6%	cbioportal
27	GUCY2C	Ssm	3	35	8.6%	cbioportal
25	EPB41	Ssm	3	35	8.6%	cbioportal
24	DNAH14	Ssm	3	35	8.6%	cbioportal
22	CLCA4	Ssm	3	35	8.6%	cbioportal
21	CHD9	Ssm	3	35	8.6%	cbioportal
20	CD2AP	Ssm	3	35	8.6%	cbioportal
19	CABIN1	Ssm	3	35	8.6%	cbioportal
18	ADAMTS16	Ssm	3	35	8.6%	cbioportal
23	CTNNA2	Ssm	3	35	8.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Colon Adenocarcinoma TCGA-COADTCGA

461 cases with simple somatic mutation data · 461 cases total · Data Release 46.0 · mapped to Colon Adenocarcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	PTPRT	Ssm	348	461	75.5%	gdc
1	ZNF831	Ssm	348	461	75.5%	gdc
3	DIDO1	Ssm	345	461	74.8%	gdc
4	KCNB1	Ssm	343	461	74.4%	gdc
5	APC	Ssm	341	461	74%	gdc
6	LAMA5	Ssm	340	461	73.8%	gdc
7	CHD6	Ssm	339	461	73.5%	gdc
9	SLC12A5	Ssm	338	461	73.3%	gdc
8	ZMYND8	Ssm	338	461	73.3%	gdc
10	TSHZ2	Ssm	338	461	73.3%	gdc
11	RALGAPB	Ssm	337	461	73.1%	gdc
12	CDH4	Ssm	337	461	73.1%	gdc
14	ARFGEF2	Ssm	336	461	72.9%	gdc
13	NCOA6	Ssm	336	461	72.9%	gdc
15	ZNFX1	Ssm	335	461	72.7%	gdc
20	ZNF335	Ssm	334	461	72.5%	gdc
19	CEP250	Ssm	334	461	72.5%	gdc
18	SYCP2	Ssm	334	461	72.5%	gdc
17	KCNQ2	Ssm	334	461	72.5%	gdc
16	ASXL1	Ssm	334	461	72.5%	gdc
21	DDX27	Ssm	334	461	72.5%	gdc
22	KIAA1755	Ssm	333	461	72.2%	gdc
25	PREX1	Ssm	332	461	72%	gdc
26	GNAS	Ssm	332	461	72%	gdc
24	SALL4	Ssm	332	461	72%	gdc
23	HELZ2	Ssm	332	461	72%	gdc
30	TGM2	Ssm	331	461	71.8%	gdc
27	MYH7B	Ssm	331	461	71.8%	gdc
28	ATP9A	Ssm	331	461	71.8%	gdc
29	PLCG1	Ssm	331	461	71.8%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Colon Adenocarcinoma (CaseCCC, PNAS 2015) coad_caseccc_2015CaseCCC

29 cases with simple somatic mutation data · 29 cases total · 2026-01-06 · mapped to Colon Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	22	29	75.9%	cbioportal
2	TP53	Ssm	20	29	69%	cbioportal
3	KRAS	Ssm	16	29	55.2%	cbioportal
4	TTN	Ssm	11	29	37.9%	cbioportal
5	FLG	Ssm	8	29	27.6%	cbioportal
6	SMAD4	Ssm	7	29	24.1%	cbioportal
7	HYDIN	Ssm	6	29	20.7%	cbioportal
9	CSMD1	Ssm	5	29	17.2%	cbioportal
11	PIK3CA	Ssm	5	29	17.2%	cbioportal
8	COL11A1	Ssm	5	29	17.2%	cbioportal
10	NEB	Ssm	5	29	17.2%	cbioportal
15	CYP19A1	Ssm	4	29	13.8%	cbioportal
14	CSMD2	Ssm	4	29	13.8%	cbioportal
25	TENM1	Ssm	4	29	13.8%	cbioportal
12	AHNAK2	Ssm	4	29	13.8%	cbioportal
13	APOB	Ssm	4	29	13.8%	cbioportal
24	SYNE1	Ssm	4	29	13.8%	cbioportal
23	SPATA31A3	Ssm	4	29	13.8%	cbioportal
22	PXDNL	Ssm	4	29	13.8%	cbioportal
21	PCLO	Ssm	4	29	13.8%	cbioportal
20	PCDH17	Ssm	4	29	13.8%	cbioportal
19	KMT2D	Ssm	4	29	13.8%	cbioportal
18	FRAS1	Ssm	4	29	13.8%	cbioportal
17	FBXW7	Ssm	4	29	13.8%	cbioportal
16	DNAH3	Ssm	4	29	13.8%	cbioportal
53	PKDREJ	Ssm	3	29	10.3%	cbioportal
54	PLCG2	Ssm	3	29	10.3%	cbioportal
55	PLXNB3	Ssm	3	29	10.3%	cbioportal
51	NUP210L	Ssm	3	29	10.3%	cbioportal
52	PAPPA2	Ssm	3	29	10.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Colon Adenocarcinoma (CPTAC GDC, 2025) coad_cptac_gdcCPTAC GDC

104 cases with simple somatic mutation data · 109 cases total · 2026-01-14 · mapped to Colon Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	79	104	76%	cbioportal
2	TP53	Ssm	57	104	54.8%	cbioportal
3	TTN	Ssm	50	104	48.1%	cbioportal
4	KRAS	Ssm	36	104	34.6%	cbioportal
5	MUC16	Ssm	28	104	26.9%	cbioportal
6	SYNE1	Ssm	27	104	26%	cbioportal
7	CSMD3	Ssm	25	104	24%	cbioportal
8	FAT3	Ssm	25	104	24%	cbioportal
9	RYR1	Ssm	24	104	23.1%	cbioportal
11	HMCN1	Ssm	23	104	22.1%	cbioportal
10	FAT4	Ssm	23	104	22.1%	cbioportal
12	OBSCN	Ssm	22	104	21.2%	cbioportal
13	PIK3CA	Ssm	22	104	21.2%	cbioportal
14	ZNF469	Ssm	22	104	21.2%	cbioportal
17	LRTM3	Ssm	21	104	20.2%	cbioportal
16	DNAH5	Ssm	21	104	20.2%	cbioportal
15	ACVR2A	Ssm	21	104	20.2%	cbioportal
20	SPEG	Ssm	20	104	19.2%	cbioportal
19	SOX9	Ssm	20	104	19.2%	cbioportal
18	COL5A1	Ssm	20	104	19.2%	cbioportal
21	ARID1A	Ssm	19	104	18.3%	cbioportal
22	DMD	Ssm	19	104	18.3%	cbioportal
25	RYR2	Ssm	19	104	18.3%	cbioportal
24	NBEA	Ssm	19	104	18.3%	cbioportal
23	MYCBP2	Ssm	19	104	18.3%	cbioportal
29	PCLO	Ssm	18	104	17.3%	cbioportal
30	PLEC	Ssm	18	104	17.3%	cbioportal
28	HERC2	Ssm	18	104	17.3%	cbioportal
27	FSIP2	Ssm	18	104	17.3%	cbioportal
26	ADGRV1	Ssm	18	104	17.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Colon Adenocarcinoma (TCGA GDC, 2025) coad_tcga_gdcTCGA GDC

429 cases with simple somatic mutation data · 463 cases total · 2026-01-19 · mapped to Colon Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	308	429	71.8%	cbioportal
2	TP53	Ssm	237	429	55.2%	cbioportal
3	TTN	Ssm	202	429	47.1%	cbioportal
4	KRAS	Ssm	183	429	42.7%	cbioportal
5	PIK3CA	Ssm	127	429	29.6%	cbioportal
6	SYNE1	Ssm	122	429	28.4%	cbioportal
7	MUC16	Ssm	121	429	28.2%	cbioportal
8	FAT4	Ssm	99	429	23.1%	cbioportal
10	ZFHX4	Ssm	86	429	20%	cbioportal
9	RYR2	Ssm	86	429	20%	cbioportal
11	OBSCN	Ssm	84	429	19.6%	cbioportal
13	DNAH5	Ssm	80	429	18.6%	cbioportal
12	CSMD3	Ssm	80	429	18.6%	cbioportal
14	LRP1B	Ssm	75	429	17.5%	cbioportal
15	PCLO	Ssm	73	429	17%	cbioportal
16	RYR3	Ssm	71	429	16.6%	cbioportal
17	FBXW7	Ssm	70	429	16.3%	cbioportal
19	USH2A	Ssm	69	429	16.1%	cbioportal
18	DNAH11	Ssm	69	429	16.1%	cbioportal
20	CSMD1	Ssm	67	429	15.6%	cbioportal
21	RYR1	Ssm	67	429	15.6%	cbioportal
22	ABCA13	Ssm	66	429	15.4%	cbioportal
23	ADGRV1	Ssm	65	429	15.2%	cbioportal
24	FAT3	Ssm	63	429	14.7%	cbioportal
25	NEB	Ssm	62	429	14.5%	cbioportal
29	SOX9	Ssm	61	429	14.2%	cbioportal
26	BRAF	Ssm	61	429	14.2%	cbioportal
27	DST	Ssm	61	429	14.2%	cbioportal
28	LRP2	Ssm	61	429	14.2%	cbioportal
30	MDN1	Ssm	60	429	14%	cbioportal

Data updated 22 days agoSource updated 2026-01-19

Colon Cancer (CPTAC-2 Prospective, Cell 2019) coad_cptac_2019CPTAC-2 Prospective

106 cases with simple somatic mutation data · 110 cases total · 2026-01-06 · mapped to Colon Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	79	106	74.5%	cbioportal
2	TTN	Ssm	58	106	54.7%	cbioportal
3	TP53	Ssm	56	106	52.8%	cbioportal
4	MUC16	Ssm	39	106	36.8%	cbioportal
5	KRAS	Ssm	35	106	33%	cbioportal
6	OBSCN	Ssm	29	106	27.4%	cbioportal
7	SYNE1	Ssm	28	106	26.4%	cbioportal
9	FAT3	Ssm	27	106	25.5%	cbioportal
8	DNAH5	Ssm	27	106	25.5%	cbioportal
11	FAT4	Ssm	26	106	24.5%	cbioportal
12	MUC5B	Ssm	26	106	24.5%	cbioportal
10	CSMD3	Ssm	26	106	24.5%	cbioportal
13	RYR1	Ssm	25	106	23.6%	cbioportal
15	ZNF469	Ssm	24	106	22.6%	cbioportal
14	PCLO	Ssm	24	106	22.6%	cbioportal
19	PIK3CA	Ssm	23	106	21.7%	cbioportal
20	PLEC	Ssm	23	106	21.7%	cbioportal
18	HMCN1	Ssm	23	106	21.7%	cbioportal
17	COL5A1	Ssm	23	106	21.7%	cbioportal
16	ACVR2A	Ssm	23	106	21.7%	cbioportal
22	FSIP2	Ssm	22	106	20.8%	cbioportal
21	ARID1A	Ssm	22	106	20.8%	cbioportal
27	TCF7L2	Ssm	21	106	19.8%	cbioportal
25	NBEA	Ssm	21	106	19.8%	cbioportal
26	RYR2	Ssm	21	106	19.8%	cbioportal
23	AHNAK2	Ssm	21	106	19.8%	cbioportal
24	HERC2	Ssm	21	106	19.8%	cbioportal
29	DOCK3	Ssm	20	106	18.9%	cbioportal
28	DMD	Ssm	20	106	18.9%	cbioportal
30	MUC4	Ssm	20	106	18.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Colon Cancer (Sidra-LUMC AC-ICAM, Nat Med 2023) coad_silu_2022Sidra-LUMC AC-ICAM

281 cases with simple somatic mutation data · 348 cases total · 2026-01-06 · mapped to Colon Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	196	281	69.8%	cbioportal
2	TTN	Ssm	142	281	50.5%	cbioportal
3	TP53	Ssm	119	281	42.3%	cbioportal
4	KRAS	Ssm	100	281	35.6%	cbioportal
5	SYNE1	Ssm	90	281	32%	cbioportal
6	MUC16	Ssm	76	281	27%	cbioportal
7	FAT4	Ssm	74	281	26.3%	cbioportal
8	OBSCN	Ssm	72	281	25.6%	cbioportal
9	RYR2	Ssm	66	281	23.5%	cbioportal
11	LRP1B	Ssm	65	281	23.1%	cbioportal
10	BRAF	Ssm	65	281	23.1%	cbioportal
12	ACVR2A	Ssm	64	281	22.8%	cbioportal
13	RYR1	Ssm	64	281	22.8%	cbioportal
14	CSMD1	Ssm	63	281	22.4%	cbioportal
15	DNAH5	Ssm	62	281	22.1%	cbioportal
16	PCLO	Ssm	61	281	21.7%	cbioportal
17	CSMD3	Ssm	60	281	21.4%	cbioportal
18	MUC5B	Ssm	57	281	20.3%	cbioportal
19	ZFHX4	Ssm	57	281	20.3%	cbioportal
21	FSIP2	Ssm	56	281	19.9%	cbioportal
20	FAT2	Ssm	56	281	19.9%	cbioportal
22	RYR3	Ssm	55	281	19.6%	cbioportal
23	USH2A	Ssm	55	281	19.6%	cbioportal
25	FAT3	Ssm	54	281	19.2%	cbioportal
24	DMD	Ssm	54	281	19.2%	cbioportal
26	ABCA13	Ssm	52	281	18.5%	cbioportal
27	SACS	Ssm	52	281	18.5%	cbioportal
28	ZNF469	Ssm	52	281	18.5%	cbioportal
29	APOB	Ssm	51	281	18.1%	cbioportal
30	PLEC	Ssm	51	281	18.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Colorectal Adenocarcinoma (DFCI, Cell Reports 2016) coadread_dfci_2016DFCI

619 cases with simple somatic mutation data · 619 cases total · 2026-01-06 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	361	619	58.3%	cbioportal
2	TP53	Ssm	320	619	51.7%	cbioportal
3	TTN	Ssm	295	619	47.7%	cbioportal
4	KRAS	Ssm	173	619	27.9%	cbioportal
5	SYNE1	Ssm	167	619	27%	cbioportal
6	FLG	Ssm	154	619	24.9%	cbioportal
7	MUC16	Ssm	150	619	24.2%	cbioportal
8	PIK3CA	Ssm	132	619	21.3%	cbioportal
9	MUC17	Ssm	129	619	20.8%	cbioportal
10	BRAF	Ssm	127	619	20.5%	cbioportal
11	OBSCN	Ssm	116	619	18.7%	cbioportal
12	RYR1	Ssm	111	619	17.9%	cbioportal
13	FAT4	Ssm	109	619	17.6%	cbioportal
15	NEB	Ssm	106	619	17.1%	cbioportal
14	AHNAK2	Ssm	106	619	17.1%	cbioportal
16	CSMD3	Ssm	104	619	16.8%	cbioportal
17	LRP1B	Ssm	100	619	16.2%	cbioportal
18	PLEC	Ssm	99	619	16%	cbioportal
19	DNAH5	Ssm	98	619	15.8%	cbioportal
20	SDK1	Ssm	93	619	15%	cbioportal
21	KMT2C	Ssm	92	619	14.9%	cbioportal
22	UBR4	Ssm	91	619	14.7%	cbioportal
23	FAT3	Ssm	90	619	14.5%	cbioportal
24	HRNR	Ssm	90	619	14.5%	cbioportal
25	DIDO1	Ssm	89	619	14.4%	cbioportal
26	AHNAK	Ssm	87	619	14.1%	cbioportal
27	FBXW7	Ssm	86	619	13.9%	cbioportal
28	USH2A	Ssm	84	619	13.6%	cbioportal
29	HMCN1	Ssm	81	619	13.1%	cbioportal
30	RNF213	Ssm	80	619	12.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Colorectal Adenocarcinoma (Genentech, Nature 2012) coadread_genentechGenentech

72 cases with simple somatic mutation data · 74 cases total · 2026-01-06 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	40	72	55.6%	cbioportal
2	KRAS	Ssm	37	72	51.4%	cbioportal
4	TTN	Ssm	29	72	40.3%	cbioportal
3	APC	Ssm	29	72	40.3%	cbioportal
5	PIK3CA	Ssm	22	72	30.6%	cbioportal
6	SYNE1	Ssm	19	72	26.4%	cbioportal
7	DNAH5	Ssm	18	72	25%	cbioportal
11	SMAD4	Ssm	17	72	23.6%	cbioportal
8	CSMD1	Ssm	17	72	23.6%	cbioportal
9	FAT3	Ssm	17	72	23.6%	cbioportal
10	FAT4	Ssm	17	72	23.6%	cbioportal
12	RYR2	Ssm	16	72	22.2%	cbioportal
16	PLEC	Ssm	15	72	20.8%	cbioportal
13	FBXW7	Ssm	15	72	20.8%	cbioportal
14	NEB	Ssm	15	72	20.8%	cbioportal
15	OBSCN	Ssm	15	72	20.8%	cbioportal
23	RYR1	Ssm	14	72	19.4%	cbioportal
17	HERC2	Ssm	14	72	19.4%	cbioportal
18	LAMA5	Ssm	14	72	19.4%	cbioportal
19	LRP2	Ssm	14	72	19.4%	cbioportal
20	MYO15A	Ssm	14	72	19.4%	cbioportal
21	NRXN1	Ssm	14	72	19.4%	cbioportal
22	PCLO	Ssm	14	72	19.4%	cbioportal
30	LRP1B	Ssm	13	72	18.1%	cbioportal
24	ADGRV1	Ssm	13	72	18.1%	cbioportal
25	ATM	Ssm	13	72	18.1%	cbioportal
26	ATP10A	Ssm	13	72	18.1%	cbioportal
27	CSMD3	Ssm	13	72	18.1%	cbioportal
28	DNAH11	Ssm	13	72	18.1%	cbioportal
29	DNHD1	Ssm	13	72	18.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Colorectal Adenocarcinoma (MSK, 2026) crc_msk_2026MSK

7,237 cases with simple somatic mutation data · 7,237 cases total · 2026-09-01 · mapped to Rectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	5,400	7,237	74.6%	cbioportal
2	TP53	Ssm	5,295	7,237	73.2%	cbioportal
3	KRAS	Ssm	3,096	7,237	42.8%	cbioportal
4	PIK3CA	Ssm	1,486	7,237	20.5%	cbioportal
5	FBXW7	Ssm	1,127	7,237	15.6%	cbioportal
6	TCF7L2	Ssm	1,088	7,035	15.5%	cbioportal
7	SMAD4	Ssm	1,078	7,237	14.9%	cbioportal
8	ARID1A	Ssm	912	7,237	12.6%	cbioportal
9	SOX9	Ssm	869	7,237	12%	cbioportal
10	BRAF	Ssm	813	7,237	11.2%	cbioportal
11	KMT2D	Ssm	805	7,237	11.1%	cbioportal
15	KMT2B	Ssm	653	6,120	10.7%	cbioportal
12	RNF43	Ssm	734	7,237	10.1%	cbioportal
13	PTPRS	Ssm	708	7,237	9.8%	cbioportal
14	ZFHX3	Ssm	658	7,035	9.4%	cbioportal
16	ATM	Ssm	646	7,237	8.9%	cbioportal
17	PTPRT	Ssm	636	7,237	8.8%	cbioportal
18	KMT2C	Ssm	605	7,237	8.4%	cbioportal
19	NOTCH3	Ssm	571	7,237	7.9%	cbioportal
20	AMER1	Ssm	550	7,237	7.6%	cbioportal
21	FAT1	Ssm	550	7,237	7.6%	cbioportal
29	MSH3	Ssm	453	6,120	7.4%	cbioportal
22	CREBBP	Ssm	517	7,237	7.1%	cbioportal
23	CTNNB1	Ssm	503	7,237	7%	cbioportal
26	ANKRD11	Ssm	468	7,035	6.7%	cbioportal
44	PREX2	Ssm	404	6,120	6.6%	cbioportal
24	GRIN2A	Ssm	470	7,237	6.5%	cbioportal
25	CARD11	Ssm	469	7,237	6.5%	cbioportal
27	NOTCH1	Ssm	459	7,237	6.3%	cbioportal
28	BRCA2	Ssm	454	7,237	6.3%	cbioportal

Data updated 22 days agoSource updated 2026-09-01

Colorectal Adenocarcinoma (TCGA, Firehose Legacy) coadread_tcgaTCGA

223 cases with simple somatic mutation data · 640 cases total · 2026-01-06 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	160	223	71.7%	cbioportal
2	TP53	Ssm	120	223	53.8%	cbioportal
3	KRAS	Ssm	96	223	43%	cbioportal
4	TTN	Ssm	80	223	35.9%	cbioportal
5	SYNE1	Ssm	47	223	21.1%	cbioportal
6	LRP1B	Ssm	40	223	17.9%	cbioportal
8	MUC16	Ssm	39	223	17.5%	cbioportal
7	FAT4	Ssm	39	223	17.5%	cbioportal
9	FBXW7	Ssm	38	223	17%	cbioportal
10	LRP2	Ssm	35	223	15.7%	cbioportal
11	DMD	Ssm	34	223	15.2%	cbioportal
12	DNAH5	Ssm	34	223	15.2%	cbioportal
13	PIK3CA	Ssm	33	223	14.8%	cbioportal
14	FLG	Ssm	32	223	14.3%	cbioportal
15	ANK2	Ssm	30	223	13.5%	cbioportal
16	FAT2	Ssm	30	223	13.5%	cbioportal
17	HMCN1	Ssm	30	223	13.5%	cbioportal
18	RYR2	Ssm	29	223	13%	cbioportal
20	CSMD1	Ssm	28	223	12.6%	cbioportal
19	COL6A3	Ssm	28	223	12.6%	cbioportal
21	CSMD3	Ssm	28	223	12.6%	cbioportal
22	SDK1	Ssm	27	223	12.1%	cbioportal
26	USH2A	Ssm	26	223	11.7%	cbioportal
23	DNAH2	Ssm	26	223	11.7%	cbioportal
24	PKHD1	Ssm	26	223	11.7%	cbioportal
25	SMAD4	Ssm	26	223	11.7%	cbioportal
27	AMER1	Ssm	25	223	11.2%	cbioportal
28	ATM	Ssm	25	223	11.2%	cbioportal
29	HYDIN	Ssm	25	223	11.2%	cbioportal
30	CSMD2	Ssm	24	223	10.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Colorectal Adenocarcinoma (TCGA, Nature 2012) coadread_tcga_pubTCGA

224 cases with simple somatic mutation data · 276 cases total · 2026-02-19 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	168	224	75%	cbioportal
2	TP53	Ssm	121	224	54%	cbioportal
3	KRAS	Ssm	94	224	42%	cbioportal
4	TTN	Ssm	80	224	35.7%	cbioportal
5	SYNE1	Ssm	47	224	21%	cbioportal
6	PIK3CA	Ssm	45	224	20.1%	cbioportal
7	LRP1B	Ssm	40	224	17.9%	cbioportal
9	MUC16	Ssm	39	224	17.4%	cbioportal
8	FAT4	Ssm	39	224	17.4%	cbioportal
10	FBXW7	Ssm	37	224	16.5%	cbioportal
11	DNAH5	Ssm	34	224	15.2%	cbioportal
12	LRP2	Ssm	34	224	15.2%	cbioportal
13	DMD	Ssm	33	224	14.7%	cbioportal
14	FLG	Ssm	32	224	14.3%	cbioportal
16	FAT2	Ssm	30	224	13.4%	cbioportal
15	ANK2	Ssm	30	224	13.4%	cbioportal
17	HMCN1	Ssm	29	224	12.9%	cbioportal
18	COL6A3	Ssm	28	224	12.5%	cbioportal
19	CSMD1	Ssm	28	224	12.5%	cbioportal
21	RYR2	Ssm	28	224	12.5%	cbioportal
20	CSMD3	Ssm	28	224	12.5%	cbioportal
23	TCF7L2	Ssm	27	224	12.1%	cbioportal
22	SDK1	Ssm	27	224	12.1%	cbioportal
27	USH2A	Ssm	26	224	11.6%	cbioportal
24	DNAH2	Ssm	26	224	11.6%	cbioportal
25	PKHD1	Ssm	26	224	11.6%	cbioportal
26	SMAD4	Ssm	26	224	11.6%	cbioportal
29	AMER1	Ssm	25	224	11.2%	cbioportal
28	ACVR2A	Ssm	25	224	11.2%	cbioportal
30	ATM	Ssm	25	224	11.2%	cbioportal

Data updated 22 days agoSource updated 2026-02-19

Colorectal Adenocarcinoma (TCGA, PanCancer Atlas) coadread_tcga_pan_can_atlas_2018TCGA

534 cases with simple somatic mutation data · 594 cases total · 2026-06-05 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	387	534	72.5%	cbioportal
2	TP53	Ssm	314	534	58.8%	cbioportal
3	TTN	Ssm	257	534	48.1%	cbioportal
4	KRAS	Ssm	218	534	40.8%	cbioportal
5	PIK3CA	Ssm	147	534	27.5%	cbioportal
6	MUC16	Ssm	146	534	27.3%	cbioportal
7	SYNE1	Ssm	144	534	27%	cbioportal
8	FAT4	Ssm	124	534	23.2%	cbioportal
9	RYR2	Ssm	105	534	19.7%	cbioportal
10	OBSCN	Ssm	99	534	18.5%	cbioportal
11	ZFHX4	Ssm	95	534	17.8%	cbioportal
12	FLG	Ssm	94	534	17.6%	cbioportal
13	LRP1B	Ssm	94	534	17.6%	cbioportal
15	DNAH5	Ssm	92	534	17.2%	cbioportal
14	CSMD1	Ssm	92	534	17.2%	cbioportal
16	FBXW7	Ssm	90	534	16.9%	cbioportal
17	CSMD3	Ssm	89	534	16.7%	cbioportal
18	DNAH11	Ssm	85	534	15.9%	cbioportal
19	RYR1	Ssm	83	534	15.5%	cbioportal
20	FAT3	Ssm	81	534	15.2%	cbioportal
21	PCLO	Ssm	80	534	15%	cbioportal
22	USH2A	Ssm	79	534	14.8%	cbioportal
24	RYR3	Ssm	77	534	14.4%	cbioportal
23	ABCA13	Ssm	77	534	14.4%	cbioportal
25	HYDIN	Ssm	76	534	14.2%	cbioportal
26	NEB	Ssm	74	534	13.9%	cbioportal
27	ADGRV1	Ssm	72	534	13.5%	cbioportal
28	DMD	Ssm	72	534	13.5%	cbioportal
29	ATM	Ssm	70	534	13.1%	cbioportal
30	LRP2	Ssm	70	534	13.1%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Colorectal Adenocarcinoma Triplets (MSK, Genome Biol 2014) coadread_mskccMSK

138 cases with simple somatic mutation data · 138 cases total · 2026-01-06 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	125	138	90.6%	cbioportal
2	TP53	Ssm	111	138	80.4%	cbioportal
3	KRAS	Ssm	76	138	55.1%	cbioportal
4	PIK3CA	Ssm	27	138	19.6%	cbioportal
5	SMAD4	Ssm	17	138	12.3%	cbioportal
6	AMER1	Ssm	12	138	8.7%	cbioportal
7	FBXW7	Ssm	12	138	8.7%	cbioportal
8	CTNNB1	Ssm	10	138	7.2%	cbioportal
9	ERBB3	Ssm	8	138	5.8%	cbioportal
11	PTPRS	Ssm	7	138	5.1%	cbioportal
10	EPHA5	Ssm	7	138	5.1%	cbioportal
13	BRAF	Ssm	6	138	4.3%	cbioportal
12	ASXL1	Ssm	6	138	4.3%	cbioportal
14	CREBBP	Ssm	6	138	4.3%	cbioportal
15	AR	Ssm	5	138	3.6%	cbioportal
18	ERBB2	Ssm	5	138	3.6%	cbioportal
19	GRIN2A	Ssm	5	138	3.6%	cbioportal
17	EPHB1	Ssm	5	138	3.6%	cbioportal
16	ATRX	Ssm	5	138	3.6%	cbioportal
29	MAGI2	Ssm	4	138	2.9%	cbioportal
28	KMT2D	Ssm	4	138	2.9%	cbioportal
27	JAK1	Ssm	4	138	2.9%	cbioportal
26	GNAS	Ssm	4	138	2.9%	cbioportal
25	FLT1	Ssm	4	138	2.9%	cbioportal
24	FLCN	Ssm	4	138	2.9%	cbioportal
23	ERBB4	Ssm	4	138	2.9%	cbioportal
22	EPHB4	Ssm	4	138	2.9%	cbioportal
21	EPHA7	Ssm	4	138	2.9%	cbioportal
20	EPHA6	Ssm	4	138	2.9%	cbioportal
35	NTRK2	Ssm	4	138	2.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Colorectal Cancer (CAS Shanghai, Cancer Cell 2020) coadread_cass_2020CAS Shanghai

146 cases with simple somatic mutation data · 146 cases total · 2026-01-06 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	95	146	65.1%	cbioportal
2	TP53	Ssm	93	146	63.7%	cbioportal
3	TTN	Ssm	57	146	39%	cbioportal
4	KRAS	Ssm	47	146	32.2%	cbioportal
5	MUC16	Ssm	34	146	23.3%	cbioportal
6	FLG	Ssm	28	146	19.2%	cbioportal
7	OBSCN	Ssm	27	146	18.5%	cbioportal
8	PRRC2A	Ssm	26	146	17.8%	cbioportal
10	PLEC	Ssm	25	146	17.1%	cbioportal
9	MUC5B	Ssm	25	146	17.1%	cbioportal
12	LRP1B	Ssm	24	146	16.4%	cbioportal
11	FAT3	Ssm	24	146	16.4%	cbioportal
13	SOX9	Ssm	24	146	16.4%	cbioportal
15	PPFIA4	Ssm	23	146	15.8%	cbioportal
14	FBXW7	Ssm	23	146	15.8%	cbioportal
17	HYDIN	Ssm	22	146	15.1%	cbioportal
16	CPD	Ssm	22	146	15.1%	cbioportal
18	RYR1	Ssm	22	146	15.1%	cbioportal
21	MTUS2	Ssm	21	146	14.4%	cbioportal
20	CACNA1H	Ssm	21	146	14.4%	cbioportal
19	AHNAK2	Ssm	21	146	14.4%	cbioportal
24	NUPR2	Ssm	20	146	13.7%	cbioportal
22	FSIP2	Ssm	20	146	13.7%	cbioportal
23	MUC4	Ssm	20	146	13.7%	cbioportal
28	ZNF469	Ssm	19	146	13%	cbioportal
25	CSMD1	Ssm	19	146	13%	cbioportal
26	HSPG2	Ssm	19	146	13%	cbioportal
27	SMAD4	Ssm	19	146	13%	cbioportal
30	CSMD2	Ssm	18	146	12.3%	cbioportal
29	COL5A1	Ssm	18	146	12.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Colorectal Cancer- ChangKang Project (SYSUCC, Nat Commun 2022) crc_sysucc_2022SYSUCC

1,015 cases with simple somatic mutation data · 1,015 cases total · 2026-01-19 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	458	1,015	45.1%	cbioportal
2	APC	Ssm	451	1,015	44.4%	cbioportal
3	TTN	Ssm	278	1,015	27.4%	cbioportal
4	KRAS	Ssm	239	1,015	23.5%	cbioportal
5	MUC16	Ssm	167	1,015	16.5%	cbioportal
6	SYNE1	Ssm	147	1,015	14.5%	cbioportal
7	PIK3CA	Ssm	130	1,015	12.8%	cbioportal
8	OBSCN	Ssm	126	1,015	12.4%	cbioportal
9	FBXW7	Ssm	121	1,015	11.9%	cbioportal
10	FLG	Ssm	116	1,015	11.4%	cbioportal
11	FAT4	Ssm	112	1,015	11%	cbioportal
12	RYR2	Ssm	112	1,015	11%	cbioportal
13	ZFHX4	Ssm	108	1,015	10.6%	cbioportal
14	LRP1B	Ssm	105	1,015	10.3%	cbioportal
15	RYR1	Ssm	101	1,015	10%	cbioportal
16	CSMD3	Ssm	100	1,015	9.9%	cbioportal
17	NEB	Ssm	97	1,015	9.6%	cbioportal
18	PCLO	Ssm	97	1,015	9.6%	cbioportal
19	DNAH11	Ssm	96	1,015	9.5%	cbioportal
20	USH2A	Ssm	95	1,015	9.4%	cbioportal
21	ABCA13	Ssm	93	1,015	9.2%	cbioportal
22	MUC5B	Ssm	93	1,015	9.2%	cbioportal
23	DNAH5	Ssm	92	1,015	9.1%	cbioportal
24	APOB	Ssm	91	1,015	9%	cbioportal
25	CSMD1	Ssm	90	1,015	8.9%	cbioportal
26	TCF7L2	Ssm	90	1,015	8.9%	cbioportal
27	FAT3	Ssm	87	1,015	8.6%	cbioportal
28	RYR3	Ssm	83	1,015	8.2%	cbioportal
29	AHNAK2	Ssm	82	1,015	8.1%	cbioportal
30	HMCN1	Ssm	82	1,015	8.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-19

Colorectal Cancer (HTAN MSK, Nature 2025) crc_hta8_htan_2024HTAN MSK

28 cases with simple somatic mutation data · 83 cases total · 2026-02-17 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	26	28	92.9%	cbioportal
2	APC	Ssm	23	28	82.1%	cbioportal
3	KRAS	Ssm	10	28	35.7%	cbioportal
5	TCF7L2	Ssm	5	28	17.9%	cbioportal
4	FBXW7	Ssm	5	28	17.9%	cbioportal
6	PIK3CA	Ssm	4	28	14.3%	cbioportal
7	ATM	Ssm	3	28	10.7%	cbioportal
8	SOX9	Ssm	3	28	10.7%	cbioportal
19	RB1	Ssm	2	28	7.1%	cbioportal
18	NRAS	Ssm	2	28	7.1%	cbioportal
17	MDC1	Ssm	2	28	7.1%	cbioportal
16	KMT2C	Ssm	2	28	7.1%	cbioportal
15	KMT2B	Ssm	2	28	7.1%	cbioportal
14	JUN	Ssm	2	28	7.1%	cbioportal
13	INHBA	Ssm	2	28	7.1%	cbioportal
12	GNA11	Ssm	2	28	7.1%	cbioportal
11	FLT4	Ssm	2	28	7.1%	cbioportal
10	CARD11	Ssm	2	28	7.1%	cbioportal
9	BARD1	Ssm	2	28	7.1%	cbioportal
20	SMAD4	Ssm	2	28	7.1%	cbioportal
21	AMER1	Ssm	1	28	3.6%	cbioportal
26	B2M	Ssm	1	28	3.6%	cbioportal
27	BCOR	Ssm	1	28	3.6%	cbioportal
28	BRAF	Ssm	1	28	3.6%	cbioportal
29	BRCA2	Ssm	1	28	3.6%	cbioportal
25	AXL	Ssm	1	28	3.6%	cbioportal
24	AXIN2	Ssm	1	28	3.6%	cbioportal
23	ASXL1	Ssm	1	28	3.6%	cbioportal
22	ARID1A	Ssm	1	28	3.6%	cbioportal
49	GNAQ	Ssm	1	28	3.6%	cbioportal

Data updated 22 days agoSource updated 2026-02-17

Colorectal Cancer (MSK, Cancer Discovery 2022) coadread_mskresistance_2022MSK

22 cases with simple somatic mutation data · 22 cases total · 2026-01-06 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	22	22	100%	cbioportal
2	APC	Ssm	21	22	95.5%	cbioportal
3	TP53	Ssm	21	22	95.5%	cbioportal
7	USP8	Ssm	13	19	68.4%	cbioportal
4	SMAD4	Ssm	14	22	63.6%	cbioportal
9	HLA-C	Ssm	12	19	63.2%	cbioportal
6	PDCD1	Ssm	13	22	59.1%	cbioportal
5	ATM	Ssm	13	22	59.1%	cbioportal
12	TET2	Ssm	12	22	54.5%	cbioportal
8	ABRAXAS1	Ssm	12	22	54.5%	cbioportal
10	MGA	Ssm	12	22	54.5%	cbioportal
11	PIK3C2G	Ssm	12	22	54.5%	cbioportal
15	ZFHX3	Ssm	11	22	50%	cbioportal
14	TCF7L2	Ssm	11	22	50%	cbioportal
13	HLA-A	Ssm	11	22	50%	cbioportal
50	SETDB1	Ssm	9	19	47.4%	cbioportal
42	GAB1	Ssm	9	19	47.4%	cbioportal
22	JAK1	Ssm	10	22	45.5%	cbioportal
24	MLH1	Ssm	10	22	45.5%	cbioportal
25	MST1R	Ssm	10	22	45.5%	cbioportal
26	MYCN	Ssm	10	22	45.5%	cbioportal
27	NEGR1	Ssm	10	22	45.5%	cbioportal
33	STAT3	Ssm	10	22	45.5%	cbioportal
23	KMT2D	Ssm	10	22	45.5%	cbioportal
16	ALK	Ssm	10	22	45.5%	cbioportal
17	AMER1	Ssm	10	22	45.5%	cbioportal
18	BRCA1	Ssm	10	22	45.5%	cbioportal
19	ERCC5	Ssm	10	22	45.5%	cbioportal
20	FANCA	Ssm	10	22	45.5%	cbioportal
21	IGF1	Ssm	10	22	45.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Colorectal Cancer (MSK, Gastroenterology 2020) crc_apc_impact_2020MSK

471 cases with simple somatic mutation data · 471 cases total · 2026-01-07 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	345	471	73.2%	cbioportal
2	APC	Ssm	325	471	69%	cbioportal
3	KRAS	Ssm	238	471	50.5%	cbioportal
4	PIK3CA	Ssm	88	471	18.7%	cbioportal
5	SMAD4	Ssm	69	471	14.6%	cbioportal
6	BRAF	Ssm	58	471	12.3%	cbioportal
7	FBXW7	Ssm	51	471	10.8%	cbioportal
12	TCF7L2	Ssm	36	392	9.2%	cbioportal
8	SOX9	Ssm	39	471	8.3%	cbioportal
9	RNF43	Ssm	38	471	8.1%	cbioportal
10	ARID1A	Ssm	36	471	7.6%	cbioportal
11	KMT2D	Ssm	36	471	7.6%	cbioportal
13	PTPRS	Ssm	33	471	7%	cbioportal
102	KMT2B	Ssm	10	153	6.5%	cbioportal
14	CTNNB1	Ssm	28	471	5.9%	cbioportal
23	ZFHX3	Ssm	22	392	5.6%	cbioportal
15	ERBB4	Ssm	26	471	5.5%	cbioportal
17	PTPRT	Ssm	25	471	5.3%	cbioportal
16	ATM	Ssm	25	471	5.3%	cbioportal
19	NF1	Ssm	24	471	5.1%	cbioportal
18	AMER1	Ssm	24	471	5.1%	cbioportal
21	SMARCA4	Ssm	23	471	4.9%	cbioportal
20	PTEN	Ssm	23	471	4.9%	cbioportal
32	ANKRD11	Ssm	19	392	4.8%	cbioportal
22	ERBB3	Ssm	22	471	4.7%	cbioportal
162	PREX2	Ssm	7	153	4.6%	cbioportal
151	INPPL1	Ssm	7	153	4.6%	cbioportal
24	BCOR	Ssm	21	471	4.5%	cbioportal
26	FLT4	Ssm	21	471	4.5%	cbioportal
27	NOTCH3	Ssm	21	471	4.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Colorectal Cancer (MSK, JCO Precis Oncol 2022) crc_dd_2022MSK

47 cases with simple somatic mutation data · 47 cases total · 2026-01-16 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	45	47	95.7%	cbioportal
2	APC	Ssm	39	47	83%	cbioportal
3	TP53	Ssm	20	47	42.6%	cbioportal
5	TCF7L2	Ssm	17	45	37.8%	cbioportal
4	PIK3CA	Ssm	17	47	36.2%	cbioportal
7	PTPRS	Ssm	14	47	29.8%	cbioportal
6	NRAS	Ssm	14	47	29.8%	cbioportal
8	FBXW7	Ssm	13	47	27.7%	cbioportal
9	ARID1A	Ssm	12	47	25.5%	cbioportal
10	FLT4	Ssm	12	47	25.5%	cbioportal
11	CREBBP	Ssm	11	47	23.4%	cbioportal
13	SOX9	Ssm	11	47	23.4%	cbioportal
12	SMAD4	Ssm	11	47	23.4%	cbioportal
22	KMT2B	Ssm	9	40	22.5%	cbioportal
17	NOTCH3	Ssm	10	47	21.3%	cbioportal
16	KMT2A	Ssm	10	47	21.3%	cbioportal
15	FAT1	Ssm	10	47	21.3%	cbioportal
19	PTEN	Ssm	10	47	21.3%	cbioportal
18	POLE	Ssm	10	47	21.3%	cbioportal
14	AMER1	Ssm	10	47	21.3%	cbioportal
25	ZFHX3	Ssm	9	45	20%	cbioportal
24	SPEN	Ssm	9	47	19.1%	cbioportal
20	AXIN2	Ssm	9	47	19.1%	cbioportal
21	BCOR	Ssm	9	47	19.1%	cbioportal
23	KMT2D	Ssm	9	47	19.1%	cbioportal
39	INPPL1	Ssm	7	40	17.5%	cbioportal
28	EPHA5	Ssm	8	47	17%	cbioportal
30	PIK3R1	Ssm	8	47	17%	cbioportal
29	MSH6	Ssm	8	47	17%	cbioportal
27	CIC	Ssm	8	47	17%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Colorectal Cancer Radiation (MSK, 2024) rectal_radiation_msk_2024MSK

48 cases with simple somatic mutation data · 48 cases total · 2026-01-20 · mapped to Rectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	36	48	75%	cbioportal
5	TTN	Ssm	9	17	52.9%	cbioportal
2	APC	Ssm	23	48	47.9%	cbioportal
3	KRAS	Ssm	17	48	35.4%	cbioportal
12	SPTBN4	Ssm	6	17	35.3%	cbioportal
13	SYNE1	Ssm	6	17	35.3%	cbioportal
9	BSN	Ssm	6	17	35.3%	cbioportal
16	MAST4	Ssm	5	17	29.4%	cbioportal
15	DNAH11	Ssm	5	17	29.4%	cbioportal
4	SMAD4	Ssm	12	48	25%	cbioportal
19	ARHGAP24	Ssm	4	17	23.5%	cbioportal
23	FLG	Ssm	4	17	23.5%	cbioportal
33	TBL3	Ssm	4	17	23.5%	cbioportal
30	PAPLN	Ssm	4	17	23.5%	cbioportal
18	ACTA1	Ssm	4	17	23.5%	cbioportal
63	JAKMIP1	Ssm	3	17	17.6%	cbioportal
66	MMP16	Ssm	3	17	17.6%	cbioportal
87	SLC13A1	Ssm	3	17	17.6%	cbioportal
88	SLFNL1	Ssm	3	17	17.6%	cbioportal
90	SUN2	Ssm	3	17	17.6%	cbioportal
65	LRP4	Ssm	3	17	17.6%	cbioportal
95	UCP1	Ssm	3	17	17.6%	cbioportal
69	NEB	Ssm	3	17	17.6%	cbioportal
62	ITIH5	Ssm	3	17	17.6%	cbioportal
67	MUC16	Ssm	3	17	17.6%	cbioportal
85	SAMD9L	Ssm	3	17	17.6%	cbioportal
92	TLN1	Ssm	3	17	17.6%	cbioportal
93	TRPC3	Ssm	3	17	17.6%	cbioportal
94	TSKS	Ssm	3	17	17.6%	cbioportal
86	SERPINB2	Ssm	3	17	17.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-20

Combined Hepatocellular and Intrahepatic Cholangiocarcinoma (Peking University, Cancer Cell 2019) hccihch_pku_2019Peking University

173 cases with simple somatic mutation data · 173 cases total · 2026-01-07 · mapped to Combined Hepatocellular Carcinoma and Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	74	173	42.8%	cbioportal
2	TTN	Ssm	28	173	16.2%	cbioportal
3	MUC16	Ssm	25	173	14.5%	cbioportal
4	CSMD3	Ssm	21	173	12.1%	cbioportal
5	ADGRV1	Ssm	18	173	10.4%	cbioportal
6	LRP1B	Ssm	17	173	9.8%	cbioportal
7	ABCA13	Ssm	16	173	9.2%	cbioportal
8	KMT2D	Ssm	15	173	8.7%	cbioportal
9	ARID1A

Data updated 22 days agoSource updated 2026-01-07

Comprehensive genomic characterization of radiation-related papillary thyroid cancer in the Ukraine REBC-THYRREBC

394 cases with simple somatic mutation data · 449 cases total · Data Release 46.0 · mapped to Thyroid Gland Papillary Carcinoma ALIAS

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	OR11H12	Ssm	104	394	26.4%	gdc
3	KCNE1B	Ssm	99	394	25.1%	gdc
4	SMIM34B	Ssm	99	394	25.1%	gdc
5	FAM243B	Ssm	99	394	25.1%	gdc
2	SMIM11B	Ssm	99	394	25.1%	gdc
6	OR11H1	Ssm	98	394	24.9%	gdc
7	POTEH	Ssm	96	394	24.4%	gdc
8	CNTNAP3C	Ssm	89	394	22.6%	gdc
9	SPATA31A7	Ssm

Data updated 23 days agoSource updated Data Release 46.0

Count Me In (CMI): The Angiosarcoma (ASC) Project CMI-ASCCMI

36 cases with simple somatic mutation data · 36 cases total · Data Release 46.0 · mapped to Angiosarcoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	11	36	30.6%	gdc
3	CSMD3	Ssm	7	36	19.4%	gdc
9	OTOG	Ssm	7	36	19.4%	gdc
8	RYR2	Ssm	7	36	19.4%	gdc
7	AHNAK2	Ssm	7	36	19.4%	gdc
6	DUOX2	Ssm	7	36	19.4%	gdc
5	MYH14	Ssm	7	36	19.4%	gdc
4	PCDH15	Ssm	7	36	19.4%	gdc
2	LRP2	Ssm	7	36	19.4%	gdc
29	POT1	Ssm	6	36	16.7%	gdc
10	ARAP2	Ssm	6	36	16.7%	gdc
11	ALK	Ssm	6	36	16.7%	gdc
12	FREM2	Ssm	6	36	16.7%	gdc
13	PIK3CA	Ssm	6	36	16.7%	gdc
30	MUC12	Ssm	6	36	16.7%	gdc
14	PPFIA2	Ssm	6	36	16.7%	gdc
15	FLG	Ssm	6	36	16.7%	gdc
16	AL645922.1	Ssm	6	36	16.7%	gdc
17	MECOM	Ssm	6	36	16.7%	gdc
18	ANK3	Ssm	6	36	16.7%	gdc
19	RP1	Ssm	6	36	16.7%	gdc
20	PKHD1	Ssm	6	36	16.7%	gdc
21	NEB	Ssm	6	36	16.7%	gdc
22	MYH2	Ssm	6	36	16.7%	gdc
23	MGAM	Ssm	6	36	16.7%	gdc
24	MUC16	Ssm	6	36	16.7%	gdc
25	PLCG1	Ssm	6	36	16.7%	gdc
26	RYR3	Ssm	6	36	16.7%	gdc
27	GPR179	Ssm	6	36	16.7%	gdc
28	ABCA13	Ssm	6	36	16.7%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Count Me In (CMI): The Metastatic Breast Cancer (MBC) Project CMI-MBCCMI

174 cases with simple somatic mutation data · 200 cases total · Data Release 46.0 · mapped to Malignant Breast Neoplasm CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	58	174	33.3%	gdc
2	PIK3CA	Ssm	52	174	29.9%	gdc
3	TTN	Ssm	28	174	16.1%	gdc
4	CDH1	Ssm	22	174	12.6%	gdc
5	GATA3	Ssm	20	174	11.5%	gdc
6	HMCN1	Ssm	16	174	9.2%	gdc
7	MUC16	Ssm	13	174	7.5%	gdc
8	PTEN	Ssm	12	174	6.9%	gdc
9	TENM2	Ssm	11	174	6.3%	gdc
10	RYR1	Ssm	11	174	6.3%	gdc
14	MUC5B	Ssm	10	174	5.7%	gdc
17	RYR2	Ssm	10	174	5.7%	gdc
11	DYNC1H1	Ssm	10	174	5.7%	gdc
12	RIMS2	Ssm	10	174	5.7%	gdc
13	USH2A	Ssm	10	174	5.7%	gdc
16	NF1	Ssm	10	174	5.7%	gdc
15	RELN	Ssm	10	174	5.7%	gdc
19	MAP2K4	Ssm	9	174	5.2%	gdc
18	CUBN	Ssm	9	174	5.2%	gdc
21	ARID1A	Ssm	9	174	5.2%	gdc
20	ASTN1	Ssm	9	174	5.2%	gdc
23	CACNA1H	Ssm	8	174	4.6%	gdc
22	DST	Ssm	8	174	4.6%	gdc
30	HERC2	Ssm	8	174	4.6%	gdc
29	KMT2C	Ssm	8	174	4.6%	gdc
27	TBX3	Ssm	8	174	4.6%	gdc
28	KIAA1109	Ssm	8	174	4.6%	gdc
26	DMD	Ssm	8	174	4.6%	gdc
25	ZFHX4	Ssm	8	174	4.6%	gdc
24	GVINP1	Ssm	8	174	4.6%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Count Me In (CMI): The Metastatic Prostate Cancer (MPC) Project CMI-MPCCMI

60 cases with simple somatic mutation data · 63 cases total · Data Release 46.0 · mapped to Malignant Prostate Neoplasm CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	17	60	28.3%	gdc
2	RIMS2	Ssm	9	60	15%	gdc
4	FOXA1	Ssm	8	60	13.3%	gdc
3	SPOP	Ssm	8	60	13.3%	gdc
5	TTN	Ssm	7	60	11.7%	gdc
8	HMCN1	Ssm	5	60	8.3%	gdc
6	XIAP	Ssm	5	60	8.3%	gdc
9	XPO5	Ssm	5	60	8.3%	gdc
7	PTEN	Ssm	5	60	8.3%	gdc
10	FAM161A	Ssm	5	60	8.3%	gdc
13	DNAH3	Ssm	4	60	6.7%	gdc
14	TYK2	Ssm	4	60	6.7%	gdc
21	NOTCH1	Ssm	4	60	6.7%	gdc
11	SDK1	Ssm	4	60	6.7%	gdc
15	MUC4	Ssm	4	60	6.7%	gdc
16	DCHS2	Ssm	4	60	6.7%	gdc
17	MUC16	Ssm	4	60	6.7%	gdc
18	KMT2D	Ssm	4	60	6.7%	gdc
19	MGA	Ssm	4	60	6.7%	gdc
20	OBSCN	Ssm	4	60	6.7%	gdc
12	DNAH17	Ssm	4	60	6.7%	gdc
26	MYH7B	Ssm	3	60	5%	gdc
30	PADI4	Ssm	3	60	5%	gdc
29	OR4C13	Ssm	3	60	5%	gdc
28	ABCC12	Ssm	3	60	5%	gdc
27	RBBP8NL	Ssm	3	60	5%	gdc
25	YIPF3	Ssm	3	60	5%	gdc
24	WDFY4	Ssm	3	60	5%	gdc
23	C4orf54	Ssm	3	60	5%	gdc
22	ANAPC5	Ssm	3	60	5%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Cutaneous Melanoma (TCGA GDC, 2025) skcm_tcga_gdcTCGA GDC

469 cases with simple somatic mutation data · 473 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	337	469	71.9%	cbioportal
2	MUC16	Ssm	311	469	66.3%	cbioportal
3	BRAF	Ssm	235	469	50.1%	cbioportal
4	DNAH5	Ssm	231	469	49.3%	cbioportal
5	PCLO	Ssm	209	469	44.6%	cbioportal
6	LRP1B	Ssm	182	469	38.8%	cbioportal
7	ADGRV1	Ssm	166	469	35.4%	cbioportal
8	ANK3	Ssm	158	469	33.7%	cbioportal
10	DNAH7	Ssm	156	469	33.3%	cbioportal
9	CSMD1	Ssm	156	469	33.3%	cbioportal
11	MGAM	Ssm	152	469	32.4%	cbioportal
13	RP1	Ssm	151	469	32.2%	cbioportal
12	PKHD1L1	Ssm	151	469	32.2%	cbioportal
14	XIRP2	Ssm	151	469	32.2%	cbioportal
15	HYDIN	Ssm	149	469	31.8%	cbioportal
16	FAT4	Ssm	148	469	31.6%	cbioportal
18	DSCAM	Ssm	145	469	30.9%	cbioportal
17	APOB	Ssm	145	469	30.9%	cbioportal
19	FLG	Ssm	143	469	30.5%	cbioportal
20	DNAH8	Ssm	142	469	30.3%	cbioportal
22	USH2A	Ssm	141	469	30.1%	cbioportal
21	CSMD3	Ssm	141	469	30.1%	cbioportal
24	THSD7B	Ssm	139	469	29.6%	cbioportal
23	MUC17	Ssm	139	469	29.6%	cbioportal
26	FAT3	Ssm	138	469	29.4%	cbioportal
25	CSMD2	Ssm	138	469	29.4%	cbioportal
27	DNAH9	Ssm	137	469	29.2%	cbioportal
28	DNAH3	Ssm	130	469	27.7%	cbioportal
29	MXRA5	Ssm	129	469	27.5%	cbioportal
30	SPHKAP	Ssm	128	469	27.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Cutaneous Squamous Cell Carcinoma (DFCI, Clin Cancer Res 2015) cscc_dfarber_2015DFCI

29 cases with simple somatic mutation data · 29 cases total · 2026-01-07 · mapped to Skin Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	23	29	79.3%	cbioportal
2	LRP2	Ssm	16	29	55.2%	cbioportal
3	PKHD1	Ssm	15	29	51.7%	cbioportal
4	SYNE1	Ssm	15	29	51.7%	cbioportal
5	CUBN	Ssm	14	29	48.3%	cbioportal
6	KMT2D	Ssm	14	29	48.3%	cbioportal
7	LRP1B	Ssm	14	29	48.3%	cbioportal
8	MUC2	Ssm	14	29	48.3%	cbioportal
9	NOTCH1	Ssm	14	29	48.3%	cbioportal
11	PRKDC	Ssm	13	29	44.8%	cbioportal
10	CDKN2A	Ssm	13	29	44.8%	cbioportal
13	ROS1	Ssm	12	29	41.4%	cbioportal
12	KIAA1549	Ssm	12	29	41.4%	cbioportal
15	PREX2	Ssm	11	29	37.9%	cbioportal
14	MAGI2	Ssm	11	29	37.9%	cbioportal
18	EP300	Ssm	10	29	34.5%	cbioportal
17	BRCA2	Ssm	10	29	34.5%	cbioportal
16	ATM	Ssm	10	29	34.5%	cbioportal
20	TET1	Ssm	10	29	34.5%	cbioportal
19	MTUS2	Ssm	10	29	34.5%	cbioportal
23	ERBB4	Ssm	9	29	31%	cbioportal
24	KDR	Ssm	9	29	31%	cbioportal
25	NOTCH2	Ssm	9	29	31%	cbioportal
21	ATR	Ssm	9	29	31%	cbioportal
22	CREBBP	Ssm	9	29	31%	cbioportal
27	AFF3	Ssm	8	29	27.6%	cbioportal
29	EPHA7	Ssm	8	29	27.6%	cbioportal
30	LAMA5	Ssm	8	29	27.6%	cbioportal
26	ADGRL2	Ssm	8	29	27.6%	cbioportal
28	ARID2	Ssm	8	29	27.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Cutaneous Squamous Cell Carcinoma (MD Anderson, Clin Cancer Res 2014) cscc_hgsc_bcm_2014MD Anderson

39 cases with simple somatic mutation data · 39 cases total · 2026-01-07 · mapped to Skin Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	37	39	94.9%	cbioportal
2	TTN	Ssm	36	39	92.3%	cbioportal
4	MUC16	Ssm	34	39	87.2%	cbioportal
3	LRP1B	Ssm	34	39	87.2%	cbioportal
5	CSMD1	Ssm	32	39	82.1%	cbioportal
6	CSMD3	Ssm	32	39	82.1%	cbioportal
7	ABCA13	Ssm	31	39	79.5%	cbioportal
9	RYR2	Ssm	31	39	79.5%	cbioportal
8	PCLO	Ssm	31	39	79.5%	cbioportal
10	PKHD1L1	Ssm	30	39	76.9%	cbioportal
11	COL11A1	Ssm	29	39	74.4%	cbioportal
13	PCDH15	Ssm	29	39	74.4%	cbioportal
12	FAT4	Ssm	29	39	74.4%	cbioportal
17	XIRP2	Ssm	28	39	71.8%	cbioportal
16	KMT2D	Ssm	28	39	71.8%	cbioportal
14	DNAH7	Ssm	28	39	71.8%	cbioportal
15	FAT3	Ssm	28	39	71.8%	cbioportal
18	ADGRV1	Ssm	27	39	69.2%	cbioportal
20	FMN2	Ssm	27	39	69.2%	cbioportal
21	MUC4	Ssm	27	39	69.2%	cbioportal
19	DNAH5	Ssm	27	39	69.2%	cbioportal
23	VCAN	Ssm	26	39	66.7%	cbioportal
22	COL1A2	Ssm	26	39	66.7%	cbioportal
24	APOB	Ssm	25	39	64.1%	cbioportal
25	MUC5B	Ssm	25	39	64.1%	cbioportal
26	RYR3	Ssm	25	39	64.1%	cbioportal
27	SPTA1	Ssm	25	39	64.1%	cbioportal
28	UNC13C	Ssm	25	39	64.1%	cbioportal
29	ZFHX4	Ssm	25	39	64.1%	cbioportal
30	AHNAK2	Ssm	24	39	61.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Cutaneous Squamous Cell Carcinoma (UCSF, NPJ Genom Med 2021) cscc_ucsf_2021UCSF

83 cases with simple somatic mutation data · 83 cases total · 2026-01-07 · mapped to Skin Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	58	83	69.9%	cbioportal
2	TP53	Ssm	55	83	66.3%	cbioportal
3	NOTCH1	Ssm	46	83	55.4%	cbioportal
4	USH2A	Ssm	40	83	48.2%	cbioportal
5	CSMD3	Ssm	39	83	47%	cbioportal
6	RELN	Ssm	39	83	47%	cbioportal
7	DNAH5	Ssm	38	83	45.8%	cbioportal
9	SPTA1	Ssm	37	83	44.6%	cbioportal
8	LRP1B	Ssm	37	83	44.6%	cbioportal
10	HMCN1	Ssm	36	83	43.4%	cbioportal
11	APOB	Ssm	35	83	42.2%	cbioportal
12	FAT4	Ssm	35	83	42.2%	cbioportal
13	PKHD1	Ssm	33	83	39.8%	cbioportal
14	DNAH8	Ssm	32	83	38.6%	cbioportal
15	MUC16	Ssm	32	83	38.6%	cbioportal
16	PCDH15	Ssm	32	83	38.6%	cbioportal
17	SYNE1	Ssm	32	83	38.6%	cbioportal
19	COL6A3	Ssm	31	83	37.3%	cbioportal
18	COL11A1	Ssm	31	83	37.3%	cbioportal
22	NOTCH2	Ssm	30	83	36.1%	cbioportal
20	DNAH7	Ssm	30	83	36.1%	cbioportal
21	LRP2	Ssm	30	83	36.1%	cbioportal
23	RYR1	Ssm	30	83	36.1%	cbioportal
29	KALRN	Ssm	29	83	34.9%	cbioportal
24	ANK2	Ssm	29	83	34.9%	cbioportal
25	COL24A1	Ssm	29	83	34.9%	cbioportal
26	DCHS2	Ssm	29	83	34.9%	cbioportal
27	FLG	Ssm	29	83	34.9%	cbioportal
28	HYDIN	Ssm	29	83	34.9%	cbioportal
30	BLTP1	Ssm	28	83	33.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Cutaneous Squamous Cell Carcinoma (UOW, Front Oncol 2022) cscc_ranson_2022UOW

25 cases with simple somatic mutation data · 25 cases total · 2026-01-16 · mapped to Skin Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
3	TTN	Ssm	25	25	100%	cbioportal
2	MUC16	Ssm	25	25	100%	cbioportal
1	ABCA13	Ssm	25	25	100%	cbioportal
5	AHNAK2	Ssm	24	25	96%	cbioportal
7	CSMD3	Ssm	24	25	96%	cbioportal
8	MUC12	Ssm	24	25	96%	cbioportal
9	TP53	Ssm	24	25	96%	cbioportal
6	COL6A5	Ssm	24	25	96%	cbioportal
4	AHNAK	Ssm	24	25	96%	cbioportal
16	RYR2	Ssm	23	25	92%	cbioportal
10	APOB	Ssm	23	25	92%	cbioportal
12	DNAH5	Ssm	23	25	92%	cbioportal
11	CUBN	Ssm	23	25	92%	cbioportal
17	ZNF804B	Ssm	23	25	92%	cbioportal
13	FAT3	Ssm	23	25	92%	cbioportal
14	HYDIN	Ssm	23	25	92%	cbioportal
15	RP1	Ssm	23	25	92%	cbioportal
19	LRP1B	Ssm	22	25	88%	cbioportal
22	PLEC	Ssm	22	25	88%	cbioportal
23	RYR3	Ssm	22	25	88%	cbioportal
24	SYNE1	Ssm	22	25	88%	cbioportal
25	USH2A	Ssm	22	25	88%	cbioportal
26	WDFY4	Ssm	22	25	88%	cbioportal
27	ZNF469	Ssm	22	25	88%	cbioportal
18	HMCN1	Ssm	22	25	88%	cbioportal
20	MUC5B	Ssm	22	25	88%	cbioportal
21	PCLO	Ssm	22	25	88%	cbioportal
29	ANK2	Ssm	21	25	84%	cbioportal
30	C6	Ssm	21	25	84%	cbioportal
28	ADGRV1	Ssm	21	25	84%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Cutaneous T Cell Lymphoma (Columbia U, Nat Genet 2015) ctcl_columbia_2015Columbia U

43 cases with simple somatic mutation data · 43 cases total · 2026-01-07 · mapped to Non-Hodgkin Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PCLO	Ssm	8	43	18.6%	cbioportal
2	DNAH5	Ssm	6	43	14%	cbioportal
3	MUC5B	Ssm	6	43	14%	cbioportal
5	LRP1B	Ssm	5	43	11.6%	cbioportal
4	AHNAK2	Ssm	5	43	11.6%	cbioportal
6	TENM4	Ssm	5	43	11.6%	cbioportal
8	FBN2	Ssm	4	43	9.3%	cbioportal
12	SPATA31D1	Ssm	4	43	9.3%	cbioportal
11	SLC8A1	Ssm	4	43	9.3%	cbioportal
9	MMP16	Ssm	4	43	9.3%	cbioportal
10	RELN	Ssm	4	43	9.3%	cbioportal
13	TP53	Ssm	4	43	9.3%	cbioportal
7	DNAH9	Ssm	4	43	9.3%	cbioportal
23	DYSF	Ssm	3	43	7%	cbioportal
14	ABCA6	Ssm	3	43	7%	cbioportal
15	ARHGEF17	Ssm	3	43	7%	cbioportal
16	CLSTN2	Ssm	3	43	7%	cbioportal
17	CNTN6	Ssm	3	43	7%	cbioportal
18	COL12A1	Ssm	3	43	7%	cbioportal
19	COL24A1	Ssm	3	43	7%	cbioportal
20	CR1	Ssm	3	43	7%	cbioportal
21	DSPP	Ssm	3	43	7%	cbioportal
22	DST	Ssm	3	43	7%	cbioportal
24	ERBB2	Ssm	3	43	7%	cbioportal
25	F9	Ssm	3	43	7%	cbioportal
26	FAM47C	Ssm	3	43	7%	cbioportal
27	FAT4	Ssm	3	43	7%	cbioportal
28	FLNC	Ssm	3	43	7%	cbioportal
29	FNDC1	Ssm	3	43	7%	cbioportal
30	GUCY2F	Ssm	3	43	7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Desmoplastic Melanoma (Broad Institute, Nat Genet 2015) desm_broad_2015Broad Institute

20 cases with simple somatic mutation data · 20 cases total · 2026-01-07 · mapped to Desmoplastic Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	18	20	90%	cbioportal
3	MUC16	Ssm	16	20	80%	cbioportal
2	DSCAM	Ssm	16	20	80%	cbioportal
4	PCLO	Ssm	15	20	75%	cbioportal
5	DNAH5	Ssm	14	20	70%	cbioportal
9	PKHD1L1	Ssm	13	20	65%	cbioportal
8	LRP1B	Ssm	13	20	65%	cbioportal
7	FSIP2	Ssm	13	20	65%	cbioportal
6	DCC	Ssm	13	20	65%	cbioportal
10	DNAH7	Ssm	12	20	60%	cbioportal
11	GRIN2A	Ssm	12	20	60%	cbioportal
14	MUC17	Ssm	11	20	55%	cbioportal
21	WDR87	Ssm	11	20	55%	cbioportal
22	ZNF536	Ssm	11	20	55%	cbioportal
23	ZNF831	Ssm	11	20	55%	cbioportal
15	MXRA5	Ssm	11	20	55%	cbioportal
16	NEB	Ssm	11	20	55%	cbioportal
17	NEXMIF	Ssm	11	20	55%	cbioportal
18	SPHKAP	Ssm	11	20	55%	cbioportal
19	SYNE1	Ssm	11	20	55%	cbioportal
12	CSMD1	Ssm	11	20	55%	cbioportal
13	DNAH6	Ssm	11	20	55%	cbioportal
20	UNC13C	Ssm	11	20	55%	cbioportal
24	ANK3	Ssm	10	20	50%	cbioportal
37	RP1	Ssm	10	20	50%	cbioportal
38	RYR3	Ssm	10	20	50%	cbioportal
39	SCN9A	Ssm	10	20	50%	cbioportal
40	SVEP1	Ssm	10	20	50%	cbioportal
41	THSD7B	Ssm	10	20	50%	cbioportal
42	ZFHX4	Ssm	10	20	50%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Diffuse Glioma (GLASS Consortium) difg_glassGLASS Consortium

629 cases with simple somatic mutation data · 693 cases total · 2026-08-20 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	273	629	43.4%	cbioportal
2	IDH1	Ssm	227	629	36.1%	cbioportal
3	TTN	Ssm	147	629	23.4%	cbioportal
4	PTEN	Ssm	143	629	22.7%	cbioportal
5	ATRX	Ssm	139	629	22.1%	cbioportal
6	EGFR	Ssm	112	629	17.8%	cbioportal
7	MUC16	Ssm	106	629	16.9%	cbioportal
8	NF1	Ssm	97	629	15.4%	cbioportal
9	RYR2	Ssm	81	629	12.9%	cbioportal
10	OBSCN	Ssm	70	629	11.1%	cbioportal
11	PIK3CA	Ssm	69	629	11%	cbioportal
12	PKHD1	Ssm	66	629	10.5%	cbioportal
13	MUC17	Ssm	65	629	10.3%	cbioportal
14	MUC12	Ssm	62	629	9.9%	cbioportal
15	FLG	Ssm	61	629	9.7%	cbioportal
16	ADGRV1	Ssm	58	629	9.2%	cbioportal
17	HMCN1	Ssm	58	629	9.2%	cbioportal
19	LRP2	Ssm	56	629	8.9%	cbioportal
18	AHNAK2	Ssm	56	629	8.9%	cbioportal
20	CSMD3	Ssm	54	629	8.6%	cbioportal
21	PCLO	Ssm	54	629	8.6%	cbioportal
22	RYR1	Ssm	54	629	8.6%	cbioportal
23	CIC	Ssm	53	629	8.4%	cbioportal
24	DNAH11	Ssm	52	629	8.3%	cbioportal
25	MUC5B	Ssm	51	629	8.1%	cbioportal
26	NEB	Ssm	51	629	8.1%	cbioportal
28	RB1	Ssm	49	629	7.8%	cbioportal
27	DNAH5	Ssm	49	629	7.8%	cbioportal
29	USH2A	Ssm	48	629	7.6%	cbioportal
30	AHNAK	Ssm	47	629	7.5%	cbioportal

Data updated 22 days agoSource updated 2026-08-20

Diffuse Glioma (GLASS Consortium, Nature 2019) difg_glass_2019GLASS Consortium

444 cases with simple somatic mutation data · 444 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	206	444	46.4%	cbioportal
2	IDH1	Ssm	174	444	39.2%	cbioportal
3	TTN	Ssm	109	444	24.5%	cbioportal
4	ATRX	Ssm	103	444	23.2%	cbioportal
5	PTEN	Ssm	101	444	22.7%	cbioportal
6	EGFR	Ssm	83	444	18.7%	cbioportal
7	MUC16	Ssm	80	444	18%	cbioportal
8	NF1	Ssm	71	444	16%	cbioportal
9	RYR2	Ssm	59	444	13.3%	cbioportal
10	OBSCN	Ssm	57	444	12.8%	cbioportal
11	FLG	Ssm	53	444	11.9%	cbioportal
12	PKHD1	Ssm	51	444	11.5%	cbioportal
13	PIK3CA	Ssm	50	444	11.3%	cbioportal
15	MUC17	Ssm	48	444	10.8%	cbioportal
14	ADGRV1	Ssm	48	444	10.8%	cbioportal
18	LRP2	Ssm	44	444	9.9%	cbioportal
17	HMCN1	Ssm	44	444	9.9%	cbioportal
16	CIC	Ssm	44	444	9.9%	cbioportal
19	DNAH11	Ssm	43	444	9.7%	cbioportal
20	DNAH5	Ssm	42	444	9.5%	cbioportal
22	CSMD3	Ssm	41	444	9.2%	cbioportal
24	NEB	Ssm	41	444	9.2%	cbioportal
21	AHNAK2	Ssm	41	444	9.2%	cbioportal
23	MUC12	Ssm	41	444	9.2%	cbioportal
25	SYNE1	Ssm	40	444	9%	cbioportal
26	MUC5B	Ssm	39	444	8.8%	cbioportal
27	PCLO	Ssm	38	444	8.6%	cbioportal
28	USH2A	Ssm	38	444	8.6%	cbioportal
29	AHNAK	Ssm	37	444	8.3%	cbioportal
30	RB1	Ssm	36	444	8.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Diffuse Glioma (TCGA GDC, 2025) difg_tcga_gdcTCGA GDC

523 cases with simple somatic mutation data · 530 cases total · 2026-01-19 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	405	523	77.4%	cbioportal
2	TP53	Ssm	250	523	47.8%	cbioportal
3	ATRX	Ssm	192	523	36.7%	cbioportal
4	CIC	Ssm	112	523	21.4%	cbioportal
5	TTN	Ssm	56	523	10.7%	cbioportal
6	FUBP1	Ssm	46	523	8.8%	cbioportal
7	PIK3CA	Ssm	43	523	8.2%	cbioportal
8	NOTCH1	Ssm	38	523	7.3%	cbioportal
9	MUC16	Ssm	33	523	6.3%	cbioportal
10	EGFR	Ssm	31	523	5.9%	cbioportal
11	NF1	Ssm	30	523	5.7%	cbioportal
12	PTEN	Ssm	25	523	4.8%	cbioportal
14	SMARCA4	Ssm	23	523	4.4%	cbioportal
13	PIK3R1	Ssm	23	523	4.4%	cbioportal
15	IDH2	Ssm	21	523	4%	cbioportal
16	RYR2	Ssm	20	523	3.8%	cbioportal
17	NIPBL	Ssm	18	523	3.4%	cbioportal
18	ZBTB20	Ssm	17	523	3.3%	cbioportal
19	FLG	Ssm	16	523	3.1%	cbioportal
21	BCOR	Ssm	15	523	2.9%	cbioportal
20	ARID1A	Ssm	15	523	2.9%	cbioportal
24	TCF12	Ssm	14	523	2.7%	cbioportal
23	PCLO	Ssm	14	523	2.7%	cbioportal
22	MUC17	Ssm	14	523	2.7%	cbioportal
26	ZNF292	Ssm	13	523	2.5%	cbioportal
25	LRP2	Ssm	13	523	2.5%	cbioportal
29	FAT2	Ssm	12	523	2.3%	cbioportal
30	FRAS1	Ssm	12	523	2.3%	cbioportal
28	ARID2	Ssm	12	523	2.3%	cbioportal
27	APOB	Ssm	12	523	2.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-19

Diffuse Large B-cell Lymphoma (BCGSC, Blood 2013) nhl_bcgsc_2013BCGSC

53 cases with simple somatic mutation data · 53 cases total · 2026-01-08 · mapped to Non-Hodgkin Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC16	Ssm	17	53	32.1%	cbioportal
2	MUC4	Ssm	16	53	30.2%	cbioportal
3	TTN	Ssm	12	53	22.6%	cbioportal
5	KMT2D	Ssm	11	53	20.8%	cbioportal
4	EZH2	Ssm	11	53	20.8%	cbioportal
7	RP1L1	Ssm	11	53	20.8%	cbioportal
6	MUC17	Ssm	11	53	20.8%	cbioportal
8	USH2A	Ssm	10	53	18.9%	cbioportal
9	LRP1B	Ssm	9	53	17%	cbioportal
12	TP53	Ssm	9	53	17%	cbioportal
11	SYNE2	Ssm	9	53	17%	cbioportal
10	PKD1	Ssm	9	53	17%	cbioportal
15	FAT4	Ssm	8	53	15.1%	cbioportal
14	DSEL	Ssm	8	53	15.1%	cbioportal
13	DNAH5	Ssm	8	53	15.1%	cbioportal
19	SYNE1	Ssm	8	53	15.1%	cbioportal
18	PCLO	Ssm	8	53	15.1%	cbioportal
17	MUC5B	Ssm	8	53	15.1%	cbioportal
16	HRNR	Ssm	8	53	15.1%	cbioportal
28	ZFHX4	Ssm	7	53	13.2%	cbioportal
26	MYD88	Ssm	7	53	13.2%	cbioportal
25	MPDZ	Ssm	7	53	13.2%	cbioportal
24	GOLGA6L2	Ssm	7	53	13.2%	cbioportal
23	FCGBP	Ssm	7	53	13.2%	cbioportal
22	FBN2	Ssm	7	53	13.2%	cbioportal
21	CARD11	Ssm	7	53	13.2%	cbioportal
20	ADGRV1	Ssm	7	53	13.2%	cbioportal
27	TDRD15	Ssm	7	53	13.2%	cbioportal
29	AGBL1	Ssm	6	53	11.3%	cbioportal
30	BCL2	Ssm	6	53	11.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Diffuse Large B-Cell Lymphoma (Broad, PNAS 2012) dlbc_broad_2012Broad

58 cases with simple somatic mutation data · 58 cases total · 2026-01-07 · mapped to Diffuse Large B-Cell Lymphoma Unclassifiable EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PCLO	Ssm	19	58	32.8%	cbioportal
2	BCL2	Ssm	15	58	25.9%	cbioportal
3	CREBBP	Ssm	14	58	24.1%	cbioportal
5	TP53	Ssm	13	58	22.4%	cbioportal
4	FAT4	Ssm	13	58	22.4%	cbioportal
7	PIM1	Ssm	12	58	20.7%	cbioportal
6	KMT2D	Ssm	12	58	20.7%	cbioportal
8	CARD11	Ssm	11	58	19%	cbioportal
9	GNA13	Ssm	9	58	15.5%	cbioportal
10	TENM1	Ssm	9	58	15.5%	cbioportal
17	SGK1	Ssm	8	58	13.8%	cbioportal
11	BTG1	Ssm	8	58	13.8%	cbioportal
12	CSMD3	Ssm	8	58	13.8%	cbioportal
13	H1-4	Ssm	8	58	13.8%	cbioportal
14	MEF2B	Ssm	8	58	13.8%	cbioportal
15	MUC16	Ssm	8	58	13.8%	cbioportal
16	P2RY8	Ssm	8	58	13.8%	cbioportal
18	TNFRSF14	Ssm	8	58	13.8%	cbioportal
22	MYD88	Ssm	7	58	12.1%	cbioportal
19	CD79B	Ssm	7	58	12.1%	cbioportal
20	FAT1	Ssm	7	58	12.1%	cbioportal
21	LRRN3	Ssm	7	58	12.1%	cbioportal
23	UNC5D	Ssm	7	58	12.1%	cbioportal
29	EZH2	Ssm	6	58	10.3%	cbioportal
24	ABCA13	Ssm	6	58	10.3%	cbioportal
25	ATRX	Ssm	6	58	10.3%	cbioportal
26	B2M	Ssm	6	58	10.3%	cbioportal
27	BCR	Ssm	6	58	10.3%	cbioportal
28	BIRC6	Ssm	6	58	10.3%	cbioportal
30	H1-2	Ssm	6	58	10.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Diffuse Large B cell Lymphoma (DFCI, Nat Med 2018) dlbcl_dfci_2018DFCI

135 cases with simple somatic mutation data · 135 cases total · 2026-01-07 · mapped to Diffuse Large B-Cell Lymphoma Unclassifiable EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KMT2D	Ssm	35	135	25.9%	cbioportal
2	PCLO	Ssm	32	135	23.7%	cbioportal
4	TP53	Ssm	31	135	23%	cbioportal
3	PIM1	Ssm	31	135	23%	cbioportal
5	BCL2	Ssm	30	135	22.2%	cbioportal
6	CREBBP	Ssm	28	135	20.7%	cbioportal
7	BTG1	Ssm	25	135	18.5%	cbioportal
8	MYD88	Ssm	22	135	16.3%	cbioportal
10	FAT4	Ssm	20	135	14.8%	cbioportal
9	CD79B	Ssm	20	135	14.8%	cbioportal
11	SGK1	Ssm	19	135	14.1%	cbioportal
12	CARD11	Ssm	18	135	13.3%	cbioportal
13	TTN	Ssm	18	135	13.3%	cbioportal
15	TNFRSF14	Ssm	17	135	12.6%	cbioportal
14	FAT1	Ssm	17	135	12.6%	cbioportal
18	USH2A	Ssm	16	135	11.9%	cbioportal
16	CSMD3	Ssm	16	135	11.9%	cbioportal
17	H1-2	Ssm	16	135	11.9%	cbioportal
20	ZFP36L1	Ssm	15	135	11.1%	cbioportal
19	ACTB	Ssm	15	135	11.1%	cbioportal
22	LRP1B	Ssm	14	135	10.4%	cbioportal
23	MUC16	Ssm	14	135	10.4%	cbioportal
21	H1-4	Ssm	14	135	10.4%	cbioportal
25	SYNE1	Ssm	13	135	9.6%	cbioportal
26	TBL1XR1	Ssm	13	135	9.6%	cbioportal
24	CD70	Ssm	13	135	9.6%	cbioportal
29	GNA13	Ssm	12	135	8.9%	cbioportal
30	HLA-A	Ssm	12	135	8.9%	cbioportal
27	BCL6	Ssm	12	135	8.9%	cbioportal
28	EBF1	Ssm	12	135	8.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Diffuse Large B-Cell Lymphoma (Duke, Cell 2017) dlbcl_duke_2017Duke

1,001 cases with simple somatic mutation data · 1,001 cases total · 2026-01-07 · mapped to Diffuse Large B-Cell Lymphoma Unclassifiable EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KMT2D	Ssm	247	1,001	24.7%	cbioportal
2	MYD88	Ssm	172	1,001	17.2%	cbioportal
3	PIM1	Ssm	147	1,001	14.7%	cbioportal
4	CREBBP	Ssm	115	1,001	11.5%	cbioportal
5	H1-4	Ssm	105	1,001	10.5%	cbioportal
7	SPEN	Ssm	101	1,001	10.1%	cbioportal
6	BCL2	Ssm	101	1,001	10.1%	cbioportal
8	ARID1A	Ssm	96	1,001	9.6%	cbioportal
9	TP53	Ssm	93	1,001	9.3%	cbioportal
10	SOCS1	Ssm	92	1,001	9.2%	cbioportal
11	CARD11	Ssm	89	1,001	8.9%	cbioportal
12	ARID1B	Ssm	83	1,001	8.3%	cbioportal
13	GNA13	Ssm	83	1,001	8.3%	cbioportal
14	SETD1B	Ssm	83	1,001	8.3%	cbioportal
15	TNFRSF14	Ssm	79	1,001	7.9%	cbioportal
16	DUSP2	Ssm	76	1,001	7.6%	cbioportal
17	MGA	Ssm	75	1,001	7.5%	cbioportal
18	SMARCA4	Ssm	75	1,001	7.5%	cbioportal
19	NOTCH2	Ssm	73	1,001	7.3%	cbioportal
20	ATM	Ssm	72	1,001	7.2%	cbioportal
21	ZNF608	Ssm	68	1,001	6.8%	cbioportal
23	SGK1	Ssm	67	1,001	6.7%	cbioportal
22	KLHL6	Ssm	67	1,001	6.7%	cbioportal
25	IRF8	Ssm	64	1,001	6.4%	cbioportal
26	MTOR	Ssm	64	1,001	6.4%	cbioportal
24	BIRC6	Ssm	64	1,001	6.4%	cbioportal
27	PIK3CD	Ssm	63	1,001	6.3%	cbioportal
29	TET2	Ssm	62	1,001	6.2%	cbioportal
28	SETD2	Ssm	62	1,001	6.2%	cbioportal
30	EZH2	Ssm	61	1,001	6.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Diffuse Large B-Cell Lymphoma (MSK, Haematologica 2024) mbn_msk_2024MSK

396 cases with simple somatic mutation data · 396 cases total · 2026-01-08 · mapped to B-Cell Non-Hodgkin Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KMT2D	Ssm	125	396	31.6%	cbioportal
2	TP53	Ssm	112	396	28.3%	cbioportal
3	PIM1	Ssm	104	396	26.3%	cbioportal
4	MYD88	Ssm	91	396	23%	cbioportal
5	CREBBP	Ssm	86	396	21.7%	cbioportal
6	TNFRSF14	Ssm	73	396	18.4%	cbioportal
7	H1-4	Ssm	69	396	17.4%	cbioportal
8	BTG1	Ssm	67	396	16.9%	cbioportal
9	SETD1B	Ssm	64	396	16.2%	cbioportal
10	BCL2	Ssm	63	396	15.9%	cbioportal
11	SOCS1	Ssm	62	396	15.7%	cbioportal
12	B2M	Ssm	58	396	14.6%	cbioportal
13	HLA-A	Ssm	55	396	13.9%	cbioportal
14	CD79B	Ssm	54	396	13.6%	cbioportal
15	CARD11	Ssm	50	396	12.6%	cbioportal
16	IRF8	Ssm	48	396	12.1%	cbioportal
17	DTX1	Ssm	47	396	11.9%	cbioportal
18	FAT1	Ssm	44	396	11.1%	cbioportal
19	ARID1A	Ssm	43	396	10.9%	cbioportal
20	EZH2	Ssm	43	396	10.9%	cbioportal
21	TBL1XR1	Ssm	42	396	10.6%	cbioportal
22	EP300	Ssm	41	396	10.4%	cbioportal
23	TNFAIP3	Ssm	41	396	10.4%	cbioportal
24	FAS	Ssm	40	396	10.1%	cbioportal
27	SGK1	Ssm	39	396	9.8%	cbioportal
25	CD58	Ssm	39	396	9.8%	cbioportal
26	IRF4	Ssm	39	396	9.8%	cbioportal
28	GNA13	Ssm	37	396	9.3%	cbioportal
29	H1-2	Ssm	36	396	9.1%	cbioportal
30	CCND3	Ssm	35	396	8.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Diffuse Large B-Cell Lymphoma, NOS (TCGA GDC, 2025) dlbclnos_tcga_gdcTCGA GDC

36 cases with simple somatic mutation data · 48 cases total · 2026-01-13 · mapped to Diffuse Large B-Cell Lymphoma Unclassifiable EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KMT2D	Ssm	11	36	30.6%	cbioportal
2	BTG2	Ssm	10	36	27.8%	cbioportal
4	PIM1	Ssm	8	36	22.2%	cbioportal
3	CARD11	Ssm	8	36	22.2%	cbioportal
7	H1-4	Ssm	7	36	19.4%	cbioportal
8	IGHG1	Ssm	7	36	19.4%	cbioportal
9	IGHG2	Ssm	7	36	19.4%	cbioportal
10	IGHV2-70	Ssm	7	36	19.4%	cbioportal
11	IGLC2	Ssm	7	36	19.4%	cbioportal
13	PCLO	Ssm	7	36	19.4%	cbioportal
12	LRP1B	Ssm	7	36	19.4%	cbioportal
5	B2M	Ssm	7	36	19.4%	cbioportal
6	FAT4	Ssm	7	36	19.4%	cbioportal
19	P2RY8	Ssm	6	36	16.7%	cbioportal
14	H1-2	Ssm	6	36	16.7%	cbioportal
15	IGHM	Ssm	6	36	16.7%	cbioportal
16	IGLV3-1	Ssm	6	36	16.7%	cbioportal
17	ITPKB	Ssm	6	36	16.7%	cbioportal
18	MUC16	Ssm	6	36	16.7%	cbioportal
20	SOCS1	Ssm	6	36	16.7%	cbioportal
25	PLCB1	Ssm	5	36	13.9%	cbioportal
21	ASXL3	Ssm	5	36	13.9%	cbioportal
22	BTG1	Ssm	5	36	13.9%	cbioportal
23	IGLC3	Ssm	5	36	13.9%	cbioportal
24	IRF4	Ssm	5	36	13.9%	cbioportal
26	STAT3	Ssm	5	36	13.9%	cbioportal
27	SYNE1	Ssm	5	36	13.9%	cbioportal
28	TMSB4X	Ssm	5	36	13.9%	cbioportal
29	TP53	Ssm	5	36	13.9%	cbioportal
30	UBR4	Ssm	5	36	13.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Diffuse Large B-Cell Lymphoma (TCGA, PanCancer Atlas) dlbc_tcga_pan_can_atlas_2018TCGA

41 cases with simple somatic mutation data · 48 cases total · 2026-06-05 · mapped to Diffuse Large B-Cell Lymphoma Unclassifiable EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IGHV2-70	Ssm	18	41	43.9%	cbioportal
2	IGLV3-1	Ssm	14	41	34.1%	cbioportal
3	KMT2D	Ssm	12	41	29.3%	cbioportal
4	BTG2	Ssm	10	41	24.4%	cbioportal
5	IGLL5	Ssm	10	41	24.4%	cbioportal
7	IGHV1-69	Ssm	9	41	22%	cbioportal
6	B2M	Ssm	9	41	22%	cbioportal
10	IGHM	Ssm	8	41	19.5%	cbioportal
8	CARD11	Ssm	8	41	19.5%	cbioportal
9	IGHG1	Ssm	8	41	19.5%	cbioportal
11	PIM1	Ssm	8	41	19.5%	cbioportal
17	LRP1B	Ssm	7	41	17.1%	cbioportal
12	FAT4	Ssm	7	41	17.1%	cbioportal
13	H1-2	Ssm	7	41	17.1%	cbioportal
19	TMSB4X	Ssm	7	41	17.1%	cbioportal
14	H1-4	Ssm	7	41	17.1%	cbioportal
15	IGHG2	Ssm	7	41	17.1%	cbioportal
16	IGHV4-34	Ssm	7	41	17.1%	cbioportal
18	MYD88	Ssm	7	41	17.1%	cbioportal
27	PCLO	Ssm	6	41	14.6%	cbioportal
29	STAT3	Ssm	6	41	14.6%	cbioportal
28	SOCS1	Ssm	6	41	14.6%	cbioportal
30	ZFHX4	Ssm	6	41	14.6%	cbioportal
26	P2RY8	Ssm	6	41	14.6%	cbioportal
25	MUC16	Ssm	6	41	14.6%	cbioportal
24	ITPKB	Ssm	6	41	14.6%	cbioportal
23	IRF4	Ssm	6	41	14.6%	cbioportal
22	IGLC2	Ssm	6	41	14.6%	cbioportal
21	IGKV1-5	Ssm	6	41	14.6%	cbioportal
20	IGKJ4	Ssm	6	41	14.6%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Disparities in metastatic colorectal cancer between Africans and Americans (MSK, 2020) crc_nigerian_2020MSK

64 cases with simple somatic mutation data · 64 cases total · 2026-01-07 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	37	64	57.8%	cbioportal
2	KRAS	Ssm	35	64	54.7%	cbioportal
3	APC	Ssm	28	64	43.8%	cbioportal
4	PIK3CA	Ssm	16	64	25%	cbioportal
9	TCF7L2	Ssm	13	55	23.6%	cbioportal
5	ARID1A	Ssm	15	64	23.4%	cbioportal
6	CREBBP	Ssm	14	64	21.9%	cbioportal
7	KMT2C	Ssm	13	64	20.3%	cbioportal
8	PTPRS	Ssm	13	64	20.3%	cbioportal
18	ZFHX3	Ssm	10	55	18.2%	cbioportal
13	SPEN	Ssm	11	64	17.2%	cbioportal
11	PTPRT	Ssm	11	64	17.2%	cbioportal
12	SOX9	Ssm	11	64	17.2%	cbioportal
10	CIC	Ssm	11	64	17.2%	cbioportal
16	KMT2D	Ssm	10	64	15.6%	cbioportal
17	RNF43	Ssm	10	64	15.6%	cbioportal
15	FAT1	Ssm	10	64	15.6%	cbioportal
14	AMER1	Ssm	10	64	15.6%	cbioportal
20	FLT4	Ssm	9	64	14.1%	cbioportal
21	NOTCH1	Ssm	9	64	14.1%	cbioportal
19	ALK	Ssm	9	64	14.1%	cbioportal
23	POLE	Ssm	9	64	14.1%	cbioportal
22	NOTCH3	Ssm	9	64	14.1%	cbioportal
29	PIK3R1	Ssm	8	64	12.5%	cbioportal
27	MLH1	Ssm	8	64	12.5%	cbioportal
26	BRCA2	Ssm	8	64	12.5%	cbioportal
25	ARID1B	Ssm	8	64	12.5%	cbioportal
24	ABL1	Ssm	8	64	12.5%	cbioportal
30	RPS6KA4	Ssm	8	64	12.5%	cbioportal
28	NOTCH4	Ssm	8	64	12.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Endometrial cancer HR-positive (MSK, 2024) uec_msk_2024MSK

23 cases with simple somatic mutation data · 24 cases total · 2026-01-20 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	15	24	62.5%	cbioportal
2	ARID1A	Ssm	14	24	58.3%	cbioportal
3	PIK3CA	Ssm	12	24	50%	cbioportal
4	PIK3R1	Ssm	10	24	41.7%	cbioportal
5	CTNNB1	Ssm	9	24	37.5%	cbioportal
6	KRAS	Ssm	6	24	25%	cbioportal
7	BCOR	Ssm	5	24	20.8%	cbioportal
10	PIK3CG	Ssm	4	24	16.7%	cbioportal
11	ZFHX3	Ssm	4	24	16.7%	cbioportal
8	FGFR2	Ssm	4	24	16.7%	cbioportal
9	KMT2D	Ssm	4	24	16.7%	cbioportal
15	KMT2B	Ssm	3	23	13%	cbioportal
19	TP53	Ssm	3	24	12.5%	cbioportal
18	SPOP	Ssm	3	24	12.5%	cbioportal
12	CCND1	Ssm	3	24	12.5%	cbioportal
17	NOTCH1	Ssm	3	24	12.5%	cbioportal
16	MAP3K1	Ssm	3	24	12.5%	cbioportal
13	CTCF	Ssm	3	24	12.5%	cbioportal
14	JAK1	Ssm	3	24	12.5%	cbioportal
120	SMARCE1	Ssm	1	9	11.1%	cbioportal
68	ETAA1	Ssm	1	9	11.1%	cbioportal
108	REST	Ssm	1	9	11.1%	cbioportal
78	GAB1	Ssm	1	9	11.1%	cbioportal
124	SPRTN	Ssm	1	9	11.1%	cbioportal
39	SLX4	Ssm	2	23	8.7%	cbioportal
27	INPPL1	Ssm	2	23	8.7%	cbioportal
21	AKT1	Ssm	2	24	8.3%	cbioportal
28	IRS1	Ssm	2	24	8.3%	cbioportal
26	FGFR3	Ssm	2	24	8.3%	cbioportal
29	IRS2	Ssm	2	24	8.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-20

Endometrial Cancer (MSK, 2018) ucec_msk_2018MSK

197 cases with simple somatic mutation data · 197 cases total · 2026-01-13 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	107	197	54.3%	cbioportal
2	PIK3CA	Ssm	80	197	40.6%	cbioportal
3	ARID1A	Ssm	59	197	29.9%	cbioportal
4	PTEN	Ssm	57	197	28.9%	cbioportal
5	PIK3R1	Ssm	46	197	23.4%	cbioportal
6	KRAS	Ssm	42	197	21.3%	cbioportal
7	KMT2D	Ssm	32	197	16.2%	cbioportal
9	PPP2R1A	Ssm	30	197	15.2%	cbioportal
8	CTNNB1	Ssm	30	197	15.2%	cbioportal
10	FBXW7	Ssm	28	197	14.2%	cbioportal
18	ZFHX3	Ssm	16	128	12.5%	cbioportal
11	CTCF	Ssm	23	197	11.7%	cbioportal
12	BCOR	Ssm	20	197	10.2%	cbioportal
15	JAK1	Ssm	19	197	9.6%	cbioportal
14	FAT1	Ssm	19	197	9.6%	cbioportal
13	ATM	Ssm	19	197	9.6%	cbioportal
16	KMT2C	Ssm	17	197	8.6%	cbioportal
17	NOTCH3	Ssm	16	197	8.1%	cbioportal
19	MED12	Ssm	15	197	7.6%	cbioportal
20	MTOR	Ssm	15	197	7.6%	cbioportal
21	SMARCA4	Ssm	15	197	7.6%	cbioportal
23	SPEN	Ssm	14	197	7.1%	cbioportal
22	EP300	Ssm	14	197	7.1%	cbioportal
24	AKT1	Ssm	13	197	6.6%	cbioportal
25	ARID1B	Ssm	13	197	6.6%	cbioportal
28	TSC2	Ssm	13	197	6.6%	cbioportal
27	KDM5C	Ssm	13	197	6.6%	cbioportal
26	FGFR2	Ssm	13	197	6.6%	cbioportal
54	ANKRD11	Ssm	8	128	6.3%	cbioportal
30	SOX17	Ssm	12	197	6.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Endometrial Cancer (MSK, Cancer Discovery 2023) ucec_ancestry_cds_msk_2023MSK

