Myeloid Neoplasm — Genomics

Myeloid Neoplasm — Genomics · CancerIndex

Genomics

Gene alteration frequencies by cohort

22 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.

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

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.

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

Data updated 22 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
11	OR4N2	Ssm	15	836	1.8%	gdc
2	OR4K2	Ssm	15	836	1.8%	gdc
3	OR4M1	Ssm	15	836	1.8%	gdc
4	OR4Q3	Ssm	15	836	1.8%	gdc
5	OR11H2	Ssm	15	836	1.8%	gdc
6	OR4K1	Ssm	15	836	1.8%	gdc
7	POTEM	Ssm	15	836	1.8%	gdc
8	DOC2B	Ssm	15	836	1.8%	gdc
9	OR11H12	Ssm	15	836	1.8%	gdc
10	OR4K5	Ssm	15	836	1.8%	gdc
12	LCE3C	Ssm	14	836	1.7%	gdc
13	LCE3B	Ssm	13	836	1.6%	gdc
15	MBNL1	Ssm	12	836	1.4%	gdc
16	FRG2	Ssm	12	836	1.4%	gdc
14	FRG1	Ssm	12	836	1.4%	gdc
20	AC013394.1	Ssm	10	836	1.2%	gdc
21	LYN	Ssm	10	836	1.2%	gdc
17	ZEB2	Ssm	10	836	1.2%	gdc
18	DUSP10	Ssm	10	836	1.2%	gdc
19	CHD2	Ssm	10	836	1.2%	gdc
23	FBXO25	Ssm	9	836	1.1%	gdc
22	OR4F21	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
27	TDRP	Ssm	9	836	1.1%	gdc
28	CD44	Ssm	9	836	1.1%	gdc
29	PTPRC	Ssm	9	836	1.1%	gdc
30	JARID2	Ssm	9	836	1.1%	gdc

Data updated 22 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
17	U2AF1	Ssm	45	903	5%	cbioportal
16	CEBPA	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
6	IDH2	Ssm	74	622	11.9%	cbioportal
7	RUNX1	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
29	CSF3R	Ssm	11	622	1.8%	cbioportal
30	KIT	Ssm	11	622	1.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-05

Acute myeloid leukemia or myelodysplastic syndromes (WashU, 2016) mnm_washu_2016WashU

136 cases with simple somatic mutation data · 136 cases total · 2026-01-08 · mapped to Myeloid Neoplasm EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	32	136	23.5%	cbioportal
2	ASXL1	Ssm	21	136	15.4%	cbioportal
3	SRSF2	Ssm	19	136	14%	cbioportal
6	RUNX1	Ssm	9	71	12.7%	cbioportal
4	IDH2	Ssm	16	136	11.8%	cbioportal
9	TET2	Ssm	7	71	9.9%	cbioportal
5	DNMT3A	Ssm	11	136	8.1%	cbioportal
10	NRAS	Ssm	5	71	7%	cbioportal
7	SF3B1	Ssm	9	136	6.6%	cbioportal
8	IDH1	Ssm	8	136	5.9%	cbioportal
15	WT1	Ssm	4	71	5.6%	cbioportal
13	NPM1	Ssm	4	71	5.6%	cbioportal
12	GATA2	Ssm	4	71	5.6%	cbioportal
14	PHF6	Ssm	4	71	5.6%	cbioportal
19	STAG2	Ssm	3	71	4.2%	cbioportal
16	BCOR	Ssm	3	71	4.2%	cbioportal
17	FCGBP	Ssm	3	71	4.2%	cbioportal
18	KIT	Ssm	3	71	4.2%	cbioportal
11	U2AF1	Ssm	5	136	3.7%	cbioportal
32	NHS	Ssm	2	60	3.3%	cbioportal
20	ADAMTS17	Ssm	2	60	3.3%	cbioportal
29	KLHL1	Ssm	2	60	3.3%	cbioportal
23	DENND3	Ssm	2	60	3.3%	cbioportal
24	DMBT1	Ssm	2	60	3.3%	cbioportal
35	SETBP1	Ssm	2	71	2.8%	cbioportal
34	RUNX1T1	Ssm	2	71	2.8%	cbioportal
33	PTPRT	Ssm	2	71	2.8%	cbioportal
31	MYO5B	Ssm	2	71	2.8%	cbioportal
30	KRAS	Ssm	2	71	2.8%	cbioportal
28	JAK2	Ssm	2	71	2.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-08

