Bile Duct Neoplasm — Genomics

Bile Duct Neoplasm — Genomics · CancerIndex

Genomics

Gene alteration frequencies by cohort

14 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.

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

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.

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
4	KLHDC7A	Ssm	42	51	82.4%	gdc
2	TAS1R2	Ssm	42	51	82.4%	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
15	NBL1	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
16	AADACL4	Ssm	41	51	80.4%	gdc
31	ZNF436	Ssm	41	51	80.4%	gdc
32	RNF186	Ssm	41	51	80.4%	gdc
33	MFAP2	Ssm	41	51	80.4%	gdc
34	CAPZB	Ssm	41	51	80.4%	gdc
35	PRAMEF20	Ssm	41	51	80.4%	gdc
36	HNRNPCL4	Ssm	41	51	80.4%	gdc
37	AKR7A3	Ssm	41	51	80.4%	gdc
38	USP48	Ssm	41	51	80.4%	gdc
22	EIF4G3	Ssm	41	51	80.4%	gdc
23	TEX46	Ssm	41	51	80.4%	gdc
24	CAMK2N1	Ssm	41	51	80.4%	gdc
25	ACTL8	Ssm	41	51	80.4%	gdc
26	PRAMEF12	Ssm	41	51	80.4%	gdc
27	PADI4	Ssm	41	51	80.4%	gdc
28	PRAMEF27	Ssm	41	51	80.4%	gdc
29	THAP3	Ssm	41	51	80.4%	gdc
30	RPL11	Ssm	41	51	80.4%	gdc