1,882 cases with simple somatic mutation data · 1,882 cases total · 2026-01-13 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	941	1,882	50%	cbioportal
2	TP53	Ssm	850	1,882	45.2%	cbioportal
3	PIK3CA	Ssm	824	1,882	43.8%	cbioportal
4	ARID1A	Ssm	793	1,882	42.1%	cbioportal
5	PIK3R1	Ssm	484	1,882	25.7%	cbioportal
6	KRAS	Ssm	357	1,882	19%	cbioportal
7	CTCF	Ssm	305	1,882	16.2%	cbioportal
8	CTNNB1	Ssm	296	1,882	15.7%	cbioportal
9	FBXW7	Ssm	276	1,882	14.7%	cbioportal
10	ZFHX3	Ssm	237	1,824	13%	cbioportal
13	KMT2B	Ssm	208	1,661	12.5%	cbioportal
11	KMT2D	Ssm	231	1,882	12.3%	cbioportal
12	PPP2R1A	Ssm	226	1,882	12%	cbioportal
15	INPPL1	Ssm	171	1,661	10.3%	cbioportal
14	BCOR	Ssm	184	1,882	9.8%	cbioportal
16	JAK1	Ssm	171	1,882	9.1%	cbioportal
17	RNF43	Ssm	154	1,882	8.2%	cbioportal
18	FGFR2	Ssm	151	1,882	8%	cbioportal
19	ATM	Ssm	139	1,882	7.4%	cbioportal
20	NF1	Ssm	118	1,882	6.3%	cbioportal
21	NSD1	Ssm	103	1,882	5.5%	cbioportal
22	ARID1B	Ssm	102	1,882	5.4%	cbioportal
23	ARID5B	Ssm	96	1,882	5.1%	cbioportal
24	KMT2C	Ssm	96	1,882	5.1%	cbioportal
25	SOX17	Ssm	93	1,882	4.9%	cbioportal
26	CCND1	Ssm	92	1,882	4.9%	cbioportal
27	FAT1	Ssm	91	1,882	4.8%	cbioportal
28	POLE	Ssm	91	1,882	4.8%	cbioportal
29	MED12	Ssm	89	1,882	4.7%	cbioportal
30	RASA1	Ssm	88	1,882	4.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Endometrial Carcinoma cfDNA (MSK, Clin Cancer Res 2022) ucec_ccr_cfdna_msk_2022MSK

44 cases with simple somatic mutation data · 44 cases total · 2026-01-13 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	22	44	50%	cbioportal
2	PIK3CA	Ssm	21	44	47.7%	cbioportal
3	PTEN	Ssm	21	44	47.7%	cbioportal
4	ARID1A	Ssm	15	44	34.1%	cbioportal
5	FBXW7	Ssm	12	44	27.3%	cbioportal
6	KRAS	Ssm	11	44	25%	cbioportal
7	PIK3R1	Ssm	9	44	20.5%	cbioportal
10	KMT2B	Ssm	8	44	18.2%	cbioportal
8	CTCF	Ssm	8	44	18.2%	cbioportal
9	KMT2A	Ssm	8	44	18.2%	cbioportal
11	KMT2D	Ssm	7	44	15.9%	cbioportal
12	JAK1	Ssm	6	44	13.6%	cbioportal
18	RNF43	Ssm	5	44	11.4%	cbioportal
14	EP300	Ssm	5	44	11.4%	cbioportal
15	INPPL1	Ssm	5	44	11.4%	cbioportal
16	NFE2L2	Ssm	5	44	11.4%	cbioportal
17	POLD1	Ssm	5	44	11.4%	cbioportal
19	ZFHX3	Ssm	5	44	11.4%	cbioportal
13	BCOR	Ssm	5	44	11.4%	cbioportal
22	CREBBP	Ssm	4	44	9.1%	cbioportal
21	ATR	Ssm	4	44	9.1%	cbioportal
20	AR	Ssm	4	44	9.1%	cbioportal
28	RRAS2	Ssm	4	44	9.1%	cbioportal
27	PPP2R1A	Ssm	4	44	9.1%	cbioportal
26	PGR	Ssm	4	44	9.1%	cbioportal
25	PBRM1	Ssm	4	44	9.1%	cbioportal
24	NOTCH4	Ssm	4	44	9.1%	cbioportal
23	ERF	Ssm	4	44	9.1%	cbioportal
40	INSR	Ssm	3	44	6.8%	cbioportal
39	GLI1	Ssm	3	44	6.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Endometrial Carcinoma (CPTAC, Cell 2020) ucec_cptac_2020CPTAC

95 cases with simple somatic mutation data · 81 cases total · 2026-01-13 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	75	95	78.9%	cbioportal
2	PIK3CA	Ssm	47	95	49.5%	cbioportal
3	ARID1A	Ssm	43	95	45.3%	cbioportal
4	PIK3R1	Ssm	36	95	37.9%	cbioportal
5	KRAS	Ssm	31	95	32.6%	cbioportal
6	CTNNB1	Ssm	29	95	30.5%	cbioportal
7	CTCF	Ssm	27	95	28.4%	cbioportal
8	KMT2B	Ssm	23	95	24.2%	cbioportal
9	TP53	Ssm	21	95	22.1%	cbioportal
10	ZFHX3	Ssm	21	95	22.1%	cbioportal
12	INPPL1	Ssm	19	95	20%	cbioportal
11	DOCK3	Ssm	19	95	20%	cbioportal
13	ZFHX4	Ssm	19	95	20%	cbioportal
14	FBXW7	Ssm	18	95	18.9%	cbioportal
15	MUC16	Ssm	18	95	18.9%	cbioportal
16	HERC2	Ssm	17	95	17.9%	cbioportal
17	KMT2D	Ssm	17	95	17.9%	cbioportal
18	JAK1	Ssm	16	95	16.8%	cbioportal
19	LRTM3	Ssm	16	95	16.8%	cbioportal
20	NSD1	Ssm	16	95	16.8%	cbioportal
21	PCLO	Ssm	16	95	16.8%	cbioportal
22	RBM27	Ssm	16	95	16.8%	cbioportal
23	RPL22	Ssm	16	95	16.8%	cbioportal
24	SCAF4	Ssm	16	95	16.8%	cbioportal
25	SYNE1	Ssm	16	95	16.8%	cbioportal
26	AHNAK	Ssm	15	95	15.8%	cbioportal
27	DNAH17	Ssm	15	95	15.8%	cbioportal
28	HUWE1	Ssm	15	95	15.8%	cbioportal
29	LMAN1	Ssm	15	95	15.8%	cbioportal
30	OBSCN	Ssm	15	95	15.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Endometrial Carcinoma MSI (MSK, Clin Cancer Res 2022) ucec_ccr_msk_2022MSK

181 cases with simple somatic mutation data · 181 cases total · 2026-01-13 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ARID1A	Ssm	160	181	88.4%	cbioportal
2	PTEN	Ssm	156	181	86.2%	cbioportal
3	KMT2D	Ssm	122	181	67.4%	cbioportal
5	KMT2B	Ssm	106	169	62.7%	cbioportal
4	PIK3CA	Ssm	112	181	61.9%	cbioportal
6	CTCF	Ssm	101	181	55.8%	cbioportal
8	INPPL1	Ssm	86	169	50.9%	cbioportal
7	ZFHX3	Ssm	90	180	50%	cbioportal
9	JAK1	Ssm	76	181	42%	cbioportal
10	RNF43	Ssm	76	181	42%	cbioportal
11	ARID1B	Ssm	67	181	37%	cbioportal
12	FAT1	Ssm	62	181	34.3%	cbioportal
13	PIK3R1	Ssm	62	181	34.3%	cbioportal
14	CIC	Ssm	54	181	29.8%	cbioportal
15	NOTCH3	Ssm	53	181	29.3%	cbioportal
16	ANKRD11	Ssm	51	180	28.3%	cbioportal
17	BCOR	Ssm	51	181	28.2%	cbioportal
18	KMT2C	Ssm	51	181	28.2%	cbioportal
19	CREBBP	Ssm	50	181	27.6%	cbioportal
20	MSH6	Ssm	48	181	26.5%	cbioportal
21	SMARCA4	Ssm	48	181	26.5%	cbioportal
23	POLD1	Ssm	47	180	26.1%	cbioportal
22	KRAS	Ssm	47	181	26%	cbioportal
25	PTPRS	Ssm	46	181	25.4%	cbioportal
26	SPEN	Ssm	46	181	25.4%	cbioportal
24	FGFR2	Ssm	46	181	25.4%	cbioportal
27	IRS2	Ssm	45	181	24.9%	cbioportal
28	FBXW7	Ssm	44	181	24.3%	cbioportal
30	CCND1	Ssm	43	181	23.8%	cbioportal
29	ATM	Ssm	43	181	23.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Endometrial Carcinoma (MSK, Molecular Oncology 2024) ucs_msk_2024MSK

69 cases with simple somatic mutation data · 69 cases total · 2026-03-09 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ERBB2	Ssm	69	69	100%	cbioportal
2	ARID1A	Ssm	47	69	68.1%	cbioportal
3	PIK3CA	Ssm	41	69	59.4%	cbioportal
4	PTEN	Ssm	40	69	58%	cbioportal
6	TP53	Ssm	35	69	50.7%	cbioportal
5	KMT2D	Ssm	35	69	50.7%	cbioportal
7	FBXW7	Ssm	27	69	39.1%	cbioportal
15	KMT2B	Ssm	20	57	35.1%	cbioportal
8	FAT1	Ssm	24	69	34.8%	cbioportal
9	NOTCH3	Ssm	24	69	34.8%	cbioportal
10	ZFHX3	Ssm	23	68	33.8%	cbioportal
104	ARHGAP35	Ssm	8	25	32%	cbioportal
11	NOTCH1	Ssm	22	69	31.9%	cbioportal
12	ERBB3	Ssm	21	69	30.4%	cbioportal
13	KMT2C	Ssm	21	69	30.4%	cbioportal
16	POLE	Ssm	20	69	29%	cbioportal
14	ATM	Ssm	20	69	29%	cbioportal
17	ARID1B	Ssm	19	69	27.5%	cbioportal
18	CREBBP	Ssm	19	69	27.5%	cbioportal
19	SMARCA4	Ssm	19	69	27.5%	cbioportal
20	ANKRD11	Ssm	18	68	26.5%	cbioportal
34	INPPL1	Ssm	15	57	26.3%	cbioportal
33	DROSHA	Ssm	15	57	26.3%	cbioportal
24	PIK3R1	Ssm	18	69	26.1%	cbioportal
23	NSD1	Ssm	18	69	26.1%	cbioportal
22	MSH2	Ssm	18	69	26.1%	cbioportal
21	BCOR	Ssm	18	69	26.1%	cbioportal
25	CTCF	Ssm	17	69	24.6%	cbioportal
27	SPEN	Ssm	17	69	24.6%	cbioportal
26	PPP2R1A	Ssm	17	69	24.6%	cbioportal

Data updated 22 days agoSource updated 2026-03-09

Endometrial Carcinoma (TCGA GDC, 2025) ucec_tcga_gdcTCGA GDC

511 cases with simple somatic mutation data · 547 cases total · 2026-01-14 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	334	511	65.4%	cbioportal
2	PIK3CA	Ssm	252	511	49.3%	cbioportal
3	ARID1A	Ssm	235	511	46%	cbioportal
4	TTN	Ssm	194	511	38%	cbioportal
5	TP53	Ssm	190	511	37.2%	cbioportal
6	PIK3R1	Ssm	166	511	32.5%	cbioportal
7	KMT2D	Ssm	140	511	27.4%	cbioportal
8	CTNNB1	Ssm	130	511	25.4%	cbioportal
9	MUC16	Ssm	127	511	24.9%	cbioportal
10	CTCF	Ssm	126	511	24.7%	cbioportal
11	CSMD3	Ssm	121	511	23.7%	cbioportal
12	ZFHX3	Ssm	118	511	23.1%	cbioportal
13	RYR2	Ssm	116	511	22.7%	cbioportal
14	KMT2B	Ssm	114	511	22.3%	cbioportal
15	OBSCN	Ssm	111	511	21.7%	cbioportal
16	DST	Ssm	109	511	21.3%	cbioportal
18	ZFHX4	Ssm	105	511	20.5%	cbioportal
17	MUC5B	Ssm	105	511	20.5%	cbioportal
20	FAT1	Ssm	104	511	20.4%	cbioportal
19	CHD4	Ssm	104	511	20.4%	cbioportal
21	SYNE1	Ssm	103	511	20.2%	cbioportal
23	MACF1	Ssm	102	511	20%	cbioportal
22	DNAH7	Ssm	102	511	20%	cbioportal
25	TAF1	Ssm	101	511	19.8%	cbioportal
24	FAT4	Ssm	101	511	19.8%	cbioportal
26	ARHGAP35	Ssm	98	511	19.2%	cbioportal
27	PCLO	Ssm	98	511	19.2%	cbioportal
29	DMD	Ssm	96	511	18.8%	cbioportal
28	ATM	Ssm	96	511	18.8%	cbioportal
30	DNAH5	Ssm	96	511	18.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Esophageal Adenocarcinoma (DFCI, Nat Genet 2013) esca_broadDFCI

151 cases with simple somatic mutation data · 151 cases total · 2026-01-07 · mapped to Esophageal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	106	151	70.2%	cbioportal
2	TTN	Ssm	81	151	53.6%	cbioportal
3	MUC16	Ssm	41	151	27.2%	cbioportal
4	SYNE1	Ssm	36	151	23.8%	cbioportal
5	LRP1B	Ssm	34	151	22.5%	cbioportal
6	FLG	Ssm	33	151	21.9%	cbioportal
7	SPTA1	Ssm	32	151	21.2%	cbioportal
8	PCLO	Ssm	31	151	20.5%	cbioportal
9	CSMD3	Ssm	26	151	17.2%	cbioportal
11	PCDH15	Ssm	24	151	15.9%	cbioportal
10	FAT3	Ssm	24	151	15.9%	cbioportal
12	CNTN6	Ssm	22	151	14.6%	cbioportal
13	CSMD1	Ssm	22	151	14.6%	cbioportal
14	PTPRD	Ssm	22	151	14.6%	cbioportal
18	USH2A	Ssm	21	151	13.9%	cbioportal
16	HMCN1	Ssm	21	151	13.9%	cbioportal
17	LAMA1	Ssm	21	151	13.9%	cbioportal
15	FAT4	Ssm	21	151	13.9%	cbioportal
19	APOB	Ssm	20	151	13.2%	cbioportal
20	CDKN2A	Ssm	20	151	13.2%	cbioportal
21	ZNF804B	Ssm	19	151	12.6%	cbioportal
23	PCDH17	Ssm	18	151	11.9%	cbioportal
25	RYR2	Ssm	18	151	11.9%	cbioportal
26	ZFHX4	Ssm	18	151	11.9%	cbioportal
24	RIMS2	Ssm	18	151	11.9%	cbioportal
22	DOCK2	Ssm	18	151	11.9%	cbioportal
27	CUBN	Ssm	16	151	10.6%	cbioportal
28	RYR3	Ssm	16	151	10.6%	cbioportal
29	CNTNAP5	Ssm	15	151	9.9%	cbioportal
30	ERBB4	Ssm	15	151	9.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Esophageal Adenocarcinoma (TCGA GDC, 2025) esca_tcga_gdcTCGA GDC

185 cases with simple somatic mutation data · 186 cases total · 2026-01-13 · mapped to Esophageal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	156	185	84.3%	cbioportal
2	TTN	Ssm	75	185	40.5%	cbioportal
3	MUC16	Ssm	40	185	21.6%	cbioportal
4	CSMD3	Ssm	35	185	18.9%	cbioportal
5	SYNE1	Ssm	33	185	17.8%	cbioportal
6	FLG	Ssm	27	185	14.6%	cbioportal
7	LRP1B	Ssm	27	185	14.6%	cbioportal
8	DNAH5	Ssm	26	185	14.1%	cbioportal
9	PCLO	Ssm	25	185	13.5%	cbioportal
10	HMCN1	Ssm	24	185	13%	cbioportal
12	RYR2	Ssm	22	185	11.9%	cbioportal
11	KMT2D	Ssm	22	185	11.9%	cbioportal
13	CSMD1	Ssm	20	185	10.8%	cbioportal
15	ZNF804B	Ssm	19	185	10.3%	cbioportal
14	FAT3	Ssm	19	185	10.3%	cbioportal
18	UNC13C	Ssm	18	185	9.7%	cbioportal
16	SACS	Ssm	18	185	9.7%	cbioportal
17	SPTA1	Ssm	18	185	9.7%	cbioportal
19	NFE2L2	Ssm	17	185	9.2%	cbioportal
20	NOTCH1	Ssm	17	185	9.2%	cbioportal
21	RYR3	Ssm	17	185	9.2%	cbioportal
27	PIK3CA	Ssm	16	185	8.6%	cbioportal
22	COL11A1	Ssm	16	185	8.6%	cbioportal
23	DYNC2H1	Ssm	16	185	8.6%	cbioportal
24	LAMA1	Ssm	16	185	8.6%	cbioportal
25	OBSCN	Ssm	16	185	8.6%	cbioportal
26	PCDH15	Ssm	16	185	8.6%	cbioportal
28	ADGRV1	Ssm	15	185	8.1%	cbioportal
29	ARID1A	Ssm	15	185	8.1%	cbioportal
30	CNTNAP5	Ssm	15	185	8.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Esophageal Adenocarcinoma (TCGA, PanCancer Atlas) esca_tcga_pan_can_atlas_2018TCGA

182 cases with simple somatic mutation data · 182 cases total · 2026-06-05 · mapped to Esophageal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	158	182	86.8%	cbioportal
2	TTN	Ssm	75	182	41.2%	cbioportal
3	MUC16	Ssm	43	182	23.6%	cbioportal
4	SYNE1	Ssm	37	182	20.3%	cbioportal
5	CSMD3	Ssm	35	182	19.2%	cbioportal
6	FLG	Ssm	32	182	17.6%	cbioportal
8	LRP1B	Ssm	31	182	17%	cbioportal
7	HMCN1	Ssm	31	182	17%	cbioportal
9	DNAH5	Ssm	30	182	16.5%	cbioportal
10	PCLO	Ssm	27	182	14.8%	cbioportal
11	RYR2	Ssm	23	182	12.6%	cbioportal
13	KMT2D	Ssm	22	182	12.1%	cbioportal
12	EYS	Ssm	22	182	12.1%	cbioportal
14	CSMD1	Ssm	21	182	11.5%	cbioportal
16	PKHD1L1	Ssm	20	182	11%	cbioportal
18	UNC13C	Ssm	20	182	11%	cbioportal
17	SPTA1	Ssm	20	182	11%	cbioportal
15	FAT3	Ssm	20	182	11%	cbioportal
20	OBSCN	Ssm	19	182	10.4%	cbioportal
19	DYNC2H1	Ssm	19	182	10.4%	cbioportal
21	PCDH15	Ssm	19	182	10.4%	cbioportal
22	ZNF804B	Ssm	19	182	10.4%	cbioportal
25	USH2A	Ssm	18	182	9.9%	cbioportal
23	NFE2L2	Ssm	18	182	9.9%	cbioportal
24	SACS	Ssm	18	182	9.9%	cbioportal
26	CNTNAP5	Ssm	17	182	9.3%	cbioportal
29	MUC4	Ssm	17	182	9.3%	cbioportal
30	PIK3CA	Ssm	17	182	9.3%	cbioportal
31	RYR3	Ssm	17	182	9.3%	cbioportal
27	LAMA1	Ssm	17	182	9.3%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Esophageal Cancer-TRAP Project (MSK, Lancet Oncol 2020) egc_trap_msk_2020MSK

63 cases with simple somatic mutation data · 68 cases total · 2026-01-07 · mapped to Gastroesophageal Junction Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	45	63	71.4%	cbioportal
3	TTN	Ssm	11	31	35.5%	cbioportal
6	PCLO	Ssm	7	31	22.6%	cbioportal
5	LRP1B	Ssm	7	31	22.6%	cbioportal
7	SYNE1	Ssm	7	31	22.6%	cbioportal
11	OBSCN	Ssm	6	31	19.4%	cbioportal
10	CSMD2	Ssm	6	31	19.4%	cbioportal
2	CDKN2A	Ssm	11	63	17.5%	cbioportal
18	MUC16	Ssm	5	31	16.1%	cbioportal
19	MXRA5	Ssm	5	31	16.1%	cbioportal
23	UNC13C	Ssm	5	31	16.1%	cbioportal
14	CSMD3	Ssm	5	31	16.1%	cbioportal
13	COL4A4	Ssm	5	31	16.1%	cbioportal
21	TENM4	Ssm	5	31	16.1%	cbioportal
15	CUBN	Ssm	5	31	16.1%	cbioportal
16	DNAH8	Ssm	5	31	16.1%	cbioportal
4	PTPRT	Ssm	10	63	15.9%	cbioportal
46	PIEZO1	Ssm	4	31	12.9%	cbioportal
35	FAT4	Ssm	4	31	12.9%	cbioportal
51	RIMS1	Ssm	4	31	12.9%	cbioportal
37	GLI3	Ssm	4	31	12.9%	cbioportal
47	PLEC	Ssm	4	31	12.9%	cbioportal
36	FBN2	Ssm	4	31	12.9%	cbioportal
24	ABCA13	Ssm	4	31	12.9%	cbioportal
25	ANKS1B	Ssm	4	31	12.9%	cbioportal
45	PABPC3	Ssm	4	31	12.9%	cbioportal
44	NRXN1	Ssm	4	31	12.9%	cbioportal
43	NRK	Ssm	4	31	12.9%	cbioportal
41	MAGEC1	Ssm	4	31	12.9%	cbioportal
55	TTC6	Ssm	4	31	12.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Esophageal Carcinoma TCGA-ESCATCGA

185 cases with simple somatic mutation data · 185 cases total · Data Release 46.0 · mapped to Esophageal Carcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	167	185	90.3%	gdc
2	MYC	Ssm	138	185	74.6%	gdc
4	TG	Ssm	138	185	74.6%	gdc
3	POU5F1B	Ssm	138	185	74.6%	gdc
5	KCNQ3	Ssm	135	185	73%	gdc
7	ADCY8	Ssm	134	185	72.4%	gdc
9	LRATD2	Ssm	134	185	72.4%	gdc
6	GSDMC	Ssm	134	185	72.4%	gdc
8	CDKN2A	Ssm	134	185	72.4%	gdc
10	EFR3A	Ssm	133	185	71.9%	gdc
11	CDKN2B	Ssm	133	185	71.9%	gdc
19	LRRC6	Ssm	132	185	71.4%	gdc
22	OC90	Ssm	132	185	71.4%	gdc
21	SLA	Ssm	132	185	71.4%	gdc
20	AC100868.1	Ssm	132	185	71.4%	gdc
12	NDRG1	Ssm	132	185	71.4%	gdc
13	KHDRBS3	Ssm	132	185	71.4%	gdc
14	TRIB1	Ssm	132	185	71.4%	gdc
15	ASAP1	Ssm	132	185	71.4%	gdc
16	HHLA1	Ssm	132	185	71.4%	gdc
17	CCN4	Ssm	132	185	71.4%	gdc
18	ZFAT	Ssm	132	185	71.4%	gdc
26	WASHC5	Ssm	131	185	70.8%	gdc
27	TMEM71	Ssm	131	185	70.8%	gdc
23	COL22A1	Ssm	131	185	70.8%	gdc
24	PHF20L1	Ssm	131	185	70.8%	gdc
25	ZNF572	Ssm	131	185	70.8%	gdc
29	ST3GAL1	Ssm	131	185	70.8%	gdc
28	CYRIB	Ssm	131	185	70.8%	gdc
30	SAMD7	Ssm	130	185	70.3%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Esophageal Carcinoma (TCGA, Firehose Legacy) esca_tcgaTCGA

185 cases with simple somatic mutation data · 186 cases total · 2026-01-07 · mapped to Esophageal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	153	185	82.7%	cbioportal
2	TTN	Ssm	97	185	52.4%	cbioportal
3	MUC16	Ssm	51	185	27.6%	cbioportal
4	SYNE1	Ssm	44	185	23.8%	cbioportal
5	CSMD3	Ssm	40	185	21.6%	cbioportal
6	DNAH5	Ssm	35	185	18.9%	cbioportal
7	HMCN1	Ssm	34	185	18.4%	cbioportal
8	LRP1B	Ssm	33	185	17.8%	cbioportal
9	FLG	Ssm	32	185	17.3%	cbioportal
10	KMT2D	Ssm	32	185	17.3%	cbioportal
11	RYR2	Ssm	31	185	16.8%	cbioportal
14	USH2A	Ssm	29	185	15.7%	cbioportal
13	PCLO	Ssm	29	185	15.7%	cbioportal
12	MUC4	Ssm	29	185	15.7%	cbioportal
16	OBSCN	Ssm	27	185	14.6%	cbioportal
15	CSMD1	Ssm	27	185	14.6%	cbioportal
17	PKHD1L1	Ssm	26	185	14.1%	cbioportal
20	SPTA1	Ssm	25	185	13.5%	cbioportal
18	FAT3	Ssm	25	185	13.5%	cbioportal
19	FAT4	Ssm	25	185	13.5%	cbioportal
21	MUC12	Ssm	24	185	13%	cbioportal
23	RYR3	Ssm	23	185	12.4%	cbioportal
24	XIRP2	Ssm	23	185	12.4%	cbioportal
22	DYNC2H1	Ssm	23	185	12.4%	cbioportal
25	ADGRV1	Ssm	22	185	11.9%	cbioportal
26	DST	Ssm	22	185	11.9%	cbioportal
28	CDKN2A	Ssm	21	185	11.4%	cbioportal
29	EYS	Ssm	21	185	11.4%	cbioportal
30	NEB	Ssm	21	185	11.4%	cbioportal
27	ATM	Ssm	21	185	11.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Esophageal Carcinoma (TCGA, Nature 2017) stes_tcga_pubTCGA

518 cases with simple somatic mutation data · 559 cases total · 2026-01-13 · mapped to Gastroesophageal Junction Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	309	518	59.7%	cbioportal
2	TTN	Ssm	276	518	53.3%	cbioportal
3	MUC16	Ssm	171	518	33%	cbioportal
4	SYNE1	Ssm	134	518	25.9%	cbioportal
5	LRP1B	Ssm	125	518	24.1%	cbioportal
6	CSMD3	Ssm	121	518	23.4%	cbioportal
7	FLG	Ssm	108	518	20.8%	cbioportal
8	ARID1A	Ssm	106	518	20.5%	cbioportal
9	CSMD1	Ssm	104	518	20.1%	cbioportal
10	OBSCN	Ssm	104	518	20.1%	cbioportal
11	PCLO	Ssm	103	518	19.9%	cbioportal
13	FAT4	Ssm	99	518	19.1%	cbioportal
12	DNAH5	Ssm	99	518	19.1%	cbioportal
14	RYR2	Ssm	98	518	18.9%	cbioportal
15	HMCN1	Ssm	92	518	17.8%	cbioportal
16	KMT2D	Ssm	91	518	17.6%	cbioportal
17	FAT3	Ssm	88	518	17%	cbioportal
18	SPTA1	Ssm	86	518	16.6%	cbioportal
19	ZFHX4	Ssm	80	518	15.4%	cbioportal
20	USH2A	Ssm	79	518	15.3%	cbioportal
21	PIK3CA	Ssm	77	518	14.9%	cbioportal
22	PCDH15	Ssm	76	518	14.7%	cbioportal
23	RYR3	Ssm	74	518	14.3%	cbioportal
25	SACS	Ssm	72	518	13.9%	cbioportal
24	LRRK2	Ssm	72	518	13.9%	cbioportal
26	DNAH11	Ssm	71	518	13.7%	cbioportal
27	DNAH7	Ssm	70	518	13.5%	cbioportal
30	MUC4	Ssm	67	518	12.9%	cbioportal
29	DMD	Ssm	67	518	12.9%	cbioportal
28	AHNAK2	Ssm	67	518	12.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Esophageal Squamous Cell Carcinoma (ICGC, Nature 2014) escc_icgcICGC

88 cases with simple somatic mutation data · 88 cases total · 2026-01-07 · mapped to Esophageal Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	73	88	83%	cbioportal
2	TTN	Ssm	28	88	31.8%	cbioportal
4	PCLO	Ssm	12	88	13.6%	cbioportal
3	MUC16	Ssm	12	88	13.6%	cbioportal
5	ZFHX4	Ssm	11	88	12.5%	cbioportal
6	LRP1B	Ssm	10	88	11.4%	cbioportal
7	DMD	Ssm	8	88	9.1%	cbioportal
8	NOTCH1	Ssm	8	88	9.1%	cbioportal
10	DNAH6	Ssm	7	88	8%	cbioportal
12	RB1	Ssm	7	88	8%	cbioportal
13	SYNE1	Ssm	7	88	8%	cbioportal
11	PKHD1L1	Ssm	7	88	8%	cbioportal
9	CSMD3	Ssm	7	88	8%	cbioportal
20	FAT4	Ssm	6	88	6.8%	cbioportal
15	CACNA1E	Ssm	6	88	6.8%	cbioportal
16	DNAH14	Ssm	6	88	6.8%	cbioportal
17	DNAH17	Ssm	6	88	6.8%	cbioportal
18	FAM135B	Ssm	6	88	6.8%	cbioportal
19	FAT3	Ssm	6	88	6.8%	cbioportal
24	USH2A	Ssm	6	88	6.8%	cbioportal
23	RYR2	Ssm	6	88	6.8%	cbioportal
22	RP1	Ssm	6	88	6.8%	cbioportal
21	MACF1	Ssm	6	88	6.8%	cbioportal
14	ADGRV1	Ssm	6	88	6.8%	cbioportal
26	ADGB	Ssm	5	88	5.7%	cbioportal
30	CREBBP	Ssm	5	88	5.7%	cbioportal
29	COL6A3	Ssm	5	88	5.7%	cbioportal
28	COL24A1	Ssm	5	88	5.7%	cbioportal
27	CACNA1A	Ssm	5	88	5.7%	cbioportal
25	ABCA13	Ssm	5	88	5.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Esophageal Squamous Cell Carcinoma (UCLA, Nat Genet 2014) escc_ucla_2014UCLA

139 cases with simple somatic mutation data · 139 cases total · 2026-01-07 · mapped to Esophageal Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	83	139	59.7%	cbioportal
2	TTN	Ssm	49	139	35.3%	cbioportal
180	ZNF676	Ssm	4	20	20%	cbioportal
152	MYH2	Ssm	4	20	20%	cbioportal
3	KMT2D	Ssm	25	139	18%	cbioportal
4	MUC16	Ssm	20	139	14.4%	cbioportal
5	SYNE1	Ssm	18	139	12.9%	cbioportal
6	FAT1	Ssm	16	139	11.5%	cbioportal
9	LRP1B	Ssm	15	139	10.8%	cbioportal
7	ADGRV1	Ssm	15	139	10.8%	cbioportal
8	CSMD3	Ssm	15	139	10.8%	cbioportal
10	PCLO	Ssm	14	139	10.1%	cbioportal
11	XIRP2	Ssm	13	139	9.4%	cbioportal
13	FAT2	Ssm	12	139	8.6%	cbioportal
12	ABCA13	Ssm	12	139	8.6%	cbioportal
14	HMCN1	Ssm	12	139	8.6%	cbioportal
15	MUC4	Ssm	12	139	8.6%	cbioportal
26	RB1	Ssm	11	139	7.9%	cbioportal
22	MUC17	Ssm	11	139	7.9%	cbioportal
21	LRP2	Ssm	11	139	7.9%	cbioportal
19	FSIP2	Ssm	11	139	7.9%	cbioportal
23	MUC2	Ssm	11	139	7.9%	cbioportal
24	NOTCH1	Ssm	11	139	7.9%	cbioportal
25	PIK3CA	Ssm	11	139	7.9%	cbioportal
20	KMT2C	Ssm	11	139	7.9%	cbioportal
16	DMD	Ssm	11	139	7.9%	cbioportal
17	DNAH5	Ssm	11	139	7.9%	cbioportal
18	EP300	Ssm	11	139	7.9%	cbioportal
32	ZNF750	Ssm	10	139	7.2%	cbioportal
27	DNAH6	Ssm	10	139	7.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Esophagogastric Cancer (MSK, Clin Cancer Res 2022) egc_msk_tp53_ccr_2022MSK

237 cases with simple somatic mutation data · 237 cases total · 2026-01-07 · mapped to Gastroesophageal Junction Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	185	237	78.1%	cbioportal
3	CDKN2A	Ssm	39	237	16.5%	cbioportal
2	ARID1A	Ssm	39	237	16.5%	cbioportal
5	PREX2	Ssm	24	198	12.1%	cbioportal
4	SMARCA4	Ssm	25	237	10.5%	cbioportal
6	PIK3CA	Ssm	22	237	9.3%	cbioportal
9	SMAD4	Ssm	21	237	8.9%	cbioportal
8	PTPRD	Ssm	21	237	8.9%	cbioportal
7	ERBB4	Ssm	21	237	8.9%	cbioportal
10	KMT2D	Ssm	20	237	8.4%	cbioportal
11	APC	Ssm	19	237	8%	cbioportal
14	ZFHX3	Ssm	17	228	7.5%	cbioportal
12	KRAS	Ssm	17	237	7.2%	cbioportal
13	PTPRT	Ssm	17	237	7.2%	cbioportal
15	EPHA5	Ssm	16	237	6.8%	cbioportal
16	BRCA2	Ssm	15	237	6.3%	cbioportal
22	KMT2B	Ssm	12	198	6.1%	cbioportal
18	KMT2A	Ssm	13	237	5.5%	cbioportal
17	ARID2	Ssm	13	237	5.5%	cbioportal
21	ERBB2	Ssm	12	237	5.1%	cbioportal
19	AR	Ssm	12	237	5.1%	cbioportal
20	CREBBP	Ssm	12	237	5.1%	cbioportal
23	PTPRS	Ssm	12	237	5.1%	cbioportal
30	NTRK3	Ssm	11	237	4.6%	cbioportal
24	CIC	Ssm	11	237	4.6%	cbioportal
25	ERBB3	Ssm	11	237	4.6%	cbioportal
26	FLT4	Ssm	11	237	4.6%	cbioportal
27	IRS2	Ssm	11	237	4.6%	cbioportal
28	NF1	Ssm	11	237	4.6%	cbioportal
29	NOTCH1	Ssm	11	237	4.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Esophagogastric Cancer (MSK, Clin Cancer Res 2023) egc_trap_ccr_msk_2023MSK

64 cases with simple somatic mutation data · 64 cases total · 2026-01-07 · mapped to Gastroesophageal Junction Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	44	64	68.8%	cbioportal
2	TTN	Ssm	27	64	42.2%	cbioportal
3	PCLO	Ssm	17	64	26.6%	cbioportal
4	LRP1B	Ssm	14	64	21.9%	cbioportal
5	MUC16	Ssm	14	64	21.9%	cbioportal
6	SYNE1	Ssm	14	64	21.9%	cbioportal
7	CDKN2A	Ssm	12	64	18.8%	cbioportal
11	OBSCN	Ssm	11	64	17.2%	cbioportal
8	COL4A4	Ssm	11	64	17.2%	cbioportal
10	CUBN	Ssm	11	64	17.2%	cbioportal
9	CSMD2	Ssm	11	64	17.2%	cbioportal
12	CNTNAP4	Ssm	10	64	15.6%	cbioportal
13	DNAH5	Ssm	10	64	15.6%	cbioportal
14	DNAH8	Ssm	10	64	15.6%	cbioportal
16	TENM4	Ssm	10	64	15.6%	cbioportal
15	MYO18B	Ssm	10	64	15.6%	cbioportal
18	APOB	Ssm	9	64	14.1%	cbioportal
24	RYR3	Ssm	9	64	14.1%	cbioportal
23	RIMS2	Ssm	9	64	14.1%	cbioportal
22	MYT1L	Ssm	9	64	14.1%	cbioportal
21	MYH6	Ssm	9	64	14.1%	cbioportal
20	FLG	Ssm	9	64	14.1%	cbioportal
19	CSMD3	Ssm	9	64	14.1%	cbioportal
17	ABCA13	Ssm	9	64	14.1%	cbioportal
27	FAT4	Ssm	8	64	12.5%	cbioportal
25	COL11A1	Ssm	8	64	12.5%	cbioportal
26	EPHA3	Ssm	8	64	12.5%	cbioportal
30	SDK1	Ssm	8	64	12.5%	cbioportal
28	HMCN1	Ssm	8	64	12.5%	cbioportal
29	PTPRT	Ssm	8	64	12.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Evolution and co-occurrence of PI3K pathway gene mutations in endometrial carcinoma molecular subtypes at the single-cell level ucec_msk_dacruzpaula_2025

11 cases with simple somatic mutation data · 11 cases total · 2026-01-20 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved25 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	10	11	90.9%	cbioportal
2	PIK3R1	Ssm	9	11	81.8%	cbioportal
3	PIK3CA	Ssm	7	11	63.6%	cbioportal
4	CTCF	Ssm	5	11	45.5%	cbioportal
5	FGFR2	Ssm	4	11	36.4%	cbioportal
8	TP53	Ssm	3	11	27.3%	cbioportal
6	ARID1A	Ssm	3	11	27.3%	cbioportal
7	KRAS	Ssm	3	11	27.3%	cbioportal
11	EGFR	Ssm	2	11	18.2%	cbioportal
12	ERBB4	Ssm	2	11	18.2%	cbioportal
13	FBXW7	Ssm	2	11	18.2%	cbioportal
14	PDGFRA	Ssm	2	11	18.2%	cbioportal
9	ATM	Ssm	2	11	18.2%	cbioportal
10	CTNNB1	Ssm	2	11	18.2%	cbioportal
21	NOTCH1	Ssm	1	11	9.1%	cbioportal
25	VHL	Ssm	1	11	9.1%	cbioportal
24	SMARCB1	Ssm	1	11	9.1%	cbioportal
23	SMAD4	Ssm	1	11	9.1%	cbioportal
22	RB1	Ssm	1	11	9.1%	cbioportal
20	MTOR	Ssm	1	11	9.1%	cbioportal
19	MET	Ssm	1	11	9.1%	cbioportal
18	HRAS	Ssm	1	11	9.1%	cbioportal
17	HNF1A	Ssm	1	11	9.1%	cbioportal
16	GNAQ	Ssm	1	11	9.1%	cbioportal
15	BRAF	Ssm	1	11	9.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-20

Ewing Sarcoma (Institut Curie, Cancer Discov 2014) es_iocurie_2014Institut Curie

112 cases with simple somatic mutation data · 115 cases total · 2026-01-07 · mapped to Ewing Sarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	STAG2	Ssm	18	112	16.1%	cbioportal
2	TP53	Ssm	8	112	7.1%	cbioportal
4	TTN	Ssm	5	112	4.5%	cbioportal
3	CSMD1	Ssm	5	112	4.5%	cbioportal
7	RYR2	Ssm	3	112	2.7%	cbioportal
5	EZH2	Ssm	3	112	2.7%	cbioportal
6	MACF1	Ssm	3	112	2.7%	cbioportal
45	NUP155	Ssm	2	112	1.8%	cbioportal
56	STRN4	Ssm	2	112	1.8%	cbioportal
55	SETD2	Ssm	2	112	1.8%	cbioportal
54	QRICH2	Ssm	2	112	1.8%	cbioportal
53	PRUNE2	Ssm	2	112	1.8%	cbioportal
52	PRDM9	Ssm	2	112	1.8%	cbioportal
51	PKHD1L1	Ssm	2	112	1.8%	cbioportal
50	PHIP	Ssm	2	112	1.8%	cbioportal
49	PCDHB10	Ssm	2	112	1.8%	cbioportal
48	OTOF	Ssm	2	112	1.8%	cbioportal
47	OR4A16	Ssm	2	112	1.8%	cbioportal
46	OBSCN	Ssm	2	112	1.8%	cbioportal
44	NCAN	Ssm	2	112	1.8%	cbioportal
43	MYH15	Ssm	2	112	1.8%	cbioportal
42	MUC16	Ssm	2	112	1.8%	cbioportal
41	MROH5	Ssm	2	112	1.8%	cbioportal
8	ACSM5	Ssm	2	112	1.8%	cbioportal
9	ADAMTS6	Ssm	2	112	1.8%	cbioportal
40	LRIT1	Ssm	2	112	1.8%	cbioportal
10	ADHFE1	Ssm	2	112	1.8%	cbioportal
11	AGBL1	Ssm	2	112	1.8%	cbioportal
12	ANKHD1	Ssm	2	112	1.8%	cbioportal
13	BCOR	Ssm	2	112	1.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Ewing Sarcoma (MSK, Cancer Research 2024) es_dsrct_msk_2023MSK

290 cases with simple somatic mutation data · 290 cases total · 2026-02-14 · mapped to Ewing Sarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	21	290	7.2%	cbioportal
2	STAG2	Ssm	18	290	6.2%	cbioportal
3	TERT	Ssm	13	290	4.5%	cbioportal
4	ERF	Ssm	10	231	4.3%	cbioportal
5	ARID1A	Ssm	9	290	3.1%	cbioportal
6	EZH2	Ssm	9	290	3.1%	cbioportal
7	CREBBP	Ssm	7	290	2.4%	cbioportal
8	PTEN	Ssm	5	290	1.7%	cbioportal
13	SMARCA4	Ssm	4	290	1.4%	cbioportal
12	RASA1	Ssm	4	290	1.4%	cbioportal
9	BCOR	Ssm	4	290	1.4%	cbioportal
10	CDKN2A	Ssm	4	290	1.4%	cbioportal
11	FAT1	Ssm	4	290	1.4%	cbioportal
29	RAD21	Ssm	3	279	1.1%	cbioportal
30	ZFHX3	Ssm	3	279	1.1%	cbioportal
27	KRAS	Ssm	3	290	1%	cbioportal
28	NOTCH1	Ssm	3	290	1%	cbioportal
14	ARID1B	Ssm	3	290	1%	cbioportal
23	FGFR4	Ssm	3	290	1%	cbioportal
16	ASXL1	Ssm	3	290	1%	cbioportal
17	ATM	Ssm	3	290	1%	cbioportal
18	COP1	Ssm	3	290	1%	cbioportal
19	DICER1	Ssm	3	290	1%	cbioportal
20	EP300	Ssm	3	290	1%	cbioportal
21	ERG	Ssm	3	290	1%	cbioportal
22	FGFR1	Ssm	3	290	1%	cbioportal
15	ARID2	Ssm	3	290	1%	cbioportal
24	FLT1	Ssm	3	290	1%	cbioportal
25	IKZF1	Ssm	3	290	1%	cbioportal
26	KMT2D	Ssm	3	290	1%	cbioportal

Data updated 22 days agoSource updated 2026-02-14

Functional Genomic Landscape of Acute Myeloid Leukemia BEATAML1.0-COHORTBEATAML1.0

759 cases with simple somatic mutation data · 826 cases total · Data Release 46.0 · mapped to Acute Myeloid Leukemia CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	DNMT3A	Ssm	33	759	4.3%	gdc
2	NPM1	Ssm	32	759	4.2%	gdc
3	FLT3	Ssm	22	759	2.9%	gdc
4	NRAS	Ssm	20	759	2.6%	gdc
7	TET2	Ssm	19	759	2.5%	gdc
5	IDH1	Ssm	19	759	2.5%	gdc
6	TP53	Ssm	19	759	2.5%	gdc
8	RUNX1	Ssm	18	759	2.4%	gdc
9	WT1	Ssm	15	759	2%	gdc
10	CEBPA	Ssm	15	759	2%	gdc
11	SRSF2	Ssm	14	759	1.8%	gdc
12	IDH2	Ssm	12	759	1.6%	gdc
13	STAG2	Ssm	11	759	1.4%	gdc
16	TTN	Ssm	10	759	1.3%	gdc
15	GATA2	Ssm	10	759	1.3%	gdc
14	BCOR	Ssm	10	759	1.3%	gdc
17	PTPN11	Ssm	9	759	1.2%	gdc
18	EZH2	Ssm	8	759	1.1%	gdc
19	DNAH9	Ssm	8	759	1.1%	gdc
22	SF3B1	Ssm	7	759	0.9%	gdc
20	RAD21	Ssm	7	759	0.9%	gdc
21	ASXL1	Ssm	7	759	0.9%	gdc
25	SMC3	Ssm	6	759	0.8%	gdc
26	HYDIN	Ssm	6	759	0.8%	gdc
27	RYR1	Ssm	6	759	0.8%	gdc
28	PKD1L2	Ssm	6	759	0.8%	gdc
23	CSF3R	Ssm	6	759	0.8%	gdc
24	MUC16	Ssm	6	759	0.8%	gdc
29	GRIN2B	Ssm	5	759	0.7%	gdc
30	DTD2	Ssm	5	759	0.7%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Gallbladder Cancer (MSK, 2022) gbc_mskcc_2022MSK

244 cases with simple somatic mutation data · 244 cases total · 2026-04-07 · mapped to Gallbladder Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	154	244	63.1%	cbioportal
2	SMAD4	Ssm	52	244	21.3%	cbioportal
3	ARID1A	Ssm	50	244	20.5%	cbioportal
7	ELF3	Ssm	21	191	11%	cbioportal
4	CDKN2A	Ssm	26	244	10.7%	cbioportal
5	PIK3CA	Ssm	26	244	10.7%	cbioportal
6	STK11	Ssm	22	244	9%	cbioportal
8	ARID2	Ssm	20	244	8.2%	cbioportal
9	KMT2C	Ssm	20	244	8.2%	cbioportal
10	ERBB2	Ssm	19	244	7.8%	cbioportal
152	SMARCA2	Ssm	3	40	7.5%	cbioportal
11	KRAS	Ssm	18	244	7.4%	cbioportal
14	KMT2D	Ssm	16	244	6.6%	cbioportal
12	ATM	Ssm	16	244	6.6%	cbioportal
13	ERBB3	Ssm	16	244	6.6%	cbioportal
16	TERT	Ssm	15	244	6.1%	cbioportal
15	CTNNB1	Ssm	15	244	6.1%	cbioportal
17	BRCA2	Ssm	13	244	5.3%	cbioportal
30	SLX4	Ssm	9	191	4.7%	cbioportal
28	PREX2	Ssm	9	191	4.7%	cbioportal
18	RBM10	Ssm	11	244	4.5%	cbioportal
22	RB1	Ssm	10	244	4.1%	cbioportal
19	KMT2A	Ssm	10	244	4.1%	cbioportal
21	PBRM1	Ssm	10	244	4.1%	cbioportal
20	NF1	Ssm	10	244	4.1%	cbioportal
29	RASA1	Ssm	9	244	3.7%	cbioportal
26	IKZF1	Ssm	9	244	3.7%	cbioportal
24	AXIN1	Ssm	9	244	3.7%	cbioportal
25	FBXW7	Ssm	9	244	3.7%	cbioportal
27	KEAP1	Ssm	9	244	3.7%	cbioportal

Data updated 22 days agoSource updated 2026-04-07

Gallbladder Cancer (MSK, Cancer 2018) gbc_msk_2018MSK

103 cases with simple somatic mutation data · 103 cases total · 2026-01-07 · mapped to Gallbladder Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	60	103	58.3%	cbioportal
2	SMAD4	Ssm	27	103	26.2%	cbioportal
3	ARID1A	Ssm	26	103	25.2%	cbioportal
4	ATM	Ssm	16	103	15.5%	cbioportal
5	PIK3CA	Ssm	11	103	10.7%	cbioportal
6	KMT2D	Ssm	9	103	8.7%	cbioportal
7	TERT	Ssm	9	103	8.7%	cbioportal
8	KRAS	Ssm	8	103	7.8%	cbioportal
13	PBRM1	Ssm	7	103	6.8%	cbioportal
12	NF1	Ssm	7	103	6.8%	cbioportal
10	ARID2	Ssm	7	103	6.8%	cbioportal
9	ARID1B	Ssm	7	103	6.8%	cbioportal
11	CDKN2A	Ssm	7	103	6.8%	cbioportal
14	BRCA2	Ssm	6	103	5.8%	cbioportal
16	ERBB3	Ssm	6	103	5.8%	cbioportal
15	CTNNB1	Ssm	6	103	5.8%	cbioportal
24	PLCG2	Ssm	5	95	5.3%	cbioportal
21	MED12	Ssm	5	103	4.9%	cbioportal
20	KMT2C	Ssm	5	103	4.9%	cbioportal
19	KEAP1	Ssm	5	103	4.9%	cbioportal
18	BRAF	Ssm	5	103	4.9%	cbioportal
23	NOTCH3	Ssm	5	103	4.9%	cbioportal
26	SMARCA4	Ssm	5	103	4.9%	cbioportal
25	RB1	Ssm	5	103	4.9%	cbioportal
17	AR	Ssm	5	103	4.9%	cbioportal
22	NCOR1	Ssm	5	103	4.9%	cbioportal
41	TSC2	Ssm	4	103	3.9%	cbioportal
27	APC	Ssm	4	103	3.9%	cbioportal
39	SETD2	Ssm	4	103	3.9%	cbioportal
40	TGFBR1	Ssm	4	103	3.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Gallbladder Carcinoma (Shanghai, Nat Genet 2014) gbc_shanghai_2014Shanghai

32 cases with simple somatic mutation data · 32 cases total · 2026-01-07 · mapped to Gallbladder Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	8	32	25%	cbioportal
2	MUC16	Ssm	6	32	18.8%	cbioportal
3	TTN	Ssm	5	32	15.6%	cbioportal
4	CS	Ssm	4	32	12.5%	cbioportal
5	KMT2C	Ssm	4	32	12.5%	cbioportal
6	ZNF521	Ssm	4	32	12.5%	cbioportal
12	LILRA1	Ssm	3	32	9.4%	cbioportal
13	NPEPPS	Ssm	3	32	9.4%	cbioportal
7	CHD8	Ssm	3	32	9.4%	cbioportal
8	DNAH7	Ssm	3	32	9.4%	cbioportal
14	PPIG	Ssm	3	32	9.4%	cbioportal
16	ZNF814	Ssm	3	32	9.4%	cbioportal
15	ZNF804B	Ssm	3	32	9.4%	cbioportal
11	FCGBP	Ssm	3	32	9.4%	cbioportal
9	ERBB2	Ssm	3	32	9.4%	cbioportal
10	ERBB3	Ssm	3	32	9.4%	cbioportal
17	ABCA13	Ssm	2	32	6.3%	cbioportal
27	BAG3	Ssm	2	32	6.3%	cbioportal
26	ATRX	Ssm	2	32	6.3%	cbioportal
25	ATM	Ssm	2	32	6.3%	cbioportal
24	ARID2	Ssm	2	32	6.3%	cbioportal
23	ARID1A	Ssm	2	32	6.3%	cbioportal
22	ARHGEF7	Ssm	2	32	6.3%	cbioportal
21	AKAP11	Ssm	2	32	6.3%	cbioportal
20	AHNAK	Ssm	2	32	6.3%	cbioportal
19	ADAMTSL3	Ssm	2	32	6.3%	cbioportal
18	ABLIM3	Ssm	2	32	6.3%	cbioportal
118	ZNF638	Ssm	2	32	6.3%	cbioportal
119	ZSCAN5A	Ssm	2	32	6.3%	cbioportal
117	ZNF281	Ssm	2	32	6.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Gastric Adenocarcinoma (TMUCIH, PNAS 2015) egc_tmucih_2015TMUCIH

78 cases with simple somatic mutation data · 78 cases total · 2026-01-07 · mapped to Gastroesophageal Junction Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	36	78	46.2%	cbioportal
2	TTN	Ssm	34	78	43.6%	cbioportal
3	ARID1A	Ssm	17	78	21.8%	cbioportal
4	MUC16	Ssm	14	78	17.9%	cbioportal
8	ZFHX4	Ssm	13	78	16.7%	cbioportal
7	PCLO	Ssm	13	78	16.7%	cbioportal
6	CSMD3	Ssm	13	78	16.7%	cbioportal
5	COL11A1	Ssm	13	78	16.7%	cbioportal
9	LRP1B	Ssm	12	78	15.4%	cbioportal
10	SYNE1	Ssm	12	78	15.4%	cbioportal
12	HMCN1	Ssm	11	78	14.1%	cbioportal
11	CDH1	Ssm	11	78	14.1%	cbioportal
15	PIK3CA	Ssm	10	78	12.8%	cbioportal
14	FAT4	Ssm	10	78	12.8%	cbioportal
13	DNAH5	Ssm	10	78	12.8%	cbioportal
18	FAT3	Ssm	9	78	11.5%	cbioportal
19	FREM2	Ssm	9	78	11.5%	cbioportal
21	USH2A	Ssm	9	78	11.5%	cbioportal
20	PCDH9	Ssm	9	78	11.5%	cbioportal
16	APC	Ssm	9	78	11.5%	cbioportal
17	DNAH7	Ssm	9	78	11.5%	cbioportal
26	FSIP2	Ssm	8	78	10.3%	cbioportal
25	DYNC2H1	Ssm	8	78	10.3%	cbioportal
24	DMD	Ssm	8	78	10.3%	cbioportal
23	DCHS2	Ssm	8	78	10.3%	cbioportal
22	AKAP6	Ssm	8	78	10.3%	cbioportal
30	NALCN	Ssm	8	78	10.3%	cbioportal
29	MAGEC1	Ssm	8	78	10.3%	cbioportal
28	LRP2	Ssm	8	78	10.3%	cbioportal
27	LRBA	Ssm	8	78	10.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Gastric Cancer (OncoSG, 2018) stad_oncosg_2018OncoSG

147 cases with simple somatic mutation data · 147 cases total · 2026-01-13 · mapped to Gastric Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	70	147	47.6%	cbioportal
2	TTN	Ssm	59	147	40.1%	cbioportal
3	SYNE1	Ssm	36	147	24.5%	cbioportal
4	LRP1B	Ssm	32	147	21.8%	cbioportal
5	MUC16	Ssm	29	147	19.7%	cbioportal
6	DNAH5	Ssm	25	147	17%	cbioportal
7	CSMD1	Ssm	22	147	15%	cbioportal
8	NEB	Ssm	21	147	14.3%	cbioportal
9	FAT3	Ssm	20	147	13.6%	cbioportal
10	OBSCN	Ssm	20	147	13.6%	cbioportal
11	MUC19	Ssm	19	147	12.9%	cbioportal
14	USH2A	Ssm	18	147	12.2%	cbioportal
13	RYR2	Ssm	18	147	12.2%	cbioportal
12	CSMD3	Ssm	18	147	12.2%	cbioportal
15	XIRP2	Ssm	18	147	12.2%	cbioportal
16	ABCA13	Ssm	17	147	11.6%	cbioportal
17	ARID1A	Ssm	17	147	11.6%	cbioportal
22	SPTA1	Ssm	17	147	11.6%	cbioportal
21	SACS	Ssm	17	147	11.6%	cbioportal
20	PCLO	Ssm	17	147	11.6%	cbioportal
19	NBEA	Ssm	17	147	11.6%	cbioportal
18	EYS	Ssm	17	147	11.6%	cbioportal
23	PAPPA2	Ssm	16	147	10.9%	cbioportal
26	SYNE2	Ssm	16	147	10.9%	cbioportal
25	RYR1	Ssm	16	147	10.9%	cbioportal
24	RIMS2	Ssm	16	147	10.9%	cbioportal
29	FSIP2	Ssm	15	147	10.2%	cbioportal
36	WDFY4	Ssm	15	147	10.2%	cbioportal
27	ANK2	Ssm	15	147	10.2%	cbioportal
28	COL11A1	Ssm	15	147	10.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Glioblastoma (Columbia, Nat Med. 2019) gbm_columbia_2019Columbia

32 cases with simple somatic mutation data · 42 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	6	32	18.8%	cbioportal
3	RYR2	Ssm	4	32	12.5%	cbioportal
2	IDH1	Ssm	4	32	12.5%	cbioportal
9	TP53	Ssm	3	32	9.4%	cbioportal
4	DSG3	Ssm	3	32	9.4%	cbioportal
5	FAM83H	Ssm	3	32	9.4%	cbioportal
6	MUC16	Ssm	3	32	9.4%	cbioportal
7	NF1	Ssm	3	32	9.4%	cbioportal
8	PIK3CA	Ssm	3	32	9.4%	cbioportal
30	N4BP2	Ssm	2	32	6.3%	cbioportal
10	ABCA6	Ssm	2	32	6.3%	cbioportal
11	ABCB5	Ssm	2	32	6.3%	cbioportal
12	ARHGEF11	Ssm	2	32	6.3%	cbioportal
13	BRAF	Ssm	2	32	6.3%	cbioportal
14	CIC	Ssm	2	32	6.3%	cbioportal
15	CNTNAP5	Ssm	2	32	6.3%	cbioportal
16	COL6A2	Ssm	2	32	6.3%	cbioportal
17	CSMD3	Ssm	2	32	6.3%	cbioportal
18	DOCK10	Ssm	2	32	6.3%	cbioportal
19	FAT2	Ssm	2	32	6.3%	cbioportal
20	FGL2	Ssm	2	32	6.3%	cbioportal
21	FILIP1	Ssm	2	32	6.3%	cbioportal
22	FUBP1	Ssm	2	32	6.3%	cbioportal
23	HYDIN	Ssm	2	32	6.3%	cbioportal
24	LAMA3	Ssm	2	32	6.3%	cbioportal
25	LRP2	Ssm	2	32	6.3%	cbioportal
26	LRTM3	Ssm	2	32	6.3%	cbioportal
27	MAN2B2	Ssm	2	32	6.3%	cbioportal
28	MTOR	Ssm	2	32	6.3%	cbioportal
29	MYH1	Ssm	2	32	6.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Glioblastoma (CPTAC, Cell 2021) gbm_cptac_2021CPTAC

99 cases with simple somatic mutation data · 99 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	32	99	32.3%	cbioportal
2	PTEN	Ssm	27	99	27.3%	cbioportal
3	TTN	Ssm	20	99	20.2%	cbioportal
4	MUC4	Ssm	18	99	18.2%	cbioportal
5	EGFR	Ssm	17	99	17.2%	cbioportal
6	NF1	Ssm	15	99	15.2%	cbioportal
7	PIK3CA	Ssm	11	99	11.1%	cbioportal
9	RB1	Ssm	10	99	10.1%	cbioportal
8	ATRX	Ssm	10	99	10.1%	cbioportal
11	RYR2	Ssm	9	99	9.1%	cbioportal
10	MUC16	Ssm	9	99	9.1%	cbioportal
14	RYR3	Ssm	8	99	8.1%	cbioportal
12	ARHGAP5	Ssm	8	99	8.1%	cbioportal
13	FLG	Ssm	8	99	8.1%	cbioportal
17	IDH1	Ssm	7	99	7.1%	cbioportal
18	MUC17	Ssm	7	99	7.1%	cbioportal
19	PIK3R1	Ssm	7	99	7.1%	cbioportal
20	XPOT	Ssm	7	99	7.1%	cbioportal
16	HMCN1	Ssm	7	99	7.1%	cbioportal
15	HCN1	Ssm	7	99	7.1%	cbioportal
24	FNDC1	Ssm	6	99	6.1%	cbioportal
21	AGL	Ssm	6	99	6.1%	cbioportal
22	BRAF	Ssm	6	99	6.1%	cbioportal
23	DOCK6	Ssm	6	99	6.1%	cbioportal
25	LRP2	Ssm	6	99	6.1%	cbioportal
26	MAGEC1	Ssm	6	99	6.1%	cbioportal
27	PARP4	Ssm	6	99	6.1%	cbioportal
30	ATP4A	Ssm	5	99	5.1%	cbioportal
29	ATP10A	Ssm	5	99	5.1%	cbioportal
28	ADAMTS20	Ssm	5	99	5.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Glioblastoma Multiforme TCGA-GBMTCGA

601 cases with simple somatic mutation data · 617 cases total · Data Release 46.0 · mapped to Glioblastoma CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	461	601	76.7%	gdc
4	MYOF	Ssm	456	601	75.9%	gdc
3	ATRNL1	Ssm	456	601	75.9%	gdc
2	SEC23IP	Ssm	456	601	75.9%	gdc
9	CACUL1	Ssm	455	601	75.7%	gdc
8	PRLHR	Ssm	455	601	75.7%	gdc
12	MCMBP	Ssm	455	601	75.7%	gdc
6	EGFR	Ssm	455	601	75.7%	gdc
5	BAG3	Ssm	455	601	75.7%	gdc
7	INPP5F	Ssm	455	601	75.7%	gdc
11	SORBS1	Ssm	455	601	75.7%	gdc
10	EIF3A	Ssm	455	601	75.7%	gdc
27	TBC1D12	Ssm	454	601	75.5%	gdc
13	TIAL1	Ssm	454	601	75.5%	gdc
14	SFXN4	Ssm	454	601	75.5%	gdc
15	GFRA1	Ssm	454	601	75.5%	gdc
16	SLC18A2	Ssm	454	601	75.5%	gdc
17	PDZD8	Ssm	454	601	75.5%	gdc
18	PNLIPRP1	Ssm	454	601	75.5%	gdc
19	DENND10	Ssm	454	601	75.5%	gdc
20	RGS10	Ssm	454	601	75.5%	gdc
21	CYP26C1	Ssm	454	601	75.5%	gdc
22	LIPK	Ssm	454	601	75.5%	gdc
30	GRK5	Ssm	454	601	75.5%	gdc
29	HSPA12A	Ssm	454	601	75.5%	gdc
23	ACTA2	Ssm	454	601	75.5%	gdc
24	CTBP2	Ssm	454	601	75.5%	gdc
25	RAB11FIP2	Ssm	454	601	75.5%	gdc
26	PNLIPRP3	Ssm	454	601	75.5%	gdc
28	PLPP4	Ssm	454	601	75.5%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Glioblastoma Multiforme (TCGA, Firehose Legacy) gbm_tcgaTCGA

290 cases with simple somatic mutation data · 619 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	90	290	31%	cbioportal
2	TP53	Ssm	84	290	29%	cbioportal
3	EGFR	Ssm	77	290	26.6%	cbioportal
4	TTN	Ssm	74	290	25.5%	cbioportal
5	MUC16	Ssm	47	290	16.2%	cbioportal
6	PIK3R1	Ssm	33	290	11.4%	cbioportal
9	PIK3CA	Ssm	32	290	11%	cbioportal
8	NF1	Ssm	32	290	11%	cbioportal
7	FLG	Ssm	32	290	11%	cbioportal
10	RYR2	Ssm	29	290	10%	cbioportal
11	PCLO	Ssm	28	290	9.7%	cbioportal
12	SPTA1	Ssm	27	290	9.3%	cbioportal
13	RB1	Ssm	25	290	8.6%	cbioportal
14	MUC17	Ssm	23	290	7.9%	cbioportal
16	HMCN1	Ssm	19	290	6.6%	cbioportal
15	AHNAK2	Ssm	19	290	6.6%	cbioportal
17	LRP2	Ssm	18	290	6.2%	cbioportal
18	RYR3	Ssm	18	290	6.2%	cbioportal
20	FRG1BP	Ssm	17	290	5.9%	cbioportal
19	ATRX	Ssm	17	290	5.9%	cbioportal
22	OBSCN	Ssm	16	290	5.5%	cbioportal
23	PKHD1	Ssm	16	290	5.5%	cbioportal
24	TCHH	Ssm	16	290	5.5%	cbioportal
25	USH2A	Ssm	16	290	5.5%	cbioportal
21	DNAH5	Ssm	16	290	5.5%	cbioportal
26	IDH1	Ssm	15	290	5.2%	cbioportal
27	KEL	Ssm	15	290	5.2%	cbioportal
29	APOB	Ssm	14	290	4.8%	cbioportal
28	ADGRV1	Ssm	14	290	4.8%	cbioportal
30	CNTNAP2	Ssm	14	290	4.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Glioblastoma Multiforme (TCGA GDC, 2025) gbm_tcga_gdcTCGA GDC

377 cases with simple somatic mutation data · 611 cases total · 2026-01-13 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	126	377	33.4%	cbioportal
2	TP53	Ssm	121	377	32.1%	cbioportal
3	EGFR	Ssm	85	377	22.5%	cbioportal
4	TTN	Ssm	81	377	21.5%	cbioportal
5	MUC16	Ssm	49	377	13%	cbioportal
6	FLG	Ssm	40	377	10.6%	cbioportal
7	NF1	Ssm	39	377	10.3%	cbioportal
8	RYR2	Ssm	38	377	10.1%	cbioportal
9	PIK3CA	Ssm	36	377	9.5%	cbioportal
11	LRP2	Ssm	35	377	9.3%	cbioportal
10	ATRX	Ssm	35	377	9.3%	cbioportal
12	PIK3R1	Ssm	35	377	9.3%	cbioportal
13	RB1	Ssm	34	377	9%	cbioportal
14	SPTA1	Ssm	28	377	7.4%	cbioportal
15	PCLO	Ssm	27	377	7.2%	cbioportal
16	LRP1	Ssm	26	377	6.9%	cbioportal
17	MUC17	Ssm	25	377	6.6%	cbioportal
18	IDH1	Ssm	24	377	6.4%	cbioportal
21	PKHD1	Ssm	22	377	5.8%	cbioportal
20	HMCN1	Ssm	22	377	5.8%	cbioportal
19	AHNAK2	Ssm	22	377	5.8%	cbioportal
23	DNAH5	Ssm	21	377	5.6%	cbioportal
22	COL6A3	Ssm	21	377	5.6%	cbioportal
25	RIMS2	Ssm	20	377	5.3%	cbioportal
24	PIK3C2B	Ssm	20	377	5.3%	cbioportal
26	DNAH2	Ssm	19	377	5%	cbioportal
27	OBSCN	Ssm	19	377	5%	cbioportal
28	SYNE1	Ssm	19	377	5%	cbioportal
29	USH2A	Ssm	19	377	5%	cbioportal
30	KIF2B	Ssm	18	377	4.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Glioblastoma Multiforme (TCGA, PanCancer Atlas) gbm_tcga_pan_can_atlas_2018TCGA

397 cases with simple somatic mutation data · 592 cases total · 2026-06-05 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	133	397	33.5%	cbioportal
2	TP53	Ssm	125	397	31.5%	cbioportal
3	TTN	Ssm	101	397	25.4%	cbioportal
4	EGFR	Ssm	94	397	23.7%	cbioportal
5	MUC16	Ssm	61	397	15.4%	cbioportal
6	FLG	Ssm	53	397	13.4%	cbioportal
7	NF1	Ssm	46	397	11.6%	cbioportal
8	RYR2	Ssm	43	397	10.8%	cbioportal
9	PIK3R1	Ssm	39	397	9.8%	cbioportal
10	PIK3CA	Ssm	38	397	9.6%	cbioportal
11	RB1	Ssm	38	397	9.6%	cbioportal
12	SPTA1	Ssm	38	397	9.6%	cbioportal
13	ATRX	Ssm	37	397	9.3%	cbioportal
14	SYNE1	Ssm	34	397	8.6%	cbioportal
15	LRP2	Ssm	29	397	7.3%	cbioportal
16	MUC17	Ssm	29	397	7.3%	cbioportal
17	PCLO	Ssm	28	397	7.1%	cbioportal
18	HMCN1	Ssm	27	397	6.8%	cbioportal
19	PKHD1	Ssm	27	397	6.8%	cbioportal
21	OBSCN	Ssm	26	397	6.5%	cbioportal
20	COL6A3	Ssm	26	397	6.5%	cbioportal
22	AHNAK2	Ssm	25	397	6.3%	cbioportal
23	IDH1	Ssm	25	397	6.3%	cbioportal
25	DNAH5	Ssm	24	397	6%	cbioportal
24	DNAH2	Ssm	24	397	6%	cbioportal
26	FAT2	Ssm	22	397	5.5%	cbioportal
28	USH2A	Ssm	22	397	5.5%	cbioportal
27	FLG2	Ssm	22	397	5.5%	cbioportal
30	CFAP47	Ssm	21	397	5.3%	cbioportal
29	APOB	Ssm	21	397	5.3%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Glioblastoma (TCGA, Cell 2013) gbm_tcga_pub2013TCGA

291 cases with simple somatic mutation data · 577 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	69	291	23.7%	cbioportal
2	EGFR	Ssm	61	291	21%	cbioportal
3	TP53	Ssm	59	291	20.3%	cbioportal
4	TTN	Ssm	58	291	19.9%	cbioportal
5	MUC16	Ssm	36	291	12.4%	cbioportal
6	PIK3R1	Ssm	32	291	11%	cbioportal
7	NF1	Ssm	27	291	9.3%	cbioportal
9	SPTA1	Ssm	26	291	8.9%	cbioportal
8	PIK3CA	Ssm	26	291	8.9%	cbioportal
10	FLG	Ssm	24	291	8.2%	cbioportal
11	PCLO	Ssm	24	291	8.2%	cbioportal
12	RYR2	Ssm	21	291	7.2%	cbioportal
13	RB1	Ssm	20	291	6.9%	cbioportal
14	MUC17	Ssm	19	291	6.5%	cbioportal
15	HMCN1	Ssm	18	291	6.2%	cbioportal
16	AHNAK2	Ssm	16	291	5.5%	cbioportal
17	IDH1	Ssm	15	291	5.2%	cbioportal
18	USH2A	Ssm	15	291	5.2%	cbioportal
20	SYNE1	Ssm	14	291	4.8%	cbioportal
19	LRP2	Ssm	14	291	4.8%	cbioportal
21	TCHH	Ssm	14	291	4.8%	cbioportal
22	COL6A3	Ssm	13	291	4.5%	cbioportal
25	RELN	Ssm	12	291	4.1%	cbioportal
23	ADGRV1	Ssm	12	291	4.1%	cbioportal
24	OBSCN	Ssm	12	291	4.1%	cbioportal
26	CNTNAP2	Ssm	11	291	3.8%	cbioportal
30	RYR3	Ssm	11	291	3.8%	cbioportal
28	FRAS1	Ssm	11	291	3.8%	cbioportal
29	KEL	Ssm	11	291	3.8%	cbioportal
27	DNAH5	Ssm	11	291	3.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Glioblastoma (TCGA, Nature 2008) gbm_tcga_pubTCGA

91 cases with simple somatic mutation data · 206 cases total · 2026-02-19 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	31	91	34.1%	cbioportal
2	PTEN	Ssm	29	91	31.9%	cbioportal
3	EGFR	Ssm	15	91	16.5%	cbioportal
4	NF1	Ssm	13	91	14.3%	cbioportal
5	PIK3R1	Ssm	9	91	9.9%	cbioportal
6	RB1	Ssm	9	91	9.9%	cbioportal
7	ERBB2	Ssm	7	91	7.7%	cbioportal
8	PIK3CA	Ssm	6	91	6.6%	cbioportal
9	BCL11A	Ssm	4	91	4.4%	cbioportal
11	MSH6	Ssm	4	91	4.4%	cbioportal
10	CHEK2	Ssm	4	91	4.4%	cbioportal
19	TNC	Ssm	3	91	3.3%	cbioportal
13	CDKN2A	Ssm	3	91	3.3%	cbioportal
14	DST	Ssm	3	91	3.3%	cbioportal
15	EP300	Ssm	3	91	3.3%	cbioportal
16	FN1	Ssm	3	91	3.3%	cbioportal
17	ITGB3	Ssm	3	91	3.3%	cbioportal
18	KMT2B	Ssm	3	91	3.3%	cbioportal
20	TNK2	Ssm	3	91	3.3%	cbioportal
12	BRCA2	Ssm	3	91	3.3%	cbioportal
28	CENPF	Ssm	2	91	2.2%	cbioportal
29	CHAT	Ssm	2	91	2.2%	cbioportal
30	COL1A1	Ssm	2	91	2.2%	cbioportal
25	AGAP2	Ssm	2	91	2.2%	cbioportal
24	ADGRB3	Ssm	2	91	2.2%	cbioportal
23	ADAMTSL3	Ssm	2	91	2.2%	cbioportal
21	A2M	Ssm	2	91	2.2%	cbioportal
22	ABCC4	Ssm	2	91	2.2%	cbioportal
27	BCR	Ssm	2	91	2.2%	cbioportal
26	BCAR1	Ssm	2	91	2.2%	cbioportal

Data updated 22 days agoSource updated 2026-02-19

Glioma (MSK, Clin Cancer Res 2019) glioma_mskcc_2019MSK

1,004 cases with simple somatic mutation data · 1,004 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	604	882	68.5%	cbioportal
2	TP53	Ssm	405	1,004	40.3%	cbioportal
3	IDH1	Ssm	339	1,004	33.8%	cbioportal
4	PTEN	Ssm	246	1,004	24.5%	cbioportal
5	ATRX	Ssm	222	1,004	22.1%	cbioportal
6	EGFR	Ssm	146	1,004	14.5%	cbioportal
7	NF1	Ssm	142	1,004	14.1%	cbioportal
8	CIC	Ssm	128	1,004	12.7%	cbioportal
9	PIK3CA	Ssm	111	1,004	11.1%	cbioportal
10	RB1	Ssm	86	1,004	8.6%	cbioportal
11	PIK3R1	Ssm	83	1,004	8.3%	cbioportal
138	LRP1B	Ssm	13	167	7.8%	cbioportal
12	NOTCH1	Ssm	73	1,004	7.3%	cbioportal
15	FAT1	Ssm	48	882	5.4%	cbioportal
13	SETD2	Ssm	54	1,004	5.4%	cbioportal
14	SMARCA4	Ssm	51	1,004	5.1%	cbioportal
16	KMT2D	Ssm	48	1,004	4.8%	cbioportal
20	FUBP1	Ssm	42	882	4.8%	cbioportal
17	PDGFRA	Ssm	47	1,004	4.7%	cbioportal
19	ARID2	Ssm	44	1,004	4.4%	cbioportal
18	ARID1A	Ssm	44	1,004	4.4%	cbioportal
21	PTPN11	Ssm	42	1,004	4.2%	cbioportal
22	BRAF	Ssm	41	1,004	4.1%	cbioportal
23	STAG2	Ssm	40	1,004	4%	cbioportal
26	ARID1B	Ssm	34	882	3.9%	cbioportal
27	KMT2C	Ssm	34	882	3.9%	cbioportal
24	BCOR	Ssm	38	1,004	3.8%	cbioportal
25	NOTCH3	Ssm	36	1,004	3.6%	cbioportal
28	MED12	Ssm	34	1,004	3.4%	cbioportal
56	ZFHX3	Ssm	24	712	3.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Glioma (MSK, Nature 2019) glioma_msk_2018MSK

91 cases with simple somatic mutation data · 91 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	56	91	61.5%	cbioportal
2	TP53	Ssm	54	91	59.3%	cbioportal
3	IDH1	Ssm	25	91	27.5%	cbioportal
4	ATRX	Ssm	23	91	25.3%	cbioportal
5	PTEN	Ssm	19	91	20.9%	cbioportal
6	PIK3CA	Ssm	17	91	18.7%	cbioportal
7	EGFR	Ssm	16	91	17.6%	cbioportal
8	ARID2	Ssm	15	91	16.5%	cbioportal
9	ARID1A	Ssm	13	91	14.3%	cbioportal
10	NF1	Ssm	13	91	14.3%	cbioportal
11	ZFHX3	Ssm	13	91	14.3%	cbioportal
12	CIC	Ssm	12	91	13.2%	cbioportal
13	CREBBP	Ssm	10	91	11%	cbioportal
14	FAT1	Ssm	10	91	11%	cbioportal
15	NOTCH3	Ssm	10	91	11%	cbioportal
16	RB1	Ssm	10	91	11%	cbioportal
17	PDGFRA	Ssm	9	91	9.9%	cbioportal
18	KMT2C	Ssm	8	91	8.8%	cbioportal
22	SMARCA4	Ssm	8	91	8.8%	cbioportal
21	POLE	Ssm	8	91	8.8%	cbioportal
20	PIK3R2	Ssm	8	91	8.8%	cbioportal
19	MTOR	Ssm	8	91	8.8%	cbioportal
30	NCOR1	Ssm	7	91	7.7%	cbioportal
28	MST1R	Ssm	7	91	7.7%	cbioportal
27	MSH6	Ssm	7	91	7.7%	cbioportal
26	MAP3K1	Ssm	7	91	7.7%	cbioportal
25	KMT2D	Ssm	7	91	7.7%	cbioportal
24	EPHA5	Ssm	7	91	7.7%	cbioportal
23	AR	Ssm	7	91	7.7%	cbioportal
29	NCOA3	Ssm	7	91	7.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Head and Neck Squamous Cell Carcinoma TCGA-HNSCTCGA

528 cases with simple somatic mutation data · 528 cases total · Data Release 46.0 · mapped to Head and Neck Squamous Cell Carcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	392	528	74.2%	gdc
2	PIK3CA	Ssm	390	528	73.9%	gdc
3	CSMD3	Ssm	387	528	73.3%	gdc
4	CDKN2A	Ssm	384	528	72.7%	gdc
5	FAM135B	Ssm	383	528	72.5%	gdc
6	PLD1	Ssm	377	528	71.4%	gdc
7	COL22A1	Ssm	376	528	71.2%	gdc
8	CLDN16	Ssm	374	528	70.8%	gdc
12	SI	Ssm	373	528	70.6%	gdc
11	PKHD1L1	Ssm	373	528	70.6%	gdc
13	TP63	Ssm	373	528	70.6%	gdc
9	BCL6	Ssm	373	528	70.6%	gdc
14	IL1RAP	Ssm	373	528	70.6%	gdc
10	MB21D2	Ssm	373	528	70.6%	gdc
18	COL14A1	Ssm	372	528	70.5%	gdc
20	OSTN	Ssm	372	528	70.5%	gdc
19	SPATA16	Ssm	372	528	70.5%	gdc
17	MUC4	Ssm	372	528	70.5%	gdc
16	RUBCN	Ssm	372	528	70.5%	gdc
15	EIF4G1	Ssm	372	528	70.5%	gdc
23	BDH1	Ssm	371	528	70.3%	gdc
22	FGF12	Ssm	371	528	70.3%	gdc
21	ADCY8	Ssm	371	528	70.3%	gdc
29	NLGN1	Ssm	371	528	70.3%	gdc
30	PLEC	Ssm	371	528	70.3%	gdc
28	FER1L6	Ssm	371	528	70.3%	gdc
27	SLC7A14	Ssm	371	528	70.3%	gdc
26	CCDC50	Ssm	371	528	70.3%	gdc
25	LPP	Ssm	371	528	70.3%	gdc
24	MELTF	Ssm	371	528	70.3%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Head and Neck Squamous Cell Carcinoma (Broad, Science 2011) hnsc_broadBroad

74 cases with simple somatic mutation data · 74 cases total · 2026-01-07 · mapped to Head and Neck Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	46	74	62.2%	cbioportal
2	TTN	Ssm	22	74	29.7%	cbioportal
3	SYNE1	Ssm	15	74	20.3%	cbioportal
4	MUC16	Ssm	14	74	18.9%	cbioportal
5	CSMD3	Ssm	12	74	16.2%	cbioportal
6	USH2A	Ssm	11	74	14.9%	cbioportal
7	RYR2	Ssm	10	74	13.5%	cbioportal
16	ZFHX4	Ssm	9	74	12.2%	cbioportal
15	PRDM9	Ssm	9	74	12.2%	cbioportal
8	CDKN2A	Ssm	9	74	12.2%	cbioportal
14	NOTCH1	Ssm	9	74	12.2%	cbioportal
13	LRP1B	Ssm	9	74	12.2%	cbioportal
12	FAT3	Ssm	9	74	12.2%	cbioportal
11	FAT1	Ssm	9	74	12.2%	cbioportal
10	CUBN	Ssm	9	74	12.2%	cbioportal
9	COL22A1	Ssm	9	74	12.2%	cbioportal
18	FAT4	Ssm	8	74	10.8%	cbioportal
17	FAT2	Ssm	8	74	10.8%	cbioportal
19	HMCN1	Ssm	8	74	10.8%	cbioportal
20	KMT2D	Ssm	8	74	10.8%	cbioportal
21	NAV3	Ssm	8	74	10.8%	cbioportal
22	PCLO	Ssm	8	74	10.8%	cbioportal
23	FLG	Ssm	7	74	9.5%	cbioportal
24	FREM2	Ssm	7	74	9.5%	cbioportal
29	ZNF804B	Ssm	7	74	9.5%	cbioportal
28	THSD7A	Ssm	7	74	9.5%	cbioportal
27	SI	Ssm	7	74	9.5%	cbioportal
26	RIMS2	Ssm	7	74	9.5%	cbioportal
25	NSD1	Ssm	7	74	9.5%	cbioportal
30	ADCY8	Ssm	6	74	8.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Head and Neck Squamous Cell Carcinoma (Johns Hopkins, Science 2011) hnsc_jhuJohns Hopkins

32 cases with simple somatic mutation data · 32 cases total · 2026-01-07 · mapped to Head and Neck Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	22	32	68.8%	cbioportal
3	RELN	Ssm	4	32	12.5%	cbioportal
2	NOTCH1	Ssm	4	32	12.5%	cbioportal
4	SYNE1	Ssm	4	32	12.5%	cbioportal
11	SI	Ssm	3	32	9.4%	cbioportal
6	FLG	Ssm	3	32	9.4%	cbioportal
5	EPHA7	Ssm	3	32	9.4%	cbioportal
8	PIK3AP1	Ssm	3	32	9.4%	cbioportal
7	HRAS	Ssm	3	32	9.4%	cbioportal
9	PIK3CA	Ssm	3	32	9.4%	cbioportal
10	RIMBP2	Ssm	3	32	9.4%	cbioportal
20	ENPP1	Ssm	2	32	6.3%	cbioportal
19	DNAI3	Ssm	2	32	6.3%	cbioportal
18	CSMD3	Ssm	2	32	6.3%	cbioportal
17	CR2	Ssm	2	32	6.3%	cbioportal
16	CELSR3	Ssm	2	32	6.3%	cbioportal
21	FAT4	Ssm	2	32	6.3%	cbioportal
22	FBXW7	Ssm	2	32	6.3%	cbioportal
23	GALNT14	Ssm	2	32	6.3%	cbioportal
24	GRID1	Ssm	2	32	6.3%	cbioportal
25	INSC	Ssm	2	32	6.3%	cbioportal
26	LAMA1	Ssm	2	32	6.3%	cbioportal
27	LRP1B	Ssm	2	32	6.3%	cbioportal
28	MAMDC4	Ssm	2	32	6.3%	cbioportal
15	CDKN2A	Ssm	2	32	6.3%	cbioportal
14	CACNA1D	Ssm	2	32	6.3%	cbioportal
13	ABCD4	Ssm	2	32	6.3%	cbioportal
12	ABCA6	Ssm	2	32	6.3%	cbioportal
29	MICAL2	Ssm	2	32	6.3%	cbioportal
30	MMP16	Ssm	2	32	6.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Head and Neck Squamous Cell Carcinoma (TCGA, Firehose Legacy) hnsc_tcgaTCGA

512 cases with simple somatic mutation data · 530 cases total · 2026-01-07 · mapped to Head and Neck Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	366	512	71.5%	cbioportal
2	TTN	Ssm	217	512	42.4%	cbioportal
3	FAT1	Ssm	115	512	22.5%	cbioportal
4	CDKN2A	Ssm	113	512	22.1%	cbioportal
5	FRG1BP	Ssm	106	512	20.7%	cbioportal
6	CSMD3	Ssm	105	512	20.5%	cbioportal
7	MUC16	Ssm	102	512	19.9%	cbioportal
8	PIK3CA	Ssm	94	512	18.4%	cbioportal
9	SYNE1	Ssm	92	512	18%	cbioportal
10	NOTCH1	Ssm	91	512	17.8%	cbioportal
11	LRP1B	Ssm	90	512	17.6%	cbioportal
12	KMT2D	Ssm	84	512	16.4%	cbioportal
13	PCLO	Ssm	82	512	16%	cbioportal
14	FLG	Ssm	76	512	14.8%	cbioportal
15	DNAH5	Ssm	70	512	13.7%	cbioportal
16	USH2A	Ssm	65	512	12.7%	cbioportal
17	NSD1	Ssm	62	512	12.1%	cbioportal
18	RYR2	Ssm	60	512	11.7%	cbioportal
19	PKHD1L1	Ssm	57	512	11.1%	cbioportal
20	XIRP2	Ssm	55	512	10.7%	cbioportal
22	SI	Ssm	54	512	10.5%	cbioportal
21	CASP8	Ssm	54	512	10.5%	cbioportal
23	AHNAK	Ssm	51	512	10%	cbioportal
25	FAM135B	Ssm	50	512	9.8%	cbioportal
24	DMD	Ssm	50	512	9.8%	cbioportal
26	COL11A1	Ssm	49	512	9.6%	cbioportal
28	PAPPA2	Ssm	46	512	9%	cbioportal
29	PCDH15	Ssm	46	512	9%	cbioportal
30	RELN	Ssm	46	512	9%	cbioportal
27	HUWE1	Ssm	46	512	9%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Head and Neck Squamous Cell Carcinoma (TCGA GDC, 2025) hnsc_tcga_gdcTCGA GDC

510 cases with simple somatic mutation data · 530 cases total · 2026-01-13 · mapped to Head and Neck Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	357	510	70%	cbioportal
2	TTN	Ssm	188	510	36.9%	cbioportal
3	FAT1	Ssm	108	510	21.2%	cbioportal
4	CDKN2A	Ssm	103	510	20.2%	cbioportal
5	CSMD3	Ssm	91	510	17.8%	cbioportal
6	MUC16	Ssm	90	510	17.6%	cbioportal
7	NOTCH1	Ssm	89	510	17.5%	cbioportal
8	PIK3CA	Ssm	85	510	16.7%	cbioportal
9	SYNE1	Ssm	83	510	16.3%	cbioportal
10	LRP1B	Ssm	79	510	15.5%	cbioportal
12	PCLO	Ssm	70	510	13.7%	cbioportal
11	KMT2D	Ssm	70	510	13.7%	cbioportal
13	DNAH5	Ssm	65	510	12.7%	cbioportal
14	FLG	Ssm	58	510	11.4%	cbioportal
15	USH2A	Ssm	58	510	11.4%	cbioportal
16	NSD1	Ssm	56	510	11%	cbioportal
17	CASP8	Ssm	53	510	10.4%	cbioportal
18	RYR2	Ssm	50	510	9.8%	cbioportal
19	XIRP2	Ssm	48	510	9.4%	cbioportal
21	PKHD1L1	Ssm	47	510	9.2%	cbioportal
20	FAM135B	Ssm	47	510	9.2%	cbioportal
22	AHNAK	Ssm	46	510	9%	cbioportal
23	DMD	Ssm	45	510	8.8%	cbioportal
24	DST	Ssm	45	510	8.8%	cbioportal
25	HUWE1	Ssm	45	510	8.8%	cbioportal
26	SI	Ssm	44	510	8.6%	cbioportal
27	PAPPA2	Ssm	43	510	8.4%	cbioportal
28	RELN	Ssm	43	510	8.4%	cbioportal
29	FAT3	Ssm	42	510	8.2%	cbioportal
30	COL11A1	Ssm	41	510	8%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Head and Neck Squamous Cell Carcinoma (TCGA, Nature 2015) hnsc_tcga_pubTCGA

279 cases with simple somatic mutation data · 279 cases total · 2026-01-07 · mapped to Head and Neck Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	207	279	74.2%	cbioportal
2	TTN	Ssm	127	279	45.5%	cbioportal
3	CSMD3	Ssm	66	279	23.7%	cbioportal
4	FAT1	Ssm	64	279	22.9%	cbioportal
5	CDKN2A	Ssm	63	279	22.6%	cbioportal
6	MUC16	Ssm	60	279	21.5%	cbioportal
7	PIK3CA	Ssm	58	279	20.8%	cbioportal
8	LRP1B	Ssm	57	279	20.4%	cbioportal
9	NOTCH1	Ssm	52	279	18.6%	cbioportal
10	KMT2D	Ssm	49	279	17.6%	cbioportal
11	SYNE1	Ssm	49	279	17.6%	cbioportal
12	FLG	Ssm	44	279	15.8%	cbioportal
14	PCLO	Ssm	42	279	15.1%	cbioportal
13	DNAH5	Ssm	42	279	15.1%	cbioportal
15	USH2A	Ssm	36	279	12.9%	cbioportal
16	PKHD1L1	Ssm	35	279	12.5%	cbioportal
17	SI	Ssm	32	279	11.5%	cbioportal
20	RYR2	Ssm	31	279	11.1%	cbioportal
19	FRG1BP	Ssm	31	279	11.1%	cbioportal
18	DMD	Ssm	31	279	11.1%	cbioportal
21	FAM135B	Ssm	30	279	10.8%	cbioportal
22	NSD1	Ssm	29	279	10.4%	cbioportal
23	RELN	Ssm	28	279	10%	cbioportal
24	COL11A1	Ssm	27	279	9.7%	cbioportal
25	LAMA2	Ssm	27	279	9.7%	cbioportal
26	CUBN	Ssm	26	279	9.3%	cbioportal
27	DNAH7	Ssm	26	279	9.3%	cbioportal
30	MUC17	Ssm	25	279	9%	cbioportal
28	ADGRV1	Ssm	25	279	9%	cbioportal
29	CSMD1	Ssm	25	279	9%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Head and Neck Squamous Cell Carcinoma (TCGA, PanCancer Atlas) hnsc_tcga_pan_can_atlas_2018TCGA

515 cases with simple somatic mutation data · 523 cases total · 2026-06-23 · mapped to Head and Neck Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	357	515	69.3%	cbioportal
2	TTN	Ssm	211	515	41%	cbioportal
3	FAT1	Ssm	111	515	21.6%	cbioportal
4	CDKN2A	Ssm	105	515	20.4%	cbioportal
5	MUC16	Ssm	101	515	19.6%	cbioportal
6	CSMD3	Ssm	97	515	18.8%	cbioportal
7	PIK3CA	Ssm	90	515	17.5%	cbioportal
8	NOTCH1	Ssm	88	515	17.1%	cbioportal
9	LRP1B

Data updated 22 days agoSource updated 2026-06-23

Hepatocellular Carcinoma (CLCA, Nature 2024) hcc_clca_2024CLCA

494 cases with simple somatic mutation data · 494 cases total · 2026-01-07 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	255	494	51.6%	cbioportal
2	TERT	Ssm	177	494	35.8%	cbioportal
3	TTN	Ssm	177	494	35.8%	cbioportal
4	MUC16	Ssm	105	494	21.3%	cbioportal
5	CTNNB1	Ssm	102	494	20.6%	cbioportal
6	ALB	Ssm	73	494	14.8%	cbioportal
7	PCLO	Ssm	67	494	13.6%	cbioportal
8	CSMD3	Ssm	65	494	13.2%	cbioportal
9	SYNE1	Ssm	60	494	12.1%	cbioportal
11	OBSCN	Ssm	59	494	11.9%	cbioportal
10	LRP1B	Ssm	59	494	11.9%	cbioportal
12	HMCN1	Ssm	58	494	11.7%	cbioportal
13	AXIN1	Ssm	57	494	11.5%	cbioportal
14	RYR2	Ssm	57	494	11.5%	cbioportal
15	APOB	Ssm	54	494	10.9%	cbioportal
16	ABCA13	Ssm	53	494	10.7%	cbioportal
17	PKHD1L1	Ssm	52	494	10.5%	cbioportal
18	ARID1A	Ssm	51	494	10.3%	cbioportal
19	FBN2	Ssm	51	494	10.3%	cbioportal
20	FAT3	Ssm	50	494	10.1%	cbioportal
22	RYR3	Ssm	47	494	9.5%	cbioportal
21	ADGRV1	Ssm	47	494	9.5%	cbioportal
23	CSMD1	Ssm	43	494	8.7%	cbioportal
24	USH2A	Ssm	43	494	8.7%	cbioportal
25	CSMD2	Ssm	41	494	8.3%	cbioportal
26	RYR1	Ssm	41	494	8.3%	cbioportal
27	XIRP2	Ssm	41	494	8.3%	cbioportal
28	SPTA1	Ssm	40	494	8.1%	cbioportal
29	MUC17	Ssm	39	494	7.9%	cbioportal
30	DNAH10	Ssm	37	494	7.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Hepatocellular Carcinoma (MERiC/Basel, Nat Commun. 2022) hcc_meric_2021MERiC/Basel

122 cases with simple somatic mutation data · 122 cases total · 2026-01-07 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CTNNB1	Ssm	45	122	36.9%	cbioportal
2	TP53	Ssm	41	122	33.6%	cbioportal
3	TTN	Ssm	29	122	23.8%	cbioportal
4	ARID1A	Ssm	24	122	19.7%	cbioportal
5	PCLO	Ssm	24	122	19.7%	cbioportal
6	OBSCN	Ssm	19	122	15.6%	cbioportal
7	MUC16	Ssm	18	122	14.8%	cbioportal
8	ALB	Ssm	17	122	13.9%	cbioportal
9	FLG	Ssm	17	122	13.9%	cbioportal
10	APOB	Ssm	15	122	12.3%	cbioportal
11	CSMD3	Ssm	15	122	12.3%	cbioportal
12	MUC4	Ssm	13	122	10.7%	cbioportal
13	SYNE1	Ssm	13	122	10.7%	cbioportal
14	ADGRV1	Ssm	12	122	9.8%	cbioportal
15	XIRP2	Ssm	12	122	9.8%	cbioportal
17	HYDIN	Ssm	11	122	9%	cbioportal
16	ABCA13	Ssm	11	122	9%	cbioportal
18	LRP1B	Ssm	11	122	9%	cbioportal
21	HMCN1	Ssm	10	122	8.2%	cbioportal
19	COL22A1	Ssm	10	122	8.2%	cbioportal
20	FBN1	Ssm	10	122	8.2%	cbioportal
23	APC	Ssm	9	122	7.4%	cbioportal
28	FASN	Ssm	9	122	7.4%	cbioportal
27	DNAH5	Ssm	9	122	7.4%	cbioportal
26	DNAH17	Ssm	9	122	7.4%	cbioportal
25	CSMD2	Ssm	9	122	7.4%	cbioportal
24	CDKN1A	Ssm	9	122	7.4%	cbioportal
22	ANK3	Ssm	9	122	7.4%	cbioportal
30	GPAM	Ssm	9	122	7.4%	cbioportal
29	FAT3	Ssm	9	122	7.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Hepatocellular Carcinoma (MSK, Clin Cancer Res 2018) hcc_mskimpact_2018MSK