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
3	FLT3	Ssm	65	584	11.1%	cbioportal
4	KIT	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
15	EZH2	Ssm	14	584	2.4%	cbioportal
14	ETV6	Ssm	14	584	2.4%	cbioportal
16	IKZF1	Ssm	14	584	2.4%	cbioportal
17	BCOR	Ssm	13	584	2.2%	cbioportal
18	IDH2	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
23	CBL	Ssm	11	584	1.9%	cbioportal
24	CCND3	Ssm	11	584	1.9%	cbioportal
25	PHF6	Ssm	11	584	1.9%	cbioportal
26	CSF3R	Ssm	10	584	1.7%	cbioportal
27	NF1	Ssm	10	584	1.7%	cbioportal
28	SRCAP	Ssm	10	584	1.7%	cbioportal
29	TRIM24	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
13	KIT	Ssm	8	197	4.1%	cbioportal
15	U2AF1	Ssm	8	197	4.1%	cbioportal
14	KRAS	Ssm	8	197	4.1%	cbioportal
17	SMC3	Ssm	7	197	3.6%	cbioportal
16	SMC1A	Ssm	7	197	3.6%	cbioportal
18	PHF6	Ssm	6	197	3%	cbioportal
20	TTN	Ssm	6	197	3%	cbioportal
19	STAG2	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
30	DIS3	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
26	CACNA1E	Ssm	3	197	1.5%	cbioportal
25	CACNA1B	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
2	DNMT3A	Ssm	5	72	6.9%	cbioportal
3	IDH2	Ssm	5	72	6.9%	cbioportal
4	TP53	Ssm	5	72	6.9%	cbioportal
5	RUNX1	Ssm	4	72	5.6%	cbioportal
10	TTN	Ssm	3	72	4.2%	cbioportal
9	KRAS	Ssm	3	72	4.2%	cbioportal
8	FLT3	Ssm	3	72	4.2%	cbioportal
7	ELF4	Ssm	3	72	4.2%	cbioportal
6	ASXL1	Ssm	3	72	4.2%	cbioportal
20	NF1	Ssm	2	72	2.8%	cbioportal
18	ITPR3	Ssm	2	72	2.8%	cbioportal
19	KIT	Ssm	2	72	2.8%	cbioportal
21	NR2E1	Ssm	2	72	2.8%	cbioportal
22	PHF6	Ssm	2	72	2.8%	cbioportal
23	PTPN11	Ssm	2	72	2.8%	cbioportal
24	SCAF8	Ssm	2	72	2.8%	cbioportal
25	STRIP2	Ssm	2	72	2.8%	cbioportal
17	DNAH11	Ssm	2	72	2.8%	cbioportal
16	CUL1	Ssm	2	72	2.8%	cbioportal
14	CALR	Ssm	2	72	2.8%	cbioportal
15	CEBPA	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
26	ABCB1	Ssm	1	72	1.4%	cbioportal
27	ADAMTS18	Ssm	1	72	1.4%	cbioportal
28	ADGRF5	Ssm	1	72	1.4%	cbioportal
29	ADGRG4	Ssm	1	72	1.4%	cbioportal
30	ADGRL4	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
15	U2AF1	Ssm	8	200	4%	cbioportal
13	KIT	Ssm	8	200	4%	cbioportal
14	KRAS	Ssm	8	200	4%	cbioportal
16	SMC1A	Ssm	7	200	3.5%	cbioportal
17	SMC3	Ssm	7	200	3.5%	cbioportal
20	TTN	Ssm	6	200	3%	cbioportal
18	PHF6	Ssm	6	200	3%	cbioportal
19	STAG2	Ssm	6	200	3%	cbioportal
21	ASXL1	Ssm	5	200	2.5%	cbioportal
22	BRINP3	Ssm	5	200	2.5%	cbioportal
23	PLCE1	Ssm	4	200	2%	cbioportal
24	RAD21	Ssm	4	200	2%	cbioportal
25	CACNA1B	Ssm	3	200	1.5%	cbioportal
26	CACNA1E	Ssm	3	200	1.5%	cbioportal
27	COL12A1	Ssm	3	200	1.5%	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