Data updated 22 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
10	EPHA2	Ssm	36	417	8.6%	cbioportal
11	PCLO	Ssm	36	417	8.6%	cbioportal
12	CSMD3	Ssm	34	417	8.2%	cbioportal
13	SACS	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
17	HMCN1	Ssm	30	417	7.2%	cbioportal
18	KMT2D	Ssm	30	417	7.2%	cbioportal
19	ELF3	Ssm	29	417	7%	cbioportal
20	KMT2C	Ssm	29	417	7%	cbioportal
21	PBRM1	Ssm	29	417	7%	cbioportal
22	LRP2	Ssm	28	417	6.7%	cbioportal
23	MUC6	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
28	NEB	Ssm	24	417	5.8%	cbioportal
29	PLEC	Ssm	24	417	5.8%	cbioportal
30	SPTA1	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
12	BRAF	Ssm	9	195	4.6%	cbioportal
13	KMT2D	Ssm	9	195	4.6%	cbioportal
14	NF1	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
28	STK11	Ssm	5	195	2.6%	cbioportal
27	SF3B1	Ssm	5	195	2.6%	cbioportal
26	PTPRS	Ssm	5	195	2.6%	cbioportal
25	KMT2A	Ssm	5	195	2.6%	cbioportal
24	DOT1L	Ssm	5	195	2.6%	cbioportal
23	CTNNB1	Ssm	5	195	2.6%	cbioportal
22	ASXL1	Ssm	5	195	2.6%	cbioportal
21	ARID2	Ssm	5	195	2.6%	cbioportal
20	ARID1B	Ssm	5	195	2.6%	cbioportal
19	ABL1	Ssm	5	195	2.6%	cbioportal
63	PGR	Ssm	3	141	2.1%	cbioportal
43	ANKRD11	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
2	BAP1	Ssm	4	15	26.7%	cbioportal
1	ARID1A	Ssm	4	15	26.7%	cbioportal
3	IDH1	Ssm	3	15	20%	cbioportal
5	TP53	Ssm	3	15	20%	cbioportal
4	KRAS	Ssm	3	15	20%	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
6	ADGRG4	Ssm	2	15	13.3%	cbioportal
12	LRRIQ1	Ssm	2	15	13.3%	cbioportal
11	HMCN1	Ssm	2	15	13.3%	cbioportal
29	BDH1	Ssm	1	15	6.7%	cbioportal
49	COL1A2	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
17	ALDH1L1	Ssm	1	15	6.7%	cbioportal
18	ANKAR	Ssm	1	15	6.7%	cbioportal
19	ANO6	Ssm	1	15	6.7%	cbioportal
20	AP1AR	Ssm	1	15	6.7%	cbioportal
21	APOB	Ssm	1	15	6.7%	cbioportal
22	ARHGAP12	Ssm	1	15	6.7%	cbioportal
23	ARHGAP15	Ssm	1	15	6.7%	cbioportal
24	ARHGEF4	Ssm	1	15	6.7%	cbioportal
25	ASAP1	Ssm	1	15	6.7%	cbioportal
26	ASIC3	Ssm	1	15	6.7%	cbioportal
27	ATP8B4	Ssm	1	15	6.7%	cbioportal
28	ATRN	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
3	KRAS	Ssm	3	8	37.5%	cbioportal
4	RNF43	Ssm	3	8	37.5%	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
13	XIRP2	Ssm	2	8	25%	cbioportal
5	GNAS	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
18	ANK2	Ssm	1	8	12.5%	cbioportal
17	ALPP	Ssm	1	8	12.5%	cbioportal
16	AGO1	Ssm	1	8	12.5%	cbioportal
14	ADAM12	Ssm	1	8	12.5%	cbioportal
15	AFF1	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
26	BCAS2	Ssm	1	8	12.5%	cbioportal
25	BBS4	Ssm	1	8	12.5%	cbioportal
24	ASAP3	Ssm	1	8	12.5%	cbioportal