127 cases with simple somatic mutation data · 127 cases total · 2026-01-07 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	68	127	53.5%	cbioportal
2	CTNNB1	Ssm	44	127	34.6%	cbioportal
3	TP53	Ssm	39	127	30.7%	cbioportal
4	ARID1A	Ssm	17	127	13.4%	cbioportal
5	TSC2	Ssm	11	127	8.7%	cbioportal
50	PREX2	Ssm	3	36	8.3%	cbioportal
6	NFE2L2	Ssm	8	127	6.3%	cbioportal
8	AXIN1	Ssm	7	127	5.5%	cbioportal
11	SF3B1	Ssm	7	127	5.5%	cbioportal
10	KMT2D	Ssm	7	127	5.5%	cbioportal
9	JAK1	Ssm	7	127	5.5%	cbioportal
7	APC	Ssm	7	127	5.5%	cbioportal
13	BAP1	Ssm	6	127	4.7%	cbioportal
12	ARID2	Ssm	6	127	4.7%	cbioportal
23	ZRSR2	Ssm	5	106	4.7%	cbioportal
22	SETD2	Ssm	5	127	3.9%	cbioportal
20	PTPRT	Ssm	5	127	3.9%	cbioportal
19	NOTCH1	Ssm	5	127	3.9%	cbioportal
18	KMT2A	Ssm	5	127	3.9%	cbioportal
17	KDR	Ssm	5	127	3.9%	cbioportal
16	IGF1R	Ssm	5	127	3.9%	cbioportal
15	CDKN1A	Ssm	5	127	3.9%	cbioportal
14	ALK	Ssm	5	127	3.9%	cbioportal
21	RB1	Ssm	5	127	3.9%	cbioportal
35	ZFHX3	Ssm	4	106	3.8%	cbioportal
33	PTPRS	Ssm	4	127	3.1%	cbioportal
26	KDM5A	Ssm	4	127	3.1%	cbioportal
24	CDKN2A	Ssm	4	127	3.1%	cbioportal
28	LATS1	Ssm	4	127	3.1%	cbioportal
27	KIT	Ssm	4	127	3.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Hepatocellular Carcinoma (MSK, Clin Cancer Res 2024) hcc_msk_2024MSK

1,370 cases with simple somatic mutation data · 1,370 cases total · 2026-01-07 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	466	1,370	34%	cbioportal
2	ARID1A	Ssm	226	1,370	16.5%	cbioportal
3	TERT	Ssm	225	1,370	16.4%	cbioportal
4	KRAS	Ssm	152	1,370	11.1%	cbioportal
5	IDH1	Ssm	141	1,370	10.3%	cbioportal
6	CTNNB1	Ssm	132	1,370	9.6%	cbioportal
7	BAP1	Ssm	117	1,370	8.5%	cbioportal
85	ALB	Ssm	18	221	8.1%	cbioportal
8	SMAD4	Ssm	103	1,370	7.5%	cbioportal
9	PBRM1	Ssm	95	1,370	6.9%	cbioportal
10	ATM	Ssm	74	1,370	5.4%	cbioportal
11	KMT2C	Ssm	69	1,370	5%	cbioportal
13	PIK3CA	Ssm	67	1,370	4.9%	cbioportal
12	ARID2	Ssm	67	1,370	4.9%	cbioportal
18	ELF3	Ssm	47	998	4.7%	cbioportal
14	KMT2D	Ssm	64	1,370	4.7%	cbioportal
15	CDKN2A	Ssm	62	1,370	4.5%	cbioportal
16	BRAF	Ssm	52	1,370	3.8%	cbioportal
32	PREX2	Ssm	35	998	3.5%	cbioportal
17	NF1	Ssm	48	1,370	3.5%	cbioportal
20	RB1	Ssm	44	1,370	3.2%	cbioportal
19	ERBB3	Ssm	44	1,370	3.2%	cbioportal
21	KMT2A	Ssm	42	1,370	3.1%	cbioportal
23	FGFR2	Ssm	41	1,370	3%	cbioportal
22	APC	Ssm	41	1,370	3%	cbioportal
24	STK11	Ssm	41	1,370	3%	cbioportal
41	KMT2B	Ssm	29	998	2.9%	cbioportal
28	ZFHX3	Ssm	37	1,284	2.9%	cbioportal
25	AXIN1	Ssm	39	1,370	2.8%	cbioportal
27	RASA1	Ssm	37	1,370	2.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Hepatocellular Carcinoma (MSK, JCO Precis Oncol 2023) hcc_jcopo_msk_2023MSK

90 cases with simple somatic mutation data · 90 cases total · 2026-01-07 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	54	90	60%	cbioportal
2	TP53	Ssm	45	90	50%	cbioportal
3	CTNNB1	Ssm	35	90	38.9%	cbioportal
4	TSC2	Ssm	26	90	28.9%	cbioportal
28	ALB	Ssm	2	7	28.6%	cbioportal
5	ARID1A	Ssm	20	90	22.2%	cbioportal
103	SETDB1	Ssm	1	7	14.3%	cbioportal
9	AXIN1	Ssm	5	37	13.5%	cbioportal
15	CDKN1A	Ssm	4	37	10.8%	cbioportal
6	PIK3CA	Ssm	9	90	10%	cbioportal
7	APC	Ssm	8	90	8.9%	cbioportal
25	PTPRD	Ssm	3	37	8.1%	cbioportal
23	KMT2D	Ssm	3	37	8.1%	cbioportal
8	NF1	Ssm	7	90	7.8%	cbioportal
42	KMT2B	Ssm	2	27	7.4%	cbioportal
34	EPHA7	Ssm	2	35	5.7%	cbioportal
39	H3-4	Ssm	2	35	5.7%	cbioportal
55	ZRSR2	Ssm	2	35	5.7%	cbioportal
48	PPM1D	Ssm	2	35	5.7%	cbioportal
54	ZFHX3	Ssm	2	35	5.7%	cbioportal
10	KDM6A	Ssm	5	90	5.6%	cbioportal
11	NFE2L2	Ssm	5	90	5.6%	cbioportal
12	PAK5	Ssm	5	90	5.6%	cbioportal
32	CDK12	Ssm	2	37	5.4%	cbioportal
31	BAP1	Ssm	2	37	5.4%	cbioportal
40	INPP4B	Ssm	2	37	5.4%	cbioportal
13	ATM	Ssm	4	90	4.4%	cbioportal
16	DNMT3A	Ssm	4	90	4.4%	cbioportal
19	TSC1	Ssm	4	90	4.4%	cbioportal
14	BRCA1	Ssm	4	90	4.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Hepatocellular Carcinomas (INSERM, Nat Genet 2015) hcc_inserm_fr_2015INSERM

243 cases with simple somatic mutation data · 243 cases total · 2026-01-07 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	139	243	57.2%	cbioportal
2	CTNNB1	Ssm	88	243	36.2%	cbioportal
3	TP53	Ssm	54	243	22.2%	cbioportal
4	TTN	Ssm	52	243	21.4%	cbioportal
5	MUC16	Ssm	28	243	11.5%	cbioportal
6	ALB	Ssm	27	243	11.1%	cbioportal
7	ARID1A	Ssm	24	243	9.9%	cbioportal
8	APOB	Ssm	22	243	9.1%	cbioportal
9	AXIN1	Ssm	21	243	8.6%	cbioportal
10	PCLO	Ssm	21	243	8.6%	cbioportal
11	CSMD1	Ssm	20	243	8.2%	cbioportal
12	RYR2	Ssm	20	243	8.2%	cbioportal
13	OBSCN	Ssm	19	243	7.8%	cbioportal
14	COL11A1	Ssm	18	243	7.4%	cbioportal
15	DNAH7	Ssm	16	243	6.6%	cbioportal
16	ARID2	Ssm	15	243	6.2%	cbioportal
20	RPS6KA3	Ssm	15	243	6.2%	cbioportal
19	PCDH15	Ssm	15	243	6.2%	cbioportal
18	FBN2	Ssm	15	243	6.2%	cbioportal
17	CSMD3	Ssm	15	243	6.2%	cbioportal
21	DNAH9	Ssm	14	243	5.8%	cbioportal
22	KMT2D	Ssm	14	243	5.8%	cbioportal
23	LRP1B	Ssm	14	243	5.8%	cbioportal
24	NFE2L2	Ssm	14	243	5.8%	cbioportal
25	RYR1	Ssm	14	243	5.8%	cbioportal
26	SPTA1	Ssm	14	243	5.8%	cbioportal
27	USH2A	Ssm	14	243	5.8%	cbioportal
28	FRAS1	Ssm	13	243	5.3%	cbioportal
29	ATM	Ssm	12	243	4.9%	cbioportal
30	DNAH5	Ssm	12	243	4.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Hepatocellular Carcinoma (TCGA GDC, 2025) hcc_tcga_gdcTCGA GDC

370 cases with simple somatic mutation data · 379 cases total · 2026-01-13 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	107	370	28.9%	cbioportal
2	CTNNB1	Ssm	95	370	25.7%	cbioportal
3	TTN	Ssm	90	370	24.3%	cbioportal
4	MUC16	Ssm	59	370	15.9%	cbioportal
5	ALB	Ssm	48	370	13%	cbioportal
6	PCLO	Ssm	42	370	11.4%	cbioportal
7	RYR2	Ssm	34	370	9.2%	cbioportal
8	LRP1B	Ssm	32	370	8.6%	cbioportal
9	APOB	Ssm	31	370	8.4%	cbioportal
10	CSMD3	Ssm	29	370	7.8%	cbioportal
11	XIRP2	Ssm	29	370	7.8%	cbioportal
12	ARID1A	Ssm	28	370	7.6%	cbioportal
13	OBSCN	Ssm	28	370	7.6%	cbioportal
14	ABCA13	Ssm	27	370	7.3%	cbioportal
15	FLG	Ssm	27	370	7.3%	cbioportal
16	AXIN1	Ssm	26	370	7%	cbioportal
17	HMCN1	Ssm	26	370	7%	cbioportal
18	CACNA1E	Ssm	25	370	6.8%	cbioportal
20	SPTA1	Ssm	24	370	6.5%	cbioportal
19	CUBN	Ssm	24	370	6.5%	cbioportal
21	USH2A	Ssm	24	370	6.5%	cbioportal
22	ADGRV1	Ssm	23	370	6.2%	cbioportal
24	DOCK2	Ssm	23	370	6.2%	cbioportal
23	DNAH7	Ssm	23	370	6.2%	cbioportal
25	RYR1	Ssm	22	370	5.9%	cbioportal
30	PRKDC	Ssm	21	370	5.7%	cbioportal
29	FAT3	Ssm	21	370	5.7%	cbioportal
28	DMD	Ssm	21	370	5.7%	cbioportal
26	COL11A1	Ssm	21	370	5.7%	cbioportal
27	CSMD1	Ssm	21	370	5.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Hereditary SDHB-Mutant Pheochromocytomas and Paragangliomas (A5 Consortium, Nature Comm 2025) hnsc_a5consortium_2025A5 Consortium

94 cases with simple somatic mutation data · 94 cases total · 2026-01-07 · mapped to Head and Neck Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SDHB	Ssm	66	94	70.2%	cbioportal
2	TERT	Ssm	18	94	19.1%	cbioportal
3	MUC17	Ssm	13	94	13.8%	cbioportal
5	TEX13C	Ssm	11	94	11.7%	cbioportal
4	GTF2I	Ssm	11	94	11.7%	cbioportal
6	ATRX	Ssm	9	94	9.6%	cbioportal
8	TCHH	Ssm	6	94	6.4%	cbioportal
7	MDC1	Ssm	6	94	6.4%	cbioportal
10	FAM47C	Ssm	5	94	5.3%	cbioportal
9	BLOC1S5-TXNDC5	Ssm	5	94	5.3%	cbioportal
12	OBSCN	Ssm	5	94	5.3%	cbioportal
11	FLG2	Ssm	5	94	5.3%	cbioportal
24	PCNT	Ssm	4	94	4.3%	cbioportal
13	ADAMTS2	Ssm	4	94	4.3%	cbioportal
22	NBPF11	Ssm	4	94	4.3%	cbioportal
23	NOX5	Ssm	4	94	4.3%	cbioportal
25	PRR5-ARHGAP8	Ssm	4	94	4.3%	cbioportal
27	TTN	Ssm	4	94	4.3%	cbioportal
26	SECISBP2L	Ssm	4	94	4.3%	cbioportal
14	BCOR	Ssm	4	94	4.3%	cbioportal
15	BCR	Ssm	4	94	4.3%	cbioportal
16	CACNA1A	Ssm	4	94	4.3%	cbioportal
17	CACNA1E	Ssm	4	94	4.3%	cbioportal
18	DST	Ssm	4	94	4.3%	cbioportal
19	LINC01618	Ssm	4	94	4.3%	cbioportal
20	MED12	Ssm	4	94	4.3%	cbioportal
21	MUC5AC	Ssm	4	94	4.3%	cbioportal
28	AHNAK	Ssm	3	94	3.2%	cbioportal
30	ANKRD30B	Ssm	3	94	3.2%	cbioportal
29	AMOTL2	Ssm	3	94	3.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

High-Grade Serous Ovarian Cancer (MSK, NPJ Genome Med 2021) hgsoc_msk_2021MSK

45 cases with simple somatic mutation data · 45 cases total · 2026-01-07 · mapped to High-Grade Serous Ovarian Cancer EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	44	45	97.8%	cbioportal
2	BRCA2	Ssm	5	45	11.1%	cbioportal
3	KMT2D	Ssm	4	45	8.9%	cbioportal
9	AGO2	Ssm	2	28	7.1%	cbioportal
8	NTRK3	Ssm	3	45	6.7%	cbioportal
7	KMT2C	Ssm	3	45	6.7%	cbioportal
5	BRD4	Ssm	3	45	6.7%	cbioportal
6	KDM5A	Ssm	3	45	6.7%	cbioportal
4	BRCA1	Ssm	3	45	6.7%	cbioportal
18	MGA	Ssm	2	36	5.6%	cbioportal
16	INPP4B	Ssm	2	45	4.4%	cbioportal
17	KIT	Ssm	2	45	4.4%	cbioportal
19	MRE11	Ssm	2	45	4.4%	cbioportal
21	PDGFRA	Ssm	2	45	4.4%	cbioportal
20	NCOR1	Ssm	2	45	4.4%	cbioportal
22	PIK3CA	Ssm	2	45	4.4%	cbioportal
24	PPP2R1A	Ssm	2	45	4.4%	cbioportal
10	APC	Ssm	2	45	4.4%	cbioportal
11	AR	Ssm	2	45	4.4%	cbioportal
12	ATRX	Ssm	2	45	4.4%	cbioportal
13	CDK12	Ssm	2	45	4.4%	cbioportal
14	EPHA5	Ssm	2	45	4.4%	cbioportal
15	FLT1	Ssm	2	45	4.4%	cbioportal
23	PIK3R2	Ssm	2	45	4.4%	cbioportal
80	PRKCI	Ssm	1	28	3.6%	cbioportal
79	PREX2	Ssm	1	28	3.6%	cbioportal
90	RRAGC	Ssm	1	28	3.6%	cbioportal
45	EZH1	Ssm	1	28	3.6%	cbioportal
61	INPPL1	Ssm	1	28	3.6%	cbioportal
93	SESN1	Ssm	1	28	3.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

High-Grade Serous Ovarian Cancer (TCGA GDC, 2025) hgsoc_tcga_gdcTCGA GDC

405 cases with simple somatic mutation data · 604 cases total · 2026-01-13 · mapped to High-Grade Serous Ovarian Cancer EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	369	405	91.1%	cbioportal
2	TTN	Ssm	96	405	23.7%	cbioportal
3	CSMD3	Ssm	36	405	8.9%	cbioportal
4	USH2A	Ssm	31	405	7.7%	cbioportal
5	NF1	Ssm	29	405	7.2%	cbioportal
6	RYR2	Ssm	28	405	6.9%	cbioportal
7	HMCN1	Ssm	26	405	6.4%	cbioportal
8	MUC16	Ssm	26	405	6.4%	cbioportal
9	FAT3	Ssm	23	405	5.7%	cbioportal
11	SI	Ssm	22	405	5.4%	cbioportal
10	MACF1	Ssm	22	405	5.4%	cbioportal
15	MUC17	Ssm	21	405	5.2%	cbioportal
13	APOB	Ssm	21	405	5.2%	cbioportal
14	FLG2	Ssm	21	405	5.2%	cbioportal
12	AHNAK	Ssm	21	405	5.2%	cbioportal
19	LRP1B	Ssm	20	405	4.9%	cbioportal
17	DNAH3	Ssm	20	405	4.9%	cbioportal
18	FLG	Ssm	20	405	4.9%	cbioportal
16	CDK12	Ssm	20	405	4.9%	cbioportal
20	BRCA1	Ssm	19	405	4.7%	cbioportal
22	DST	Ssm	19	405	4.7%	cbioportal
23	LRP1	Ssm	19	405	4.7%	cbioportal
21	DNAH5	Ssm	19	405	4.7%	cbioportal
28	TG	Ssm	18	405	4.4%	cbioportal
25	FCGBP	Ssm	18	405	4.4%	cbioportal
26	SYNE1	Ssm	18	405	4.4%	cbioportal
27	SYNE2	Ssm	18	405	4.4%	cbioportal
24	COL6A3	Ssm	18	405	4.4%	cbioportal
30	DNAH8	Ssm	17	405	4.2%	cbioportal
29	DNAH10	Ssm	17	405	4.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

High-Risk Wilms Tumor TARGET-WTTARGET

631 cases with simple somatic mutation data · 652 cases total · Data Release 46.0 · mapped to Wilms Tumor CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	13	631	2.1%	gdc
3	TTN	Ssm	3	631	0.5%	gdc
2	BCOR	Ssm	3	631	0.5%	gdc
5	WT1	Ssm	2	631	0.3%	gdc
6	FAM184B	Ssm	2	631	0.3%	gdc
4	CSMD2	Ssm	2	631	0.3%	gdc
9	TENM1	Ssm	2	631	0.3%	gdc
8	TNRC18	Ssm	2	631	0.3%	gdc
7	MLLT1	Ssm	2	631	0.3%	gdc
24	CREBBP	Ssm	1	631	0.2%	gdc
23	CDH8	Ssm	1	631	0.2%	gdc
22	PCDHGA4	Ssm	1	631	0.2%	gdc
21	MED12	Ssm	1	631	0.2%	gdc
19	TOGARAM2	Ssm	1	631	0.2%	gdc
20	APOBEC3H	Ssm	1	631	0.2%	gdc
10	PLXNA4	Ssm	1	631	0.2%	gdc
11	FAM71E2	Ssm	1	631	0.2%	gdc
12	LRRC71	Ssm	1	631	0.2%	gdc
13	IDH2	Ssm	1	631	0.2%	gdc
14	STK11IP	Ssm	1	631	0.2%	gdc
15	AL133500.1	Ssm	1	631	0.2%	gdc
16	PGK2	Ssm	1	631	0.2%	gdc
17	CCSER1	Ssm	1	631	0.2%	gdc
30	VPS13B	Ssm	1	631	0.2%	gdc
29	PPP1CC	Ssm	1	631	0.2%	gdc
28	ASB5	Ssm	1	631	0.2%	gdc
27	ZNF554	Ssm	1	631	0.2%	gdc
26	GALNT5	Ssm	1	631	0.2%	gdc
18	NBAS	Ssm	1	631	0.2%	gdc
25	KIFC3	Ssm	1	631	0.2%	gdc

Data updated 23 days agoSource updated Data Release 46.0

HIV+ Tumor Molecular Characterization Project - Cervical Cancer CGCI-HTMCP-CCCGCI

208 cases with simple somatic mutation data · 212 cases total · Data Release 46.0 · mapped to Cervical Carcinoma CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	112	208	53.8%	gdc
2	MUC4	Ssm	100	208	48.1%	gdc
3	LRCH3	Ssm	98	208	47.1%	gdc
12	MUC20	Ssm	97	208	46.6%	gdc
11	PIGZ	Ssm	97	208	46.6%	gdc
10	CEP19	Ssm	97	208	46.6%	gdc
9	NCBP2	Ssm	97	208	46.6%	gdc
8	NRROS	Ssm	97	208	46.6%	gdc
7	DLG1	Ssm	97	208	46.6%	gdc
6	NCBP2AS2	Ssm	97	208	46.6%	gdc
5	PIGX	Ssm	97	208	46.6%	gdc
4	SENP5	Ssm	97	208	46.6%	gdc
13	PAK2	Ssm	97	208	46.6%	gdc
28	SMCO1	Ssm	96	208	46.2%	gdc
29	SI	Ssm	96	208	46.2%	gdc
30	FBXO45	Ssm	96	208	46.2%	gdc
15	RUBCN	Ssm	96	208	46.2%	gdc
14	SLC51A	Ssm	96	208	46.2%	gdc
16	WDR53	Ssm	96	208	46.2%	gdc
17	RNF168	Ssm	96	208	46.2%	gdc
18	FYTTD1	Ssm	96	208	46.2%	gdc
19	UBXN7	Ssm	96	208	46.2%	gdc
20	TM4SF19-TCTEX1D2	Ssm	96	208	46.2%	gdc
21	TM4SF19	Ssm	96	208	46.2%	gdc
22	BDH1	Ssm	96	208	46.2%	gdc
23	TFRC	Ssm	96	208	46.2%	gdc
24	MELTF	Ssm	96	208	46.2%	gdc
25	PCYT1A	Ssm	96	208	46.2%	gdc
26	TCTEX1D2	Ssm	96	208	46.2%	gdc
27	AC069257.3	Ssm	96	208	46.2%	gdc

Data updated 23 days agoSource updated Data Release 46.0

HIV+ Tumor Molecular Characterization Project - Diffuse Large B-Cell Lymphoma CGCI-HTMCP-DLBCLCGCI

50 cases with simple somatic mutation data · 70 cases total · Data Release 46.0 · mapped to Diffuse Large B-Cell Lymphoma CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TPTE	Ssm	27	50	54%	gdc
3	PRSS2	Ssm	22	50	44%	gdc
2	MTRNR2L6	Ssm	22	50	44%	gdc
4	PRSS1	Ssm	22	50	44%	gdc
5	FOXD4L5	Ssm	21	50	42%	gdc
6	GLB1L2	Ssm	20	50	40%	gdc
8	OR11H12	Ssm	20	50	40%	gdc
7	B3GAT1	Ssm	20	50	40%	gdc
18	KCNE1B	Ssm	19

Data updated 23 days agoSource updated Data Release 46.0

HIV+ Tumor Molecular Characterization Project - Lung Cancer CGCI-HTMCP-LCCGCI

37 cases with simple somatic mutation data · 39 cases total · Data Release 46.0 · mapped to Malignant Lung Neoplasm CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
4	USP17L8	Ssm	26	37	70.3%	gdc
1	USP17L3	Ssm	26	37	70.3%	gdc
2	FAM86B1	Ssm	26	37	70.3%	gdc
3	ZNF705B	Ssm	26	37	70.3%	gdc
25	USP17L7	Ssm	25	37	67.6%	gdc
20	DEFB103B	Ssm	25	37	67.6%	gdc
23	ZNF705G	Ssm	25	37	67.6%	gdc
21	USP17L2	Ssm	25	37	67.6%	gdc
22	SMIM34B	Ssm	25	37	67.6%	gdc
19	SPAG11B	Ssm	25	37	67.6%	gdc
18	DEFB4A	Ssm	25	37	67.6%	gdc
17	DEFB104A	Ssm	25	37	67.6%	gdc
16	FAM86B2	Ssm	25	37	67.6%	gdc
15	KCNE1B	Ssm	25	37	67.6%	gdc
14	DEFB4B	Ssm	25	37	67.6%	gdc
13	SMIM11B	Ssm	25	37	67.6%	gdc
12	DEFB130A	Ssm	25	37	67.6%	gdc
11	DEFB104B	Ssm	25	37	67.6%	gdc
10	SPAG11A	Ssm	25	37	67.6%	gdc
9	DEFB107B	Ssm	25	37	67.6%	gdc
8	DEFB106B	Ssm	25	37	67.6%	gdc
7	FAM153A	Ssm	25	37	67.6%	gdc
6	DEFB105B	Ssm	25	37	67.6%	gdc
5	DEFB103A	Ssm	25	37	67.6%	gdc
24	FAM243B	Ssm	25	37	67.6%	gdc
28	PRR23D1	Ssm	24	37	64.9%	gdc
26	DEFB105A	Ssm	24	37	64.9%	gdc
27	FAM90A9P	Ssm	24	37	64.9%	gdc
29	FAM90A16P	Ssm	24	37	64.9%	gdc
30	DEFB107A	Ssm	24	37	64.9%	gdc

Data updated 23 days agoSource updated Data Release 46.0

IDH-mutated Diffuse Glioma (MSK, Clin Cancer Res 2024) difg_msk_2023MSK

73 cases with simple somatic mutation data · 73 cases total · 2026-01-16 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	68	73	93.2%	cbioportal
2	TERT	Ssm	45	73	61.6%	cbioportal
4	TP53	Ssm	31	73	42.5%	cbioportal
3	CIC	Ssm	31	73	42.5%	cbioportal
5	ATRX	Ssm	25	73	34.2%	cbioportal
6	NOTCH1	Ssm	12	73	16.4%	cbioportal
7	FUBP1	Ssm	11	73	15.1%	cbioportal
8	ARID1B	Ssm	8	73	11%	cbioportal
9	KMT2C	Ssm	7	73	9.6%	cbioportal
11	PIK3CA	Ssm	7	73	9.6%	cbioportal
10	KMT2D	Ssm	7	73	9.6%	cbioportal
12	SMARCA4	Ssm	7	73	9.6%	cbioportal
13	FAT1	Ssm	6	73	8.2%	cbioportal
38	KMT2B	Ssm	3	40	7.5%	cbioportal
47	PRKD1	Ssm	3	40	7.5%	cbioportal
15	ASXL1	Ssm	5	73	6.8%	cbioportal
14	ARID1A	Ssm	5	73	6.8%	cbioportal
16	IDH2	Ssm	5	73	6.8%	cbioportal
17	PDGFRB	Ssm	5	73	6.8%	cbioportal
22	MDC1	Ssm	4	73	5.5%	cbioportal
20	DIS3	Ssm	4	73	5.5%	cbioportal
21	DOT1L	Ssm	4	73	5.5%	cbioportal
24	SETD2	Ssm	4	73	5.5%	cbioportal
18	BRCA1	Ssm	4	73	5.5%	cbioportal
19	CREBBP	Ssm	4	73	5.5%	cbioportal
23	NF1	Ssm	4	73	5.5%	cbioportal
101	PRDM14	Ssm	2	40	5%	cbioportal
96	NSD2	Ssm	2	40	5%	cbioportal
106	RTEL1	Ssm	2	40	5%	cbioportal
90	MSI1	Ssm	2	40	5%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Insulinoma (Shanghai, Nat Commun 2013) panet_shanghai_2013Shanghai

10 cases with simple somatic mutation data · 10 cases total · 2026-01-12 · mapped to Pancreatic Neuroendocrine Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	YY1	Ssm	3	10	30%	cbioportal
5	CBLL2	Ssm	1	10	10%	cbioportal
2	ABHD18	Ssm	1	10	10%	cbioportal
3	AMOTL1	Ssm	1	10	10%	cbioportal
27	NLRC3	Ssm	1	10	10%	cbioportal
28	NOTCH1	Ssm	1	10	10%	cbioportal
29	NRXN1	Ssm	1	10	10%	cbioportal
30	NTAQ1	Ssm	1	10	10%	cbioportal
26	NELL2	Ssm	1	10	10%	cbioportal
25	MYOZ1	Ssm	1	10	10%	cbioportal
24	MTUS1	Ssm	1	10	10%	cbioportal
23	MTRF1	Ssm	1	10	10%	cbioportal
22	MICAL2	Ssm	1	10	10%	cbioportal
21	LMO2	Ssm	1	10	10%	cbioportal
20	KRTAP4-3	Ssm	1	10	10%	cbioportal
19	KPNA2	Ssm	1	10	10%	cbioportal
18	KLHL17	Ssm	1	10	10%	cbioportal
17	ITGAM	Ssm	1	10	10%	cbioportal
16	ITGA1	Ssm	1	10	10%	cbioportal
15	IRAG1	Ssm	1	10	10%	cbioportal
14	HSPA5	Ssm	1	10	10%	cbioportal
13	HNRNPK	Ssm	1	10	10%	cbioportal
12	HERC6	Ssm	1	10	10%	cbioportal
11	H3-3A	Ssm	1	10	10%	cbioportal
10	FPGS	Ssm	1	10	10%	cbioportal
9	CRYBB1	Ssm	1	10	10%	cbioportal
8	CPNE3	Ssm	1	10	10%	cbioportal
7	CLDN14	Ssm	1	10	10%	cbioportal
6	CKAP2L	Ssm	1	10	10%	cbioportal
4	BLTP2	Ssm	1	10	10%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Intrahepatic Cholangiocarcinoma (JHU, Nat Genet 2013) chol_jhu_2013JHU

40 cases with simple somatic mutation data · 40 cases total · 2026-01-06 · mapped to Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	TP53	Ssm	8	40	20%	cbioportal
1	BAP1	Ssm	8	40	20%	cbioportal
3	PBRM1	Ssm	7	40	17.5%	cbioportal
4	ARID1A	Ssm	6	40	15%	cbioportal
5	FGFR2	Ssm	4	40	10%	cbioportal
7	TTN	Ssm	4	40	10%	cbioportal
6	IDH1	Ssm	4	40	10%	cbioportal
8	CSMD1	Ssm	3	40	7.5%	cbioportal
14	FAT1	Ssm	3	40	7.5%	cbioportal
13	EPHA2	Ssm	3	40	7.5%	cbioportal
20	UBE2O	Ssm	3	40	7.5%	cbioportal
12	DNAH9	Ssm	3	40	7.5%	cbioportal
11	DNAH6	Ssm	3	40	7.5%	cbioportal
10	DNAH11	Ssm	3	40	7.5%	cbioportal
9	CSMD3	Ssm	3	40	7.5%	cbioportal
19	SORCS3	Ssm	3	40	7.5%	cbioportal
18	PIK3CA	Ssm	3	40	7.5%	cbioportal
17	NIPBL	Ssm	3	40	7.5%	cbioportal
16	HRNR	Ssm	3	40	7.5%	cbioportal
15	FAT4	Ssm	3	40	7.5%	cbioportal
73	NOTCH2	Ssm	2	40	5%	cbioportal
72	NCOA1	Ssm	2	40	5%	cbioportal
70	MUC16	Ssm	2	40	5%	cbioportal
69	MPRIP	Ssm	2	40	5%	cbioportal
68	MPDZ	Ssm	2	40	5%	cbioportal
67	MED13	Ssm	2	40	5%	cbioportal
66	MAST3	Ssm	2	40	5%	cbioportal
65	MAN2B2	Ssm	2	40	5%	cbioportal
71	MYOM3	Ssm	2	40	5%	cbioportal
74	NRXN1	Ssm	2	40	5%	cbioportal

Data updated 22 days agoSource updated 2026-01-06

Intrahepatic Cholangiocarcinoma (Mount Sinai 2015) ihch_ismms_2015

8 cases with simple somatic mutation data · 8 cases total · 2026-01-07 · mapped to Intrahepatic Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ACAN	Ssm	2	8	25%	cbioportal
3	MUC16	Ssm	2	8	25%	cbioportal
2	ARAF	Ssm	2	8	25%	cbioportal
82	NR3C2	Ssm	1	8	12.5%	cbioportal
83	NRCAM	Ssm	1	8	12.5%	cbioportal
84	NUDCD1	Ssm	1	8	12.5%	cbioportal
85	OBSCN	Ssm	1	8	12.5%	cbioportal
86	OR8U1	Ssm	1	8	12.5%	cbioportal
87	PAX8	Ssm	1	8	12.5%	cbioportal
88	PDE4D	Ssm	1	8	12.5%	cbioportal
89	PEG3	Ssm	1	8	12.5%	cbioportal
90	PIWIL2	Ssm	1	8	12.5%	cbioportal
91	PKD2L1	Ssm	1	8	12.5%	cbioportal
92	PKHD1L1	Ssm	1	8	12.5%	cbioportal
93	PLEKHB2	Ssm	1	8	12.5%	cbioportal
94	PLIN4	Ssm	1	8	12.5%	cbioportal
95	PRAMEF14	Ssm	1	8	12.5%	cbioportal
96	PRAMEF19	Ssm	1	8	12.5%	cbioportal
97	PRAMEF22	Ssm	1	8	12.5%	cbioportal
98	PREX2	Ssm	1	8	12.5%	cbioportal
99	PRPF40A	Ssm	1	8	12.5%	cbioportal
79	NEU3	Ssm	1	8	12.5%	cbioportal
78	NEK8	Ssm	1	8	12.5%	cbioportal
77	NBPF8	Ssm	1	8	12.5%	cbioportal
76	NADK2	Ssm	1	8	12.5%	cbioportal
75	MYO6	Ssm	1	8	12.5%	cbioportal
74	MYH13	Ssm	1	8	12.5%	cbioportal
73	MYH1	Ssm	1	8	12.5%	cbioportal
80	NMD3	Ssm	1	8	12.5%	cbioportal
81	NPAP1	Ssm	1	8	12.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Intrahepatic Cholangiocarcinoma (MSK, Clin Cancer Res 2021) ihch_mskcc_2020MSK

199 cases with simple somatic mutation data · 219 cases total · 2026-04-07 · mapped to Intrahepatic Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	45	199	22.6%	cbioportal
2	BAP1	Ssm	39	199	19.6%	cbioportal
3	ARID1A	Ssm	35	199	17.6%	cbioportal
4	TP53	Ssm	32	199	16.1%	cbioportal
5	PBRM1	Ssm	25	199	12.6%	cbioportal
6	KRAS	Ssm	19	199	9.5%	cbioportal
7	RASA1	Ssm	10	199	5%	cbioportal
8	BRAF	Ssm	9	199	4.5%	cbioportal
9	FGFR2	Ssm	8	199	4%	cbioportal
10	IDH2	Ssm	8	199	4%	cbioportal
11	PIK3CA	Ssm	8	199	4%	cbioportal
13	ATM	Ssm	7	199	3.5%	cbioportal
16	PTPRT	Ssm	7	199	3.5%	cbioportal
14	CDKN2A	Ssm	7	199	3.5%	cbioportal
12	ARID2	Ssm	7	199	3.5%	cbioportal
15	NRAS	Ssm	7	199	3.5%	cbioportal
61	PREX2	Ssm	3	89	3.4%	cbioportal
43	ELF3	Ssm	3	89	3.4%	cbioportal
68	SOS1	Ssm	3	89	3.4%	cbioportal
69	TP53BP1	Ssm	3	89	3.4%	cbioportal
19	PTEN	Ssm	6	199	3%	cbioportal
17	ATRX	Ssm	6	199	3%	cbioportal
18	KMT2D	Ssm	6	199	3%	cbioportal
20	TERT	Ssm	6	199	3%	cbioportal
21	DOT1L	Ssm	5	199	2.5%	cbioportal
23	RB1	Ssm	5	199	2.5%	cbioportal
24	SMARCA4	Ssm	5	199	2.5%	cbioportal
22	RARA	Ssm	5	199	2.5%	cbioportal
37	ZFHX3	Ssm	4	174	2.3%	cbioportal
105	MSH3	Ssm	2	89	2.2%	cbioportal

Data updated 22 days agoSource updated 2026-04-07

Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021) ihch_msk_2021MSK

412 cases with simple somatic mutation data · 412 cases total · 2026-01-07 · mapped to Intrahepatic Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	85	412	20.6%	cbioportal
2	ARID1A	Ssm	78	412	18.9%	cbioportal
3	BAP1	Ssm	72	412	17.5%	cbioportal
4	TP53	Ssm	70	412	17%	cbioportal
5	PBRM1	Ssm	44	412	10.7%	cbioportal
6	KRAS	Ssm	39	412	9.5%	cbioportal
7	BRAF	Ssm	26	412	6.3%	cbioportal
8	ATM	Ssm	20	412	4.9%	cbioportal
9	TERT	Ssm	20	412	4.9%	cbioportal
19	PREX2	Ssm	10	225	4.4%	cbioportal
10	FGFR2	Ssm	18	412	4.4%	cbioportal
11	IDH2	Ssm	18	412	4.4%	cbioportal
13	RASA1	Ssm	17	412	4.1%	cbioportal
12	PIK3CA	Ssm	17	412	4.1%	cbioportal
14	SMARCA4	Ssm	15	412	3.6%	cbioportal
15	ARID2	Ssm	14	412	3.4%	cbioportal
16	KMT2D	Ssm	13	412	3.2%	cbioportal
17	NRAS	Ssm	13	412	3.2%	cbioportal
18	KMT2C	Ssm	12	412	2.9%	cbioportal
21	ZFHX3	Ssm	10	372	2.7%	cbioportal
52	ELF3	Ssm	6	225	2.7%	cbioportal
20	PTEN	Ssm	10	412	2.4%	cbioportal
75	KMT2B	Ssm	5	225	2.2%	cbioportal
26	CDKN2A	Ssm	9	412	2.2%	cbioportal
22	ABL1	Ssm	9	412	2.2%	cbioportal
23	ARAF	Ssm	9	412	2.2%	cbioportal
24	ARID1B	Ssm	9	412	2.2%	cbioportal
25	ATRX	Ssm	9	412	2.2%	cbioportal
27	FAT1	Ssm	9	412	2.2%	cbioportal
28	NF1	Ssm	9	412	2.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Intrahepatic Cholangiocarcinoma (Shanghai, Nat Commun 2014) ihch_smmu_2014Shanghai

103 cases with simple somatic mutation data · 103 cases total · 2026-01-07 · mapped to Intrahepatic Cholangiocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	42	103	40.8%	cbioportal
2	HLA-A	Ssm	18	103	17.5%	cbioportal
3	KRAS	Ssm	17	103	16.5%	cbioportal
4	GAS8-AS1	Ssm	16	103	15.5%	cbioportal
5	TTN	Ssm	15	103	14.6%	cbioportal
7	HLA-C	Ssm	13	103	12.6%	cbioportal
6	FAM230A	Ssm	13	103	12.6%	cbioportal
8	MUC16	Ssm	13	103	12.6%	cbioportal
9	AHNAK2	Ssm	12	103	11.7%	cbioportal
10	MUC21	Ssm	11	103	10.7%	cbioportal
14	ODF1	Ssm	10	103	9.7%	cbioportal
13	MUC3A	Ssm	10	103	9.7%	cbioportal
12	MUC2	Ssm	10	103	9.7%	cbioportal
11	HLA-B	Ssm	10	103	9.7%	cbioportal
19	LILRA6	Ssm	9	103	8.7%	cbioportal
15	ARSD	Ssm	9	103	8.7%	cbioportal
16	CDC27	Ssm	9	103	8.7%	cbioportal
17	FAM135B	Ssm	9	103	8.7%	cbioportal
18	HMCN1	Ssm	9	103	8.7%	cbioportal
20	OBSCN	Ssm	9	103	8.7%	cbioportal
22	GGT2P	Ssm	8	103	7.8%	cbioportal
23	HRNR	Ssm	8	103	7.8%	cbioportal
24	MAGEC1	Ssm	8	103	7.8%	cbioportal
21	CEP89	Ssm	8	103	7.8%	cbioportal
25	PER3	Ssm	8	103	7.8%	cbioportal
27	ARID1A	Ssm	7	103	6.8%	cbioportal
30	EPPK1	Ssm	7	103	6.8%	cbioportal
29	DLC1	Ssm	7	103	6.8%	cbioportal
28	BPTF	Ssm	7	103	6.8%	cbioportal
26	ADAMTS7	Ssm	7	103	6.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Invasive Breast Carcinoma (TCGA GDC, 2025) brca_tcga_gdcTCGA GDC

971 cases with simple somatic mutation data · 1,102 cases total · 2026-01-13 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	334	971	34.4%	cbioportal
2	PIK3CA	Ssm	331	971	34.1%	cbioportal
3	TTN	Ssm	166	971	17.1%	cbioportal
4	CDH1	Ssm	130	971	13.4%	cbioportal
5	GATA3	Ssm	124	971	12.8%	cbioportal
6	MUC16	Ssm	98	971	10.1%	cbioportal
7	KMT2C	Ssm	86	971	8.9%	cbioportal
8	MAP3K1	Ssm	82	971	8.4%	cbioportal
9	HMCN1	Ssm	58	971	6%	cbioportal
10	FLG	Ssm	56	971	5.8%	cbioportal
11	RYR2	Ssm	56	971	5.8%	cbioportal
12	SYNE1	Ssm	53	971	5.5%	cbioportal
14	USH2A	Ssm	52	971	5.4%	cbioportal
13	PTEN	Ssm	52	971	5.4%	cbioportal
15	NCOR1	Ssm	49	971	5%	cbioportal
16	SPTA1	Ssm	47	971	4.8%	cbioportal
17	ZFHX4	Ssm	47	971	4.8%	cbioportal
18	DMD	Ssm	45	971	4.6%	cbioportal
19	MUC17	Ssm	43	971	4.4%	cbioportal
20	NEB	Ssm	42	971	4.3%	cbioportal
21	LRP2	Ssm	40	971	4.1%	cbioportal
22	FAT3	Ssm	39	971	4%	cbioportal
23	NF1	Ssm	39	971	4%	cbioportal
27	SYNE2	Ssm	38	971	3.9%	cbioportal
24	CSMD3	Ssm	38	971	3.9%	cbioportal
25	DST	Ssm	38	971	3.9%	cbioportal
26	MAP2K4	Ssm	38	971	3.9%	cbioportal
29	RYR3	Ssm	37	971	3.8%	cbioportal
28	RUNX1	Ssm	37	971	3.8%	cbioportal
30	APOB	Ssm	36	971	3.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Juvenile Papillomatosis and Breast Cancer (MSK,J Pathol. 2015) brca_jup_msk_2020MSK

5 cases with simple somatic mutation data · 5 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	4	5	80%	cbioportal
2	CES1	Ssm	3	5	60%	cbioportal
3	SMG1	Ssm	3	5	60%	cbioportal
4	AKAP12	Ssm	2	5	40%	cbioportal
17	NUTM2F	Ssm	2	5	40%	cbioportal
18	PIK3C2A	Ssm	2	5	40%	cbioportal
19	PIK3CB	Ssm	2	5	40%	cbioportal
20	PPP6R3	Ssm	2	5	40%	cbioportal
21	SLC24A4	Ssm	2	5	40%	cbioportal
22	TINAG	Ssm	2	5	40%	cbioportal
23	TLN1	Ssm	2	5	40%	cbioportal
5	ARID1A	Ssm	2	5	40%	cbioportal
6	CKAP2L	Ssm	2	5	40%	cbioportal
24	VPS41	Ssm	2	5	40%	cbioportal
7	CLEC12B	Ssm	2	5	40%	cbioportal
8	CTSW	Ssm	2	5	40%	cbioportal
9	ENOX1	Ssm	2	5	40%	cbioportal
10	FAM83G	Ssm	2	5	40%	cbioportal
11	KEAP1	Ssm	2	5	40%	cbioportal
12	KLF2	Ssm	2	5	40%	cbioportal
13	KMT2C	Ssm	2	5	40%	cbioportal
14	MARCHF11	Ssm	2	5	40%	cbioportal
15	MED13	Ssm	2	5	40%	cbioportal
16	NUP93	Ssm	2	5	40%	cbioportal
25	ACIN1	Ssm	1	5	20%	cbioportal
28	BTBD17	Ssm	1	5	20%	cbioportal
27	BRWD1	Ssm	1	5	20%	cbioportal
29	CD33	Ssm	1	5	20%	cbioportal
33	CRACDL	Ssm	1	5	20%	cbioportal
26	ANKS1A	Ssm	1	5	20%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Kidney Chromophobe TCGA-KICHTCGA

86 cases with simple somatic mutation data · 113 cases total · Data Release 46.0 · mapped to Chromophobe Renal Cell Carcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GPRIN2	Ssm	61	86	70.9%	gdc
4	NBPF1	Ssm	59	86	68.6%	gdc
7	GABRD	Ssm	59	86	68.6%	gdc
6	ACAP3	Ssm	59	86	68.6%	gdc
5	TP53	Ssm	59	86	68.6%	gdc
3	SYT15	Ssm	59	86	68.6%	gdc
2	SCNN1D	Ssm	59	86	68.6%	gdc
10	ANXA8L1	Ssm	59	86	68.6%	gdc
9	CROCC	Ssm	59	86	68.6%	gdc
8	FAM131C	Ssm	59	86	68.6%	gdc
30	NECAP2	Ssm	58	86	67.4%	gdc
12	UBE2J2	Ssm	58	86	67.4%	gdc
16	PUSL1	Ssm	58	86	67.4%	gdc
15	SSU72	Ssm	58	86	67.4%	gdc
14	TTC34	Ssm	58	86	67.4%	gdc
13	CDK11A	Ssm	58	86	67.4%	gdc
11	INTS11	Ssm	58	86	67.4%	gdc
29	ATAD3C	Ssm	58	86	67.4%	gdc
28	MMP23B	Ssm	58	86	67.4%	gdc
27	DFFA	Ssm	58	86	67.4%	gdc
26	GNB1	Ssm	58	86	67.4%	gdc
25	TAS1R1	Ssm	58	86	67.4%	gdc
24	NADK	Ssm	58	86	67.4%	gdc
23	ATAD3A	Ssm	58	86	67.4%	gdc
22	TMEM52	Ssm	58	86	67.4%	gdc
21	MIB2	Ssm	58	86	67.4%	gdc
20	DUSP22	Ssm	58	86	67.4%	gdc
19	TMEM240	Ssm	58	86	67.4%	gdc
18	MRPL20	Ssm	58	86	67.4%	gdc
17	KCNAB2	Ssm	58	86	67.4%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Kidney Chromophobe (TCGA, Cancer Cell 2014) kich_tcga_pubTCGA

65 cases with simple somatic mutation data · 66 cases total · 2026-01-07 · mapped to Chromophobe Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	20	65	30.8%	cbioportal
2	PTEN	Ssm	6	65	9.2%	cbioportal
3	CRACD	Ssm	3	65	4.6%	cbioportal
4	ICE1	Ssm	3	65	4.6%	cbioportal
5	TTN	Ssm	3	65	4.6%	cbioportal
17	CDC27	Ssm	2	65	3.1%	cbioportal
19	CLCN2	Ssm	2	65	3.1%	cbioportal
20	CSF2RB	Ssm	2	65	3.1%	cbioportal
21	CSMD1	Ssm	2	65	3.1%	cbioportal
22	DDX50	Ssm	2	65	3.1%	cbioportal
23	DIDO1	Ssm	2	65	3.1%	cbioportal
24	DSCAM	Ssm	2	65	3.1%	cbioportal
25	DSPP	Ssm	2	65	3.1%	cbioportal
26	DYNC2H1	Ssm	2	65	3.1%	cbioportal
27	ELAPOR1	Ssm	2	65	3.1%	cbioportal
28	ENTREP3	Ssm	2	65	3.1%	cbioportal
29	ESPL1	Ssm	2	65	3.1%	cbioportal
30	FLT4	Ssm	2	65	3.1%	cbioportal
6	ADAMTS7	Ssm	2	65	3.1%	cbioportal
7	AFF3	Ssm	2	65	3.1%	cbioportal
8	AICDA	Ssm	2	65	3.1%	cbioportal
9	ARHGEF2	Ssm	2	65	3.1%	cbioportal
10	ATM	Ssm	2	65	3.1%	cbioportal
11	BAIAP2L2	Ssm	2	65	3.1%	cbioportal
12	BLTP1	Ssm	2	65	3.1%	cbioportal
13	C3ORF20	Ssm	2	65	3.1%	cbioportal
14	CACNA1A	Ssm	2	65	3.1%	cbioportal
15	CACNA1B	Ssm	2	65	3.1%	cbioportal
16	CASP5	Ssm	2	65	3.1%	cbioportal
18	CDKN1A	Ssm	2	65	3.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Kidney Chromophobe (TCGA, Firehose Legacy) kich_tcgaTCGA

66 cases with simple somatic mutation data · 113 cases total · 2026-01-07 · mapped to Chromophobe Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC4	Ssm	46	66	69.7%	cbioportal
2	FRG1BP	Ssm	33	66	50%	cbioportal
3	MUC6	Ssm	22	66	33.3%	cbioportal
4	TP53	Ssm	22	66	33.3%	cbioportal
6	MUC2	Ssm	15	66	22.7%	cbioportal
5	MUC16	Ssm	15	66	22.7%	cbioportal
7	FRG1	Ssm	14	66	21.2%	cbioportal
9	NBPF10	Ssm	12	66	18.2%	cbioportal
8	MUC5B	Ssm	12	66	18.2%	cbioportal
10	CDC27	Ssm	11	66	16.7%	cbioportal
11	AHNAK2	Ssm	10	66	15.2%	cbioportal
12	KMT2C	Ssm	10	66	15.2%	cbioportal
15	PABPC3	Ssm	8	66	12.1%	cbioportal
13	DSPP	Ssm	8	66	12.1%	cbioportal
14	PABPC1	Ssm	8	66	12.1%	cbioportal
16	HLA-C	Ssm	7	66	10.6%	cbioportal
20	MUC17	Ssm	6	66	9.1%	cbioportal
18	GOLGA6L6	Ssm	6	66	9.1%	cbioportal
17	DDX11	Ssm	6	66	9.1%	cbioportal
19	HLA-A	Ssm	6	66	9.1%	cbioportal
21	MUC21	Ssm	6	66	9.1%	cbioportal
22	PCDHA8	Ssm	6	66	9.1%	cbioportal
23	PRB2	Ssm	6	66	9.1%	cbioportal
24	PRSS3	Ssm	6	66	9.1%	cbioportal
25	PTEN	Ssm	6	66	9.1%	cbioportal
26	RBMXL1	Ssm	6	66	9.1%	cbioportal
27	SLC35G5	Ssm	6	66	9.1%	cbioportal
28	TAS2R43	Ssm	6	66	9.1%	cbioportal
29	ZNF469	Ssm	6	66	9.1%	cbioportal
30	ADAMTS7	Ssm	5	66	7.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Kidney Chromophobe (TCGA, PanCancer Atlas) kich_tcga_pan_can_atlas_2018TCGA

65 cases with simple somatic mutation data · 65 cases total · 2026-06-23 · mapped to Chromophobe Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	21	65	32.3%	cbioportal
2	PTEN	Ssm	6	65	9.2%	cbioportal
3	ZAN	Ssm	5	65	7.7%	cbioportal
5	TTN	Ssm	4	65	6.2%	cbioportal
4	HERC2	Ssm	4	65	6.2%	cbioportal
13	ICE1	Ssm	3	65	4.6%	cbioportal
12	FLT4	Ssm	3	65	4.6%	cbioportal
11	FAT4	Ssm	3	65	4.6%	cbioportal
10	DNAH1	Ssm	3	65	4.6%	cbioportal
9	CSF2RB	Ssm	3	65	4.6%	cbioportal
7	BIRC6	Ssm	3	65	4.6%	cbioportal
8	CFAP47	Ssm	3	65	4.6%	cbioportal
6	ATG2A	Ssm	3	65	4.6%	cbioportal
17	ZFHX4	Ssm	3	65	4.6%	cbioportal
16	PCLO	Ssm	3	65	4.6%	cbioportal
15	MUC16	Ssm	3	65	4.6%	cbioportal
14	KALRN	Ssm	3	65	4.6%	cbioportal
21	ADGRB1	Ssm	2	65	3.1%	cbioportal
18	ABCE1	Ssm	2	65	3.1%	cbioportal
19	ACAP3	Ssm	2	65	3.1%	cbioportal
20	ADAMTSL1	Ssm	2	65	3.1%	cbioportal
22	AFF3	Ssm	2	65	3.1%	cbioportal
23	AGBL1	Ssm	2	65	3.1%	cbioportal
24	AGRN	Ssm	2	65	3.1%	cbioportal
25	AICDA	Ssm	2	65	3.1%	cbioportal
26	AMPD2	Ssm	2	65	3.1%	cbioportal
27	ANKHD1	Ssm	2	65	3.1%	cbioportal
28	ANKRD17	Ssm	2	65	3.1%	cbioportal
29	ARFGAP3	Ssm	2	65	3.1%	cbioportal
30	ARHGEF18	Ssm	2	65	3.1%	cbioportal

Data updated 22 days agoSource updated 2026-06-23

Kidney Renal Clear Cell Carcinoma TCGA-KIRCTCGA

536 cases with simple somatic mutation data · 537 cases total · Data Release 46.0 · mapped to Clear Cell Renal Cell Carcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	463	536	86.4%	gdc
2	PBRM1	Ssm	456	536	85.1%	gdc
3	BAP1	Ssm	451	536	84.1%	gdc
5	COL7A1	Ssm	450	536	84%	gdc
6	GLB1	Ssm	450	536	84%	gdc
4	PLXNB1	Ssm	450	536	84%	gdc
7	TREX1	Ssm	449	536	83.8%	gdc
26	IP6K2	Ssm	449	536	83.8%	gdc
25	TMA7	Ssm	449	536	83.8%	gdc
24	ATRIP	Ssm	449	536	83.8%	gdc
23	VIPR1	Ssm	449	536	83.8%	gdc
22	HHATL	Ssm	449	536	83.8%	gdc
21	NCKIPSD	Ssm	449	536	83.8%	gdc
20	SCN5A	Ssm	449	536	83.8%	gdc
19	FBXW12	Ssm	449	536	83.8%	gdc
18	PFKFB4	Ssm	449	536	83.8%	gdc
17	CCDC51	Ssm	449	536	83.8%	gdc
16	SHISA5	Ssm	449	536	83.8%	gdc
15	UCN2	Ssm	449	536	83.8%	gdc
14	SETD2	Ssm	449	536	83.8%	gdc
13	SLC26A6	Ssm	449	536	83.8%	gdc
27	TMEM89	Ssm	449	536	83.8%	gdc
12	PTH1R	Ssm	449	536	83.8%	gdc
11	UQCRC1	Ssm	449	536	83.8%	gdc
10	PRKAR2A	Ssm	449	536	83.8%	gdc
9	CELSR3	Ssm	449	536	83.8%	gdc
8	CDC25A	Ssm	449	536	83.8%	gdc
97	USP4	Ssm	448	536	83.6%	gdc
95	GNAI2	Ssm	448	536	83.6%	gdc
96	QRICH1	Ssm	448	536	83.6%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Kidney Renal Clear Cell Carcinoma (BGI, Nat Genet 2012) kirc_bgiBGI

98 cases with simple somatic mutation data · 98 cases total · 2026-01-07 · mapped to Clear Cell Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	25	98	25.5%	cbioportal
2	KDM5C	Ssm	9	98	9.2%	cbioportal
3	BAP1	Ssm	7	98	7.1%	cbioportal
4	LRP1B	Ssm	7	98	7.1%	cbioportal
5	SYNE2	Ssm	7	98	7.1%	cbioportal
6	TP53	Ssm	6	98	6.1%	cbioportal
10	RYR1	Ssm	5	98	5.1%	cbioportal
7	AHNAK	Ssm	5	98	5.1%	cbioportal
8	AKAP13	Ssm	5	98	5.1%	cbioportal
9	CSMD3	Ssm	5	98	5.1%	cbioportal
11	SPTBN4	Ssm	5	98	5.1%	cbioportal
13	FAM111B	Ssm	4	98	4.1%	cbioportal
14	NAV3	Ssm	4	98	4.1%	cbioportal
15	SETD2	Ssm	4	98	4.1%	cbioportal
16	ZNF804A	Ssm	4	98	4.1%	cbioportal
12	CARD11	Ssm	4	98	4.1%	cbioportal
17	ATRNL1	Ssm	3	98	3.1%	cbioportal
18	CUL7	Ssm	3	98	3.1%	cbioportal
19	FMN2	Ssm	3	98	3.1%	cbioportal
20	KMT2C	Ssm	3	98	3.1%	cbioportal
21	LRRK2	Ssm	3	98	3.1%	cbioportal
22	MTOR	Ssm	3	98	3.1%	cbioportal
23	PZP	Ssm	3	98	3.1%	cbioportal
24	SHANK1	Ssm	3	98	3.1%	cbioportal
25	TSC1	Ssm	3	98	3.1%	cbioportal
30	BTRC	Ssm	2	98	2%	cbioportal
26	ADCY9	Ssm	2	98	2%	cbioportal
27	AFDN	Ssm	2	98	2%	cbioportal
28	AGXT	Ssm	2	98	2%	cbioportal
29	APC	Ssm	2	98	2%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Kidney Renal Clear Cell Carcinoma (IRC, Nat Genet 2014) ccrcc_irc_2014IRC

78 cases with simple somatic mutation data · 79 cases total · 2026-01-05 · mapped to Clear Cell Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	62	78	79.5%	cbioportal
2	PBRM1	Ssm	29	78	37.2%	cbioportal
3	SETD2	Ssm	21	78	26.9%	cbioportal
4	BAP1	Ssm	19	78	24.4%	cbioportal
5	DOP1A	Ssm	17	78	21.8%	cbioportal
6	UGT2A1	Ssm	15	78	19.2%	cbioportal
7	DAPK1	Ssm	13	78	16.7%	cbioportal
10	MYH8	Ssm	12	78	15.4%	cbioportal
8	ANO5	Ssm	12	78	15.4%	cbioportal
9	CENPF	Ssm	12	78	15.4%	cbioportal
18	UNC80	Ssm	11	78	14.1%	cbioportal
16	OR2A14	Ssm	11	78	14.1%	cbioportal
15	MUC16	Ssm	11	78	14.1%	cbioportal
14	ITGB3	Ssm	11	78	14.1%	cbioportal
13	GLTPD2	Ssm	11	78	14.1%	cbioportal
12	EDC4	Ssm	11	78	14.1%	cbioportal
11	DUSP19	Ssm	11	78	14.1%	cbioportal
17	PPP6R1	Ssm	11	78	14.1%	cbioportal
29	FCAMR	Ssm	10	78	12.8%	cbioportal
30	GARRE1	Ssm	10	78	12.8%	cbioportal
19	ATP11B	Ssm	10	78	12.8%	cbioportal
20	ATXN1	Ssm	10	78	12.8%	cbioportal
21	BCAS2	Ssm	10	78	12.8%	cbioportal
22	C11ORF68	Ssm	10	78	12.8%	cbioportal
23	CCR6	Ssm	10	78	12.8%	cbioportal
24	CLCN2	Ssm	10	78	12.8%	cbioportal
25	CYP4F3	Ssm	10	78	12.8%	cbioportal
26	DDX52	Ssm	10	78	12.8%	cbioportal
27	EIF4G2	Ssm	10	78	12.8%	cbioportal
28	EXT1	Ssm	10	78	12.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Kidney Renal Clear Cell Carcinoma (TCGA, Firehose Legacy) kirc_tcgaTCGA

451 cases with simple somatic mutation data · 538 cases total · 2026-01-07 · mapped to Clear Cell Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	225	451	49.9%	cbioportal
2	PBRM1	Ssm	133	451	29.5%	cbioportal
3	MUC4	Ssm	77	451	17.1%	cbioportal
4	TTN	Ssm	71	451	15.7%	cbioportal
5	MUC16	Ssm	58	451	12.9%	cbioportal
6	SETD2	Ssm	51	451	11.3%	cbioportal
7	BAP1	Ssm	40	451	8.9%	cbioportal
8	MTOR	Ssm	32	451	7.1%	cbioportal
9	FBN2	Ssm	30	451	6.7%	cbioportal
10	XIRP2	Ssm	28	451	6.2%	cbioportal
12	KDM5C	Ssm	27	451	6%	cbioportal
11	DNAH3	Ssm	27	451	6%	cbioportal
13	HMCN1	Ssm	26	451	5.8%	cbioportal
15	ARID1A	Ssm	25	451	5.5%	cbioportal
16	TSHZ3	Ssm	25	451	5.5%	cbioportal
14	ARAP3	Ssm	25	451	5.5%	cbioportal
17	SSH2	Ssm	24	451	5.3%	cbioportal
19	NAV3	Ssm	23	451	5.1%	cbioportal
21	VWF	Ssm	23	451	5.1%	cbioportal
18	AKAP9	Ssm	23	451	5.1%	cbioportal
20	SPEN	Ssm	23	451	5.1%	cbioportal
23	CD4	Ssm	22	451	4.9%	cbioportal
22	ABCA1	Ssm	22	451	4.9%	cbioportal
24	GRIN2B	Ssm	22	451	4.9%	cbioportal
25	MAP1B	Ssm	22	451	4.9%	cbioportal
26	PDZD2	Ssm	22	451	4.9%	cbioportal
27	ABCA6	Ssm	21	451	4.7%	cbioportal
28	DCHS1	Ssm	21	451	4.7%	cbioportal
29	DDB1	Ssm	21	451	4.7%	cbioportal
30	DNMT1	Ssm	21	451	4.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Kidney Renal Clear Cell Carcinoma (TCGA, Nature 2013) kirc_tcga_pubTCGA

426 cases with simple somatic mutation data · 446 cases total · 2026-02-19 · mapped to Clear Cell Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	218	426	51.2%	cbioportal
2	PBRM1	Ssm	145	426	34%	cbioportal
3	MUC4	Ssm	90	426	21.1%	cbioportal
4	TTN	Ssm	63	426	14.8%	cbioportal
5	SETD2	Ssm	55	426	12.9%	cbioportal
6	BAP1	Ssm	42	426	9.9%	cbioportal
7	MUC16	Ssm	34	426	8%	cbioportal
8	KDM5C	Ssm	29	426	6.8%	cbioportal
9	MTOR	Ssm	23	426	5.4%	cbioportal
10	PABPC1	Ssm	19	426	4.5%	cbioportal
11	HMCN1	Ssm	18	426	4.2%	cbioportal
15	USH2A	Ssm	17	426	4%	cbioportal
13	KMT2C	Ssm	17	426	4%	cbioportal
12	AHNAK2	Ssm	17	426	4%	cbioportal
14	PTEN	Ssm	17	426	4%	cbioportal
17	MAGEC1	Ssm	16	426	3.8%	cbioportal
16	MACF1	Ssm	16	426	3.8%	cbioportal
22	SYNE1	Ssm	15	426	3.5%	cbioportal
21	PCLO	Ssm	15	426	3.5%	cbioportal
20	LRP1B	Ssm	15	426	3.5%	cbioportal
19	DNAH9	Ssm	15	426	3.5%	cbioportal
18	ADGRV1	Ssm	15	426	3.5%	cbioportal
23	ARID1A	Ssm	14	426	3.3%	cbioportal
24	ATM	Ssm	14	426	3.3%	cbioportal
25	DST	Ssm	14	426	3.3%	cbioportal
26	KMT2D	Ssm	14	426	3.3%	cbioportal
30	MUC2	Ssm	13	426	3.1%	cbioportal
29	MUC17	Ssm	13	426	3.1%	cbioportal
28	FMN2	Ssm	13	426	3.1%	cbioportal
27	FBN2	Ssm	13	426	3.1%	cbioportal

Data updated 22 days agoSource updated 2026-02-19

Kidney Renal Clear Cell Carcinoma (TCGA, PanCancer Atlas) kirc_tcga_pan_can_atlas_2018TCGA

402 cases with simple somatic mutation data · 512 cases total · 2026-06-05 · mapped to Clear Cell Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	166	402	41.3%	cbioportal
2	PBRM1	Ssm	145	402	36.1%	cbioportal
3	TTN	Ssm	69	402	17.2%	cbioportal
4	SETD2	Ssm	49	402	12.2%	cbioportal
5	BAP1	Ssm	38	402	9.5%	cbioportal
6	MTOR	Ssm	31	402	7.7%	cbioportal
7	MUC16	Ssm	30	402	7.5%	cbioportal
8	KDM5C	Ssm	20	402	5%	cbioportal
9	DNAH9	Ssm	18	402	4.5%	cbioportal
11	HMCN1	Ssm	17	402	4.2%	cbioportal
10	CSMD3	Ssm	17	402	4.2%	cbioportal
12	FBN2	Ssm	16	402	4%	cbioportal
13	KMT2C	Ssm	15	402	3.7%	cbioportal
14	LRP2	Ssm	15	402	3.7%	cbioportal
15	MACF1	Ssm	15	402	3.7%	cbioportal
16	PCLO	Ssm	15	402	3.7%	cbioportal
17	XIRP2	Ssm	15	402	3.7%	cbioportal
22	SPEN	Ssm	14	402	3.5%	cbioportal
21	FLG	Ssm	14	402	3.5%	cbioportal
20	DST	Ssm	14	402	3.5%	cbioportal
19	ARID1A	Ssm	14	402	3.5%	cbioportal
18	AHNAK2	Ssm	14	402	3.5%	cbioportal
24	ATM	Ssm	13	402	3.2%	cbioportal
23	ABCA13	Ssm	13	402	3.2%	cbioportal
25	DNAH2	Ssm	13	402	3.2%	cbioportal
26	LRP1B	Ssm	13	402	3.2%	cbioportal
27	MUC17	Ssm	13	402	3.2%	cbioportal
28	NEB	Ssm	13	402	3.2%	cbioportal
29	PKHD1L1	Ssm	13	402	3.2%	cbioportal
30	USH2A	Ssm	13	402	3.2%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Kidney Renal Papillary Cell Carcinoma TCGA-KIRPTCGA

291 cases with simple somatic mutation data · 291 cases total · Data Release 46.0 · mapped to Papillary Renal Cell Carcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	MRC2	Ssm	187	291	64.3%	gdc
3	MED13	Ssm	187	291	64.3%	gdc
4	RNF213	Ssm	187	291	64.3%	gdc
1	HELZ	Ssm	187	291	64.3%	gdc
6	TEX2	Ssm	186	291	63.9%	gdc
7	ACE	Ssm	186	291	63.9%	gdc
5	CCDC57	Ssm	186	291	63.9%	gdc
8	CLTC	Ssm	186	291	63.9%	gdc
9	UBE2O	Ssm	186	291	63.9%	gdc
10	KCNH6	Ssm	186	291	63.9%	gdc
11	BPTF	Ssm	186	291	63.9%	gdc
12	USP32	Ssm	186	291	63.9%	gdc
25	AC127029.3	Ssm	185	291	63.6%	gdc
13	EFCAB3	Ssm	185	291	63.6%	gdc
14	LRRC37A3	Ssm	185	291	63.6%	gdc
15	QRICH2	Ssm	185	291	63.6%	gdc
16	POLG2	Ssm	185	291	63.6%	gdc
17	TBCD	Ssm	185	291	63.6%	gdc
18	RNF157	Ssm	185	291	63.6%	gdc
19	GNA13	Ssm	185	291	63.6%	gdc
20	UNC13D	Ssm	185	291	63.6%	gdc
21	TNRC6C	Ssm	185	291	63.6%	gdc
22	KIF19	Ssm	185	291	63.6%	gdc
23	KCNJ16	Ssm	185	291	63.6%	gdc
24	NPTX1	Ssm	185	291	63.6%	gdc
26	NOL11	Ssm	185	291	63.6%	gdc
27	TMC6	Ssm	185	291	63.6%	gdc
28	DCAF7	Ssm	185	291	63.6%	gdc
29	PPM1D	Ssm	185	291	63.6%	gdc
30	TBX4	Ssm	185	291	63.6%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Kidney Renal Papillary Cell Carcinoma (TCGA, Firehose Legacy) kirp_tcgaTCGA

282 cases with simple somatic mutation data · 293 cases total · 2026-01-07 · mapped to Papillary Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	35	282	12.4%	cbioportal
2	MUC16	Ssm	24	282	8.5%	cbioportal
3	MET	Ssm	21	282	7.4%	cbioportal
4	KMT2C	Ssm	18	282	6.4%	cbioportal
6	KIF1A	Ssm	16	282	5.7%	cbioportal
7	SETD2	Ssm	16	282	5.7%	cbioportal
5	BLTP1	Ssm	16	282	5.7%	cbioportal
8	MUC4	Ssm	15	282	5.3%	cbioportal
10	KMT2D	Ssm	14	282	5%	cbioportal
9	BAP1	Ssm	14	282	5%	cbioportal
13	PKHD1	Ssm	13	282	4.6%	cbioportal
12	OBSCN	Ssm	13	282	4.6%	cbioportal
11	AR	Ssm	13	282	4.6%	cbioportal
14	CUBN	Ssm	12	282	4.3%	cbioportal
19	WDFY3	Ssm	12	282	4.3%	cbioportal
18	PCLO	Ssm	12	282	4.3%	cbioportal
17	NEFH	Ssm	12	282	4.3%	cbioportal
16	FAT1	Ssm	12	282	4.3%	cbioportal
15	DNAH8	Ssm	12	282	4.3%	cbioportal
23	PCF11	Ssm	11	282	3.9%	cbioportal
22	PBRM1	Ssm	11	282	3.9%	cbioportal
21	MUC2	Ssm	11	282	3.9%	cbioportal
20	LRP2	Ssm	11	282	3.9%	cbioportal
24	SYNE1	Ssm	11	282	3.9%	cbioportal
29	SMARCA4	Ssm	10	282	3.5%	cbioportal
25	CUL3	Ssm	10	282	3.5%	cbioportal
26	HELZ2	Ssm	10	282	3.5%	cbioportal
27	KDM6A	Ssm	10	282	3.5%	cbioportal
28	NF2	Ssm	10	282	3.5%	cbioportal
30	ADGRV1	Ssm	9	282	3.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Kidney Renal Papillary Cell Carcinoma (TCGA, PanCancer Atlas) kirp_tcga_pan_can_atlas_2018TCGA

276 cases with simple somatic mutation data · 283 cases total · 2026-06-05 · mapped to Papillary Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	51	276	18.5%	cbioportal
2	MUC16	Ssm	27	276	9.8%	cbioportal
3	MET	Ssm	22	276	8%	cbioportal
5	KMT2C	Ssm	19	276	6.9%	cbioportal
4	BLTP1	Ssm	19	276	6.9%	cbioportal
8	PKHD1	Ssm	18	276	6.5%	cbioportal
6	KMT2D	Ssm	18	276	6.5%	cbioportal
7	OBSCN	Ssm	18	276	6.5%	cbioportal
9	MACF1	Ssm	17	276	6.2%	cbioportal
10	SETD2	Ssm	17	276	6.2%	cbioportal
11	FAT1	Ssm	16	276	5.8%	cbioportal
12	USH2A	Ssm	15	276	5.4%	cbioportal
14	DNAH8	Ssm	14	276	5.1%	cbioportal
15	WDFY3	Ssm	14	276	5.1%	cbioportal
13	BAP1	Ssm	14	276	5.1%	cbioportal
22	UBR4	Ssm	13	276	4.7%	cbioportal
20	SRRM2	Ssm	13	276	4.7%	cbioportal
19	HUWE1	Ssm	13	276	4.7%	cbioportal
18	HERC2	Ssm	13	276	4.7%	cbioportal
17	DNAH1	Ssm	13	276	4.7%	cbioportal
16	CUBN	Ssm	13	276	4.7%	cbioportal
21	SYNE1	Ssm	13	276	4.7%	cbioportal
27	MDN1	Ssm	12	276	4.3%	cbioportal
30	SYNE2	Ssm	12	276	4.3%	cbioportal
29	PBRM1	Ssm	12	276	4.3%	cbioportal
23	ARID1A	Ssm	12	276	4.3%	cbioportal
24	BIRC6	Ssm	12	276	4.3%	cbioportal
25	CENPF	Ssm	12	276	4.3%	cbioportal
26	DST	Ssm	12	276	4.3%	cbioportal
28	NEB	Ssm	12	276	4.3%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Liposarcoma (MSK, 2026) lipo_msk_2026MSK

277 cases with simple somatic mutation data · 277 cases total · 2026-08-21 · mapped to Liposarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CRIPAK	Ssm	27	277	9.7%	cbioportal
2	ZFHX3	Ssm	20	277	7.2%	cbioportal
3	MDN1	Ssm	19	277	6.9%	cbioportal
5	NUP107	Ssm	17	277	6.1%	cbioportal
4	ATRX	Ssm	17	277	6.1%	cbioportal
6	NAV3	Ssm	15	277	5.4%	cbioportal
7	NOTCH3	Ssm	14	277	5.1%	cbioportal
8	WDR87	Ssm	14	277	5.1%	cbioportal
11	LAMA5	Ssm	12	277	4.3%	cbioportal
10	FRS2	Ssm	12	277	4.3%	cbioportal
9	FLG2	Ssm	12	277	4.3%	cbioportal
13	CSMD1	Ssm	11	277	4%	cbioportal
14	RNF213	Ssm	11	277	4%	cbioportal
12	ADGRG4	Ssm	11	277	4%	cbioportal
19	PCNT	Ssm	10	277	3.6%	cbioportal
18	NUP98	Ssm	10	277	3.6%	cbioportal
17	METTL1	Ssm	10	277	3.6%	cbioportal
16	FRAS1	Ssm	10	277	3.6%	cbioportal
15	DNAH1	Ssm	10	277	3.6%	cbioportal
20	PRRC2A	Ssm	10	277	3.6%	cbioportal
22	MEGF6	Ssm	9	277	3.2%	cbioportal
25	TSC2	Ssm	9	277	3.2%	cbioportal
24	SPEG	Ssm	9	277	3.2%	cbioportal
23	MGA	Ssm	9	277	3.2%	cbioportal
21	DOCK4	Ssm	9	277	3.2%	cbioportal
26	ERBB4	Ssm	8	277	2.9%	cbioportal
28	MALRD1	Ssm	8	277	2.9%	cbioportal
27	LMNB2	Ssm	8	277	2.9%	cbioportal
29	AKAP11	Ssm	7	277	2.5%	cbioportal
30	FLNA	Ssm	7	277	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-08-21

Liver Hepatocellular Adenoma and Carcinomas (MSK, PLOS One 2018) hcc_msk_venturaa_2018MSK

19 cases with simple somatic mutation data · 19 cases total · 2026-01-07 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	7	19	36.8%	cbioportal
4	TP53	Ssm	3	19	15.8%	cbioportal
2	CTNNB1	Ssm	3	19	15.8%	cbioportal
3	HNF1A	Ssm	3	19	15.8%	cbioportal
5	APC	Ssm	2	19	10.5%	cbioportal
6	PIK3CA	Ssm	2	19	10.5%	cbioportal
33	NSD1	Ssm	1	19	5.3%	cbioportal
44	TET2	Ssm	1	19	5.3%	cbioportal
26	KDM6A	Ssm	1	19	5.3%	cbioportal
24	GNAS	Ssm	1	19	5.3%	cbioportal
23	FAT1	Ssm	1	19	5.3%	cbioportal
22	ERG	Ssm	1	19	5.3%	cbioportal
21	EP300	Ssm	1	19	5.3%	cbioportal
39	RB1	Ssm	1	19	5.3%	cbioportal
38	PTPRT	Ssm	1	19	5.3%	cbioportal
37	PIK3CG	Ssm	1	19	5.3%	cbioportal
36	PHOX2B	Ssm	1	19	5.3%	cbioportal
35	PAX5	Ssm	1	19	5.3%	cbioportal
34	PAK5	Ssm	1	19	5.3%	cbioportal
32	NOTCH3	Ssm	1	19	5.3%	cbioportal
31	MSH6	Ssm	1	19	5.3%	cbioportal
30	LATS1	Ssm	1	19	5.3%	cbioportal
29	KMT2D	Ssm	1	19	5.3%	cbioportal
28	KMT2C	Ssm	1	19	5.3%	cbioportal
27	KEAP1	Ssm	1	19	5.3%	cbioportal
25	HGF	Ssm	1	19	5.3%	cbioportal
43	SUFU	Ssm	1	19	5.3%	cbioportal
42	SF3B1	Ssm	1	19	5.3%	cbioportal
41	SETD2	Ssm	1	19	5.3%	cbioportal
40	RBM10	Ssm	1	19	5.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Liver Hepatocellular Carcinoma TCGA-LIHCTCGA

377 cases with simple somatic mutation data · 377 cases total · Data Release 46.0 · mapped to Hepatocellular Carcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ASH1L	Ssm	279	377	74%	gdc
2	RUSC1	Ssm	277	377	73.5%	gdc
4	THBS3	Ssm	276	377	73.2%	gdc
7	FAM189B	Ssm	276	377	73.2%	gdc
6	PKLR	Ssm	276	377	73.2%	gdc
3	EFNA3	Ssm	276	377	73.2%	gdc
5	SLC50A1	Ssm	276	377	73.2%	gdc
12	ADAM15	Ssm	275	377	72.9%	gdc
18	FDPS	Ssm	275	377	72.9%	gdc
17	MTX1	Ssm	275	377	72.9%	gdc
16	ZBTB7B	Ssm	275	377	72.9%	gdc
15	EFNA1	Ssm	275	377	72.9%	gdc
14	DCST2	Ssm	275	377	72.9%	gdc
13	INSRR	Ssm	275	377	72.9%	gdc
11	TRIM46	Ssm	275	377	72.9%	gdc
10	CLK2	Ssm	275	377	72.9%	gdc
9	SCAMP3	Ssm	275	377	72.9%	gdc
8	AL691442.1	Ssm	275	377	72.9%	gdc
19	EFNA4	Ssm	274	377	72.7%	gdc
25	GBA	Ssm	274	377	72.7%	gdc
24	LENEP	Ssm	274	377	72.7%	gdc
23	DCST1	Ssm	274	377	72.7%	gdc
22	MUC1	Ssm	274	377	72.7%	gdc
21	AL713999.2	Ssm	274	377	72.7%	gdc
20	KHDC4	Ssm	274	377	72.7%	gdc
29	ARHGEF2	Ssm	274	377	72.7%	gdc
30	YY1AP1	Ssm	274	377	72.7%	gdc
28	KRTCAP2	Ssm	274	377	72.7%	gdc
27	DPM3	Ssm	274	377	72.7%	gdc
26	HCN3	Ssm	274	377	72.7%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Liver Hepatocellular Carcinoma (AMC, Hepatology 2014) lihc_amc_prvAMC

231 cases with simple somatic mutation data · 231 cases total · 2026-01-07 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	71	231	30.7%	cbioportal
2	CTNNB1	Ssm	52	231	22.5%	cbioportal
3	TTN	Ssm	52	231	22.5%	cbioportal
4	MUC16	Ssm	40	231	17.3%	cbioportal
5	HMCN1	Ssm	26	231	11.3%	cbioportal
6	PCLO	Ssm	26	231	11.3%	cbioportal
7	ADGRV1	Ssm	25	231	10.8%	cbioportal
8	HYDIN	Ssm	21	231	9.1%	cbioportal
9	LRP1B	Ssm	19	231	8.2%	cbioportal
10	SYNE1	Ssm	19	231	8.2%	cbioportal
11	APOB	Ssm	18	231	7.8%	cbioportal
15	RYR3	Ssm	18	231	7.8%	cbioportal
16	VCAN	Ssm	18	231	7.8%	cbioportal
13	MUC4	Ssm	18	231	7.8%	cbioportal
14	RYR2	Ssm	18	231	7.8%	cbioportal
12	DNAH5	Ssm	18	231	7.8%	cbioportal
17	FBN2	Ssm	17	231	7.4%	cbioportal
18	PKHD1L1	Ssm	16	231	6.9%	cbioportal
21	FLG	Ssm	15	231	6.5%	cbioportal
19	ABCA13	Ssm	15	231	6.5%	cbioportal
20	CSMD3	Ssm	15	231	6.5%	cbioportal
23	XIRP2	Ssm	15	231	6.5%	cbioportal
22	LIAT1	Ssm	15	231	6.5%	cbioportal
26	MDN1	Ssm	14	231	6.1%	cbioportal
27	OBSCN	Ssm	14	231	6.1%	cbioportal
24	AXIN1	Ssm	14	231	6.1%	cbioportal
25	BLTP1	Ssm	14	231	6.1%	cbioportal
30	COL6A6	Ssm	13	231	5.6%	cbioportal
29	CENPF	Ssm	13	231	5.6%	cbioportal
28	AHNAK2	Ssm	13	231	5.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Liver Hepatocellular Carcinoma (RIKEN, Nat Genet 2012) lihc_rikenRIKEN

27 cases with simple somatic mutation data · 27 cases total · 2026-01-07 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved14 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	13	27	48.1%	cbioportal
2	ATM	Ssm	4	27	14.8%	cbioportal
6	WWP1	Ssm	3	27	11.1%	cbioportal
3	ARID1A	Ssm	3	27	11.1%	cbioportal
5	CTNNB1	Ssm	3	27	11.1%	cbioportal
4	BAZ2B	Ssm	3	27	11.1%	cbioportal
12	USP25	Ssm	2	27	7.4%	cbioportal
11	OTOP1	Ssm	2	27	7.4%	cbioportal
10	IGSF10	Ssm	2	27	7.4%	cbioportal
8	ERRFI1	Ssm	2	27	7.4%	cbioportal
7	ALB	Ssm	2	27	7.4%	cbioportal
9	GXYLT1	Ssm	2	27	7.4%	cbioportal
13	ZIC3	Ssm	2	27	7.4%	cbioportal
14	UBR3	Ssm	1	27	3.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Liver Hepatocellular Carcinoma (TCGA, Firehose Legacy) lihc_tcgaTCGA

373 cases with simple somatic mutation data · 379 cases total · 2026-01-07 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	115	373	30.8%	cbioportal
2	TTN	Ssm	105	373	28.2%	cbioportal
3	CTNNB1	Ssm	97	373	26%	cbioportal
4	MUC16	Ssm	54	373	14.5%	cbioportal
5	ALB	Ssm	43	373	11.5%	cbioportal
6	APOB	Ssm	39	373	10.5%	cbioportal
7	RYR2	Ssm	39	373	10.5%	cbioportal
8	PCLO	Ssm	35	373	9.4%	cbioportal
11	OBSCN	Ssm	33	373	8.8%	cbioportal
9	CSMD3	Ssm	33	373	8.8%	cbioportal
10	LRP1B	Ssm	33	373	8.8%	cbioportal
12	ABCA13	Ssm	32	373	8.6%	cbioportal
13	ARID1A	Ssm	32	373	8.6%	cbioportal
14	CACNA1E	Ssm	31	373	8.3%	cbioportal
15	RYR1	Ssm	30	373	8%	cbioportal
16	XIRP2	Ssm	29	373	7.8%	cbioportal
17	SPTA1	Ssm	28	373	7.5%	cbioportal
18	HMCN1	Ssm	27	373	7.2%	cbioportal
22	USH2A	Ssm	26	373	7%	cbioportal
20	FLG	Ssm	26	373	7%	cbioportal
19	AHNAK2	Ssm	26	373	7%	cbioportal
21	FRAS1	Ssm	26	373	7%	cbioportal
24	MUC4	Ssm	25	373	6.7%	cbioportal
23	FAT3	Ssm	25	373	6.7%	cbioportal
26	ALMS1	Ssm	24	373	6.4%	cbioportal
28	DNAH6	Ssm	24	373	6.4%	cbioportal
27	AXIN1	Ssm	24	373	6.4%	cbioportal
25	ADGRV1	Ssm	24	373	6.4%	cbioportal
29	CSMD1	Ssm	23	373	6.2%	cbioportal
30	DNAH7	Ssm	23	373	6.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Liver Hepatocellular Carcinoma (TCGA, PanCancer Atlas) lihc_tcga_pan_can_atlas_2018TCGA

366 cases with simple somatic mutation data · 372 cases total · 2026-06-03 · mapped to Hepatocellular Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	110	366	30.1%	cbioportal
2	TTN	Ssm	98	366	26.8%	cbioportal
3	CTNNB1	Ssm	95	366	26%	cbioportal
4	MUC16	Ssm	60	366	16.4%	cbioportal
5	ALB	Ssm	47	366	12.8%	cbioportal
6	PCLO	Ssm	39	366	10.7%	cbioportal
7	RYR2	Ssm	37	366	10.1%	cbioportal
8	APOB	Ssm	35	366	9.6%	cbioportal
9	OBSCN	Ssm	35	366	9.6%	cbioportal
10	LRP1B	Ssm	33	366	9%	cbioportal
11	FLG	Ssm	32	366	8.7%	cbioportal
12	ABCA13	Ssm	31	366	8.5%	cbioportal
13	CSMD3	Ssm	30	366	8.2%	cbioportal
14	ARID1A	Ssm	29	366	7.9%	cbioportal
16	XIRP2	Ssm	29	366	7.9%	cbioportal
15	CACNA1E	Ssm	29	366	7.9%	cbioportal
17	FAT3	Ssm	27	366	7.4%	cbioportal
18	ADGRV1	Ssm	26	366	7.1%	cbioportal
19	HMCN1	Ssm	26	366	7.1%	cbioportal
20	AXIN1	Ssm	25	366	6.8%	cbioportal
21	SPTA1	Ssm	25	366	6.8%	cbioportal
22	USH2A	Ssm	25	366	6.8%	cbioportal
23	PRKDC	Ssm	24	366	6.6%	cbioportal
24	RYR1	Ssm	24	366	6.6%	cbioportal
25	CSMD1	Ssm	23	366	6.3%	cbioportal
26	DNAH7	Ssm	23	366	6.3%	cbioportal
27	DOCK2	Ssm	23	366	6.3%	cbioportal
29	HERC2	Ssm	22	366	6%	cbioportal
28	CUBN	Ssm	22	366	6%	cbioportal
30	FBN2	Ssm	21	366	5.7%	cbioportal

Data updated 22 days agoSource updated 2026-06-03

Low-Grade Gliomas (UCSF, Science 2014) lgg_ucsf_2014UCSF

61 cases with simple somatic mutation data · 61 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	61	61	100%	cbioportal
2	TP53	Ssm	55	61	90.2%	cbioportal
3	ATRX	Ssm	50	61	82%	cbioportal
4	SMARCA4	Ssm	10	61	16.4%	cbioportal
5	BOD1L1	Ssm	9	61	14.8%	cbioportal
6	TMPRSS15	Ssm	9	61	14.8%	cbioportal
8	FAT1	Ssm	8	61	13.1%	cbioportal
7	DCHS2	Ssm	8	61	13.1%	cbioportal
10	MUC16	Ssm	8	61	13.1%	cbioportal
9	FLG	Ssm	8	61	13.1%	cbioportal
18	KMT2C	Ssm	7	61	11.5%	cbioportal
20	PCLO	Ssm	7	61	11.5%	cbioportal
17	FLNB	Ssm	7	61	11.5%	cbioportal
21	SPHKAP	Ssm	7	61	11.5%	cbioportal
15	COL6A3	Ssm	7	61	11.5%	cbioportal
14	COL12A1	Ssm	7	61	11.5%	cbioportal
13	CDHR3	Ssm	7	61	11.5%	cbioportal
12	ARNT	Ssm	7	61	11.5%	cbioportal
11	ANK3	Ssm	7	61	11.5%	cbioportal
16	DYTN	Ssm	7	61	11.5%	cbioportal
22	TEX11	Ssm	7	61	11.5%	cbioportal
19	MUC6	Ssm	7	61	11.5%	cbioportal
24	APOB	Ssm	6	61	9.8%	cbioportal
35	KIF26B	Ssm	6	61	9.8%	cbioportal
23	ADGRV1	Ssm	6	61	9.8%	cbioportal
25	ASPM	Ssm	6	61	9.8%	cbioportal
26	ATP2B4	Ssm	6	61	9.8%	cbioportal
27	BCL11B	Ssm	6	61	9.8%	cbioportal
28	CCDC91	Ssm	6	61	9.8%	cbioportal
29	CDKN2A	Ssm	6	61	9.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Low-Grade Serous Ovarian Cancer (MSK, Clin Cancer Res 2022) lgsoc_mapk_msk_2022MSK

119 cases with simple somatic mutation data · 119 cases total · 2026-01-16 · mapped to Low-Grade Serous Ovarian Cancer EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	38	119	31.9%	cbioportal
2	NRAS	Ssm	13	119	10.9%	cbioportal
3	BRAF	Ssm	11	119	9.2%	cbioportal
4	EIF1AX	Ssm	11	119	9.2%	cbioportal
5	KMT2D	Ssm	5	119	4.2%	cbioportal
6	ERBB2	Ssm	4	119	3.4%	cbioportal
7	ANKRD11	Ssm	3	111	2.7%	cbioportal
8	ARID1B	Ssm	3	119	2.5%	cbioportal
20	ROS1	Ssm	2	119	1.7%	cbioportal
21	RUNX1	Ssm	2	119	1.7%	cbioportal
19	RB1	Ssm	2	119	1.7%	cbioportal
23	TERT	Ssm	2	119	1.7%	cbioportal
22	TBX3	Ssm	2	119	1.7%	cbioportal
9	ATRX	Ssm	2	119	1.7%	cbioportal
10	BARD1	Ssm	2	119	1.7%	cbioportal
11	CTCF	Ssm	2	119	1.7%	cbioportal
12	KMT2A	Ssm	2	119	1.7%	cbioportal
13	KMT2C	Ssm	2	119	1.7%	cbioportal
14	MAP3K1	Ssm	2	119	1.7%	cbioportal
15	MET	Ssm	2	119	1.7%	cbioportal
16	NF1	Ssm	2	119	1.7%	cbioportal
17	NF2	Ssm	2	119	1.7%	cbioportal
18	PTPRS	Ssm	2	119	1.7%	cbioportal
24	TP53	Ssm	2	119	1.7%	cbioportal
88	RTEL1	Ssm	1	88	1.1%	cbioportal
52	ERF	Ssm	1	88	1.1%	cbioportal
36	CARM1	Ssm	1	88	1.1%	cbioportal
71	MSH3	Ssm	1	88	1.1%	cbioportal
48	EPAS1	Ssm	1	88	1.1%	cbioportal
58	GLI1	Ssm	1	111	0.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Lung Adenocarcinoma TCGA-LUADTCGA

573 cases with simple somatic mutation data · 585 cases total · Data Release 46.0 · mapped to Lung Adenocarcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	RYR2	Ssm	413	573	72.1%	gdc
2	FLG	Ssm	406	573	70.9%	gdc
3	USH2A	Ssm	402	573	70.2%	gdc
4	SPTA1	Ssm	400	573	69.8%	gdc
5	TP53	Ssm	393	573	68.6%	gdc
6	FLG2	Ssm	388	573	67.7%	gdc
8	HRNR	Ssm	383	573	66.8%	gdc
7	CSMD3	Ssm	383	573	66.8%	gdc
9	TNR	Ssm	382	573	66.7%	gdc
10	TNN	Ssm	382	573	66.7%	gdc
11	ASH1L	Ssm	382	573	66.7%	gdc
12	HMCN1	Ssm	379	573	66.1%	gdc
13	MUC16	Ssm	376	573	65.6%	gdc
14	CACNA1E	Ssm	374	573	65.3%	gdc
15	TCHH	Ssm	374	573	65.3%	gdc
16	PAPPA2	Ssm	374	573	65.3%	gdc
17	ASTN1	Ssm	373	573	65.1%	gdc
18	KCNN3	Ssm	372	573	64.9%	gdc
20	ASPM	Ssm	371	573	64.7%	gdc
19	NUP210L	Ssm	371	573	64.7%	gdc
22	ADAR	Ssm	370	573	64.6%	gdc
23	FCRL5	Ssm	370	573	64.6%	gdc
21	ATP8B2	Ssm	370	573	64.6%	gdc
24	NPR1	Ssm	369	573	64.4%	gdc
25	AQP10	Ssm	369	573	64.4%	gdc
26	PKLR	Ssm	369	573	64.4%	gdc
27	CLK2	Ssm	368	573	64.2%	gdc
34	PRUNE1	Ssm	368	573	64.2%	gdc
28	PEAR1	Ssm	368	573	64.2%	gdc
29	SETDB1	Ssm	368	573	64.2%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Lung Adenocarcinoma (Broad, Cell 2012) luad_broadBroad

183 cases with simple somatic mutation data · 183 cases total · 2026-01-07 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	95	183	51.9%	cbioportal
2	TTN	Ssm	83	183	45.4%	cbioportal
3	MUC16	Ssm	71	183	38.8%	cbioportal
4	USH2A	Ssm	64	183	35%	cbioportal
6	RYR2	Ssm	62	183	33.9%	cbioportal
5	CSMD3	Ssm	62	183	33.9%	cbioportal
7	LRP1B	Ssm	59	183	32.2%	cbioportal
8	SPTA1	Ssm	56	183	30.6%	cbioportal
11	ZFHX4	Ssm	49	183	26.8%	cbioportal
9	KRAS	Ssm	49	183	26.8%	cbioportal
10	XIRP2	Ssm	49	183	26.8%	cbioportal
12	FAT3	Ssm	48	183	26.2%	cbioportal
13	FLG	Ssm	48	183	26.2%	cbioportal
14	PCLO	Ssm	43	183	23.5%	cbioportal
15	PCDH15	Ssm	40	183	21.9%	cbioportal
16	OBSCN	Ssm	37	183	20.2%	cbioportal
22	RYR3	Ssm	35	183	19.1%	cbioportal
21	PAPPA2	Ssm	35	183	19.1%	cbioportal
20	MUC17	Ssm	35	183	19.1%	cbioportal
19	CSMD1	Ssm	35	183	19.1%	cbioportal
18	APOB	Ssm	35	183	19.1%	cbioportal
17	ABCA13	Ssm	35	183	19.1%	cbioportal
23	SI	Ssm	35	183	19.1%	cbioportal
24	NRXN1	Ssm	34	183	18.6%	cbioportal
26	EGFR	Ssm	32	183	17.5%	cbioportal
27	RELN	Ssm	32	183	17.5%	cbioportal
28	RP1L1	Ssm	32	183	17.5%	cbioportal
25	COL11A1	Ssm	32	183	17.5%	cbioportal
30	DNAH9	Ssm	31	183	16.9%	cbioportal
29	ADGRL3	Ssm	31	183	16.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Lung Adenocarcinoma (CAS, Cell 2020) luad_cas_2020CAS