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
5	IDH1	Ssm	19	200	9.5%	cbioportal
6	RUNX1	Ssm	19	200	9.5%	cbioportal
7	TET2	Ssm	17	200	8.5%	cbioportal
8	NRAS	Ssm	16	200	8%	cbioportal
9	TP53	Ssm	16	200	8%	cbioportal
10	TTN	Ssm	14	200	7%	cbioportal
11	CEBPA	Ssm	13	200	6.5%	cbioportal
12	WT1	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
19	U2AF1	Ssm	8	200	4%	cbioportal
18	MUC16	Ssm	8	200	4%	cbioportal
21	HPS3	Ssm	7	200	3.5%	cbioportal
20	ASXL1	Ssm	7	200	3.5%	cbioportal
22	PHF6	Ssm	7	200	3.5%	cbioportal
23	SENP6	Ssm	7	200	3.5%	cbioportal
24	SMC3	Ssm	7	200	3.5%	cbioportal
37	PCLO	Ssm	6	200	3%	cbioportal
25	ABCA6	Ssm	6	200	3%	cbioportal
26	BRWD1	Ssm	6	200	3%	cbioportal
27	CSMD1	Ssm	6	200	3%	cbioportal
28	DNAH11	Ssm	6	200	3%	cbioportal
29	FREM2	Ssm	6	200	3%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

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
5	IDH1	Ssm	19	759	2.5%	gdc
6	TP53	Ssm	19	759	2.5%	gdc
7	TET2	Ssm	19	759	2.5%	gdc
8	RUNX1	Ssm	18	759	2.4%	gdc
10	CEBPA	Ssm	15	759	2%	gdc
9	WT1	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
15	GATA2	Ssm	10	759	1.3%	gdc
16	TTN	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
21	ASXL1	Ssm	7	759	0.9%	gdc
20	RAD21	Ssm	7	759	0.9%	gdc
22	SF3B1	Ssm	7	759	0.9%	gdc
27	RYR1	Ssm	6	759	0.8%	gdc
23	CSF3R	Ssm	6	759	0.8%	gdc
24	MUC16	Ssm	6	759	0.8%	gdc
26	HYDIN	Ssm	6	759	0.8%	gdc
25	SMC3	Ssm	6	759	0.8%	gdc
28	PKD1L2	Ssm	6	759	0.8%	gdc
31	SRCAP	Ssm	5	759	0.7%	gdc
30	DTD2	Ssm	5	759	0.7%	gdc