23	ARL6IP5	Ssm	1	8	12.5%	cbioportal
22	ARID1A	Ssm	1	8	12.5%	cbioportal
21	ARAF	Ssm	1	8	12.5%	cbioportal
20	ANO4	Ssm	1	8	12.5%	cbioportal
19	ANKRD35	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
3	BAP1	Ssm	8	35	22.9%	cbioportal
4	PBRM1	Ssm	8	35	22.9%	cbioportal
8	MUC2	Ssm	7	35	20%	cbioportal
7	KMT2C	Ssm	7	35	20%	cbioportal
6	CDC27	Ssm	7	35	20%	cbioportal
5	ANKRD36C	Ssm	7	35	20%	cbioportal
9	DNAH5	Ssm	6	35	17.1%	cbioportal
11	TCHH	Ssm	6	35	17.1%	cbioportal
10	MUC5B	Ssm	6	35	17.1%	cbioportal
21	PLXNA4	Ssm	5	35	14.3%	cbioportal
20	MUC16	Ssm	5	35	14.3%	cbioportal
19	HLA-B	Ssm	5	35	14.3%	cbioportal
18	BLTP1	Ssm	5	35	14.3%	cbioportal
17	BIRC6	Ssm	5	35	14.3%	cbioportal
16	ATM	Ssm	5	35	14.3%	cbioportal
15	ARID1A	Ssm	5	35	14.3%	cbioportal
14	AHNAK	Ssm	5	35	14.3%	cbioportal
13	ADGRV1	Ssm	5	35	14.3%	cbioportal
12	ABCA13	Ssm	5	35	14.3%	cbioportal
24	TP53	Ssm	5	35	14.3%	cbioportal
23	RYR3	Ssm	5	35	14.3%	cbioportal
22	POLE	Ssm	5	35	14.3%	cbioportal
29	CLIP4	Ssm	4	35	11.4%	cbioportal
27	APC	Ssm	4	35	11.4%	cbioportal
26	ANKRD17	Ssm	4	35	11.4%	cbioportal
25	AHNAK2	Ssm	4	35	11.4%	cbioportal
30	COL6A3	Ssm	4	35	11.4%	cbioportal
28	ARID1B	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
9	TP53	Ssm	5	51	9.8%	cbioportal
8	MUC16	Ssm	5	51	9.8%	cbioportal
7	LRP1B	Ssm	5	51	9.8%	cbioportal
6	KRAS	Ssm	5	51	9.8%	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
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
10	CHD7	Ssm	4	51	7.8%	cbioportal
30	DCAF4L2	Ssm	3	51	5.9%	cbioportal
22	ADAM30	Ssm	3	51	5.9%	cbioportal
29	CTNNA2	Ssm	3	51	5.9%	cbioportal
28	C3	Ssm	3	51	5.9%	cbioportal
27	BIRC6	Ssm	3	51	5.9%	cbioportal
26	APOB	Ssm	3	51	5.9%	cbioportal
25	ANK2	Ssm	3	51	5.9%	cbioportal
24	ALB	Ssm	3	51	5.9%	cbioportal
23	AHNAK	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
4	ARID1A	Ssm	4	36	11.1%	cbioportal
5	DNAH5	Ssm	4	36	11.1%	cbioportal
6	EPHA2	Ssm	4	36	11.1%	cbioportal
7	KMT2C	Ssm	4	36	11.1%	cbioportal
8	TP53	Ssm	4	36	11.1%	cbioportal
9	TTN	Ssm	4	36	11.1%	cbioportal
16	BCOR	Ssm	3	36	8.3%	cbioportal
10	ADAM30	Ssm	3	36	8.3%	cbioportal
11	ADGRV1	Ssm	3	36	8.3%	cbioportal
12	AHNAK	Ssm	3	36	8.3%	cbioportal
13	ALB	Ssm	3	36	8.3%	cbioportal
14	APOB	Ssm	3	36	8.3%	cbioportal
15	ARID1B	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
22	LRP1	Ssm	3	36	8.3%	cbioportal
23	MACF1	Ssm	3	36	8.3%	cbioportal
24	MPDZ	Ssm	3	36	8.3%	cbioportal
25	MUC16	Ssm	3	36	8.3%	cbioportal
26	MUC5B	Ssm	3	36	8.3%	cbioportal
27	PLXNA4	Ssm	3	36	8.3%	cbioportal
28	RYR1	Ssm	3	36	8.3%	cbioportal
30	AFDN	Ssm	2	36	5.6%	cbioportal
29	ABCA13	Ssm	2	36	5.6%	cbioportal