103 cases with simple somatic mutation data · 103 cases total · 2026-01-19 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	53	103	51.5%	cbioportal
2	EGFR	Ssm	51	103	49.5%	cbioportal
3	TTN	Ssm	23	103	22.3%	cbioportal
4	RYR2	Ssm	15	103	14.6%	cbioportal
5	MUC16	Ssm	13	103	12.6%	cbioportal
8	OBSCN	Ssm	12	103	11.7%	cbioportal
6	AHNAK2	Ssm	12	103	11.7%	cbioportal
7	MUC17	Ssm	12	103	11.7%	cbioportal
9	ZNF536	Ssm	11	103	10.7%	cbioportal
13	HMCN1	Ssm	10	103	9.7%	cbioportal
10	APOB	Ssm	10	103	9.7%	cbioportal
11	CSMD3	Ssm	10	103	9.7%	cbioportal
12	FLG	Ssm	10	103	9.7%	cbioportal
21	USH2A	Ssm	9	103	8.7%	cbioportal
14	COL11A1	Ssm	9	103	8.7%	cbioportal
15	DMD	Ssm	9	103	8.7%	cbioportal
16	FAT3	Ssm	9	103	8.7%	cbioportal
17	MUC12	Ssm	9	103	8.7%	cbioportal
18	PLEC	Ssm	9	103	8.7%	cbioportal
19	RYR1	Ssm	9	103	8.7%	cbioportal
20	SPEG	Ssm	9	103	8.7%	cbioportal
30	TENM4	Ssm	8	103	7.8%	cbioportal
22	BRINP3	Ssm	8	103	7.8%	cbioportal
23	EYS	Ssm	8	103	7.8%	cbioportal
24	ICE1	Ssm	8	103	7.8%	cbioportal
25	MUC5B	Ssm	8	103	7.8%	cbioportal
26	PAPPA2	Ssm	8	103	7.8%	cbioportal
27	PCDH15	Ssm	8	103	7.8%	cbioportal
28	RELN	Ssm	8	103	7.8%	cbioportal
29	RYR3	Ssm	8	103	7.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-19

Lung Adenocarcinoma (CPTAC, Cell 2020) luad_cptac_2020CPTAC

110 cases with simple somatic mutation data · 110 cases total · 2026-01-16 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	59	110	53.6%	cbioportal
2	EGFR	Ssm	38	110	34.5%	cbioportal
3	MUC16	Ssm	37	110	33.6%	cbioportal
5	TTN	Ssm	35	110	31.8%	cbioportal
4	RYR2	Ssm	35	110	31.8%	cbioportal
6	LRP1B	Ssm	34	110	30.9%	cbioportal
8	KRAS	Ssm	33	110	30%	cbioportal
7	CSMD3	Ssm	33	110	30%	cbioportal
9	USH2A	Ssm	28	110	25.5%	cbioportal
10	ZFHX4	Ssm	26	110	23.6%	cbioportal
11	FAT3	Ssm	23	110	20.9%	cbioportal
12	COL11A1	Ssm	22	110	20%	cbioportal
14	SPTA1	Ssm	21	110	19.1%	cbioportal
13	FAM135B	Ssm	21	110	19.1%	cbioportal
16	PCLO	Ssm	20	110	18.2%	cbioportal
15	CSMD1	Ssm	20	110	18.2%	cbioportal
17	STK11	Ssm	20	110	18.2%	cbioportal
21	NRXN1	Ssm	19	110	17.3%	cbioportal
18	APOB	Ssm	19	110	17.3%	cbioportal
19	EYS	Ssm	19	110	17.3%	cbioportal
22	PCDH15	Ssm	19	110	17.3%	cbioportal
20	MUC17	Ssm	19	110	17.3%	cbioportal
23	CNTNAP2	Ssm	18	110	16.4%	cbioportal
25	XIRP2	Ssm	18	110	16.4%	cbioportal
24	FLG	Ssm	18	110	16.4%	cbioportal
30	NAV3	Ssm	17	110	15.5%	cbioportal
26	ADAMTS12	Ssm	17	110	15.5%	cbioportal
27	ANK2	Ssm	17	110	15.5%	cbioportal
28	FBN2	Ssm	17	110	15.5%	cbioportal
29	LRTM3	Ssm	17	110	15.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Lung Adenocarcinoma (CPTAC GDC, 2025) luad_cptac_gdcCPTAC GDC

236 cases with simple somatic mutation data · 241 cases total · 2026-01-14 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	119	236	50.4%	cbioportal
2	RYR2	Ssm	80	236	33.9%	cbioportal
3	CSMD3	Ssm	76	236	32.2%	cbioportal
4	MUC16	Ssm	75	236	31.8%	cbioportal
5	EGFR	Ssm	70	236	29.7%	cbioportal
6	USH2A	Ssm	70	236	29.7%	cbioportal
7	KRAS	Ssm	69	236	29.2%	cbioportal
8	TTN	Ssm	68	236	28.8%	cbioportal
9	ZFHX4	Ssm	57	236	24.2%	cbioportal
10	LRP1B	Ssm	53	236	22.5%	cbioportal
11	XIRP2	Ssm	53	236	22.5%	cbioportal
12	CSMD1	Ssm	51	236	21.6%	cbioportal
13	FSIP2	Ssm	51	236	21.6%	cbioportal
15	SPTA1	Ssm	47	236	19.9%	cbioportal
14	LRTM3	Ssm	47	236	19.9%	cbioportal
16	FAT3	Ssm	45	236	19.1%	cbioportal
18	MUC17	Ssm	44	236	18.6%	cbioportal
17	EYS	Ssm	44	236	18.6%	cbioportal
19	PCLO	Ssm	42	236	17.8%	cbioportal
21	COL11A1	Ssm	41	236	17.4%	cbioportal
20	APOB	Ssm	41	236	17.4%	cbioportal
22	FLG	Ssm	41	236	17.4%	cbioportal
24	ZNF536	Ssm	40	236	16.9%	cbioportal
23	SYNE1	Ssm	40	236	16.9%	cbioportal
25	PCDH15	Ssm	38	236	16.1%	cbioportal
28	STK11	Ssm	37	236	15.7%	cbioportal
27	NAV3	Ssm	37	236	15.7%	cbioportal
26	FAT4	Ssm	37	236	15.7%	cbioportal
29	ANK2	Ssm	36	236	15.3%	cbioportal
30	RYR3	Ssm	36	236	15.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Lung Adenocarcinoma Met Organotropism (MSK, Cancer Cell 2023) luad_mskcc_2023_met_organotropismMSK

2,653 cases with simple somatic mutation data · 2,653 cases total · 2026-01-07 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	1,429	2,653	53.9%	cbioportal
59	TTN	Ssm	90	231	39%	cbioportal
65	RYR2	Ssm	85	231	36.8%	cbioportal
2	EGFR	Ssm	866	2,653	32.6%	cbioportal
82	MUC16	Ssm	72	231	31.2%	cbioportal
3	KRAS	Ssm	787	2,653	29.7%	cbioportal
90	CSMD3	Ssm	65	231	28.1%	cbioportal
94	LRP1B	Ssm	64	231	27.7%	cbioportal
102	USH2A	Ssm	61	231	26.4%	cbioportal
119	CSMD1	Ssm	54	231	23.4%	cbioportal
125	FSIP2	Ssm	52	231	22.5%	cbioportal
144	EYS	Ssm	45	231	19.5%	cbioportal
149	PCDH15	Ssm	43	231	18.6%	cbioportal
153	ZNF536	Ssm	43	231	18.6%	cbioportal
152	ZFHX4	Ssm	43	231	18.6%	cbioportal
150	SPTA1	Ssm	43	231	18.6%	cbioportal
154	ABCA13	Ssm	42	231	18.2%	cbioportal
168	XIRP2	Ssm	41	231	17.7%	cbioportal
164	CACNA1E	Ssm	41	231	17.7%	cbioportal
4	STK11	Ssm	450	2,653	17%	cbioportal
182	ASXL3	Ssm	38	231	16.5%	cbioportal
183	FAT3	Ssm	38	231	16.5%	cbioportal
186	RYR1	Ssm	38	231	16.5%	cbioportal
189	COL11A1	Ssm	37	231	16%	cbioportal
191	MUC17	Ssm	37	231	16%	cbioportal
198	PAPPA2	Ssm	36	231	15.6%	cbioportal
200	ANK2	Ssm	35	231	15.2%	cbioportal
5	KEAP1	Ssm	400	2,653	15.1%	cbioportal
6	RBM10	Ssm	294	2,653	11.1%	cbioportal
7	PTPRD	Ssm	270	2,653	10.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Lung Adenocarcinoma (MSK, 2021) luad_mskimpact_2021MSK

186 cases with simple somatic mutation data · 186 cases total · 2026-04-07 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	EGFR	Ssm	183	186	98.4%	cbioportal
2	TP53	Ssm	128	186	68.8%	cbioportal
3	PIK3CA	Ssm	20	186	10.8%	cbioportal
4	RB1	Ssm	19	186	10.2%	cbioportal
5	CTNNB1	Ssm	18	186	9.7%	cbioportal
6	RBM10	Ssm	14	186	7.5%	cbioportal
7	PTEN	Ssm	13	186	7%	cbioportal
8	ARID1A	Ssm	10	186	5.4%	cbioportal
10	PTPRD	Ssm	9	186	4.8%	cbioportal
9	ATR	Ssm	9	186	4.8%	cbioportal
13	ZFHX3	Ssm	8	185	4.3%	cbioportal
11	APC	Ssm	8	186	4.3%	cbioportal
12	KMT2C	Ssm	8	186	4.3%	cbioportal
14	SMARCA4	Ssm	7	186	3.8%	cbioportal
18	TSC2	Ssm	6	186	3.2%	cbioportal
17	NOTCH4	Ssm	6	186	3.2%	cbioportal
16	FAT1	Ssm	6	186	3.2%	cbioportal
15	ASXL1	Ssm	6	186	3.2%	cbioportal
23	MGA	Ssm	5	185	2.7%	cbioportal
27	PLCG2	Ssm	5	185	2.7%	cbioportal
29	TET1	Ssm	5	186	2.7%	cbioportal
28	PTPRT	Ssm	5	186	2.7%	cbioportal
25	NBN	Ssm	5	186	2.7%	cbioportal
24	MTOR	Ssm	5	186	2.7%	cbioportal
22	MED12	Ssm	5	186	2.7%	cbioportal
21	KEAP1	Ssm	5	186	2.7%	cbioportal
20	H1-2	Ssm	5	186	2.7%	cbioportal
19	EPHA5	Ssm	5	186	2.7%	cbioportal
26	NOTCH2	Ssm	5	186	2.7%	cbioportal
35	CSF3R	Ssm	4	185	2.2%	cbioportal

Data updated 22 days agoSource updated 2026-04-07

Lung Adenocarcinoma (MSK, J Thorac Oncol 2020) luad_mskcc_2020MSK

604 cases with simple somatic mutation data · 604 cases total · 2026-01-07 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	230	604	38.1%	cbioportal
2	TP53	Ssm	219	604	36.3%	cbioportal
3	EGFR	Ssm	182	604	30.1%	cbioportal
4	RBM10	Ssm	97	604	16.1%	cbioportal
5	STK11	Ssm	90	604	14.9%	cbioportal
6	KEAP1	Ssm	68	604	11.3%	cbioportal
7	NF1	Ssm	48	604	7.9%	cbioportal
10	PTPRT	Ssm	47	604	7.8%	cbioportal
8	FAT1	Ssm	47	604	7.8%	cbioportal
9	PTPRD	Ssm	47	604	7.8%	cbioportal
11	ATM	Ssm	44	604	7.3%	cbioportal
12	SETD2	Ssm	43	604	7.1%	cbioportal
13	BRAF	Ssm	41	604	6.8%	cbioportal
14	MED12	Ssm	39	604	6.5%	cbioportal
15	EPHA3	Ssm	38	604	6.3%	cbioportal
16	PIK3CA	Ssm	35	604	5.8%	cbioportal
17	MET	Ssm	34	604	5.6%	cbioportal
18	NTRK3	Ssm	34	604	5.6%	cbioportal
19	MGA	Ssm	33	596	5.5%	cbioportal
20	SMARCA4	Ssm	33	604	5.5%	cbioportal
23	EPHA5	Ssm	30	604	5%	cbioportal
22	ATRX	Ssm	30	604	5%	cbioportal
21	ARID2	Ssm	30	604	5%	cbioportal
24	ERBB4	Ssm	29	604	4.8%	cbioportal
25	KMT2D	Ssm	28	604	4.6%	cbioportal
26	CDKN2A	Ssm	27	604	4.5%	cbioportal
27	ERBB2	Ssm	27	604	4.5%	cbioportal
29	TERT	Ssm	27	604	4.5%	cbioportal
28	GRIN2A	Ssm	27	604	4.5%	cbioportal
31	MTOR	Ssm	26	604	4.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Lung Adenocarcinoma (MSK, NPJ Precision Oncology 2021) luad_msk_npjpo_2021MSK

426 cases with simple somatic mutation data · 426 cases total · 2026-01-07 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	155	426	36.4%	cbioportal
2	KRAS	Ssm	147	426	34.5%	cbioportal
3	EGFR	Ssm	139	426	32.6%	cbioportal
4	RBM10	Ssm	81	426	19%	cbioportal
5	STK11	Ssm	66	426	15.5%	cbioportal
6	KEAP1	Ssm	46	426	10.8%	cbioportal
7	FAT1	Ssm	36	426	8.5%	cbioportal
8	NF1	Ssm	35	426	8.2%	cbioportal
10	SETD2	Ssm	34	426	8%	cbioportal
9	PTPRD	Ssm	34	426	8%	cbioportal
11	PTPRT	Ssm	32	426	7.5%	cbioportal
12	ATM	Ssm	30	426	7%	cbioportal
14	SMARCA4	Ssm	29	426	6.8%	cbioportal
13	BRAF	Ssm	29	426	6.8%	cbioportal
15	KMT2D	Ssm	28	426	6.6%	cbioportal
16	MED12	Ssm	28	426	6.6%	cbioportal
21	MGA	Ssm	24	418	5.7%	cbioportal
17	EPHA3	Ssm	24	426	5.6%	cbioportal
22	NTRK3	Ssm	24	426	5.6%	cbioportal
19	KMT2C	Ssm	24	426	5.6%	cbioportal
20	MET	Ssm	24	426	5.6%	cbioportal
18	GRIN2A	Ssm	24	426	5.6%	cbioportal
23	ARID2	Ssm	23	426	5.4%	cbioportal
25	ERBB4	Ssm	22	426	5.2%	cbioportal
26	PIK3C2G	Ssm	22	426	5.2%	cbioportal
24	EPHA5	Ssm	22	426	5.2%	cbioportal
27	PIK3CA	Ssm	22	426	5.2%	cbioportal
28	FLT1	Ssm	21	426	4.9%	cbioportal
29	NOTCH4	Ssm	21	426	4.9%	cbioportal
30	TERT	Ssm	20	426	4.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Lung Adenocarcinoma (MSK, Science 2015) luad_mskcc_2015MSK

35 cases with simple somatic mutation data · 35 cases total · 2026-01-07 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC4	Ssm	19	35	54.3%	cbioportal
2	TP53	Ssm	16	35	45.7%	cbioportal
3	MUC16	Ssm	13	35	37.1%	cbioportal
4	CSMD3	Ssm	11	35	31.4%	cbioportal
5	LRP1B	Ssm	11	35	31.4%	cbioportal
6	TTN	Ssm	11	35	31.4%	cbioportal
7	HRNR	Ssm	10	35	28.6%	cbioportal
8	OBSCN	Ssm	10	35	28.6%	cbioportal
9	RYR2	Ssm	10	35	28.6%	cbioportal
10	ZFHX4	Ssm	10	35	28.6%	cbioportal
11	FLG	Ssm	9	35	25.7%	cbioportal
12	FLNC	Ssm	9	35	25.7%	cbioportal
13	TNRC18	Ssm	9	35	25.7%	cbioportal
15	KRAS	Ssm	8	35	22.9%	cbioportal
14	CROCC	Ssm	8	35	22.9%	cbioportal
17	CRB2	Ssm	7	35	20%	cbioportal
20	PCDH15	Ssm	7	35	20%	cbioportal
19	MUC5B	Ssm	7	35	20%	cbioportal
18	CSMD1	Ssm	7	35	20%	cbioportal
16	CACNA1A	Ssm	7	35	20%	cbioportal
21	ANK2	Ssm	6	35	17.1%	cbioportal
22	APOB	Ssm	6	35	17.1%	cbioportal
23	CDH10	Ssm	6	35	17.1%	cbioportal
24	CSMD2	Ssm	6	35	17.1%	cbioportal
25	DNAH11	Ssm	6	35	17.1%	cbioportal
26	FBN2	Ssm	6	35	17.1%	cbioportal
27	JAG2	Ssm	6	35	17.1%	cbioportal
28	MROH2B	Ssm	6	35	17.1%	cbioportal
29	MUC17	Ssm	6	35	17.1%	cbioportal
30	NPHP4	Ssm	6	35	17.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Lung Adenocarcinoma (OncoSG, Nat Genet 2020) luad_oncosg_2020OncoSG

302 cases with simple somatic mutation data · 305 cases total · 2026-01-07 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	EGFR	Ssm	143	302	47.4%	cbioportal
2	TP53	Ssm	109	302	36.1%	cbioportal
3	TTN	Ssm	68	302	22.5%	cbioportal
4	RYR2	Ssm	50	302	16.6%	cbioportal
5	USH2A	Ssm	50	302	16.6%	cbioportal
6	MUC16	Ssm	46	302	15.2%	cbioportal
7	CSMD3	Ssm	43	302	14.2%	cbioportal
8	ZFHX4	Ssm	39	302	12.9%	cbioportal
9	FLG	Ssm	37	302	12.3%	cbioportal
10	LRP1B	Ssm	35	302	11.6%	cbioportal
11	KRAS	Ssm	33	302	10.9%	cbioportal
12	PCLO	Ssm	30	302	9.9%	cbioportal
13	SPTA1	Ssm	30	302	9.9%	cbioportal
14	XIRP2	Ssm	30	302	9.9%	cbioportal
15	ANK2	Ssm	29	302	9.6%	cbioportal
16	SI	Ssm	27	302	8.9%	cbioportal
18	FAT3	Ssm	26	302	8.6%	cbioportal
17	CTNND2	Ssm	26	302	8.6%	cbioportal
19	MUC17	Ssm	26	302	8.6%	cbioportal
23	FAT4	Ssm	24	302	7.9%	cbioportal
20	AHNAK2	Ssm	24	302	7.9%	cbioportal
21	COL11A1	Ssm	24	302	7.9%	cbioportal
22	CSMD1	Ssm	24	302	7.9%	cbioportal
24	PRDM9	Ssm	24	302	7.9%	cbioportal
28	ZNF536	Ssm	23	302	7.6%	cbioportal
25	MUC4	Ssm	23	302	7.6%	cbioportal
26	NAV3	Ssm	23	302	7.6%	cbioportal
27	NEB	Ssm	23	302	7.6%	cbioportal
29	RBM10	Ssm	22	302	7.3%	cbioportal
30	ADAMTS12	Ssm	21	302	7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Lung Adenocarcinoma (TCGA, Firehose Legacy) luad_tcgaTCGA

230 cases with simple somatic mutation data · 586 cases total · 2026-01-07 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	108	230	47%	cbioportal
2	TP53	Ssm	106	230	46.1%	cbioportal
3	MUC16	Ssm	91	230	39.6%	cbioportal
4	RYR2	Ssm	82	230	35.7%	cbioportal
5	KRAS	Ssm	75	230	32.6%	cbioportal
7	USH2A	Ssm	68	230	29.6%	cbioportal
6	LRP1B	Ssm	68	230	29.6%	cbioportal
8	ZFHX4	Ssm	63	230	27.4%	cbioportal
9	FLG	Ssm	62	230	27%	cbioportal
10	SPTA1	Ssm	58	230	25.2%	cbioportal
11	MUC17	Ssm	48	230	20.9%	cbioportal
12	XIRP2	Ssm	47	230	20.4%	cbioportal
13	PCLO	Ssm	46	230	20%	cbioportal
14	NAV3	Ssm	45	230	19.6%	cbioportal
16	FAT3	Ssm	44	230	19.1%	cbioportal
15	CSMD1	Ssm	44	230	19.1%	cbioportal
18	PCDH15	Ssm	42	230	18.3%	cbioportal
17	KMT2C	Ssm	42	230	18.3%	cbioportal
19	ZNF536	Ssm	42	230	18.3%	cbioportal
21	KEAP1	Ssm	40	230	17.4%	cbioportal
20	COL11A1	Ssm	40	230	17.4%	cbioportal
22	STK11	Ssm	40	230	17.4%	cbioportal
24	PAPPA2	Ssm	39	230	17%	cbioportal
23	ADGRG4	Ssm	39	230	17%	cbioportal
25	RP1L1	Ssm	39	230	17%	cbioportal
29	ZNF804A	Ssm	38	230	16.5%	cbioportal
26	ADAMTS12	Ssm	38	230	16.5%	cbioportal
27	AHNAK2	Ssm	38	230	16.5%	cbioportal
28	APOB	Ssm	38	230	16.5%	cbioportal
30	DNAH9	Ssm	37	230	16.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Lung Adenocarcinoma (TCGA GDC, 2025) luad_tcga_gdcTCGA GDC

559 cases with simple somatic mutation data · 571 cases total · 2026-01-13 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	284	559	50.8%	cbioportal
2	TTN	Ssm	245	559	43.8%	cbioportal
3	MUC16	Ssm	225	559	40.3%	cbioportal
4	CSMD3	Ssm	213	559	38.1%	cbioportal
5	RYR2	Ssm	200	559	35.8%	cbioportal
6	LRP1B	Ssm	184	559	32.9%	cbioportal
7	ZFHX4	Ssm	172	559	30.8%	cbioportal
8	USH2A	Ssm	168	559	30.1%	cbioportal
9	KRAS	Ssm	149	559	26.7%	cbioportal
10	XIRP2	Ssm	134	559	24%	cbioportal
11	FLG	Ssm	129	559	23.1%	cbioportal
12	SPTA1	Ssm	124	559	22.2%	cbioportal
13	NAV3	Ssm	117	559	20.9%	cbioportal
14	COL11A1	Ssm	114	559	20.4%	cbioportal
15	ZNF536	Ssm	112	559	20%	cbioportal
16	FAT3	Ssm	107	559	19.1%	cbioportal
17	ANK2	Ssm	106	559	19%	cbioportal
18	CSMD1	Ssm	103	559	18.4%	cbioportal
19	PCLO	Ssm	103	559	18.4%	cbioportal
20	APOB	Ssm	101	559	18.1%	cbioportal
21	PCDH15	Ssm	101	559	18.1%	cbioportal
22	KEAP1	Ssm	98	559	17.5%	cbioportal
23	ADAMTS12	Ssm	97	559	17.4%	cbioportal
24	MUC17	Ssm	97	559	17.4%	cbioportal
25	TNR	Ssm	95	559	17%	cbioportal
26	DNAH9	Ssm	93	559	16.6%	cbioportal
27	PAPPA2	Ssm	90	559	16.1%	cbioportal
28	RP1L1	Ssm	90	559	16.1%	cbioportal
29	ADGRG4	Ssm	89	559	15.9%	cbioportal
30	RYR3	Ssm	89	559	15.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Lung Adenocarcinoma (TCGA, Nature 2014) luad_tcga_pubTCGA

230 cases with simple somatic mutation data · 230 cases total · 2026-01-19 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	108	230	47%	cbioportal
2	TP53	Ssm	107	230	46.5%	cbioportal
3	MUC16	Ssm	91	230	39.6%	cbioportal
4	RYR2	Ssm	82	230	35.7%	cbioportal
5	CSMD3	Ssm	81	230	35.2%	cbioportal
6	KRAS	Ssm	75	230	32.6%	cbioportal
7	LRP1B	Ssm	68	230	29.6%	cbioportal
8	USH2A	Ssm	68	230	29.6%	cbioportal
9	ZFHX4	Ssm	63	230	27.4%	cbioportal
10	FLG	Ssm	62	230	27%	cbioportal
11	SPTA1	Ssm	58	230	25.2%	cbioportal
12	MUC17	Ssm	48	230	20.9%	cbioportal
13	XIRP2	Ssm	47	230	20.4%	cbioportal
14	PCLO	Ssm	46	230	20%	cbioportal
15	NAV3	Ssm	45	230	19.6%	cbioportal
17	FAT3	Ssm	44	230	19.1%	cbioportal
16	CSMD1	Ssm	44	230	19.1%	cbioportal
18	KMT2C	Ssm	43	230	18.7%	cbioportal
20	ZNF536	Ssm	42	230	18.3%	cbioportal
19	PCDH15	Ssm	42	230	18.3%	cbioportal
21	COL11A1	Ssm	40	230	17.4%	cbioportal
22	KEAP1	Ssm	40	230	17.4%	cbioportal
23	STK11	Ssm	40	230	17.4%	cbioportal
24	ADGRG4	Ssm	39	230	17%	cbioportal
25	PAPPA2	Ssm	39	230	17%	cbioportal
26	RP1L1	Ssm	39	230	17%	cbioportal
30	ZNF804A	Ssm	38	230	16.5%	cbioportal
29	APOB	Ssm	38	230	16.5%	cbioportal
28	AHNAK2	Ssm	38	230	16.5%	cbioportal
27	ADAMTS12	Ssm	38	230	16.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-19

Lung Adenocarcinoma (TCGA, PanCancer Atlas) luad_tcga_pan_can_atlas_2018TCGA

566 cases with simple somatic mutation data · 566 cases total · 2026-06-04 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	295	566	52.1%	cbioportal
2	TTN	Ssm	272	566	48.1%	cbioportal
3	MUC16	Ssm	242	566	42.8%	cbioportal
4	CSMD3	Ssm	226	566	39.9%	cbioportal
5	RYR2	Ssm	217	566	38.3%	cbioportal
6	LRP1B	Ssm	201	566	35.5%	cbioportal
7	ZFHX4	Ssm	185	566	32.7%	cbioportal
8	USH2A	Ssm	177	566	31.3%	cbioportal
9	KRAS	Ssm	168	566	29.7%	cbioportal
10	XIRP2	Ssm	150	566	26.5%	cbioportal
11	SPTA1	Ssm	148	566	26.1%	cbioportal
12	FLG	Ssm	145	566	25.6%	cbioportal
13	CSMD1	Ssm	125	566	22.1%	cbioportal
14	NAV3	Ssm	123	566	21.7%	cbioportal
15	FAT3	Ssm	121	566	21.4%	cbioportal
16	COL11A1	Ssm	120	566	21.2%	cbioportal
17	PCDH15	Ssm	118	566	20.8%	cbioportal
18	ZNF536	Ssm	117	566	20.7%	cbioportal
19	ANK2	Ssm	111	566	19.6%	cbioportal
20	MUC17	Ssm	111	566	19.6%	cbioportal
21	PCLO	Ssm	109	566	19.3%	cbioportal
22	RYR3	Ssm	106	566	18.7%	cbioportal
23	APOB	Ssm	104	566	18.4%	cbioportal
24	KEAP1	Ssm	102	566	18%	cbioportal
25	PAPPA2	Ssm	101	566	17.8%	cbioportal
27	DNAH9	Ssm	99	566	17.5%	cbioportal
26	ADAMTS12	Ssm	99	566	17.5%	cbioportal
28	ADGRG4	Ssm	98	566	17.3%	cbioportal
29	RP1L1	Ssm	97	566	17.1%	cbioportal
30	RYR1	Ssm	95	566	16.8%	cbioportal

Data updated 22 days agoSource updated 2026-06-04

Lung Adenocarcinoma (TSP, Nature 2008) luad_tspTSP

163 cases with simple somatic mutation data · 163 cases total · 2026-01-07 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	64	163	39.3%	cbioportal
2	KRAS	Ssm	60	163	36.8%	cbioportal
3	STK11	Ssm	34	163	20.9%	cbioportal
4	EGFR	Ssm	30	163	18.4%	cbioportal
5	LRP1B	Ssm	16	163	9.8%	cbioportal
6	ATM	Ssm	13	163	8%	cbioportal
7	NF1	Ssm	13	163	8%	cbioportal
8	APC	Ssm	11	163	6.7%	cbioportal
9	EPHA3	Ssm	10	163	6.1%	cbioportal
10	CDKN2A	Ssm	9	163	5.5%	cbioportal
11	PTPRD	Ssm	9	163	5.5%	cbioportal
12	ERBB4	Ssm	8	163	4.9%	cbioportal
13	KDR	Ssm	8	163	4.9%	cbioportal
17	NTRK1	Ssm	7	163	4.3%	cbioportal
14	EPHA5	Ssm	7	163	4.3%	cbioportal
15	FGFR4	Ssm	7	163	4.3%	cbioportal
16	MYO3B	Ssm	7	163	4.3%	cbioportal
20	RB1	Ssm	7	163	4.3%	cbioportal
19	PRKDC	Ssm	7	163	4.3%	cbioportal
18	NTRK3	Ssm	7	163	4.3%	cbioportal
25	PDGFRA	Ssm	6	163	3.7%	cbioportal
23	LTK	Ssm	6	163	3.7%	cbioportal
22	INSRR	Ssm	6	163	3.7%	cbioportal
24	NTRK2	Ssm	6	163	3.7%	cbioportal
21	EPHA7	Ssm	6	163	3.7%	cbioportal
26	CDC42BPA	Ssm	5	163	3.1%	cbioportal
27	DOCK3	Ssm	5	163	3.1%	cbioportal
28	EPHB6	Ssm	5	163	3.1%	cbioportal
29	INHBA	Ssm	5	163	3.1%	cbioportal
30	JAK2	Ssm	5	163	3.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Lung Cancer in Never Smokers (NCI, Nature Genetics 2021) lung_nci_2022NCI

232 cases with simple somatic mutation data · 232 cases total · 2026-01-16 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	EGFR	Ssm	66	232	28.4%	cbioportal
2	TP53	Ssm	36	232	15.5%	cbioportal
3	TTN	Ssm	21	232	9.1%	cbioportal
5	RBM10	Ssm	17	232	7.3%	cbioportal
4	KRAS	Ssm	17	232	7.3%	cbioportal
6	MUC16	Ssm	12	232	5.2%	cbioportal
8	PIK3CA	Ssm	10	232	4.3%	cbioportal
9	SETD2	Ssm	10	232	4.3%	cbioportal
7	LRRK2	Ssm	10	232	4.3%	cbioportal
15	XIRP2	Ssm	9	232	3.9%	cbioportal
14	UBA1	Ssm	9	232	3.9%	cbioportal
13	RYR2	Ssm	9	232	3.9%	cbioportal
12	REV3L	Ssm	9	232	3.9%	cbioportal
11	HUWE1	Ssm	9	232	3.9%	cbioportal
10	ERBB2	Ssm	9	232	3.9%	cbioportal
16	ZFHX4	Ssm	9	232	3.9%	cbioportal
18	CSMD1	Ssm	8	232	3.4%	cbioportal
19	CSMD3	Ssm	8	232	3.4%	cbioportal
17	BIRC6	Ssm	8	232	3.4%	cbioportal
20	LRP1B	Ssm	8	232	3.4%	cbioportal
27	GLUD2	Ssm	7	232	3%	cbioportal
28	MET	Ssm	7	232	3%	cbioportal
21	AR	Ssm	7	232	3%	cbioportal
23	ARID2	Ssm	7	232	3%	cbioportal
24	DNAH5	Ssm	7	232	3%	cbioportal
25	FBN2	Ssm	7	232	3%	cbioportal
26	FSIP2	Ssm	7	232	3%	cbioportal
22	ARID1A	Ssm	7	232	3%	cbioportal
30	ADGRV1	Ssm	6	232	2.6%	cbioportal
29	ADGRG4	Ssm	6	232	2.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Lung Squamous Cell Carcinoma TCGA-LUSCTCGA

504 cases with simple somatic mutation data · 504 cases total · Data Release 46.0 · mapped to Lung Squamous Cell Carcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	453	504	89.9%	gdc
8	EPHB3	Ssm	444	504	88.1%	gdc
6	ATP11B	Ssm	444	504	88.1%	gdc
5	EEF1AKMT4-ECE2	Ssm	444	504	88.1%	gdc
4	ABCC5	Ssm	444	504	88.1%	gdc
3	KLHL6	Ssm	444	504	88.1%	gdc
2	DVL3	Ssm	444	504	88.1%	gdc
7	CCDC39	Ssm	444	504	88.1%	gdc
19	ABCF3	Ssm	443	504	87.9%	gdc
25	VPS8	Ssm	443	504	87.9%	gdc
24	EIF2B5	Ssm	443	504	87.9%	gdc
23	CHRD	Ssm	443	504	87.9%	gdc
22	MAP6D1	Ssm	443	504	87.9%	gdc
21	DCUN1D1	Ssm	443	504	87.9%	gdc
9	HTR3E	Ssm	443	504	87.9%	gdc
10	ACTRT3	Ssm	443	504	87.9%	gdc
11	HTR3C	Ssm	443	504	87.9%	gdc
12	MECOM	Ssm	443	504	87.9%	gdc
13	SOX2	Ssm	443	504	87.9%	gdc
14	PARL	Ssm	443	504	87.9%	gdc
15	AC131160.1	Ssm	443	504	87.9%	gdc
16	MAGEF1	Ssm	443	504	87.9%	gdc
17	ZBBX	Ssm	443	504	87.9%	gdc
18	TNIK	Ssm	443	504	87.9%	gdc
20	CLCN2	Ssm	443	504	87.9%	gdc
26	FNDC3B	Ssm	443	504	87.9%	gdc
28	USP13	Ssm	442	504	87.7%	gdc
30	EIF4G1	Ssm	442	504	87.7%	gdc
29	SAMD7	Ssm	442	504	87.7%	gdc
27	LAMP3	Ssm	442	504	87.7%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Lung Squamous Cell Carcinoma (CPTAC, Cell 2021) lusc_cptac_2021CPTAC

108 cases with simple somatic mutation data · 80 cases total · 2026-01-16 · mapped to Lung Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	102	108	94.4%	cbioportal
2	TTN	Ssm	74	108	68.5%	cbioportal
3	CSMD3	Ssm	51	108	47.2%	cbioportal
4	USH2A	Ssm	43	108	39.8%	cbioportal
5	RYR2	Ssm	40	108	37%	cbioportal
6	ZFHX4	Ssm	40	108	37%	cbioportal
7	LRP1B	Ssm	34	108	31.5%	cbioportal
8	SYNE1	Ssm	34	108	31.5%	cbioportal
10	MUC16	Ssm	33	108	30.6%	cbioportal
9	FAM135B	Ssm	33	108	30.6%	cbioportal
11	DNAH5	Ssm	26	108	24.1%	cbioportal
12	KMT2D	Ssm	26	108	24.1%	cbioportal
13	PCDH15	Ssm	25	108	23.1%	cbioportal
14	COL22A1	Ssm	23	108	21.3%	cbioportal
15	COL11A1	Ssm	22	108	20.4%	cbioportal
16	FSIP2	Ssm	22	108	20.4%	cbioportal
19	FAT3	Ssm	21	108	19.4%	cbioportal
18	CDH10	Ssm	21	108	19.4%	cbioportal
17	ADAMTS12	Ssm	21	108	19.4%	cbioportal
20	OBSCN	Ssm	21	108	19.4%	cbioportal
21	RYR3	Ssm	21	108	19.4%	cbioportal
22	XIRP2	Ssm	21	108	19.4%	cbioportal
25	FLG	Ssm	20	108	18.5%	cbioportal
27	PCLO	Ssm	20	108	18.5%	cbioportal
28	UNC80	Ssm	20	108	18.5%	cbioportal
23	CSMD2	Ssm	20	108	18.5%	cbioportal
24	EYS	Ssm	20	108	18.5%	cbioportal
26	NAV3	Ssm	20	108	18.5%	cbioportal
30	ERICH3	Ssm	19	108	17.6%	cbioportal
29	CUBN	Ssm	19	108	17.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Lung Squamous Cell Carcinoma (CPTAC GDC, 2025) lusc_cptac_gdcCPTAC GDC

110 cases with simple somatic mutation data · 110 cases total · 2026-01-14 · mapped to Lung Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	101	110	91.8%	cbioportal
2	TTN	Ssm	72	110	65.5%	cbioportal
4	USH2A	Ssm	42	110	38.2%	cbioportal
3	CSMD3	Ssm	42	110	38.2%	cbioportal
5	RYR2	Ssm	39	110	35.5%	cbioportal
6	ZFHX4	Ssm	34	110	30.9%	cbioportal
7	MUC16	Ssm	33	110	30%	cbioportal
8	SYNE1	Ssm	32	110	29.1%	cbioportal
9	LRP1B	Ssm	31	110	28.2%	cbioportal
10	FAM135B	Ssm	28	110	25.5%	cbioportal
11	KMT2D	Ssm	26	110	23.6%	cbioportal
13	FSIP2	Ssm	24	110	21.8%	cbioportal
12	DNAH5	Ssm	24	110	21.8%	cbioportal
14	COL22A1	Ssm	22	110	20%	cbioportal
16	PCLO	Ssm	21	110	19.1%	cbioportal
15	COL11A1	Ssm	21	110	19.1%	cbioportal
18	MUC19	Ssm	20	110	18.2%	cbioportal
17	LRTM3	Ssm	20	110	18.2%	cbioportal
22	PCDH15	Ssm	19	110	17.3%	cbioportal
21	EYS	Ssm	19	110	17.3%	cbioportal
20	CTNND2	Ssm	19	110	17.3%	cbioportal
19	CDH10	Ssm	19	110	17.3%	cbioportal
24	RYR3	Ssm	19	110	17.3%	cbioportal
23	PRDM9	Ssm	19	110	17.3%	cbioportal
25	XIRP2	Ssm	19	110	17.3%	cbioportal
28	CUBN	Ssm	18	110	16.4%	cbioportal
26	ADAMTS12	Ssm	18	110	16.4%	cbioportal
27	CDKN2A	Ssm	18	110	16.4%	cbioportal
29	NAV3	Ssm	18	110	16.4%	cbioportal
30	PKHD1L1	Ssm	18	110	16.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Lung Squamous Cell Carcinoma (TCGA, Firehose Legacy) lusc_tcgaTCGA

178 cases with simple somatic mutation data · 511 cases total · 2026-01-07 · mapped to Lung Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	145	178	81.5%	cbioportal
2	TTN	Ssm	126	178	70.8%	cbioportal
4	RYR2	Ssm	77	178	43.3%	cbioportal
3	MUC16	Ssm	77	178	43.3%	cbioportal
5	LRP1B	Ssm	69	178	38.8%	cbioportal
6	USH2A	Ssm	68	178	38.2%	cbioportal
7	ZFHX4	Ssm	65	178	36.5%	cbioportal
8	ADAM6	Ssm	53	178	29.8%	cbioportal
9	SYNE1	Ssm	52	178	29.2%	cbioportal
10	RYR3	Ssm	42	178	23.6%	cbioportal
11	SPTA1	Ssm	40	178	22.5%	cbioportal
12	DNAH11	Ssm	39	178	21.9%	cbioportal
15	PKHD1	Ssm	37	178	20.8%	cbioportal
13	FAM135B	Ssm	37	178	20.8%	cbioportal
14	KMT2D	Ssm	37	178	20.8%	cbioportal
16	COL11A1	Ssm	36	178	20.2%	cbioportal
17	FLG	Ssm	36	178	20.2%	cbioportal
18	PKHD1L1	Ssm	36	178	20.2%	cbioportal
19	SI	Ssm	36	178	20.2%	cbioportal
22	NAV3	Ssm	34	178	19.1%	cbioportal
21	MUC5B	Ssm	34	178	19.1%	cbioportal
20	ERICH3	Ssm	34	178	19.1%	cbioportal
23	CUBN	Ssm	33	178	18.5%	cbioportal
27	ZNF536	Ssm	33	178	18.5%	cbioportal
26	XIRP2	Ssm	33	178	18.5%	cbioportal
25	TENM1	Ssm	33	178	18.5%	cbioportal
24	LRP2	Ssm	33	178	18.5%	cbioportal
28	CSMD1	Ssm	32	178	18%	cbioportal
29	ADGRV1	Ssm	31	178	17.4%	cbioportal
30	CDH10	Ssm	31	178	17.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Lung Squamous Cell Carcinoma (TCGA GDC, 2025) lusc_tcga_gdcTCGA GDC

484 cases with simple somatic mutation data · 503 cases total · 2026-01-13 · mapped to Lung Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	408	484	84.3%	cbioportal
2	TTN	Ssm	340	484	70.2%	cbioportal
3	CSMD3	Ssm	205	484	42.4%	cbioportal
4	MUC16	Ssm	187	484	38.6%	cbioportal
5	RYR2	Ssm	179	484	37%	cbioportal
6	LRP1B	Ssm	160	484	33.1%	cbioportal
7	USH2A	Ssm	156	484	32.2%	cbioportal
8	SYNE1	Ssm	148	484	30.6%	cbioportal
9	ZFHX4	Ssm	142	484	29.3%	cbioportal
10	FAM135B	Ssm	112	484	23.1%	cbioportal
11	KMT2D	Ssm	105	484	21.7%	cbioportal
12	NAV3	Ssm	101	484	20.9%	cbioportal
13	XIRP2	Ssm	95	484	19.6%	cbioportal
14	CDH10	Ssm	93	484	19.2%	cbioportal
15	RYR3	Ssm	93	484	19.2%	cbioportal
16	SPTA1	Ssm	93	484	19.2%	cbioportal
17	PKHD1	Ssm	90	484	18.6%	cbioportal
18	PCDH15	Ssm	89	484	18.4%	cbioportal
19	PCLO	Ssm	87	484	18%	cbioportal
20	PAPPA2	Ssm	86	484	17.8%	cbioportal
21	DNAH5	Ssm	84	484	17.4%	cbioportal
22	DNAH8	Ssm	84	484	17.4%	cbioportal
23	PKHD1L1	Ssm	83	484	17.1%	cbioportal
24	MUC17	Ssm	80	484	16.5%	cbioportal
25	FLG	Ssm	79	484	16.3%	cbioportal
27	HCN1	Ssm	78	484	16.1%	cbioportal
26	ADAMTS12	Ssm	78	484	16.1%	cbioportal
28	ERICH3	Ssm	77	484	15.9%	cbioportal
29	SI	Ssm	77	484	15.9%	cbioportal
30	COL11A1	Ssm	76	484	15.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Lung Squamous Cell Carcinoma (TCGA, Nature 2012) lusc_tcga_pubTCGA

178 cases with simple somatic mutation data · 178 cases total · 2026-02-19 · mapped to Lung Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	149	178	83.7%	cbioportal
2	TTN	Ssm	129	178	72.5%	cbioportal
3	CSMD3	Ssm	80	178	44.9%	cbioportal
4	RYR2	Ssm	78	178	43.8%	cbioportal
5	MUC16	Ssm	74	178	41.6%	cbioportal
7	ZFHX4	Ssm	68	178	38.2%	cbioportal
6	LRP1B	Ssm	68	178	38.2%	cbioportal
8	USH2A	Ssm	67	178	37.6%	cbioportal
9	SYNE1	Ssm	52	178	29.2%	cbioportal
10	RYR3	Ssm	49	178	27.5%	cbioportal
12	FLG	Ssm	40	178	22.5%	cbioportal
11	DNAH11	Ssm	40	178	22.5%	cbioportal
15	SPTA1	Ssm	39	178	21.9%	cbioportal
14	PKHD1	Ssm	39	178	21.9%	cbioportal
13	FAM135B	Ssm	39	178	21.9%	cbioportal
16	PKHD1L1	Ssm	38	178	21.3%	cbioportal
17	KMT2D	Ssm	37	178	20.8%	cbioportal
18	SI	Ssm	37	178	20.8%	cbioportal
19	COL11A1	Ssm	36	178	20.2%	cbioportal
20	NAV3	Ssm	36	178	20.2%	cbioportal
21	LRP2	Ssm	35	178	19.7%	cbioportal
22	XIRP2	Ssm	35	178	19.7%	cbioportal
25	MUC17	Ssm	34	178	19.1%	cbioportal
23	ERICH3	Ssm	34	178	19.1%	cbioportal
24	HCN1	Ssm	34	178	19.1%	cbioportal
27	CDH10	Ssm	33	178	18.5%	cbioportal
26	AHNAK2	Ssm	33	178	18.5%	cbioportal
30	DNAH5	Ssm	33	178	18.5%	cbioportal
29	CUBN	Ssm	33	178	18.5%	cbioportal
28	CSMD1	Ssm	33	178	18.5%	cbioportal

Data updated 22 days agoSource updated 2026-02-19

Lung Squamous Cell Carcinoma (TCGA, PanCancer Atlas) lusc_tcga_pan_can_atlas_2018TCGA

484 cases with simple somatic mutation data · 487 cases total · 2026-06-04 · mapped to Lung Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	404	484	83.5%	cbioportal
2	TTN	Ssm	345	484	71.3%	cbioportal
3	CSMD3	Ssm	209	484	43.2%	cbioportal
4	RYR2	Ssm	192	484	39.7%	cbioportal
5	MUC16	Ssm	188	484	38.8%	cbioportal
6	LRP1B	Ssm	171	484	35.3%	cbioportal
7	USH2A	Ssm	160	484	33.1%	cbioportal
8	SYNE1	Ssm	151	484	31.2%	cbioportal
9	ZFHX4	Ssm	143	484	29.5%	cbioportal
10	FAM135B	Ssm	118	484	24.4%	cbioportal
11	KMT2D	Ssm	111	484	22.9%	cbioportal
12	NAV3	Ssm	104	484	21.5%	cbioportal
13	RYR3	Ssm	99	484	20.5%	cbioportal
15	SPTA1	Ssm	97	484	20%	cbioportal
14	CDH10	Ssm	97	484	20%	cbioportal
16	DNAH5	Ssm	93	484	19.2%	cbioportal
17	PCDH15	Ssm	93	484	19.2%	cbioportal
18	XIRP2	Ssm	93	484	19.2%	cbioportal
19	PKHD1L1	Ssm	91	484	18.8%	cbioportal
20	PAPPA2	Ssm	89	484	18.4%	cbioportal
21	PCLO	Ssm	88	484	18.2%	cbioportal
22	PKHD1	Ssm	87	484	18%	cbioportal
25	FLG	Ssm	84	484	17.4%	cbioportal
24	ERICH3	Ssm	84	484	17.4%	cbioportal
26	SI	Ssm	84	484	17.4%	cbioportal
23	COL11A1	Ssm	84	484	17.4%	cbioportal
29	RYR1	Ssm	83	484	17.1%	cbioportal
28	DNAH8	Ssm	83	484	17.1%	cbioportal
27	COL22A1	Ssm	83	484	17.1%	cbioportal
30	CSMD1	Ssm	82	484	16.9%	cbioportal

Data updated 22 days agoSource updated 2026-06-04

Lymphoid Neoplasm Diffuse Large B-cell Lymphoma TCGA-DLBCTCGA

50 cases with simple somatic mutation data · 58 cases total · Data Release 46.0 · mapped to Diffuse Large B-Cell Lymphoma CURATED_BROADER

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BTG2	Ssm	29	50	58%	gdc
3	TUBB8B	Ssm	23	50	46%	gdc
2	MTRNR2L6	Ssm	23	50	46%	gdc
8	CSMD1	Ssm	22	50	44%	gdc
7	KLHL6	Ssm	22	50	44%	gdc
6	GPR149	Ssm	22	50	44%	gdc
5	BCL6	Ssm	22	50	44%	gdc
4	LAMA1	Ssm	22	50	44%	gdc
9	DSEL	Ssm	22	50	44%	gdc
10	ASPM	Ssm	22	50	44%	gdc
23	PRSS2	Ssm	21	50	42%	gdc
25	PRSS1	Ssm	21	50	42%	gdc
26	THOC1	Ssm	21	50	42%	gdc
27	TYMS	Ssm	21	50	42%	gdc
28	ADCYAP1	Ssm	21	50	42%	gdc
29	USP14	Ssm	21	50	42%	gdc
30	ASXL3	Ssm	21	50	42%	gdc
24	ABCA13	Ssm	21	50	42%	gdc
22	ENOSF1	Ssm	21	50	42%	gdc
21	AHR	Ssm	21	50	42%	gdc
20	YES1	Ssm	21	50	42%	gdc
19	BCL2	Ssm	21	50	42%	gdc
18	TPTE	Ssm	21	50	42%	gdc
17	CETN1	Ssm	21	50	42%	gdc
16	COLEC12	Ssm	21	50	42%	gdc
15	CLUL1	Ssm	21	50	42%	gdc
14	SALL3	Ssm	21	50	42%	gdc
13	KALRN	Ssm	21	50	42%	gdc
12	TBL1XR1	Ssm	21	50	42%	gdc
11	POTEC	Ssm	21	50	42%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Lymphoid Neoplasm Diffuse Large B-cell Lymphoma (TCGA, Firehose Legacy) dlbc_tcgaTCGA

48 cases with simple somatic mutation data · 48 cases total · 2026-01-07 · mapped to Diffuse Large B-Cell Lymphoma Unclassifiable EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IGLL5	Ssm	17	48	35.4%	cbioportal
2	MUC4	Ssm	15	48	31.3%	cbioportal
4	MUC2	Ssm	14	48	29.2%	cbioportal
3	KMT2D	Ssm	14	48	29.2%	cbioportal
5	B2M	Ssm	13	48	27.1%	cbioportal
6	BTG2	Ssm	13	48	27.1%	cbioportal
7	MUC16	Ssm	11	48	22.9%	cbioportal
11	SYNE1	Ssm	10	48	20.8%	cbioportal
10	PIM1	Ssm	10	48	20.8%	cbioportal
12	TTN	Ssm	10	48	20.8%	cbioportal
8	CARD11	Ssm	10	48	20.8%	cbioportal
9	FAT4	Ssm	10	48	20.8%	cbioportal
14	MUC5B	Ssm	9	48	18.8%	cbioportal
13	H1-4	Ssm	9	48	18.8%	cbioportal
16	P2RY8	Ssm	8	48	16.7%	cbioportal
17	PCLO	Ssm	8	48	16.7%	cbioportal
15	CSMD3	Ssm	8	48	16.7%	cbioportal
24	KLHL6	Ssm	7	48	14.6%	cbioportal
25	LRP1B	Ssm	7	48	14.6%	cbioportal
26	LRP2	Ssm	7	48	14.6%	cbioportal
27	MUC17	Ssm	7	48	14.6%	cbioportal
29	OBSCN	Ssm	7	48	14.6%	cbioportal
21	FAT1	Ssm	7	48	14.6%	cbioportal
20	DMBT1	Ssm	7	48	14.6%	cbioportal
19	BTG1	Ssm	7	48	14.6%	cbioportal
18	ATM	Ssm	7	48	14.6%	cbioportal
28	MYD88	Ssm	7	48	14.6%	cbioportal
30	RHPN2	Ssm	7	48	14.6%	cbioportal
22	H1-2	Ssm	7	48	14.6%	cbioportal
23	HLA-C	Ssm	7	48	14.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Malignant Peripheral Nerve Sheath Tumor (MSK, Nat Genet 2014) mpnst_mskccMSK

15 cases with simple somatic mutation data · 15 cases total · 2026-01-08 · mapped to Malignant Peripheral Nerve Sheath Tumor EXACT_IDENTIFIER

cbioportalObserved19 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	EED	Ssm	5	15	33.3%	cbioportal
2	NF1	Ssm	4	15	26.7%	cbioportal
6	TP53	Ssm	2	15	13.3%	cbioportal
3	BCL2L1	Ssm	2	15	13.3%	cbioportal
4	DAXX	Ssm	2	15	13.3%	cbioportal
5	HNF1A	Ssm	2	15	13.3%	cbioportal
10	IKBKE	Ssm	1	15	6.7%	cbioportal
12	MTOR	Ssm	1	15	6.7%	cbioportal
13	MUTYH	Ssm	1	15	6.7%	cbioportal
14	NCOR1	Ssm	1	15	6.7%	cbioportal
15	PIK3C2G	Ssm	1	15	6.7%	cbioportal
16	PIK3CA	Ssm	1	15	6.7%	cbioportal
17	PTCH1	Ssm	1	15	6.7%	cbioportal
18	RB1	Ssm	1	15	6.7%	cbioportal
19	SUFU	Ssm	1	15	6.7%	cbioportal
7	BRCA2	Ssm	1	15	6.7%	cbioportal
8	FLT4	Ssm	1	15	6.7%	cbioportal
9	HGF	Ssm	1	15	6.7%	cbioportal
11	IKZF1	Ssm	1	15	6.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Mantle Cell Lymphoma (IDIBIPS, PNAS 2013) mcl_idibips_2013IDIBIPS

29 cases with simple somatic mutation data · 29 cases total · 2026-01-08 · mapped to Mantle Cell Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ATM	Ssm	12	29	41.4%	cbioportal
2	CCND1	Ssm	10	29	34.5%	cbioportal
3	TP53	Ssm	6	29	20.7%	cbioportal
5	NSD2	Ssm	4	29	13.8%	cbioportal
4	KMT2D	Ssm	4	29	13.8%	cbioportal
29	UNC80	Ssm	2	29	6.9%	cbioportal
6	ABCC9	Ssm	2	29	6.9%	cbioportal
7	BIRC3	Ssm	2	29	6.9%	cbioportal
8	CHMP4C	Ssm	2	29	6.9%	cbioportal
9	CRYBG3	Ssm	2	29	6.9%	cbioportal
10	CSMD2	Ssm	2	29	6.9%	cbioportal
11	DCP1B	Ssm	2	29	6.9%	cbioportal
12	DLGAP2	Ssm	2	29	6.9%	cbioportal
13	DNAJC6	Ssm	2	29	6.9%	cbioportal
14	FLNC	Ssm	2	29	6.9%	cbioportal
15	KIAA1671	Ssm	2	29	6.9%	cbioportal
16	LUZP4	Ssm	2	29	6.9%	cbioportal
17	MEF2B	Ssm	2	29	6.9%	cbioportal
18	PCSK2	Ssm	2	29	6.9%	cbioportal
19	RGS4	Ssm	2	29	6.9%	cbioportal
20	SLC17A6	Ssm	2	29	6.9%	cbioportal
21	SP140	Ssm	2	29	6.9%	cbioportal
22	SYNE1	Ssm	2	29	6.9%	cbioportal
23	TAS2R41	Ssm	2	29	6.9%	cbioportal
24	TLR2	Ssm	2	29	6.9%	cbioportal
25	TNRC6B	Ssm	2	29	6.9%	cbioportal
26	TRPM6	Ssm	2	29	6.9%	cbioportal
27	TTN	Ssm	2	29	6.9%	cbioportal
28	UBR5	Ssm	2	29	6.9%	cbioportal
30	ABCA10	Ssm	1	29	3.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

MAPK on resistance to anti-HER2 therapy for breast cancer (MSK, Nat Commun. 2022) brca_mapk_hp_msk_2021MSK

145 cases with simple somatic mutation data · 145 cases total · 2026-04-07 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	88	145	60.7%	cbioportal
2	PIK3CA	Ssm	42	145	29%	cbioportal
3	GATA3	Ssm	17	145	11.7%	cbioportal
4	CDH1	Ssm	12	145	8.3%	cbioportal
5	ERBB2	Ssm	11	145	7.6%	cbioportal
6	NF1	Ssm	10	145	6.9%	cbioportal
8	TBX3	Ssm	9	145	6.2%	cbioportal
7	KMT2C	Ssm	9	145	6.2%	cbioportal
9	ARID2	Ssm	8	145	5.5%	cbioportal
10	ARID1A	Ssm	7	145	4.8%	cbioportal
12	ERBB3	Ssm	7	145	4.8%	cbioportal
14	RARA	Ssm	7	145	4.8%	cbioportal
13	PTPRD	Ssm	7	145	4.8%	cbioportal
11	ATM	Ssm	7	145	4.8%	cbioportal
15	KMT2D	Ssm	6	145	4.1%	cbioportal
23	ZFHX3	Ssm	5	122	4.1%	cbioportal
18	PIK3R1	Ssm	5	145	3.4%	cbioportal
17	FAT1	Ssm	5	145	3.4%	cbioportal
16	ALK	Ssm	5	145	3.4%	cbioportal
22	TET1	Ssm	5	145	3.4%	cbioportal
20	RECQL4	Ssm	5	145	3.4%	cbioportal
21	RUNX1	Ssm	5	145	3.4%	cbioportal
19	PTEN	Ssm	5	145	3.4%	cbioportal
25	EPHA5	Ssm	4	145	2.8%	cbioportal
26	ESR1	Ssm	4	145	2.8%	cbioportal
28	NCOR1	Ssm	4	145	2.8%	cbioportal
29	NOTCH4	Ssm	4	145	2.8%	cbioportal
30	PTPRS	Ssm	4	145	2.8%	cbioportal
24	BRD4	Ssm	4	145	2.8%	cbioportal
27	KMT2A	Ssm	4	145	2.8%	cbioportal

Data updated 22 days agoSource updated 2026-04-07

Mature B-cell malignancies (MD Anderson Cancer Center) mbn_mdacc_2013MD Anderson Cancer Center

755 cases with simple somatic mutation data · 760 cases total · 2026-01-08 · mapped to B-Cell Non-Hodgkin Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KMT2D	Ssm	247	755	32.7%	cbioportal
2	CREBBP	Ssm	180	755	23.8%	cbioportal
3	BCL2	Ssm	153	755	20.3%	cbioportal
4	NEB	Ssm	123	755	16.3%	cbioportal
5	ATM	Ssm	116	755	15.4%	cbioportal
6	LRP1B	Ssm	96	755	12.7%	cbioportal
7	TP53	Ssm	91	755	12.1%	cbioportal
8	MYC	Ssm	82	755	10.9%	cbioportal
9	ARID1A	Ssm	80	755	10.6%	cbioportal
10	HERC2	Ssm	78	755	10.3%	cbioportal
11	TNFRSF14	Ssm	77	755	10.2%	cbioportal
12	CSMD1	Ssm	70	755	9.3%	cbioportal
13	CSMD3	Ssm	69	755	9.1%	cbioportal
14	PIM1	Ssm	66	755	8.7%	cbioportal
15	FAT1	Ssm	65	755	8.6%	cbioportal
16	EZH2	Ssm	64	755	8.5%	cbioportal
17	RYR2	Ssm	64	755	8.5%	cbioportal
18	PIEZO1	Ssm	63	755	8.3%	cbioportal
19	CARD11	Ssm	62	755	8.2%	cbioportal
20	IGLV5-45	Ssm	58	755	7.7%	cbioportal
22	EP300	Ssm	56	755	7.4%	cbioportal
21	CCND3	Ssm	56	755	7.4%	cbioportal
23	HMCN1	Ssm	56	755	7.4%	cbioportal
24	SMARCA4	Ssm	55	755	7.3%	cbioportal
25	HYDIN	Ssm	54	755	7.2%	cbioportal
26	RYR3	Ssm	54	755	7.2%	cbioportal
27	DCHS2	Ssm	53	755	7%	cbioportal
28	DST	Ssm	53	755	7%	cbioportal
29	BCL7A	Ssm	52	755	6.9%	cbioportal
30	EPPK1	Ssm	52	755	6.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Mature B-Cell Neoplasms (Simon Fraser University, Blood 2023) mbn_sfu_2023Simon Fraser University

297 cases with simple somatic mutation data · 297 cases total · 2026-02-10 · mapped to B-Cell Non-Hodgkin Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MYC	Ssm	156	297	52.5%	cbioportal
2	DDX3X	Ssm	124	297	41.8%	cbioportal
3	ID3	Ssm	115	297	38.7%	cbioportal
4	TP53	Ssm	110	297	37%	cbioportal
5	ARID1A	Ssm	95	297	32%	cbioportal
6	FOXO1	Ssm	72	297	24.2%	cbioportal
7	IGLL5	Ssm	71	297	23.9%	cbioportal
8	CNTNAP3B	Ssm	70	297	23.6%	cbioportal
9	CCND3	Ssm	68	297	22.9%	cbioportal
10	IGLV3-1	Ssm	60	297	20.2%	cbioportal
11	GNA13	Ssm	57	297	19.2%	cbioportal
12	GARIN4	Ssm	55	297	18.5%	cbioportal
13	FBXO11	Ssm	53	297	17.8%	cbioportal
14	TTN	Ssm	52	297	17.5%	cbioportal
15	GP6	Ssm	49	297	16.5%	cbioportal
16	AKAP10	Ssm	47	297	15.8%	cbioportal
17	MAP3K9	Ssm	47	297	15.8%	cbioportal
18	IGHV2-70D	Ssm	43	297	14.5%	cbioportal
20	SMARCA4	Ssm	42	297	14.1%	cbioportal
19	FRG2C	Ssm	42	297	14.1%	cbioportal
23	ZNF701	Ssm	42	297	14.1%	cbioportal
22	SPATA31A6	Ssm	42	297	14.1%	cbioportal
21	SMPD1	Ssm	42	297	14.1%	cbioportal
24	IGHV2-70	Ssm	41	297	13.8%	cbioportal
25	L1TD1	Ssm	41	297	13.8%	cbioportal
27	MUC16	Ssm	39	297	13.1%	cbioportal
26	IGLV4-60	Ssm	39	297	13.1%	cbioportal
29	MPEG1	Ssm	38	297	12.8%	cbioportal
28	LRRC4B	Ssm	38	297	12.8%	cbioportal
30	FAT4	Ssm	37	297	12.5%	cbioportal

Data updated 22 days agoSource updated 2026-02-10

Mature T and NK Neoplasms (MSK, Blood Adv 2023) mtnn_msk_2022MSK

132 cases with simple somatic mutation data · 132 cases total · 2026-01-08 · mapped to T-Cell Non-Hodgkin Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TET2	Ssm	68	132	51.5%	cbioportal
2	RHOA	Ssm	40	131	30.5%	cbioportal
3	DNMT3A	Ssm	25	132	18.9%	cbioportal
4	TP53	Ssm	21	132	15.9%	cbioportal
5	IDH2	Ssm	15	132	11.4%	cbioportal
8	PLCG1	Ssm	8	102	7.8%	cbioportal
6	FAT1	Ssm	10	131	7.6%	cbioportal
7	STAT3	Ssm	10	131	7.6%	cbioportal
9	SETD2	Ssm	8	131	6.1%	cbioportal
12	POT1	Ssm	6	102	5.9%	cbioportal
10	FAS	Ssm	6	102	5.9%	cbioportal
14	KSR2	Ssm	5	102	4.9%	cbioportal
16	VAV1	Ssm	5	102	4.9%	cbioportal
11	KMT2D	Ssm	6	131	4.6%	cbioportal
29	TET3	Ssm	4	102	3.9%	cbioportal
27	ROBO1	Ssm	4	102	3.9%	cbioportal
20	DDX3X	Ssm	4	102	3.9%	cbioportal
15	STAT5B	Ssm	5	131	3.8%	cbioportal
13	JAK1	Ssm	5	132	3.8%	cbioportal
187	PTPRT	Ssm	1	29	3.4%	cbioportal
186	PTPRS	Ssm	1	29	3.4%	cbioportal
192	RIT1	Ssm	1	29	3.4%	cbioportal
131	ERCC2	Ssm	1	29	3.4%	cbioportal
148	H3-4	Ssm	1	29	3.4%	cbioportal
158	LATS2	Ssm	1	29	3.4%	cbioportal
168	NCOA3	Ssm	1	29	3.4%	cbioportal
26	RARA	Ssm	4	131	3.1%	cbioportal
19	CREBBP	Ssm	4	131	3.1%	cbioportal
21	EPHA3	Ssm	4	131	3.1%	cbioportal
22	GRIN2A	Ssm	4	131	3.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Medulloblastoma (Broad, Nature 2012) mbl_broad_2012Broad

92 cases with simple somatic mutation data · 92 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KMT2D	Ssm	8	92	8.7%	cbioportal
2	DDX3X	Ssm	7	92	7.6%	cbioportal
3	CTNNB1	Ssm	6	92	6.5%	cbioportal
4	PTCH1	Ssm	6	92	6.5%	cbioportal
7	SMARCA4	Ssm	4	92	4.3%	cbioportal
6	KMT2C	Ssm	4	92	4.3%	cbioportal
5	ABCA13	Ssm	4	92	4.3%	cbioportal
8	BCOR	Ssm	3	92	3.3%	cbioportal
17	TTN	Ssm	3	92	3.3%	cbioportal
15	SPTB	Ssm	3	92	3.3%	cbioportal
11	KDM6A	Ssm	3	92	3.3%	cbioportal
12	LAMA5	Ssm	3	92	3.3%	cbioportal
13	MAN2C1	Ssm	3	92	3.3%	cbioportal
16	TP53	Ssm	3	92	3.3%	cbioportal
14	PLXNA2	Ssm	3	92	3.3%	cbioportal
9	EPPK1	Ssm	3	92	3.3%	cbioportal
10	GPS2	Ssm	3	92	3.3%	cbioportal
29	CSF2RA	Ssm	2	92	2.2%	cbioportal
25	AHNAK	Ssm	2	92	2.2%	cbioportal
24	ADH7	Ssm	2	92	2.2%	cbioportal
23	ADGRE2	Ssm	2	92	2.2%	cbioportal
22	ADD2	Ssm	2	92	2.2%	cbioportal
21	ADAMTS12	Ssm	2	92	2.2%	cbioportal
20	ABCC6	Ssm	2	92	2.2%	cbioportal
19	ABCA8	Ssm	2	92	2.2%	cbioportal
18	ABCA2	Ssm	2	92	2.2%	cbioportal
54	NAV3	Ssm	2	92	2.2%	cbioportal
26	ASAP3	Ssm	2	92	2.2%	cbioportal
27	BAIAP3	Ssm	2	92	2.2%	cbioportal
28	CLEC12B	Ssm	2	92	2.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Medulloblastoma (DKFZ, Nature 2017) mbl_dkfz_2017DKFZ

491 cases with simple somatic mutation data · 491 cases total · 2026-01-16 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTCH1	Ssm	51	491	10.4%	cbioportal
2	TERT	Ssm	50	491	10.2%	cbioportal
3	DDX3X	Ssm	43	491	8.8%	cbioportal
4	KMT2D	Ssm	34	491	6.9%	cbioportal
5	CTNNB1	Ssm	32	491	6.5%	cbioportal
6	KMT2C	Ssm	29	491	5.9%	cbioportal
7	SMARCA4	Ssm	25	491	5.1%	cbioportal
8	TTN	Ssm	23	491	4.7%	cbioportal
9	KBTBD4	Ssm	19	491	3.9%	cbioportal
11	MUC16	Ssm	17	491	3.5%	cbioportal
10	KDM6A	Ssm	17	491	3.5%	cbioportal
12	TP53	Ssm	17	491	3.5%	cbioportal
13	CREBBP	Ssm	15	491	3.1%	cbioportal
14	ZMYM3	Ssm	14	491	2.9%	cbioportal
15	SMO	Ssm	13	491	2.6%	cbioportal
16	TCF4	Ssm	12	491	2.4%	cbioportal
17	ZIC1	Ssm	12	491	2.4%	cbioportal
19	NIN	Ssm	11	491	2.2%	cbioportal
20	NME5	Ssm	11	491	2.2%	cbioportal
18	CDK1	Ssm	11	491	2.2%	cbioportal
22	GSE1	Ssm	10	491	2%	cbioportal
23	LAMA2	Ssm	10	491	2%	cbioportal
24	RSBN1L	Ssm	10	491	2%	cbioportal
21	FBXW7	Ssm	10	491	2%	cbioportal
25	CTDNEP1	Ssm	9	491	1.8%	cbioportal
26	PIK3CA	Ssm	9	491	1.8%	cbioportal
29	RYR3	Ssm	8	491	1.6%	cbioportal
28	MUC17	Ssm	8	491	1.6%	cbioportal
27	BCOR	Ssm	8	491	1.6%	cbioportal
30	ARID1A	Ssm	7	491	1.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Medulloblastoma (ICGC, Nature 2012) mbl_icgcICGC

125 cases with simple somatic mutation data · 125 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CTNNB1	Ssm	15	125	12%	cbioportal
2	DDX3X	Ssm	10	125	8%	cbioportal
3	PTCH1	Ssm	8	125	6.4%	cbioportal
5	SMARCA4	Ssm	6	125	4.8%	cbioportal
4	KMT2D	Ssm	6	125	4.8%	cbioportal
7	TP53	Ssm	5	125	4%	cbioportal
6	KDM6A	Ssm	5	125	4%	cbioportal
8	CTDNEP1	Ssm	4	125	3.2%	cbioportal
15	TRPC3	Ssm	3	125	2.4%	cbioportal
14	TLN2	Ssm	3	125	2.4%	cbioportal
11	FRAS1	Ssm	3	125	2.4%	cbioportal
9	CEP83	Ssm	3	125	2.4%	cbioportal
10	CUBN	Ssm	3	125	2.4%	cbioportal
13	NF1	Ssm	3	125	2.4%	cbioportal
12	KMT2C	Ssm	3	125	2.4%	cbioportal
29	CPAMD8	Ssm	2	125	1.6%	cbioportal
27	CLCN2	Ssm	2	125	1.6%	cbioportal
26	CDH10	Ssm	2	125	1.6%	cbioportal
25	CCAR1	Ssm	2	125	1.6%	cbioportal
16	ABCA4	Ssm	2	125	1.6%	cbioportal
18	ALPK2	Ssm	2	125	1.6%	cbioportal
19	ANGEL2	Ssm	2	125	1.6%	cbioportal
20	AOC3	Ssm	2	125	1.6%	cbioportal
21	ARID1B	Ssm	2	125	1.6%	cbioportal
22	BCLAF1	Ssm	2	125	1.6%	cbioportal
23	BCOR	Ssm	2	125	1.6%	cbioportal
24	CBFA2T2	Ssm	2	125	1.6%	cbioportal
17	AKAP11	Ssm	2	125	1.6%	cbioportal
30	DLG5	Ssm	2	125	1.6%	cbioportal
28	CLDN24	Ssm	2	125	1.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Medulloblastoma (PCGP, Nature 2012) mbl_pcgpPCGP

37 cases with simple somatic mutation data · 37 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	DDX3X	Ssm	4	37	10.8%	cbioportal
1	CTNNB1	Ssm	4	37	10.8%	cbioportal
3	CHD7	Ssm	3	37	8.1%	cbioportal
5	TTN	Ssm	3	37	8.1%	cbioportal
4	KDM6A	Ssm	3	37	8.1%	cbioportal
7	DEPDC5	Ssm	2	37	5.4%	cbioportal
18	ZMYM3	Ssm	2	37	5.4%	cbioportal
17	WDFY4	Ssm	2	37	5.4%	cbioportal
16	WDFY3	Ssm	2	37	5.4%	cbioportal
15	SF3B1	Ssm	2	37	5.4%	cbioportal
14	PFKP	Ssm	2	37	5.4%	cbioportal
13	IFIT3	Ssm	2	37	5.4%	cbioportal
12	GPAM	Ssm	2	37	5.4%	cbioportal
11	FCRL2	Ssm	2	37	5.4%	cbioportal
10	FAP	Ssm	2	37	5.4%	cbioportal
9	DYNC1H1	Ssm	2	37	5.4%	cbioportal
8	DNAH14	Ssm	2	37	5.4%	cbioportal
6	CACNA1D	Ssm	2	37	5.4%	cbioportal
24	ADAMTS20	Ssm	1	37	2.7%	cbioportal
30	ANKRD11	Ssm	1	37	2.7%	cbioportal
29	ALDH1L1	Ssm	1	37	2.7%	cbioportal
28	AKR1B10	Ssm	1	37	2.7%	cbioportal
27	AKAP9	Ssm	1	37	2.7%	cbioportal
26	AGGF1	Ssm	1	37	2.7%	cbioportal
25	ADGRB3	Ssm	1	37	2.7%	cbioportal
19	ABCA4	Ssm	1	37	2.7%	cbioportal
20	ABCB9	Ssm	1	37	2.7%	cbioportal
21	ABCG2	Ssm	1	37	2.7%	cbioportal
22	ABI3BP	Ssm	1	37	2.7%	cbioportal
23	ACAN	Ssm	1	37	2.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Medulloblastoma (Sickkids, Nature 2016) mbl_sickkids_2016Sickkids

46 cases with simple somatic mutation data · 46 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	9	46	19.6%	cbioportal
2	MUC4	Ssm	7	46	15.2%	cbioportal
3	TP53	Ssm	6	46	13%	cbioportal
4	CREBBP	Ssm	5	46	10.9%	cbioportal
5	MUC16	Ssm	5	46	10.9%	cbioportal
6	MUC6	Ssm	5	46	10.9%	cbioportal
7	TG	Ssm	5	46	10.9%	cbioportal
8	VWA5B2	Ssm	5	46	10.9%	cbioportal
9	ABCA13	Ssm	4	46	8.7%	cbioportal
18	VEPH1	Ssm	4	46	8.7%	cbioportal
17	USH2A	Ssm	4	46	8.7%	cbioportal
16	RYR3	Ssm	4	46	8.7%	cbioportal
15	PTCH1	Ssm	4	46	8.7%	cbioportal
14	MUC2	Ssm	4	46	8.7%	cbioportal
13	KMT2D	Ssm	4	46	8.7%	cbioportal
12	FRAS1	Ssm	4	46	8.7%	cbioportal
11	FBXW7	Ssm	4	46	8.7%	cbioportal
10	ALAS1	Ssm	4	46	8.7%	cbioportal
22	BDP1	Ssm	3	46	6.5%	cbioportal
23	BMPR2	Ssm	3	46	6.5%	cbioportal
25	CEMIP2	Ssm	3	46	6.5%	cbioportal
26	COL12A1	Ssm	3	46	6.5%	cbioportal
27	CR2	Ssm	3	46	6.5%	cbioportal
28	DCHS2	Ssm	3	46	6.5%	cbioportal
29	DDX3X	Ssm	3	46	6.5%	cbioportal
30	DMBT1	Ssm	3	46	6.5%	cbioportal
24	CAPN9	Ssm	3	46	6.5%	cbioportal
19	ABCA1	Ssm	3	46	6.5%	cbioportal
20	ARID2	Ssm	3	46	6.5%	cbioportal
21	ATR	Ssm	3	46	6.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Melanoma (Broad/Dana Farber, Nature 2012) skcm_broad_dfarberBroad/Dana Farber

26 cases with simple somatic mutation data · 26 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC4	Ssm	19	26	73.1%	cbioportal
2	TTN	Ssm	18	26	69.2%	cbioportal
3	MUC16	Ssm	17	26	65.4%	cbioportal
4	MUC17	Ssm	13	26	50%	cbioportal
7	DNAH8	Ssm	12	26	46.2%	cbioportal
5	BRAF	Ssm	12	26	46.2%	cbioportal
8	PCLO	Ssm	12	26	46.2%	cbioportal
6	DNAH5	Ssm	12	26	46.2%	cbioportal
9	KMT2C	Ssm	11	26	42.3%	cbioportal
10	PREX2	Ssm	11	26	42.3%	cbioportal
11	ANK3	Ssm	10	26	38.5%	cbioportal
13	TRIOBP	Ssm	10	26	38.5%	cbioportal
12	CSMD1	Ssm	10	26	38.5%	cbioportal
14	APOB	Ssm	9	26	34.6%	cbioportal
16	NRAS	Ssm	9	26	34.6%	cbioportal
15	FLG	Ssm	9	26	34.6%	cbioportal
18	DNAH7	Ssm	8	26	30.8%	cbioportal
29	ZAN	Ssm	8	26	30.8%	cbioportal
28	USH2A	Ssm	8	26	30.8%	cbioportal
27	SPHKAP	Ssm	8	26	30.8%	cbioportal
26	SCN1A	Ssm	8	26	30.8%	cbioportal
25	PRG4	Ssm	8	26	30.8%	cbioportal
24	NBPF1	Ssm	8	26	30.8%	cbioportal
23	MYO18B	Ssm	8	26	30.8%	cbioportal
22	MUC5B	Ssm	8	26	30.8%	cbioportal
21	MUC2	Ssm	8	26	30.8%	cbioportal
20	MST1	Ssm	8	26	30.8%	cbioportal
19	LRP1B	Ssm	8	26	30.8%	cbioportal
30	ZFHX4	Ssm	8	26	30.8%	cbioportal
17	ADGRV1	Ssm	8	26	30.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Melanoma (MSK, Cell 2017) - iAtlas Harmonized mel_iatlas_riaz_nivolumab_2017

73 cases with simple somatic mutation data · 107 cases total · 2026-02-11 · mapped to Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC16	Ssm	36	73	49.3%	cbioportal
2	TTN	Ssm	35	73	47.9%	cbioportal
4	PCLO	Ssm	25	73	34.2%	cbioportal
3	BRAF	Ssm	25	73	34.2%	cbioportal
6	DNAH5	Ssm	21	73	28.8%	cbioportal
7	OBSCN	Ssm	21	73	28.8%	cbioportal
5	CSMD1	Ssm	21	73	28.8%	cbioportal
8	LRP1B	Ssm	20	73	27.4%	cbioportal
9	NRAS	Ssm	20	73	27.4%	cbioportal
10	PKHD1L1	Ssm	19	73	26%	cbioportal
11	ADGRV1	Ssm	18	73	24.7%	cbioportal
12	DNAH8	Ssm	18	73	24.7%	cbioportal
14	ZFHX4	Ssm	18	73	24.7%	cbioportal
13	FAT3	Ssm	18	73	24.7%	cbioportal
16	MUC17	Ssm	17	73	23.3%	cbioportal
15	CACNA1A	Ssm	17	73	23.3%	cbioportal
18	FLG	Ssm	16	73	21.9%	cbioportal
17	CSMD2	Ssm	16	73	21.9%	cbioportal
19	RP1	Ssm	16	73	21.9%	cbioportal
21	ANK3	Ssm	15	73	20.5%	cbioportal
20	ADAMTS20	Ssm	15	73	20.5%	cbioportal
22	COL6A3	Ssm	15	73	20.5%	cbioportal
23	ASXL3	Ssm	14	73	19.2%	cbioportal
24	DNAH6	Ssm	14	73	19.2%	cbioportal
25	DSP	Ssm	14	73	19.2%	cbioportal
26	MXRA5	Ssm	14	73	19.2%	cbioportal
27	WDFY4	Ssm	14	73	19.2%	cbioportal
28	BRINP3	Ssm	13	73	17.8%	cbioportal
30	CRB1	Ssm	13	73	17.8%	cbioportal
29	CFAP54	Ssm	13	73	17.8%	cbioportal

Data updated 22 days agoSource updated 2026-02-11

Melanoma (MSK, Clin Cancer Res 2021) mel_mskimpact_2020MSK

696 cases with simple somatic mutation data · 696 cases total · 2026-01-08 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	575	696	82.6%	cbioportal
2	BRAF	Ssm	301	696	43.2%	cbioportal
3	PTPRT	Ssm	254	696	36.5%	cbioportal
15	PREX2	Ssm	141	437	32.3%	cbioportal
4	GRIN2A	Ssm	217	696	31.2%	cbioportal
5	NRAS	Ssm	207	696	29.7%	cbioportal
6	PTPRD	Ssm	199	696	28.6%	cbioportal
7	NF1	Ssm	194	696	27.9%	cbioportal
8	ROS1	Ssm	194	696	27.9%	cbioportal
9	PAK5	Ssm	189	696	27.2%	cbioportal
10	TP53	Ssm	183	696	26.3%	cbioportal
11	KMT2D	Ssm	165	696	23.7%	cbioportal
12	ERBB4	Ssm	161	696	23.1%	cbioportal
33	KMT2B	Ssm	97	437	22.2%	cbioportal
13	TP63	Ssm	153	696	22%	cbioportal
14	PIK3C2G	Ssm	149	696	21.4%	cbioportal
17	EPHA7	Ssm	140	658	21.3%	cbioportal
16	CDKN2A	Ssm	140	696	20.1%	cbioportal
18	FAT1	Ssm	136	696	19.5%	cbioportal
19	KDR	Ssm	131	696	18.8%	cbioportal
20	NOTCH4	Ssm	129	696	18.5%	cbioportal
21	KMT2C	Ssm	124	696	17.8%	cbioportal
22	NOTCH3	Ssm	118	696	17%	cbioportal
23	KMT2A	Ssm	117	696	16.8%	cbioportal
24	ALK	Ssm	115	696	16.5%	cbioportal
25	FLT1	Ssm	111	696	15.9%	cbioportal
26	CARD11	Ssm	110	696	15.8%	cbioportal
27	ARID2	Ssm	109	696	15.7%	cbioportal
31	ZFHX3	Ssm	99	658	15%	cbioportal
29	EPHA3	Ssm	103	696	14.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Melanoma (MSK, NEJM 2014) skcm_mskcc_2014MSK

64 cases with simple somatic mutation data · 64 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC16	Ssm	49	64	76.6%	cbioportal
2	TTN	Ssm	48	64	75%	cbioportal
3	DNAH5	Ssm	36	64	56.3%	cbioportal
4	PCLO	Ssm	33	64	51.6%	cbioportal
5	FAT4	Ssm	32	64	50%	cbioportal
6	BRAF	Ssm	30	64	46.9%	cbioportal
7	RP1	Ssm	28	64	43.8%	cbioportal
8	ADGRV1	Ssm	26	64	40.6%	cbioportal
9	CSMD1	Ssm	26	64	40.6%	cbioportal
10	LRP1B	Ssm	26	64	40.6%	cbioportal
11	XIRP2	Ssm	26	64	40.6%	cbioportal
14	PKHD1L1	Ssm	25	64	39.1%	cbioportal
13	HYDIN	Ssm	25	64	39.1%	cbioportal
12	DNAH7	Ssm	25	64	39.1%	cbioportal
15	DCC	Ssm	24	64	37.5%	cbioportal
18	OBSCN	Ssm	23	64	35.9%	cbioportal
16	CSMD3	Ssm	23	64	35.9%	cbioportal
17	DNAH8	Ssm	23	64	35.9%	cbioportal
19	USH2A	Ssm	23	64	35.9%	cbioportal
20	ANK3	Ssm	22	64	34.4%	cbioportal
21	APOB	Ssm	22	64	34.4%	cbioportal
22	PCDH15	Ssm	22	64	34.4%	cbioportal
23	CSMD2	Ssm	21	64	32.8%	cbioportal
27	SCN10A	Ssm	20	64	31.3%	cbioportal
30	ZNF804A	Ssm	20	64	31.3%	cbioportal
24	DSCAM	Ssm	20	64	31.3%	cbioportal
25	FMN2	Ssm	20	64	31.3%	cbioportal
26	NPAP1	Ssm	20	64	31.3%	cbioportal
28	THSD7B	Ssm	20	64	31.3%	cbioportal
29	UNC13C	Ssm	20	64	31.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Melanomas (TCGA, Cell 2015) skcm_tcga_pub_2015TCGA

346 cases with simple somatic mutation data · 359 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	246	346	71.1%	cbioportal
2	MUC16	Ssm	232	346	67.1%	cbioportal
3	PCDHAC2	Ssm	184	346	53.2%	cbioportal
4	BRAF	Ssm	177	346	51.2%	cbioportal
5	DNAH5	Ssm	171	346	49.4%	cbioportal
6	PCDHGC5	Ssm	164	346	47.4%	cbioportal
7	PCLO	Ssm	150	346	43.4%	cbioportal
8	APOB	Ssm	129	346	37.3%	cbioportal
9	LRP1B	Ssm	125	346	36.1%	cbioportal
10	ADGRV1	Ssm	123	346	35.5%	cbioportal
11	CSMD1	Ssm	118	346	34.1%	cbioportal
12	RP1	Ssm	118	346	34.1%	cbioportal
13	FAT3	Ssm	117	346	33.8%	cbioportal
14	MGAM	Ssm	116	346	33.5%	cbioportal
15	DNAH7	Ssm	114	346	32.9%	cbioportal
16	XIRP2	Ssm	114	346	32.9%	cbioportal
17	MUC17	Ssm	113	346	32.7%	cbioportal
18	ANK3	Ssm	111	346	32.1%	cbioportal
19	FLG	Ssm	111	346	32.1%	cbioportal
20	DSCAM	Ssm	108	346	31.2%	cbioportal
21	USH2A	Ssm	108	346	31.2%	cbioportal
22	CSMD3	Ssm	106	346	30.6%	cbioportal
23	PKHD1L1	Ssm	105	346	30.3%	cbioportal
24	CSMD2	Ssm	104	346	30.1%	cbioportal
25	DNAH8	Ssm	103	346	29.8%	cbioportal
27	THSD7B	Ssm	103	346	29.8%	cbioportal
26	DNAH9	Ssm	103	346	29.8%	cbioportal
28	DNAH3	Ssm	102	346	29.5%	cbioportal
29	FAT4	Ssm	102	346	29.5%	cbioportal
30	MXRA5	Ssm	100	346	28.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Merged Cohort of LGG and GBM (TCGA, Cell 2016) lgggbm_tcga_pubTCGA

812 cases with simple somatic mutation data · 1,122 cases total · 2026-01-07 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	411	812	50.6%	cbioportal
2	TP53	Ssm	322	812	39.7%	cbioportal
3	ATRX	Ssm	208	812	25.6%	cbioportal
4	TTN	Ssm	109	812	13.4%	cbioportal
5	PTEN	Ssm	108	812	13.3%	cbioportal
6	EGFR	Ssm	87	812	10.7%	cbioportal
7	CIC	Ssm	79	812	9.7%	cbioportal
8	MUC16	Ssm	69	812	8.5%	cbioportal
9	PIK3CA	Ssm	63	812	7.8%	cbioportal
10	NF1	Ssm	53	812	6.5%	cbioportal
11	RYR2	Ssm	46	812	5.7%	cbioportal
12	PIK3R1	Ssm	45	812	5.5%	cbioportal
13	FUBP1	Ssm	44	812	5.4%	cbioportal
14	FLG	Ssm	38	812	4.7%	cbioportal
15	PCLO	Ssm	33	812	4.1%	cbioportal
16	HMCN1	Ssm	31	812	3.8%	cbioportal
18	PKHD1	Ssm	28	812	3.4%	cbioportal
17	NOTCH1	Ssm	28	812	3.4%	cbioportal
19	SPTA1	Ssm	27	812	3.3%	cbioportal
20	LRP2	Ssm	26	812	3.2%	cbioportal
21	RB1	Ssm	26	812	3.2%	cbioportal
23	KEL	Ssm	22	812	2.7%	cbioportal
22	AHNAK2	Ssm	22	812	2.7%	cbioportal
24	OBSCN	Ssm	22	812	2.7%	cbioportal
25	SMARCA4	Ssm	22	812	2.7%	cbioportal
26	SYNE1	Ssm	22	812	2.7%	cbioportal
27	DNAH5	Ssm	21	812	2.6%	cbioportal
28	FRAS1	Ssm	21	812	2.6%	cbioportal
29	MUC17	Ssm	21	812	2.6%	cbioportal
30	ADGRV1	Ssm	20	812	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Mesothelioma TCGA-MESOTCGA

87 cases with simple somatic mutation data · 87 cases total · Data Release 46.0 · mapped to Malignant Mesothelioma CURATED_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
3	EP300	Ssm	68	87	78.2%	gdc
2	WNT7B	Ssm	68	87	78.2%	gdc
1	ACO2	Ssm	68	87	78.2%	gdc
4	ELFN2	Ssm	68	87	78.2%	gdc
16	TTLL1	Ssm	67	87	77%	gdc
14	PACSIN2	Ssm	67	87	77%	gdc
8	RANGAP1	Ssm	67	87	77%	gdc
7	SNU13	Ssm	67	87	77%	gdc
6	TOB2	Ssm	67	87	77%	gdc
5	SGSM3	Ssm	67	87	77%	gdc
13	TEF	Ssm	67	87	77%	gdc
12	SBF1	Ssm	67	87	77%	gdc
15	PHF5A	Ssm	67	87	77%	gdc
30	GTSE1	Ssm	67	87	77%	gdc
29	POLR2F	Ssm	67	87	77%	gdc
28	TRIOBP	Ssm	67	87	77%	gdc
27	SERHL2	Ssm	67	87	77%	gdc
26	SELENOO	Ssm	67	87	77%	gdc
25	CARD10	Ssm	67	87	77%	gdc
24	TSPO	Ssm	67	87	77%	gdc
23	Z83844.1	Ssm	67	87	77%	gdc
22	NOL12	Ssm	67	87	77%	gdc
21	CERK	Ssm	67	87	77%	gdc
20	SLC16A8	Ssm	67	87	77%	gdc
19	DESI1	Ssm	67	87	77%	gdc
18	DNAJB7	Ssm	67	87	77%	gdc
17	CBY1	Ssm	67	87	77%	gdc
11	TPTEP2-CSNK1E	Ssm	67	87	77%	gdc
10	TTC38	Ssm	67	87	77%	gdc
9	SH3BP1	Ssm	67	87	77%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Metaplastic Breast Cancer (MSK,NPJ Breast Cancer 2021) mbc_msk_2021MSK

19 cases with simple somatic mutation data · 19 cases total · 2026-01-16 · mapped to Breast Metaplastic Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	16	19	84.2%	cbioportal
4	ZFHX4	Ssm	3	5	60%	cbioportal
6	DPYD	Ssm	2	5	40%	cbioportal
14	VPS9D1	Ssm	2	5	40%	cbioportal
8	KIF26A	Ssm	2	5	40%	cbioportal
13	RYR2	Ssm	2	5	40%	cbioportal
5	APOBR	Ssm	2	5	40%	cbioportal
10	MUC22	Ssm	2	5	40%	cbioportal
2	PIK3CA	Ssm	5	19	26.3%	cbioportal
175	GAL3ST3	Ssm	1	5	20%	cbioportal
174	GABRA4	Ssm	1	5	20%	cbioportal
173	GABRA1	Ssm	1	5	20%	cbioportal
172	FUT4	Ssm	1	5	20%	cbioportal
171	FSBP	Ssm	1	5	20%	cbioportal
170	FRG1	Ssm	1	5	20%	cbioportal
169	FREM3	Ssm	1	5	20%	cbioportal
168	FOS	Ssm	1	5	20%	cbioportal
167	FMN2	Ssm	1	5	20%	cbioportal
166	FEM1B	Ssm	1	5	20%	cbioportal
165	FCGRT	Ssm	1	5	20%	cbioportal
164	FBXW8	Ssm	1	5	20%	cbioportal
163	FBLN7	Ssm	1	5	20%	cbioportal
161	FAM20C	Ssm	1	5	20%	cbioportal
160	FAM177B	Ssm	1	5	20%	cbioportal
159	FAM167A	Ssm	1	5	20%	cbioportal
157	EPHA6	Ssm	1	5	20%	cbioportal
143	DOK6	Ssm	1	5	20%	cbioportal
176	GATAD1	Ssm	1	5	20%	cbioportal
177	GATB	Ssm	1	5	20%	cbioportal
178	GDI2	Ssm	1	5	20%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Metastatic Bladder Urothelial Carcinoma (IMvigor210 Phase II Trial, ESMO Open. 2024) - iAtlas Harmonized blca_iatlas_imvigor210_2017

242 cases with simple somatic mutation data · 347 cases total · 2026-02-11 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	128	242	52.9%	cbioportal
2	TP53	Ssm	123	242	50.8%	cbioportal
3	MUC16	Ssm	80	242	33.1%	cbioportal
4	KMT2D	Ssm	70	242	28.9%	cbioportal
5	ARID1A	Ssm	64	242	26.4%	cbioportal
6	OBSCN	Ssm	61	242	25.2%	cbioportal
7	SYNE1	Ssm	55	242	22.7%	cbioportal
8	MACF1	Ssm	54	242	22.3%	cbioportal
9	KDM6A	Ssm	52	242	21.5%	cbioportal
10	FAT1	Ssm	46	242	19%	cbioportal
11	PIK3CA	Ssm	46	242	19%	cbioportal
12	RYR3	Ssm	45	242	18.6%	cbioportal
13	LRTM3	Ssm	44	242	18.2%	cbioportal
14	LRP1B	Ssm	43	242	17.8%	cbioportal
15	RNF213	Ssm	43	242	17.8%	cbioportal
16	FGFR3	Ssm	42	242	17.4%	cbioportal
17	ADGRV1	Ssm	41	242	16.9%	cbioportal
20	FLG	Ssm	40	242	16.5%	cbioportal
18	CREBBP	Ssm	40	242	16.5%	cbioportal
19	DST	Ssm	40	242	16.5%	cbioportal
21	PKHD1L1	Ssm	40	242	16.5%	cbioportal
22	AHNAK2	Ssm	39	242	16.1%	cbioportal
24	FAT4	Ssm	39	242	16.1%	cbioportal
26	MUC5AC	Ssm	39	242	16.1%	cbioportal
27	PCLO	Ssm	39	242	16.1%	cbioportal
25	HMCN1	Ssm	39	242	16.1%	cbioportal
23	ELF3	Ssm	39	242	16.1%	cbioportal
30	RYR2	Ssm	38	242	15.7%	cbioportal
29	MUC3A	Ssm	38	242	15.7%	cbioportal
28	KMT2C	Ssm	38	242	15.7%	cbioportal

Data updated 22 days agoSource updated 2026-02-11

Metastatic Breast Cancer (AURORA US Network, Nat Cancer 2023) brca_aurora_2023AURORA US Network

134 cases with simple somatic mutation data · 155 cases total · 2026-01-29 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	58	134	43.3%	cbioportal
2	TTN	Ssm	51	134	38.1%	cbioportal
3	SYNE1	Ssm	41	134	30.6%	cbioportal
4	MUC16	Ssm	40	134	29.9%	cbioportal
6	VPS13B	Ssm	30	134	22.4%	cbioportal
5	RYR2	Ssm	30	134	22.4%	cbioportal
7	USH2A	Ssm	29	134	21.6%	cbioportal
8	SYNE2	Ssm	27	134	20.1%	cbioportal
9	HUWE1	Ssm	26	134	19.4%	cbioportal
10	MUC19	Ssm	26	134	19.4%	cbioportal
11	NEB	Ssm	26	134	19.4%	cbioportal
14	OBSCN	Ssm	25	134	18.7%	cbioportal
12	DST	Ssm	25	134	18.7%	cbioportal
13	LRTM3	Ssm	25	134	18.7%	cbioportal
19	RUNX1T1	Ssm	24	134	17.9%	cbioportal
18	PLEC	Ssm	24	134	17.9%	cbioportal
16	DYNC1H1	Ssm	24	134	17.9%	cbioportal
17	HMCN1	Ssm	24	134	17.9%	cbioportal
15	ASPM	Ssm	24	134	17.9%	cbioportal
20	BLTP1	Ssm	23	134	17.2%	cbioportal
21	MYH15	Ssm	23	134	17.2%	cbioportal
26	SPEN	Ssm	22	134	16.4%	cbioportal
25	RYR3	Ssm	22	134	16.4%	cbioportal
24	KMT2A	Ssm	22	134	16.4%	cbioportal
23	CSMD3	Ssm	22	134	16.4%	cbioportal
22	ABCA13	Ssm	22	134	16.4%	cbioportal
28	VPS13D	Ssm	22	134	16.4%	cbioportal
27	TCHH	Ssm	22	134	16.4%	cbioportal
29	DNAH5	Ssm	21	134	15.7%	cbioportal
30	FAM186A	Ssm	21	134	15.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-29