Data updated 22 days agoSource updated Data Release 46.0

Histiocytic and Dendritic Cell Neoplasms (MSK, 2025) hdcn_msk_2025MSK

1,270 cases with simple somatic mutation data · 1,270 cases total · 2026-01-20 · mapped to Histiocytic and Dendritic Cell Neoplasm EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	BRAF	Ssm	224	1,270	17.6%	cbioportal
2	MAP2K1	Ssm	113	1,270	8.9%	cbioportal
3	DNMT3A	Ssm	104	1,270	8.2%	cbioportal
4	KRAS	Ssm	102	1,270	8%	cbioportal
5	TET2	Ssm	66	1,270	5.2%	cbioportal
6	NRAS	Ssm	33	1,270	2.6%	cbioportal
7	TP53	Ssm	28	1,270	2.2%	cbioportal
9	NF1	Ssm	25	1,270	2%	cbioportal
8	ATM	Ssm	25	1,270	2%	cbioportal
10	ASXL1	Ssm	24	1,270	1.9%	cbioportal
11	CBL	Ssm	17	1,270	1.3%	cbioportal
12	GNAS	Ssm	13	1,270	1%	cbioportal
13	ARAF	Ssm	11	1,270	0.9%	cbioportal
14	CSF1R	Ssm	10	1,270	0.8%	cbioportal
15	NOTCH1	Ssm	10	1,270	0.8%	cbioportal
20	PTPN11	Ssm	8	1,270	0.6%	cbioportal
18	JAK2	Ssm	8	1,270	0.6%	cbioportal
17	CREBBP	Ssm	8	1,270	0.6%	cbioportal
16	BCOR	Ssm	8	1,270	0.6%	cbioportal
21	SF3B1	Ssm	8	1,270	0.6%	cbioportal
19	NOTCH2	Ssm	8	1,270	0.6%	cbioportal
25	NOTCH3	Ssm	7	1,270	0.6%	cbioportal
24	KMT2D	Ssm	7	1,270	0.6%	cbioportal
23	FOXO1	Ssm	7	1,270	0.6%	cbioportal
22	ARID1A	Ssm	7	1,270	0.6%	cbioportal
27	CARD11	Ssm	6	1,270	0.5%	cbioportal
28	STAG2	Ssm	6	1,270	0.5%	cbioportal
26	BRCA1	Ssm	6	1,270	0.5%	cbioportal
30	H1-4	Ssm	5	1,270	0.4%	cbioportal
29	FAT1	Ssm	5	1,270	0.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-20

Histiocytosis Cobimetinib (MSK, Nature 2019) histiocytosis_cobi_msk_2019MSK

52 cases with simple somatic mutation data · 52 cases total · 2026-01-07 · mapped to Histiocytic and Dendritic Cell Neoplasm EXACT_IDENTIFIER

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

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
3	FADS6	Ssm	3	15	20%	cbioportal
7	SWT1	Ssm	3	15	20%	cbioportal
6	MUC4	Ssm	3	15	20%	cbioportal
4	FMN2	Ssm	3	15	20%	cbioportal
1	BRAF	Ssm	8	47	17%	cbioportal
2	MAP2K1	Ssm	6	39	15.4%	cbioportal
8	ADAMTS1	Ssm	2	15	13.3%	cbioportal
24	RAPGEF2	Ssm	2	15	13.3%	cbioportal
22	NSMAF	Ssm	2	15	13.3%	cbioportal
21	NBPF10	Ssm	2	15	13.3%	cbioportal
20	MUC5B	Ssm	2	15	13.3%	cbioportal
19	MUC12	Ssm	2	15	13.3%	cbioportal
18	LY6E	Ssm	2	15	13.3%	cbioportal
17	LIN28B	Ssm	2	15	13.3%	cbioportal
16	KRTAP2-2	Ssm	2	15	13.3%	cbioportal
15	FAM230A	Ssm	2	15	13.3%	cbioportal
14	F13A1	Ssm	2	15	13.3%	cbioportal
25	SKIC3	Ssm	2	15	13.3%	cbioportal
12	CHD3	Ssm	2	15	13.3%	cbioportal
26	SPATA31E1	Ssm	2	15	13.3%	cbioportal
10	ATAT1	Ssm	2	15	13.3%	cbioportal
27	SRSF4	Ssm	2	15	13.3%	cbioportal
23	PLIN4	Ssm	2	15	13.3%	cbioportal
154	KRTAP13-3	Ssm	1	15	6.7%	cbioportal
156	KRTAP9-9	Ssm	1	15	6.7%	cbioportal
155	KRTAP5-1	Ssm	1	15	6.7%	cbioportal
153	KRTAP1-3	Ssm	1	15	6.7%	cbioportal
160	LGR4	Ssm	1	15	6.7%	cbioportal
152	KRT33A	Ssm	1	15	6.7%	cbioportal
157	LAMA4	Ssm	1	15	6.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