Data updated 22 days agoSource updated 2026-06-05

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
1	BAP1	Ssm	8	40	20%	cbioportal
2	TP53	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
18	PIK3CA	Ssm	3	40	7.5%	cbioportal
20	UBE2O	Ssm	3	40	7.5%	cbioportal
9	CSMD3	Ssm	3	40	7.5%	cbioportal
10	DNAH11	Ssm	3	40	7.5%	cbioportal
11	DNAH6	Ssm	3	40	7.5%	cbioportal
12	DNAH9	Ssm	3	40	7.5%	cbioportal
13	EPHA2	Ssm	3	40	7.5%	cbioportal
14	FAT1	Ssm	3	40	7.5%	cbioportal
15	FAT4	Ssm	3	40	7.5%	cbioportal
16	HRNR	Ssm	3	40	7.5%	cbioportal
17	NIPBL	Ssm	3	40	7.5%	cbioportal
19	SORCS3	Ssm	3	40	7.5%	cbioportal
8	CSMD1	Ssm	3	40	7.5%	cbioportal
30	ARID5B	Ssm	2	40	5%	cbioportal
29	APOE	Ssm	2	40	5%	cbioportal
28	ALB	Ssm	2	40	5%	cbioportal
27	AKAP9	Ssm	2	40	5%	cbioportal
26	AHNAK	Ssm	2	40	5%	cbioportal
25	AGK	Ssm	2	40	5%	cbioportal
24	ADRA2B	Ssm	2	40	5%	cbioportal
23	ADAMTSL3	Ssm	2	40	5%	cbioportal
22	ADAMTS5	Ssm	2	40	5%	cbioportal
21	ADAMTS18	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
2	ARAF	Ssm	2	8	25%	cbioportal
3	MUC16	Ssm	2	8	25%	cbioportal
4	ABCD4	Ssm	1	8	12.5%	cbioportal
5	ACIN1	Ssm	1	8	12.5%	cbioportal
6	ADAMTS19	Ssm	1	8	12.5%	cbioportal
7	ADAMTSL1	Ssm	1	8	12.5%	cbioportal
8	ADCY2	Ssm	1	8	12.5%	cbioportal
9	ANKRD20A3P	Ssm	1	8	12.5%	cbioportal
10	ANKRD30A	Ssm	1	8	12.5%	cbioportal
11	ANLN	Ssm	1	8	12.5%	cbioportal
12	ANXA6	Ssm	1	8	12.5%	cbioportal
13	APPBP2	Ssm	1	8	12.5%	cbioportal
14	AQP5	Ssm	1	8	12.5%	cbioportal
15	ARID1A	Ssm	1	8	12.5%	cbioportal
16	ASRGL1	Ssm	1	8	12.5%	cbioportal
17	BPIFA1	Ssm	1	8	12.5%	cbioportal
18	CBLIF	Ssm	1	8	12.5%	cbioportal
19	CCDC181	Ssm	1	8	12.5%	cbioportal
20	CCL7	Ssm	1	8	12.5%	cbioportal
21	CEACAM5	Ssm	1	8	12.5%	cbioportal
22	CEP295	Ssm	1	8	12.5%	cbioportal
23	CFAP20	Ssm	1	8	12.5%	cbioportal
24	CFAP43	Ssm	1	8	12.5%	cbioportal
25	CIT	Ssm	1	8	12.5%	cbioportal
26	CRIPAK	Ssm	1	8	12.5%	cbioportal
27	CROT	Ssm	1	8	12.5%	cbioportal
28	CTC1	Ssm	1	8	12.5%	cbioportal
29	CTDSP2	Ssm	1	8	12.5%	cbioportal
30	DENND2C	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
11	PIK3CA	Ssm	8	199	4%	cbioportal
10	IDH2	Ssm	8	199	4%	cbioportal
9	FGFR2	Ssm	8	199	4%	cbioportal
14	CDKN2A	Ssm	7	199	3.5%	cbioportal
12	ARID2	Ssm	7	199	3.5%	cbioportal
13	ATM	Ssm	7	199	3.5%	cbioportal
16	PTPRT	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
69	TP53BP1	Ssm	3	89	3.4%	cbioportal
68	SOS1	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
23	RB1	Ssm	5	199	2.5%	cbioportal
21	DOT1L	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
91	ERF	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
11	IDH2	Ssm	18	412	4.4%	cbioportal
10	FGFR2	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
30	SF3B1	Ssm	9	412	2.2%	cbioportal
22	ABL1	Ssm	9	412	2.2%	cbioportal
26	CDKN2A	Ssm	9	412	2.2%	cbioportal
27	FAT1	Ssm	9	412	2.2%	cbioportal
31	SMAD4	Ssm	9	412	2.2%	cbioportal
28	NF1	Ssm	9	412	2.2%	cbioportal
29	PTPRT	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
6	FAM230A	Ssm	13	103	12.6%	cbioportal
7	HLA-C	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
11	HLA-B	Ssm	10	103	9.7%	cbioportal
12	MUC2	Ssm	10	103	9.7%	cbioportal
13	MUC3A	Ssm	10	103	9.7%	cbioportal
14	ODF1	Ssm	10	103	9.7%	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
19	LILRA6	Ssm	9	103	8.7%	cbioportal
20	OBSCN	Ssm	9	103	8.7%	cbioportal
21	CEP89	Ssm	8	103	7.8%	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
25	PER3	Ssm	8	103	7.8%	cbioportal
26	ADAMTS7	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
27	ARID1A	Ssm	7	103	6.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-07