Metastatic Breast Cancer (DFCI, Cancer Discov 2020) brca_dfci_2020DFCI

59 cases with simple somatic mutation data · 59 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	26	59	44.1%	cbioportal
2	TP53	Ssm	21	59	35.6%	cbioportal
3	TTN	Ssm	18	59	30.5%	cbioportal
4	ESR1	Ssm	17	59	28.8%	cbioportal
5	GATA3	Ssm	11	59	18.6%	cbioportal
6	MUC16	Ssm	10	59	16.9%	cbioportal
7	CDH1	Ssm	8	59	13.6%	cbioportal
13	TBX3	Ssm	8	59	13.6%	cbioportal
12	OBSCN	Ssm	8	59	13.6%	cbioportal
11	NEB	Ssm	8	59	13.6%	cbioportal
10	MYO9B	Ssm	8	59	13.6%	cbioportal
8	FLG	Ssm	8	59	13.6%	cbioportal
9	KMT2C	Ssm	8	59	13.6%	cbioportal
17	ATAD5	Ssm	7	59	11.9%	cbioportal
15	ARID1A	Ssm	7	59	11.9%	cbioportal
14	AHNAK	Ssm	7	59	11.9%	cbioportal
19	PLEC	Ssm	7	59	11.9%	cbioportal
18	MAP2K4	Ssm	7	59	11.9%	cbioportal
16	ARID2	Ssm	7	59	11.9%	cbioportal
22	DCHS2	Ssm	6	59	10.2%	cbioportal
23	MED23	Ssm	6	59	10.2%	cbioportal
24	PKHD1	Ssm	6	59	10.2%	cbioportal
25	RIMS2	Ssm	6	59	10.2%	cbioportal
26	TCHH	Ssm	6	59	10.2%	cbioportal
27	ZFHX4	Ssm	6	59	10.2%	cbioportal
21	DCC	Ssm	6	59	10.2%	cbioportal
20	ADGRV1	Ssm	6	59	10.2%	cbioportal
30	APOB	Ssm	5	59	8.5%	cbioportal
29	AKT1	Ssm	5	59	8.5%	cbioportal
28	ABCA13	Ssm	5	59	8.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Metastatic Breast Cancer (INSERM, PLoS Med 2016) brca_igr_2015INSERM

216 cases with simple somatic mutation data · 216 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	84	216	38.9%	cbioportal
2	PIK3CA	Ssm	66	216	30.6%	cbioportal
3	TTN	Ssm	40	216	18.5%	cbioportal
4	GATA3	Ssm	26	216	12%	cbioportal
5	ESR1	Ssm	22	216	10.2%	cbioportal
6	RYR2	Ssm	20	216	9.3%	cbioportal
7	MAP3K1	Ssm	18	216	8.3%	cbioportal
9	FSIP2	Ssm	16	216	7.4%	cbioportal
8	CDH1	Ssm	16	216	7.4%	cbioportal
12	OBSCN	Ssm	15	216	6.9%	cbioportal
11	HMCN1	Ssm	15	216	6.9%	cbioportal
10	FRAS1	Ssm	15	216	6.9%	cbioportal
13	USH2A	Ssm	15	216	6.9%	cbioportal
17	SYNE1	Ssm	14	216	6.5%	cbioportal
14	KMT2C	Ssm	14	216	6.5%	cbioportal
15	MUC16	Ssm	14	216	6.5%	cbioportal
16	RYR3	Ssm	14	216	6.5%	cbioportal
18	DMD	Ssm	13	216	6%	cbioportal
19	DNAH6	Ssm	13	216	6%	cbioportal
20	DNAH9	Ssm	13	216	6%	cbioportal
21	FLG	Ssm	13	216	6%	cbioportal
22	NEB	Ssm	13	216	6%	cbioportal
23	PKHD1L1	Ssm	13	216	6%	cbioportal
27	PCLO	Ssm	12	216	5.6%	cbioportal
26	NF1	Ssm	12	216	5.6%	cbioportal
24	ANK3	Ssm	12	216	5.6%	cbioportal
25	CACNA1E	Ssm	12	216	5.6%	cbioportal
30	XIRP2	Ssm	12	216	5.6%	cbioportal
29	TENM3	Ssm	12	216	5.6%	cbioportal
28	RYR1	Ssm	12	216	5.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Metastatic castration-sensitive prostate cancer (MSK, Clin Cancer Res 2020) prad_mcspc_mskcc_2020MSK

424 cases with simple somatic mutation data · 424 cases total · 2026-04-07 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	129	424	30.4%	cbioportal
2	SPOP	Ssm	53	424	12.5%	cbioportal
3	FOXA1	Ssm	50	424	11.8%	cbioportal
4	PTEN	Ssm	46	424	10.8%	cbioportal
5	APC	Ssm	36	424	8.5%	cbioportal
6	KMT2C	Ssm	34	424	8%	cbioportal
7	KMT2D	Ssm	30	424	7.1%	cbioportal
8	ZFHX3	Ssm	25	387	6.5%	cbioportal
11	PIK3CA	Ssm	24	424	5.7%	cbioportal
9	ATM	Ssm	24	424	5.7%	cbioportal
10	CDK12	Ssm	24	424	5.7%	cbioportal
12	CTNNB1	Ssm	23	424	5.4%	cbioportal
13	BRCA2	Ssm	19	424	4.5%	cbioportal
15	MGA	Ssm	14	387	3.6%	cbioportal
14	SPEN	Ssm	15	424	3.5%	cbioportal
16	NCOR1	Ssm	13	424	3.1%	cbioportal
57	TP53BP1	Ssm	7	233	3%	cbioportal
18	CREBBP	Ssm	12	424	2.8%	cbioportal
17	BRAF	Ssm	12	424	2.8%	cbioportal
19	JAK1	Ssm	12	424	2.8%	cbioportal
20	FAT1	Ssm	11	424	2.6%	cbioportal
21	GRIN2A	Ssm	11	424	2.6%	cbioportal
22	PTPRT	Ssm	11	424	2.6%	cbioportal
23	ARID1A	Ssm	10	424	2.4%	cbioportal
28	NF1	Ssm	10	424	2.4%	cbioportal
26	ASXL2	Ssm	10	424	2.4%	cbioportal
25	ASXL1	Ssm	10	424	2.4%	cbioportal
27	KMT2A	Ssm	10	424	2.4%	cbioportal
29	NOTCH1	Ssm	10	424	2.4%	cbioportal
24	ARID1B	Ssm	10	424	2.4%	cbioportal

Data updated 22 days agoSource updated 2026-04-07

Metastatic Colorectal Cancer (MSK, Cancer Cell 2018) crc_msk_2017MSK

1,134 cases with simple somatic mutation data · 1,134 cases total · 2026-01-16 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	867	1,134	76.5%	cbioportal
2	TP53	Ssm	824	1,134	72.7%	cbioportal
3	KRAS	Ssm	495	1,134	43.7%	cbioportal
4	PIK3CA	Ssm	229	1,134	20.2%	cbioportal
5	SMAD4	Ssm	173	1,134	15.3%	cbioportal
8	TCF7L2	Ssm	124	920	13.5%	cbioportal
6	FBXW7	Ssm	145	1,134	12.8%	cbioportal
7	BRAF	Ssm	133	1,134	11.7%	cbioportal
10	SOX9	Ssm	107	1,134	9.4%	cbioportal
9	KMT2D	Ssm	107	1,134	9.4%	cbioportal
11	ARID1A	Ssm	104	1,134	9.2%	cbioportal
12	PTPRS	Ssm	102	1,134	9%	cbioportal
13	RNF43	Ssm	95	1,134	8.4%	cbioportal
14	ATM	Ssm	85	1,134	7.5%	cbioportal
15	NOTCH3	Ssm	85	1,134	7.5%	cbioportal
16	CTNNB1	Ssm	84	1,134	7.4%	cbioportal
22	ZFHX3	Ssm	68	920	7.4%	cbioportal
18	PTPRT	Ssm	78	1,134	6.9%	cbioportal
17	FAT1	Ssm	78	1,134	6.9%	cbioportal
38	MGA	Ssm	57	920	6.2%	cbioportal
19	NOTCH1	Ssm	70	1,134	6.2%	cbioportal
20	KMT2C	Ssm	68	1,134	6%	cbioportal
21	PTEN	Ssm	68	1,134	6%	cbioportal
24	SMARCA4	Ssm	66	1,134	5.8%	cbioportal
23	EPHA5	Ssm	66	1,134	5.8%	cbioportal
26	BRCA2	Ssm	65	1,134	5.7%	cbioportal
25	AMER1	Ssm	65	1,134	5.7%	cbioportal
27	ERBB4	Ssm	64	1,134	5.6%	cbioportal
29	EP300	Ssm	63	1,134	5.6%	cbioportal
28	ARID1B	Ssm	63	1,134	5.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Metastatic Esophagogastric Cancer (MSK, Cancer Discovery 2017) egc_msk_2017MSK

341 cases with simple somatic mutation data · 341 cases total · 2026-01-07 · mapped to Gastroesophageal Junction Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	253	341	74.2%	cbioportal
2	ARID1A	Ssm	44	341	12.9%	cbioportal
164	PREX2	Ssm	4	36	11.1%	cbioportal
3	CDKN2A	Ssm	37	341	10.9%	cbioportal
185	DROSHA	Ssm	3	28	10.7%	cbioportal
4	SMAD4	Ssm	33	341	9.7%	cbioportal
5	KRAS	Ssm	31	341	9.1%	cbioportal
6	KMT2D	Ssm	30	341	8.8%	cbioportal
14	ZFHX3	Ssm	17	206	8.3%	cbioportal
7	CDH1	Ssm	27	341	7.9%	cbioportal
8	PIK3CA	Ssm	26	341	7.6%	cbioportal
9	ERBB4	Ssm	25	341	7.3%	cbioportal
10	EPHA5	Ssm	24	341	7%	cbioportal
11	PTPRT	Ssm	23	341	6.7%	cbioportal
12	ERBB3	Ssm	21	341	6.2%	cbioportal
37	PGR	Ssm	12	206	5.8%	cbioportal
13	PTPRD	Ssm	19	341	5.6%	cbioportal
15	APC	Ssm	16	341	4.7%	cbioportal
16	NF1	Ssm	16	341	4.7%	cbioportal
17	PBRM1	Ssm	16	341	4.7%	cbioportal
18	SMARCA4	Ssm	16	341	4.7%	cbioportal
20	NOTCH1	Ssm	15	341	4.4%	cbioportal
19	KMT2A	Ssm	15	341	4.4%	cbioportal
57	POLD1	Ssm	9	206	4.4%	cbioportal
52	INHBA	Ssm	9	206	4.4%	cbioportal
25	RHOA	Ssm	14	333	4.2%	cbioportal
23	CREBBP	Ssm	14	341	4.1%	cbioportal
21	AR	Ssm	14	341	4.1%	cbioportal
24	PTPRS	Ssm	14	341	4.1%	cbioportal
22	CIC	Ssm	14	341	4.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Metastatic Melanoma (DFCI, Nat Med. 2019) - iAtlas Harmonized mel_iatlas_liu_2019

122 cases with simple somatic mutation data · 122 cases total · 2026-02-11 · mapped to Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	83	122	68%	cbioportal
2	MUC16	Ssm	77	122	63.1%	cbioportal
3	DNAH5	Ssm	60	122	49.2%	cbioportal
4	PCLO	Ssm	56	122	45.9%	cbioportal
5	BRAF	Ssm	50	122	41%	cbioportal
6	RP1	Ssm	47	122	38.5%	cbioportal
7	DNAH6	Ssm	46	122	37.7%	cbioportal
8	LRP1B	Ssm	45	122	36.9%	cbioportal
9	ANK3	Ssm	44	122	36.1%	cbioportal
10	CSMD1	Ssm	43	122	35.2%	cbioportal
11	NEB	Ssm	43	122	35.2%	cbioportal
14	OBSCN	Ssm	42	122	34.4%	cbioportal
12	APOB	Ssm	42	122	34.4%	cbioportal
13	DNAH7	Ssm	42	122	34.4%	cbioportal
15	PKHD1L1	Ssm	41	122	33.6%	cbioportal
17	MUC17	Ssm	40	122	32.8%	cbioportal
16	FSIP2	Ssm	40	122	32.8%	cbioportal
18	ADGRV1	Ssm	39	122	32%	cbioportal
19	FLG	Ssm	39	122	32%	cbioportal
22	ZFHX4	Ssm	38	122	31.1%	cbioportal
21	SYNE1	Ssm	38	122	31.1%	cbioportal
20	MXRA5	Ssm	38	122	31.1%	cbioportal
23	NRAS	Ssm	37	122	30.3%	cbioportal
24	DNAH9	Ssm	36	122	29.5%	cbioportal
25	CFAP54	Ssm	35	122	28.7%	cbioportal
26	THSD7B	Ssm	34	122	27.9%	cbioportal
28	WDFY4	Ssm	33	122	27%	cbioportal
27	FAT4	Ssm	33	122	27%	cbioportal
29	ABCA13	Ssm	32	122	26.2%	cbioportal
30	CSMD2	Ssm	32	122	26.2%	cbioportal

Data updated 22 days agoSource updated 2026-02-11

Metastatic Melanoma (DFCI, Nature Medicine 2019) mel_dfci_2019DFCI

144 cases with simple somatic mutation data · 144 cases total · 2026-02-10 · mapped to Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	92	144	63.9%	cbioportal
2	MUC16	Ssm	86	144	59.7%	cbioportal
3	DNAH5	Ssm	69	144	47.9%	cbioportal
4	PCLO	Ssm	65	144	45.1%	cbioportal
5	LRP1B	Ssm	57	144	39.6%	cbioportal
6	BRAF	Ssm	56	144	38.9%	cbioportal
7	DNAH6	Ssm	49	144	34%	cbioportal
8	MXRA5	Ssm	48	144	33.3%	cbioportal
10	RP1	Ssm	48	144	33.3%	cbioportal
9	PKHD1L1	Ssm	48	144	33.3%	cbioportal
12	CSMD1	Ssm	47	144	32.6%	cbioportal
11	ANK3	Ssm	47	144	32.6%	cbioportal
16	OBSCN	Ssm	45	144	31.3%	cbioportal
15	MGAM	Ssm	45	144	31.3%	cbioportal
14	DNAH7	Ssm	45	144	31.3%	cbioportal
13	APOB	Ssm	45	144	31.3%	cbioportal
20	NRAS	Ssm	43	144	29.9%	cbioportal
19	FSIP2	Ssm	43	144	29.9%	cbioportal
18	FAT4	Ssm	43	144	29.9%	cbioportal
17	ADGRV1	Ssm	43	144	29.9%	cbioportal
21	NEB	Ssm	42	144	29.2%	cbioportal
23	CSMD2	Ssm	41	144	28.5%	cbioportal
24	MUC17	Ssm	41	144	28.5%	cbioportal
22	CFAP54	Ssm	41	144	28.5%	cbioportal
26	HYDIN	Ssm	40	144	27.8%	cbioportal
25	FLG	Ssm	40	144	27.8%	cbioportal
29	ZFHX4	Ssm	39	144	27.1%	cbioportal
28	FAT3	Ssm	39	144	27.1%	cbioportal
27	CSMD3	Ssm	39	144	27.1%	cbioportal
30	DNAH9	Ssm	38	144	26.4%	cbioportal

Data updated 22 days agoSource updated 2026-02-10

Metastatic Melanoma (DFCI, Science 2015) skcm_dfci_2015DFCI

110 cases with simple somatic mutation data · 110 cases total · 2026-08-20 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	70	110	63.6%	cbioportal
2	MUC16	Ssm	67	110	60.9%	cbioportal
3	DNAH5	Ssm	42	110	38.2%	cbioportal
4	BRAF	Ssm	39	110	35.5%	cbioportal
5	PCLO	Ssm	39	110	35.5%	cbioportal
6	USH2A	Ssm	37	110	33.6%	cbioportal
7	NRAS	Ssm	34	110	30.9%	cbioportal
8	ANK3	Ssm	33	110	30%	cbioportal
10	LRP1B	Ssm	32	110	29.1%	cbioportal
9	CSMD1	Ssm	32	110	29.1%	cbioportal
11	DNAH3	Ssm	31	110	28.2%	cbioportal
14	PKHD1L1	Ssm	30	110	27.3%	cbioportal
12	ADGRV1	Ssm	30	110	27.3%	cbioportal
13	CSMD3	Ssm	30	110	27.3%	cbioportal
15	XIRP2	Ssm	30	110	27.3%	cbioportal
17	DNAH8	Ssm	29	110	26.4%	cbioportal
18	FLG	Ssm	29	110	26.4%	cbioportal
19	MAGEC1	Ssm	29	110	26.4%	cbioportal
16	DNAH11	Ssm	29	110	26.4%	cbioportal
22	SPHKAP	Ssm	28	110	25.5%	cbioportal
21	HYDIN	Ssm	28	110	25.5%	cbioportal
20	ERICH3	Ssm	28	110	25.5%	cbioportal
23	APOB	Ssm	27	110	24.5%	cbioportal
24	CSMD2	Ssm	27	110	24.5%	cbioportal
27	MUC17	Ssm	26	110	23.6%	cbioportal
28	PCDH15	Ssm	26	110	23.6%	cbioportal
29	PREX2	Ssm	26	110	23.6%	cbioportal
30	TENM3	Ssm	26	110	23.6%	cbioportal
25	CACNA1E	Ssm	26	110	23.6%	cbioportal
26	DOCK3	Ssm	26	110	23.6%	cbioportal

Data updated 22 days agoSource updated 2026-08-20

Metastatic Melanoma (MSK, JCO Precis Oncol 2017) skcm_vanderbilt_mskcc_2015MSK

66 cases with simple somatic mutation data · 66 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	66	66	100%	cbioportal
2	PTPRT	Ssm	16	66	24.2%	cbioportal
3	KMT2C	Ssm	14	66	21.2%	cbioportal
5	GRM3	Ssm	13	66	19.7%	cbioportal
4	CDKN2A	Ssm	13	66	19.7%	cbioportal
7	PAK5	Ssm	12	66	18.2%	cbioportal
116	MAP3K1	Ssm	2	11	18.2%	cbioportal
92	CBLC	Ssm	2	11	18.2%	cbioportal
6	NOTCH4	Ssm	12	66	18.2%	cbioportal
10	PTEN	Ssm	11	66	16.7%	cbioportal
8	GRIN2A	Ssm	11	66	16.7%	cbioportal
9	PREX2	Ssm	11	66	16.7%	cbioportal
11	PTPRD	Ssm	10	66	15.2%	cbioportal
12	TP53	Ssm	10	66	15.2%	cbioportal
13	EPHA6	Ssm	9	66	13.6%	cbioportal
14	MAGI2	Ssm	9	66	13.6%	cbioportal
15	SMARCA4	Ssm	9	66	13.6%	cbioportal
16	ATM	Ssm	8	66	12.1%	cbioportal
19	TERT	Ssm	8	66	12.1%	cbioportal
18	ROS1	Ssm	8	66	12.1%	cbioportal
17	KMT2D	Ssm	8	66	12.1%	cbioportal
22	EPHA10	Ssm	7	66	10.6%	cbioportal
25	PIK3C2G	Ssm	7	66	10.6%	cbioportal
24	FAT1	Ssm	7	66	10.6%	cbioportal
23	EPHA7	Ssm	7	66	10.6%	cbioportal
20	AR	Ssm	7	66	10.6%	cbioportal
21	CARD11	Ssm	7	66	10.6%	cbioportal
30	RB1	Ssm	6	66	9.1%	cbioportal
28	IL7R	Ssm	6	66	9.1%	cbioportal
29	NOTCH3	Ssm	6	66	9.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Metastatic Melanoma (UCLA, Cell 2016) mel_ucla_2016UCLA

38 cases with simple somatic mutation data · 38 cases total · 2026-02-10 · mapped to Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	31	38	81.6%	cbioportal
2	MUC16	Ssm	29	38	76.3%	cbioportal
3	MUC4	Ssm	26	38	68.4%	cbioportal
4	DNAH5	Ssm	24	38	63.2%	cbioportal
5	CSMD1	Ssm	23	38	60.5%	cbioportal
6	HYDIN	Ssm	22	38	57.9%	cbioportal
7	PCLO	Ssm	22	38	57.9%	cbioportal
8	LRP1B	Ssm	20	38	52.6%	cbioportal
11	THSD7B	Ssm	19	38	50%	cbioportal
9	DNAH7	Ssm	19	38	50%	cbioportal
10	FLG	Ssm	19	38	50%	cbioportal
16	SPHKAP	Ssm	18	38	47.4%	cbioportal
12	ANK3	Ssm	18	38	47.4%	cbioportal
13	DNAH3	Ssm	18	38	47.4%	cbioportal
14	MGAM2	Ssm	18	38	47.4%	cbioportal
15	OBSCN	Ssm	18	38	47.4%	cbioportal
17	WDR87	Ssm	18	38	47.4%	cbioportal
18	DNAH9	Ssm	17	38	44.7%	cbioportal
19	DSCAM	Ssm	17	38	44.7%	cbioportal
21	APOB	Ssm	16	38	42.1%	cbioportal
20	ADGRV1	Ssm	16	38	42.1%	cbioportal
22	USH2A	Ssm	16	38	42.1%	cbioportal
28	RP1	Ssm	15	38	39.5%	cbioportal
23	CRB1	Ssm	15	38	39.5%	cbioportal
24	DMBT1	Ssm	15	38	39.5%	cbioportal
25	FCGBP	Ssm	15	38	39.5%	cbioportal
26	MGAM	Ssm	15	38	39.5%	cbioportal
27	MUC17	Ssm	15	38	39.5%	cbioportal
29	WDFY4	Ssm	15	38	39.5%	cbioportal
30	CFAP54	Ssm	14	38	36.8%	cbioportal

Data updated 22 days agoSource updated 2026-02-10

Metastatic Melanoma (UCLA, Cell 2016) - iAtlas Harmonized mel_iatlas_hugo_ucla_2016

27 cases with simple somatic mutation data · 27 cases total · 2026-02-11 · mapped to Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	25	27	92.6%	cbioportal
2	MUC16	Ssm	23	27	85.2%	cbioportal
3	DNAH5	Ssm	18	27	66.7%	cbioportal
4	CSMD1	Ssm	17	27	63%	cbioportal
5	LRP1B	Ssm	17	27	63%	cbioportal
8	THSD7B	Ssm	16	27	59.3%	cbioportal
7	PCLO	Ssm	16	27	59.3%	cbioportal
6	BRAF	Ssm	16	27	59.3%	cbioportal
10	DNAH7	Ssm	15	27	55.6%	cbioportal
11	HYDIN	Ssm	15	27	55.6%	cbioportal
9	APOB	Ssm	15	27	55.6%	cbioportal
12	RP1	Ssm	15	27	55.6%	cbioportal
21	OBSCN	Ssm	14	27	51.9%	cbioportal
13	ADGRV1	Ssm	14	27	51.9%	cbioportal
20	NEB	Ssm	14	27	51.9%	cbioportal
19	FLG	Ssm	14	27	51.9%	cbioportal
18	FAT4	Ssm	14	27	51.9%	cbioportal
17	DNAH3	Ssm	14	27	51.9%	cbioportal
16	CRB1	Ssm	14	27	51.9%	cbioportal
15	CFAP54	Ssm	14	27	51.9%	cbioportal
14	ANK3	Ssm	14	27	51.9%	cbioportal
22	WDFY4	Ssm	14	27	51.9%	cbioportal
25	MUC17	Ssm	13	27	48.1%	cbioportal
24	DNAH9	Ssm	13	27	48.1%	cbioportal
26	SPHKAP	Ssm	13	27	48.1%	cbioportal
27	TRANK1	Ssm	13	27	48.1%	cbioportal
28	WDR87	Ssm	13	27	48.1%	cbioportal
23	CSMD2	Ssm	13	27	48.1%	cbioportal
29	COL4A4	Ssm	12	27	44.4%	cbioportal
31	GRIN3A	Ssm	12	27	44.4%	cbioportal

Data updated 22 days agoSource updated 2026-02-11

Metastatic Non-Small Cell Lung Cancer (MSK, Nature Medicine 2022) nsclc_ctdx_msk_2022MSK

2,621 cases with simple somatic mutation data · 2,621 cases total · 2026-01-08 · mapped to Lung Non-Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	1,123	2,621	42.8%	cbioportal
2	EGFR	Ssm	662	2,621	25.3%	cbioportal
3	KRAS	Ssm	523	2,621	20%	cbioportal
4	STK11	Ssm	222	2,621	8.5%	cbioportal
11	RBM10	Ssm	75	945	7.9%	cbioportal
5	KEAP1	Ssm	197	2,621	7.5%	cbioportal
13	PTPRD	Ssm	70	945	7.4%	cbioportal
10	PTEN	Ssm	77	1,257	6.1%	cbioportal
12	ATM	Ssm	71	1,257	5.6%	cbioportal
23	ZFHX3	Ssm	52	940	5.5%	cbioportal
14	APC	Ssm	69	1,257	5.5%	cbioportal
15	ARID1A	Ssm	68	1,257	5.4%	cbioportal
24	FAT1	Ssm	51	954	5.3%	cbioportal
16	SMARCA4	Ssm	67	1,257	5.3%	cbioportal
26	PTPRT	Ssm	50	945	5.3%	cbioportal
25	MGA	Ssm	50	949	5.3%	cbioportal
17	NF1	Ssm	66	1,257	5.3%	cbioportal
6	MET	Ssm	134	2,621	5.1%	cbioportal
27	KMT2D	Ssm	48	954	5%	cbioportal
19	CDKN2A	Ssm	63	1,257	5%	cbioportal
20	CTNNB1	Ssm	62	1,257	4.9%	cbioportal
21	RB1	Ssm	59	1,257	4.7%	cbioportal
22	SMAD4	Ssm	58	1,257	4.6%	cbioportal
32	GRIN2A	Ssm	40	954	4.2%	cbioportal
33	KMT2C	Ssm	38	954	4%	cbioportal
7	ERBB2	Ssm	103	2,621	3.9%	cbioportal
35	EPHA3	Ssm	37	954	3.9%	cbioportal
8	PIK3CA	Ssm	101	2,621	3.9%	cbioportal
40	ATR	Ssm	35	954	3.7%	cbioportal
39	ARID1B	Ssm	35	954	3.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Metastatic Pancreatic Adenocarcinoma (PRINCE Trial, Nat Med. 2022) - iAtlas Harmonized paad_iatlas_prince_2022

93 cases with simple somatic mutation data · 93 cases total · 2026-02-16 · mapped to Pancreatic Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	68	93	73.1%	cbioportal
2	TP53	Ssm	64	93	68.8%	cbioportal
3	NBPF14	Ssm	30	93	32.3%	cbioportal
4	CDKN2A	Ssm	25	93	26.9%	cbioportal
5	MUC17	Ssm	21	93	22.6%	cbioportal
6	TTN	Ssm	20	93	21.5%	cbioportal
7	DEAF1	Ssm	18	93	19.4%	cbioportal
8	AHNAK	Ssm	17	93	18.3%	cbioportal
9	NBPF1	Ssm	16	93	17.2%	cbioportal
10	PHLPP1	Ssm	14	93	15.1%	cbioportal
11	AHNAK2	Ssm	13	93	14%	cbioportal
12	CENPB	Ssm	13	93	14%	cbioportal
14	SMAD4	Ssm	12	93	12.9%	cbioportal
15	ZNF208	Ssm	12	93	12.9%	cbioportal
13	MUC5AC	Ssm	12	93	12.9%	cbioportal
16	MUC16	Ssm	11	93	11.8%	cbioportal
17	TCHH	Ssm	11	93	11.8%	cbioportal
20	RAMP2	Ssm	10	93	10.8%	cbioportal
19	NBPF10	Ssm	10	93	10.8%	cbioportal
18	FLG2	Ssm	10	93	10.8%	cbioportal
22	ZNF594	Ssm	9	93	9.7%	cbioportal
21	DGKZ	Ssm	9	93	9.7%	cbioportal
28	SAAL1	Ssm	8	93	8.6%	cbioportal
27	OBSCN	Ssm	8	93	8.6%	cbioportal
26	HRNR	Ssm	8	93	8.6%	cbioportal
25	FLG	Ssm	8	93	8.6%	cbioportal
24	EPAS1	Ssm	8	93	8.6%	cbioportal
23	EIF3J	Ssm	8	93	8.6%	cbioportal
30	USH2A	Ssm	8	93	8.6%	cbioportal
29	STUM	Ssm	8	93	8.6%	cbioportal

Data updated 22 days agoSource updated 2026-02-16

Metastatic Pancreatic Neuroendocrine Tumor (MSK, JCO Precis Oncol 2018) panet_msk_2018MSK

96 cases with simple somatic mutation data · 96 cases total · 2026-01-12 · mapped to Pancreatic Neuroendocrine Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MEN1	Ssm	50	96	52.1%	cbioportal
2	DAXX	Ssm	41	96	42.7%	cbioportal
3	ATRX	Ssm	21	96	21.9%	cbioportal
4	TSC2	Ssm	18	96	18.8%	cbioportal
5	SETD2	Ssm	17	96	17.7%	cbioportal
6	TP53	Ssm	12	96	12.5%	cbioportal
8	PTEN	Ssm	11	96	11.5%	cbioportal
7	ARID1A	Ssm	11	96	11.5%	cbioportal
9	BRAF	Ssm	10	96	10.4%	cbioportal
118	PTP4A1	Ssm	2	21	9.5%	cbioportal
10	KMT2C	Ssm	7	96	7.3%	cbioportal
11	NOTCH3	Ssm	7	96	7.3%	cbioportal
14	MED12	Ssm	6	96	6.3%	cbioportal
16	TERT	Ssm	6	96	6.3%	cbioportal
13	KMT2D	Ssm	6	96	6.3%	cbioportal
15	NOTCH1	Ssm	6	96	6.3%	cbioportal
12	ATM	Ssm	6	96	6.3%	cbioportal
19	CREBBP	Ssm	5	96	5.2%	cbioportal
20	FAT1	Ssm	5	96	5.2%	cbioportal
18	BRCA2	Ssm	5	96	5.2%	cbioportal
17	ARID2	Ssm	5	96	5.2%	cbioportal
193	KMT2B	Ssm	1	21	4.8%	cbioportal
194	LYN	Ssm	1	21	4.8%	cbioportal
23	IGF1R	Ssm	4	96	4.2%	cbioportal
26	LATS2	Ssm	4	96	4.2%	cbioportal
29	TSC1	Ssm	4	96	4.2%	cbioportal
21	CBL	Ssm	4	96	4.2%	cbioportal
22	ERBB4	Ssm	4	96	4.2%	cbioportal
30	VHL	Ssm	4	96	4.2%	cbioportal
24	KMT2A	Ssm	4	96	4.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Metastatic Prostate Adenocarcinoma (MCTP, Nature 2012) prad_michMCTP

61 cases with simple somatic mutation data · 121 cases total · 2026-01-13 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	25	61	41%	cbioportal
3	ZFHX3	Ssm	8	61	13.1%	cbioportal
2	TTN	Ssm	8	61	13.1%	cbioportal
4	ABCA13	Ssm	7	61	11.5%	cbioportal
5	RYR3	Ssm	7	61	11.5%	cbioportal
10	PTEN	Ssm	6	61	9.8%	cbioportal
11	RB1	Ssm	6	61	9.8%	cbioportal
9	MUC16	Ssm	6	61	9.8%	cbioportal
8	KMT2D	Ssm	6	61	9.8%	cbioportal
7	DNAH11	Ssm	6	61	9.8%	cbioportal
6	APC	Ssm	6	61	9.8%	cbioportal
13	CSMD1	Ssm	5	61	8.2%	cbioportal
14	USH2A	Ssm	5	61	8.2%	cbioportal
12	AR	Ssm	5	61	8.2%	cbioportal
17	CDC42EP1	Ssm	4	61	6.6%	cbioportal
16	ATM	Ssm	4	61	6.6%	cbioportal
15	ASXL2	Ssm	4	61	6.6%	cbioportal
30	RYR1	Ssm	4	61	6.6%	cbioportal
29	PLEC	Ssm	4	61	6.6%	cbioportal
28	NEB	Ssm	4	61	6.6%	cbioportal
27	NAALADL2	Ssm	4	61	6.6%	cbioportal
26	MAGI3	Ssm	4	61	6.6%	cbioportal
25	LPAR1	Ssm	4	61	6.6%	cbioportal
24	JARID2	Ssm	4	61	6.6%	cbioportal
23	HSPG2	Ssm	4	61	6.6%	cbioportal
22	GRIA1	Ssm	4	61	6.6%	cbioportal
21	FREM2	Ssm	4	61	6.6%	cbioportal
20	FAT4	Ssm	4	61	6.6%	cbioportal
19	DGKB	Ssm	4	61	6.6%	cbioportal
18	COL6A3	Ssm	4	61	6.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Metastatic Prostate Adenocarcinoma (SU2C/PCF Dream Team, PNAS 2019) prad_su2c_2019SU2C/PCF Dream Team

444 cases with simple somatic mutation data · 444 cases total · 2026-01-16 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	163	444	36.7%	cbioportal
2	TTN	Ssm	88	444	19.8%	cbioportal
3	MUC16	Ssm	67	444	15.1%	cbioportal
4	AR	Ssm	61	444	13.7%	cbioportal
5	SYNE1	Ssm	49	444	11%	cbioportal
6	CSMD3	Ssm	43	444	9.7%	cbioportal
7	FOXA1	Ssm	41	444	9.2%	cbioportal
8	KMT2C	Ssm	40	444	9%	cbioportal
9	BRCA2	Ssm	37	444	8.3%	cbioportal
10	KMT2D	Ssm	37	444	8.3%	cbioportal
11	AHNAK2	Ssm	35	444	7.9%	cbioportal
12	HMCN1	Ssm	32	444	7.2%	cbioportal
14	USH2A	Ssm	31	444	7%	cbioportal
13	APC	Ssm	31	444	7%	cbioportal
15	CACNA1E	Ssm	29	444	6.5%	cbioportal
16	OBSCN	Ssm	29	444	6.5%	cbioportal
18	PLEC	Ssm	28	444	6.3%	cbioportal
17	LRP1B	Ssm	28	444	6.3%	cbioportal
19	PTEN	Ssm	28	444	6.3%	cbioportal
20	RYR1	Ssm	28	444	6.3%	cbioportal
21	ATM	Ssm	27	444	6.1%	cbioportal
23	FAT3	Ssm	27	444	6.1%	cbioportal
22	DCHS2	Ssm	27	444	6.1%	cbioportal
26	RYR3	Ssm	26	444	5.9%	cbioportal
25	MUC4	Ssm	26	444	5.9%	cbioportal
24	CDK12	Ssm	26	444	5.9%	cbioportal
29	RYR2	Ssm	25	444	5.6%	cbioportal
30	SPOP	Ssm	25	444	5.6%	cbioportal
27	ABCA13	Ssm	25	444	5.6%	cbioportal
28	MACF1	Ssm	25	444	5.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Metastatic Prostate Cancer (SU2C/PCF Dream Team, Cell 2015) prad_su2c_2015SU2C/PCF Dream Team

150 cases with simple somatic mutation data · 150 cases total · 2026-01-16 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC4	Ssm	60	150	40%	cbioportal
2	TP53	Ssm	58	150	38.7%	cbioportal
3	TTN	Ssm	41	150	27.3%	cbioportal
4	MUC16	Ssm	35	150	23.3%	cbioportal
5	AR	Ssm	27	150	18%	cbioportal
6	KMT2C	Ssm	23	150	15.3%	cbioportal
7	SYNE1	Ssm	21	150	14%	cbioportal
8	KMT2D	Ssm	18	150	12%	cbioportal
9	FOXA1	Ssm	16	150	10.7%	cbioportal
10	MUC2	Ssm	15	150	10%	cbioportal
14	USH2A	Ssm	14	150	9.3%	cbioportal
13	PIEZO1	Ssm	14	150	9.3%	cbioportal
11	CSMD3	Ssm	14	150	9.3%	cbioportal
12	FAT4	Ssm	14	150	9.3%	cbioportal
16	PLEC	Ssm	13	150	8.7%	cbioportal
15	CSMD1	Ssm	13	150	8.7%	cbioportal
19	SPOP	Ssm	12	150	8%	cbioportal
18	LRP1B	Ssm	12	150	8%	cbioportal
17	APC	Ssm	12	150	8%	cbioportal
24	HMCN1	Ssm	11	150	7.3%	cbioportal
23	DNAH3	Ssm	11	150	7.3%	cbioportal
22	DCHS2	Ssm	11	150	7.3%	cbioportal
29	PTEN	Ssm	11	150	7.3%	cbioportal
21	CNTNAP5	Ssm	11	150	7.3%	cbioportal
20	ABCA13	Ssm	11	150	7.3%	cbioportal
30	RYR1	Ssm	11	150	7.3%	cbioportal
27	PKHD1L1	Ssm	11	150	7.3%	cbioportal
26	OBSCN	Ssm	11	150	7.3%	cbioportal
25	MUC5B	Ssm	11	150	7.3%	cbioportal
28	PREX2	Ssm	11	150	7.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Metastatic Renal Clear Cell Carcinoma (Phase 1 Biomarker Trial, Clin Cancer Res. 2016) - iAtlas Harmonized ccrcc_iatlas_choueiri_2016

16 cases with simple somatic mutation data · 16 cases total · 2026-02-16 · mapped to Clear Cell Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SETD2	Ssm	10	16	62.5%	cbioportal
2	VHL	Ssm	8	16	50%	cbioportal
3	PBRM1	Ssm	6	16	37.5%	cbioportal
5	FBXL13	Ssm	4	16	25%	cbioportal
4	BTG4	Ssm	4	16	25%	cbioportal
6	ZFC3H1	Ssm	4	16	25%	cbioportal
17	SLC9A9	Ssm	3	16	18.8%	cbioportal
16	SCUBE2	Ssm	3	16	18.8%	cbioportal
15	PRKDC	Ssm	3	16	18.8%	cbioportal
14	MYO10	Ssm	3	16	18.8%	cbioportal
13	LRP2	Ssm	3	16	18.8%	cbioportal
12	HUWE1	Ssm	3	16	18.8%	cbioportal
11	HEATR1	Ssm	3	16	18.8%	cbioportal
10	FNDC1	Ssm	3	16	18.8%	cbioportal
9	DMXL2	Ssm	3	16	18.8%	cbioportal
8	CENPB	Ssm	3	16	18.8%	cbioportal
7	ARHGAP39	Ssm	3	16	18.8%	cbioportal
23	VCPIP1	Ssm	3	16	18.8%	cbioportal
24	WDR47	Ssm	3	16	18.8%	cbioportal
22	UBR4	Ssm	3	16	18.8%	cbioportal
21	TTN	Ssm	3	16	18.8%	cbioportal
20	SYNE1	Ssm	3	16	18.8%	cbioportal
19	SRPK1	Ssm	3	16	18.8%	cbioportal
18	SPEF2	Ssm	3	16	18.8%	cbioportal
27	ADAMTS20	Ssm	2	16	12.5%	cbioportal
29	ADAR	Ssm	2	16	12.5%	cbioportal
28	ADAMTSL3	Ssm	2	16	12.5%	cbioportal
26	ABCC2	Ssm	2	16	12.5%	cbioportal
25	ABCA5	Ssm	2	16	12.5%	cbioportal
73	FBXO11	Ssm	2	16	12.5%	cbioportal

Data updated 22 days agoSource updated 2026-02-16

Metastatic Triple Negative Breast Cancer (UNC Phase II Trial, J Immunother Cancer 2022) - iAtlas Harmonized brca_iatlas_anders_2022

25 cases with simple somatic mutation data · 31 cases total · 2026-02-11 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	18	25	72%	cbioportal
2	TTN	Ssm	7	25	28%	cbioportal
6	OBSCN	Ssm	6	25	24%	cbioportal
4	FAT1	Ssm	6	25	24%	cbioportal
8	SPTA1	Ssm	6	25	24%	cbioportal
5	LAMA5	Ssm	6	25	24%	cbioportal
3	DST	Ssm	6	25	24%	cbioportal
7	RYR2	Ssm	6	25	24%	cbioportal
13	PLEC	Ssm	5	25	20%	cbioportal
14	RYR1	Ssm	5	25	20%	cbioportal
15	SRCAP	Ssm	5	25	20%	cbioportal
16	SYNE1	Ssm	5	25	20%	cbioportal
9	AEBP1	Ssm	5	25	20%	cbioportal
10	FASN	Ssm	5	25	20%	cbioportal
11	PAPPA2	Ssm	5	25	20%	cbioportal
12	PKHD1L1	Ssm	5	25	20%	cbioportal
21	CARD10	Ssm	4	25	16%	cbioportal
22	CEMIP2	Ssm	4	25	16%	cbioportal
23	CUX2	Ssm	4	25	16%	cbioportal
24	DNAH9	Ssm	4	25	16%	cbioportal
25	ERICH3	Ssm	4	25	16%	cbioportal
26	FAT4	Ssm	4	25	16%	cbioportal
27	FGFR3	Ssm	4	25	16%	cbioportal
28	GOLGA2	Ssm	4	25	16%	cbioportal
29	KMT2A	Ssm	4	25	16%	cbioportal
30	KMT2B	Ssm	4	25	16%	cbioportal
17	ADGRG5	Ssm	4	25	16%	cbioportal
18	ARHGAP32	Ssm	4	25	16%	cbioportal
19	ATP2B1	Ssm	4	25	16%	cbioportal
20	CACNA1A	Ssm	4	25	16%	cbioportal

Data updated 22 days agoSource updated 2026-02-11

Molecular Profiling to Predict Response to Treatment - Wilms Tumor MP2PRT-WTMP2PRT

51 cases with simple somatic mutation data · 52 cases total · Data Release 46.0 · mapped to Wilms Tumor ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
26	ACP6	Ssm	22	51	43.1%	gdc
1	H2AC20	Ssm	22	51	43.1%	gdc
2	MTRNR2L6	Ssm	22	51	43.1%	gdc
3	TMEM52B	Ssm	22	51	43.1%	gdc
4	H2BC18	Ssm	22	51	43.1%	gdc
5	LINGO4	Ssm	22	51	43.1%	gdc
6	CLEC9A	Ssm	22	51	43.1%	gdc
7	MCL1	Ssm	22	51	43.1%	gdc
8	TUFT1	Ssm	22	51	43.1%	gdc
9	THEM5	Ssm	22	51	43.1%	gdc
10	ECM1	Ssm	22	51	43.1%	gdc
11	NBPF12	Ssm	22	51	43.1%	gdc
12	LCE1F	Ssm	22	51	43.1%	gdc
13	PSMB4	Ssm	22	51	43.1%	gdc
14	CHD1L	Ssm	22	51	43.1%	gdc
15	VPS45	Ssm	22	51	43.1%	gdc
16	FLG	Ssm	22	51	43.1%	gdc
17	SELENBP1	Ssm	22	51	43.1%	gdc
18	POGZ	Ssm	22	51	43.1%	gdc
19	LCE3C	Ssm	22	51	43.1%	gdc
20	LCE3B	Ssm	22	51	43.1%	gdc
21	PRPF3	Ssm	22	51	43.1%	gdc
22	CA14	Ssm	22	51	43.1%	gdc
23	H3C13	Ssm	22	51	43.1%	gdc
24	RFX5	Ssm	22	51	43.1%	gdc
25	TCHHL1	Ssm	22	51	43.1%	gdc
27	CLEC1A	Ssm	22	51	43.1%	gdc
28	LCE4A	Ssm	22	51	43.1%	gdc
29	CLEC12B	Ssm	22	51	43.1%	gdc
30	MRPL9	Ssm	22	51	43.1%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Multiple Myeloma (Broad, Cancer Cell 2014) mm_broadBroad

205 cases with simple somatic mutation data · 211 cases total · 2026-01-08 · mapped to Multiple Myeloma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	45	205	22%	cbioportal
2	NRAS	Ssm	37	205	18%	cbioportal
3	DIS3	Ssm	19	205	9.3%	cbioportal
5	ZNF717	Ssm	17	205	8.3%	cbioportal
4	TTN	Ssm	17	205	8.3%	cbioportal
6	TENT5C	Ssm	15	205	7.3%	cbioportal
7	TP53	Ssm	15	205	7.3%	cbioportal
8	BRAF	Ssm	13	205	6.3%	cbioportal
9	MUC16	Ssm	13	205	6.3%	cbioportal
11	RYR2	Ssm	11	205	5.4%	cbioportal
10	LRP1B	Ssm	11	205	5.4%	cbioportal
12	FAT3	Ssm	10	205	4.9%	cbioportal
17	TRIO	Ssm	9	205	4.4%	cbioportal
16	NEB	Ssm	9	205	4.4%	cbioportal
15	HYDIN	Ssm	9	205	4.4%	cbioportal
14	DNAH9	Ssm	9	205	4.4%	cbioportal
13	DNAH5	Ssm	9	205	4.4%	cbioportal
18	CSMD2	Ssm	8	205	3.9%	cbioportal
20	KALRN	Ssm	8	205	3.9%	cbioportal
21	SVIL	Ssm	8	205	3.9%	cbioportal
19	GRIA2	Ssm	8	205	3.9%	cbioportal
23	CCND1	Ssm	7	205	3.4%	cbioportal
30	SI	Ssm	7	205	3.4%	cbioportal
29	NRXN1	Ssm	7	205	3.4%	cbioportal
28	HMCN1	Ssm	7	205	3.4%	cbioportal
27	FBN2	Ssm	7	205	3.4%	cbioportal
26	EGR1	Ssm	7	205	3.4%	cbioportal
25	COL21A1	Ssm	7	205	3.4%	cbioportal
24	CHD3	Ssm	7	205	3.4%	cbioportal
22	ADAMTS9	Ssm	7	205	3.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Multiple Myeloma CoMMpass Study MMRF-COMMPASSMMRF

961 cases with simple somatic mutation data · 995 cases total · Data Release 46.0 · mapped to Multiple Myeloma CURATED_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IGHV2-70	Ssm	437	961	45.5%	gdc
2	IGLV3-1	Ssm	364	961	37.9%	gdc
3	IGHV2-70D	Ssm	238	961	24.8%	gdc
4	KRAS	Ssm	227	961	23.6%	gdc
5	BCL7A	Ssm	212	961	22.1%	gdc
6	IGLL5	Ssm	211	961	22%	gdc
7	LTB	Ssm	186	961	19.4%	gdc
8	NRAS	Ssm	183	961	19%	gdc
9	TTN	Ssm	181	961	18.8%	gdc
10	MIR5195	Ssm	143	961	14.9%	gdc
11	TENT5C	Ssm	115	961	12%	gdc
12	IGHV1-69D	Ssm	115	961	12%	gdc
13	MUC16	Ssm	102	961	10.6%	gdc
14	BMP6	Ssm	100	961	10.4%	gdc
15	IGKV4-1	Ssm	99	961	10.3%	gdc
16	DIS3	Ssm	97	961	10.1%	gdc
17	TMSB4X	Ssm	97	961	10.1%	gdc
18	TRAF3	Ssm	86	961	8.9%	gdc
19	CSMD3	Ssm	84	961	8.7%	gdc
20	FAT4	Ssm	84	961	8.7%	gdc
21	RYR2	Ssm	81	961	8.4%	gdc
22	PCDH15	Ssm	79	961	8.2%	gdc
23	FAT3	Ssm	78	961	8.1%	gdc
24	PCLO	Ssm	76	961	7.9%	gdc
25	NRXN1	Ssm	75	961	7.8%	gdc
26	LRP1B	Ssm	73	961	7.6%	gdc
28	IGLV4-60	Ssm	71	961	7.4%	gdc
27	USH2A	Ssm	71	961	7.4%	gdc
29	DUSP2	Ssm	70	961	7.3%	gdc
30	BRAF	Ssm	69	961	7.2%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Myelodysplasia (UTokyo, Nature 2011) mds_tokyo_2011UTokyo

29 cases with simple somatic mutation data · 29 cases total · 2026-01-08 · mapped to Myelodysplastic Syndrome EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TET2	Ssm	8	29	27.6%	cbioportal
3	ZRSR2	Ssm	5	29	17.2%	cbioportal
2	U2AF1	Ssm	5	29	17.2%	cbioportal
4	NRAS	Ssm	3	29	10.3%	cbioportal
5	SRSF2	Ssm	3	29	10.3%	cbioportal
10	KRAS	Ssm	2	29	6.9%	cbioportal
6	ASXL1	Ssm	2	29	6.9%	cbioportal
11	TP53	Ssm	2	29	6.9%	cbioportal
8	DNMT3A	Ssm	2	29	6.9%	cbioportal
7	BCOR	Ssm	2	29	6.9%	cbioportal
9	EZH2	Ssm	2	29	6.9%	cbioportal
29	C1QTNF3	Ssm	1	29	3.4%	cbioportal
28	BTBD10	Ssm	1	29	3.4%	cbioportal
27	BRCC3	Ssm	1	29	3.4%	cbioportal
26	ATRX	Ssm	1	29	3.4%	cbioportal
25	ATP6V0A2	Ssm	1	29	3.4%	cbioportal
24	ATP1A2	Ssm	1	29	3.4%	cbioportal
23	ATM	Ssm	1	29	3.4%	cbioportal
22	ARMC9	Ssm	1	29	3.4%	cbioportal
21	ARIH2	Ssm	1	29	3.4%	cbioportal
20	APOL6	Ssm	1	29	3.4%	cbioportal
19	APBA2	Ssm	1	29	3.4%	cbioportal
18	ANPEP	Ssm	1	29	3.4%	cbioportal
17	ANKRD34B	Ssm	1	29	3.4%	cbioportal
16	ALDH9A1	Ssm	1	29	3.4%	cbioportal
15	AGAP1	Ssm	1	29	3.4%	cbioportal
14	ADHFE1	Ssm	1	29	3.4%	cbioportal
13	ADGRL3	Ssm	1	29	3.4%	cbioportal
12	ABRAXAS1	Ssm	1	29	3.4%	cbioportal
166	POLR2A	Ssm	1	29	3.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Myelodysplastic (MSK, 2020) mds_mskcc_2020MSK

4,231 cases with simple somatic mutation data · 4,231 cases total · 2026-01-08 · mapped to Myelodysplastic Syndrome EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	DNMT3A	Ssm	853	4,231	20.2%	cbioportal
2	TET2	Ssm	683	4,231	16.1%	cbioportal
3	NPM1	Ssm	674	4,231	15.9%	cbioportal
4	NRAS	Ssm	492	4,231	11.6%	cbioportal
5	FLT3	Ssm	475	4,231	11.2%	cbioportal
6	ASXL1	Ssm	434	4,231	10.3%	cbioportal
7	SRSF2	Ssm	415	4,231	9.8%	cbioportal
8	RUNX1	Ssm	408	4,231	9.6%	cbioportal
9	TP53	Ssm	399	4,231	9.4%	cbioportal
10	SF3B1	Ssm	378	4,231	8.9%	cbioportal
11	IDH2	Ssm	359	4,231	8.5%	cbioportal
12	JAK2	Ssm	336	4,231	7.9%	cbioportal
33	MUC4	Ssm	69	1,026	6.7%	cbioportal
13	IDH1	Ssm	263	4,231	6.2%	cbioportal
35	NBPF10	Ssm	59	1,026	5.8%	cbioportal
14	PTPN11	Ssm	217	4,231	5.1%	cbioportal
15	U2AF1	Ssm	202	4,231	4.8%	cbioportal
40	MUC12	Ssm	47	1,026	4.6%	cbioportal
16	CEBPA	Ssm	193	4,231	4.6%	cbioportal
17	STAG2	Ssm	188	4,231	4.4%	cbioportal
18	KRAS	Ssm	184	4,231	4.3%	cbioportal
19	WT1	Ssm	179	4,231	4.2%	cbioportal
20	EZH2	Ssm	170	4,231	4%	cbioportal
21	BCOR	Ssm	157	4,231	3.7%	cbioportal
48	MUC2	Ssm	38	1,026	3.7%	cbioportal
47	FCGBP	Ssm	38	1,026	3.7%	cbioportal
49	NBPF1	Ssm	37	1,026	3.6%	cbioportal
52	HRNR	Ssm	34	1,026	3.3%	cbioportal
31	CALR	Ssm	72	2,268	3.2%	cbioportal
22	CBL	Ssm	134	4,231	3.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Myelodysplastic Syndromes (MDS IWG, IPSSM, NEJM Evidence 2022) mds_iwg_2022MDS IWG

3,323 cases with simple somatic mutation data · 3,323 cases total · 2026-01-08 · mapped to Myelodysplastic Syndrome EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TET2	Ssm	1,051	3,323	31.6%	cbioportal
2	ASXL1	Ssm	944	3,323	28.4%	cbioportal
3	SF3B1	Ssm	754	3,323	22.7%	cbioportal
4	SRSF2	Ssm	578	3,323	17.4%	cbioportal
5	DNMT3A	Ssm	540	3,323	16.3%	cbioportal
6	RUNX1	Ssm	471	3,323	14.2%	cbioportal
7	TP53	Ssm	397	3,323	11.9%	cbioportal
8	STAG2	Ssm	312	3,323	9.4%	cbioportal
9	U2AF1	Ssm	289	3,323	8.7%	cbioportal
10	EZH2	Ssm	243	3,323	7.3%	cbioportal
11	KMT2D	Ssm	224	3,323	6.7%	cbioportal
12	BCOR	Ssm	220	3,323	6.6%	cbioportal
13	ZRSR2	Ssm	201	3,323	6%	cbioportal
14	CBL	Ssm	200	3,323	6%	cbioportal
15	CUX1	Ssm	192	3,323	5.8%	cbioportal
16	NF1	Ssm	188	3,323	5.7%	cbioportal
17	SETBP1	Ssm	188	3,323	5.7%	cbioportal
18	IDH2	Ssm	180	3,323	5.4%	cbioportal
19	NRAS	Ssm	179	3,323	5.4%	cbioportal
20	KMT2C	Ssm	168	3,323	5.1%	cbioportal
21	SRCAP	Ssm	153	3,323	4.6%	cbioportal
22	JAK2	Ssm	135	3,323	4.1%	cbioportal
23	NOTCH1	Ssm	135	3,323	4.1%	cbioportal
24	EP300	Ssm	132	3,323	4%	cbioportal
25	MGA	Ssm	129	3,323	3.9%	cbioportal
26	KRAS	Ssm	128	3,323	3.9%	cbioportal
27	DDX41	Ssm	125	3,323	3.8%	cbioportal
28	YLPM1	Ssm	121	3,323	3.6%	cbioportal
29	PHF6	Ssm	115	3,323	3.5%	cbioportal
30	KMT2A	Ssm	113	3,323	3.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Myeloproliferative Neoplasms (CIMR, NEJM 2013) mpn_cimr_2013CIMR

151 cases with simple somatic mutation data · 151 cases total · 2026-01-08 · mapped to Myeloproliferative Neoplasm EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	JAK2	Ssm	112	151	74.2%	cbioportal
2	CALR	Ssm	25	151	16.6%	cbioportal
3	TET2	Ssm	21	151	13.9%	cbioportal
4	ASXL1	Ssm	12	151	7.9%	cbioportal
5	DNMT3A	Ssm	12	151	7.9%	cbioportal
6	MPL	Ssm	7	151	4.6%	cbioportal
7	EZH2	Ssm	4	151	2.6%	cbioportal
8	U2AF1	Ssm	4	151	2.6%	cbioportal
15	TP53	Ssm	3	151	2%	cbioportal
14	TG	Ssm	3	151	2%	cbioportal
13	SF3B1	Ssm	3	151	2%	cbioportal
12	MUC16	Ssm	3	151	2%	cbioportal
11	KSR2	Ssm	3	151	2%	cbioportal
10	HUWE1	Ssm	3	151	2%	cbioportal
9	CHEK2	Ssm	3	151	2%	cbioportal
30	EPHA2	Ssm	2	151	1.3%	cbioportal
27	DRC1	Ssm	2	151	1.3%	cbioportal
28	DTNA	Ssm	2	151	1.3%	cbioportal
29	ELAPOR1	Ssm	2	151	1.3%	cbioportal
20	ATM	Ssm	2	151	1.3%	cbioportal
21	CACNA1E	Ssm	2	151	1.3%	cbioportal
22	CACNA2D3	Ssm	2	151	1.3%	cbioportal
23	CMYA5	Ssm	2	151	1.3%	cbioportal
24	COL1A1	Ssm	2	151	1.3%	cbioportal
25	CSMD1	Ssm	2	151	1.3%	cbioportal
18	ARHGAP32	Ssm	2	151	1.3%	cbioportal
17	ANKRD30A	Ssm	2	151	1.3%	cbioportal
16	ABCC9	Ssm	2	151	1.3%	cbioportal
19	ASPM	Ssm	2	151	1.3%	cbioportal
26	DICER1	Ssm	2	151	1.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Myoepithelial Carcinomas of Soft Tissue (WCM, CSH Molecular Case Studies 2022) stmyec_wcm_2022WCM

12 cases with simple somatic mutation data · 12 cases total · 2026-01-13 · mapped to Malignant Myoepithelioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CORO2A	Ssm	6	12	50%	cbioportal
5	SPECC1	Ssm	5	12	41.7%	cbioportal
7	SYT7	Ssm	5	12	41.7%	cbioportal
6	STON1	Ssm	5	12	41.7%	cbioportal
2	COL4A2	Ssm	5	12	41.7%	cbioportal
3	KCNJ10	Ssm	5	12	41.7%	cbioportal
4	OXA1L	Ssm	5	12	41.7%	cbioportal
13	NUP50	Ssm	4	12	33.3%	cbioportal
14	RBM14-RBM4	Ssm	4	12	33.3%	cbioportal
8	CDCP1	Ssm	4	12	33.3%	cbioportal
9	DCHS1	Ssm	4	12	33.3%	cbioportal
10	EPPK1	Ssm	4	12	33.3%	cbioportal
11	FRAS1	Ssm	4	12	33.3%	cbioportal
12	ITGB4	Ssm	4	12	33.3%	cbioportal
17	SCNN1G	Ssm	3	12	25%	cbioportal
16	PTGFR	Ssm	3	12	25%	cbioportal
15	POLE	Ssm	3	12	25%	cbioportal
23	TMEM121	Ssm	2	12	16.7%	cbioportal
22	TGFBR1	Ssm	2	12	16.7%	cbioportal
21	PTPN21	Ssm	2	12	16.7%	cbioportal
20	PRSS1	Ssm	2	12	16.7%	cbioportal
19	LRP10	Ssm	2	12	16.7%	cbioportal
18	CELF4	Ssm	2	12	16.7%	cbioportal
30	CCDC28A	Ssm	1	12	8.3%	cbioportal
24	AMPD3	Ssm	1	12	8.3%	cbioportal
25	ARHGEF2	Ssm	1	12	8.3%	cbioportal
26	ARHGEF40	Ssm	1	12	8.3%	cbioportal
27	ARIH2	Ssm	1	12	8.3%	cbioportal
28	ASMTL	Ssm	1	12	8.3%	cbioportal
29	BRAF	Ssm	1	12	8.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Nasopharyngeal Carcinoma (Singapore, Nat Genet 2014) npc_nusingaporeSingapore

56 cases with simple somatic mutation data · 56 cases total · 2026-01-08 · mapped to Nasopharyngeal Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	7	56	12.5%	cbioportal
2	TTN	Ssm	5	56	8.9%	cbioportal
4	SYNE1	Ssm	4	56	7.1%	cbioportal
3	MUC17	Ssm	4	56	7.1%	cbioportal
5	AQP7	Ssm	3	56	5.4%	cbioportal
6	BAP1	Ssm	3	56	5.4%	cbioportal
7	CSMD1	Ssm	3	56	5.4%	cbioportal
8	FAT2	Ssm	3	56	5.4%	cbioportal
12	PTPRS	Ssm	3	56	5.4%	cbioportal
15	TET2	Ssm	3	56	5.4%	cbioportal
14	SRCAP	Ssm	3	56	5.4%	cbioportal
17	ZNF462	Ssm	3	56	5.4%	cbioportal
16	TFAP2D	Ssm	3	56	5.4%	cbioportal
9	FRY	Ssm	3	56	5.4%	cbioportal
13	RYR2	Ssm	3	56	5.4%	cbioportal
10	IGFN1	Ssm	3	56	5.4%	cbioportal
11	KMT2D	Ssm	3	56	5.4%	cbioportal
29	CACNA1A	Ssm	2	56	3.6%	cbioportal
27	ATG13	Ssm	2	56	3.6%	cbioportal
25	ARID1A	Ssm	2	56	3.6%	cbioportal
24	ARFGEF3	Ssm	2	56	3.6%	cbioportal
23	APOA5	Ssm	2	56	3.6%	cbioportal
22	AHCTF1	Ssm	2	56	3.6%	cbioportal
21	ADGRL2	Ssm	2	56	3.6%	cbioportal
20	ADGRD1	Ssm	2	56	3.6%	cbioportal
19	ADAMTSL1	Ssm	2	56	3.6%	cbioportal
18	ABCC10	Ssm	2	56	3.6%	cbioportal
26	ATAD2	Ssm	2	56	3.6%	cbioportal
30	CCDC27	Ssm	2	56	3.6%	cbioportal
28	ATG7	Ssm	2	56	3.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Neuroblastoma TARGET-NBLTARGET

696 cases with simple somatic mutation data · 1,132 cases total · Data Release 46.0 · mapped to Neuroblastoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC16	Ssm	20	696	2.9%	gdc
2	ALK	Ssm	19	696	2.7%	gdc
3	TTN	Ssm	15	696	2.2%	gdc
4	FLG	Ssm	10	696	1.4%	gdc
5	ABCA13	Ssm	9	696	1.3%	gdc
6	FAT2	Ssm	8	696	1.1%	gdc
7	FBN2	Ssm	8	696	1.1%	gdc
9	MUC17	Ssm	8	696	1.1%	gdc
8	AHNAK2	Ssm	8	696	1.1%	gdc
13	PTPN11	Ssm	7	696	1%	gdc
12	KIAA1109	Ssm	7	696	1%	gdc
11	HMCN1	Ssm	7	696	1%	gdc
10	DNAH17	Ssm	7	696	1%	gdc
16	SYNE2	Ssm	6	696	0.9%	gdc
14	TNC	Ssm	6	696	0.9%	gdc
20	COL4A1	Ssm	6	696	0.9%	gdc
19	RYR1	Ssm	6	696	0.9%	gdc
18	AHNAK	Ssm	6	696	0.9%	gdc
17	LRP1B	Ssm	6	696	0.9%	gdc
15	SPTA1	Ssm	6	696	0.9%	gdc
29	DCHS2	Ssm	5	696	0.7%	gdc
27	TCHH	Ssm	5	696	0.7%	gdc
26	USH2A	Ssm	5	696	0.7%	gdc
25	DNAH3	Ssm	5	696	0.7%	gdc
24	DOCK8	Ssm	5	696	0.7%	gdc
23	FRAS1	Ssm	5	696	0.7%	gdc
22	DNAH11	Ssm	5	696	0.7%	gdc
21	ABCA9	Ssm	5	696	0.7%	gdc
30	RELN	Ssm	5	696	0.7%	gdc
28	RP1	Ssm	5	696	0.7%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Neuroblastoma (AMC Amsterdam, Nature 2012) nbl_amc_2012AMC Amsterdam

87 cases with simple somatic mutation data · 87 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ZNF717	Ssm	6	87	6.9%	cbioportal
2	ALK	Ssm	5	87	5.7%	cbioportal
3	TIAM1	Ssm	3	87	3.4%	cbioportal
13	NALCN	Ssm	2	87	2.3%	cbioportal
14	NEB	Ssm	2	87	2.3%	cbioportal
15	PDE8B	Ssm	2	87	2.3%	cbioportal
16	RFESD	Ssm	2	87	2.3%	cbioportal
17	RYR1	Ssm	2	87	2.3%	cbioportal
18	TMC3	Ssm	2	87	2.3%	cbioportal
19	WDR87	Ssm	2	87	2.3%	cbioportal
20	ZNF462	Ssm	2	87	2.3%	cbioportal
4	AKAP9	Ssm	2	87	2.3%	cbioportal
5	ANO8	Ssm	2	87	2.3%	cbioportal
6	ARHGAP10	Ssm	2	87	2.3%	cbioportal
7	ATP13A5	Ssm	2	87	2.3%	cbioportal
8	DAG1	Ssm	2	87	2.3%	cbioportal
9	DYSF	Ssm	2	87	2.3%	cbioportal
10	FAN1	Ssm	2	87	2.3%	cbioportal
11	FRMPD2	Ssm	2	87	2.3%	cbioportal
12	MYOM2	Ssm	2	87	2.3%	cbioportal
25	ACTR6	Ssm	1	87	1.1%	cbioportal
24	ACTR3	Ssm	1	87	1.1%	cbioportal
23	ACE	Ssm	1	87	1.1%	cbioportal
22	ABCA1	Ssm	1	87	1.1%	cbioportal
31	ADCY10	Ssm	1	87	1.1%	cbioportal
30	ADAMTS14	Ssm	1	87	1.1%	cbioportal
29	ADAMTS10	Ssm	1	87	1.1%	cbioportal
28	ADAM30	Ssm	1	87	1.1%	cbioportal
27	ADAM20	Ssm	1	87	1.1%	cbioportal
26	ACTR8	Ssm	1	87	1.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Neuroblastoma (Broad, Nat Genet 2013) nbl_broad_2013Broad

240 cases with simple somatic mutation data · 240 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	22	240	9.2%	cbioportal
2	MUC16	Ssm	15	240	6.3%	cbioportal
3	TTN	Ssm	12	240	5%	cbioportal
4	AHNAK2	Ssm	8	240	3.3%	cbioportal
7	PTPN11	Ssm	7	240	2.9%	cbioportal
5	FAT2	Ssm	7	240	2.9%	cbioportal
6	FLG	Ssm	7	240	2.9%	cbioportal
9	ATRX	Ssm	6	240	2.5%	cbioportal
8	ABCA13	Ssm	6	240	2.5%	cbioportal
10	BLTP1	Ssm	6	240	2.5%	cbioportal
11	HMCN1	Ssm	6	240	2.5%	cbioportal
12	LRP1B	Ssm	6	240	2.5%	cbioportal
13	RYR1	Ssm	6	240	2.5%	cbioportal
14	SPTA1	Ssm	6	240	2.5%	cbioportal
15	TNXB	Ssm	6	240	2.5%	cbioportal
18	DOCK8	Ssm	5	240	2.1%	cbioportal
19	FBN2	Ssm	5	240	2.1%	cbioportal
20	FREM2	Ssm	5	240	2.1%	cbioportal
21	MUC17	Ssm	5	240	2.1%	cbioportal
22	NBPF10	Ssm	5	240	2.1%	cbioportal
23	SYNE2	Ssm	5	240	2.1%	cbioportal
24	TCHH	Ssm	5	240	2.1%	cbioportal
25	TNC	Ssm	5	240	2.1%	cbioportal
16	AHNAK	Ssm	5	240	2.1%	cbioportal
17	DNAH5	Ssm	5	240	2.1%	cbioportal
28	ATP10B	Ssm	4	240	1.7%	cbioportal
26	ADAMTS7	Ssm	4	240	1.7%	cbioportal
27	APOB	Ssm	4	240	1.7%	cbioportal
29	DNAH1	Ssm	4	240	1.7%	cbioportal
30	DNAH3	Ssm	4	240	1.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Neuroblastoma (Broad, Nature 2015) nbl_ucologne_2015Broad

56 cases with simple somatic mutation data · 56 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	5	56	8.9%	cbioportal
2	MUC16	Ssm	3	56	5.4%	cbioportal
15	LHCGR	Ssm	2	56	3.6%	cbioportal
17	MYH1	Ssm	2	56	3.6%	cbioportal
26	XIRP2	Ssm	2	56	3.6%	cbioportal
25	WWP1	Ssm	2	56	3.6%	cbioportal
24	TTN	Ssm	2	56	3.6%	cbioportal
23	TNXB	Ssm	2	56	3.6%	cbioportal
22	TBP	Ssm	2	56	3.6%	cbioportal
5	CASR	Ssm	2	56	3.6%	cbioportal
4	BAIAP2L2	Ssm	2	56	3.6%	cbioportal
3	AHNAK2	Ssm	2	56	3.6%	cbioportal
12	ITGAE	Ssm	2	56	3.6%	cbioportal
13	KRT10	Ssm	2	56	3.6%	cbioportal
14	LATS2	Ssm	2	56	3.6%	cbioportal
16	MUC17	Ssm	2	56	3.6%	cbioportal
18	NEB	Ssm	2	56	3.6%	cbioportal
21	SNX21	Ssm	2	56	3.6%	cbioportal
20	PDE6A	Ssm	2	56	3.6%	cbioportal
19	PCDHB12	Ssm	2	56	3.6%	cbioportal
11	IGFN1	Ssm	2	56	3.6%	cbioportal
10	HGSNAT	Ssm	2	56	3.6%	cbioportal
9	GJA3	Ssm	2	56	3.6%	cbioportal
8	GIGYF2	Ssm	2	56	3.6%	cbioportal
7	DSC2	Ssm	2	56	3.6%	cbioportal
6	COL5A3	Ssm	2	56	3.6%	cbioportal
178	DIAPH3	Ssm	1	56	1.8%	cbioportal
27	ABCA2	Ssm	1	56	1.8%	cbioportal
28	ABCC12	Ssm	1	56	1.8%	cbioportal
29	ABCC4	Ssm	1	56	1.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Neuroblastoma (TARGET GDC, 2025) nbl_target_gdcTARGET GDC

471 cases with simple somatic mutation data · 533 cases total · 2026-01-14 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	64	471	13.6%	cbioportal
2	MUC16	Ssm	16	471	3.4%	cbioportal
3	ATRX	Ssm	13	471	2.8%	cbioportal
4	PTPN11	Ssm	12	471	2.5%	cbioportal
5	DNAH2	Ssm	10	471	2.1%	cbioportal
6	FLG	Ssm	9	471	1.9%	cbioportal
9	AHNAK2	Ssm	8	471	1.7%	cbioportal
16	TTN	Ssm	8	471	1.7%	cbioportal
13	MYH2	Ssm	8	471	1.7%	cbioportal
11	DOCK8	Ssm	8	471	1.7%	cbioportal
14	RYR1	Ssm	8	471	1.7%	cbioportal
15	TNC	Ssm	8	471	1.7%	cbioportal
12	FAT2	Ssm	8	471	1.7%	cbioportal
10	COL5A3	Ssm	8	471	1.7%	cbioportal
8	AHNAK	Ssm	8	471	1.7%	cbioportal
7	ABCA13	Ssm	8	471	1.7%	cbioportal
17	FBN2	Ssm	7	471	1.5%	cbioportal
18	RELN	Ssm	7	471	1.5%	cbioportal
27	NF1	Ssm	6	471	1.3%	cbioportal
26	MYCN	Ssm	6	471	1.3%	cbioportal
19	COL12A1	Ssm	6	471	1.3%	cbioportal
20	COL4A1	Ssm	6	471	1.3%	cbioportal
21	DNAH17	Ssm	6	471	1.3%	cbioportal
22	HMCN1	Ssm	6	471	1.3%	cbioportal
23	LRIF1	Ssm	6	471	1.3%	cbioportal
24	LRP1B	Ssm	6	471	1.3%	cbioportal
25	MET	Ssm	6	471	1.3%	cbioportal
28	SPTA1	Ssm	6	471	1.3%	cbioportal
41	SYNE2	Ssm	5	471	1.1%	cbioportal
40	RP1	Ssm	5	471	1.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Neuroendocrine Prostate Cancer (Multi-Institute, Nat Med 2016) nepc_wcm_2016Multi-Institute

114 cases with simple somatic mutation data · 114 cases total · 2026-01-08 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	27	114	23.7%	cbioportal
2	TTN	Ssm	21	114	18.4%	cbioportal
3	SPOP	Ssm	13	114	11.4%	cbioportal
4	MUC16	Ssm	11	114	9.6%	cbioportal
5	OBSCN	Ssm	10	114	8.8%	cbioportal
11	ZNF626	Ssm	9	114	7.9%	cbioportal
9	TMC8	Ssm	9	114	7.9%	cbioportal
6	FOXA1	Ssm	9	114	7.9%	cbioportal
7	HMCN1	Ssm	9	114	7.9%	cbioportal
8	SHANK1	Ssm	9	114	7.9%	cbioportal
10	ZNF208	Ssm	9	114	7.9%	cbioportal
12	ZNF729	Ssm	9	114	7.9%	cbioportal
13	CPD	Ssm	8	114	7%	cbioportal
14	DNAH3	Ssm	8	114	7%	cbioportal
15	DYNC1H1	Ssm	8	114	7%	cbioportal
20	RB1	Ssm	8	114	7%	cbioportal
21	ZNFX1	Ssm	8	114	7%	cbioportal
18	LTBP1	Ssm	8	114	7%	cbioportal
19	METTL24	Ssm	8	114	7%	cbioportal
17	KMO	Ssm	8	114	7%	cbioportal
16	FSIP2	Ssm	8	114	7%	cbioportal
24	COL14A1	Ssm	7	114	6.1%	cbioportal
22	ADRM1	Ssm	7	114	6.1%	cbioportal
30	SLC44A5	Ssm	7	114	6.1%	cbioportal
27	NR2E1	Ssm	7	114	6.1%	cbioportal
26	NBPF3	Ssm	7	114	6.1%	cbioportal
25	CSMD3	Ssm	7	114	6.1%	cbioportal
23	CHRNA3	Ssm	7	114	6.1%	cbioportal
29	PIWIL2	Ssm	7	114	6.1%	cbioportal
28	OR9A4	Ssm	7	114	6.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Non-Hodgkin Lymphoma (BCGSC, Nature 2011) nhl_bcgsc_2011BCGSC

14 cases with simple somatic mutation data · 14 cases total · 2026-01-08 · mapped to Non-Hodgkin Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	EZH2	Ssm	4	14	28.6%	cbioportal
4	WDFY3	Ssm	3	14	21.4%	cbioportal
3	CNTNAP5	Ssm	3	14	21.4%	cbioportal
2	CMYA5	Ssm	3	14	21.4%	cbioportal
10	DSEL	Ssm	2	14	14.3%	cbioportal
5	CARD11	Ssm	2	14	14.3%	cbioportal
6	CFAP43	Ssm	2	14	14.3%	cbioportal
7	CREBBP	Ssm	2	14	14.3%	cbioportal
8	CTNND2	Ssm	2	14	14.3%	cbioportal
9	CXCR5	Ssm	2	14	14.3%	cbioportal
11	DSG4	Ssm	2	14	14.3%	cbioportal
12	FAS	Ssm	2	14	14.3%	cbioportal
13	FAT2	Ssm	2	14	14.3%	cbioportal
14	H1-2	Ssm	2	14	14.3%	cbioportal
15	H2AC6	Ssm	2	14	14.3%	cbioportal
16	H2BC5	Ssm	2	14	14.3%	cbioportal
17	IRF8	Ssm	2	14	14.3%	cbioportal
18	ITPR2	Ssm	2	14	14.3%	cbioportal
19	KMT2D	Ssm	2	14	14.3%	cbioportal
20	LINC02915	Ssm	2	14	14.3%	cbioportal
21	MAGEB18	Ssm	2	14	14.3%	cbioportal
22	MEF2B	Ssm	2	14	14.3%	cbioportal
23	MPDZ	Ssm	2	14	14.3%	cbioportal
24	MUC16	Ssm	2	14	14.3%	cbioportal
25	P2RY8	Ssm	2	14	14.3%	cbioportal
26	SEMA5A	Ssm	2	14	14.3%	cbioportal
27	SGK1	Ssm	2	14	14.3%	cbioportal
28	SPEF2	Ssm	2	14	14.3%	cbioportal
29	SPTBN5	Ssm	2	14	14.3%	cbioportal
30	STRIP2	Ssm	2	14	14.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Nonmuscle Invasive Bladder Cancer (MSK Eur Urol 2017) blca_nmibc_2017

105 cases with simple somatic mutation data · 105 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	77	105	73.3%	cbioportal
2	KDM6A	Ssm	50	105	47.6%	cbioportal
3	FGFR3	Ssm	47	105	44.8%	cbioportal
4	ARID1A	Ssm	30	105	28.6%	cbioportal
5	PIK3CA	Ssm	29	105	27.6%	cbioportal
6	KMT2D	Ssm	25	105	23.8%	cbioportal
7	CREBBP	Ssm	22	105	21%	cbioportal
8	STAG2	Ssm	22	105	21%	cbioportal
9	TP53	Ssm	22	105	21%	cbioportal
10	ERBB2	Ssm	19	105	18.1%	cbioportal
11	ERCC2	Ssm	18	105	17.1%	cbioportal
12	ARID1B	Ssm	17	105	16.2%	cbioportal
13	FAT1	Ssm	17	105	16.2%	cbioportal
14	ATM	Ssm	16	105	15.2%	cbioportal
16	FBXW7	Ssm	15	105	14.3%	cbioportal
15	EP300	Ssm	15	105	14.3%	cbioportal
18	RBM10	Ssm	15	105	14.3%	cbioportal
17	PBRM1	Ssm	15	105	14.3%	cbioportal
19	MGA	Ssm	14	103	13.6%	cbioportal
20	BAP1	Ssm	13	105	12.4%	cbioportal
22	ERBB3	Ssm	12	105	11.4%	cbioportal
24	NF1	Ssm	12	105	11.4%	cbioportal
21	CDKN1A	Ssm	12	105	11.4%	cbioportal
23	KMT2C	Ssm	12	105	11.4%	cbioportal
28	TSC1	Ssm	11	105	10.5%	cbioportal
26	SMARCA4	Ssm	11	105	10.5%	cbioportal
27	SPEN	Ssm	11	105	10.5%	cbioportal
25	BRCA2	Ssm	11	105	10.5%	cbioportal
30	NCOR1	Ssm	10	105	9.5%	cbioportal
29	ATR	Ssm	10	105	9.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Non-Small Cell Cancer (MSK, Cancer Discov 2017) lung_msk_2017MSK

915 cases with simple somatic mutation data · 915 cases total · 2026-04-07 · mapped to Lung Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	485	915	53%	cbioportal
2	EGFR	Ssm	268	915	29.3%	cbioportal
3	KRAS	Ssm	241	915	26.3%	cbioportal
4	STK11	Ssm	157	915	17.2%	cbioportal
5	KEAP1	Ssm	153	915	16.7%	cbioportal
6	SMARCA4	Ssm	92	915	10.1%	cbioportal
7	PTPRD	Ssm	89	915	9.7%	cbioportal
8	RBM10	Ssm	78	915	8.5%	cbioportal
9	FAT1	Ssm	71	915	7.8%	cbioportal
10	ARID1A	Ssm	69	915	7.5%	cbioportal
12	PTPRT	Ssm	67	915	7.3%	cbioportal
11	NF1	Ssm	67	915	7.3%	cbioportal
13	ATM	Ssm	65	915	7.1%	cbioportal
14	PIK3CA	Ssm	65	915	7.1%	cbioportal
15	EPHA3	Ssm	59	915	6.4%	cbioportal
16	KMT2D	Ssm	58	915	6.3%	cbioportal
18	SETD2	Ssm	56	915	6.1%	cbioportal
17	HGF	Ssm	56	915	6.1%	cbioportal
19	KMT2C	Ssm	53	915	5.8%	cbioportal
20	ATRX	Ssm	52	915	5.7%	cbioportal
21	BRAF	Ssm	50	915	5.5%	cbioportal
23	RB1	Ssm	50	915	5.5%	cbioportal
22	EPHA5	Ssm	50	915	5.5%	cbioportal
42	ZFHX3	Ssm	34	623	5.5%	cbioportal
25	CDKN2A	Ssm	49	915	5.4%	cbioportal
24	APC	Ssm	49	915	5.4%	cbioportal
50	EPHA7	Ssm	31	623	5%	cbioportal
26	ARID2	Ssm	45	915	4.9%	cbioportal
27	NTRK3	Ssm	44	915	4.8%	cbioportal
55	MGA	Ssm	29	623	4.7%	cbioportal

Data updated 22 days agoSource updated 2026-04-07

Non-Small Cell Lung Cancer Brain Metastasis (MSK, Nat Commun 2023) bm_nsclc_mskcc_2023MSK

322 cases with simple somatic mutation data · 322 cases total · 2026-01-05 · mapped to Lung Non-Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	229	322	71.1%	cbioportal
2	KRAS	Ssm	90	322	28%	cbioportal
3	EGFR	Ssm	74	322	23%	cbioportal
4	KEAP1	Ssm	69	322	21.4%	cbioportal
5	STK11	Ssm	60	322	18.6%	cbioportal
6	PTPRT	Ssm	46	322	14.3%	cbioportal
7	ARID1A	Ssm	44	322	13.7%	cbioportal
8	SMARCA4	Ssm	42	322	13%	cbioportal
9	PTPRD	Ssm	38	322	11.8%	cbioportal
11	KMT2D	Ssm	37	322	11.5%	cbioportal
10	ATM	Ssm	37	322	11.5%	cbioportal
12	FAT1	Ssm	35	322	10.9%	cbioportal
13	NF1	Ssm	32	322	9.9%	cbioportal
17	ZFHX3	Ssm	30	304	9.9%	cbioportal
30	PREX2	Ssm	23	236	9.7%	cbioportal
14	CDKN2A	Ssm	31	322	9.6%	cbioportal
16	KMT2C	Ssm	30	322	9.3%	cbioportal
15	EPHA5	Ssm	30	322	9.3%	cbioportal
18	RB1	Ssm	29	322	9%	cbioportal
19	APC	Ssm	28	322	8.7%	cbioportal
20	EPHA3	Ssm	27	322	8.4%	cbioportal
21	HGF	Ssm	27	322	8.4%	cbioportal
22	RBM10	Ssm	27	322	8.4%	cbioportal
24	PIK3CA	Ssm	26	322	8.1%	cbioportal
23	CREBBP	Ssm	26	322	8.1%	cbioportal
25	SETD2	Ssm	25	322	7.8%	cbioportal
29	MGA	Ssm	23	304	7.6%	cbioportal
26	ALK	Ssm	24	322	7.5%	cbioportal
27	PDGFRA	Ssm	24	322	7.5%	cbioportal
28	FLT4	Ssm	23	322	7.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Non-Small Cell Lung Cancer (MSK, 2026) alk_msk_2026MSK

90 cases with simple somatic mutation data · 90 cases total · 2026-06-23 · mapped to Lung Non-Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	26	90	28.9%	cbioportal
2	ALK	Ssm	18	90	20%	cbioportal
5	USP8	Ssm	9	46	19.6%	cbioportal
3	CDKN2A	Ssm	11	90	12.2%	cbioportal
4	KMT2C	Ssm	10	90	11.1%	cbioportal
26	HLA-C	Ssm	5	46	10.9%	cbioportal
62	MTTP	Ssm	4	37	10.8%	cbioportal
58	MARCHF7	Ssm	4	37	10.8%	cbioportal
75	ZNF141	Ssm	4	37	10.8%	cbioportal
6	ZFHX3	Ssm	9	86	10.5%	cbioportal
7	SETD2	Ssm	8	90	8.9%	cbioportal
69	REST	Ssm	4	46	8.7%	cbioportal
13	MST1	Ssm	7	86	8.1%	cbioportal
130	SLFN13	Ssm	3	37	8.1%	cbioportal
89	CWC22	Ssm	3	37	8.1%	cbioportal
119	NPAP1	Ssm	3	37	8.1%	cbioportal
100	HLA-G	Ssm	3	37	8.1%	cbioportal
125	PPIAL4G	Ssm	3	37	8.1%	cbioportal
91	DPP6	Ssm	3	37	8.1%	cbioportal
12	FAT1	Ssm	7	90	7.8%	cbioportal
16	TSC2	Ssm	7	90	7.8%	cbioportal
14	PIK3C2G	Ssm	7	90	7.8%	cbioportal
15	PTPRD	Ssm	7	90	7.8%	cbioportal
8	ARID1A	Ssm	7	90	7.8%	cbioportal
9	ATM	Ssm	7	90	7.8%	cbioportal
10	BRCA1	Ssm	7	90	7.8%	cbioportal
11	ERBB2	Ssm	7	90	7.8%	cbioportal
21	SOS1	Ssm	6	80	7.5%	cbioportal
17	EP300	Ssm	6	90	6.7%	cbioportal
20	POLE	Ssm	6	90	6.7%	cbioportal

Data updated 22 days agoSource updated 2026-06-23

Non-Small Cell Lung Cancer (MSK, Cancer Cell 2018) nsclc_mskcc_2018MSK

75 cases with simple somatic mutation data · 75 cases total · 2026-01-12 · mapped to Lung Non-Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	42	75	56%	cbioportal
2	TTN	Ssm	36	75	48%	cbioportal
3	RYR2	Ssm	30	75	40%	cbioportal
4	MUC16	Ssm	25	75	33.3%	cbioportal
5	KRAS	Ssm	23	75	30.7%	cbioportal
6	USH2A	Ssm	22	75	29.3%	cbioportal
7	CSMD3	Ssm	20	75	26.7%	cbioportal
9	OBSCN	Ssm	19	75	25.3%	cbioportal
8	LRP1B	Ssm	19	75	25.3%	cbioportal
10	XIRP2	Ssm	18	75	24%	cbioportal
11	ZFHX4	Ssm	18	75	24%	cbioportal
12	FAT3	Ssm	16	75	21.3%	cbioportal
13	FLG	Ssm	16	75	21.3%	cbioportal
15	CTNND2	Ssm	15	75	20%	cbioportal
14	COL22A1	Ssm	15	75	20%	cbioportal
16	MUC17	Ssm	15	75	20%	cbioportal
22	FLNC	Ssm	14	75	18.7%	cbioportal
17	ANK2	Ssm	14	75	18.7%	cbioportal
18	CACNA1E	Ssm	14	75	18.7%	cbioportal
19	DNAH11	Ssm	14	75	18.7%	cbioportal
20	DNAH5	Ssm	14	75	18.7%	cbioportal
21	DYNC2H1	Ssm	14	75	18.7%	cbioportal
23	RELN	Ssm	14	75	18.7%	cbioportal
24	COL11A1	Ssm	13	75	17.3%	cbioportal
27	SPTA1	Ssm	13	75	17.3%	cbioportal
25	CSMD1	Ssm	13	75	17.3%	cbioportal
28	SYNE1	Ssm	13	75	17.3%	cbioportal
26	PCDH15	Ssm	13	75	17.3%	cbioportal
29	ANKRD30B	Ssm	12	75	16%	cbioportal
30	APOB	Ssm	12	75	16%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Non-Small Cell Lung Cancer (MSK, J Clin Oncol 2018) nsclc_pd1_msk_2018MSK

240 cases with simple somatic mutation data · 240 cases total · 2026-01-12 · mapped to Lung Non-Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	141	240	58.8%	cbioportal
2	KRAS	Ssm	86	240	35.8%	cbioportal
4	STK11	Ssm	53	240	22.1%	cbioportal
3	KEAP1	Ssm	53	240	22.1%	cbioportal
5	PTPRD	Ssm	30	240	12.5%	cbioportal
6	SMARCA4	Ssm	27	240	11.3%	cbioportal
7	EGFR	Ssm	26	240	10.8%	cbioportal
8	RBM10	Ssm	26	240	10.8%	cbioportal
11	NF1	Ssm	25	240	10.4%	cbioportal
10	KMT2C	Ssm	25	240	10.4%	cbioportal
9	EPHA5	Ssm	25	240	10.4%	cbioportal
12	PTPRT	Ssm	25	240	10.4%	cbioportal
14	FAT1	Ssm	24	240	10%	cbioportal
13	EPHA3	Ssm	24	240	10%	cbioportal
15	ARID1A	Ssm	23	240	9.6%	cbioportal
16	KMT2D	Ssm	23	240	9.6%	cbioportal
21	MGA	Ssm	17	184	9.2%	cbioportal
27	EPHA7	Ssm	15	184	8.2%	cbioportal
18	PIK3CG	Ssm	19	240	7.9%	cbioportal
17	ATM	Ssm	19	240	7.9%	cbioportal
19	CDKN2A	Ssm	18	240	7.5%	cbioportal
23	TERT	Ssm	17	240	7.1%	cbioportal
20	HGF	Ssm	17	240	7.1%	cbioportal
22	NOTCH4	Ssm	17	240	7.1%	cbioportal
26	SETD2	Ssm	16	240	6.7%	cbioportal
25	RB1	Ssm	16	240	6.7%	cbioportal
24	ERBB4	Ssm	16	240	6.7%	cbioportal
45	ZFHX3	Ssm	12	184	6.5%	cbioportal
42	PGR	Ssm	12	184	6.5%	cbioportal
30	ATRX	Ssm	14	240	5.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Non-Small Cell Lung Cancer (MSK, Science 2015) nsclc_mskcc_2015MSK

16 cases with simple somatic mutation data · 16 cases total · 2026-01-08 · mapped to Lung Non-Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	8	16	50%	cbioportal
2	MUC16	Ssm	7	16	43.8%	cbioportal
3	MUC4	Ssm	7	16	43.8%	cbioportal
4	TTN	Ssm	7	16	43.8%	cbioportal
6	RYR2	Ssm	6	16	37.5%	cbioportal
5	CSMD3	Ssm	6	16	37.5%	cbioportal
8	FLG	Ssm	5	16	31.3%	cbioportal
13	PKD1	Ssm	5	16	31.3%	cbioportal
12	PAPPA2	Ssm	5	16	31.3%	cbioportal
11	MUC5B	Ssm	5	16	31.3%	cbioportal
10	LRP1B	Ssm	5	16	31.3%	cbioportal
9	KRAS	Ssm	5	16	31.3%	cbioportal
7	DCHS2	Ssm	5	16	31.3%	cbioportal
21	DCAF12L1	Ssm	4	16	25%	cbioportal
36	TNXB	Ssm	4	16	25%	cbioportal
35	SLIT3	Ssm	4	16	25%	cbioportal
34	SCN10A	Ssm	4	16	25%	cbioportal
20	CSMD2	Ssm	4	16	25%	cbioportal
33	PLXNA1	Ssm	4	16	25%	cbioportal
32	PCDH15	Ssm	4	16	25%	cbioportal
31	OBSCN	Ssm	4	16	25%	cbioportal
30	NALCN	Ssm	4	16	25%	cbioportal
29	MYO9B	Ssm	4	16	25%	cbioportal
28	MUC17	Ssm	4	16	25%	cbioportal
27	MROH2B	Ssm	4	16	25%	cbioportal
26	MAGEC1	Ssm	4	16	25%	cbioportal
25	HRNR	Ssm	4	16	25%	cbioportal
24	HMCN1	Ssm	4	16	25%	cbioportal
23	FLNC	Ssm	4	16	25%	cbioportal
22	DLGAP3	Ssm	4	16	25%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Non-Small Cell Lung Cancer (TRACERx, NEJM & Nature 2017) nsclc_tracerx_2017TRACERx

447 cases with simple somatic mutation data · 447 cases total · 2026-01-12 · mapped to Lung Non-Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	257	447	57.5%	cbioportal
2	TTN	Ssm	209	447	46.8%	cbioportal
3	CSMD3	Ssm	155	447	34.7%	cbioportal
4	RYR2	Ssm	154	447	34.5%	cbioportal
5	LRP1B	Ssm	130	447	29.1%	cbioportal
6	ZFHX4	Ssm	109	447	24.4%	cbioportal
7	KRAS	Ssm	103	447	23%	cbioportal
8	USH2A	Ssm	96	447	21.5%	cbioportal
9	MUC16	Ssm	91	447	20.4%	cbioportal
10	RYR3	Ssm	89	447	19.9%	cbioportal
11	UNC80	Ssm	88	447	19.7%	cbioportal
12	CSMD1	Ssm	85	447	19%	cbioportal
13	XIRP2	Ssm	81	447	18.1%	cbioportal
14	LRP2	Ssm	79	447	17.7%	cbioportal
15	SI	Ssm	78	447	17.4%	cbioportal
16	CACNA1E	Ssm	77	447	17.2%	cbioportal
17	OBSCN	Ssm	75	447	16.8%	cbioportal
18	COL22A1	Ssm	74	447	16.6%	cbioportal
20	SYNE1	Ssm	74	447	16.6%	cbioportal
19	SPTA1	Ssm	74	447	16.6%	cbioportal
21	CSMD2	Ssm	73	447	16.3%	cbioportal
22	EYS	Ssm	73	447	16.3%	cbioportal
23	RELN	Ssm	70	447	15.7%	cbioportal
24	CNTNAP5	Ssm	69	447	15.4%	cbioportal
25	CNTNAP2	Ssm	68	447	15.2%	cbioportal
26	NEB	Ssm	68	447	15.2%	cbioportal
27	DNAH9	Ssm	67	447	15%	cbioportal
28	FAM135B	Ssm	66	447	14.8%	cbioportal
29	PAPPA2	Ssm	65	447	14.5%	cbioportal
30	FSIP2	Ssm	64	447	14.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Non-Small Cell Lung Cancer (University of Turin, Lung Cancer 2017) nsclc_unito_2016University of Turin

41 cases with simple somatic mutation data · 41 cases total · 2026-01-12 · mapped to Lung Non-Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved29 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	22	41	53.7%	cbioportal
2	EGFR	Ssm	12	41	29.3%	cbioportal
3	KRAS	Ssm	10	41	24.4%	cbioportal
4	ATM	Ssm	6	41	14.6%	cbioportal
5	STK11	Ssm	5	41	12.2%	cbioportal
6	PIK3CA	Ssm	4	41	9.8%	cbioportal
12	SMAD4	Ssm	3	41	7.3%	cbioportal
7	BRAF	Ssm	3	41	7.3%	cbioportal
8	FGFR3	Ssm	3	41	7.3%	cbioportal
9	KDR	Ssm	3	41	7.3%	cbioportal
10	KIT	Ssm	3	41	7.3%	cbioportal
11	MET	Ssm	3	41	7.3%	cbioportal
13	APC	Ssm	2	41	4.9%	cbioportal
19	VHL	Ssm	2	41	4.9%	cbioportal
18	RET	Ssm	2	41	4.9%	cbioportal
14	CDH1	Ssm	2	41	4.9%	cbioportal
15	CDKN2A	Ssm	2	41	4.9%	cbioportal
16	PTPN11	Ssm	2	41	4.9%	cbioportal
17	RB1	Ssm	2	41	4.9%	cbioportal
27	IDH1	Ssm	1	41	2.4%	cbioportal
20	ABL1	Ssm	1	41	2.4%	cbioportal
26	HNF1A	Ssm	1	41	2.4%	cbioportal
25	FLT3	Ssm	1	41	2.4%	cbioportal
24	FGFR2	Ssm	1	41	2.4%	cbioportal
23	ERBB4	Ssm	1	41	2.4%	cbioportal
22	ERBB2	Ssm	1	41	2.4%	cbioportal
21	AKT1	Ssm	1	41	2.4%	cbioportal
29	SMO	Ssm	1	41	2.4%	cbioportal
28	NOTCH1	Ssm	1	41	2.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Oral Squamous Cell Carcinoma (MD Anderson, Cancer Discov 2013) hnsc_mdanderson_2013MD Anderson