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
2	U2AF1	Ssm	5	29	17.2%	cbioportal
3	ZRSR2	Ssm	5	29	17.2%	cbioportal
4	NRAS	Ssm	3	29	10.3%	cbioportal
5	SRSF2	Ssm	3	29	10.3%	cbioportal
6	ASXL1	Ssm	2	29	6.9%	cbioportal
7	BCOR	Ssm	2	29	6.9%	cbioportal
8	DNMT3A	Ssm	2	29	6.9%	cbioportal
10	KRAS	Ssm	2	29	6.9%	cbioportal
11	TP53	Ssm	2	29	6.9%	cbioportal
9	EZH2	Ssm	2	29	6.9%	cbioportal
15	AGAP1	Ssm	1	29	3.4%	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
14	ADHFE1	Ssm	1	29	3.4%	cbioportal
13	ADGRL3	Ssm	1	29	3.4%	cbioportal
12	ABRAXAS1	Ssm	1	29	3.4%	cbioportal
58	DOT1L	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
23	NOTCH1	Ssm	135	3,323	4.1%	cbioportal
22	JAK2	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
5	DNMT3A	Ssm	12	151	7.9%	cbioportal
4	ASXL1	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
14	TG	Ssm	3	151	2%	cbioportal
15	TP53	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
16	ABCC9	Ssm	2	151	1.3%	cbioportal
17	ANKRD30A	Ssm	2	151	1.3%	cbioportal
18	ARHGAP32	Ssm	2	151	1.3%	cbioportal
19	ASPM	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
26	DICER1	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

Data updated 22 days agoSource updated 2026-01-08

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
21	TET2	Ssm	17	887	1.9%	cbioportal
19	KDM6A	Ssm	17	887	1.9%	cbioportal
18	GATA1	Ssm	17	887	1.9%	cbioportal
20	PHF6	Ssm	17	887	1.9%	cbioportal
22	CCND3	Ssm	16	887	1.8%	cbioportal
26	IKZF1	Ssm	15	887	1.7%	cbioportal
25	EZH2	Ssm	15	887	1.7%	cbioportal
24	ETV6	Ssm	15	887	1.7%	cbioportal
23	ASXL1	Ssm	15	887	1.7%	cbioportal
29	MPL	Ssm	14	887	1.6%	cbioportal
27	BCOR	Ssm	14	887	1.6%	cbioportal
28	KMT2C	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
9	CDK11A	Ssm	4	150	2.7%	cbioportal
13	SLX9	Ssm	4	150	2.7%	cbioportal
12	IKZF1	Ssm	4	150	2.7%	cbioportal
11	IDH2	Ssm	4	150	2.7%	cbioportal
10	GATA2	Ssm	4	150	2.7%	cbioportal
8	CCND2	Ssm	4	150	2.7%	cbioportal
14	AKAP9	Ssm	3	150	2%	cbioportal
15	HLA-DQA1	Ssm	3	150	2%	cbioportal
16	NOM1	Ssm	3	150	2%	cbioportal
17	SMC3	Ssm	3	150	2%	cbioportal
18	SORD	Ssm	3	150	2%	cbioportal
19	ARRDC3	Ssm	2	150	1.3%	cbioportal
20	CITED4	Ssm	2	150	1.3%	cbioportal
21	CLASP1	Ssm	2	150	1.3%	cbioportal
22	CSF3R	Ssm	2	150	1.3%	cbioportal
23	CTSH	Ssm	2	150	1.3%	cbioportal
24	CWC27	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

Data updated 22 days agoSource updated 2026-01-05