40 cases with simple somatic mutation data · 40 cases total · 2026-01-07 · mapped to Head and Neck Squamous Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	19	40	47.5%	cbioportal
2	TTN	Ssm	5	40	12.5%	cbioportal
3	FAT1	Ssm	4	40	10%	cbioportal
4	OR2T35	Ssm	4	40	10%	cbioportal
8	RYR2	Ssm	3	40	7.5%	cbioportal
7	GPRIN2	Ssm	3	40	7.5%	cbioportal
6	EPHA7	Ssm	3	40	7.5%	cbioportal
5	ARHGAP29	Ssm	3	40	7.5%	cbioportal
25	EPG5	Ssm	2	40	5%	cbioportal
23	DSC1	Ssm	2	40	5%	cbioportal
30	HLA-B	Ssm	2	40	5%	cbioportal
22	DMKN	Ssm	2	40	5%	cbioportal
21	DCC	Ssm	2	40	5%	cbioportal
20	CSMD3	Ssm	2	40	5%	cbioportal
19	CRABP2	Ssm	2	40	5%	cbioportal
12	AHNAK2	Ssm	2	40	5%	cbioportal
14	ALPI	Ssm	2	40	5%	cbioportal
18	COL11A1	Ssm	2	40	5%	cbioportal
17	CASP8	Ssm	2	40	5%	cbioportal
16	CACNA1D	Ssm	2	40	5%	cbioportal
15	BBS9	Ssm	2	40	5%	cbioportal
11	ACSF3	Ssm	2	40	5%	cbioportal
10	ABR	Ssm	2	40	5%	cbioportal
9	ABCA6	Ssm	2	40	5%	cbioportal
13	AKAP12	Ssm	2	40	5%	cbioportal
29	HCRTR2	Ssm	2	40	5%	cbioportal
28	GDF2	Ssm	2	40	5%	cbioportal
27	GALNT14	Ssm	2	40	5%	cbioportal
26	ERICH3	Ssm	2	40	5%	cbioportal
24	EGFR	Ssm	2	40	5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Osteosarcoma TARGET-OSTARGET

145 cases with simple somatic mutation data · 383 cases total · Data Release 46.0 · mapped to Osteosarcoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	70	145	48.3%	gdc
2	TBC1D28	Ssm	68	145	46.9%	gdc
4	TRIM16L	Ssm	68	145	46.9%	gdc
3	FOXO3B	Ssm	68	145	46.9%	gdc
19	GRAP	Ssm	67	145	46.2%	gdc
20	SHMT1	Ssm	67	145	46.2%	gdc
21	FAM83G	Ssm	67	145	46.2%	gdc
8	TVP23B	Ssm	67	145	46.2%	gdc
7	CDRT4	Ssm	67	145	46.2%	gdc
6	FBXW10	Ssm	67	145	46.2%	gdc
5	EVPLL	Ssm	67	145	46.2%	gdc
14	MIEF2	Ssm	67	145	46.2%	gdc
13	AC005324.2	Ssm	67	145	46.2%	gdc
12	TVP23C	Ssm	67	145	46.2%	gdc
11	SLC5A10	Ssm	67	145	46.2%	gdc
10	FLII	Ssm	67	145	46.2%	gdc
15	TVP23C-CDRT4	Ssm	67	145	46.2%	gdc
9	PRPSAP2	Ssm	67	145	46.2%	gdc
16	TOP3A	Ssm	67	145	46.2%	gdc
17	SMCR8	Ssm	67	145	46.2%	gdc
18	LGALS9C	Ssm	67	145	46.2%	gdc
27	EPN2	Ssm	66	145	45.5%	gdc
30	MYO15A	Ssm	66	145	45.5%	gdc
29	TTC19	Ssm	66	145	45.5%	gdc
28	TBC1D26	Ssm	66	145	45.5%	gdc
26	RNF112	Ssm	66	145	45.5%	gdc
25	GID4	Ssm	66	145	45.5%	gdc
24	AC005324.3	Ssm	66	145	45.5%	gdc
23	SLC47A1	Ssm	66	145	45.5%	gdc
22	ZNF286A	Ssm	66	145	45.5%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Osteosarcoma (TARGET GDC, 2025) os_target_gdcTARGET GDC

143 cases with simple somatic mutation data · 159 cases total · 2026-01-14 · mapped to Osteosarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	32	143	22.4%	cbioportal
3	TTN	Ssm	16	143	11.2%	cbioportal
2	MUC16	Ssm	16	143	11.2%	cbioportal
4	ATRX	Ssm	11	143	7.7%	cbioportal
5	DNAH9	Ssm	10	143	7%	cbioportal
6	RB1	Ssm	8	143	5.6%	cbioportal
9	MUC4	Ssm	7	143	4.9%	cbioportal
8	DMD	Ssm	7	143	4.9%	cbioportal
7	CNTNAP5	Ssm	7	143	4.9%	cbioportal
10	PCLO	Ssm	7	143	4.9%	cbioportal
11	CSMD3	Ssm	6	143	4.2%	cbioportal
14	RYR2	Ssm	5	143	3.5%	cbioportal
12	ADGRV1	Ssm	5	143	3.5%	cbioportal
13	DNAH3	Ssm	5	143	3.5%	cbioportal
15	ALMS1	Ssm	4	143	2.8%	cbioportal
19	DNAI4	Ssm	4	143	2.8%	cbioportal
26	ZFHX3	Ssm	4	143	2.8%	cbioportal
23	LAMA2	Ssm	4	143	2.8%	cbioportal
22	LAMA1	Ssm	4	143	2.8%	cbioportal
21	HECTD4	Ssm	4	143	2.8%	cbioportal
20	GRM5	Ssm	4	143	2.8%	cbioportal
24	PKHD1L1	Ssm	4	143	2.8%	cbioportal
18	CSMD2	Ssm	4	143	2.8%	cbioportal
25	RYR1	Ssm	4	143	2.8%	cbioportal
16	CMYA5	Ssm	4	143	2.8%	cbioportal
17	CSMD1	Ssm	4	143	2.8%	cbioportal
50	PTPRH	Ssm	3	143	2.1%	cbioportal
52	SETD2	Ssm	3	143	2.1%	cbioportal
51	PXDN	Ssm	3	143	2.1%	cbioportal
49	PTEN	Ssm	3	143	2.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Ovarian Serous Cystadenocarcinoma TCGA-OVTCGA

603 cases with simple somatic mutation data · 608 cases total · Data Release 46.0 · mapped to Ovarian Serous Cystadenocarcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	483	603	80.1%	gdc
2	MYC	Ssm	455	603	75.5%	gdc
4	FAM135B	Ssm	449	603	74.5%	gdc
3	POU5F1B	Ssm	449	603	74.5%	gdc
5	ACTRT3	Ssm	447	603	74.1%	gdc
8	MYNN	Ssm	446	603	74%	gdc
6	AGO2	Ssm	446	603	74%	gdc
7	ADCY8	Ssm	446	603	74%	gdc
9	PTK2	Ssm	446	603	74%	gdc
10	LRRC34	Ssm	446	603	74%	gdc
15	LRRIQ4	Ssm	445	603	73.8%	gdc
16	LRATD2	Ssm	445	603	73.8%	gdc
12	PTP4A3	Ssm	445	603	73.8%	gdc
11	GSDMC	Ssm	445	603	73.8%	gdc
13	LRRC31	Ssm	445	603	73.8%	gdc
14	GPR20	Ssm	445	603	73.8%	gdc
23	CHRAC1	Ssm	444	603	73.6%	gdc
21	ASAP1	Ssm	444	603	73.6%	gdc
20	TRIB1	Ssm	444	603	73.6%	gdc
19	AC138647.1	Ssm	444	603	73.6%	gdc
18	SLC45A4	Ssm	444	603	73.6%	gdc
17	SAMD7	Ssm	444	603	73.6%	gdc
24	TG	Ssm	444	603	73.6%	gdc
22	SEC62	Ssm	444	603	73.6%	gdc
26	COL22A1	Ssm	443	603	73.5%	gdc
27	KHDRBS3	Ssm	443	603	73.5%	gdc
30	SCRIB	Ssm	443	603	73.5%	gdc
29	MECOM	Ssm	443	603	73.5%	gdc
25	GPR160	Ssm	443	603	73.5%	gdc
28	KCNK9	Ssm	443	603	73.5%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Ovarian Serous Cystadenocarcinoma (TCGA, Firehose Legacy) ov_tcgaTCGA

316 cases with simple somatic mutation data · 617 cases total · 2026-01-12 · mapped to High-Grade Serous Ovarian Cancer EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	277	316	87.7%	cbioportal
2	TTN	Ssm	56	316	17.7%	cbioportal
3	USH2A	Ssm	20	316	6.3%	cbioportal
4	FAT3	Ssm	19	316	6%	cbioportal
6	MUC16	Ssm	18	316	5.7%	cbioportal
5	CSMD3	Ssm	18	316	5.7%	cbioportal
7	HMCN1	Ssm	15	316	4.7%	cbioportal
8	LRP2	Ssm	15	316	4.7%	cbioportal
9	NF1	Ssm	14	316	4.4%	cbioportal
10	RYR2	Ssm	14	316	4.4%	cbioportal
12	LRP1B	Ssm	13	316	4.1%	cbioportal
11	DNAH5	Ssm	13	316	4.1%	cbioportal
16	COL6A3	Ssm	12	316	3.8%	cbioportal
14	AHNAK2	Ssm	12	316	3.8%	cbioportal
13	AHNAK	Ssm	12	316	3.8%	cbioportal
15	BRCA1	Ssm	12	316	3.8%	cbioportal
17	APOB	Ssm	11	316	3.5%	cbioportal
24	RYR1	Ssm	11	316	3.5%	cbioportal
23	MUC17	Ssm	11	316	3.5%	cbioportal
22	HYDIN	Ssm	11	316	3.5%	cbioportal
21	HUWE1	Ssm	11	316	3.5%	cbioportal
20	FAT1	Ssm	11	316	3.5%	cbioportal
19	DNAH3	Ssm	11	316	3.5%	cbioportal
18	BRCA2	Ssm	11	316	3.5%	cbioportal
28	TENM1	Ssm	10	316	3.2%	cbioportal
27	SI	Ssm	10	316	3.2%	cbioportal
26	PKHD1	Ssm	10	316	3.2%	cbioportal
25	LRRK2	Ssm	10	316	3.2%	cbioportal
29	CDK12	Ssm	9	316	2.8%	cbioportal
30	COL22A1	Ssm	9	316	2.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Ovarian Serous Cystadenocarcinoma (TCGA, Nature 2011) ov_tcga_pubTCGA

316 cases with simple somatic mutation data · 489 cases total · 2026-01-21 · mapped to High-Grade Serous Ovarian Cancer EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	303	316	95.9%	cbioportal
2	TTN	Ssm	55	316	17.4%	cbioportal
3	BRCA1	Ssm	37	316	11.7%	cbioportal
4	BRCA2	Ssm	34	316	10.8%	cbioportal
5	USH2A	Ssm	20	316	6.3%	cbioportal
6	CSMD3	Ssm	19	316	6%	cbioportal
8	MUC16	Ssm	18	316	5.7%	cbioportal
7	FAT3	Ssm	18	316	5.7%	cbioportal
9	LRP2	Ssm	15	316	4.7%	cbioportal
11	RYR2	Ssm	14	316	4.4%	cbioportal
10	HMCN1	Ssm	14	316	4.4%	cbioportal
12	LRP1B	Ssm	13	316	4.1%	cbioportal
15	DNAH5	Ssm	12	316	3.8%	cbioportal
14	DNAH3	Ssm	12	316	3.8%	cbioportal
13	AHNAK	Ssm	12	316	3.8%	cbioportal
16	NF1	Ssm	12	316	3.8%	cbioportal
19	FAT1	Ssm	11	316	3.5%	cbioportal
17	AHNAK2	Ssm	11	316	3.5%	cbioportal
18	APOB	Ssm	11	316	3.5%	cbioportal
20	HYDIN	Ssm	11	316	3.5%	cbioportal
21	MUC17	Ssm	11	316	3.5%	cbioportal
22	TENM1	Ssm	11	316	3.5%	cbioportal
26	RYR1	Ssm	10	316	3.2%	cbioportal
23	COL6A3	Ssm	10	316	3.2%	cbioportal
24	HUWE1	Ssm	10	316	3.2%	cbioportal
25	LRRK2	Ssm	10	316	3.2%	cbioportal
29	COL22A1	Ssm	9	316	2.8%	cbioportal
27	ADGRB3	Ssm	9	316	2.8%	cbioportal
30	DST	Ssm	9	316	2.8%	cbioportal
28	CDK12	Ssm	9	316	2.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-21

Ovarian Serous Cystadenocarcinoma (TCGA, PanCancer Atlas) ov_tcga_pan_can_atlas_2018TCGA

523 cases with simple somatic mutation data · 585 cases total · 2026-06-04 · mapped to High-Grade Serous Ovarian Cancer EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	373	523	71.3%	cbioportal
2	TTN	Ssm	110	523	21%	cbioportal
3	FLG2	Ssm	41	523	7.8%	cbioportal
4	MUC16	Ssm	41	523	7.8%	cbioportal
5	CSMD3	Ssm	38	523	7.3%	cbioportal
6	HMCN1	Ssm	34	523	6.5%	cbioportal
7	USH2A	Ssm	32	523	6.1%	cbioportal
9	FLG	Ssm	30	523	5.7%	cbioportal
8	AHNAK2	Ssm	30	523	5.7%	cbioportal
10	NF1	Ssm	30	523	5.7%	cbioportal
11	MACF1	Ssm	29	523	5.5%	cbioportal
12	RYR2	Ssm	28	523	5.4%	cbioportal
13	AHNAK	Ssm	26	523	5%	cbioportal
14	SYNE1	Ssm	26	523	5%	cbioportal
20	MUC17	Ssm	24	523	4.6%	cbioportal
15	APOB	Ssm	24	523	4.6%	cbioportal
16	DNAH3	Ssm	24	523	4.6%	cbioportal
17	FAT3	Ssm	24	523	4.6%	cbioportal
18	KMT2C	Ssm	24	523	4.6%	cbioportal
19	LRP2	Ssm	24	523	4.6%	cbioportal
21	RYR1	Ssm	23	523	4.4%	cbioportal
22	COL6A3	Ssm	22	523	4.2%	cbioportal
25	SI	Ssm	22	523	4.2%	cbioportal
24	MDN1	Ssm	22	523	4.2%	cbioportal
23	DST	Ssm	22	523	4.2%	cbioportal
26	DNAH5	Ssm	21	523	4%	cbioportal
29	MYH1	Ssm	21	523	4%	cbioportal
28	LRP1B	Ssm	21	523	4%	cbioportal
27	FCGBP	Ssm	21	523	4%	cbioportal
30	FAT4	Ssm	20	523	3.8%	cbioportal

Data updated 22 days agoSource updated 2026-06-04

Pancreatic Acinar Cell Carcinoma (MSK, JCO 2023) paac_msk_jco_2023MSK

47 cases with simple somatic mutation data · 47 cases total · 2026-01-12 · mapped to Pancreatic Acinar Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SMAD4	Ssm	8	47	17%	cbioportal
2	AXIN1	Ssm	6	47	12.8%	cbioportal
3	CTNNB1	Ssm	6	47	12.8%	cbioportal
4	NF1	Ssm	5	47	10.6%	cbioportal
5	PRKAR1A	Ssm	5	47	10.6%	cbioportal
6	RB1	Ssm	5	47	10.6%	cbioportal
7	CREBBP	Ssm	4	47	8.5%	cbioportal
8	PBRM1	Ssm	4	47	8.5%	cbioportal
9	PTEN	Ssm	4	47	8.5%	cbioportal
172	ZNRF3	Ssm	1	13	7.7%	cbioportal
93	GNB1	Ssm	1	13	7.7%	cbioportal
154	SETDB1	Ssm	1	13	7.7%	cbioportal
155	SLFN11	Ssm	1	13	7.7%	cbioportal
19	MGA	Ssm	3	46	6.5%	cbioportal
15	CDKN2A	Ssm	3	47	6.4%	cbioportal
25	TP53	Ssm	3	47	6.4%	cbioportal
10	ARID1A	Ssm	3	47	6.4%	cbioportal
11	ASXL1	Ssm	3	47	6.4%	cbioportal
12	ATM	Ssm	3	47	6.4%	cbioportal
13	BRAF	Ssm	3	47	6.4%	cbioportal
14	BRCA2	Ssm	3	47	6.4%	cbioportal
23	RARA	Ssm	3	47	6.4%	cbioportal
22	POLE	Ssm	3	47	6.4%	cbioportal
21	PIK3CG	Ssm	3	47	6.4%	cbioportal
20	NRAS	Ssm	3	47	6.4%	cbioportal
26	TSC2	Ssm	3	47	6.4%	cbioportal
24	SETD2	Ssm	3	47	6.4%	cbioportal
18	MEN1	Ssm	3	47	6.4%	cbioportal
17	KMT2D	Ssm	3	47	6.4%	cbioportal
16	IKBKE	Ssm	3	47	6.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Pancreatic Adenocarcinoma TCGA-PAADTCGA

185 cases with simple somatic mutation data · 185 cases total · Data Release 46.0 · mapped to Pancreatic Adenocarcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	124	185	67%	gdc
2	KRAS	Ssm	123	185	66.5%	gdc
3	SMAD4	Ssm	119	185	64.3%	gdc
4	CDKN2A	Ssm	117	185	63.2%	gdc
8	MAPK4	Ssm	114	185	61.6%	gdc
7	CXXC1	Ssm	114	185	61.6%	gdc
10	MBD1	Ssm	114	185	61.6%	gdc
5	ME2	Ssm	114	185	61.6%	gdc
6	SKA1	Ssm	114	185	61.6%	gdc
9	CFAP53	Ssm	114	185	61.6%	gdc
13	TCF4	Ssm	113	185	61.1%	gdc
11	C18orf54	Ssm	113	185	61.1%	gdc
12	MRO	Ssm	113	185	61.1%	gdc
14	DCC	Ssm	113	185	61.1%	gdc
15	MEX3C	Ssm	113	185	61.1%	gdc
16	MYO5B	Ssm	113	185	61.1%	gdc
17	STARD6	Ssm	113	185	61.1%	gdc
18	MBD2	Ssm	113	185	61.1%	gdc
19	POLI	Ssm	113	185	61.1%	gdc
24	DYNAP	Ssm	112	185	60.5%	gdc
27	SERPINB10	Ssm	112	185	60.5%	gdc
26	AC091551.1	Ssm	112	185	60.5%	gdc
25	SERPINB7	Ssm	112	185	60.5%	gdc
23	ALPK2	Ssm	112	185	60.5%	gdc
22	SMAD7	Ssm	112	185	60.5%	gdc
21	RAB27B	Ssm	112	185	60.5%	gdc
20	DYM	Ssm	112	185	60.5%	gdc
30	LIPG	Ssm	112	185	60.5%	gdc
29	CCDC68	Ssm	112	185	60.5%	gdc
28	ELAC1	Ssm	112	185	60.5%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Pancreatic Adenocarcinoma (ICGC, Nature 2012) paad_icgcICGC

99 cases with simple somatic mutation data · 99 cases total · 2026-01-12 · mapped to Pancreatic Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	94	99	94.9%	cbioportal
2	TP53	Ssm	33	99	33.3%	cbioportal
3	SMAD4	Ssm	16	99	16.2%	cbioportal
4	TTN	Ssm	12	99	12.1%	cbioportal
6	MUC16	Ssm	5	99	5.1%	cbioportal
5	CSMD1	Ssm	5	99	5.1%	cbioportal
13	SF3B1	Ssm	4	99	4%	cbioportal
14	TGFBR2	Ssm	4	99	4%	cbioportal
12	RYR3	Ssm	4	99	4%	cbioportal
7	ARID1A	Ssm	4	99	4%	cbioportal
8	DNAH5	Ssm	4	99	4%	cbioportal
11	PCDH15	Ssm	4	99	4%	cbioportal
10	NALCN	Ssm	4	99	4%	cbioportal
9	HMCN1	Ssm	4	99	4%	cbioportal
23	MAP2K4	Ssm	3	99	3%	cbioportal
15	ABCA12	Ssm	3	99	3%	cbioportal
17	ARID2	Ssm	3	99	3%	cbioportal
16	AFF2	Ssm	3	99	3%	cbioportal
18	COL6A5	Ssm	3	99	3%	cbioportal
19	DMD	Ssm	3	99	3%	cbioportal
20	EPC1	Ssm	3	99	3%	cbioportal
21	FLG	Ssm	3	99	3%	cbioportal
22	LRP1B	Ssm	3	99	3%	cbioportal
24	NBAS	Ssm	3	99	3%	cbioportal
25	OR2M5	Ssm	3	99	3%	cbioportal
26	PCDHB6	Ssm	3	99	3%	cbioportal
27	SLIT2	Ssm	3	99	3%	cbioportal
28	SYNE1	Ssm	3	99	3%	cbioportal
29	THSD7A	Ssm	3	99	3%	cbioportal
30	XIRP2	Ssm	3	99	3%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Pancreatic Adenocarcinoma (MSK, 2025) paad_msk_2025MSK

29 cases with simple somatic mutation data · 29 cases total · 2026-02-10 · mapped to Pancreatic Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	18	29	62.1%	cbioportal
2	TP53	Ssm	14	29	48.3%	cbioportal
8	ZNF676	Ssm	3	16	18.8%	cbioportal
53	SMOC1	Ssm	2	16	12.5%	cbioportal
32	HLA-G	Ssm	2	16	12.5%	cbioportal
33	KIF2B	Ssm	2	16	12.5%	cbioportal
35	MARCHF7	Ssm	2	16	12.5%	cbioportal
38	NBPF12	Ssm	2	16	12.5%	cbioportal
24	FAM86C1P	Ssm	2	16	12.5%	cbioportal
40	NOTCH2NLA	Ssm	2	16	12.5%	cbioportal
43	OR4C46	Ssm	2	16	12.5%	cbioportal
48	PRDM5	Ssm	2	16	12.5%	cbioportal
52	SDHAP1	Ssm	2	16	12.5%	cbioportal
20	DAB2	Ssm	2	16	12.5%	cbioportal
5	CDKN2A	Ssm	3	29	10.3%	cbioportal
3	APC	Ssm	3	29	10.3%	cbioportal
6	KMT2C	Ssm	3	29	10.3%	cbioportal
7	RNF43	Ssm	3	29	10.3%	cbioportal
4	CDK8	Ssm	3	29	10.3%	cbioportal
55	USP8	Ssm	2	28	7.1%	cbioportal
9	ALB	Ssm	2	28	7.1%	cbioportal
23	ETAA1	Ssm	2	28	7.1%	cbioportal
31	HLA-C	Ssm	2	28	7.1%	cbioportal
47	PRDM14	Ssm	2	28	7.1%	cbioportal
51	RTEL1	Ssm	2	28	7.1%	cbioportal
29	H3-3A	Ssm	2	29	6.9%	cbioportal
28	GNAS	Ssm	2	29	6.9%	cbioportal
27	GLI1	Ssm	2	29	6.9%	cbioportal
25	FAT1	Ssm	2	29	6.9%	cbioportal
30	HLA-A	Ssm	2	29	6.9%	cbioportal

Data updated 22 days agoSource updated 2026-02-10

Pancreatic Adenocarcinoma (QCMG, Nature 2016) paad_qcmg_uq_2016QCMG

383 cases with simple somatic mutation data · 456 cases total · 2026-01-12 · mapped to Pancreatic Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	344	383	89.8%	cbioportal
2	TP53	Ssm	253	383	66.1%	cbioportal
3	SMAD4	Ssm	86	383	22.5%	cbioportal
4	CDKN2A	Ssm	71	383	18.5%	cbioportal
5	TTN	Ssm	56	383	14.6%	cbioportal
6	ARID1A	Ssm	29	383	7.6%	cbioportal
7	SYNE1	Ssm	27	383	7%	cbioportal
8	LRP1B	Ssm	22	383	5.7%	cbioportal
9	KMT2C	Ssm	21	383	5.5%	cbioportal
11	RYR1	Ssm	21	383	5.5%	cbioportal
10	RNF43	Ssm	21	383	5.5%	cbioportal
12	MUC16	Ssm	20	383	5.2%	cbioportal
15	KMT2D	Ssm	19	383	5%	cbioportal
13	FLG	Ssm	19	383	5%	cbioportal
14	HMCN1	Ssm	19	383	5%	cbioportal
17	GLI3	Ssm	18	383	4.7%	cbioportal
16	FAT3	Ssm	18	383	4.7%	cbioportal
19	TGFBR2	Ssm	18	383	4.7%	cbioportal
18	OBSCN	Ssm	18	383	4.7%	cbioportal
21	MUC4	Ssm	16	383	4.2%	cbioportal
20	DNAH11	Ssm	16	383	4.2%	cbioportal
22	RYR3	Ssm	16	383	4.2%	cbioportal
23	RYR2	Ssm	15	383	3.9%	cbioportal
24	ATM	Ssm	14	383	3.7%	cbioportal
25	CSMD1	Ssm	14	383	3.7%	cbioportal
26	WDFY4	Ssm	14	383	3.7%	cbioportal
28	CSMD3	Ssm	13	383	3.4%	cbioportal
27	ADGRV1	Ssm	13	383	3.4%	cbioportal
29	DNAH5	Ssm	13	383	3.4%	cbioportal
30	TENM3	Ssm	13	383	3.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Pancreatic Adenocarcinoma (TCGA, Firehose Legacy) paad_tcgaTCGA

150 cases with simple somatic mutation data · 186 cases total · 2026-01-12 · mapped to Pancreatic Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	136	150	90.7%	cbioportal
2	TP53	Ssm	104	150	69.3%	cbioportal
3	SMAD4	Ssm	37	150	24.7%	cbioportal
4	TTN	Ssm	35	150	23.3%	cbioportal
5	CDKN2A	Ssm	22	150	14.7%	cbioportal
6	MUC16	Ssm	11	150	7.3%	cbioportal
7	OBSCN	Ssm	11	150	7.3%	cbioportal
8	RYR1	Ssm	11	150	7.3%	cbioportal
9	FAT2	Ssm	10	150	6.7%	cbioportal
10	FLG	Ssm	10	150	6.7%	cbioportal
11	GNAS	Ssm	10	150	6.7%	cbioportal
12	ADAMTS16	Ssm	9	150	6%	cbioportal
13	CSMD2	Ssm	9	150	6%	cbioportal
14	FAT3	Ssm	9	150	6%	cbioportal
15	FAT4	Ssm	9	150	6%	cbioportal
16	HMCN1	Ssm	9	150	6%	cbioportal
17	LRP1B	Ssm	9	150	6%	cbioportal
18	MYO18B	Ssm	9	150	6%	cbioportal
19	RNF43	Ssm	9	150	6%	cbioportal
20	USH2A	Ssm	9	150	6%	cbioportal
21	ADAMTS12	Ssm	8	150	5.3%	cbioportal
22	ARID1A	Ssm	8	150	5.3%	cbioportal
23	CACNA1B	Ssm	8	150	5.3%	cbioportal
24	GLI3	Ssm	8	150	5.3%	cbioportal
25	HECW2	Ssm	8	150	5.3%	cbioportal
26	PLEC	Ssm	8	150	5.3%	cbioportal
27	RREB1	Ssm	8	150	5.3%	cbioportal
28	RYR3	Ssm	8	150	5.3%	cbioportal
29	SCN5A	Ssm	8	150	5.3%	cbioportal
30	TGFBR2	Ssm	8	150	5.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Pancreatic Adenocarcinoma (TCGA GDC, 2025) paad_tcga_gdcTCGA GDC

173 cases with simple somatic mutation data · 186 cases total · 2026-01-13 · mapped to Pancreatic Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	107	173	61.8%	cbioportal
2	TP53	Ssm	100	173	57.8%	cbioportal
3	SMAD4	Ssm	36	173	20.8%	cbioportal
4	CDKN2A	Ssm	30	173	17.3%	cbioportal
5	TTN	Ssm	25	173	14.5%	cbioportal
6	MUC16	Ssm	12	173	6.9%	cbioportal
7	RNF43	Ssm	11	173	6.4%	cbioportal
8	ARID1A	Ssm	8	173	4.6%	cbioportal
9	HECW2	Ssm	8	173	4.6%	cbioportal
10	RYR1	Ssm	8	173	4.6%	cbioportal
11	TGFBR2	Ssm	8	173	4.6%	cbioportal
20	RNF213	Ssm	7	173	4%	cbioportal
19	PCDH15	Ssm	7	173	4%	cbioportal
13	CACNA1B	Ssm	7	173	4%	cbioportal
12	ATM	Ssm	7	173	4%	cbioportal
14	FAT2	Ssm	7	173	4%	cbioportal
15	GLI3	Ssm	7	173	4%	cbioportal
16	GNAS	Ssm	7	173	4%	cbioportal
17	KDM6A	Ssm	7	173	4%	cbioportal
18	LRP1B	Ssm	7	173	4%	cbioportal
21	TPO	Ssm	7	173	4%	cbioportal
28	FBN3	Ssm	6	173	3.5%	cbioportal
35	MUC17	Ssm	6	173	3.5%	cbioportal
34	KMT2D	Ssm	6	173	3.5%	cbioportal
33	KMT2C	Ssm	6	173	3.5%	cbioportal
32	KCNB2	Ssm	6	173	3.5%	cbioportal
31	KCNA6	Ssm	6	173	3.5%	cbioportal
30	FLNC	Ssm	6	173	3.5%	cbioportal
27	COL6A2	Ssm	6	173	3.5%	cbioportal
29	FLG	Ssm	6	173	3.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Pancreatic Adenocarcinoma (TCGA, PanCancer Atlas) paad_tcga_pan_can_atlas_2018TCGA

179 cases with simple somatic mutation data · 184 cases total · 2026-06-04 · mapped to Pancreatic Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	117	179	65.4%	cbioportal
2	TP53	Ssm	107	179	59.8%	cbioportal
3	SMAD4	Ssm	37	179	20.7%	cbioportal
4	CDKN2A	Ssm	35	179	19.6%	cbioportal
5	TTN	Ssm	29	179	16.2%	cbioportal
6	MUC16	Ssm	13	179	7.3%	cbioportal
7	RNF43	Ssm	11	179	6.1%	cbioportal
9	RYR1	Ssm	10	179	5.6%	cbioportal
8	CSMD2	Ssm	10	179	5.6%	cbioportal
11	PCDH15	Ssm	9	179	5%	cbioportal
10	ARID1A	Ssm	9	179	5%	cbioportal
17	OBSCN	Ssm	8	179	4.5%	cbioportal
18	RNF213	Ssm	8	179	4.5%	cbioportal
14	FLG	Ssm	8	179	4.5%	cbioportal
15	HECW2	Ssm	8	179	4.5%	cbioportal
16	MYO18B	Ssm	8	179	4.5%	cbioportal
13	CACNA1B	Ssm	8	179	4.5%	cbioportal
12	ATM	Ssm	8	179	4.5%	cbioportal
19	TGFBR2	Ssm	8	179	4.5%	cbioportal
22	COL6A2	Ssm	7	179	3.9%	cbioportal
20	ADAMTS12	Ssm	7	179	3.9%	cbioportal
21	APBA2	Ssm	7	179	3.9%	cbioportal
28	GLI3	Ssm	7	179	3.9%	cbioportal
27	FLNC	Ssm	7	179	3.9%	cbioportal
26	FAT3	Ssm	7	179	3.9%	cbioportal
25	FAT2	Ssm	7	179	3.9%	cbioportal
24	DSCAML1	Ssm	7	179	3.9%	cbioportal
23	DNAH11	Ssm	7	179	3.9%	cbioportal
30	KDM6A	Ssm	7	179	3.9%	cbioportal
29	GNAS	Ssm	7	179	3.9%	cbioportal

Data updated 22 days agoSource updated 2026-06-04

Pancreatic Cancer cfDNA (MSK, J Natl Cancer Inst 2025) pancreas_ctdna_msk_2025MSK

412 cases with simple somatic mutation data · 412 cases total · 2026-01-28 · mapped to Pancreatic Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	168	412	40.8%	cbioportal
2	TP53	Ssm	149	412	36.2%	cbioportal
3	CDKN2A	Ssm	37	412	9%	cbioportal
4	SMAD4	Ssm	34	412	8.3%	cbioportal
5	ARID1A	Ssm	24	412	5.8%	cbioportal
6	ATM	Ssm	23	412	5.6%	cbioportal
7	GNAS	Ssm	9	412	2.2%	cbioportal
9	SF3B1	Ssm	9	412	2.2%	cbioportal
8	KDM6A	Ssm	9	412	2.2%	cbioportal
10	SMARCA4	Ssm	8	412	1.9%	cbioportal
14	NTRK2	Ssm	7	412	1.7%	cbioportal
15	PTCH1	Ssm	7	412	1.7%	cbioportal
13	NF1	Ssm	7	412	1.7%	cbioportal
12	FOXO1	Ssm	7	412	1.7%	cbioportal
11	BRCA2	Ssm	7	412	1.7%	cbioportal
17	PTEN	Ssm	6	412	1.5%	cbioportal
16	APC	Ssm	6	412	1.5%	cbioportal
18	FBXW7	Ssm	5	412	1.2%	cbioportal
19	TSC2	Ssm	5	412	1.2%	cbioportal
26	U2AF1	Ssm	4	412	1%	cbioportal
20	CTNNB1	Ssm	4	412	1%	cbioportal
22	MSH6	Ssm	4	412	1%	cbioportal
25	TSC1	Ssm	4	412	1%	cbioportal
23	NTRK1	Ssm	4	412	1%	cbioportal
24	STK11	Ssm	4	412	1%	cbioportal
21	KEAP1	Ssm	4	412	1%	cbioportal
30	RB1	Ssm	3	412	0.7%	cbioportal
29	PIK3CA	Ssm	3	412	0.7%	cbioportal
28	FGFR2	Ssm	3	412	0.7%	cbioportal
31	ROS1	Ssm	3	412	0.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-28

Pancreatic Cancer (UTSW, Nat Commun 2015) paad_utsw_2015UTSW

109 cases with simple somatic mutation data · 109 cases total · 2026-01-12 · mapped to Pancreatic Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	100	109	91.7%	cbioportal
2	TP53	Ssm	55	109	50.5%	cbioportal
3	SMAD4	Ssm	21	109	19.3%	cbioportal
4	ZNF814	Ssm	20	109	18.3%	cbioportal
5	MUC16	Ssm	17	109	15.6%	cbioportal
6	TTN	Ssm	16	109	14.7%	cbioportal
7	MUC2	Ssm	12	109	11%	cbioportal
9	MIA2	Ssm	11	109	10.1%	cbioportal
8	FLG	Ssm	11	109	10.1%	cbioportal
10	MUC5B	Ssm	10	109	9.2%	cbioportal
11	OBSCN	Ssm	9	109	8.3%	cbioportal
16	NEBL	Ssm	8	109	7.3%	cbioportal
15	KRT4	Ssm	8	109	7.3%	cbioportal
18	PCMTD1	Ssm	8	109	7.3%	cbioportal
13	COL18A1	Ssm	8	109	7.3%	cbioportal
12	ATXN1	Ssm	8	109	7.3%	cbioportal
14	HERC2	Ssm	8	109	7.3%	cbioportal
17	NF1	Ssm	8	109	7.3%	cbioportal
30	NBPF9	Ssm	7	109	6.4%	cbioportal
19	AHNAK2	Ssm	7	109	6.4%	cbioportal
20	ARID1A	Ssm	7	109	6.4%	cbioportal
21	COL14A1	Ssm	7	109	6.4%	cbioportal
22	DGKB	Ssm	7	109	6.4%	cbioportal
23	FAT3	Ssm	7	109	6.4%	cbioportal
24	FOLH1	Ssm	7	109	6.4%	cbioportal
25	KMT2C	Ssm	7	109	6.4%	cbioportal
26	LILRB3	Ssm	7	109	6.4%	cbioportal
27	MAGEC1	Ssm	7	109	6.4%	cbioportal
28	MUC17	Ssm	7	109	6.4%	cbioportal
29	MUC4	Ssm	7	109	6.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Pancreatic Ductal Adenocarcinoma (CPTAC, Cell 2021) paad_cptac_2021CPTAC

140 cases with simple somatic mutation data · 140 cases total · 2026-01-12 · mapped to Pancreatic Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KRAS	Ssm	135	140	96.4%	cbioportal
2	TP53	Ssm	105	140	75%	cbioportal
3	CDKN2A	Ssm	29	140	20.7%	cbioportal
4	SMAD4	Ssm	24	140	17.1%	cbioportal
5	CTNNA2	Ssm	13	140	9.3%	cbioportal
6	MUC4	Ssm	13	140	9.3%	cbioportal
7	TTN	Ssm	12	140	8.6%	cbioportal
8	RYR2	Ssm	10	140	7.1%	cbioportal
9	RNF43	Ssm	9	140	6.4%	cbioportal
11	KMT2D	Ssm	8	140	5.7%	cbioportal
10	ARID1A	Ssm	8	140	5.7%	cbioportal
12	DNAH9	Ssm	7	140	5%	cbioportal
13	FMN2	Ssm	7	140	5%	cbioportal
15	MUC16	Ssm	7	140	5%	cbioportal
16	RBMXL3	Ssm	7	140	5%	cbioportal
17	SYNE1	Ssm	7	140	5%	cbioportal
14	GNAS	Ssm	7	140	5%	cbioportal
21	DOCK2	Ssm	6	140	4.3%	cbioportal
18	ANKRD30B	Ssm	6	140	4.3%	cbioportal
19	CDH10	Ssm	6	140	4.3%	cbioportal
20	CSMD1	Ssm	6	140	4.3%	cbioportal
22	GLI3	Ssm	6	140	4.3%	cbioportal
23	IRX2	Ssm	6	140	4.3%	cbioportal
24	KMT2C	Ssm	6	140	4.3%	cbioportal
25	LRP1B	Ssm	6	140	4.3%	cbioportal
26	PXDNL	Ssm	6	140	4.3%	cbioportal
27	RBM10	Ssm	6	140	4.3%	cbioportal
28	RYR3	Ssm	6	140	4.3%	cbioportal
29	TAF1L	Ssm	6	140	4.3%	cbioportal
30	ZFHX4	Ssm	6	140	4.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Pancreatic Neuroendocrine Tumors (Johns Hopkins University, Science 2011) panet_jhu_2011Johns Hopkins University

10 cases with simple somatic mutation data · 10 cases total · 2026-01-12 · mapped to Pancreatic Neuroendocrine Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MEN1	Ssm	5	10	50%	cbioportal
2	DAXX	Ssm	3	10	30%	cbioportal
4	TSC2	Ssm	2	10	20%	cbioportal
3	PTEN	Ssm	2	10	20%	cbioportal
29	CPNE8	Ssm	1	10	10%	cbioportal
115	SULT2A1	Ssm	1	10	10%	cbioportal
5	ABCA7	Ssm	1	10	10%	cbioportal
6	ABCB4	Ssm	1	10	10%	cbioportal
7	ADAMTS8	Ssm	1	10	10%	cbioportal
8	ADGRG4	Ssm	1	10	10%	cbioportal
9	AFMID	Ssm	1	10	10%	cbioportal
10	AHNAK	Ssm	1	10	10%	cbioportal
11	AKAP6	Ssm	1	10	10%	cbioportal
12	ALK	Ssm	1	10	10%	cbioportal
24	CD1C	Ssm	1	10	10%	cbioportal
26	CES1	Ssm	1	10	10%	cbioportal
27	CILP	Ssm	1	10	10%	cbioportal
28	COL1A1	Ssm	1	10	10%	cbioportal
19	C21ORF58	Ssm	1	10	10%	cbioportal
20	CABIN1	Ssm	1	10	10%	cbioportal
21	CAMSAP2	Ssm	1	10	10%	cbioportal
22	CCDC158	Ssm	1	10	10%	cbioportal
23	CD1A	Ssm	1	10	10%	cbioportal
25	CEP135	Ssm	1	10	10%	cbioportal
13	ANXA8L1	Ssm	1	10	10%	cbioportal
14	ARMC5	Ssm	1	10	10%	cbioportal
15	ATP6V0A1	Ssm	1	10	10%	cbioportal
16	ATRX	Ssm	1	10	10%	cbioportal
17	BCL9L	Ssm	1	10	10%	cbioportal
18	BRD1	Ssm	1	10	10%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Pancreatic Neuroendocrine Tumors (Multi-Institute, Nature 2017) panet_arcnet_2017Multi-Institute

98 cases with simple somatic mutation data · 98 cases total · 2026-01-12 · mapped to Pancreatic Neuroendocrine Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MEN1	Ssm	36	98	36.7%	cbioportal
2	DAXX	Ssm	22	98	22.4%	cbioportal
3	ATRX	Ssm	10	98	10.2%	cbioportal
4	PTEN	Ssm	7	98	7.1%	cbioportal
5	SETD2	Ssm	5	98	5.1%	cbioportal
6	TTN	Ssm	5	98	5.1%	cbioportal
9	FREM3	Ssm	4	98	4.1%	cbioportal
7	DNAH5	Ssm	4	98	4.1%	cbioportal
10	MUC16	Ssm	4	98	4.1%	cbioportal
8	DYNC1I1	Ssm	4	98	4.1%	cbioportal
12	ATM	Ssm	3	98	3.1%	cbioportal
33	TRIOBP	Ssm	3	98	3.1%	cbioportal
35	URB1	Ssm	3	98	3.1%	cbioportal
21	HSPG2	Ssm	3	98	3.1%	cbioportal
22	KMT2C	Ssm	3	98	3.1%	cbioportal
23	LRP2	Ssm	3	98	3.1%	cbioportal
36	VWA3A	Ssm	3	98	3.1%	cbioportal
37	ZSCAN1	Ssm	3	98	3.1%	cbioportal
11	A2M	Ssm	3	98	3.1%	cbioportal
32	TRDN	Ssm	3	98	3.1%	cbioportal
13	CEP290	Ssm	3	98	3.1%	cbioportal
34	UGGT1	Ssm	3	98	3.1%	cbioportal
14	DNAH17	Ssm	3	98	3.1%	cbioportal
15	DST	Ssm	3	98	3.1%	cbioportal
16	EFTUD2	Ssm	3	98	3.1%	cbioportal
17	FLG	Ssm	3	98	3.1%	cbioportal
18	FLNC	Ssm	3	98	3.1%	cbioportal
19	GBP2	Ssm	3	98	3.1%	cbioportal
20	HERC1	Ssm	3	98	3.1%	cbioportal
31	TP53	Ssm	3	98	3.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Pan-Lung Cancer (TCGA, Nat Genet 2016) nsclc_tcga_broad_2016TCGA

1,144 cases with simple somatic mutation data · 1,144 cases total · 2026-01-12 · mapped to Lung Non-Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	775	1,144	67.7%	cbioportal
2	TTN	Ssm	682	1,144	59.6%	cbioportal
3	CSMD3	Ssm	477	1,144	41.7%	cbioportal
4	MUC16	Ssm	463	1,144	40.5%	cbioportal
5	RYR2	Ssm	448	1,144	39.2%	cbioportal
6	LRP1B	Ssm	402	1,144	35.1%	cbioportal
7	USH2A	Ssm	390	1,144	34.1%	cbioportal
8	ZFHX4	Ssm	356	1,144	31.1%	cbioportal
9	SPTA1	Ssm	284	1,144	24.8%	cbioportal
10	XIRP2	Ssm	268	1,144	23.4%	cbioportal
11	FLG	Ssm	253	1,144	22.1%	cbioportal
12	SYNE1	Ssm	253	1,144	22.1%	cbioportal
13	NAV3	Ssm	234	1,144	20.5%	cbioportal
14	PCDH15	Ssm	230	1,144	20.1%	cbioportal
15	CSMD1	Ssm	225	1,144	19.7%	cbioportal
16	FAM135B	Ssm	223	1,144	19.5%	cbioportal
18	KRAS	Ssm	222	1,144	19.4%	cbioportal
17	FAT3	Ssm	222	1,144	19.4%	cbioportal
19	MUC17	Ssm	219	1,144	19.1%	cbioportal
20	PCLO	Ssm	219	1,144	19.1%	cbioportal
21	RYR3	Ssm	217	1,144	19%	cbioportal
22	COL11A1	Ssm	214	1,144	18.7%	cbioportal
23	PAPPA2	Ssm	212	1,144	18.5%	cbioportal
24	APOB	Ssm	210	1,144	18.4%	cbioportal
25	SI	Ssm	203	1,144	17.7%	cbioportal
26	CDH10	Ssm	202	1,144	17.7%	cbioportal
27	DNAH9	Ssm	197	1,144	17.2%	cbioportal
28	ADAMTS12	Ssm	196	1,144	17.1%	cbioportal
29	ZNF536	Ssm	195	1,144	17%	cbioportal
30	TNR	Ssm	192	1,144	16.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Papillary Renal Cell Carcinoma (TCGA GDC, 2025) prcc_tcga_gdcTCGA GDC

279 cases with simple somatic mutation data · 292 cases total · 2026-01-13 · mapped to Papillary Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	40	279	14.3%	cbioportal
2	MUC16	Ssm	22	279	7.9%	cbioportal
3	MET	Ssm	20	279	7.2%	cbioportal
4	KMT2C	Ssm	18	279	6.5%	cbioportal
7	SETD2	Ssm	15	279	5.4%	cbioportal
6	PKHD1	Ssm	15	279	5.4%	cbioportal
5	BLTP1	Ssm	15	279	5.4%	cbioportal
10	FAT1	Ssm	14	279	5%	cbioportal
8	BAP1	Ssm	14	279	5%	cbioportal
9	CUBN	Ssm	14	279	5%	cbioportal
11	KMT2D	Ssm	13	279	4.7%	cbioportal
13	USH2A	Ssm	13	279	4.7%	cbioportal
12	SYNE1	Ssm	13	279	4.7%	cbioportal
14	DNAH8	Ssm	12	279	4.3%	cbioportal
15	HERC2	Ssm	12	279	4.3%	cbioportal
17	WDFY3	Ssm	12	279	4.3%	cbioportal
16	SYNE2	Ssm	12	279	4.3%	cbioportal
22	PCF11	Ssm	11	279	3.9%	cbioportal
21	PBRM1	Ssm	11	279	3.9%	cbioportal
20	OBSCN	Ssm	11	279	3.9%	cbioportal
18	ARID1A	Ssm	11	279	3.9%	cbioportal
19	LRP2	Ssm	11	279	3.9%	cbioportal
25	MACF1	Ssm	10	279	3.6%	cbioportal
26	SRRM2	Ssm	10	279	3.6%	cbioportal
23	CUL3	Ssm	10	279	3.6%	cbioportal
24	KDM6A	Ssm	10	279	3.6%	cbioportal
32	PCLO	Ssm	9	279	3.2%	cbioportal
28	ANK3	Ssm	9	279	3.2%	cbioportal
27	ADGRV1	Ssm	9	279	3.2%	cbioportal
31	NF2	Ssm	9	279	3.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Papillary Thyroid Cancer (TCGA GDC, 2025) thpa_tcga_gdcTCGA GDC

496 cases with simple somatic mutation data · 515 cases total · 2026-01-14 · mapped to Thyroid Gland Papillary Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	293	496	59.1%	cbioportal
2	NRAS	Ssm	39	496	7.9%	cbioportal
3	TG	Ssm	19	496	3.8%	cbioportal
4	HRAS	Ssm	17	496	3.4%	cbioportal
5	TTN	Ssm	16	496	3.2%	cbioportal
7	KMT2A	Ssm	7	496	1.4%	cbioportal
8	MUC16	Ssm	7	496	1.4%	cbioportal
9	SPTA1	Ssm	7	496	1.4%	cbioportal
10	ZFHX3	Ssm	7	496	1.4%	cbioportal
6	EIF1AX	Ssm	7	496	1.4%	cbioportal
12	USP9X	Ssm	6	496	1.2%	cbioportal
11	BDP1	Ssm	6	496	1.2%	cbioportal
19	RYR1	Ssm	5	496	1%	cbioportal
13	AKT1	Ssm	5	496	1%	cbioportal
14	ATM	Ssm	5	496	1%	cbioportal
15	GBF1	Ssm	5	496	1%	cbioportal
16	PCDH11X	Ssm	5	496	1%	cbioportal
17	PDZD2	Ssm	5	496	1%	cbioportal
18	PTPRZ1	Ssm	5	496	1%	cbioportal
30	JMJD1C	Ssm	4	496	0.8%	cbioportal
27	GRIN2B	Ssm	4	496	0.8%	cbioportal
28	HMCN1	Ssm	4	496	0.8%	cbioportal
29	ITPR2	Ssm	4	496	0.8%	cbioportal
31	KDM2A	Ssm	4	496	0.8%	cbioportal
32	KMT2C	Ssm	4	496	0.8%	cbioportal
33	KRAS	Ssm	4	496	0.8%	cbioportal
34	LRRK2	Ssm	4	496	0.8%	cbioportal
35	MACF1	Ssm	4	496	0.8%	cbioportal
36	MAP3K3	Ssm	4	496	0.8%	cbioportal
37	MYH13	Ssm	4	496	0.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Papillary Thyroid Carcinoma (TCGA, Cell 2014) thca_tcga_pubTCGA

496 cases with simple somatic mutation data · 496 cases total · 2026-01-13 · mapped to Thyroid Gland Papillary Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	240	496	48.4%	cbioportal
2	TERT	Ssm	37	496	7.5%	cbioportal
3	NRAS	Ssm	34	496	6.9%	cbioportal
4	HRAS	Ssm	14	496	2.8%	cbioportal
5	TTN	Ssm	13	496	2.6%	cbioportal
6	TG	Ssm	11	496	2.2%	cbioportal
7	MUC16	Ssm	10	496	2%	cbioportal
8	DNAH9	Ssm	9	496	1.8%	cbioportal
9	KMT2A	Ssm	7	496	1.4%	cbioportal
10	ZFHX3	Ssm	7	496	1.4%	cbioportal
11	EIF1AX	Ssm	6	496	1.2%	cbioportal
12	SPTA1	Ssm	6	496	1.2%	cbioportal
17	BDP1	Ssm	5	496	1%	cbioportal
27	PRKDC	Ssm	5	496	1%	cbioportal
26	PPM1D	Ssm	5	496	1%	cbioportal
25	OTUD4	Ssm	5	496	1%	cbioportal
24	OBSCN	Ssm	5	496	1%	cbioportal
23	MUC5B	Ssm	5	496	1%	cbioportal
22	LRP1	Ssm	5	496	1%	cbioportal
21	ITPR2	Ssm	5	496	1%	cbioportal
20	COL5A3	Ssm	5	496	1%	cbioportal
19	CHEK2	Ssm	5	496	1%	cbioportal
18	CACNA1E	Ssm	5	496	1%	cbioportal
16	ATM	Ssm	5	496	1%	cbioportal
15	ARID1B	Ssm	5	496	1%	cbioportal
14	APOB	Ssm	5	496	1%	cbioportal
13	ADGRV1	Ssm	5	496	1%	cbioportal
30	CDH8	Ssm	4	496	0.8%	cbioportal
29	CD163	Ssm	4	496	0.8%	cbioportal
28	ARFGEF2	Ssm	4	496	0.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Pediatric Acute Lymphoid Leukemia - Phase II (TARGET, 2018) all_phase2_target_2018_pubTARGET

150 cases with simple somatic mutation data · 1,978 cases total · 2026-01-05 · mapped to B Lymphoblastic Leukemia/Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NRAS	Ssm	16	150	10.7%	cbioportal
2	KRAS	Ssm	8	150	5.3%	cbioportal
5	TP53	Ssm	6	150	4%	cbioportal
3	CREBBP	Ssm	6	150	4%	cbioportal
4	PTPN11	Ssm	6	150	4%	cbioportal
8	NSD2	Ssm	5	150	3.3%	cbioportal
7	JAK2	Ssm	5	150	3.3%	cbioportal
6	FLT3	Ssm	5	150	3.3%	cbioportal
10	NOTCH2	Ssm	4	150	2.7%	cbioportal
9	CDK11A	Ssm	4	150	2.7%	cbioportal
12	HLA-C	Ssm	3	150	2%	cbioportal
16	TAS2R19	Ssm	3	150	2%	cbioportal
13	KMT2D	Ssm	3	150	2%	cbioportal
11	DOT1L	Ssm	3	150	2%	cbioportal
14	OVGP1	Ssm	3	150	2%	cbioportal
15	QRICH2	Ssm	3	150	2%	cbioportal
22	ELL	Ssm	2	150	1.3%	cbioportal
23	EZH2	Ssm	2	150	1.3%	cbioportal
24	FCGBP	Ssm	2	150	1.3%	cbioportal
25	FHL3	Ssm	2	150	1.3%	cbioportal
26	FURIN	Ssm	2	150	1.3%	cbioportal
27	GCNA	Ssm	2	150	1.3%	cbioportal
28	GNB1	Ssm	2	150	1.3%	cbioportal
29	HDHD5	Ssm	2	150	1.3%	cbioportal
30	HLA-DRB1	Ssm	2	150	1.3%	cbioportal
20	CEP162	Ssm	2	150	1.3%	cbioportal
19	CCDC186	Ssm	2	150	1.3%	cbioportal
18	ATF7IP	Ssm	2	150	1.3%	cbioportal
17	APOE	Ssm	2	150	1.3%	cbioportal
21	ECPAS	Ssm	2	150	1.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Pediatric Acute Myeloid Leukemia (St. Jude, Nat Genet 2024) aml_stjude_2024St. Jude

887 cases with simple somatic mutation data · 887 cases total · 2026-03-16 · mapped to Acute Myeloid Leukemia EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NRAS	Ssm	188	887	21.2%	cbioportal
2	WT1	Ssm	116	887	13.1%	cbioportal
3	KIT	Ssm	88	887	9.9%	cbioportal
4	FLT3	Ssm	79	887	8.9%	cbioportal
5	KRAS	Ssm	78	887	8.8%	cbioportal
6	NPM1	Ssm	67	887	7.6%	cbioportal
7	PTPN11	Ssm	59	887	6.7%	cbioportal
8	CEBPA	Ssm	56	887	6.3%	cbioportal
9	ASXL2	Ssm	29	887	3.3%	cbioportal
10	ZBTB7A	Ssm	29	887	3.3%	cbioportal
11	GATA2	Ssm	27	887	3%	cbioportal
12	NF1	Ssm	26	887	2.9%	cbioportal
13	RUNX1	Ssm	26	887	2.9%	cbioportal
14	IDH2	Ssm	22	887	2.5%	cbioportal
15	SETD2	Ssm	22	887	2.5%	cbioportal
16	RAD21	Ssm	21	887	2.4%	cbioportal
17	TP53	Ssm	18	887	2%	cbioportal
20	PHF6	Ssm	17	887	1.9%	cbioportal
19	KDM6A	Ssm	17	887	1.9%	cbioportal
18	GATA1	Ssm	17	887	1.9%	cbioportal
21	TET2	Ssm	17	887	1.9%	cbioportal
22	CCND3	Ssm	16	887	1.8%	cbioportal
24	ETV6	Ssm	15	887	1.7%	cbioportal
26	IKZF1	Ssm	15	887	1.7%	cbioportal
23	ASXL1	Ssm	15	887	1.7%	cbioportal
25	EZH2	Ssm	15	887	1.7%	cbioportal
28	KMT2C	Ssm	14	887	1.6%	cbioportal
27	BCOR	Ssm	14	887	1.6%	cbioportal
29	MPL	Ssm	14	887	1.6%	cbioportal
30	CTCF	Ssm	13	887	1.5%	cbioportal

Data updated 22 days agoSource updated 2026-03-16

Pediatric Acute Myeloid Leukemia (TARGET, 2018) aml_target_2018_pubTARGET

150 cases with simple somatic mutation data · 1,025 cases total · 2026-01-05 · mapped to Acute Myeloid Leukemia EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NRAS	Ssm	22	150	14.7%	cbioportal
2	KIT	Ssm	15	150	10%	cbioportal
3	FLT3	Ssm	10	150	6.7%	cbioportal
4	KRAS	Ssm	9	150	6%	cbioportal
5	PTPN11	Ssm	9	150	6%	cbioportal
7	WT1	Ssm	5	150	3.3%	cbioportal
6	TET2	Ssm	5	150	3.3%	cbioportal
12	IKZF1	Ssm	4	150	2.7%	cbioportal
10	GATA2	Ssm	4	150	2.7%	cbioportal
9	CDK11A	Ssm	4	150	2.7%	cbioportal
8	CCND2	Ssm	4	150	2.7%	cbioportal
13	SLX9	Ssm	4	150	2.7%	cbioportal
11	IDH2	Ssm	4	150	2.7%	cbioportal
16	NOM1	Ssm	3	150	2%	cbioportal
15	HLA-DQA1	Ssm	3	150	2%	cbioportal
14	AKAP9	Ssm	3	150	2%	cbioportal
18	SORD	Ssm	3	150	2%	cbioportal
17	SMC3	Ssm	3	150	2%	cbioportal
23	CTSH	Ssm	2	150	1.3%	cbioportal
25	DHX15	Ssm	2	150	1.3%	cbioportal
26	EP300	Ssm	2	150	1.3%	cbioportal
27	EZH2	Ssm	2	150	1.3%	cbioportal
28	HLA-C	Ssm	2	150	1.3%	cbioportal
29	IGHMBP2	Ssm	2	150	1.3%	cbioportal
30	JAK2	Ssm	2	150	1.3%	cbioportal
24	CWC27	Ssm	2	150	1.3%	cbioportal
22	CSF3R	Ssm	2	150	1.3%	cbioportal
21	CLASP1	Ssm	2	150	1.3%	cbioportal
20	CITED4	Ssm	2	150	1.3%	cbioportal
19	ARRDC3	Ssm	2	150	1.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Pediatric Ewing Sarcoma (DFCI, Cancer Discov 2014) es_dfarber_broad_2014DFCI

107 cases with simple somatic mutation data · 107 cases total · 2026-01-07 · mapped to Ewing Sarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	30	107	28%	cbioportal
2	TP53	Ssm	13	107	12.1%	cbioportal
3	KMT2D	Ssm	12	107	11.2%	cbioportal
4	MUC6	Ssm	12	107	11.2%	cbioportal
5	ADGRV1	Ssm	11	107	10.3%	cbioportal
6	STAG2	Ssm	11	107	10.3%	cbioportal
7	EPPK1	Ssm	10	107	9.3%	cbioportal
8	AHNAK2	Ssm	9	107	8.4%	cbioportal
9	DNAH1	Ssm	9	107	8.4%	cbioportal
16	ZFHX3	Ssm	8	107	7.5%	cbioportal
15	THBS4	Ssm	8	107	7.5%	cbioportal
14	PCDH15	Ssm	8	107	7.5%	cbioportal
13	OBSCN	Ssm	8	107	7.5%	cbioportal
12	NPHP4	Ssm	8	107	7.5%	cbioportal
11	BSN	Ssm	8	107	7.5%	cbioportal
10	AHNAK	Ssm	8	107	7.5%	cbioportal
19	DSP	Ssm	7	107	6.5%	cbioportal
22	NEB	Ssm	7	107	6.5%	cbioportal
17	ATP7B	Ssm	7	107	6.5%	cbioportal
18	CR1	Ssm	7	107	6.5%	cbioportal
23	RPTN	Ssm	7	107	6.5%	cbioportal
24	SPEN	Ssm	7	107	6.5%	cbioportal
25	SPTA1	Ssm	7	107	6.5%	cbioportal
26	SYNE1	Ssm	7	107	6.5%	cbioportal
21	HRNR	Ssm	7	107	6.5%	cbioportal
20	FLG	Ssm	7	107	6.5%	cbioportal
29	COL18A1	Ssm	6	107	5.6%	cbioportal
28	ANK3	Ssm	6	107	5.6%	cbioportal
27	ABCA13	Ssm	6	107	5.6%	cbioportal
39	SORL1	Ssm	6	107	5.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Pediatric Low-Grade Glioma (CTF, Acta Neuropathol 2021) lgg_ctf_synodos_2025CTF

31 cases with simple somatic mutation data · 31 cases total · 2026-03-09 · mapped to Diffuse Glioma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NF1	Ssm	5	31	16.1%	cbioportal
4	PABPC3	Ssm	3	31	9.7%	cbioportal
2	ADPRHL1	Ssm	3	31	9.7%	cbioportal
3	ARSF	Ssm	3	31	9.7%	cbioportal
9	IBTK	Ssm	2	31	6.5%	cbioportal
17	ZNF827	Ssm	2	31	6.5%	cbioportal
16	ZDHHC11	Ssm	2	31	6.5%	cbioportal
15	UNC80	Ssm	2	31	6.5%	cbioportal
14	TRAV3	Ssm	2	31	6.5%	cbioportal
13	MUC16	Ssm	2	31	6.5%	cbioportal
12	KRTAP1-3	Ssm	2	31	6.5%	cbioportal
5	AK9	Ssm	2	31	6.5%	cbioportal
7	C7	Ssm	2	31	6.5%	cbioportal
6	BLTP1	Ssm	2	31	6.5%	cbioportal
10	KIF20B	Ssm	2	31	6.5%	cbioportal
11	KRT84	Ssm	2	31	6.5%	cbioportal
8	COL6A3	Ssm	2	31	6.5%	cbioportal
27	ACBD4	Ssm	1	31	3.2%	cbioportal
29	ACTR1A	Ssm	1	31	3.2%	cbioportal
30	ADAM12	Ssm	1	31	3.2%	cbioportal
18	A4GALT	Ssm	1	31	3.2%	cbioportal
19	ABCA13	Ssm	1	31	3.2%	cbioportal
20	ABCA7	Ssm	1	31	3.2%	cbioportal
21	ABCB7	Ssm	1	31	3.2%	cbioportal
22	ABCC2	Ssm	1	31	3.2%	cbioportal
23	ABCC5	Ssm	1	31	3.2%	cbioportal
24	ABHD10	Ssm	1	31	3.2%	cbioportal
25	ABHD3	Ssm	1	31	3.2%	cbioportal
26	ABRAXAS1	Ssm	1	31	3.2%	cbioportal
28	ACCS	Ssm	1	31	3.2%	cbioportal

Data updated 22 days agoSource updated 2026-03-09

Pediatric Neuroblastoma (MSK, Nat Genet 2023) nbl_msk_2023MSK

223 cases with simple somatic mutation data · 223 cases total · 2026-02-10 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ALK	Ssm	33	223	14.8%	cbioportal
2	ATRX	Ssm	24	223	10.8%	cbioportal
3	SMARCA4	Ssm	9	223	4%	cbioportal
4	BRAF	Ssm	8	223	3.6%	cbioportal
5	BRCA2	Ssm	8	223	3.6%	cbioportal
6	TERT	Ssm	7	223	3.1%	cbioportal
15	KMT2B	Ssm	5	168	3%	cbioportal
12	ROS1	Ssm	6	223	2.7%	cbioportal
7	CREBBP	Ssm	6	223	2.7%	cbioportal
8	FAT1	Ssm	6	223	2.7%	cbioportal
10	KRAS	Ssm	6	223	2.7%	cbioportal
9	KMT2D	Ssm	6	223	2.7%	cbioportal
11	PTPN11	Ssm	6	223	2.7%	cbioportal
18	PDGFRA	Ssm	5	223	2.2%	cbioportal
17	NF1	Ssm	5	223	2.2%	cbioportal
13	CD79B	Ssm	5	223	2.2%	cbioportal
14	IRS2	Ssm	5	223	2.2%	cbioportal
16	NCOR1	Ssm	5	223	2.2%	cbioportal
46	TAP2	Ssm	3	167	1.8%	cbioportal
29	CSDE1	Ssm	3	167	1.8%	cbioportal
23	MYCN	Ssm	4	223	1.8%	cbioportal
21	CDK12	Ssm	4	223	1.8%	cbioportal
24	NRAS	Ssm	4	223	1.8%	cbioportal
19	ARID1A	Ssm	4	223	1.8%	cbioportal
22	ERBB3	Ssm	4	223	1.8%	cbioportal
20	AXL	Ssm	4	223	1.8%	cbioportal
25	PIK3R1	Ssm	4	223	1.8%	cbioportal
51	ZFHX3	Ssm	3	219	1.4%	cbioportal
42	PTPRT	Ssm	3	222	1.4%	cbioportal
48	TMPRSS2	Ssm	3	222	1.4%	cbioportal

Data updated 22 days agoSource updated 2026-02-10

Pediatric Neuroblastoma (TARGET, 2018) nbl_target_2018_pubTARGET

1,089 cases with simple somatic mutation data · 1,089 cases total · 2026-01-08 · mapped to Neuroblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NBPF10	Ssm	7	1,089	0.6%	cbioportal
2	DNAH2	Ssm	5	1,089	0.5%	cbioportal
3	PTPN11	Ssm	5	1,089	0.5%	cbioportal
4	COL6A3	Ssm	4	1,089	0.4%	cbioportal
7	TET2	Ssm	4	1,089	0.4%	cbioportal
5	NBPF1	Ssm	4	1,089	0.4%	cbioportal
6	NF1	Ssm	4	1,089	0.4%	cbioportal
9	COL5A3	Ssm	3	1,089	0.3%	cbioportal
10	MYCN	Ssm	3	1,089	0.3%	cbioportal
8	AXL	Ssm	3	1,089	0.3%	cbioportal
30	LRIF1	Ssm	2	1,089	0.2%	cbioportal
12	AR	Ssm	2	1,089	0.2%	cbioportal
11	AFF3	Ssm	2	1,089	0.2%	cbioportal
25	FAT1	Ssm	2	1,089	0.2%	cbioportal
26	HERC1	Ssm	2	1,089	0.2%	cbioportal
27	IL31RA	Ssm	2	1,089	0.2%	cbioportal
28	KCNH4	Ssm	2	1,089	0.2%	cbioportal
29	KRTAP4-9	Ssm	2	1,089	0.2%	cbioportal
13	ARID1B	Ssm	2	1,089	0.2%	cbioportal
14	ASB5	Ssm	2	1,089	0.2%	cbioportal
15	ATM	Ssm	2	1,089	0.2%	cbioportal
16	CACNA1A	Ssm	2	1,089	0.2%	cbioportal
17	CACNA1B	Ssm	2	1,089	0.2%	cbioportal
18	CARD11	Ssm	2	1,089	0.2%	cbioportal
19	CNTN5	Ssm	2	1,089	0.2%	cbioportal
20	COL12A1	Ssm	2	1,089	0.2%	cbioportal
21	CSPG4	Ssm	2	1,089	0.2%	cbioportal
22	DOCK8	Ssm	2	1,089	0.2%	cbioportal
23	EP400	Ssm	2	1,089	0.2%	cbioportal
24	EPHA6	Ssm	2	1,089	0.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Pediatric Rhabdomyosarcomas (MSK, JCO Precis Oncol 2023) rms_msk_2023MSK

24 cases with simple somatic mutation data · 24 cases total · 2026-01-16 · mapped to Rhabdomyosarcoma EXACT_IDENTIFIER

cbioportalObserved20 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MED12	Ssm	3	24	12.5%	cbioportal
2	MYOD1	Ssm	2	24	8.3%	cbioportal
10	KMT2B	Ssm	1	19	5.3%	cbioportal
18	TP53BP1	Ssm	1	19	5.3%	cbioportal
20	ZFHX3	Ssm	1	22	4.5%	cbioportal
19	XPO1	Ssm	1	24	4.2%	cbioportal
16	PTPRD	Ssm	1	24	4.2%	cbioportal
15	PTEN	Ssm	1	24	4.2%	cbioportal
14	PIK3CA	Ssm	1	24	4.2%	cbioportal
13	NOTCH4	Ssm	1	24	4.2%	cbioportal
12	NOTCH1	Ssm	1	24	4.2%	cbioportal
11	NF1	Ssm	1	24	4.2%	cbioportal
9	KDM6A	Ssm	1	24	4.2%	cbioportal
8	HRAS	Ssm	1	24	4.2%	cbioportal
7	GRIN2A	Ssm	1	24	4.2%	cbioportal
6	DNMT3B	Ssm	1	24	4.2%	cbioportal
5	BCOR	Ssm	1	24	4.2%	cbioportal
4	ARID5B	Ssm	1	24	4.2%	cbioportal
3	APC	Ssm	1	24	4.2%	cbioportal
17	PTPRS	Ssm	1	24	4.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Pediatric Wilms' Tumor (TARGET, 2018) wt_target_2018_pubTARGET

657 cases with simple somatic mutation data · 657 cases total · 2026-01-16 · mapped to Wilms Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	15	657	2.3%	cbioportal
2	CTNNB1	Ssm	7	657	1.1%	cbioportal
3	HLA-DQB1	Ssm	7	657	1.1%	cbioportal
4	CDK11A	Ssm	6	657	0.9%	cbioportal
5	DROSHA	Ssm	6	657	0.9%	cbioportal
8	SIX1	Ssm	4	657	0.6%	cbioportal
10	WT1	Ssm	4	657	0.6%	cbioportal
9	TMPRSS13	Ssm	4	657	0.6%	cbioportal
7	MAP3K4	Ssm	4	657	0.6%	cbioportal
6	ADCK5	Ssm	4	657	0.6%	cbioportal
14	HYDIN	Ssm	3	657	0.5%	cbioportal
12	AGRN	Ssm	3	657	0.5%	cbioportal
11	ACTB	Ssm	3	657	0.5%	cbioportal
17	ZNF880	Ssm	3	657	0.5%	cbioportal
16	ZNF595	Ssm	3	657	0.5%	cbioportal
15	MADCAM1	Ssm	3	657	0.5%	cbioportal
13	DGCR8	Ssm	3	657	0.5%	cbioportal
30	FAM50A	Ssm	2	657	0.3%	cbioportal
18	AK9	Ssm	2	657	0.3%	cbioportal
19	ARID2	Ssm	2	657	0.3%	cbioportal
20	ATN1	Ssm	2	657	0.3%	cbioportal
21	ATR	Ssm	2	657	0.3%	cbioportal
22	BCOR	Ssm	2	657	0.3%	cbioportal
23	CCDC74B	Ssm	2	657	0.3%	cbioportal
24	CDC42EP1	Ssm	2	657	0.3%	cbioportal
25	CHD4	Ssm	2	657	0.3%	cbioportal
26	CSMD2	Ssm	2	657	0.3%	cbioportal
27	DCP1A	Ssm	2	657	0.3%	cbioportal
28	EGFLAM	Ssm	2	657	0.3%	cbioportal
29	ETNK2	Ssm	2	657	0.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Pilocytic Astrocytoma (ICGC, Nature Genetics 2013) past_dkfz_heidelberg_2013ICGC

96 cases with simple somatic mutation data · 96 cases total · 2026-01-12 · mapped to Pilocytic Astrocytoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	7	96	7.3%	cbioportal
2	FGFR1	Ssm	5	96	5.2%	cbioportal
3	NF1	Ssm	3	96	3.1%	cbioportal
5	IL4R	Ssm	2	96	2.1%	cbioportal
4	ABCB7	Ssm	2	96	2.1%	cbioportal
7	KRAS	Ssm	2	96	2.1%	cbioportal
6	KIAA1549	Ssm	2	96	2.1%	cbioportal
8	PTPN11	Ssm	2	96	2.1%	cbioportal
9	SETD2	Ssm	2	96	2.1%	cbioportal
19	AKAP7	Ssm	1	96	1%	cbioportal
37	CREBBP	Ssm	1	96	1%	cbioportal
36	CREB3L3	Ssm	1	96	1%	cbioportal
35	COL7A1	Ssm	1	96	1%	cbioportal
34	CLDND1	Ssm	1	96	1%	cbioportal
33	CLDN19	Ssm	1	96	1%	cbioportal
32	CDC42EP4	Ssm	1	96	1%	cbioportal
31	CCR5	Ssm	1	96	1%	cbioportal
30	CBX4	Ssm	1	96	1%	cbioportal
29	C6	Ssm	1	96	1%	cbioportal
28	BRD10	Ssm	1	96	1%	cbioportal
27	BCOR	Ssm	1	96	1%	cbioportal
26	BBS2	Ssm	1	96	1%	cbioportal
25	ATP2B3	Ssm	1	96	1%	cbioportal
24	ARAP1	Ssm	1	96	1%	cbioportal
23	APOB	Ssm	1	96	1%	cbioportal
22	ANKRD36	Ssm	1	96	1%	cbioportal
21	ANGPTL1	Ssm	1	96	1%	cbioportal
20	AMBP	Ssm	1	96	1%	cbioportal
18	AK7	Ssm	1	96	1%	cbioportal
38	CRNKL1	Ssm	1	96	1%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Pituitary Adenoma (MSK, 2026) ptad_msk_2026MSK

62 cases with simple somatic mutation data · 62 cases total · 2026-08-24 · mapped to Pituitary Neuroendocrine Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
134	SNUPN	Ssm	2	2	100%	cbioportal
112	OR51I2	Ssm	2	2	100%	cbioportal
113	OR5A2	Ssm	2	2	100%	cbioportal
73	COL16A1	Ssm	2	2	100%	cbioportal
118	PPP1R12B	Ssm	2	2	100%	cbioportal
125	RAX2	Ssm	2	2	100%	cbioportal
131	SH3TC1	Ssm	2	2	100%	cbioportal
148	ZNF235	Ssm	2	2	100%	cbioportal
146	UAP1	Ssm	2	2	100%	cbioportal
144	TRMT6	Ssm	2	2	100%	cbioportal
106	MYO10	Ssm	2	2	100%	cbioportal
149	ABI3BP	Ssm	1	2	50%	cbioportal
176	CLVS2	Ssm	1	2	50%	cbioportal
150	ADK	Ssm	1	2	50%	cbioportal
182	CTSC	Ssm	1	2	50%	cbioportal
1	TP53	Ssm	22	62	35.5%	cbioportal
2	ATRX	Ssm	10	62	16.1%	cbioportal
8	USP8	Ssm	5	41	12.2%	cbioportal
3	KMT2C	Ssm	7	62	11.3%	cbioportal
4	DAXX	Ssm	6	62	9.7%	cbioportal
7	SPEN	Ssm	5	62	8.1%	cbioportal
6	MSH6	Ssm	5	62	8.1%	cbioportal
5	APC	Ssm	5	62	8.1%	cbioportal
20	TSC2	Ssm	4	62	6.5%	cbioportal
19	TERT	Ssm	4	62	6.5%	cbioportal
10	ARID2	Ssm	4	62	6.5%	cbioportal
9	ANKRD11	Ssm	4	62	6.5%	cbioportal
11	EPHB1	Ssm	4	62	6.5%	cbioportal
12	JAK1	Ssm	4	62	6.5%	cbioportal
18	TBX3	Ssm	4	62	6.5%	cbioportal

Data updated 22 days agoSource updated 2026-08-24

Pituitary Adenoma (MSK, Acta Neuropathologica 2024) ptad_msk_2024MSK

104 cases with simple somatic mutation data · 104 cases total · 2026-01-16 · mapped to Pituitary Neuroendocrine Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	15	104	14.4%	cbioportal
114	SMARCA2	Ssm	2	15	13.3%	cbioportal
125	USP8	Ssm	2	15	13.3%	cbioportal
155	CTR9	Ssm	1	15	6.7%	cbioportal
197	KLF5	Ssm	1	15	6.7%	cbioportal
128	ARHGAP35	Ssm	1	15	6.7%	cbioportal
2	KMT2C	Ssm	6	104	5.8%	cbioportal
5	DAXX	Ssm	5	104	4.8%	cbioportal
4	ATRX	Ssm	5	104	4.8%	cbioportal
6	GNAS	Ssm	5	104	4.8%	cbioportal
8	SPEN	Ssm	5	104	4.8%	cbioportal
7	KMT2D	Ssm	5	104	4.8%	cbioportal
3	ANKRD11	Ssm	5	104	4.8%	cbioportal
13	KDM6A	Ssm	4	104	3.8%	cbioportal
12	JAK1	Ssm	4	104	3.8%	cbioportal
11	EPHB1	Ssm	4	104	3.8%	cbioportal
10	ASXL1	Ssm	4	104	3.8%	cbioportal
9	APC	Ssm	4	104	3.8%	cbioportal
19	TBX3	Ssm	4	104	3.8%	cbioportal
18	PIK3CD	Ssm	4	104	3.8%	cbioportal
17	NSD1	Ssm	4	104	3.8%	cbioportal
16	MSH6	Ssm	4	104	3.8%	cbioportal
15	MGA	Ssm	4	104	3.8%	cbioportal
14	MEN1	Ssm	4	104	3.8%	cbioportal
20	TSC2	Ssm	4	104	3.8%	cbioportal
41	TP53BP1	Ssm	3	101	3%	cbioportal
30	INPPL1	Ssm	3	101	3%	cbioportal
42	WWTR1	Ssm	3	101	3%	cbioportal
28	CSDE1	Ssm	3	101	3%	cbioportal
39	PRKD1	Ssm	3	101	3%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Pre-cancer Colorectal Polyps (HTAN Vanderbilt, Cell 2021) crc_hta11_htan_2021HTAN Vanderbilt

30 cases with simple somatic mutation data · 61 cases total · 2026-01-16 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	20	30	66.7%	cbioportal
2	MUC16	Ssm	17	30	56.7%	cbioportal
3	PCLO	Ssm	17	30	56.7%	cbioportal
5	MUC19	Ssm	16	30	53.3%	cbioportal
6	SYNE1	Ssm	16	30	53.3%	cbioportal
4	MUC17	Ssm	16	30	53.3%	cbioportal
7	APC	Ssm	15	30	50%	cbioportal
8	FLG	Ssm	15	30	50%	cbioportal
9	FSIP2	Ssm	14	30	46.7%	cbioportal
10	RNF213	Ssm	14	30	46.7%	cbioportal
13	DNAH10	Ssm	13	30	43.3%	cbioportal
14	DNAH5	Ssm	13	30	43.3%	cbioportal
15	HECTD4	Ssm	13	30	43.3%	cbioportal
16	HMCN1	Ssm	13	30	43.3%	cbioportal
17	LAMA3	Ssm	13	30	43.3%	cbioportal
18	MKI67	Ssm	13	30	43.3%	cbioportal
19	MUC12	Ssm	13	30	43.3%	cbioportal
21	PRRC2C	Ssm	13	30	43.3%	cbioportal
20	MUC4	Ssm	13	30	43.3%	cbioportal
22	TENM2	Ssm	13	30	43.3%	cbioportal
11	CHD7	Ssm	13	30	43.3%	cbioportal
12	CUBN	Ssm	13	30	43.3%	cbioportal
26	LRP2	Ssm	12	30	40%	cbioportal
25	KMT2C	Ssm	12	30	40%	cbioportal
30	UBR5	Ssm	12	30	40%	cbioportal
29	POGZ	Ssm	12	30	40%	cbioportal
28	OBSCN	Ssm	12	30	40%	cbioportal
27	MACF1	Ssm	12	30	40%	cbioportal
24	KMT2A	Ssm	12	30	40%	cbioportal
23	CEP350	Ssm	12	30	40%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Primary Central Nervous System Lymphoma (Mayo Clinic, Clin Cancer Res 2015) pcnsl_mayo_2015Mayo Clinic

10 cases with simple somatic mutation data · 19 cases total · 2026-01-12 · mapped to Primary Central Nervous System Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MYD88	Ssm	7	10	70%	cbioportal
5	SMG5	Ssm	4	10	40%	cbioportal
4	PIM1	Ssm	4	10	40%	cbioportal
3	DLGAP2	Ssm	4	10	40%	cbioportal
2	CD79B	Ssm	4	10	40%	cbioportal
6	BTG2	Ssm	3	10	30%	cbioportal
7	CARD11	Ssm	3	10	30%	cbioportal
8	DSG4	Ssm	3	10	30%	cbioportal
9	DST	Ssm	3	10	30%	cbioportal
10	FAT4	Ssm	3	10	30%	cbioportal
11	KLHL14	Ssm	3	10	30%	cbioportal
12	LRP1B	Ssm	3	10	30%	cbioportal
13	PRR12	Ssm	3	10	30%	cbioportal
14	TCL1A	Ssm	3	10	30%	cbioportal
15	TENM1	Ssm	3	10	30%	cbioportal
18	ANGPTL6	Ssm	2	10	20%	cbioportal
21	BCL2	Ssm	2	10	20%	cbioportal
20	ARAF	Ssm	2	10	20%	cbioportal
16	A2ML1	Ssm	2	10	20%	cbioportal
17	AHNAK	Ssm	2	10	20%	cbioportal
19	APBA1	Ssm	2	10	20%	cbioportal
30	CNTNAP5	Ssm	2	10	20%	cbioportal
29	CHPF2	Ssm	2	10	20%	cbioportal
28	CFAP47	Ssm	2	10	20%	cbioportal
27	CEP295	Ssm	2	10	20%	cbioportal
26	CDKN1B	Ssm	2	10	20%	cbioportal
25	CCDC7	Ssm	2	10	20%	cbioportal
23	BTG1	Ssm	2	10	20%	cbioportal
24	C10ORF71	Ssm	2	10	20%	cbioportal
22	BSN	Ssm	2	10	20%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Primary CNS Lymphoma (MSK, Clin Cancer Res 2024) pcnsl_msk_2024MSK

86 cases with simple somatic mutation data · 86 cases total · 2026-01-12 · mapped to Primary Central Nervous System Lymphoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MYD88	Ssm	37	86	43%	cbioportal
2	PIM1	Ssm	33	86	38.4%	cbioportal
4	KMT2D	Ssm	20	86	23.3%	cbioportal
3	CD79B	Ssm	20	86	23.3%	cbioportal
5	DTX1	Ssm	18	86	20.9%	cbioportal
6	H1-4	Ssm	16	86	18.6%	cbioportal
7	BTG2	Ssm	15	86	17.4%	cbioportal
8	BTG1	Ssm	14	86	16.3%	cbioportal
9	ETV6	Ssm	14	86	16.3%	cbioportal
10	TBL1XR1	Ssm	14	86	16.3%	cbioportal
11	HLA-A	Ssm	13	86	15.1%	cbioportal
12	SETD1B	Ssm	12	86	14%	cbioportal
13	GNA13	Ssm	11	86	12.8%	cbioportal
14	SOCS1	Ssm	10	86	11.6%	cbioportal
15	B2M	Ssm	9	86	10.5%	cbioportal
16	CARD11	Ssm	9	86	10.5%	cbioportal
17	IRF4	Ssm	9	86	10.5%	cbioportal
18	MPEG1	Ssm	9	86	10.5%	cbioportal
20	H1-2	Ssm	8	86	9.3%	cbioportal
19	CREBBP	Ssm	8	86	9.3%	cbioportal
27	PCLO	Ssm	7	86	8.1%	cbioportal
28	PHOX2B	Ssm	7	86	8.1%	cbioportal
29	TP53	Ssm	7	86	8.1%	cbioportal
24	KMT2C	Ssm	7	86	8.1%	cbioportal
23	FAT1	Ssm	7	86	8.1%	cbioportal
22	CXCR4	Ssm	7	86	8.1%	cbioportal
21	CCND3	Ssm	7	86	8.1%	cbioportal
25	LTB	Ssm	7	86	8.1%	cbioportal
26	PCBP1	Ssm	7	86	8.1%	cbioportal
30	CD70	Ssm	6	86	7%	cbioportal

Data updated 22 days agoSource updated 2026-01-12

Prostate Adenocarcinoma TCGA-PRADTCGA

500 cases with simple somatic mutation data · 500 cases total · Data Release 46.0 · mapped to Prostate Adenocarcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CCAR2	Ssm	298	500	59.6%	gdc
2	XPO7	Ssm	297	500	59.4%	gdc
4	C8orf58	Ssm	297	500	59.4%	gdc
3	BIN3	Ssm	297	500	59.4%	gdc
11	AC037459.1	Ssm	296	500	59.2%	gdc
12	PEBP4	Ssm	296	500	59.2%	gdc
5	SORBS3	Ssm	296	500	59.2%	gdc
6	RHOBTB2	Ssm	296	500	59.2%	gdc
7	PIWIL2	Ssm	296	500	59.2%	gdc
8	BMP1	Ssm	296	500	59.2%	gdc
9	PPP3CC	Ssm	296	500	59.2%	gdc
10	TNFRSF10C	Ssm	296	500	59.2%	gdc
17	DMTN	Ssm	295	500	59%	gdc
16	REEP4	Ssm	295	500	59%	gdc
15	EGR3	Ssm	295	500	59%	gdc
14	AC107959.5	Ssm	295	500	59%	gdc
13	HR	Ssm	295	500	59%	gdc
23	TNFRSF10A	Ssm	295	500	59%	gdc
22	PDLIM2	Ssm	295	500	59%	gdc
21	FAM160B2	Ssm	295	500	59%	gdc
20	TNFRSF10D	Ssm	295	500	59%	gdc
19	POLR3D	Ssm	295	500	59%	gdc
18	DOK2	Ssm	295	500	59%	gdc
28	NPM2	Ssm	294	500	58.8%	gdc
29	R3HCC1	Ssm	294	500	58.8%	gdc
30	SLC25A37	Ssm	294	500	58.8%	gdc
25	TNFRSF10B	Ssm	294	500	58.8%	gdc
24	CHMP7	Ssm	294	500	58.8%	gdc
26	NKX3-1	Ssm	294	500	58.8%	gdc
27	LGI3	Ssm	294	500	58.8%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Prostate Adenocarcinoma (Broad/Cornell, Cell 2013) prad_broad_2013Broad/Cornell

57 cases with simple somatic mutation data · 82 cases total · 2026-01-13 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MUC4	Ssm	7	57	12.3%	cbioportal
3	MUC16	Ssm	6	57	10.5%	cbioportal
4	TP53	Ssm	6	57	10.5%	cbioportal
2	ATM	Ssm	6	57	10.5%	cbioportal
7	MACF1	Ssm	5	57	8.8%	cbioportal
6	KMT2C	Ssm	5	57	8.8%	cbioportal
5	FOXA1	Ssm	5	57	8.8%	cbioportal
13	ZAN	Ssm	4	57	7%	cbioportal
12	TTN	Ssm	4	57	7%	cbioportal
11	SPOP	Ssm	4	57	7%	cbioportal
10	PLCB3	Ssm	4	57	7%	cbioportal
9	FLG	Ssm	4	57	7%	cbioportal
8	BRINP2	Ssm	4	57	7%	cbioportal
26	FASN	Ssm	3	57	5.3%	cbioportal
25	DYNC2I1	Ssm	3	57	5.3%	cbioportal
24	DMD	Ssm	3	57	5.3%	cbioportal
23	CSMD3	Ssm	3	57	5.3%	cbioportal
22	CS	Ssm	3	57	5.3%	cbioportal
34	SIPA1L1	Ssm	3	57	5.3%	cbioportal
19	CD8B	Ssm	3	57	5.3%	cbioportal
36	TNXB	Ssm	3	57	5.3%	cbioportal
35	SUZ12	Ssm	3	57	5.3%	cbioportal
20	CLIC6	Ssm	3	57	5.3%	cbioportal
30	MUC2	Ssm	3	57	5.3%	cbioportal
31	NBPF1	Ssm	3	57	5.3%	cbioportal
32	POTEF	Ssm	3	57	5.3%	cbioportal
33	PRDM9	Ssm	3	57	5.3%	cbioportal
27	FBN3	Ssm	3	57	5.3%	cbioportal
28	IGSF10	Ssm	3	57	5.3%	cbioportal
29	KRT8	Ssm	3	57	5.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Prostate Adenocarcinoma (Broad/Cornell, Nat Genet 2012) prad_broadBroad/Cornell

112 cases with simple somatic mutation data · 123 cases total · 2026-01-13 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SPOP	Ssm	14	112	12.5%	cbioportal
2	TTN	Ssm	11	112	9.8%	cbioportal
3	THSD7B	Ssm	7	112	6.3%	cbioportal
4	TP53	Ssm	7	112	6.3%	cbioportal
9	SPTA1	Ssm	6	112	5.4%	cbioportal
8	SCN11A	Ssm	6	112	5.4%	cbioportal
7	MED12	Ssm	6	112	5.4%	cbioportal
6	HMCN1	Ssm	6	112	5.4%	cbioportal
5	FAT4	Ssm	6	112	5.4%	cbioportal
17	SYNE3	Ssm	5	112	4.5%	cbioportal
10	ABCA13	Ssm	5	112	4.5%	cbioportal
11	FAT1	Ssm	5	112	4.5%	cbioportal
12	FLG	Ssm	5	112	4.5%	cbioportal
13	MDN1	Ssm	5	112	4.5%	cbioportal
14	NBAS	Ssm	5	112	4.5%	cbioportal
15	OBSCN	Ssm	5	112	4.5%	cbioportal
16	PTEN	Ssm	5	112	4.5%	cbioportal
25	FOXA1	Ssm	4	112	3.6%	cbioportal
30	MYO18B	Ssm	4	112	3.6%	cbioportal
29	MUC16	Ssm	4	112	3.6%	cbioportal
28	LRP1B	Ssm	4	112	3.6%	cbioportal
27	ITPR1	Ssm	4	112	3.6%	cbioportal
26	FRAS1	Ssm	4	112	3.6%	cbioportal
24	FNDC1	Ssm	4	112	3.6%	cbioportal
23	FMN2	Ssm	4	112	3.6%	cbioportal
22	DISP3	Ssm	4	112	3.6%	cbioportal
21	CUX1	Ssm	4	112	3.6%	cbioportal
20	CTNNA2	Ssm	4	112	3.6%	cbioportal
19	CD1A	Ssm	4	112	3.6%	cbioportal
18	CACNA1E	Ssm	4	112	3.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Prostate Adenocarcinoma (CPC-GENE, Nature 2017) prad_cpcg_2017CPC-GENE

477 cases with simple somatic mutation data · 477 cases total · 2026-01-13 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SPOP	Ssm	38	477	8%	cbioportal
2	TTN	Ssm	21	477	4.4%	cbioportal
3	TP53	Ssm	16	477	3.4%	cbioportal
4	MUC16	Ssm	12	477	2.5%	cbioportal
5	FOXA1	Ssm	11	477	2.3%	cbioportal
6	MED12	Ssm	11	477	2.3%	cbioportal
8	PRB4	Ssm	9	477	1.9%	cbioportal
7	C6	Ssm	9	477	1.9%	cbioportal
10	RYR2	Ssm	9	477	1.9%	cbioportal
9	QRICH2	Ssm	9	477	1.9%	cbioportal
11	ATM	Ssm	8	477	1.7%	cbioportal
12	KMT2C	Ssm	8	477	1.7%	cbioportal
13	PCDH15	Ssm	7	477	1.5%	cbioportal
14	SYNE1	Ssm	7	477	1.5%	cbioportal
15	TPTE	Ssm	7	477	1.5%	cbioportal
16	ADAMTS20	Ssm	6	477	1.3%	cbioportal
17	AHNAK2	Ssm	6	477	1.3%	cbioportal
18	C9	Ssm	6	477	1.3%	cbioportal
19	CSMD3	Ssm	6	477	1.3%	cbioportal
20	FAT3	Ssm	6	477	1.3%	cbioportal
21	SPTA1	Ssm	6	477	1.3%	cbioportal
29	FAT1	Ssm	5	477	1%	cbioportal
27	COL11A1	Ssm	5	477	1%	cbioportal
26	CNTNAP5	Ssm	5	477	1%	cbioportal
25	CFAP65	Ssm	5	477	1%	cbioportal
24	C7	Ssm	5	477	1%	cbioportal
23	C3	Ssm	5	477	1%	cbioportal
22	ANK2	Ssm	5	477	1%	cbioportal
30	FNDC1	Ssm	5	477	1%	cbioportal
28	DCAF4L2	Ssm	5	477	1%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Prostate Adenocarcinoma (Fred Hutchinson CRC, Nat Med 2016) prad_fhcrcFred Hutchinson CRC

141 cases with simple somatic mutation data · 176 cases total · 2026-01-13 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	57	141	40.4%	cbioportal
5	TTN	Ssm	18	141	12.8%	cbioportal
4	RNF213	Ssm	18	141	12.8%	cbioportal
2	CSMD3	Ssm	18	141	12.8%	cbioportal
3	MUC16	Ssm	18	141	12.8%	cbioportal
6	DCHS2	Ssm	17	141	12.1%	cbioportal
7	OBSCN	Ssm	17	141	12.1%	cbioportal
10	LRP1B	Ssm	16	141	11.3%	cbioportal
11	RYR2	Ssm	16	141	11.3%	cbioportal
8	ATM	Ssm	16	141	11.3%	cbioportal
9	HERC2	Ssm	16	141	11.3%	cbioportal
12	CDH11	Ssm	15	141	10.6%	cbioportal
14	TICRR	Ssm	15	141	10.6%	cbioportal
13	DNAH6	Ssm	15	141	10.6%	cbioportal
15	ZFHX3	Ssm	15	141	10.6%	cbioportal
20	PLCG1	Ssm	14	141	9.9%	cbioportal
17	CENPF	Ssm	14	141	9.9%	cbioportal
16	ABCA13	Ssm	14	141	9.9%	cbioportal
21	SPTA1	Ssm	14	141	9.9%	cbioportal
19	PCDHA6	Ssm	14	141	9.9%	cbioportal
18	KMT2D	Ssm	14	141	9.9%	cbioportal
22	DNAH1	Ssm	13	141	9.2%	cbioportal
24	LRRK2	Ssm	13	141	9.2%	cbioportal
26	SYNE1	Ssm	13	141	9.2%	cbioportal
25	SKIC3	Ssm	13	141	9.2%	cbioportal
23	HECTD1	Ssm	13	141	9.2%	cbioportal
27	APOBEC3G	Ssm	12	141	8.5%	cbioportal
29	CDH12	Ssm	12	141	8.5%	cbioportal
28	C7	Ssm	12	141	8.5%	cbioportal
35	PPFIA2	Ssm	12	141	8.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Prostate Adenocarcinoma (MSK, 2025) prad_msk_2025MSK

120 cases with simple somatic mutation data · 120 cases total · 2026-03-04 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	31	120	25.8%	cbioportal
2	BRCA2	Ssm	22	120	18.3%	cbioportal
3	ZFHX3	Ssm	15	116	12.9%	cbioportal
5	KMT2C	Ssm	14	120	11.7%	cbioportal
4	FOXA1	Ssm	14	120	11.7%	cbioportal
6	CDK12	Ssm	12	120	10%	cbioportal
7	ATM	Ssm	10	120	8.3%	cbioportal
9	SPOP	Ssm	9	120	7.5%	cbioportal
8	KMT2D	Ssm	9	120	7.5%	cbioportal
10	SPEN	Ssm	8	120	6.7%	cbioportal
14	MGA	Ssm	7	116	6%	cbioportal
12	AR	Ssm	7	120	5.8%	cbioportal
13	BRCA1	Ssm	7	120	5.8%	cbioportal
11	APC	Ssm	7	120	5.8%	cbioportal
27	TP53BP1	Ssm	5	90	5.6%	cbioportal
19	PTEN	Ssm	6	120	5%	cbioportal
18	PTCH1	Ssm	6	120	5%	cbioportal
20	PTPRD	Ssm	6	120	5%	cbioportal
15	CTNNB1	Ssm	6	120	5%	cbioportal
16	KMT2A	Ssm	6	120	5%	cbioportal
17	NCOR1	Ssm	6	120	5%	cbioportal
150	ARHGAP35	Ssm	1	22	4.5%	cbioportal
184	GNB1	Ssm	1	22	4.5%	cbioportal
31	CARM1	Ssm	4	90	4.4%	cbioportal
35	ERF	Ssm	4	90	4.4%	cbioportal
21	ANKRD11	Ssm	5	116	4.3%	cbioportal
24	NOTCH2	Ssm	5	120	4.2%	cbioportal
23	MED12	Ssm	5	120	4.2%	cbioportal
26	SMARCA4	Ssm	5	120	4.2%	cbioportal
22	KDM6A	Ssm	5	120	4.2%	cbioportal

Data updated 22 days agoSource updated 2026-03-04

Prostate Adenocarcinoma (MSK, Cancer Cell 2010) prad_mskccMSK

182 cases with simple somatic mutation data · 240 cases total · 2026-02-19 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
66	ROS1	Ssm	2	9	22.2%	cbioportal
69	STAT5B	Ssm	2	9	22.2%	cbioportal
103	MUTYH	Ssm	1	9	11.1%	cbioportal
90	IDH2	Ssm	1	9	11.1%	cbioportal
115	RAC3	Ssm	1	9	11.1%	cbioportal
120	STAT1	Ssm	1	9	11.1%	cbioportal
121	TYK2	Ssm	1	9	11.1%	cbioportal
75	BLK	Ssm	1	9	11.1%	cbioportal
111	PTK2	Ssm	1	9	11.1%	cbioportal
110	PRKCZ	Ssm	1	9	11.1%	cbioportal
78	CASP9	Ssm	1	9	11.1%	cbioportal
107	PDGFRB	Ssm	1	9	11.1%	cbioportal
80	EGF	Ssm	1	9	11.1%	cbioportal
81	ELK1	Ssm	1	9	11.1%	cbioportal
106	NSD1	Ssm	1	9	11.1%	cbioportal
114	PTPN6	Ssm	1	9	11.1%	cbioportal
100	MAPK7	Ssm	1	9	11.1%	cbioportal
85	ETS2	Ssm	1	9	11.1%	cbioportal
97	LCK	Ssm	1	9	11.1%	cbioportal
92	JAK2	Ssm	1	9	11.1%	cbioportal
88	FES	Ssm	1	9	11.1%	cbioportal
89	FGF1	Ssm	1	9	11.1%	cbioportal
119	SRC	Ssm	1	9	11.1%	cbioportal
1	PTPRF	Ssm	9	106	8.5%	cbioportal
2	EP300	Ssm	7	106	6.6%	cbioportal
3	AR	Ssm	6	106	5.7%	cbioportal
4	FLT4	Ssm	6	106	5.7%	cbioportal
8	JAK1	Ssm	5	106	4.7%	cbioportal
10	PTK7	Ssm	5	106	4.7%	cbioportal
9	NCOR2	Ssm	5	106	4.7%	cbioportal

Data updated 22 days agoSource updated 2026-02-19

Prostate Adenocarcinoma (MSK, Clin Cancer Res. 2022) prad_pik3r1_msk_2021MSK

1,417 cases with simple somatic mutation data · 1,417 cases total · 2026-01-16 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	411	1,417	29%	cbioportal
2	SPOP	Ssm	200	1,417	14.1%	cbioportal
3	FOXA1	Ssm	197	1,417	13.9%	cbioportal
4	APC	Ssm	124	1,417	8.8%	cbioportal
5	PTEN	Ssm	119	1,417	8.4%	cbioportal
6	KMT2C	Ssm	81	1,417	5.7%	cbioportal
8	ZFHX3	Ssm	75	1,361	5.5%	cbioportal
7	KMT2D	Ssm	76	1,417	5.4%	cbioportal
9	CDK12	Ssm	67	1,417	4.7%	cbioportal
10	CTNNB1	Ssm	61	1,417	4.3%	cbioportal
11	PIK3CA	Ssm	60	1,417	4.2%	cbioportal
12	ATM	Ssm	59	1,417	4.2%	cbioportal
13	BRCA2	Ssm	56	1,417	4%	cbioportal
14	AR	Ssm	53	1,417	3.7%	cbioportal
15	PIK3R1	Ssm	48	1,417	3.4%	cbioportal
16	KDM6A	Ssm	44	1,417	3.1%	cbioportal
17	MGA	Ssm	39	1,361	2.9%	cbioportal
18	RB1	Ssm	36	1,417	2.5%	cbioportal
19	MED12	Ssm	35	1,417	2.5%	cbioportal
20	PTPRD	Ssm	31	1,417	2.2%	cbioportal
21	GRIN2A	Ssm	28	1,417	2%	cbioportal
22	ASXL2	Ssm	27	1,417	1.9%	cbioportal
25	SPEN	Ssm	26	1,417	1.8%	cbioportal
24	JAK1	Ssm	26	1,417	1.8%	cbioportal
23	EPHB1	Ssm	26	1,417	1.8%	cbioportal
26	NCOR1	Ssm	25	1,417	1.8%	cbioportal
27	SF3B1	Ssm	25	1,417	1.8%	cbioportal
28	ARID1A	Ssm	23	1,417	1.6%	cbioportal
31	CDKN1B	Ssm	22	1,417	1.6%	cbioportal
29	ASXL1	Ssm	22	1,417	1.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Prostate Adenocarcinoma (MSK/DFCI, Nature Genetics 2018) prad_p1000MSK/DFCI

1,013 cases with simple somatic mutation data · 1,013 cases total · 2026-01-16 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	189	1,013	18.7%	cbioportal
2	TTN	Ssm	151	1,013	14.9%	cbioportal
3	MUC16	Ssm	113	1,013	11.2%	cbioportal
4	SPOP	Ssm	92	1,013	9.1%	cbioportal
5	SYNE1	Ssm	73	1,013	7.2%	cbioportal
6	FOXA1	Ssm	69	1,013	6.8%	cbioportal
7	KMT2C	Ssm	66	1,013	6.5%	cbioportal
8	KMT2D	Ssm	65	1,013	6.4%	cbioportal
9	CSMD3	Ssm	61	1,013	6%	cbioportal
10	HMCN1	Ssm	55	1,013	5.4%	cbioportal
11	LRP1B	Ssm	54	1,013	5.3%	cbioportal
12	OBSCN	Ssm	53	1,013	5.2%	cbioportal
13	AR	Ssm	48	1,013	4.7%	cbioportal
14	SPTA1	Ssm	47	1,013	4.6%	cbioportal
15	USH2A	Ssm	46	1,013	4.5%	cbioportal
16	RYR1	Ssm	45	1,013	4.4%	cbioportal
18	RYR2	Ssm	44	1,013	4.3%	cbioportal
17	PTEN	Ssm	44	1,013	4.3%	cbioportal
19	ABCA13	Ssm	43	1,013	4.2%	cbioportal
20	FAT3	Ssm	41	1,013	4%	cbioportal
21	ZFHX3	Ssm	41	1,013	4%	cbioportal
22	DCHS2	Ssm	40	1,013	3.9%	cbioportal
23	FAT4	Ssm	39	1,013	3.8%	cbioportal
24	ATM	Ssm	38	1,013	3.8%	cbioportal
25	CACNA1E	Ssm	37	1,013	3.7%	cbioportal
26	CSMD1	Ssm	37	1,013	3.7%	cbioportal
27	DNAH3	Ssm	36	1,013	3.6%	cbioportal
30	XIRP2	Ssm	34	1,013	3.4%	cbioportal
28	MUC4	Ssm	34	1,013	3.4%	cbioportal
29	MYO15A	Ssm	34	1,013	3.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Prostate Adenocarcinoma (MSK, Eur Urol 2020) prad_cdk12_mskcc_2020MSK

1,465 cases with simple somatic mutation data · 1,465 cases total · 2026-01-13 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	391	1,465	26.7%	cbioportal
2	FOXA1	Ssm	179	1,465	12.2%	cbioportal
3	SPOP	Ssm	166	1,465	11.3%	cbioportal
4	PTEN	Ssm	97	1,465	6.6%	cbioportal
5	KMT2C	Ssm	89	1,465	6.1%	cbioportal
6	CDK12	Ssm	88	1,465	6%	cbioportal
7	APC	Ssm	86	1,465	5.9%	cbioportal
8	KMT2D	Ssm	74	1,465	5.1%	cbioportal
9	AR	Ssm	56	1,465	3.8%	cbioportal
13	ZFHX3	Ssm	51	1,337	3.8%	cbioportal
10	CTNNB1	Ssm	55	1,465	3.8%	cbioportal
12	PIK3CA	Ssm	52	1,465	3.5%	cbioportal
11	ATM	Ssm	52	1,465	3.5%	cbioportal
14	BRCA2	Ssm	45	1,465	3.1%	cbioportal
15	KDM6A	Ssm	38	1,465	2.6%	cbioportal
16	GRIN2A	Ssm	36	1,465	2.5%	cbioportal
17	MED12	Ssm	31	1,465	2.1%	cbioportal
18	PTPRD	Ssm	30	1,465	2%	cbioportal
19	SPEN	Ssm	28	1,465	1.9%	cbioportal
20	RB1	Ssm	27	1,465	1.8%	cbioportal
24	MGA	Ssm	24	1,337	1.8%	cbioportal
21	BRAF	Ssm	26	1,465	1.8%	cbioportal
48	ERF	Ssm	14	809	1.7%	cbioportal
22	PIK3R1	Ssm	25	1,465	1.7%	cbioportal
23	ASXL1	Ssm	24	1,465	1.6%	cbioportal
25	NCOR1	Ssm	24	1,465	1.6%	cbioportal
26	ARID1A	Ssm	23	1,465	1.6%	cbioportal
28	KMT2A	Ssm	23	1,465	1.6%	cbioportal
27	JAK1	Ssm	23	1,465	1.6%	cbioportal
29	NF1	Ssm	23	1,465	1.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Prostate Adenocarcinoma Organoids (MSK, Cell 2014) prad_mskcc_cheny1_organoids_2014MSK

12 cases with simple somatic mutation data · 12 cases total · 2026-01-16 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	7	12	58.3%	cbioportal
2	TBP	Ssm	6	12	50%	cbioportal
3	LCE4A	Ssm	4	12	33.3%	cbioportal
8	GIT2	Ssm	3	12	25%	cbioportal
7	FOXA1	Ssm	3	12	25%	cbioportal
6	CRACD	Ssm	3	12	25%	cbioportal
5	ATXN1	Ssm	3	12	25%	cbioportal
4	ABHD15	Ssm	3	12	25%	cbioportal
16	TRIOBP	Ssm	3	12	25%	cbioportal
15	SPATA31D1	Ssm	3	12	25%	cbioportal
14	SPATA3	Ssm	3	12	25%	cbioportal
13	SCN5A	Ssm	3	12	25%	cbioportal
12	NKX6-2	Ssm	3	12	25%	cbioportal
11	KRT72	Ssm	3	12	25%	cbioportal
9	KIRREL1	Ssm	3	12	25%	cbioportal
10	KRT1	Ssm	3	12	25%	cbioportal
22	AGO3	Ssm	2	12	16.7%	cbioportal
21	AEBP1	Ssm	2	12	16.7%	cbioportal
20	ADCY1	Ssm	2	12	16.7%	cbioportal
19	ADAMTS12	Ssm	2	12	16.7%	cbioportal
18	ACTL9	Ssm	2	12	16.7%	cbioportal
17	A1BG	Ssm	2	12	16.7%	cbioportal
77	KRT222	Ssm	2	12	16.7%	cbioportal
29	ASPM	Ssm	2	12	16.7%	cbioportal
28	ART5	Ssm	2	12	16.7%	cbioportal
27	ARID3B	Ssm	2	12	16.7%	cbioportal
26	ARGFX	Ssm	2	12	16.7%	cbioportal
25	APOL4	Ssm	2	12	16.7%	cbioportal
24	ANO1	Ssm	2	12	16.7%	cbioportal
23	ANK2	Ssm	2	12	16.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Prostate Adenocarcinoma (SMMU, Eur Urol 2017) prad_eururol_2017SMMU

65 cases with simple somatic mutation data · 65 cases total · 2026-01-13 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SPOP	Ssm	11	65	16.9%	cbioportal
2	KDM6A	Ssm	5	65	7.7%	cbioportal
3	KMT2D	Ssm	4	65	6.2%	cbioportal
9	TP53	Ssm	3	65	4.6%	cbioportal
4	COL22A1	Ssm	3	65	4.6%	cbioportal
6	PTEN	Ssm	3	65	4.6%	cbioportal
7	RYR1	Ssm	3	65	4.6%	cbioportal
5	MYH2	Ssm	3	65	4.6%	cbioportal
8	SEMA5A	Ssm	3	65	4.6%	cbioportal
28	CTNNB1	Ssm	2	65	3.1%	cbioportal
30	DNAH10	Ssm	2	65	3.1%	cbioportal
10	ADAM2	Ssm	2	65	3.1%	cbioportal
11	ADCY8	Ssm	2	65	3.1%	cbioportal
12	AKR1A1	Ssm	2	65	3.1%	cbioportal
13	ALOX5	Ssm	2	65	3.1%	cbioportal
14	ATM	Ssm	2	65	3.1%	cbioportal
15	BOC	Ssm	2	65	3.1%	cbioportal
16	C2	Ssm	2	65	3.1%	cbioportal
17	CAMTA1	Ssm	2	65	3.1%	cbioportal
18	CDK12	Ssm	2	65	3.1%	cbioportal
19	CFAP69	Ssm	2	65	3.1%	cbioportal
20	CHD6	Ssm	2	65	3.1%	cbioportal
21	CLCNKA	Ssm	2	65	3.1%	cbioportal
22	COL16A1	Ssm	2	65	3.1%	cbioportal
23	COL4A1	Ssm	2	65	3.1%	cbioportal
24	COL4A2	Ssm	2	65	3.1%	cbioportal
25	CPOX	Ssm	2	65	3.1%	cbioportal
26	CSF1R	Ssm	2	65	3.1%	cbioportal
27	CSMD1	Ssm	2	65	3.1%	cbioportal
29	CUL3	Ssm	2	65	3.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Prostate Adenocarcinoma (TCGA, Cell 2015) prad_tcga_pubTCGA

333 cases with simple somatic mutation data · 333 cases total · 2026-01-16 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
2	TTN	Ssm	37	333	11.1%	cbioportal
1	SPOP	Ssm	37	333	11.1%	cbioportal
3	TP53	Ssm	23	333	6.9%	cbioportal
4	MUC16	Ssm	20	333	6%	cbioportal
5	MUC17	Ssm	17	333	5.1%	cbioportal
6	SPTA1	Ssm	15	333	4.5%	cbioportal
8	FOXA1	Ssm	13	333	3.9%	cbioportal
9	KMT2C	Ssm	13	333	3.9%	cbioportal
7	ATM	Ssm	13	333	3.9%	cbioportal
12	LRP1B	Ssm	12	333	3.6%	cbioportal
10	AHNAK2	Ssm	12	333	3.6%	cbioportal
11	CSMD3	Ssm	12	333	3.6%	cbioportal
14	OBSCN	Ssm	11	333	3.3%	cbioportal
13	KMT2D	Ssm	11	333	3.3%	cbioportal
16	FAT3	Ssm	10	333	3%	cbioportal
18	RP1	Ssm	10	333	3%	cbioportal
15	AHNAK	Ssm	10	333	3%	cbioportal
17	HMCN1	Ssm	10	333	3%	cbioportal
20	DCHS2	Ssm	9	333	2.7%	cbioportal
19	BRCA2	Ssm	9	333	2.7%	cbioportal
21	FLG2	Ssm	9	333	2.7%	cbioportal
22	PTEN	Ssm	9	333	2.7%	cbioportal
23	ADGRB3	Ssm	8	333	2.4%	cbioportal
30	PCDH18	Ssm	8	333	2.4%	cbioportal
25	BRAF	Ssm	8	333	2.4%	cbioportal
24	ADGRV1	Ssm	8	333	2.4%	cbioportal
27	DNAH9	Ssm	8	333	2.4%	cbioportal
26	CTNNB1	Ssm	8	333	2.4%	cbioportal
29	MACF1	Ssm	8	333	2.4%	cbioportal
28	FLG	Ssm	8	333	2.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Prostate Adenocarcinoma (TCGA, Firehose Legacy) prad_tcgaTCGA

499 cases with simple somatic mutation data · 501 cases total · 2026-01-16 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	FRG1BP	Ssm	97	499	19.4%	cbioportal
2	TTN	Ssm	63	499	12.6%	cbioportal
3	TP53	Ssm	61	499	12.2%	cbioportal
4	SPOP	Ssm	57	499	11.4%	cbioportal
5	MUC16	Ssm	38	499	7.6%	cbioportal
6	MUC17	Ssm	33	499	6.6%	cbioportal
7	KMT2C	Ssm	30	499	6%	cbioportal
8	KMT2D	Ssm	29	499	5.8%	cbioportal
9	FOXA1	Ssm	28	499	5.6%	cbioportal
10	NBPF1	Ssm	27	499	5.4%	cbioportal
11	SYNE1	Ssm	27	499	5.4%	cbioportal
12	SPTA1	Ssm	26	499	5.2%	cbioportal
13	KRTAP4-11	Ssm	24	499	4.8%	cbioportal
14	LRP1B	Ssm	24	499	4.8%	cbioportal
15	NBPF10	Ssm	23	499	4.6%	cbioportal
18	ZAN	Ssm	22	499	4.4%	cbioportal
16	ATM	Ssm	22	499	4.4%	cbioportal
17	CSMD3	Ssm	22	499	4.4%	cbioportal
20	MUC4	Ssm	21	499	4.2%	cbioportal
19	CHEK2	Ssm	21	499	4.2%	cbioportal
23	RYR1	Ssm	19	499	3.8%	cbioportal
21	FAT3	Ssm	19	499	3.8%	cbioportal
22	HMCN1	Ssm	19	499	3.8%	cbioportal
26	RGPD8	Ssm	18	499	3.6%	cbioportal
24	CACNA1E	Ssm	18	499	3.6%	cbioportal
25	OBSCN	Ssm	18	499	3.6%	cbioportal
27	USH2A	Ssm	18	499	3.6%	cbioportal
28	MACF1	Ssm	17	499	3.4%	cbioportal
30	RYR2	Ssm	17	499	3.4%	cbioportal
29	PTEN	Ssm	17	499	3.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Prostate Adenocarcinoma (TCGA GDC, 2025) prad_tcga_gdcTCGA GDC

491 cases with simple somatic mutation data · 501 cases total · 2026-01-13 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	55	491	11.2%	cbioportal
2	SPOP	Ssm	54	491	11%	cbioportal
3	TTN	Ssm	47	491	9.6%	cbioportal
4	FOXA1	Ssm	29	491	5.9%	cbioportal
5	KMT2D	Ssm	28	491	5.7%	cbioportal
6	MUC16	Ssm	26	491	5.3%	cbioportal
7	SYNE1	Ssm	22	491	4.5%	cbioportal
8	KMT2C	Ssm	21	491	4.3%	cbioportal
9	LRP1B	Ssm	20	491	4.1%	cbioportal
10	SPTA1	Ssm	20	491	4.1%	cbioportal
11	ATM	Ssm	18	491	3.7%	cbioportal
12	CSMD3	Ssm	17	491	3.5%	cbioportal
13	RYR2	Ssm	17	491	3.5%	cbioportal
14	PTEN	Ssm	16	491	3.3%	cbioportal
15	KDM6A	Ssm	15	491	3.1%	cbioportal
16	CACNA1E	Ssm	14	491	2.9%	cbioportal
17	HMCN1	Ssm	14	491	2.9%	cbioportal
18	MUC17	Ssm	14	491	2.9%	cbioportal
19	RP1	Ssm	13	491	2.6%	cbioportal
20	USH2A	Ssm	13	491	2.6%	cbioportal
21	FAT3	Ssm	12	491	2.4%	cbioportal
22	MYO15A	Ssm	12	491	2.4%	cbioportal
23	RYR1	Ssm	12	491	2.4%	cbioportal
29	OBSCN	Ssm	11	491	2.2%	cbioportal
24	ABCA13	Ssm	11	491	2.2%	cbioportal
25	ADGRB3	Ssm	11	491	2.2%	cbioportal
26	APC	Ssm	11	491	2.2%	cbioportal
27	CNTNAP5	Ssm	11	491	2.2%	cbioportal
28	MACF1	Ssm	11	491	2.2%	cbioportal
30	ZMYM3	Ssm	11	491	2.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Prostate Adenocarcinoma (TCGA, PanCancer Atlas) prad_tcga_pan_can_atlas_2018TCGA

494 cases with simple somatic mutation data · 494 cases total · 2026-06-04 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	57	494	11.5%	cbioportal
2	SPOP	Ssm	55	494	11.1%	cbioportal
3	TTN	Ssm	54	494	10.9%	cbioportal
4	MUC16	Ssm	31	494	6.3%	cbioportal
6	KMT2D	Ssm	28	494	5.7%	cbioportal
5	FOXA1	Ssm	28	494	5.7%	cbioportal
7	KMT2C	Ssm	25	494	5.1%	cbioportal
8	SPTA1	Ssm	23	494	4.7%	cbioportal
9	SYNE1	Ssm	23	494	4.7%	cbioportal
10	LRP1B	Ssm	22	494	4.5%	cbioportal
11	ATM	Ssm	20	494	4%	cbioportal
12	CSMD3	Ssm	19	494	3.8%	cbioportal
15	RYR2	Ssm	18	494	3.6%	cbioportal
14	PTEN	Ssm	18	494	3.6%	cbioportal
13	FAT3	Ssm	18	494	3.6%	cbioportal
16	HMCN1	Ssm	16	494	3.2%	cbioportal
17	OBSCN	Ssm	16	494	3.2%	cbioportal
18	CACNA1E	Ssm	15	494	3%	cbioportal
19	COL11A1	Ssm	15	494	3%	cbioportal
20	MUC17	Ssm	15	494	3%	cbioportal
21	RYR1	Ssm	15	494	3%	cbioportal
22	USH2A	Ssm	15	494	3%	cbioportal
23	MACF1	Ssm	14	494	2.8%	cbioportal
24	MYO15A	Ssm	14	494	2.8%	cbioportal
26	ZFHX3	Ssm	13	494	2.6%	cbioportal
25	RP1	Ssm	13	494	2.6%	cbioportal
28	CSMD1	Ssm	12	494	2.4%	cbioportal
27	ABCA13	Ssm	12	494	2.4%	cbioportal
30	DNAH17	Ssm	12	494	2.4%	cbioportal
29	DCHS2	Ssm	12	494	2.4%	cbioportal

Data updated 22 days agoSource updated 2026-06-04

Prostate Cancer-IDH Driver Mutant Cohort (MSK, 2024) prad_idhmut_msk_2025MSK

99 cases with simple somatic mutation data · 99 cases total · 2026-08-20 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	IDH1	Ssm	29	99	29.3%	cbioportal
2	TP53	Ssm	17	99	17.2%	cbioportal
3	FOXA1	Ssm	12	99	12.1%	cbioportal
4	SPOP	Ssm	12	99	12.1%	cbioportal
6	CTNNB1	Ssm	6	99	6.1%	cbioportal
5	BRCA2	Ssm	6	99	6.1%	cbioportal
7	PIK3CA	Ssm	6	99	6.1%	cbioportal
9	KMT2D	Ssm	5	99	5.1%	cbioportal
8	ATM	Ssm	5	99	5.1%	cbioportal
13	PTEN	Ssm	4	99	4%	cbioportal
10	APC	Ssm	4	99	4%	cbioportal
12	IDH2	Ssm	4	99	4%	cbioportal
11	CDK12	Ssm	4	99	4%	cbioportal
19	MGA	Ssm	3	96	3.1%	cbioportal
22	ZFHX3	Ssm	3	96	3.1%	cbioportal
16	JAK1	Ssm	3	99	3%	cbioportal
20	PTPRD	Ssm	3	99	3%	cbioportal
17	KDM6A	Ssm	3	99	3%	cbioportal
21	TSC2	Ssm	3	99	3%	cbioportal
15	DNMT3B	Ssm	3	99	3%	cbioportal
14	BCOR	Ssm	3	99	3%	cbioportal
18	KMT2A	Ssm	3	99	3%	cbioportal
40	NSD2	Ssm	2	89	2.2%	cbioportal
51	ACVR1B	Ssm	1	45	2.2%	cbioportal
124	MLH3	Ssm	1	45	2.2%	cbioportal
119	MAP3K7	Ssm	1	45	2.2%	cbioportal
117	LRP1B	Ssm	1	45	2.2%	cbioportal
93	FANCL	Ssm	1	45	2.2%	cbioportal
43	POLD1	Ssm	2	96	2.1%	cbioportal
31	FBXW7	Ssm	2	99	2%	cbioportal

Data updated 22 days agoSource updated 2026-08-20

Prostate Cancer (MSK, JCO Precis Oncol 2017) prad_mskcc_2017MSK

504 cases with simple somatic mutation data · 504 cases total · 2026-01-13 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	166	504	32.9%	cbioportal
2	FOXA1	Ssm	58	504	11.5%	cbioportal
3	SPOP	Ssm	47	504	9.3%	cbioportal
4	APC	Ssm	40	504	7.9%	cbioportal
5	KMT2C	Ssm	34	504	6.7%	cbioportal
6	PTEN	Ssm	28	504	5.6%	cbioportal
7	CDK12	Ssm	27	504	5.4%	cbioportal
8	AR	Ssm	25	504	5%	cbioportal
9	KMT2D	Ssm	25	504	5%	cbioportal
10	BRCA2	Ssm	24	504	4.8%	cbioportal
11	SPEN	Ssm	21	504	4.2%	cbioportal
12	GRIN2A	Ssm	19	504	3.8%	cbioportal
13	ATM	Ssm	18	504	3.6%	cbioportal
14	CTNNB1	Ssm	17	504	3.4%	cbioportal
15	PIK3CA	Ssm	17	504	3.4%	cbioportal
16	JAK1	Ssm	15	504	3%	cbioportal
30	ZFHX3	Ssm	10	345	2.9%	cbioportal
27	MGA	Ssm	10	345	2.9%	cbioportal
17	FAT1	Ssm	14	504	2.8%	cbioportal
18	RB1	Ssm	14	504	2.8%	cbioportal
21	NCOR1	Ssm	12	504	2.4%	cbioportal
19	KMT2A	Ssm	12	504	2.4%	cbioportal
20	MED12	Ssm	12	504	2.4%	cbioportal
25	PTPRS	Ssm	11	504	2.2%	cbioportal
24	NOTCH1	Ssm	11	504	2.2%	cbioportal
23	KDM6A	Ssm	11	504	2.2%	cbioportal
22	ASXL1	Ssm	11	504	2.2%	cbioportal
29	PIK3R1	Ssm	10	504	2%	cbioportal
26	BRAF	Ssm	10	504	2%	cbioportal
28	NSD1	Ssm	10	504	2%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Prostate Cancer (MSK, Science 2022) prad_organoids_msk_2022MSK

47 cases with simple somatic mutation data · 47 cases total · 2026-01-16 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	32	47	68.1%	cbioportal
5	MUC16	Ssm	7	24	29.2%	cbioportal
7	AEBP1	Ssm	6	24	25%	cbioportal
10	TTN	Ssm	6	24	25%	cbioportal
26	TRIOBP	Ssm	5	24	20.8%	cbioportal
16	DNAH2	Ssm	5	24	20.8%	cbioportal
14	CDH23	Ssm	5	24	20.8%	cbioportal
11	ABHD15	Ssm	5	24	20.8%	cbioportal
20	MUC5B	Ssm	5	24	20.8%	cbioportal
18	LRP1B	Ssm	5	24	20.8%	cbioportal
17	HERC1	Ssm	5	24	20.8%	cbioportal
19	MACF1	Ssm	5	24	20.8%	cbioportal
21	OBSCN	Ssm	5	24	20.8%	cbioportal
2	FOXA1	Ssm	8	47	17%	cbioportal
66	RNF213	Ssm	4	24	16.7%	cbioportal
29	ANK2	Ssm	4	24	16.7%	cbioportal
28	AHNAK	Ssm	4	24	16.7%	cbioportal
68	RYR1	Ssm	4	24	16.7%	cbioportal
69	RYR2	Ssm	4	24	16.7%	cbioportal
70	RYR3	Ssm	4	24	16.7%	cbioportal
71	SPATA31D1	Ssm	4	24	16.7%	cbioportal
51	MCF2L2	Ssm	4	24	16.7%	cbioportal
50	LAMA3	Ssm	4	24	16.7%	cbioportal
49	KCNQ5	Ssm	4	24	16.7%	cbioportal
48	ITPRID1	Ssm	4	24	16.7%	cbioportal
47	ITGA10	Ssm	4	24	16.7%	cbioportal
74	SYNE3	Ssm	4	24	16.7%	cbioportal
75	TRIM67	Ssm	4	24	16.7%	cbioportal
53	MYO10	Ssm	4	24	16.7%	cbioportal
52	MUC6	Ssm	4	24	16.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Proteogenomic landscape of breast cancer (CPTAC, Cell 2020) brca_cptac_2020CPTAC

122 cases with simple somatic mutation data · 122 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	51	122	41.8%	cbioportal
2	PIK3CA	Ssm	40	122	32.8%	cbioportal
3	TTN	Ssm	33	122	27%	cbioportal
4	MUC16	Ssm	15	122	12.3%	cbioportal
5	ABCA13	Ssm	13	122	10.7%	cbioportal
8	OBSCN	Ssm	13	122	10.7%	cbioportal
7	HMCN1	Ssm	13	122	10.7%	cbioportal
6	AHNAK	Ssm	13	122	10.7%	cbioportal
9	FLG	Ssm	12	122	9.8%	cbioportal
11	MAP3K1	Ssm	11	122	9%	cbioportal
10	HERC1	Ssm	11	122	9%	cbioportal
12	RYR1	Ssm	11	122	9%	cbioportal
15	XIRP2	Ssm	10	122	8.2%	cbioportal
14	MUC5B	Ssm	10	122	8.2%	cbioportal
13	KMT2C	Ssm	10	122	8.2%	cbioportal
17	AHNAK2	Ssm	9	122	7.4%	cbioportal
25	PTEN	Ssm	9	122	7.4%	cbioportal
26	RYR2	Ssm	9	122	7.4%	cbioportal
27	SPTA1	Ssm	9	122	7.4%	cbioportal
28	TENM4	Ssm	9	122	7.4%	cbioportal
29	ZFHX4	Ssm	9	122	7.4%	cbioportal
23	NEB	Ssm	9	122	7.4%	cbioportal
22	FSIP2	Ssm	9	122	7.4%	cbioportal
21	DNAH9	Ssm	9	122	7.4%	cbioportal
20	DNAH11	Ssm	9	122	7.4%	cbioportal
19	CDH1	Ssm	9	122	7.4%	cbioportal
18	BLTP1	Ssm	9	122	7.4%	cbioportal
16	ADGRV1	Ssm	9	122	7.4%	cbioportal
24	PCLO	Ssm	9	122	7.4%	cbioportal
30	ADGRB1	Ssm	8	122	6.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Race Differences in Prostate Cancer (MSK, 2021) prad_msk_stopsack_2021MSK

2,069 cases with simple somatic mutation data · 2,069 cases total · 2026-01-13 · mapped to Prostate Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	551	2,069	26.6%	cbioportal
2	FOXA1	Ssm	273	2,069	13.2%	cbioportal
3	SPOP	Ssm	260	2,069	12.6%	cbioportal
4	PTEN	Ssm	155	2,069	7.5%	cbioportal
5	KMT2C	Ssm	140	2,069	6.8%	cbioportal
6	APC	Ssm	138	2,069	6.7%	cbioportal
7	KMT2D	Ssm	133	2,069	6.4%	cbioportal
9	ZFHX3	Ssm	110	1,924	5.7%	cbioportal
8	CDK12	Ssm	118	2,069	5.7%	cbioportal
10	PIK3CA	Ssm	92	2,069	4.4%	cbioportal
11	ATM	Ssm	86	2,069	4.2%	cbioportal
12	AR	Ssm	80	2,069	3.9%	cbioportal
13	CTNNB1	Ssm	78	2,069	3.8%	cbioportal
14	BRCA2	Ssm	74	2,069	3.6%	cbioportal
15	SPEN	Ssm	70	2,069	3.4%	cbioportal
27	ERF	Ssm	47	1,402	3.4%	cbioportal
16	KDM6A	Ssm	69	2,069	3.3%	cbioportal
20	MGA	Ssm	61	1,924	3.2%	cbioportal
17	JAK1	Ssm	64	2,069	3.1%	cbioportal
18	RB1	Ssm	63	2,069	3%	cbioportal
19	GRIN2A	Ssm	61	2,069	2.9%	cbioportal
21	FAT1	Ssm	56	2,069	2.7%	cbioportal
23	MED12	Ssm	52	2,069	2.5%	cbioportal
22	KMT2A	Ssm	52	2,069	2.5%	cbioportal
24	ASXL1	Ssm	50	2,069	2.4%	cbioportal
25	NCOR1	Ssm	50	2,069	2.4%	cbioportal
26	PTPRD	Ssm	49	2,069	2.4%	cbioportal
44	KMT2B	Ssm	32	1,402	2.3%	cbioportal
28	ARID1A	Ssm	43	2,069	2.1%	cbioportal
29	PIK3R1	Ssm	41	2,069	2%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Rectal Adenocarcinoma (TCGA GDC, 2025) read_tcga_gdcTCGA GDC

155 cases with simple somatic mutation data · 171 cases total · 2026-01-13 · mapped to Rectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	APC	Ssm	126	155	81.3%	cbioportal
2	TP53	Ssm	110	155	71%	cbioportal
3	KRAS	Ssm	63	155	40.6%	cbioportal
4	TTN	Ssm	61	155	39.4%	cbioportal
5	SYNE1	Ssm	35	155	22.6%	cbioportal
6	MUC16	Ssm	28	155	18.1%	cbioportal
7	FBXW7	Ssm	26	155	16.8%	cbioportal
9	RYR2	Ssm	25	155	16.1%	cbioportal
8	FAT4	Ssm	25	155	16.1%	cbioportal
10	LRP1B	Ssm	24	155	15.5%	cbioportal
11	CSMD1	Ssm	23	155	14.8%	cbioportal
12	SMAD4	Ssm	23	155	14.8%	cbioportal
13	PIK3CA	Ssm	22	155	14.2%	cbioportal
14	DNAH11	Ssm	19	155	12.3%	cbioportal
15	FAT3	Ssm	19	155	12.3%	cbioportal
16	SACS	Ssm	18	155	11.6%	cbioportal
19	ZFHX4	Ssm	17	155	11%	cbioportal
17	CSMD3	Ssm	17	155	11%	cbioportal
18	OBSCN	Ssm	17	155	11%	cbioportal
20	FLG	Ssm	16	155	10.3%	cbioportal
21	HYDIN	Ssm	16	155	10.3%	cbioportal
28	SPTA1	Ssm	15	155	9.7%	cbioportal
24	DNAH7	Ssm	15	155	9.7%	cbioportal
23	ATM	Ssm	15	155	9.7%	cbioportal
22	ABCA13	Ssm	15	155	9.7%	cbioportal
29	TCF7L2	Ssm	15	155	9.7%	cbioportal
27	RYR1	Ssm	15	155	9.7%	cbioportal
26	NRAS	Ssm	15	155	9.7%	cbioportal
25	NBEA	Ssm	15	155	9.7%	cbioportal
30	AHNAK2	Ssm	14	155	9%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Rectal Cancer (MSK,Nature Medicine 2019) rectal_msk_2019MSK

339 cases with simple somatic mutation data · 339 cases total · 2026-01-16 · mapped to Colorectal Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	268	339	79.1%	cbioportal
2	APC	Ssm	257	339	75.8%	cbioportal
3	KRAS	Ssm	152	339	44.8%	cbioportal
4	FBXW7	Ssm	66	339	19.5%	cbioportal
5	SMAD4	Ssm	47	339	13.9%	cbioportal
130	CYLD	Ssm	5	49	10.2%	cbioportal
6	PIK3CA	Ssm	33	339	9.7%	cbioportal
8	TCF7L2	Ssm	28	300	9.3%	cbioportal
7	ARID1A	Ssm	28	339	8.3%	cbioportal
196	SESN3	Ssm	4	49	8.2%	cbioportal
192	PREX2	Ssm	4	49	8.2%	cbioportal
181	KMT2B	Ssm	4	49	8.2%	cbioportal
200	UPF1	Ssm	4	49	8.2%	cbioportal
199	TP53BP1	Ssm	4	49	8.2%	cbioportal
9	SOX9	Ssm	21	339	6.2%	cbioportal
10	ERBB3	Ssm	20	339	5.9%	cbioportal
11	NOTCH3	Ssm	20	339	5.9%	cbioportal
19	MGA	Ssm	17	300	5.7%	cbioportal
12	AMER1	Ssm	19	339	5.6%	cbioportal
14	KMT2C	Ssm	19	339	5.6%	cbioportal
13	ATM	Ssm	19	339	5.6%	cbioportal
15	PTPRS	Ssm	19	339	5.6%	cbioportal
16	BRAF	Ssm	18	339	5.3%	cbioportal
17	PTPRT	Ssm	18	339	5.3%	cbioportal
18	AR	Ssm	17	339	5%	cbioportal
22	ANKRD11	Ssm	15	300	5%	cbioportal
20	EPHA5	Ssm	16	339	4.7%	cbioportal
21	KMT2A	Ssm	16	339	4.7%	cbioportal
25	SPEN	Ssm	15	339	4.4%	cbioportal
24	NRAS	Ssm	15	339	4.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Rectum Adenocarcinoma TCGA-READTCGA

171 cases with simple somatic mutation data · 172 cases total · Data Release 46.0 · mapped to Rectal Adenocarcinoma ALIAS

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTPRT	Ssm	154	171	90.1%	gdc
3	TOP1	Ssm	152	171	88.9%	gdc
2	TAF4	Ssm	152	171	88.9%	gdc
6	EPB41L1	Ssm	151	171	88.3%	gdc
4	CD40	Ssm	151	171	88.3%	gdc
11	RALGAPB	Ssm	151	171	88.3%	gdc
10	DNMT3B	Ssm	151	171	88.3%	gdc
9	STAU1	Ssm	151	171	88.3%	gdc
8	CHD6	Ssm	151	171	88.3%	gdc
7	ZNF831	Ssm	151	171	88.3%	gdc
5	KCNB1	Ssm	151	171	88.3%	gdc
30	GNAS	Ssm	150	171	87.7%	gdc
24	KIAA1755	Ssm	150	171	87.7%	gdc
22	CEP250	Ssm	150	171	87.7%	gdc
21	SOGA1	Ssm	150	171	87.7%	gdc
20	RIMS4	Ssm	150	171	87.7%	gdc
19	SLC12A5	Ssm	150	171	87.7%	gdc
18	PPP1R16B	Ssm	150	171	87.7%	gdc
17	FAM217B	Ssm	150	171	87.7%	gdc
16	JPH2	Ssm	150	171	87.7%	gdc
15	NCOA3	Ssm	150	171	87.7%	gdc
14	MMP9	Ssm	150	171	87.7%	gdc
23	HNF4A	Ssm	150	171	87.7%	gdc
29	ARFGEF2	Ssm	150	171	87.7%	gdc
28	ZNFX1	Ssm	150	171	87.7%	gdc
27	PREX1	Ssm	150	171	87.7%	gdc
25	RBPJL	Ssm	150	171	87.7%	gdc
26	ZNF334	Ssm	150	171	87.7%	gdc
13	PCK1	Ssm	150	171	87.7%	gdc
12	LAMA5	Ssm	150	171	87.7%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Refractory Cancers (RC) - Peripheral T-Cell Lymphoma (PTCL) RC-PTCLRC

58 cases with simple somatic mutation data · 58 cases total · Data Release 46.0 · mapped to Peripheral T-Cell Lymphoma, Not Otherwise Specified ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PRSS1	Ssm	42	58	72.4%	gdc
2	PRSS2	Ssm	41	58	70.7%	gdc
3	MTRNR2L6	Ssm	38	58	65.5%	gdc
5	OR11H12	Ssm	20	58	34.5%	gdc
4	POTEM	Ssm	20	58	34.5%	gdc
7	C8orf33	Ssm	18	58	31%	gdc
6	TPTE	Ssm	18	58	31%	gdc
13	GIMAP6	Ssm	17	58	29.3%	gdc
12	POTEG	Ssm	17	58	29.3%	gdc
11	GIMAP4	Ssm	17	58	29.3%	gdc
10	GIMAP7	Ssm	17	58	29.3%	gdc
9	ACTR3C	Ssm	17	58	29.3%	gdc
8	GIMAP2	Ssm	17	58	29.3%	gdc
14	POTEH	Ssm	17	58	29.3%	gdc
19	RARRES2	Ssm	16	58	27.6%	gdc
23	OR4M2	Ssm	16	58	27.6%	gdc
18	SPATA31A5	Ssm	16	58	27.6%	gdc
24	POTEB3	Ssm	16	58	27.6%	gdc
25	AC135068.1	Ssm	16	58	27.6%	gdc
26	GIMAP8	Ssm	16	58	27.6%	gdc
17	AL391987.1	Ssm	16	58	27.6%	gdc
16	CNTNAP3C	Ssm	16	58	27.6%	gdc
15	ZBED6CL	Ssm	16	58	27.6%	gdc
20	AC073111.3	Ssm	16	58	27.6%	gdc
21	OR4N4	Ssm	16	58	27.6%	gdc
22	DPP6	Ssm	16	58	27.6%	gdc
30	REPIN1	Ssm	16	58	27.6%	gdc
29	AC135068.4	Ssm	16	58	27.6%	gdc
28	FAM86B2	Ssm	16	58	27.6%	gdc
27	SPATA31A7	Ssm	16	58	27.6%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Renal Cell Carcinoma (CPTAC GDC, 2025) rcc_cptac_gdcCPTAC GDC

352 cases with simple somatic mutation data · 354 cases total · 2026-01-14 · mapped to Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	237	352	67.3%	cbioportal
2	PBRM1	Ssm	114	352	32.4%	cbioportal
3	BAP1	Ssm	48	352	13.6%	cbioportal
4	TTN	Ssm	44	352	12.5%	cbioportal
5	KDM5C	Ssm	43	352	12.2%	cbioportal
6	SETD2	Ssm	39	352	11.1%	cbioportal
7	CSMD3	Ssm	34	352	9.7%	cbioportal
8	MTOR	Ssm	23	352	6.5%	cbioportal
10	MUC16	Ssm	20	352	5.7%	cbioportal
9	LRP2	Ssm	20	352	5.7%	cbioportal
12	USH2A	Ssm	19	352	5.4%	cbioportal
11	RYR2	Ssm	19	352	5.4%	cbioportal
13	CUBN	Ssm	18	352	5.1%	cbioportal
14	MUC17	Ssm	17	352	4.8%	cbioportal
15	YLPM1	Ssm	17	352	4.8%	cbioportal
19	ZNF292	Ssm	16	352	4.5%	cbioportal
16	HMCN1	Ssm	16	352	4.5%	cbioportal
17	SYNE1	Ssm	16	352	4.5%	cbioportal
18	SYNE2	Ssm	16	352	4.5%	cbioportal
22	MACF1	Ssm	15	352	4.3%	cbioportal
20	DST	Ssm	15	352	4.3%	cbioportal
21	FSIP2	Ssm	15	352	4.3%	cbioportal
23	SI	Ssm	15	352	4.3%	cbioportal
26	DNAH5	Ssm	14	352	4%	cbioportal
24	APOB	Ssm	14	352	4%	cbioportal
25	BIRC6	Ssm	14	352	4%	cbioportal
27	PKD1	Ssm	14	352	4%	cbioportal
29	LRTM3	Ssm	13	352	3.7%	cbioportal
28	GOLGB1	Ssm	13	352	3.7%	cbioportal
30	MAP1A	Ssm	13	352	3.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Renal Cell Carcinoma (IMmotion150 Clinical Trial, Nat Med. 2018) - iAtlas Harmonized rcc_iatlas_immotion150_2018

158 cases with simple somatic mutation data · 263 cases total · 2026-02-11 · mapped to Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	106	158	67.1%	cbioportal
2	PBRM1	Ssm	79	158	50%	cbioportal
3	TTN	Ssm	67	158	42.4%	cbioportal
4	MUC16	Ssm	60	158	38%	cbioportal
5	AHNAK2	Ssm	56	158	35.4%	cbioportal
6	SETD2	Ssm	52	158	32.9%	cbioportal
7	OBSCN	Ssm	51	158	32.3%	cbioportal
8	HSPG2	Ssm	48	158	30.4%	cbioportal
9	KMT2D	Ssm	46	158	29.1%	cbioportal
10	LRP1	Ssm	45	158	28.5%	cbioportal
11	BSN	Ssm	44	158	27.8%	cbioportal
12	MUC5B	Ssm	44	158	27.8%	cbioportal
13	ZNF469	Ssm	41	158	25.9%	cbioportal
14	ZNF594	Ssm	40	158	25.3%	cbioportal
15	COL7A1	Ssm	39	158	24.7%	cbioportal
16	LAMA5	Ssm	39	158	24.7%	cbioportal
20	OTOG	Ssm	38	158	24.1%	cbioportal
21	PLEC	Ssm	38	158	24.1%	cbioportal
19	MUC5AC	Ssm	38	158	24.1%	cbioportal
18	FLNA	Ssm	38	158	24.1%	cbioportal
17	AHNAK	Ssm	38	158	24.1%	cbioportal
24	SYNE1	Ssm	37	158	23.4%	cbioportal
22	DNAH1	Ssm	37	158	23.4%	cbioportal
23	RYR1	Ssm	37	158	23.4%	cbioportal
25	IRF2BPL	Ssm	36	158	22.8%	cbioportal
26	KIF1A	Ssm	36	158	22.8%	cbioportal
27	PLXNB3	Ssm	36	158	22.8%	cbioportal
28	SPEG	Ssm	35	158	22.2%	cbioportal
30	CACNA1H	Ssm	34	158	21.5%	cbioportal
29	ADGRV1	Ssm	34	158	21.5%	cbioportal

Data updated 22 days agoSource updated 2026-02-11

Renal Cell Carcinoma (St. James, Clin Cancer Res 2023) ccrcc_sjuh_2023St. James

943 cases with simple somatic mutation data · 943 cases total · 2026-03-09 · mapped to Clear Cell Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved12 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	642	943	68.1%	cbioportal
2	PBRM1	Ssm	325	943	34.5%	cbioportal
3	SETD2	Ssm	151	943	16%	cbioportal
4	BAP1	Ssm	119	943	12.6%	cbioportal
5	KDM5C	Ssm	67	943	7.1%	cbioportal
6	ATM	Ssm	31	943	3.3%	cbioportal
8	TP53	Ssm	29	943	3.1%	cbioportal
7	DMD	Ssm	29	943	3.1%	cbioportal
9	COL11A1	Ssm	21	943	2.2%	cbioportal
10	TRRAP	Ssm	12	943	1.3%	cbioportal
11	PTK7	Ssm	6	943	0.6%	cbioportal
12	ATP9B	Ssm	5	943	0.5%	cbioportal

Data updated 22 days agoSource updated 2026-03-09

Renal Clear Cell Carcinoma (TCGA GDC, 2025) ccrcc_tcga_gdcTCGA GDC

375 cases with simple somatic mutation data · 537 cases total · 2026-01-13 · mapped to Clear Cell Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	172	375	45.9%	cbioportal
2	PBRM1	Ssm	147	375	39.2%	cbioportal
3	TTN	Ssm	63	375	16.8%	cbioportal
4	SETD2	Ssm	46	375	12.3%	cbioportal
5	BAP1	Ssm	40	375	10.7%	cbioportal
6	MUC16	Ssm	29	375	7.7%	cbioportal
7	MTOR	Ssm	27	375	7.2%	cbioportal
8	KDM5C	Ssm	20	375	5.3%	cbioportal
10	DST	Ssm	19	375	5.1%	cbioportal
9	DNAH9	Ssm	19	375	5.1%	cbioportal
12	CSMD3	Ssm	17	375	4.5%	cbioportal
11	ATM	Ssm	17	375	4.5%	cbioportal
15	KMT2C	Ssm	16	375	4.3%	cbioportal
13	FBN2	Ssm	16	375	4.3%	cbioportal
14	HMCN1	Ssm	16	375	4.3%	cbioportal
16	LRP2	Ssm	16	375	4.3%	cbioportal
17	AHNAK2	Ssm	15	375	4%	cbioportal
21	USH2A	Ssm	14	375	3.7%	cbioportal
19	SPEN	Ssm	14	375	3.7%	cbioportal
20	SYNE1	Ssm	14	375	3.7%	cbioportal
18	ANK3	Ssm	14	375	3.7%	cbioportal
23	MUC17	Ssm	13	375	3.5%	cbioportal
25	PTEN	Ssm	13	375	3.5%	cbioportal
24	PCLO	Ssm	13	375	3.5%	cbioportal
22	DNAH2	Ssm	13	375	3.5%	cbioportal
26	ARID1A	Ssm	12	375	3.2%	cbioportal
29	PKHD1L1	Ssm	12	375	3.2%	cbioportal
28	LRP1B	Ssm	12	375	3.2%	cbioportal
27	FLG	Ssm	12	375	3.2%	cbioportal
30	XIRP2	Ssm	12	375	3.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Renal Clear Cell Carcinoma (UTokyo, Nat Genet 2013) ccrcc_utokyo_2013UTokyo

106 cases with simple somatic mutation data · 106 cases total · 2026-01-05 · mapped to Clear Cell Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	VHL	Ssm	43	106	40.6%	cbioportal
2	PBRM1	Ssm	31	106	29.2%	cbioportal
3	TTN	Ssm	21	106	19.8%	cbioportal
4	MUC16	Ssm	15	106	14.2%	cbioportal
5	SETD2	Ssm	12	106	11.3%	cbioportal
6	BAP1	Ssm	9	106	8.5%	cbioportal
7	CSMD3	Ssm	8	106	7.5%	cbioportal
8	AHNAK2	Ssm	7	106	6.6%	cbioportal
9	FRYL	Ssm	6	106	5.7%	cbioportal
10	HMCN1	Ssm	6	106	5.7%	cbioportal
11	KMT2C	Ssm	6	106	5.7%	cbioportal
12	MTOR	Ssm	6	106	5.7%	cbioportal
13	MUC4	Ssm	6	106	5.7%	cbioportal
14	TET2	Ssm	6	106	5.7%	cbioportal
16	KCNMA1	Ssm	5	106	4.7%	cbioportal
15	ELOC	Ssm	5	106	4.7%	cbioportal
17	KEAP1	Ssm	5	106	4.7%	cbioportal
18	PIK3CA	Ssm	5	106	4.7%	cbioportal
19	PKHD1	Ssm	5	106	4.7%	cbioportal
20	ZNF536	Ssm	5	106	4.7%	cbioportal
25	DNAH11	Ssm	4	106	3.8%	cbioportal
30	IQGAP2	Ssm	4	106	3.8%	cbioportal
29	HYDIN	Ssm	4	106	3.8%	cbioportal
28	GRB7	Ssm	4	106	3.8%	cbioportal
27	EP300	Ssm	4	106	3.8%	cbioportal
26	DNAH3	Ssm	4	106	3.8%	cbioportal
24	CUBN	Ssm	4	106	3.8%	cbioportal
23	CACNA1G	Ssm	4	106	3.8%	cbioportal
22	BCL11A	Ssm	4	106	3.8%	cbioportal
21	ARHGEF28	Ssm	4	106	3.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Renal Non-Clear Cell Carcinoma (Genentech, Nat Genet 2014) nccrcc_genentech_2014Genentech

146 cases with simple somatic mutation data · 146 cases total · 2026-01-08 · mapped to Renal Non-Clear Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	17	146	11.6%	cbioportal
2	TP53	Ssm	11	146	7.5%	cbioportal
3	MET	Ssm	10	146	6.8%	cbioportal
4	MUC4	Ssm	9	146	6.2%	cbioportal
6	PCLO	Ssm	7	146	4.8%	cbioportal
5	MACF1	Ssm	7	146	4.8%	cbioportal
8	LRP2	Ssm	6	146	4.1%	cbioportal
9	SPEN	Ssm	6	146	4.1%	cbioportal
7	ARID1A	Ssm	6	146	4.1%	cbioportal
15	PTEN	Ssm	5	146	3.4%	cbioportal
12	MUC16	Ssm	5	146	3.4%	cbioportal
13	MUC6	Ssm	5	146	3.4%	cbioportal
10	FREM2	Ssm	5	146	3.4%	cbioportal
11	KMT2C	Ssm	5	146	3.4%	cbioportal
17	STARD9	Ssm	5	146	3.4%	cbioportal
16	SETD2	Ssm	5	146	3.4%	cbioportal
14	OBSCN	Ssm	5	146	3.4%	cbioportal
28	DNAH5	Ssm	4	146	2.7%	cbioportal
29	ERCC2	Ssm	4	146	2.7%	cbioportal
25	CACNA1C	Ssm	4	146	2.7%	cbioportal
24	BLTP1	Ssm	4	146	2.7%	cbioportal
23	BIRC6	Ssm	4	146	2.7%	cbioportal
22	ARID1B	Ssm	4	146	2.7%	cbioportal
21	APC	Ssm	4	146	2.7%	cbioportal
20	ANK3	Ssm	4	146	2.7%	cbioportal
30	FAT2	Ssm	4	146	2.7%	cbioportal
19	AHNAK	Ssm	4	146	2.7%	cbioportal
18	ADGRV1	Ssm	4	146	2.7%	cbioportal
27	CUBN	Ssm	4	146	2.7%	cbioportal
26	CEP295	Ssm	4	146	2.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

Retinoblastoma cfDNA (MSK, Cancer Med 2020) rbl_cfdna_msk_2020MSK

14 cases with simple somatic mutation data · 14 cases total · 2026-01-16 · mapped to Retinoblastoma EXACT_IDENTIFIER

cbioportalObserved2 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	RB1	Ssm	14	14	100%	cbioportal
2	MYCN	Ssm	9	14	64.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Retinoblastoma (MSK, Cancers 2021) rbl_mskcc_2020MSK

83 cases with simple somatic mutation data · 83 cases total · 2026-01-16 · mapped to Retinoblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	RB1	Ssm	52	83	62.7%	cbioportal
2	BCOR	Ssm	14	83	16.9%	cbioportal
5	FAT1	Ssm	3	83	3.6%	cbioportal
4	BRD4	Ssm	3	83	3.6%	cbioportal
6	RPTOR	Ssm	3	83	3.6%	cbioportal
7	ZFHX3	Ssm	3	83	3.6%	cbioportal
3	ARID1A	Ssm	3	83	3.6%	cbioportal
13	MSH3	Ssm	2	78	2.6%	cbioportal
19	PREX2	Ssm	2	78	2.6%	cbioportal
20	TERT	Ssm	2	83	2.4%	cbioportal
8	ARID1B	Ssm	2	83	2.4%	cbioportal
17	POLD1	Ssm	2	83	2.4%	cbioportal
16	PIK3CD	Ssm	2	83	2.4%	cbioportal
15	NSD1	Ssm	2	83	2.4%	cbioportal
14	NCOA3	Ssm	2	83	2.4%	cbioportal
12	MAP3K1	Ssm	2	83	2.4%	cbioportal
11	KMT2D	Ssm	2	83	2.4%	cbioportal
10	KMT2C	Ssm	2	83	2.4%	cbioportal
9	HLA-A	Ssm	2	83	2.4%	cbioportal
18	POLE	Ssm	2	83	2.4%	cbioportal
67	RRAGC	Ssm	1	78	1.3%	cbioportal
78	WHR1	Ssm	1	78	1.3%	cbioportal
30	CARM1	Ssm	1	78	1.3%	cbioportal
63	PRKD1	Ssm	1	78	1.3%	cbioportal
66	RAC2	Ssm	1	78	1.3%	cbioportal
25	BABAM1	Ssm	1	78	1.3%	cbioportal
76	TP53BP1	Ssm	1	78	1.3%	cbioportal
68	RTEL1	Ssm	1	78	1.3%	cbioportal
74	TEK	Ssm	1	78	1.3%	cbioportal
54	MGA	Ssm	1	83	1.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Rhabdomyosarcoma (NIH, Cancer Discov 2014) rms_nih_2014NIH

43 cases with simple somatic mutation data · 43 cases total · 2026-01-13 · mapped to Rhabdomyosarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NRAS	Ssm	4	43	9.3%	cbioportal
10	SLC6A17	Ssm	3	43	7%	cbioportal
2	BCOR	Ssm	3	43	7%	cbioportal
9	PIK3CA	Ssm	3	43	7%	cbioportal
3	FBXW7	Ssm	3	43	7%	cbioportal
4	FGFR4	Ssm	3	43	7%	cbioportal
6	NF1	Ssm	3	43	7%	cbioportal
5	KRAS	Ssm	3	43	7%	cbioportal
7	NPHS1	Ssm	3	43	7%	cbioportal
8	OR52N1	Ssm	3	43	7%	cbioportal
32	ZFP37	Ssm	2	43	4.7%	cbioportal
25	PIP5K1A	Ssm	2	43	4.7%	cbioportal
24	PER3	Ssm	2	43	4.7%	cbioportal
23	PDGFRA	Ssm	2	43	4.7%	cbioportal
22	LRP1B	Ssm	2	43	4.7%	cbioportal
21	LGI1	Ssm	2	43	4.7%	cbioportal
20	HRAS	Ssm	2	43	4.7%	cbioportal
19	DYSF	Ssm	2	43	4.7%	cbioportal
31	ZAN	Ssm	2	43	4.7%	cbioportal
17	COL12A1	Ssm	2	43	4.7%	cbioportal
16	CHST5	Ssm	2	43	4.7%	cbioportal
15	CFAP44	Ssm	2	43	4.7%	cbioportal
14	CELSR3	Ssm	2	43	4.7%	cbioportal
13	CDK12	Ssm	2	43	4.7%	cbioportal
12	CACNA1A	Ssm	2	43	4.7%	cbioportal
11	C1GALT1C1	Ssm	2	43	4.7%	cbioportal
18	DGKQ	Ssm	2	43	4.7%	cbioportal
30	TTN	Ssm	2	43	4.7%	cbioportal
29	SNUPN	Ssm	2	43	4.7%	cbioportal
28	SEC14L5	Ssm	2	43	4.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Rhabdomyosarcomas (MSK, NPJ Precis Oncol 2023) soft_tissue_msk_2023MSK

42 cases with simple somatic mutation data · 42 cases total · 2026-01-13 · mapped to Rhabdomyosarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	9	42	21.4%	cbioportal
9	ETAA1	Ssm	2	22	9.1%	cbioportal
2	BCOR	Ssm	3	42	7.1%	cbioportal
3	CTNNB1	Ssm	3	42	7.1%	cbioportal
19	TP53BP1	Ssm	2	41	4.9%	cbioportal
16	PAX5	Ssm	2	42	4.8%	cbioportal
15	NRAS	Ssm	2	42	4.8%	cbioportal
17	SUFU	Ssm	2	42	4.8%	cbioportal
14	NOTCH3	Ssm	2	42	4.8%	cbioportal
13	NOTCH1	Ssm	2	42	4.8%	cbioportal
12	HRAS	Ssm	2	42	4.8%	cbioportal
11	GRIN2A	Ssm	2	42	4.8%	cbioportal
21	YES1	Ssm	2	42	4.8%	cbioportal
20	WT1	Ssm	2	42	4.8%	cbioportal
18	TET2	Ssm	2	42	4.8%	cbioportal
5	ARID5B	Ssm	2	42	4.8%	cbioportal
10	FGF3	Ssm	2	42	4.8%	cbioportal
8	DICER1	Ssm	2	42	4.8%	cbioportal
7	DDR2	Ssm	2	42	4.8%	cbioportal
6	ATM	Ssm	2	42	4.8%	cbioportal
4	APC	Ssm	2	42	4.8%	cbioportal
42	SMARCA2	Ssm	1	22	4.5%	cbioportal
34	KMT2B	Ssm	1	41	2.4%	cbioportal
43	SOS1	Ssm	1	41	2.4%	cbioportal
25	BRD4	Ssm	1	42	2.4%	cbioportal
26	CXCR4	Ssm	1	42	2.4%	cbioportal
24	ASXL1	Ssm	1	42	2.4%	cbioportal
23	ARID1A	Ssm	1	42	2.4%	cbioportal
22	ALK	Ssm	1	42	2.4%	cbioportal
46	XIAP	Ssm	1	42	2.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Sarcoma TCGA-SARCTCGA

261 cases with simple somatic mutation data · 261 cases total · Data Release 46.0 · mapped to Sarcoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	167	261	64%	gdc
2	RB1	Ssm	165	261	63.2%	gdc
5	LPAR6	Ssm	154	261	59%	gdc
4	RCBTB2	Ssm	154	261	59%	gdc
3	ITM2B	Ssm	154	261	59%	gdc
6	CAB39L	Ssm	153	261	58.6%	gdc
10	MLNR	Ssm	152	261	58.2%	gdc
11	CDADC1	Ssm	152	261	58.2%	gdc
9	SETDB2	Ssm	152	261	58.2%	gdc
8	FNDC3A	Ssm	152	261	58.2%	gdc
7	CYSLTR2	Ssm	152	261	58.2%	gdc
16	MED4	Ssm	151	261	57.9%	gdc
12	RCBTB1	Ssm	151	261	57.9%	gdc
13	PHF11	Ssm	151	261	57.9%	gdc
14	SUCLA2	Ssm	151	261	57.9%	gdc
15	NUDT15	Ssm	151	261	57.9%	gdc
17	ARL11	Ssm	150	261	57.5%	gdc
18	KCNRG	Ssm	150	261	57.5%	gdc
21	EBPL	Ssm	149	261	57.1%	gdc
19	KPNA3	Ssm	149	261	57.1%	gdc
20	TRIM13	Ssm	149	261	57.1%	gdc
22	SPRYD7	Ssm	148	261	56.7%	gdc
23	HTR2A	Ssm	147	261	56.3%	gdc
24	DLEU7	Ssm	146	261	55.9%	gdc
25	LRCH1	Ssm	146	261	55.9%	gdc
26	ESD	Ssm	146	261	55.9%	gdc
27	RUBCNL	Ssm	145	261	55.6%	gdc
28	SIAH3	Ssm	145	261	55.6%	gdc
29	LCP1	Ssm	145	261	55.6%	gdc
30	CPB2	Ssm	144	261	55.2%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Skin Cutaneous Melanoma TCGA-SKCMTCGA

470 cases with simple somatic mutation data · 470 cases total · Data Release 46.0 · mapped to Cutaneous Melanoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	388	470	82.6%	gdc
2	MUC16	Ssm	377	470	80.2%	gdc
3	ANK3	Ssm	375	470	79.8%	gdc
4	CDKN2A	Ssm	361	470	76.8%	gdc
5	PTPRD	Ssm	360	470	76.6%	gdc
6	CDKN2B	Ssm	356	470	75.7%	gdc
7	AL359922.1	Ssm	354	470	75.3%	gdc
8	FREM1	Ssm	352	470	74.9%	gdc
9	DMBT1	Ssm	352	470	74.9%	gdc
10	MTAP	Ssm	351	470	74.7%	gdc
11	DNAH5	Ssm	350	470	74.5%	gdc
12	DMRTA1	Ssm	346	470	73.6%	gdc
13	TAF1L	Ssm	342	470	72.8%	gdc
14	PCLO	Ssm	342	470	72.8%	gdc
17	SYNE1	Ssm	341	470	72.6%	gdc
15	IFNE	Ssm	341	470	72.6%	gdc
16	IFNA16	Ssm	341	470	72.6%	gdc
18	ADAMTSL1	Ssm	341	470	72.6%	gdc
19	IFNA7	Ssm	340	470	72.3%	gdc
20	PCDH15	Ssm	339	470	72.1%	gdc
23	IFNA14	Ssm	339	470	72.1%	gdc
22	MGAM	Ssm	339	470	72.1%	gdc
21	IFNA4	Ssm	339	470	72.1%	gdc
26	FOCAD	Ssm	338	470	71.9%	gdc
25	IFNA6	Ssm	338	470	71.9%	gdc
24	ELAVL2	Ssm	338	470	71.9%	gdc
27	IFNA21	Ssm	338	470	71.9%	gdc
28	BNC2	Ssm	338	470	71.9%	gdc
29	SH3GL2	Ssm	337	470	71.7%	gdc
30	IFNW1	Ssm	336	470	71.5%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Skin Cutaneous Melanoma(Broad, Cancer Discov 2014) skcm_broad_brafresist_2012Broad

78 cases with simple somatic mutation data · 78 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	67	78	85.9%	cbioportal
2	TTN	Ssm	60	78	76.9%	cbioportal
3	MUC16	Ssm	53	78	67.9%	cbioportal
4	PRB2	Ssm	38	78	48.7%	cbioportal
6	PRG4	Ssm	31	78	39.7%	cbioportal
5	CRIPAK	Ssm	31	78	39.7%	cbioportal
9	TCHH	Ssm	29	78	37.2%	cbioportal
10	TRIOBP	Ssm	29	78	37.2%	cbioportal
8	MUC17	Ssm	29	78	37.2%	cbioportal
7	ANKRD30A	Ssm	29	78	37.2%	cbioportal
12	PCLO	Ssm	27	78	34.6%	cbioportal
13	ZNF208	Ssm	27	78	34.6%	cbioportal
11	DNAH7	Ssm	27	78	34.6%	cbioportal
19	LRP2	Ssm	26	78	33.3%	cbioportal
14	ADGRV1	Ssm	26	78	33.3%	cbioportal
15	CSMD1	Ssm	26	78	33.3%	cbioportal
16	DCC	Ssm	26	78	33.3%	cbioportal
17	FAT4	Ssm	26	78	33.3%	cbioportal
18	LRP1B	Ssm	26	78	33.3%	cbioportal
20	MAGEC1	Ssm	26	78	33.3%	cbioportal
21	NEB	Ssm	26	78	33.3%	cbioportal
22	RP1	Ssm	26	78	33.3%	cbioportal
23	ZAN	Ssm	26	78	33.3%	cbioportal
25	FRG1BP	Ssm	25	78	32.1%	cbioportal
24	DNAH5	Ssm	25	78	32.1%	cbioportal
26	MUC4	Ssm	25	78	32.1%	cbioportal
27	CACNA1E	Ssm	24	78	30.8%	cbioportal
28	RYR1	Ssm	24	78	30.8%	cbioportal
29	COL11A1	Ssm	23	78	29.5%	cbioportal
30	DSCAM	Ssm	23	78	29.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Skin Cutaneous Melanoma (Broad, Cell 2012) skcm_broadBroad

121 cases with simple somatic mutation data · 121 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	98	121	81%	cbioportal
2	MUC16	Ssm	88	121	72.7%	cbioportal
3	BRAF	Ssm	76	121	62.8%	cbioportal
4	DNAH5	Ssm	61	121	50.4%	cbioportal
5	LRP1B	Ssm	56	121	46.3%	cbioportal
6	PCLO	Ssm	56	121	46.3%	cbioportal
7	CSMD1	Ssm	48	121	39.7%	cbioportal
8	APOB	Ssm	47	121	38.8%	cbioportal
9	PKHD1L1	Ssm	47	121	38.8%	cbioportal
12	MUC17	Ssm	46	121	38%	cbioportal
11	DNAH7	Ssm	46	121	38%	cbioportal
10	ANK3	Ssm	46	121	38%	cbioportal
13	USH2A	Ssm	44	121	36.4%	cbioportal
14	ADGRV1	Ssm	43	121	35.5%	cbioportal
15	CSMD2	Ssm	43	121	35.5%	cbioportal
16	DNAH8	Ssm	42	121	34.7%	cbioportal
17	FAT4	Ssm	41	121	33.9%	cbioportal
18	ZFHX4	Ssm	40	121	33.1%	cbioportal
19	HYDIN	Ssm	39	121	32.2%	cbioportal
20	MGAM	Ssm	38	121	31.4%	cbioportal
21	MXRA5	Ssm	38	121	31.4%	cbioportal
23	UNC13C	Ssm	37	121	30.6%	cbioportal
22	PREX2	Ssm	37	121	30.6%	cbioportal
24	FAT3	Ssm	36	121	29.8%	cbioportal
27	SPHKAP	Ssm	36	121	29.8%	cbioportal
26	RP1	Ssm	36	121	29.8%	cbioportal
25	MYH4	Ssm	36	121	29.8%	cbioportal
28	CSMD3	Ssm	35	121	28.9%	cbioportal
29	PAPPA2	Ssm	35	121	28.9%	cbioportal
30	THSD7B	Ssm	35	121	28.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Skin Cutaneous Melanoma (TCGA, Firehose Legacy) skcm_tcgaTCGA

368 cases with simple somatic mutation data · 480 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	265	368	72%	cbioportal
2	MUC16	Ssm	250	368	67.9%	cbioportal
3	BRAF	Ssm	189	368	51.4%	cbioportal
4	DNAH5	Ssm	179	368	48.6%	cbioportal
5	PCLO	Ssm	160	368	43.5%	cbioportal
6	LRP1B	Ssm	138	368	37.5%	cbioportal
7	CSMD1	Ssm	130	368	35.3%	cbioportal
8	ADGRV1	Ssm	127	368	34.5%	cbioportal
9	MGAM	Ssm	123	368	33.4%	cbioportal
10	RP1	Ssm	123	368	33.4%	cbioportal
11	DNAH7	Ssm	122	368	33.2%	cbioportal
12	ANK3	Ssm	118	368	32.1%	cbioportal
13	XIRP2	Ssm	116	368	31.5%	cbioportal
14	DSCAM	Ssm	115	368	31.3%	cbioportal
15	APOB	Ssm	114	368	31%	cbioportal
18	FLG	Ssm	113	368	30.7%	cbioportal
17	CSMD3	Ssm	113	368	30.7%	cbioportal
16	CSMD2	Ssm	113	368	30.7%	cbioportal
19	MUC17	Ssm	112	368	30.4%	cbioportal
20	PKHD1L1	Ssm	112	368	30.4%	cbioportal
21	DNAH9	Ssm	111	368	30.2%	cbioportal
22	USH2A	Ssm	110	368	29.9%	cbioportal
23	FAT4	Ssm	109	368	29.6%	cbioportal
24	THSD7B	Ssm	108	368	29.3%	cbioportal
25	FAT3	Ssm	107	368	29.1%	cbioportal
26	DNAH8	Ssm	106	368	28.8%	cbioportal
27	DNAH3	Ssm	104	368	28.3%	cbioportal
29	PTPRT	Ssm	102	368	27.7%	cbioportal
28	MXRA5	Ssm	102	368	27.7%	cbioportal
30	NRAS	Ssm	98	368	26.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Skin Cutaneous Melanoma (TCGA, PanCancer Atlas) skcm_tcga_pan_can_atlas_2018TCGA

440 cases with simple somatic mutation data · 448 cases total · 2026-06-04 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	352	440	80%	cbioportal
2	MUC16	Ssm	325	440	73.9%	cbioportal
3	DNAH5	Ssm	248	440	56.4%	cbioportal
4	BRAF	Ssm	233	440	53%	cbioportal
5	PCLO	Ssm	216	440	49.1%	cbioportal
6	LRP1B	Ssm	206	440	46.8%	cbioportal
7	ADGRV1	Ssm	198	440	45%	cbioportal
8	PKHD1L1	Ssm	185	440	42%	cbioportal
9	DNAH7	Ssm	179	440	40.7%	cbioportal
10	MGAM	Ssm	176	440	40%	cbioportal
11	CSMD1	Ssm	175	440	39.8%	cbioportal
12	CSMD2	Ssm	174	440	39.5%	cbioportal
13	FAT4	Ssm	171	440	38.9%	cbioportal
14	ANK3	Ssm	167	440	38%	cbioportal
15	CSMD3	Ssm	164	440	37.3%	cbioportal
16	RP1	Ssm	163	440	37%	cbioportal
17	XIRP2	Ssm	160	440	36.4%	cbioportal
18	HYDIN	Ssm	159	440	36.1%	cbioportal
19	THSD7B	Ssm	157	440	35.7%	cbioportal
21	USH2A	Ssm	156	440	35.5%	cbioportal
20	DNAH9	Ssm	156	440	35.5%	cbioportal
22	DNAH8	Ssm	154	440	35%	cbioportal
23	DSCAM	Ssm	151	440	34.3%	cbioportal
25	SYNE1	Ssm	150	440	34.1%	cbioportal
24	FLG	Ssm	150	440	34.1%	cbioportal
27	ZFHX4	Ssm	146	440	33.2%	cbioportal
26	APOB	Ssm	146	440	33.2%	cbioportal
28	RYR1	Ssm	145	440	33%	cbioportal
30	MXRA5	Ssm	143	440	32.5%	cbioportal
29	DNAH3	Ssm	143	440	32.5%	cbioportal

Data updated 22 days agoSource updated 2026-06-04

Skin Cutaneous Melanoma (Yale, Nat Genet 2012) skcm_yaleYale

147 cases with simple somatic mutation data · 147 cases total · 2026-01-13 · mapped to Cutaneous Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	34	147	23.1%	cbioportal
2	DNAH5	Ssm	32	147	21.8%	cbioportal
3	LRP1B	Ssm	26	147	17.7%	cbioportal
4	ANK3	Ssm	24	147	16.3%	cbioportal
5	DCC	Ssm	23	147	15.6%	cbioportal
8	PTPRD	Ssm	22	147	15%	cbioportal
6	CSMD2	Ssm	22	147	15%	cbioportal
7	DNAH8	Ssm	22	147	15%	cbioportal
9	USH2A	Ssm	22	147	15%	cbioportal
10	COL22A1	Ssm	21	147	14.3%	cbioportal
11	COL4A5	Ssm	21	147	14.3%	cbioportal
12	DNAH3	Ssm	20	147	13.6%	cbioportal
13	LRP2	Ssm	20	147	13.6%	cbioportal
15	COL5A1	Ssm	19	147	12.9%	cbioportal
16	CSMD3	Ssm	19	147	12.9%	cbioportal
17	DNAH9	Ssm	19	147	12.9%	cbioportal
18	MUC17	Ssm	19	147	12.9%	cbioportal
19	NRAS	Ssm	19	147	12.9%	cbioportal
20	RELN	Ssm	19	147	12.9%	cbioportal
22	TTN	Ssm	19	147	12.9%	cbioportal
21	SCN10A	Ssm	19	147	12.9%	cbioportal
14	COL3A1	Ssm	19	147	12.9%	cbioportal
24	C6	Ssm	18	147	12.2%	cbioportal
23	APOB	Ssm	18	147	12.2%	cbioportal
25	VWF	Ssm	18	147	12.2%	cbioportal
29	ERICH3	Ssm	17	147	11.6%	cbioportal
26	ADAMTS20	Ssm	17	147	11.6%	cbioportal
27	CD163	Ssm	17	147	11.6%	cbioportal
28	COL14A1	Ssm	17	147	11.6%	cbioportal
30	SPHKAP	Ssm	17	147	11.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Small Cell Carcinoma of the Ovary (MSK, Nat Genet 2014) scco_mskccMSK

12 cases with simple somatic mutation data · 12 cases total · 2026-01-13 · mapped to Ovarian Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved5 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	SMARCA4	Ssm	11	12	91.7%	cbioportal
5	WT1	Ssm	1	12	8.3%	cbioportal
2	ASXL1	Ssm	1	12	8.3%	cbioportal
4	NOTCH2	Ssm	1	12	8.3%	cbioportal
3	JAK3	Ssm	1	12	8.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Small Cell Lung Cancer (CLCGP, Nat Genet 2012) sclc_clcgpCLCGP

29 cases with simple somatic mutation data · 29 cases total · 2026-01-13 · mapped to Lung Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	26	29	89.7%	cbioportal
2	RB1	Ssm	19	29	65.5%	cbioportal
4	USH2A	Ssm	13	29	44.8%	cbioportal
3	LRP1B	Ssm	13	29	44.8%	cbioportal
5	TTN	Ssm	11	29	37.9%	cbioportal
7	PKHD1	Ssm	10	29	34.5%	cbioportal
6	CSMD3	Ssm	10	29	34.5%	cbioportal
9	MUC17	Ssm	9	29	31%	cbioportal
10	PRDM9	Ssm	9	29	31%	cbioportal
8	COL11A1	Ssm	9	29	31%	cbioportal
12	SPHKAP	Ssm	8	29	27.6%	cbioportal
15	ZNF536	Ssm	8	29	27.6%	cbioportal
14	ZNF521	Ssm	8	29	27.6%	cbioportal
13	SYNE1	Ssm	8	29	27.6%	cbioportal
11	DMD	Ssm	8	29	27.6%	cbioportal
22	ZNF804A	Ssm	7	29	24.1%	cbioportal
21	TNN	Ssm	7	29	24.1%	cbioportal
20	TMEM132D	Ssm	7	29	24.1%	cbioportal
19	TKTL2	Ssm	7	29	24.1%	cbioportal
18	SI	Ssm	7	29	24.1%	cbioportal
17	FLG	Ssm	7	29	24.1%	cbioportal
16	CSMD2	Ssm	7	29	24.1%	cbioportal
29	FAT4	Ssm	6	29	20.7%	cbioportal
30	HCN1	Ssm	6	29	20.7%	cbioportal
23	ANKRD30A	Ssm	6	29	20.7%	cbioportal
24	CDH10	Ssm	6	29	20.7%	cbioportal
25	COL22A1	Ssm	6	29	20.7%	cbioportal
26	DNAH9	Ssm	6	29	20.7%	cbioportal
27	ERBB4	Ssm	6	29	20.7%	cbioportal
28	ERICH3	Ssm	6	29	20.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Small Cell Lung Cancer (Johns Hopkins, Nat Genet 2012) sclc_jhuJohns Hopkins

80 cases with simple somatic mutation data · 80 cases total · 2026-01-13 · mapped to Lung Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	36	80	45%	cbioportal
2	RB1	Ssm	19	80	23.8%	cbioportal
3	CSMD3	Ssm	17	80	21.3%	cbioportal
4	TTN	Ssm	16	80	20%	cbioportal
5	LRP1B	Ssm	15	80	18.8%	cbioportal
6	MUC17	Ssm	12	80	15%	cbioportal
8	USH2A	Ssm	11	80	13.8%	cbioportal
7	HCN1	Ssm	11	80	13.8%	cbioportal
9	DNAH7	Ssm	10	80	12.5%	cbioportal
10	COL11A1	Ssm	9	80	11.3%	cbioportal
11	COL22A1	Ssm	9	80	11.3%	cbioportal
12	SYNE1	Ssm	9	80	11.3%	cbioportal
13	BRINP3	Ssm	8	80	10%	cbioportal
14	GRIN2B	Ssm	8	80	10%	cbioportal
23	NAV3	Ssm	7	80	8.8%	cbioportal
20	KIF21A	Ssm	7	80	8.8%	cbioportal
19	FSIP2	Ssm	7	80	8.8%	cbioportal
18	FAM135B	Ssm	7	80	8.8%	cbioportal
17	ERICH3	Ssm	7	80	8.8%	cbioportal
16	DNAH5	Ssm	7	80	8.8%	cbioportal
15	ANK2	Ssm	7	80	8.8%	cbioportal
25	RYR2	Ssm	7	80	8.8%	cbioportal
24	PKHD1	Ssm	7	80	8.8%	cbioportal
22	MYH2	Ssm	7	80	8.8%	cbioportal
21	MORC1	Ssm	7	80	8.8%	cbioportal
28	COL4A2	Ssm	6	80	7.5%	cbioportal
27	CNTNAP2	Ssm	6	80	7.5%	cbioportal
26	ADGRG4	Ssm	6	80	7.5%	cbioportal
29	DCC	Ssm	6	80	7.5%	cbioportal
30	DIP2C	Ssm	6	80	7.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Small-Cell Lung Cancer (Multi-Institute, Cancer Cell 2017) sclc_cancercell_gardner_2017Multi-Institute

20 cases with simple somatic mutation data · 20 cases total · 2026-01-13 · mapped to Lung Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	POLE	Ssm	20	20	100%	cbioportal
2	CUBN	Ssm	19	20	95%	cbioportal
3	GRIN2C	Ssm	19	20	95%	cbioportal
5	DBN1	Ssm	18	20	90%	cbioportal
10	OR10Q1	Ssm	18	20	90%	cbioportal
9	MUC16	Ssm	18	20	90%	cbioportal
8	GART	Ssm	18	20	90%	cbioportal
7	FSIP2	Ssm	18	20	90%	cbioportal
6	DGKG	Ssm	18	20	90%	cbioportal
4	CATSPERT	Ssm	18	20	90%	cbioportal
13	PIKFYVE	Ssm	17	20	85%	cbioportal
11	IGLV1-47	Ssm	17	20	85%	cbioportal
12	OBSCN	Ssm	17	20	85%	cbioportal
30	C4ORF36	Ssm	16	20	80%	cbioportal
29	BCL2L2	Ssm	16	20	80%	cbioportal
18	AHNAK	Ssm	16	20	80%	cbioportal
28	B3GALT5-AS1	Ssm	16	20	80%	cbioportal
27	ATP11A	Ssm	16	20	80%	cbioportal
16	ADAM22	Ssm	16	20	80%	cbioportal
17	ADGRG6	Ssm	16	20	80%	cbioportal
14	ABCA6	Ssm	16	20	80%	cbioportal
15	ABCB11	Ssm	16	20	80%	cbioportal
26	ATG2B	Ssm	16	20	80%	cbioportal
25	ARMC9	Ssm	16	20	80%	cbioportal
24	ARHGAP22	Ssm	16	20	80%	cbioportal
23	AP3B1	Ssm	16	20	80%	cbioportal
22	ANTXR2	Ssm	16	20	80%	cbioportal
21	ANKS6	Ssm	16	20	80%	cbioportal
20	AKAP9	Ssm	16	20	80%	cbioportal
19	AHNAK2	Ssm	16	20	80%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Small Cell Lung Cancer (U Cologne, Nature 2015) sclc_ucologne_2015U Cologne

120 cases with simple somatic mutation data · 120 cases total · 2026-01-13 · mapped to Lung Small Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	103	120	85.8%	cbioportal
2	RB1	Ssm	87	120	72.5%	cbioportal
3	TTN	Ssm	77	120	64.2%	cbioportal
4	RYR2	Ssm	54	120	45%	cbioportal
5	LRP1B	Ssm	51	120	42.5%	cbioportal
6	MUC16	Ssm	49	120	40.8%	cbioportal
7	ZFHX4	Ssm	46	120	38.3%	cbioportal
8	USH2A	Ssm	44	120	36.7%	cbioportal
9	CSMD3	Ssm	42	120	35%	cbioportal
10	NAV3	Ssm	35	120	29.2%	cbioportal
11	PCDH15	Ssm	32	120	26.7%	cbioportal
12	COL11A1	Ssm	31	120	25.8%	cbioportal
13	CSMD1	Ssm	28	120	23.3%	cbioportal
15	MUC17	Ssm	27	120	22.5%	cbioportal
14	EYS	Ssm	27	120	22.5%	cbioportal
16	SYNE1	Ssm	27	120	22.5%	cbioportal
17	ANKRD30B	Ssm	26	120	21.7%	cbioportal
18	FAM135B	Ssm	26	120	21.7%	cbioportal
19	FSIP2	Ssm	25	120	20.8%	cbioportal
20	TMEM132D	Ssm	25	120	20.8%	cbioportal
23	SI	Ssm	24	120	20%	cbioportal
22	PKHD1	Ssm	24	120	20%	cbioportal
21	ERICH3	Ssm	24	120	20%	cbioportal
26	SPTA1	Ssm	23	120	19.2%	cbioportal
28	XIRP2	Ssm	23	120	19.2%	cbioportal
25	RYR1	Ssm	23	120	19.2%	cbioportal
24	PKHD1L1	Ssm	23	120	19.2%	cbioportal
27	TENM1	Ssm	23	120	19.2%	cbioportal
29	ADGB	Ssm	22	120	18.3%	cbioportal
30	FAT3	Ssm	22	120	18.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Soft Tissue Sarcoma MYOD1 (MSK, Sci Adv 2026) soft_tissue_myod1_msk_2025MSK

20 cases with simple somatic mutation data · 20 cases total · 2026-03-05 · mapped to Rhabdomyosarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MYOD1	Ssm	20	20	100%	cbioportal
2	PIK3CA	Ssm	5	20	25%	cbioportal
3	ARID1B	Ssm	2	20	10%	cbioportal
4	CHEK2	Ssm	2	20	10%	cbioportal
5	FGFR4	Ssm	2	20	10%	cbioportal
7	NOTCH4	Ssm	2	20	10%	cbioportal
6	MAP3K1	Ssm	2	20	10%	cbioportal
9	SMARCB1	Ssm	2	20	10%	cbioportal
8	NRAS	Ssm	2	20	10%	cbioportal
38	ZFHX3	Ssm	1	17	5.9%	cbioportal
26	INHBA	Ssm	1	17	5.9%	cbioportal
28	MGA	Ssm	1	17	5.9%	cbioportal
31	PLCG2	Ssm	1	17	5.9%	cbioportal
21	H3-3A	Ssm	1	17	5.9%	cbioportal
36	STAT5A	Ssm	1	17	5.9%	cbioportal
22	H3C10	Ssm	1	17	5.9%	cbioportal
23	HLA-A	Ssm	1	17	5.9%	cbioportal
35	SPEN	Ssm	1	20	5%	cbioportal
32	POLE	Ssm	1	20	5%	cbioportal
33	PTEN	Ssm	1	20	5%	cbioportal
17	DOT1L	Ssm	1	20	5%	cbioportal
15	BCOR	Ssm	1	20	5%	cbioportal
14	ATM	Ssm	1	20	5%	cbioportal
13	ARID5B	Ssm	1	20	5%	cbioportal
12	ARID1A	Ssm	1	20	5%	cbioportal
11	AKT1	Ssm	1	20	5%	cbioportal
10	ABL1	Ssm	1	20	5%	cbioportal
16	CDKN2A	Ssm	1	20	5%	cbioportal
37	TMEM127	Ssm	1	20	5%	cbioportal
34	ROS1	Ssm	1	20	5%	cbioportal

Data updated 22 days agoSource updated 2026-03-05

Squamous Cell Carcinoma of the Vulva (CUK, Exp Mol Med 2018) vsc_cuk_2018CUK

15 cases with simple somatic mutation data · 15 cases total · 2026-01-16 · mapped to Vaginal Squamous Cell Carcinoma, Not Otherwise Specified EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	MAML2	Ssm	6	15	40%	cbioportal
2	ODF1	Ssm	5	15	33.3%	cbioportal
3	SPTBN1	Ssm	5	15	33.3%	cbioportal
4	SYNE1	Ssm	5	15	33.3%	cbioportal
5	TP53	Ssm	5	15	33.3%	cbioportal
7	NRG3	Ssm	4	15	26.7%	cbioportal
6	FAT2	Ssm	4	15	26.7%	cbioportal
28	PARD3B	Ssm	3	15	20%	cbioportal
17	DCHS1	Ssm	3	15	20%	cbioportal
18	F5	Ssm	3	15	20%	cbioportal
15	CREBBP	Ssm	3	15	20%	cbioportal
14	CASP8	Ssm	3	15	20%	cbioportal
13	CACNA1B	Ssm	3	15	20%	cbioportal
12	APC	Ssm	3	15	20%	cbioportal
11	ANP32E	Ssm	3	15	20%	cbioportal
10	AMOTL2	Ssm	3	15	20%	cbioportal
9	ALMS1	Ssm	3	15	20%	cbioportal
8	AHNAK	Ssm	3	15	20%	cbioportal
30	SHROOM3	Ssm	3	15	20%	cbioportal
29	SCAF4	Ssm	3	15	20%	cbioportal
19	FAM193A	Ssm	3	15	20%	cbioportal
20	FAT1	Ssm	3	15	20%	cbioportal
21	KMT2B	Ssm	3	15	20%	cbioportal
22	KMT2C	Ssm	3	15	20%	cbioportal
23	LAMA5	Ssm	3	15	20%	cbioportal
24	MAML3	Ssm	3	15	20%	cbioportal
25	MDN1	Ssm	3	15	20%	cbioportal
26	NLGN3	Ssm	3	15	20%	cbioportal
27	NRG1	Ssm	3	15	20%	cbioportal
16	CSMD1	Ssm	3	15	20%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Stomach Adenocarcinoma TCGA-STADTCGA

443 cases with simple somatic mutation data · 443 cases total · Data Release 46.0 · mapped to Gastric Adenocarcinoma ALIAS

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CSMD3	Ssm	305	443	68.8%	gdc
2	RIMS2	Ssm	302	443	68.2%	gdc
3	FER1L6	Ssm	299	443	67.5%	gdc
4	TTN	Ssm	297	443	67%	gdc
5	MYC	Ssm	296	443	66.8%	gdc
6	ADCY8	Ssm	295	443	66.6%	gdc
7	TG	Ssm	295	443	66.6%	gdc
8	POU5F1B	Ssm	294	443	66.4%	gdc
11	UBR5	Ssm	293	443	66.1%	gdc
10	LRP12	Ssm	293	443	66.1%	gdc
9	ASAP1	Ssm	293	443	66.1%	gdc
12	DDX27	Ssm	292	443	65.9%	gdc
14	ZNF831	Ssm	290	443	65.5%	gdc
15	COL14A1	Ssm	290	443	65.5%	gdc
13	VPS13B	Ssm	290	443	65.5%	gdc
16	GSDMC	Ssm	289	443	65.2%	gdc
17	NFATC2	Ssm	289	443	65.2%	gdc
18	DIDO1	Ssm	289	443	65.2%	gdc
19	PLEC	Ssm	289	443	65.2%	gdc
23	KLHL38	Ssm	288	443	65%	gdc
22	ANXA13	Ssm	288	443	65%	gdc
21	WASHC5	Ssm	288	443	65%	gdc
20	PKHD1L1	Ssm	288	443	65%	gdc
26	ATAD2	Ssm	287	443	64.8%	gdc
30	LRATD2	Ssm	287	443	64.8%	gdc
24	FAM91A1	Ssm	287	443	64.8%	gdc
25	EXT1	Ssm	287	443	64.8%	gdc
27	FBXO32	Ssm	287	443	64.8%	gdc
28	SQLE	Ssm	287	443	64.8%	gdc
29	PTPRT	Ssm	287	443	64.8%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Stomach Adenocarcinoma (Pfizer and UHK, Nat Genet 2014) stad_pfizer_uhongkongPfizer and UHK

100 cases with simple somatic mutation data · 100 cases total · 2026-01-13 · mapped to Gastric Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	55	100	55%	cbioportal
2	TTN	Ssm	41	100	41%	cbioportal
3	MUC16	Ssm	24	100	24%	cbioportal
4	SYNE1	Ssm	22	100	22%	cbioportal
5	CSMD1	Ssm	19	100	19%	cbioportal
6	ARID1A	Ssm	18	100	18%	cbioportal
7	FLG	Ssm	17	100	17%	cbioportal
8	DNAH5	Ssm	16	100	16%	cbioportal
9	CDH1	Ssm	15	100	15%	cbioportal
12	LRP1B	Ssm	14	100	14%	cbioportal
11	HYDIN	Ssm	14	100	14%	cbioportal
10	FAT3	Ssm	14	100	14%	cbioportal
13	DNAH14	Ssm	13	100	13%	cbioportal
17	SPTA1	Ssm	13	100	13%	cbioportal
16	RYR3	Ssm	13	100	13%	cbioportal
15	OBSCN	Ssm	13	100	13%	cbioportal
14	KMT2C	Ssm	13	100	13%	cbioportal
18	SDK1	Ssm	12	100	12%	cbioportal
22	HRNR	Ssm	11	100	11%	cbioportal
21	COBLL1	Ssm	11	100	11%	cbioportal
23	MDN1	Ssm	11	100	11%	cbioportal
24	PCLO	Ssm	11	100	11%	cbioportal
25	PREX2	Ssm	11	100	11%	cbioportal
26	RNF43	Ssm	11	100	11%	cbioportal
27	RYR1	Ssm	11	100	11%	cbioportal
28	SYNE2	Ssm	11	100	11%	cbioportal
29	TGFBR2	Ssm	11	100	11%	cbioportal
30	XIRP2	Ssm	11	100	11%	cbioportal
19	ABCA13	Ssm	11	100	11%	cbioportal
20	CACNA1C	Ssm	11	100	11%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Stomach Adenocarcinoma (TCGA, Firehose Legacy) stad_tcgaTCGA

478 cases with simple somatic mutation data · 478 cases total · 2026-01-13 · mapped to Gastric Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	217	478	45.4%	cbioportal
2	TP53	Ssm	190	478	39.7%	cbioportal
3	MUC16	Ssm	134	478	28%	cbioportal
4	LRP1B	Ssm	104	478	21.8%	cbioportal
5	ARID1A	Ssm	102	478	21.3%	cbioportal
6	SYNE1	Ssm	101	478	21.1%	cbioportal
7	OBSCN	Ssm	95	478	19.9%	cbioportal
8	FLG	Ssm	86	478	18%	cbioportal
9	FAT4	Ssm	85	478	17.8%	cbioportal
10	CSMD1	Ssm	84	478	17.6%	cbioportal
11	PCLO	Ssm	80	478	16.7%	cbioportal
12	RYR2	Ssm	77	478	16.1%	cbioportal
14	FAT3	Ssm	73	478	15.3%	cbioportal
13	DNAH5	Ssm	73	478	15.3%	cbioportal
15	HMCN1	Ssm	73	478	15.3%	cbioportal
16	KMT2D	Ssm	69	478	14.4%	cbioportal
18	ZFHX4	Ssm	69	478	14.4%	cbioportal
17	SPTA1	Ssm	69	478	14.4%	cbioportal
19	PIK3CA	Ssm	65	478	13.6%	cbioportal
20	HSPG2	Ssm	63	478	13.2%	cbioportal
21	DNAH7	Ssm	62	478	13%	cbioportal
23	RYR3	Ssm	61	478	12.8%	cbioportal
22	PCDH15	Ssm	61	478	12.8%	cbioportal
24	SACS	Ssm	60	478	12.6%	cbioportal
26	DNAH11	Ssm	59	478	12.3%	cbioportal
27	LRRK2	Ssm	59	478	12.3%	cbioportal
28	USH2A	Ssm	59	478	12.3%	cbioportal
25	ACVR2A	Ssm	59	478	12.3%	cbioportal
30	CUBN	Ssm	58	478	12.1%	cbioportal
29	AHNAK2	Ssm	58	478	12.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Stomach Adenocarcinoma (TCGA GDC, 2025) stad_tcga_gdcTCGA GDC

431 cases with simple somatic mutation data · 443 cases total · 2026-01-14 · mapped to Gastric Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	221	431	51.3%	cbioportal
2	TP53	Ssm	198	431	45.9%	cbioportal
3	MUC16	Ssm	135	431	31.3%	cbioportal
4	ARID1A	Ssm	116	431	26.9%	cbioportal
5	LRP1B	Ssm	115	431	26.7%	cbioportal
6	CSMD3	Ssm	102	431	23.7%	cbioportal
7	SYNE1	Ssm	102	431	23.7%	cbioportal
8	FAT4	Ssm	92	431	21.3%	cbioportal
9	FLG	Ssm	85	431	19.7%	cbioportal
10	PCLO	Ssm	81	431	18.8%	cbioportal
11	HMCN1	Ssm	80	431	18.6%	cbioportal
12	ACVR2A	Ssm	77	431	17.9%	cbioportal
13	ZFHX4	Ssm	77	431	17.9%	cbioportal
14	DNAH5	Ssm	76	431	17.6%	cbioportal
15	OBSCN	Ssm	74	431	17.2%	cbioportal
16	SPTA1	Ssm	74	431	17.2%	cbioportal
17	RYR2	Ssm	73	431	16.9%	cbioportal
18	CSMD1	Ssm	71	431	16.5%	cbioportal
19	FAT3	Ssm	71	431	16.5%	cbioportal
20	KMT2D	Ssm	68	431	15.8%	cbioportal
21	PIK3CA	Ssm	67	431	15.5%	cbioportal
22	DST	Ssm	66	431	15.3%	cbioportal
23	SACS	Ssm	65	431	15.1%	cbioportal
25	PLEC	Ssm	62	431	14.4%	cbioportal
24	PCDH15	Ssm	62	431	14.4%	cbioportal
26	DMD	Ssm	61	431	14.2%	cbioportal
27	LRRK2	Ssm	60	431	13.9%	cbioportal
28	SYNE2	Ssm	59	431	13.7%	cbioportal
29	UBR5	Ssm	59	431	13.7%	cbioportal
30	COL12A1	Ssm	58	431	13.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Stomach Adenocarcinoma (TCGA, Nature 2014) stad_tcga_pubTCGA

295 cases with simple somatic mutation data · 295 cases total · 2026-01-13 · mapped to Gastric Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	166	295	56.3%	cbioportal
2	TP53	Ssm	138	295	46.8%	cbioportal
3	MUC16	Ssm	101	295	34.2%	cbioportal
4	ARID1A	Ssm	90	295	30.5%	cbioportal
5	LRP1B	Ssm	78	295	26.4%	cbioportal
6	SYNE1	Ssm	76	295	25.8%	cbioportal
7	FAT4	Ssm	70	295	23.7%	cbioportal
8	CSMD3	Ssm	68	295	23.1%	cbioportal
9	PCLO	Ssm	67	295	22.7%	cbioportal
10	HMCN1	Ssm	66	295	22.4%	cbioportal
11	CSMD1	Ssm	65	295	22%	cbioportal
12	KMT2D	Ssm	65	295	22%	cbioportal
13	FLG	Ssm	62	295	21%	cbioportal
14	RYR2	Ssm	59	295	20%	cbioportal
15	PIK3CA	Ssm	57	295	19.3%	cbioportal
16	SPTA1	Ssm	57	295	19.3%	cbioportal
18	FAT3	Ssm	56	295	19%	cbioportal
17	DNAH5	Ssm	56	295	19%	cbioportal
19	OBSCN	Ssm	55	295	18.6%	cbioportal
20	ZFHX4	Ssm	53	295	18%	cbioportal
21	RYR3	Ssm	50	295	16.9%	cbioportal
23	RNF43	Ssm	49	295	16.6%	cbioportal
22	PCDH15	Ssm	49	295	16.6%	cbioportal
25	PLEC	Ssm	48	295	16.3%	cbioportal
24	ADGRV1	Ssm	48	295	16.3%	cbioportal
26	DMD	Ssm	47	295	15.9%	cbioportal
27	SACS	Ssm	47	295	15.9%	cbioportal
29	RYR1	Ssm	46	295	15.6%	cbioportal
28	COL12A1	Ssm	46	295	15.6%	cbioportal
30	TSPOAP1	Ssm	46	295	15.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Stomach Adenocarcinoma (TCGA, PanCancer Atlas) stad_tcga_pan_can_atlas_2018TCGA

436 cases with simple somatic mutation data · 440 cases total · 2026-06-04 · mapped to Gastric Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	235	436	53.9%	cbioportal
2	TP53	Ssm	213	436	48.9%	cbioportal
3	MUC16	Ssm	146	436	33.5%	cbioportal
4	LRP1B	Ssm	120	436	27.5%	cbioportal
5	SYNE1	Ssm	111	436	25.5%	cbioportal
6	ARID1A	Ssm	110	436	25.2%	cbioportal
7	CSMD3	Ssm	107	436	24.5%	cbioportal
8	FLG	Ssm	103	436	23.6%	cbioportal
9	FAT4	Ssm	94	436	21.6%	cbioportal
10	CSMD1	Ssm	88	436	20.2%	cbioportal
11	PCLO	Ssm	88	436	20.2%	cbioportal
12	HMCN1	Ssm	86	436	19.7%	cbioportal
13	OBSCN	Ssm	81	436	18.6%	cbioportal
14	DNAH5	Ssm	80	436	18.3%	cbioportal
15	RYR2	Ssm	79	436	18.1%	cbioportal
16	ZFHX4	Ssm	79	436	18.1%	cbioportal
17	FAT3	Ssm	77	436	17.7%	cbioportal
18	SPTA1	Ssm	77	436	17.7%	cbioportal
19	KMT2D	Ssm	73	436	16.7%	cbioportal
20	PCDH15	Ssm	72	436	16.5%	cbioportal
21	PIK3CA	Ssm	71	436	16.3%	cbioportal
22	AHNAK2	Ssm	68	436	15.6%	cbioportal
23	PLEC	Ssm	64	436	14.7%	cbioportal
24	SACS	Ssm	64	436	14.7%	cbioportal
28	LAMA1	Ssm	62	436	14.2%	cbioportal
25	COL12A1	Ssm	62	436	14.2%	cbioportal
26	CUBN	Ssm	62	436	14.2%	cbioportal
27	DNAH11	Ssm	62	436	14.2%	cbioportal
29	RYR3	Ssm	62	436	14.2%	cbioportal
30	USH2A	Ssm	62	436	14.2%	cbioportal

Data updated 22 days agoSource updated 2026-06-04

Stomach Adenocarcinoma (UHK, Nat Genet 2011) stad_uhongkongUHK

22 cases with simple somatic mutation data · 22 cases total · 2026-01-13 · mapped to Gastric Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	9	22	40.9%	cbioportal
2	DNAH7	Ssm	7	22	31.8%	cbioportal
5	LRP1B	Ssm	6	22	27.3%	cbioportal
6	PTEN	Ssm	6	22	27.3%	cbioportal
3	ARID1A	Ssm	6	22	27.3%	cbioportal
7	SLCO6A1	Ssm	6	22	27.3%	cbioportal
4	CSMD3	Ssm	6	22	27.3%	cbioportal
9	TTN	Ssm	5	22	22.7%	cbioportal
8	PCDH15	Ssm	5	22	22.7%	cbioportal
14	EIF3A	Ssm	4	22	18.2%	cbioportal
15	FMN2	Ssm	4	22	18.2%	cbioportal
16	HERC2	Ssm	4	22	18.2%	cbioportal
17	HMCN1	Ssm	4	22	18.2%	cbioportal
18	LMAN1	Ssm	4	22	18.2%	cbioportal
19	PAPPA	Ssm	4	22	18.2%	cbioportal
21	SYNE2	Ssm	4	22	18.2%	cbioportal
20	SPTA1	Ssm	4	22	18.2%	cbioportal
22	TIAM1	Ssm	4	22	18.2%	cbioportal
24	USH2A	Ssm	4	22	18.2%	cbioportal
23	TTK	Ssm	4	22	18.2%	cbioportal
25	USP34	Ssm	4	22	18.2%	cbioportal
10	ACVR2A	Ssm	4	22	18.2%	cbioportal
11	BAZ2B	Ssm	4	22	18.2%	cbioportal
12	COPB2	Ssm	4	22	18.2%	cbioportal
13	DNAH3	Ssm	4	22	18.2%	cbioportal
47	DYSF	Ssm	3	22	13.6%	cbioportal
48	ERICH3	Ssm	3	22	13.6%	cbioportal
44	DHX36	Ssm	3	22	13.6%	cbioportal
45	DMD	Ssm	3	22	13.6%	cbioportal
46	DMXL1	Ssm	3	22	13.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Stomach Adenocarcinoma (U Tokyo, Nat Genet 2014) stad_utokyoU Tokyo

30 cases with simple somatic mutation data · 30 cases total · 2026-01-13 · mapped to Gastric Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	10	30	33.3%	cbioportal
2	TTN	Ssm	8	30	26.7%	cbioportal
3	RHOA	Ssm	7	30	23.3%	cbioportal
4	ARID1A	Ssm	5	30	16.7%	cbioportal
11	SPTA1	Ssm	4	30	13.3%	cbioportal
5	CACNA1H	Ssm	4	30	13.3%	cbioportal
6	CDC27	Ssm	4	30	13.3%	cbioportal
7	CDH1	Ssm	4	30	13.3%	cbioportal
8	KIF2B	Ssm	4	30	13.3%	cbioportal
9	MUC16	Ssm	4	30	13.3%	cbioportal
10	MYT1L	Ssm	4	30	13.3%	cbioportal
28	TENM1	Ssm	3	30	10%	cbioportal
30	TPRXL	Ssm	3	30	10%	cbioportal
12	COL12A1	Ssm	3	30	10%	cbioportal
13	CRB1	Ssm	3	30	10%	cbioportal
26	STAB1	Ssm	3	30	10%	cbioportal
27	SYNE1	Ssm	3	30	10%	cbioportal
29	TLL1	Ssm	3	30	10%	cbioportal
14	CSMD1	Ssm	3	30	10%	cbioportal
15	CYP7B1	Ssm	3	30	10%	cbioportal
16	DMD	Ssm	3	30	10%	cbioportal
17	DYNC2H1	Ssm	3	30	10%	cbioportal
18	GRM5	Ssm	3	30	10%	cbioportal
19	HEATR5B	Ssm	3	30	10%	cbioportal
20	KCNT2	Ssm	3	30	10%	cbioportal
21	NCKAP5	Ssm	3	30	10%	cbioportal
22	NF1	Ssm	3	30	10%	cbioportal
23	PLXNA4	Ssm	3	30	10%	cbioportal
24	RYR2	Ssm	3	30	10%	cbioportal
25	SRRM4	Ssm	3	30	10%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

The Angiosarcoma Project - Count Me In (Nature Medicine, 2020) angs_project_painter_2018Nature Medicine

48 cases with simple somatic mutation data · 48 cases total · 2026-01-05 · mapped to Angiosarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	14	48	29.2%	cbioportal
2	KDR	Ssm	10	48	20.8%	cbioportal
3	PIK3CA	Ssm	10	48	20.8%	cbioportal
6	TTN	Ssm	9	48	18.8%	cbioportal
4	LRP2	Ssm	9	48	18.8%	cbioportal
5	RYR2	Ssm	9	48	18.8%	cbioportal
11	POT1	Ssm	8	48	16.7%	cbioportal
9	PKHD1	Ssm	8	48	16.7%	cbioportal
8	ASXL3	Ssm	8	48	16.7%	cbioportal
7	ABCA13	Ssm	8	48	16.7%	cbioportal
12	RYR1	Ssm	8	48	16.7%	cbioportal
10	PLCG1	Ssm	8	48	16.7%	cbioportal
14	FLG	Ssm	7	48	14.6%	cbioportal
19	SI	Ssm	7	48	14.6%	cbioportal
17	MUC16	Ssm	7	48	14.6%	cbioportal
16	LRRK2	Ssm	7	48	14.6%	cbioportal
15	HRNR	Ssm	7	48	14.6%	cbioportal
18	MYH14	Ssm	7	48	14.6%	cbioportal
13	CSMD2	Ssm	7	48	14.6%	cbioportal
24	COL19A1	Ssm	6	48	12.5%	cbioportal
23	COL11A1	Ssm	6	48	12.5%	cbioportal
22	CCDC178	Ssm	6	48	12.5%	cbioportal
21	CACNA1I	Ssm	6	48	12.5%	cbioportal
20	ADGRV1	Ssm	6	48	12.5%	cbioportal
25	COL22A1	Ssm	6	48	12.5%	cbioportal
26	EPB41L3	Ssm	6	48	12.5%	cbioportal
27	FAT1	Ssm	6	48	12.5%	cbioportal
28	FLT4	Ssm	6	48	12.5%	cbioportal
29	FREM2	Ssm	6	48	12.5%	cbioportal
30	GRIK2	Ssm	6	48	12.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

The Angiosarcoma Project - Count Me In (Provisional, April 2025) angs_painter_2025Provisional

129 cases with simple somatic mutation data · 328 cases total · 2026-02-16 · mapped to Angiosarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	23	129	17.8%	cbioportal
3	MUC16	Ssm	15	129	11.6%	cbioportal
4	PKHD1	Ssm	15	129	11.6%	cbioportal
2	KDR	Ssm	15	129	11.6%	cbioportal
5	PLCG1	Ssm	14	129	10.9%	cbioportal
7	RYR2	Ssm	13	129	10.1%	cbioportal
6	POT1	Ssm	13	129	10.1%	cbioportal
8	TTN	Ssm	13	129	10.1%	cbioportal
9	SI	Ssm	12	129	9.3%	cbioportal
10	DNAH5	Ssm	11	129	8.5%	cbioportal
11	LRP1B	Ssm	11	129	8.5%	cbioportal
12	SPTA1	Ssm	11	129	8.5%	cbioportal
13	LRP2	Ssm	10	129	7.8%	cbioportal
15	TDRD15	Ssm	10	129	7.8%	cbioportal
16	USH2A	Ssm	10	129	7.8%	cbioportal
14	PTPRB	Ssm	10	129	7.8%	cbioportal
19	DMD	Ssm	9	129	7%	cbioportal
20	GLI3	Ssm	9	129	7%	cbioportal
18	COL22A1	Ssm	9	129	7%	cbioportal
22	LRRK2	Ssm	9	129	7%	cbioportal
24	TPO	Ssm	9	129	7%	cbioportal
21	KMT2D	Ssm	9	129	7%	cbioportal
17	COL11A1	Ssm	9	129	7%	cbioportal
23	NCKAP5	Ssm	9	129	7%	cbioportal
28	CARMIL3	Ssm	8	129	6.2%	cbioportal
32	FLT4	Ssm	8	129	6.2%	cbioportal
31	DNAH17	Ssm	8	129	6.2%	cbioportal
30	DNAH11	Ssm	8	129	6.2%	cbioportal
29	CNTN5	Ssm	8	129	6.2%	cbioportal
27	ASXL1	Ssm	8	129	6.2%	cbioportal

Data updated 22 days agoSource updated 2026-02-16

The Angiosarcoma Project (Provisional, July 2020) angs_painter_2020Provisional

83 cases with simple somatic mutation data · 83 cases total · 2026-01-05 · mapped to Angiosarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	20	83	24.1%	cbioportal
2	MUC16	Ssm	17	83	20.5%	cbioportal
3	RYR2	Ssm	17	83	20.5%	cbioportal
4	TTN	Ssm	17	83	20.5%	cbioportal
7	XIST	Ssm	15	83	18.1%	cbioportal
6	POT1	Ssm	15	83	18.1%	cbioportal
5	PKHD1	Ssm	15	83	18.1%	cbioportal
8	ZNF208	Ssm	15	83	18.1%	cbioportal
9	LRP2	Ssm	14	83	16.9%	cbioportal
12	LRP1B	Ssm	13	83	15.7%	cbioportal
10	FLG	Ssm	13	83	15.7%	cbioportal
13	PTPRB	Ssm	13	83	15.7%	cbioportal
11	KDR	Ssm	13	83	15.7%	cbioportal
15	COL11A1	Ssm	12	83	14.5%	cbioportal
16	FAT1	Ssm	12	83	14.5%	cbioportal
17	LRRK2	Ssm	12	83	14.5%	cbioportal
18	SI	Ssm	12	83	14.5%	cbioportal
14	CHD9	Ssm	12	83	14.5%	cbioportal
19	ADGRV1	Ssm	11	83	13.3%	cbioportal
20	ANK3	Ssm	11	83	13.3%	cbioportal
21	CMYA5	Ssm	11	83	13.3%	cbioportal
22	DNAH5	Ssm	11	83	13.3%	cbioportal
23	DNAH7	Ssm	11	83	13.3%	cbioportal
24	NCKAP5	Ssm	11	83	13.3%	cbioportal
25	NEB	Ssm	11	83	13.3%	cbioportal
30	GRIN2A	Ssm	10	83	12%	cbioportal
26	ABCA13	Ssm	10	83	12%	cbioportal
27	ASXL3	Ssm	10	83	12%	cbioportal
28	FAT3	Ssm	10	83	12%	cbioportal
29	GLI3	Ssm	10	83	12%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

The Metastatic Breast Cancer Project (Archived, 2020) brca_mbcproject_wagle_2017Archived

237 cases with simple somatic mutation data · 237 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PIK3CA	Ssm	76	237	32.1%	cbioportal
2	TP53	Ssm	76	237	32.1%	cbioportal
3	TTN	Ssm	51	237	21.5%	cbioportal
4	CDH1	Ssm	34	237	14.3%	cbioportal
5	HMCN1	Ssm	24	237	10.1%	cbioportal
6	GATA3	Ssm	23	237	9.7%	cbioportal
7	MUC16	Ssm	21	237	8.9%	cbioportal
8	PTEN	Ssm	19	237	8%	cbioportal
9	KMT2C	Ssm	17	237	7.2%	cbioportal
10	CSMD3	Ssm	16	237	6.8%	cbioportal
11	DMD	Ssm	16	237	6.8%	cbioportal
12	DNAH5	Ssm	15	237	6.3%	cbioportal
13	USH2A	Ssm	15	237	6.3%	cbioportal
17	TENM2	Ssm	14	237	5.9%	cbioportal
16	STAB2	Ssm	14	237	5.9%	cbioportal
15	HUWE1	Ssm	14	237	5.9%	cbioportal
14	CSMD1	Ssm	14	237	5.9%	cbioportal
18	BLTP1	Ssm	13	237	5.5%	cbioportal
19	MUC5B	Ssm	13	237	5.5%	cbioportal
25	TBX3	Ssm	12	237	5.1%	cbioportal
20	ARID1A	Ssm	12	237	5.1%	cbioportal
21	DST	Ssm	12	237	5.1%	cbioportal
22	FMN2	Ssm	12	237	5.1%	cbioportal
23	SPTA1	Ssm	12	237	5.1%	cbioportal
24	SYNE1	Ssm	12	237	5.1%	cbioportal
30	PKD1	Ssm	11	237	4.6%	cbioportal
26	CSMD2	Ssm	11	237	4.6%	cbioportal
27	ESR1	Ssm	11	237	4.6%	cbioportal
28	KDM6B	Ssm	11	237	4.6%	cbioportal
29	MYT1L	Ssm	11	237	4.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

The Metastatic Breast Cancer Project (Provisional, December 2021) brca_mbcproject_2022Provisional

379 cases with simple somatic mutation data · 379 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	113	379	29.8%	cbioportal
2	TTN	Ssm	82	379	21.6%	cbioportal
3	PIK3CA	Ssm	76	379	20.1%	cbioportal
4	CDH1	Ssm	55	379	14.5%	cbioportal
5	IGDCC4	Ssm	50	379	13.2%	cbioportal
6	ESR1	Ssm	43	379	11.3%	cbioportal
7	MUC16	Ssm	43	379	11.3%	cbioportal
8	HMCN1	Ssm	38	379	10%	cbioportal
9	ZKSCAN1	Ssm	37	379	9.8%	cbioportal
10	GIMAP6	Ssm	36	379	9.5%	cbioportal
11	SYNE1	Ssm	32	379	8.4%	cbioportal
12	RYR2	Ssm	31	379	8.2%	cbioportal
13	GATA3	Ssm	30	379	7.9%	cbioportal
14	RYR1	Ssm	29	379	7.7%	cbioportal
15	ZNF208	Ssm	28	379	7.4%	cbioportal
16	CSMD3	Ssm	27	379	7.1%	cbioportal
18	OBSCN	Ssm	27	379	7.1%	cbioportal
17	KMT2C	Ssm	27	379	7.1%	cbioportal
19	PTEN	Ssm	24	379	6.3%	cbioportal
20	ANK2	Ssm	23	379	6.1%	cbioportal
24	SPTBN4	Ssm	23	379	6.1%	cbioportal
23	RGPD4	Ssm	23	379	6.1%	cbioportal
22	LPIN1	Ssm	23	379	6.1%	cbioportal
21	DNAH5	Ssm	23	379	6.1%	cbioportal
27	CHD9	Ssm	22	379	5.8%	cbioportal
28	LCN9	Ssm	22	379	5.8%	cbioportal
29	PKD1	Ssm	22	379	5.8%	cbioportal
30	ZNF195	Ssm	22	379	5.8%	cbioportal
26	ANO6	Ssm	22	379	5.8%	cbioportal
25	ABCA13	Ssm	22	379	5.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Thyroid Carcinoma TCGA-THCATCGA

507 cases with simple somatic mutation data · 507 cases total · Data Release 46.0 · mapped to Thyroid Gland Carcinoma ALIAS

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	302	507	59.6%	gdc
2	TCN2	Ssm	71	507	14%	gdc
3	THOC5	Ssm	71	507	14%	gdc
7	SEC14L2	Ssm	70	507	13.8%	gdc
10	PLA2G3	Ssm	70	507	13.8%	gdc
11	TNRC6B	Ssm	70	507	13.8%	gdc
12	RFPL1	Ssm	70	507	13.8%	gdc
13	CELSR1	Ssm	70	507	13.8%	gdc
14	DEPDC5	Ssm	70	507	13.8%	gdc
15	SF3A1	Ssm	70	507	13.8%	gdc
4	SFI1	Ssm	70	507	13.8%	gdc
5	ZNRF3	Ssm	70	507	13.8%	gdc
6	EIF4ENIF1	Ssm	70	507	13.8%	gdc
8	SEC14L4	Ssm	70	507	13.8%	gdc
9	PISD	Ssm	70	507	13.8%	gdc
23	PIK3IP1	Ssm	69	507	13.6%	gdc
27	MPPED1	Ssm	69	507	13.6%	gdc
26	LIMK2	Ssm	69	507	13.6%	gdc
25	SMTN	Ssm	69	507	13.6%	gdc
16	MORC2	Ssm	69	507	13.6%	gdc
17	PATZ1	Ssm	69	507	13.6%	gdc
18	SLC5A1	Ssm	69	507	13.6%	gdc
30	PES1	Ssm	69	507	13.6%	gdc
29	DRG1	Ssm	69	507	13.6%	gdc
28	CCDC157	Ssm	69	507	13.6%	gdc
19	NEFH	Ssm	69	507	13.6%	gdc
20	SLC35E4	Ssm	69	507	13.6%	gdc
21	TUG1	Ssm	69	507	13.6%	gdc
22	EWSR1	Ssm	69	507	13.6%	gdc
24	FBXO7	Ssm	69	507	13.6%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Thyroid Carcinoma (TCGA, Firehose Legacy) thca_tcgaTCGA

405 cases with simple somatic mutation data · 516 cases total · 2026-01-13 · mapped to Thyroid Gland Papillary Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	242	405	59.8%	cbioportal
2	NRAS	Ssm	34	405	8.4%	cbioportal
3	HRAS	Ssm	14	405	3.5%	cbioportal
4	TTN	Ssm	13	405	3.2%	cbioportal
5	TG	Ssm	11	405	2.7%	cbioportal
6	MUC16	Ssm	10	405	2.5%	cbioportal
7	DNAH9	Ssm	9	405	2.2%	cbioportal
8	KMT2A	Ssm	7	405	1.7%	cbioportal
9	ZFHX3	Ssm	7	405	1.7%	cbioportal
11	SPTA1	Ssm	6	405	1.5%	cbioportal
10	EIF1AX	Ssm	6	405	1.5%	cbioportal
21	LRP1	Ssm	5	405	1.2%	cbioportal
22	MUC5B	Ssm	5	405	1.2%	cbioportal
23	OBSCN	Ssm	5	405	1.2%	cbioportal
24	OTUD4	Ssm	5	405	1.2%	cbioportal
25	PCDHAC2	Ssm	5	405	1.2%	cbioportal
26	PCDHGC5	Ssm	5	405	1.2%	cbioportal
27	PPM1D	Ssm	5	405	1.2%	cbioportal
28	PRKDC	Ssm	5	405	1.2%	cbioportal
14	ARID1B	Ssm	5	405	1.2%	cbioportal
13	APOB	Ssm	5	405	1.2%	cbioportal
12	ADGRV1	Ssm	5	405	1.2%	cbioportal
15	ATM	Ssm	5	405	1.2%	cbioportal
16	BDP1	Ssm	5	405	1.2%	cbioportal
17	CACNA1E	Ssm	5	405	1.2%	cbioportal
18	CHEK2	Ssm	5	405	1.2%	cbioportal
19	COL5A3	Ssm	5	405	1.2%	cbioportal
20	ITPR2	Ssm	5	405	1.2%	cbioportal
29	ARFGEF2	Ssm	4	405	1%	cbioportal
30	CD163	Ssm	4	405	1%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Thyroid Carcinoma (TCGA, PanCancer Atlas) thca_tcga_pan_can_atlas_2018TCGA

490 cases with simple somatic mutation data · 500 cases total · 2026-06-04 · mapped to Thyroid Gland Papillary Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	287	490	58.6%	cbioportal
2	NRAS	Ssm	39	490	8%	cbioportal
3	TTN	Ssm	21	490	4.3%	cbioportal
4	TG	Ssm	19	490	3.9%	cbioportal
5	HRAS	Ssm	16	490	3.3%	cbioportal
6	MUC16	Ssm	13	490	2.7%	cbioportal
8	ZFHX3	Ssm	10	490	2%	cbioportal
7	DNAH9	Ssm	10	490	2%	cbioportal
9	SPTA1	Ssm	8	490	1.6%	cbioportal
11	DNAH2	Ssm	7	490	1.4%	cbioportal
10	COL5A3	Ssm	7	490	1.4%	cbioportal
13	ITPR2	Ssm	7	490	1.4%	cbioportal
12	EIF1AX	Ssm	7	490	1.4%	cbioportal
16	PLEC	Ssm	7	490	1.4%	cbioportal
15	MACF1	Ssm	7	490	1.4%	cbioportal
14	KMT2A	Ssm	7	490	1.4%	cbioportal
17	RYR1	Ssm	7	490	1.4%	cbioportal
20	FAT3	Ssm	6	490	1.2%	cbioportal
24	PIK3R5	Ssm	6	490	1.2%	cbioportal
18	ADGRV1	Ssm	6	490	1.2%	cbioportal
22	KMT2C	Ssm	6	490	1.2%	cbioportal
23	MUC5B	Ssm	6	490	1.2%	cbioportal
21	HMCN1	Ssm	6	490	1.2%	cbioportal
19	ATM	Ssm	6	490	1.2%	cbioportal
30	CSMD1	Ssm	5	490	1%	cbioportal
25	AKT1	Ssm	5	490	1%	cbioportal
27	BDP1	Ssm	5	490	1%	cbioportal
26	ALPK3	Ssm	5	490	1%	cbioportal
28	BPTF	Ssm	5	490	1%	cbioportal
29	COL7A1	Ssm	5	490	1%	cbioportal

Data updated 22 days agoSource updated 2026-06-04

Triple Negative Breast Cancer (DLDCCC, Cancer Discov 2022) brca_dldccc_2022DLDCCC

75 cases with simple somatic mutation data · 75 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	53	75	70.7%	cbioportal
2	TTN	Ssm	19	75	25.3%	cbioportal
3	MUC16	Ssm	14	75	18.7%	cbioportal
5	OBSCN	Ssm	13	75	17.3%	cbioportal
4	DNAH8	Ssm	13	75	17.3%	cbioportal
7	TNXB	Ssm	12	75	16%	cbioportal
6	FLG	Ssm	12	75	16%	cbioportal
10	FBN3	Ssm	11	75	14.7%	cbioportal
11	LORICRIN	Ssm	11	75	14.7%	cbioportal
8	ADCY10	Ssm	11	75	14.7%	cbioportal
9	DNAH11	Ssm	11	75	14.7%	cbioportal
18	TG	Ssm	10	75	13.3%	cbioportal
12	CACNA1H	Ssm	10	75	13.3%	cbioportal
13	FAM83H	Ssm	10	75	13.3%	cbioportal
14	FCGBP	Ssm	10	75	13.3%	cbioportal
15	HEATR1	Ssm	10	75	13.3%	cbioportal
16	LAMA5	Ssm	10	75	13.3%	cbioportal
17	MYO15A	Ssm	10	75	13.3%	cbioportal
21	COL18A1	Ssm	9	75	12%	cbioportal
22	DNAH10	Ssm	9	75	12%	cbioportal
23	DNAH3	Ssm	9	75	12%	cbioportal
24	EPPK1	Ssm	9	75	12%	cbioportal
25	F5	Ssm	9	75	12%	cbioportal
26	GPRIN2	Ssm	9	75	12%	cbioportal
27	GREB1	Ssm	9	75	12%	cbioportal
28	LAMA1	Ssm	9	75	12%	cbioportal
29	LAMC3	Ssm	9	75	12%	cbioportal
30	MKI67	Ssm	9	75	12%	cbioportal
19	ABCA13	Ssm	9	75	12%	cbioportal
20	AHNAK2	Ssm	9	75	12%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Triple-Negative Breast Cancer (FUSCC, Cell Research 2020) brca_fuscc_2020FUSCC

69 cases with simple somatic mutation data · 69 cases total · 2026-01-05 · mapped to Invasive Breast Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	48	69	69.6%	cbioportal
2	PIK3CA	Ssm	12	69	17.4%	cbioportal
3	PKD1	Ssm	8	69	11.6%	cbioportal
4	PTEN	Ssm	7	69	10.1%	cbioportal
5	KMT2D	Ssm	6	69	8.7%	cbioportal
8	USH2A	Ssm	6	69	8.7%	cbioportal
6	PTPRD	Ssm	6	69	8.7%	cbioportal
7	TSC2	Ssm	6	69	8.7%	cbioportal
10	CREBBP	Ssm	5	69	7.2%	cbioportal
9	ARID1B	Ssm	5	69	7.2%	cbioportal
14	PLCG1	Ssm	5	69	7.2%	cbioportal
13	KMT2C	Ssm	5	69	7.2%	cbioportal
12	FAM47C	Ssm	5	69	7.2%	cbioportal
11	EHMT2	Ssm	5	69	7.2%	cbioportal
21	ERBB2	Ssm	4	69	5.8%	cbioportal
15	AFF2	Ssm	4	69	5.8%	cbioportal
16	AKT1	Ssm	4	69	5.8%	cbioportal
17	ANKRD11	Ssm	4	69	5.8%	cbioportal
18	ARID1A	Ssm	4	69	5.8%	cbioportal
19	CDH1	Ssm	4	69	5.8%	cbioportal
20	COL2A1	Ssm	4	69	5.8%	cbioportal
22	ERBB3	Ssm	4	69	5.8%	cbioportal
23	ERCC4	Ssm	4	69	5.8%	cbioportal
24	FASN	Ssm	4	69	5.8%	cbioportal
25	FGFR2	Ssm	4	69	5.8%	cbioportal
26	INSR	Ssm	4	69	5.8%	cbioportal
27	ITGB4	Ssm	4	69	5.8%	cbioportal
28	KCNB2	Ssm	4	69	5.8%	cbioportal
29	MAP3K1	Ssm	4	69	5.8%	cbioportal
30	PIK3R1	Ssm	4	69	5.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Unclassified Renal Cell Carcinoma (MSK, Nature 2016) urcc_mskcc_2016MSK

62 cases with simple somatic mutation data · 62 cases total · 2026-01-16 · mapped to Unclassified Renal Cell Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	NF2	Ssm	11	62	17.7%	cbioportal
2	SETD2	Ssm	11	62	17.7%	cbioportal
3	BAP1	Ssm	8	62	12.9%	cbioportal
4	KMT2C	Ssm	6	62	9.7%	cbioportal
5	MTOR	Ssm	5	62	8.1%	cbioportal
7	PTEN	Ssm	4	62	6.5%	cbioportal
8	TSC1	Ssm	4	62	6.5%	cbioportal
6	ATRX	Ssm	4	62	6.5%	cbioportal
12	KMT2D	Ssm	3	62	4.8%	cbioportal
13	NOTCH2	Ssm	3	62	4.8%	cbioportal
14	SMARCB1	Ssm	3	62	4.8%	cbioportal
15	TP53	Ssm	3	62	4.8%	cbioportal
16	TSC2	Ssm	3	62	4.8%	cbioportal
10	FH	Ssm	3	62	4.8%	cbioportal
9	DNMT3A	Ssm	3	62	4.8%	cbioportal
11	KLF6	Ssm	3	62	4.8%	cbioportal
19	GNAS	Ssm	2	62	3.2%	cbioportal
21	KDM6A	Ssm	2	62	3.2%	cbioportal
22	KMT2A	Ssm	2	62	3.2%	cbioportal
23	MLST8	Ssm	2	62	3.2%	cbioportal
24	PBRM1	Ssm	2	62	3.2%	cbioportal
25	PRKN	Ssm	2	62	3.2%	cbioportal
26	RICTOR	Ssm	2	62	3.2%	cbioportal
27	RPTOR	Ssm	2	62	3.2%	cbioportal
28	SUFU	Ssm	2	62	3.2%	cbioportal
17	CHEK2	Ssm	2	62	3.2%	cbioportal
18	EPHA6	Ssm	2	62	3.2%	cbioportal
20	IRS1	Ssm	2	62	3.2%	cbioportal
62	NTRK1	Ssm	1	62	1.6%	cbioportal
29	ABL1	Ssm	1	62	1.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Upper Tract Urothelial Cancer (MSK, Eur Urol 2015) utuc_mskcc_2015MSK

85 cases with simple somatic mutation data · 85 cases total · 2026-01-16 · mapped to Renal Pelvis and Ureter Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	FGFR3	Ssm	41	85	48.2%	cbioportal
2	KMT2D	Ssm	30	85	35.3%	cbioportal
3	KDM6A	Ssm	29	85	34.1%	cbioportal
4	KMT2C	Ssm	22	85	25.9%	cbioportal
5	STAG2	Ssm	19	85	22.4%	cbioportal
7	TP53	Ssm	15	85	17.6%	cbioportal
6	CREBBP	Ssm	15	85	17.6%	cbioportal
8	TSC1	Ssm	14	85	16.5%	cbioportal
9	PIK3CA	Ssm	13	85	15.3%	cbioportal
10	ARID1A	Ssm	11	85	12.9%	cbioportal
11	ATM	Ssm	10	85	11.8%	cbioportal
12	TERT	Ssm	10	85	11.8%	cbioportal
14	SMARCA4	Ssm	9	85	10.6%	cbioportal
13	HRAS	Ssm	9	85	10.6%	cbioportal
15	EP300	Ssm	8	85	9.4%	cbioportal
16	FAT1	Ssm	8	85	9.4%	cbioportal
18	EPHA5	Ssm	7	85	8.2%	cbioportal
17	ARID2	Ssm	7	85	8.2%	cbioportal
19	ERBB2	Ssm	6	85	7.1%	cbioportal
22	PBRM1	Ssm	6	85	7.1%	cbioportal
21	NF1	Ssm	6	85	7.1%	cbioportal
20	FBXW7	Ssm	6	85	7.1%	cbioportal
25	CDKN2A	Ssm	5	85	5.9%	cbioportal
30	NOTCH1	Ssm	5	85	5.9%	cbioportal
29	MTOR	Ssm	5	85	5.9%	cbioportal
28	MET	Ssm	5	85	5.9%	cbioportal
27	INPP4A	Ssm	5	85	5.9%	cbioportal
24	CDKN1A	Ssm	5	85	5.9%	cbioportal
26	GRIN2A	Ssm	5	85	5.9%	cbioportal
23	ARID1B	Ssm	5	85	5.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Upper Tract Urothelial Carcinoma (Cornell/Baylor/MDACC, Nat Commun 2019) utuc_cornell_baylor_mdacc_2019Cornell/Baylor/MDACC

37 cases with simple somatic mutation data · 47 cases total · 2026-01-19 · mapped to Renal Pelvis and Ureter Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KMT2D	Ssm	13	37	35.1%	cbioportal
2	TP53	Ssm	12	37	32.4%	cbioportal
3	FGFR3	Ssm	11	37	29.7%	cbioportal
4	PIK3CA	Ssm	8	37	21.6%	cbioportal
5	ATM	Ssm	7	37	18.9%	cbioportal
7	CDKN1A	Ssm	5	37	13.5%	cbioportal
8	EYS	Ssm	5	37	13.5%	cbioportal
9	OBSCN	Ssm	5	37	13.5%	cbioportal
6	ADGRV1	Ssm	5	37	13.5%	cbioportal
18	TTN	Ssm	4	37	10.8%	cbioportal
20	ZFHX4	Ssm	4	37	10.8%	cbioportal
19	UTRN	Ssm	4	37	10.8%	cbioportal
17	SPTAN1	Ssm	4	37	10.8%	cbioportal
16	RNF213	Ssm	4	37	10.8%	cbioportal
15	PLXNA2	Ssm	4	37	10.8%	cbioportal
14	MUC17	Ssm	4	37	10.8%	cbioportal
13	MACF1	Ssm	4	37	10.8%	cbioportal
12	KDM6A	Ssm	4	37	10.8%	cbioportal
11	ARID1A	Ssm	4	37	10.8%	cbioportal
10	AFF1	Ssm	4	37	10.8%	cbioportal
27	ATR	Ssm	3	37	8.1%	cbioportal
26	ATP2B2	Ssm	3	37	8.1%	cbioportal
28	BAP1	Ssm	3	37	8.1%	cbioportal
29	BICD2	Ssm	3	37	8.1%	cbioportal
30	BIRC6	Ssm	3	37	8.1%	cbioportal
21	ABCC1	Ssm	3	37	8.1%	cbioportal
22	AHCTF1	Ssm	3	37	8.1%	cbioportal
23	AHNAK	Ssm	3	37	8.1%	cbioportal
24	ARK2N	Ssm	3	37	8.1%	cbioportal
25	ATG2A	Ssm	3	37	8.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-19

Upper Tract Urothelial Carcinoma (IGBMC, Genome Biology 2021) utuc_igbmc_2021IGBMC

30 cases with simple somatic mutation data · 30 cases total · 2026-01-19 · mapped to Renal Pelvis and Ureter Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	FGFR3	Ssm	15	30	50%	cbioportal
2	TTN	Ssm	9	30	30%	cbioportal
4	KMT2D	Ssm	8	30	26.7%	cbioportal
3	KDM6A	Ssm	8	30	26.7%	cbioportal
6	MUC4	Ssm	7	30	23.3%	cbioportal
5	KMT2C	Ssm	7	30	23.3%	cbioportal
8	ZFP36L1	Ssm	6	30	20%	cbioportal
7	HYDIN	Ssm	6	30	20%	cbioportal
12	TP53	Ssm	5	30	16.7%	cbioportal
11	STAG2	Ssm	5	30	16.7%	cbioportal
10	CELSR1	Ssm	5	30	16.7%	cbioportal
9	ARID1A	Ssm	5	30	16.7%	cbioportal
18	MUC16	Ssm	4	30	13.3%	cbioportal
19	ZNF469	Ssm	4	30	13.3%	cbioportal
13	ACACA	Ssm	4	30	13.3%	cbioportal
14	CRIPAK	Ssm	4	30	13.3%	cbioportal
15	EP300	Ssm	4	30	13.3%	cbioportal
16	GANAB	Ssm	4	30	13.3%	cbioportal
17	HECTD4	Ssm	4	30	13.3%	cbioportal
40	NEB	Ssm	3	30	10%	cbioportal
36	INPPL1	Ssm	3	30	10%	cbioportal
35	GLYR1	Ssm	3	30	10%	cbioportal
34	GABRA5	Ssm	3	30	10%	cbioportal
33	FLG	Ssm	3	30	10%	cbioportal
32	FAT3	Ssm	3	30	10%	cbioportal
38	MACF1	Ssm	3	30	10%	cbioportal
39	MUC17	Ssm	3	30	10%	cbioportal
37	KL	Ssm	3	30	10%	cbioportal
42	RARG	Ssm	3	30	10%	cbioportal
41	PCDH15	Ssm	3	30	10%	cbioportal

Data updated 22 days agoSource updated 2026-01-19

Upper Tract Urothelial Carcinoma (MSK, Nat Commun 2020) utuc_msk_2019MSK

119 cases with simple somatic mutation data · 119 cases total · 2026-01-16 · mapped to Renal Pelvis and Ureter Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	FGFR3	Ssm	55	119	46.2%	cbioportal
2	KMT2D	Ssm	41	119	34.5%	cbioportal
3	KDM6A	Ssm	39	119	32.8%	cbioportal
4	TERT	Ssm	32	119	26.9%	cbioportal
5	KMT2C	Ssm	27	119	22.7%	cbioportal
6	ARID1A	Ssm	26	119	21.8%	cbioportal
7	TP53	Ssm	26	119	21.8%	cbioportal
8	STAG2	Ssm	24	119	20.2%	cbioportal
9	CREBBP	Ssm	21	119	17.6%	cbioportal
10	ATM	Ssm	19	119	16%	cbioportal
11	PIK3CA	Ssm	19	119	16%	cbioportal
12	TSC1	Ssm	16	119	13.4%	cbioportal
13	HRAS	Ssm	14	119	11.8%	cbioportal
45	ZFHX3	Ssm	7	60	11.7%	cbioportal
14	SMARCA4	Ssm	13	119	10.9%	cbioportal
17	ERBB2	Ssm	11	119	9.2%	cbioportal
19	FBXW7	Ssm	11	119	9.2%	cbioportal
15	ARID1B	Ssm	11	119	9.2%	cbioportal
18	FAT1	Ssm	11	119	9.2%	cbioportal
16	EP300	Ssm	11	119	9.2%	cbioportal
21	PBRM1	Ssm	10	119	8.4%	cbioportal
20	NF1	Ssm	10	119	8.4%	cbioportal
81	SPEN	Ssm	5	61	8.2%	cbioportal
25	MTOR	Ssm	9	119	7.6%	cbioportal
23	EPHA5	Ssm	9	119	7.6%	cbioportal
24	MET	Ssm	9	119	7.6%	cbioportal
22	CDKN1A	Ssm	9	119	7.6%	cbioportal
29	KRAS	Ssm	8	119	6.7%	cbioportal
28	CTCF	Ssm	8	119	6.7%	cbioportal
30	MED12	Ssm	8	119	6.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Upper Tract Urothelial Carcinoma PDX (MSK, Nat Commun 2020) utuc_pdx_msk_2019MSK

78 cases with simple somatic mutation data · 78 cases total · 2026-01-16 · mapped to Renal Pelvis and Ureter Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	37	78	47.4%	cbioportal
2	ARID1A	Ssm	29	78	37.2%	cbioportal
3	FGFR3	Ssm	28	78	35.9%	cbioportal
4	TP53	Ssm	27	78	34.6%	cbioportal
5	KMT2D	Ssm	25	78	32.1%	cbioportal
6	KDM6A	Ssm	24	78	30.8%	cbioportal
7	ATM	Ssm	19	78	24.4%	cbioportal
8	CREBBP	Ssm	17	78	21.8%	cbioportal
9	ZFHX3	Ssm	15	70	21.4%	cbioportal
10	SMARCA4	Ssm	14	78	17.9%	cbioportal
13	MDC1	Ssm	13	76	17.1%	cbioportal
11	ASXL1	Ssm	13	78	16.7%	cbioportal
99	MSH3	Ssm	5	30	16.7%	cbioportal
12	EP300	Ssm	13	78	16.7%	cbioportal
15	MSH2	Ssm	12	78	15.4%	cbioportal
16	PIK3CA	Ssm	12	78	15.4%	cbioportal
17	SETD2	Ssm	12	78	15.4%	cbioportal
14	BRCA1	Ssm	12	78	15.4%	cbioportal
18	NOTCH2	Ssm	11	78	14.1%	cbioportal
29	RECQL4	Ssm	10	76	13.2%	cbioportal
28	PIK3CB	Ssm	10	78	12.8%	cbioportal
23	DNMT1	Ssm	10	78	12.8%	cbioportal
24	DNMT3A	Ssm	10	78	12.8%	cbioportal
25	FAT1	Ssm	10	78	12.8%	cbioportal
26	HRAS	Ssm	10	78	12.8%	cbioportal
27	MET	Ssm	10	78	12.8%	cbioportal
22	CTCF	Ssm	10	78	12.8%	cbioportal
21	CDKN1A	Ssm	10	78	12.8%	cbioportal
20	BCOR	Ssm	10	78	12.8%	cbioportal
19	ARID1B	Ssm	10	78	12.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Urothelial Cancer Patient Derived Organoids (MSK, 2025) blca_pdx_msk_2025MSK

90 cases with simple somatic mutation data · 90 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TERT	Ssm	71	90	78.9%	cbioportal
3	KDM6A	Ssm	35	90	38.9%	cbioportal
2	FGFR3	Ssm	35	90	38.9%	cbioportal
4	TP53	Ssm	34	90	37.8%	cbioportal
24	USP8	Ssm	12	34	35.3%	cbioportal
5	KMT2D	Ssm	31	90	34.4%	cbioportal
28	HLA-B	Ssm	11	46	23.9%	cbioportal
58	SERPINB3	Ssm	8	34	23.5%	cbioportal
6	MDC1	Ssm	21	90	23.3%	cbioportal
7	ARID1A	Ssm	20	90	22.2%	cbioportal
8	KMT2C	Ssm	19	90	21.1%	cbioportal
10	PIK3CA	Ssm	18	90	20%	cbioportal
11	TSC1	Ssm	18	90	20%	cbioportal
9	CREBBP	Ssm	18	90	20%	cbioportal
12	ZFHX3	Ssm	17	88	19.3%	cbioportal
13	ATM	Ssm	16	90	17.8%	cbioportal
102	SERPINB4	Ssm	6	34	17.6%	cbioportal
74	ATXN7	Ssm	6	34	17.6%	cbioportal
14	BRCA2	Ssm	15	90	16.7%	cbioportal
15	ATR	Ssm	14	90	15.6%	cbioportal
16	SPEN	Ssm	14	90	15.6%	cbioportal
71	PREX2	Ssm	7	46	15.2%	cbioportal
112	HLA-C	Ssm	5	34	14.7%	cbioportal
126	SMARCA2	Ssm	5	34	14.7%	cbioportal
17	STAG2	Ssm	13	90	14.4%	cbioportal
22	PALB2	Ssm	12	90	13.3%	cbioportal
23	ROS1	Ssm	12	90	13.3%	cbioportal
21	NOTCH3	Ssm	12	90	13.3%	cbioportal
20	NF1	Ssm	12	90	13.3%	cbioportal
19	FAT1	Ssm	12	90	13.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Urothelial Carcinoma (BCAN/HCRN, Nat Commun 2022) blca_bcan_hcrn_2022BCAN/HCRN

192 cases with simple somatic mutation data · 192 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	108	192	56.3%	cbioportal
2	KMT2D	Ssm	62	192	32.3%	cbioportal
3	ARID1A	Ssm	55	192	28.6%	cbioportal
4	RNF213	Ssm	54	192	28.1%	cbioportal
5	KDM6A	Ssm	48	192	25%	cbioportal
6	LRP1B	Ssm	47	192	24.5%	cbioportal
7	AKAP9	Ssm	39	192	20.3%	cbioportal
8	SPEN	Ssm	38	192	19.8%	cbioportal
9	BRCA2	Ssm	37	192	19.3%	cbioportal
10	KMT2C	Ssm	35	192	18.2%	cbioportal
11	EP300	Ssm	34	192	17.7%	cbioportal
12	FGFR3	Ssm	34	192	17.7%	cbioportal
13	RB1	Ssm	32	192	16.7%	cbioportal
14	ATM	Ssm	31	192	16.1%	cbioportal
15	PRKDC	Ssm	31	192	16.1%	cbioportal
16	KMT2A	Ssm	30	192	15.6%	cbioportal
17	CREBBP	Ssm	29	192	15.1%	cbioportal
18	PDE4DIP	Ssm	29	192	15.1%	cbioportal
19	PIK3CA	Ssm	29	192	15.1%	cbioportal
21	PCM1	Ssm	26	192	13.5%	cbioportal
20	KIAA1549	Ssm	26	192	13.5%	cbioportal
26	RECQL4	Ssm	25	192	13%	cbioportal
23	KNL1	Ssm	25	192	13%	cbioportal
24	MYH9	Ssm	25	192	13%	cbioportal
22	FANCA	Ssm	25	192	13%	cbioportal
25	NOTCH1	Ssm	25	192	13%	cbioportal
27	ERBB3	Ssm	24	192	12.5%	cbioportal
28	ERCC2	Ssm	23	192	12%	cbioportal
29	CNTRL	Ssm	22	192	11.5%	cbioportal
30	TRIP11	Ssm	22	192	11.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Urothelial Carcinoma (Cornell/Trento, Nat Gen 2016) blca_cornell_2016Cornell/Trento

72 cases with simple somatic mutation data · 72 cases total · 2026-01-05 · mapped to Bladder Urothelial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	41	72	56.9%	cbioportal
2	TTN	Ssm	26	72	36.1%	cbioportal
4	RYR2	Ssm	19	72	26.4%	cbioportal
3	MUC16	Ssm	19	72	26.4%	cbioportal
8	ZNF729	Ssm	17	72	23.6%	cbioportal
7	MYLK	Ssm	17	72	23.6%	cbioportal
6	MDC1	Ssm	17	72	23.6%	cbioportal
5	KMT2D	Ssm	17	72	23.6%	cbioportal
10	MBD4	Ssm	16	72	22.2%	cbioportal
11	MTCL2	Ssm	16	72	22.2%	cbioportal
12	NIN	Ssm	16	72	22.2%	cbioportal
13	PEAK1	Ssm	16	72	22.2%	cbioportal
9	DLG2	Ssm	16	72	22.2%	cbioportal
18	TCHH	Ssm	15	72	20.8%	cbioportal
14	CTCF	Ssm	15	72	20.8%	cbioportal
15	DYNC1H1	Ssm	15	72	20.8%	cbioportal
16	NOM1	Ssm	15	72	20.8%	cbioportal
17	PCF11	Ssm	15	72	20.8%	cbioportal
19	USP48	Ssm	15	72	20.8%	cbioportal
26	PDCL	Ssm	14	72	19.4%	cbioportal
23	LRWD1	Ssm	14	72	19.4%	cbioportal
27	PXDN	Ssm	14	72	19.4%	cbioportal
28	SPTAN1	Ssm	14	72	19.4%	cbioportal
29	SYNE2	Ssm	14	72	19.4%	cbioportal
24	MLXIPL	Ssm	14	72	19.4%	cbioportal
21	IFIH1	Ssm	14	72	19.4%	cbioportal
20	BICRA	Ssm	14	72	19.4%	cbioportal
25	NCOA3	Ssm	14	72	19.4%	cbioportal
22	LATS1	Ssm	14	72	19.4%	cbioportal
30	ACE	Ssm	13	72	18.1%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Uterine Carcinosarcoma TCGA-UCSTCGA

57 cases with simple somatic mutation data · 57 cases total · Data Release 46.0 · mapped to Uterine Carcinosarcoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	52	57	91.2%	gdc
2	PIK3CA	Ssm	46	57	80.7%	gdc
3	MELTF	Ssm	46	57	80.7%	gdc
9	MB21D2	Ssm	45	57	78.9%	gdc
4	SENP5	Ssm	45	57	78.9%	gdc
5	LAMA5	Ssm	45	57	78.9%	gdc
6	ADRM1	Ssm	45	57	78.9%	gdc
7	ATP13A5	Ssm	45	57	78.9%	gdc
8	YEATS2	Ssm	45	57	78.9%	gdc
10	ATP13A4	Ssm	45	57	78.9%	gdc
11	RNF168	Ssm	45	57	78.9%	gdc
12	FGF12	Ssm	45	57	78.9%	gdc
13	MUC4	Ssm	45	57	78.9%	gdc
14	EEF1AKMT4-ECE2	Ssm	45	57	78.9%	gdc
15	APOD	Ssm	45	57	78.9%	gdc
16	TRA2B	Ssm	45	57	78.9%	gdc
17	OSTN	Ssm	45	57	78.9%	gdc
18	GATA5	Ssm	45	57	78.9%	gdc
19	FBXO45	Ssm	45	57	78.9%	gdc
20	OPA1	Ssm	45	57	78.9%	gdc
21	PSMA7	Ssm	45	57	78.9%	gdc
26	TNK2	Ssm	44	57	77.2%	gdc
30	OSBPL2	Ssm	44	57	77.2%	gdc
22	SS18L1	Ssm	44	57	77.2%	gdc
29	RBBP8NL	Ssm	44	57	77.2%	gdc
23	PIGX	Ssm	44	57	77.2%	gdc
24	DVL3	Ssm	44	57	77.2%	gdc
25	NCBP2AS2	Ssm	44	57	77.2%	gdc
27	SLC51A	Ssm	44	57	77.2%	gdc
28	AHSG	Ssm	44	57	77.2%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Uterine Carcinosarcoma (Johns Hopkins, Nat Commun 2014) ucs_jhu_2014Johns Hopkins

22 cases with simple somatic mutation data · 22 cases total · 2026-01-16 · mapped to Uterine Malignant Mixed Mesodermal (Mullerian) Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	16	22	72.7%	cbioportal
3	PTEN	Ssm	9	22	40.9%	cbioportal
2	PIK3CA	Ssm	9	22	40.9%	cbioportal
4	ARID1A	Ssm	8	22	36.4%	cbioportal
6	KRAS	Ssm	6	22	27.3%	cbioportal
8	TTN	Ssm	6	22	27.3%	cbioportal
5	KMT2C	Ssm	6	22	27.3%	cbioportal
7	PXDNL	Ssm	6	22	27.3%	cbioportal
22	SPTBN5	Ssm	5	22	22.7%	cbioportal
24	URB1	Ssm	5	22	22.7%	cbioportal
9	APOB	Ssm	5	22	22.7%	cbioportal
10	BCOR	Ssm	5	22	22.7%	cbioportal
11	BLTP1	Ssm	5	22	22.7%	cbioportal
12	CDHR3	Ssm	5	22	22.7%	cbioportal
13	CNTNAP2	Ssm	5	22	22.7%	cbioportal
14	FAM135B	Ssm	5	22	22.7%	cbioportal
15	FBXW7	Ssm	5	22	22.7%	cbioportal
16	HMCN1	Ssm	5	22	22.7%	cbioportal
17	LRP2	Ssm	5	22	22.7%	cbioportal
18	LTBP2	Ssm	5	22	22.7%	cbioportal
19	MDN1	Ssm	5	22	22.7%	cbioportal
20	PLEC	Ssm	5	22	22.7%	cbioportal
21	SPEG	Ssm	5	22	22.7%	cbioportal
23	TRRAP	Ssm	5	22	22.7%	cbioportal
26	ABI3BP	Ssm	4	22	18.2%	cbioportal
29	ADGRG4	Ssm	4	22	18.2%	cbioportal
28	ADGRF4	Ssm	4	22	18.2%	cbioportal
27	ADAMTSL4	Ssm	4	22	18.2%	cbioportal
25	A2M	Ssm	4	22	18.2%	cbioportal
163	UBR5	Ssm	4	22	18.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Uterine Carcinosarcoma (TCGA, Firehose Legacy) ucs_tcgaTCGA

57 cases with simple somatic mutation data · 57 cases total · 2026-01-13 · mapped to Uterine Malignant Mixed Mesodermal (Mullerian) Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	52	57	91.2%	cbioportal
2	FBXW7	Ssm	22	57	38.6%	cbioportal
3	FRG1BP	Ssm	21	57	36.8%	cbioportal
4	PIK3CA	Ssm	20	57	35.1%	cbioportal
5	PPP2R1A	Ssm	16	57	28.1%	cbioportal
6	MUC4	Ssm	13	57	22.8%	cbioportal
7	PTEN	Ssm	11	57	19.3%	cbioportal
9	TTN	Ssm	10	57	17.5%	cbioportal
8	CHD4	Ssm	10	57	17.5%	cbioportal
10	ARID1A	Ssm	8	57	14%	cbioportal
12	LRP1B	Ssm	7	57	12.3%	cbioportal
13	MUC17	Ssm	7	57	12.3%	cbioportal
11	KRAS	Ssm	7	57	12.3%	cbioportal
21	SYNE1	Ssm	6	57	10.5%	cbioportal
23	ZBTB7B	Ssm	6	57	10.5%	cbioportal
24	ZNF814	Ssm	6	57	10.5%	cbioportal
16	KMT2D	Ssm	6	57	10.5%	cbioportal
14	ARHGAP35	Ssm	6	57	10.5%	cbioportal
15	FLNA	Ssm	6	57	10.5%	cbioportal
17	MGAM	Ssm	6	57	10.5%	cbioportal
18	MUC16	Ssm	6	57	10.5%	cbioportal
19	PIK3R1	Ssm	6	57	10.5%	cbioportal
20	RB1	Ssm	6	57	10.5%	cbioportal
22	VPS13B	Ssm	6	57	10.5%	cbioportal
25	ATP4A	Ssm	5	57	8.8%	cbioportal
30	LRP2	Ssm	5	57	8.8%	cbioportal
29	FLG	Ssm	5	57	8.8%	cbioportal
28	FER1L6	Ssm	5	57	8.8%	cbioportal
27	FCGBP	Ssm	5	57	8.8%	cbioportal
26	DOP1A	Ssm	5	57	8.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Uterine Carcinosarcoma (TCGA, PanCancer Atlas) ucs_tcga_pan_can_atlas_2018TCGA

57 cases with simple somatic mutation data · 57 cases total · 2026-06-05 · mapped to Uterine Malignant Mixed Mesodermal (Mullerian) Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	52	57	91.2%	cbioportal
2	FBXW7	Ssm	22	57	38.6%	cbioportal
3	PIK3CA	Ssm	20	57	35.1%	cbioportal
4	PPP2R1A	Ssm	16	57	28.1%	cbioportal
5	PTEN	Ssm	11	57	19.3%	cbioportal
6	TTN	Ssm	11	57	19.3%	cbioportal
7	CHD4	Ssm	10	57	17.5%	cbioportal
9	KRAS	Ssm	7	57	12.3%	cbioportal
8	ARID1A	Ssm	7	57	12.3%	cbioportal
13	KMT2D	Ssm	6	57	10.5%	cbioportal
19	ZBTB7B	Ssm	6	57	10.5%	cbioportal
12	FLNA	Ssm	6	57	10.5%	cbioportal
14	MGAM	Ssm	6	57	10.5%	cbioportal
15	MUC16	Ssm	6	57	10.5%	cbioportal
16	PIK3R1	Ssm	6	57	10.5%	cbioportal
17	SYNE1	Ssm	6	57	10.5%	cbioportal
18	VPS13B	Ssm	6	57	10.5%	cbioportal
10	AHNAK	Ssm	6	57	10.5%	cbioportal
11	ARHGAP35	Ssm	6	57	10.5%	cbioportal
23	LRP1B	Ssm	5	57	8.8%	cbioportal
21	FER1L6	Ssm	5	57	8.8%	cbioportal
26	RB1	Ssm	5	57	8.8%	cbioportal
25	MUC17	Ssm	5	57	8.8%	cbioportal
20	DOP1A	Ssm	5	57	8.8%	cbioportal
24	LRP2	Ssm	5	57	8.8%	cbioportal
22	FLG	Ssm	5	57	8.8%	cbioportal
58	TPTE	Ssm	4	57	7%	cbioportal
54	RYR2	Ssm	4	57	7%	cbioportal
55	SI	Ssm	4	57	7%	cbioportal
57	TMPRSS15	Ssm	4	57	7%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor (TCGA GDC, 2025) ucs_tcga_gdcTCGA GDC

57 cases with simple somatic mutation data · 57 cases total · 2026-01-14 · mapped to Uterine Malignant Mixed Mesodermal (Mullerian) Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	49	57	86%	cbioportal
2	FBXW7	Ssm	22	57	38.6%	cbioportal
3	PIK3CA	Ssm	20	57	35.1%	cbioportal
4	PPP2R1A	Ssm	16	57	28.1%	cbioportal
5	PTEN	Ssm	11	57	19.3%	cbioportal
6	CHD4	Ssm	10	57	17.5%	cbioportal
7	PIK3R1	Ssm	9	57	15.8%	cbioportal
8	ARID1A	Ssm	7	57	12.3%	cbioportal
10	TTN	Ssm	7	57	12.3%	cbioportal
9	KRAS	Ssm	7	57	12.3%	cbioportal
16	MGAM	Ssm	6	57	10.5%	cbioportal
15	LRP2	Ssm	6	57	10.5%	cbioportal
11	AHNAK	Ssm	6	57	10.5%	cbioportal
12	ARHGAP35	Ssm	6	57	10.5%	cbioportal
14	KMT2D	Ssm	6	57	10.5%	cbioportal
13	FLNA	Ssm	6	57	10.5%	cbioportal
18	ZBTB7B	Ssm	6	57	10.5%	cbioportal
17	SYNE1	Ssm	6	57	10.5%	cbioportal
19	DOP1A	Ssm	5	57	8.8%	cbioportal
20	MUC16	Ssm	5	57	8.8%	cbioportal
21	MUC17	Ssm	5	57	8.8%	cbioportal
22	RB1	Ssm	5	57	8.8%	cbioportal
23	VPS13B	Ssm	5	57	8.8%	cbioportal
28	CUBN	Ssm	4	57	7%	cbioportal
27	COPB1	Ssm	4	57	7%	cbioportal
26	BRWD1	Ssm	4	57	7%	cbioportal
25	ADAMTSL1	Ssm	4	57	7%	cbioportal
29	DNAH2	Ssm	4	57	7%	cbioportal
30	DPP10	Ssm	4	57	7%	cbioportal
24	ABCA12	Ssm	4	57	7%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Uterine Clear Cell Carcinoma (NIH, Cancer 2017) uccc_nih_2017NIH

16 cases with simple somatic mutation data · 16 cases total · 2026-01-13 · mapped to Human Papillomavirus-Independent Cervical Adenocarcinoma, Clear Cell-Type EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	7	16	43.8%	cbioportal
2	KMT2C	Ssm	5	16	31.3%	cbioportal
3	TAF1	Ssm	4	16	25%	cbioportal
4	ZNF717	Ssm	4	16	25%	cbioportal
6	FAM136A	Ssm	3	16	18.8%	cbioportal
5	AGAP4	Ssm	3	16	18.8%	cbioportal
7	PIK3CA	Ssm	3	16	18.8%	cbioportal
23	DYSF	Ssm	2	16	12.5%	cbioportal
24	EPC2	Ssm	2	16	12.5%	cbioportal
19	DMAP1	Ssm	2	16	12.5%	cbioportal
18	DENND4A	Ssm	2	16	12.5%	cbioportal
17	COL5A1	Ssm	2	16	12.5%	cbioportal
16	COIL	Ssm	2	16	12.5%	cbioportal
15	CHRM5	Ssm	2	16	12.5%	cbioportal
14	CHL1	Ssm	2	16	12.5%	cbioportal
13	CCDC178	Ssm	2	16	12.5%	cbioportal
12	ASTE1	Ssm	2	16	12.5%	cbioportal
11	ARID1A	Ssm	2	16	12.5%	cbioportal
10	AP3D1	Ssm	2	16	12.5%	cbioportal
9	AHNAK2	Ssm	2	16	12.5%	cbioportal
8	ABCD1	Ssm	2	16	12.5%	cbioportal
21	DNAH3	Ssm	2	16	12.5%	cbioportal
26	FAT3	Ssm	2	16	12.5%	cbioportal
22	DST	Ssm	2	16	12.5%	cbioportal
20	DNAH11	Ssm	2	16	12.5%	cbioportal
27	FOXA2	Ssm	2	16	12.5%	cbioportal
30	GART	Ssm	2	16	12.5%	cbioportal
29	FRG2C	Ssm	2	16	12.5%	cbioportal
28	FRG1	Ssm	2	16	12.5%	cbioportal
25	ERBB3	Ssm	2	16	12.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Uterine Corpus Endometrial Carcinoma TCGA-UCECTCGA

559 cases with simple somatic mutation data · 560 cases total · Data Release 46.0 · mapped to Endometrial Carcinoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	418	559	74.8%	gdc
2	PIK3CA	Ssm	349	559	62.4%	gdc
3	ARID1A	Ssm	319	559	57.1%	gdc
4	TTN	Ssm	297	559	53.1%	gdc
5	OBSCN	Ssm	296	559	53%	gdc
6	RYR2	Ssm	291	559	52.1%	gdc
7	ASH1L	Ssm	289	559	51.7%	gdc
8	USH2A	Ssm	286	559	51.2%	gdc
9	FLG	Ssm	283	559	50.6%	gdc
10	CACNA1E	Ssm	281	559	50.3%	gdc
11	HMCN1	Ssm	278	559	49.7%	gdc
12	CSMD3	Ssm	277	559	49.6%	gdc
13	HRNR	Ssm	277	559	49.6%	gdc
14	CEP350	Ssm	277	559	49.6%	gdc
15	CTCF	Ssm	276	559	49.4%	gdc
18	ZFHX3	Ssm	275	559	49.2%	gdc
17	ASPM	Ssm	275	559	49.2%	gdc
16	GON4L	Ssm	275	559	49.2%	gdc
19	NFASC	Ssm	271	559	48.5%	gdc
20	CSMD1	Ssm	270	559	48.3%	gdc
21	PDE4DIP	Ssm	269	559	48.1%	gdc
23	INSRR	Ssm	269	559	48.1%	gdc
22	SPTA1	Ssm	269	559	48.1%	gdc
24	SETDB1	Ssm	267	559	47.8%	gdc
25	F5	Ssm	266	559	47.6%	gdc
27	COPA	Ssm	266	559	47.6%	gdc
26	MUC16	Ssm	266	559	47.6%	gdc
28	PRRC2C	Ssm	265	559	47.4%	gdc
29	ARHGEF2	Ssm	265	559	47.4%	gdc
30	LYST	Ssm	264	559	47.2%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Uterine Corpus Endometrial Carcinoma (TCGA, Firehose Legacy) ucec_tcgaTCGA

248 cases with simple somatic mutation data · 549 cases total · 2026-01-13 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	161	248	64.9%	cbioportal
2	PIK3CA	Ssm	132	248	53.2%	cbioportal
3	ARID1A	Ssm	83	248	33.5%	cbioportal
4	PIK3R1	Ssm	82	248	33.1%	cbioportal
5	TTN	Ssm	79	248	31.9%	cbioportal
6	CTNNB1	Ssm	74	248	29.8%	cbioportal
7	TP53	Ssm	69	248	27.8%	cbioportal
8	KRAS	Ssm	52	248	21%	cbioportal
9	MUC16	Ssm	48	248	19.4%	cbioportal
10	CSMD3	Ssm	47	248	19%	cbioportal
11	CTCF	Ssm	45	248	18.1%	cbioportal
12	ZFHX3	Ssm	44	248	17.7%	cbioportal
13	MUC5B	Ssm	43	248	17.3%	cbioportal
14	RYR2	Ssm	41	248	16.5%	cbioportal
15	FAT1	Ssm	40	248	16.1%	cbioportal
16	FAT4	Ssm	40	248	16.1%	cbioportal
17	OBSCN	Ssm	39	248	15.7%	cbioportal
18	DMD	Ssm	38	248	15.3%	cbioportal
19	FBXW7	Ssm	38	248	15.3%	cbioportal
20	NEB	Ssm	37	248	14.9%	cbioportal
21	ARHGAP35	Ssm	36	248	14.5%	cbioportal
23	ZFHX4	Ssm	36	248	14.5%	cbioportal
22	FAT3	Ssm	36	248	14.5%	cbioportal
24	CHD4	Ssm	35	248	14.1%	cbioportal
25	DNAH5	Ssm	35	248	14.1%	cbioportal
26	TAF1	Ssm	35	248	14.1%	cbioportal
27	USH2A	Ssm	35	248	14.1%	cbioportal
28	RYR3	Ssm	34	248	13.7%	cbioportal
30	DNAH10	Ssm	33	248	13.3%	cbioportal
29	ANK3	Ssm	33	248	13.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Uterine Corpus Endometrial Carcinoma (TCGA, Nature 2013) ucec_tcga_pubTCGA

248 cases with simple somatic mutation data · 373 cases total · 2026-01-16 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	161	248	64.9%	cbioportal
2	PIK3CA	Ssm	132	248	53.2%	cbioportal
3	ARID1A	Ssm	83	248	33.5%	cbioportal
4	PIK3R1	Ssm	81	248	32.7%	cbioportal
5	TTN	Ssm	79	248	31.9%	cbioportal
6	CTNNB1	Ssm	74	248	29.8%	cbioportal
7	TP53	Ssm	69	248	27.8%	cbioportal
8	KRAS	Ssm	52	248	21%	cbioportal
9	MUC16	Ssm	48	248	19.4%	cbioportal
10	CSMD3	Ssm	47	248	19%	cbioportal
11	CTCF	Ssm	45	248	18.1%	cbioportal
12	ZFHX3	Ssm	44	248	17.7%	cbioportal
13	MUC5B	Ssm	43	248	17.3%	cbioportal
14	RYR2	Ssm	41	248	16.5%	cbioportal
16	FAT4	Ssm	40	248	16.1%	cbioportal
15	FAT1	Ssm	40	248	16.1%	cbioportal
17	OBSCN	Ssm	39	248	15.7%	cbioportal
18	DMD	Ssm	38	248	15.3%	cbioportal
19	FBXW7	Ssm	38	248	15.3%	cbioportal
20	NEB	Ssm	37	248	14.9%	cbioportal
23	ZFHX4	Ssm	36	248	14.5%	cbioportal
21	ARHGAP35	Ssm	36	248	14.5%	cbioportal
22	FAT3	Ssm	36	248	14.5%	cbioportal
25	DNAH5	Ssm	35	248	14.1%	cbioportal
24	CHD4	Ssm	35	248	14.1%	cbioportal
26	TAF1	Ssm	35	248	14.1%	cbioportal
27	USH2A	Ssm	35	248	14.1%	cbioportal
28	RYR3	Ssm	34	248	13.7%	cbioportal
29	ANK3	Ssm	33	248	13.3%	cbioportal
30	DNAH10	Ssm	33	248	13.3%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Uterine Corpus Endometrial Carcinoma (TCGA, PanCancer Atlas) ucec_tcga_pan_can_atlas_2018TCGA

517 cases with simple somatic mutation data · 529 cases total · 2026-06-04 · mapped to Endometrial Carcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	337	517	65.2%	cbioportal
2	PIK3CA	Ssm	259	517	50.1%	cbioportal
3	ARID1A	Ssm	227	517	43.9%	cbioportal
4	TTN	Ssm	206	517	39.8%	cbioportal
5	TP53	Ssm	193	517	37.3%	cbioportal
6	PIK3R1	Ssm	159	517	30.8%	cbioportal
7	KMT2D	Ssm	143	517	27.7%	cbioportal
8	MUC16	Ssm	142	517	27.5%	cbioportal
9	CTNNB1	Ssm	133	517	25.7%	cbioportal
10	CTCF	Ssm	127	517	24.6%	cbioportal
11	RYR2	Ssm	125	517	24.2%	cbioportal
12	ZFHX3	Ssm	123	517	23.8%	cbioportal
13	CSMD3	Ssm	122	517	23.6%	cbioportal
15	OBSCN	Ssm	117	517	22.6%	cbioportal
14	MUC5B	Ssm	117	517	22.6%	cbioportal
16	SYNE1	Ssm	114	517	22.1%	cbioportal
18	KMT2B	Ssm	113	517	21.9%	cbioportal
17	CHD4	Ssm	113	517	21.9%	cbioportal
19	FLG	Ssm	112	517	21.7%	cbioportal
20	MACF1	Ssm	109	517	21.1%	cbioportal
21	ZFHX4	Ssm	109	517	21.1%	cbioportal
22	FAT4	Ssm	108	517	20.9%	cbioportal
23	NEB	Ssm	106	517	20.5%	cbioportal
24	USH2A	Ssm	105	517	20.3%	cbioportal
25	TAF1	Ssm	104	517	20.1%	cbioportal
26	ARHGAP35	Ssm	103	517	19.9%	cbioportal
28	DNAH7	Ssm	103	517	19.9%	cbioportal
27	DMD	Ssm	103	517	19.9%	cbioportal
29	FAT1	Ssm	103	517	19.9%	cbioportal
30	PCLO	Ssm	102	517	19.7%	cbioportal

Data updated 22 days agoSource updated 2026-06-04

Uterine Endometrioid Carcinoma (CPTAC GDC, 2025) uec_cptac_gdcCPTAC GDC

247 cases with simple somatic mutation data · 442 cases total · 2026-01-14 · mapped to Endometrial Endometrioid Adenocarcinoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTEN	Ssm	194	247	78.5%	cbioportal
2	ARID1A	Ssm	136	247	55.1%	cbioportal
3	PIK3CA	Ssm	105	247	42.5%	cbioportal
4	PIK3R1	Ssm	91	247	36.8%	cbioportal
5	TTN	Ssm	89	247	36%	cbioportal
6	CTNNB1	Ssm	71	247	28.7%	cbioportal
7	KRAS	Ssm	67	247	27.1%	cbioportal
8	OBSCN	Ssm	65	247	26.3%	cbioportal
9	KMT2B	Ssm	62	247	25.1%	cbioportal
12	TP53	Ssm	61	247	24.7%	cbioportal
10	INPPL1	Ssm	61	247	24.7%	cbioportal
11	KMT2D	Ssm	61	247	24.7%	cbioportal
13	CTCF	Ssm	56	247	22.7%	cbioportal
14	SYNE1	Ssm	54	247	21.9%	cbioportal
15	ZFHX3	Ssm	54	247	21.9%	cbioportal
16	PCLO	Ssm	51	247	20.6%	cbioportal
17	MUC16	Ssm	49	247	19.8%	cbioportal
18	MUC5B	Ssm	48	247	19.4%	cbioportal
19	FSIP2	Ssm	47	247	19%	cbioportal
20	CSMD3	Ssm	46	247	18.6%	cbioportal
22	ZFHX4	Ssm	45	247	18.2%	cbioportal
21	RYR1	Ssm	45	247	18.2%	cbioportal
24	RYR2	Ssm	43	247	17.4%	cbioportal
23	JAK1	Ssm	43	247	17.4%	cbioportal
25	DNAH5	Ssm	42	247	17%	cbioportal
26	CHD4	Ssm	41	247	16.6%	cbioportal
27	FAT3	Ssm	41	247	16.6%	cbioportal
28	HERC2	Ssm	41	247	16.6%	cbioportal
29	DNAH17	Ssm	40	247	16.2%	cbioportal
30	FBXW7	Ssm	40	247	16.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Uterine Sarcoma/Mesenchymal (MSK, Clin Cancer Res 2020) usarc_msk_2020MSK

108 cases with simple somatic mutation data · 108 cases total · 2026-01-19 · mapped to Uterine Corpus Sarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	40	108	37%	cbioportal
2	ATRX	Ssm	25	108	23.1%	cbioportal
3	RB1	Ssm	12	108	11.1%	cbioportal
4	MED12	Ssm	11	108	10.2%	cbioportal
5	BRCA2	Ssm	7	108	6.5%	cbioportal
7	PTEN	Ssm	6	108	5.6%	cbioportal
6	FAT1	Ssm	6	108	5.6%	cbioportal
145	TEK	Ssm	1	20	5%	cbioportal
130	PPARG	Ssm	1	20	5%	cbioportal
57	AGO2	Ssm	1	20	5%	cbioportal
9	ROS1	Ssm	5	108	4.6%	cbioportal
8	AR	Ssm	5	108	4.6%	cbioportal
13	PDGFRB	Ssm	4	108	3.7%	cbioportal
14	PIK3CA	Ssm	4	108	3.7%	cbioportal
12	NSD1	Ssm	4	108	3.7%	cbioportal
10	ARID2	Ssm	4	108	3.7%	cbioportal
11	KDR	Ssm	4	108	3.7%	cbioportal
22	MET	Ssm	3	108	2.8%	cbioportal
24	TERT	Ssm	3	108	2.8%	cbioportal
23	NF1	Ssm	3	108	2.8%	cbioportal
21	KMT2A	Ssm	3	108	2.8%	cbioportal
15	ARID1A	Ssm	3	108	2.8%	cbioportal
16	ASXL1	Ssm	3	108	2.8%	cbioportal
20	ERBB4	Ssm	3	108	2.8%	cbioportal
17	BRD4	Ssm	3	108	2.8%	cbioportal
18	CARD11	Ssm	3	108	2.8%	cbioportal
19	DAXX	Ssm	3	108	2.8%	cbioportal
33	CREBBP	Ssm	2	108	1.9%	cbioportal
34	CTNNB1	Ssm	2	108	1.9%	cbioportal
31	CDC73	Ssm	2	108	1.9%	cbioportal

Data updated 22 days agoSource updated 2026-01-19

Uveal Melanoma TCGA-UVMTCGA

80 cases with simple somatic mutation data · 80 cases total · Data Release 46.0 · mapped to Uveal Melanoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CCN4	Ssm	62	80	77.5%	gdc
2	SLC45A4	Ssm	61	80	76.3%	gdc
7	DEPTOR	Ssm	60	80	75%	gdc
6	MTBP	Ssm	60	80	75%	gdc
23	TRIB1	Ssm	60	80	75%	gdc
24	PHF20L1	Ssm	60	80	75%	gdc
30	EIF3H	Ssm	60	80	75%	gdc
27	HAS2	Ssm	60	80	75%	gdc
28	DERL1	Ssm	60	80	75%	gdc
29	NSMCE2	Ssm	60	80	75%	gdc
26	SLC30A8	Ssm	60	80	75%	gdc
21	AC138647.1	Ssm	60	80	75%	gdc
20	TRAPPC9	Ssm	60	80	75%	gdc
19	GSDMC	Ssm	60	80	75%	gdc
18	EXT1	Ssm	60	80	75%	gdc
17	POU5F1B	Ssm	60	80	75%	gdc
16	NTAQ1	Ssm	60	80	75%	gdc
15	MYC	Ssm	60	80	75%	gdc
14	FAM91A1	Ssm	60	80	75%	gdc
13	RAD21	Ssm	60	80	75%	gdc
12	KCNK9	Ssm	60	80	75%	gdc
11	TNFRSF11B	Ssm	60	80	75%	gdc
10	KHDRBS3	Ssm	60	80	75%	gdc
9	COL22A1	Ssm	60	80	75%	gdc
8	EFR3A	Ssm	60	80	75%	gdc
4	NDRG1	Ssm	60	80	75%	gdc
3	GRHL2	Ssm	60	80	75%	gdc
22	ADCY8	Ssm	60	80	75%	gdc
25	ASAP1	Ssm	60	80	75%	gdc
5	AGO2	Ssm	60	80	75%	gdc

Data updated 23 days agoSource updated Data Release 46.0

Uveal Melanoma (QIMR, Oncotarget 2016) um_qimr_2016QIMR

26 cases with simple somatic mutation data · 28 cases total · 2026-01-16 · mapped to Uveal Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNA11	Ssm	15	26	57.7%	cbioportal
2	BAP1	Ssm	11	26	42.3%	cbioportal
3	GNAQ	Ssm	8	26	30.8%	cbioportal
4	EIF1AX	Ssm	4	26	15.4%	cbioportal
5	SF3B1	Ssm	3	26	11.5%	cbioportal
6	LLGL1	Ssm	2	26	7.7%	cbioportal
8	TCHH	Ssm	2	26	7.7%	cbioportal
9	TTN	Ssm	2	26	7.7%	cbioportal
7	PLCB4	Ssm	2	26	7.7%	cbioportal
137	MYOF	Ssm	1	26	3.8%	cbioportal
14	ADAM18	Ssm	1	26	3.8%	cbioportal
15	ADAM8	Ssm	1	26	3.8%	cbioportal
16	ADAMTS18	Ssm	1	26	3.8%	cbioportal
17	ADAMTS9	Ssm	1	26	3.8%	cbioportal
18	AGAP3	Ssm	1	26	3.8%	cbioportal
19	AKAP1	Ssm	1	26	3.8%	cbioportal
20	AMBRA1	Ssm	1	26	3.8%	cbioportal
21	ANXA4	Ssm	1	26	3.8%	cbioportal
22	APBB1	Ssm	1	26	3.8%	cbioportal
23	APOA4	Ssm	1	26	3.8%	cbioportal
24	ARAP3	Ssm	1	26	3.8%	cbioportal
25	ARHGAP32	Ssm	1	26	3.8%	cbioportal
26	ARVCF	Ssm	1	26	3.8%	cbioportal
27	ASIC1	Ssm	1	26	3.8%	cbioportal
28	ASIC2	Ssm	1	26	3.8%	cbioportal
13	ACACB	Ssm	1	26	3.8%	cbioportal
29	AXIN1	Ssm	1	26	3.8%	cbioportal
10	A2ML1	Ssm	1	26	3.8%	cbioportal
11	AANAT	Ssm	1	26	3.8%	cbioportal
12	ABCB9	Ssm	1	26	3.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Uveal Melanoma (TCGA, Firehose Legacy) uvm_tcgaTCGA

80 cases with simple somatic mutation data · 80 cases total · 2026-01-13 · mapped to Uveal Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNAQ	Ssm	40	80	50%	cbioportal
2	GNA11	Ssm	36	80	45%	cbioportal
3	BAP1	Ssm	26	80	32.5%	cbioportal
4	SF3B1	Ssm	18	80	22.5%	cbioportal
5	EIF1AX	Ssm	10	80	12.5%	cbioportal
6	MUC16	Ssm	5	80	6.3%	cbioportal
7	TTN	Ssm	5	80	6.3%	cbioportal
8	COL14A1	Ssm	3	80	3.8%	cbioportal
9	CSMD3	Ssm	3	80	3.8%	cbioportal
10	CYSLTR2	Ssm	3	80	3.8%	cbioportal
11	MYOF	Ssm	3	80	3.8%	cbioportal
12	PKHD1L1	Ssm	3	80	3.8%	cbioportal
13	PLCB2	Ssm	3	80	3.8%	cbioportal
14	RYR2	Ssm	3	80	3.8%	cbioportal
15	SRSF2	Ssm	3	80	3.8%	cbioportal
20	C3	Ssm	2	80	2.5%	cbioportal
26	CDH4	Ssm	2	80	2.5%	cbioportal
16	ABR	Ssm	2	80	2.5%	cbioportal
17	ADAMTSL1	Ssm	2	80	2.5%	cbioportal
18	APC	Ssm	2	80	2.5%	cbioportal
19	ARHGEF17	Ssm	2	80	2.5%	cbioportal
21	CACNA1B	Ssm	2	80	2.5%	cbioportal
22	CACNA1D	Ssm	2	80	2.5%	cbioportal
23	CACNA2D1	Ssm	2	80	2.5%	cbioportal
24	CADM3	Ssm	2	80	2.5%	cbioportal
25	CCN4	Ssm	2	80	2.5%	cbioportal
27	CEMIP2	Ssm	2	80	2.5%	cbioportal
28	CENPE	Ssm	2	80	2.5%	cbioportal
29	CEP131	Ssm	2	80	2.5%	cbioportal
30	CFAP52	Ssm	2	80	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Uveal Melanoma (TCGA GDC, 2025) um_tcga_gdcTCGA GDC

80 cases with simple somatic mutation data · 80 cases total · 2026-01-14 · mapped to Uveal Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNAQ	Ssm	39	80	48.8%	cbioportal
2	GNA11	Ssm	35	80	43.8%	cbioportal
3	SF3B1	Ssm	18	80	22.5%	cbioportal
4	BAP1	Ssm	16	80	20%	cbioportal
5	EIF1AX	Ssm	10	80	12.5%	cbioportal
6	TTN	Ssm	4	80	5%	cbioportal
9	MACF1	Ssm	3	80	3.8%	cbioportal
11	MYOF	Ssm	3	80	3.8%	cbioportal
10	MUC16	Ssm	3	80	3.8%	cbioportal
12	PKHD1L1	Ssm	3	80	3.8%	cbioportal
7	COL14A1	Ssm	3	80	3.8%	cbioportal
13	SRSF2	Ssm	3	80	3.8%	cbioportal
8	CYSLTR2	Ssm	3	80	3.8%	cbioportal
44	MYO15A	Ssm	2	80	2.5%	cbioportal
43	MYBPC2	Ssm	2	80	2.5%	cbioportal
37	KIR2DL4	Ssm	2	80	2.5%	cbioportal
38	LAMA1	Ssm	2	80	2.5%	cbioportal
39	LRP1B	Ssm	2	80	2.5%	cbioportal
40	MAP3K19	Ssm	2	80	2.5%	cbioportal
41	MC2R	Ssm	2	80	2.5%	cbioportal
42	MUC4	Ssm	2	80	2.5%	cbioportal
32	GNB1	Ssm	2	80	2.5%	cbioportal
33	HDAC5	Ssm	2	80	2.5%	cbioportal
34	HHAT	Ssm	2	80	2.5%	cbioportal
35	HUWE1	Ssm	2	80	2.5%	cbioportal
36	KCNH5	Ssm	2	80	2.5%	cbioportal
46	PLCB2	Ssm	2	80	2.5%	cbioportal
45	PCDHB7	Ssm	2	80	2.5%	cbioportal
30	GLIS3	Ssm	2	80	2.5%	cbioportal
31	GMEB2	Ssm	2	80	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Uveal Melanoma (TCGA, PanCancer Atlas) uvm_tcga_pan_can_atlas_2018TCGA

80 cases with simple somatic mutation data · 80 cases total · 2026-06-05 · mapped to Uveal Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNAQ	Ssm	40	80	50%	cbioportal
2	GNA11	Ssm	36	80	45%	cbioportal
3	SF3B1	Ssm	18	80	22.5%	cbioportal
4	BAP1	Ssm	13	80	16.3%	cbioportal
5	EIF1AX	Ssm	10	80	12.5%	cbioportal
7	TTN	Ssm	4	80	5%	cbioportal
6	MUC16	Ssm	4	80	5%	cbioportal
11	MACF1	Ssm	3	80	3.8%	cbioportal
8	COL14A1	Ssm	3	80	3.8%	cbioportal
9	CSMD3	Ssm	3	80	3.8%	cbioportal
10	CYSLTR2	Ssm	3	80	3.8%	cbioportal
12	MYOF	Ssm	3	80	3.8%	cbioportal
13	PKHD1L1	Ssm	3	80	3.8%	cbioportal
14	SRSF2	Ssm	3	80	3.8%	cbioportal
30	DSCAML1	Ssm	2	80	2.5%	cbioportal
28	DEPDC5	Ssm	2	80	2.5%	cbioportal
27	COL9A2	Ssm	2	80	2.5%	cbioportal
22	CEMIP2	Ssm	2	80	2.5%	cbioportal
21	CDH4	Ssm	2	80	2.5%	cbioportal
20	CCN4	Ssm	2	80	2.5%	cbioportal
19	CACNA1D	Ssm	2	80	2.5%	cbioportal
18	C3	Ssm	2	80	2.5%	cbioportal
17	ARHGEF17	Ssm	2	80	2.5%	cbioportal
16	APC	Ssm	2	80	2.5%	cbioportal
15	ADAMTSL1	Ssm	2	80	2.5%	cbioportal
29	DNAH17	Ssm	2	80	2.5%	cbioportal
26	CNTN5	Ssm	2	80	2.5%	cbioportal
25	CFAP52	Ssm	2	80	2.5%	cbioportal
24	CEP131	Ssm	2	80	2.5%	cbioportal
23	CENPE	Ssm	2	80	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

Well-Differentiated and Dedifferentiated Liposarcoma Histologic Subvariants (MSK, 2024) lipo_msk_2024MSK

140 cases with simple somatic mutation data · 140 cases total · 2026-01-20 · mapped to Liposarcoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	ATRX	Ssm	8	140	5.7%	cbioportal
2	PIK3CG	Ssm	4	140	2.9%	cbioportal
5	TP53	Ssm	3	140	2.1%	cbioportal
4	ROS1	Ssm	3	140	2.1%	cbioportal
3	ERBB4	Ssm	3	140	2.1%	cbioportal
21	UPF1	Ssm	2	133	1.5%	cbioportal
12	KMT2B	Ssm	2	133	1.5%	cbioportal
16	MST1R	Ssm	2	138	1.4%	cbioportal
15	MGA	Ssm	2	138	1.4%	cbioportal
25	ATXN7	Ssm	1	70	1.4%	cbioportal
13	KMT2D	Ssm	2	140	1.4%	cbioportal
7	BRD4	Ssm	2	140	1.4%	cbioportal
18	SETD2	Ssm	2	140	1.4%	cbioportal
10	EED	Ssm	2	140	1.4%	cbioportal
17	RB1	Ssm	2	140	1.4%	cbioportal
9	DAXX	Ssm	2	140	1.4%	cbioportal
14	MED12	Ssm	2	140	1.4%	cbioportal
6	ALK	Ssm	2	140	1.4%	cbioportal
77	POT1	Ssm	1	70	1.4%	cbioportal
20	TSC2	Ssm	2	140	1.4%	cbioportal
8	CARD11	Ssm	2	140	1.4%	cbioportal
19	SMARCA4	Ssm	2	140	1.4%	cbioportal
89	SETDB1	Ssm	1	70	1.4%	cbioportal
62	MLLT1	Ssm	1	70	1.4%	cbioportal
11	IKZF1	Ssm	2	140	1.4%	cbioportal
56	KMT5A	Ssm	1	133	0.8%	cbioportal
38	EPAS1	Ssm	1	133	0.8%	cbioportal
84	RECQL	Ssm	1	133	0.8%	cbioportal
79	PTP4A1	Ssm	1	133	0.8%	cbioportal
36	CYLD	Ssm	1	133	0.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-20

Wilms' Tumor (TARGET GDC, 2025) wt_target_gdcTARGET GDC

42 cases with simple somatic mutation data · 132 cases total · 2026-01-19 · mapped to Wilms Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	13	42	31%	cbioportal
2	TTN	Ssm	4	42	9.5%	cbioportal
3	BCOR	Ssm	3	42	7.1%	cbioportal
4	ABCC11	Ssm	2	42	4.8%	cbioportal
5	ADCY5	Ssm	2	42	4.8%	cbioportal
6	AOAH	Ssm	2	42	4.8%	cbioportal
7	ASB5	Ssm	2	42	4.8%	cbioportal
8	CARD10	Ssm	2	42	4.8%	cbioportal
9	CCER1	Ssm	2	42	4.8%	cbioportal
10	CDC73	Ssm	2	42	4.8%	cbioportal
11	CHD4	Ssm	2	42	4.8%	cbioportal
12	CREBBP	Ssm	2	42	4.8%	cbioportal
13	CSMD2	Ssm	2	42	4.8%	cbioportal
14	DNHD1	Ssm	2	42	4.8%	cbioportal
15	DSCAML1	Ssm	2	42	4.8%	cbioportal
16	FAM184B	Ssm	2	42	4.8%	cbioportal
17	GTF2H3	Ssm	2	42	4.8%	cbioportal
18	KHDRBS3	Ssm	2	42	4.8%	cbioportal
19	KMT2D	Ssm	2	42	4.8%	cbioportal
20	LPCAT2	Ssm	2	42	4.8%	cbioportal
21	MAMDC4	Ssm	2	42	4.8%	cbioportal
22	MLLT1	Ssm	2	42	4.8%	cbioportal
23	MMRN2	Ssm	2	42	4.8%	cbioportal
24	MTMR3	Ssm	2	42	4.8%	cbioportal
25	RNF115	Ssm	2	42	4.8%	cbioportal
26	RUSC2	Ssm	2	42	4.8%	cbioportal
27	SHROOM2	Ssm	2	42	4.8%	cbioportal
28	SLC75A1	Ssm	2	42	4.8%	cbioportal
29	TENM1	Ssm	2	42	4.8%	cbioportal
30	TNRC18	Ssm	2	42	4.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-19