Entrez Gene

Basic Information
Gene ID	5337
Name	PLD1
Synonymous	phospholipase D1, phosphatidylcholine-specific;PLD1;phospholipase D1, phosphatidylcholine-specific
Definition	choline phosphatase 1\|phosphatidylcholine-hydrolyzing phospholipase D1\|phospholipase D1
Position	3q26
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.10.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1096G>C; p.A366P; 3:171708804-171708804	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2287C>T; p.H763Y; 3:171662113-171662113	breast	carcinoma	Substitution - Missense
c.1183G>C; p.E395Q; 3:171699789-171699789	breast	carcinoma	Substitution - Missense
c.1546G>A; p.A516T; 3:171687578-171687578	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.762delG; p.W254fs*2; 3:171714042-171714042	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1012C>T; p.H338Y; 3:171709609-171709609	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.161-3delT; p.?; 3:171737662-171737662	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1823A>G; p.H608R; 3:171686729-171686729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1823A>G; p.H608R; 3:171686729-171686729	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.186T>A; p.Y62*; 3:171737634-171737634	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.168C>T; p.I56I; 3:171737652-171737652	skin	malignant_melanoma	Substitution - coding silent
c.3132G>A; p.L1044L; 3:171603171-171603171	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - coding silent
c.126C>T; p.Y42Y; 3:171737926-171737926	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.763T>C; p.L255L; 3:171714041-171714041	breast	carcinoma	Substitution - coding silent
c.609A>T; p.T203T; 3:171726074-171726074	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.385G>A; p.E129K; 3:171735541-171735541	NS	malignant_melanoma	Substitution - Missense
c.385G>A; p.E129K; 3:171735541-171735541	NS	malignant_melanoma	Substitution - Missense
c.2593C>T; p.L865F; 3:171642840-171642840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.40C>T; p.L14L; 3:171738012-171738012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1633G>A; p.D545N; 3:171687491-171687491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.610G>A; p.E204K; 3:171726073-171726073	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1521G>A; p.P507P; 3:171688694-171688694	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2679C>G; p.I893M; 3:171620435-171620435	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1583A>C; p.K528T; 3:171687541-171687541	breast	carcinoma	Substitution - Missense
c.2750G>A; p.R917H; 3:171612411-171612411	pancreas	carcinoma	Substitution - Missense
c.2340+1G>A; p.?; 3:171662059-171662059	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1583A>G; p.K528R; 3:171687541-171687541	skin	malignant_melanoma	Substitution - Missense
c.1547C>A; p.A516E; 3:171687577-171687577	prostate	carcinoma	Substitution - Missense
c.23G>T; p.R8L; 3:171738029-171738029	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2843C>T; p.A948V; 3:171612318-171612318	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.822C>T; p.F274F; 3:171713982-171713982	NS	malignant_melanoma	Substitution - coding silent
c.822C>T; p.F274F; 3:171713982-171713982	NS	malignant_melanoma	Substitution - coding silent
c.3126A>G; p.G1042G; 3:171603177-171603177	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2352C>T; p.F784F; 3:171659290-171659290	skin	malignant_melanoma	Substitution - coding silent
c.1817T>A; p.L606H; 3:171686735-171686735	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2351T>A; p.F784Y; 3:171659291-171659291	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2020C>T; p.P674S; 3:171676810-171676810	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3065A>T; p.K1022M; 3:171603238-171603238	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.269G>A; p.R90H; 3:171737551-171737551	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.360C>T; p.F120F; 3:171735566-171735566	breast	carcinoma; lobular_carcinoma	Substitution - coding silent
c.1835A>G; p.E612G; 3:171686717-171686717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2395G>A; p.D799N; 3:171659247-171659247	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1875G>A; p.G625G; 3:171677687-171677687	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2987C>A; p.T996K; 3:171605312-171605312	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.221C>T; p.T74M; 3:171737599-171737599	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.597T>C; p.Y199Y; 3:171733453-171733453	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2749C>T; p.R917C; 3:171612412-171612412	central_nervous_system; brain	glioma	Substitution - Missense
c.16G>A; p.E6K; 3:171738036-171738036	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2289C>T; p.H763H; 3:171662111-171662111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1601A>G; p.N534S; 3:171687523-171687523	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1012C>G; p.H338D; 3:171709609-171709609	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3121C>T; p.R1041C; 3:171603182-171603182	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1093G>T; p.V365L; 3:171708807-171708807	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2087A>G; p.H696R; 3:171676743-171676743	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2048C>T; p.S683F; 3:171676782-171676782	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.169C>T; p.P57S; 3:171737651-171737651	skin	malignant_melanoma	Substitution - Missense
c.1867+8A>C; p.?; 3:171686677-171686677	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1016G>A; p.R339Q; 3:171709605-171709605	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1884T>C; p.R628R; 3:171677678-171677678	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2225T>C; p.V742A; 3:171674504-171674504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1717G>A; p.D573N; 3:171687407-171687407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1479A>G; p.R493R; 3:171688736-171688736	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2025G>T; p.R675R; 3:171676805-171676805	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1489G>A; p.V497M; 3:171688726-171688726	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1043A>G; p.E348G; 3:171709578-171709578	central_nervous_system; brain	glioma	Substitution - Missense
c.15C>T; p.N5N; 3:171738037-171738037	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1010A>T; p.D337V; 3:171709611-171709611	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.821T>A; p.F274Y; 3:171713983-171713983	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.23G>C; p.R8P; 3:171738029-171738029	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.981C>T; p.I327I; 3:171709640-171709640	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2649G>A; p.E883E; 3:171620465-171620465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2236C>T; p.R746C; 3:171662164-171662164	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.2236C>T; p.R746C; 3:171662164-171662164	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1644G>T; p.L548L; 3:171687480-171687480	breast	carcinoma	Substitution - coding silent
c.2002A>T; p.I668F; 3:171676828-171676828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.253G>C; p.V85L; 3:171737567-171737567	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.331G>T; p.E111*; 3:171735595-171735595	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.29A>G; p.N10S; 3:171738023-171738023	skin	malignant_melanoma	Substitution - Missense
c.1956C>T; p.F652F; 3:171677606-171677606	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2762G>C; p.G921A; 3:171612399-171612399	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.331G>T; p.E111*; 3:171735595-171735595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1956C>T; p.F652F; 3:171677606-171677606	skin	malignant_melanoma	Substitution - coding silent
c.2866C>T; p.R956W; 3:171612295-171612295	skin; scalp	malignant_melanoma	Substitution - Missense
c.1956C>T; p.F652F; 3:171677606-171677606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2768G>A; p.R923H; 3:171612393-171612393	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.969A>T; p.I323I; 3:171709652-171709652	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3083A>G; p.E1028G; 3:171603220-171603220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.930C>T; p.C310C; 3:171709691-171709691	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1188A>G; p.G396G; 3:171699784-171699784	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2722A>G; p.I908V; 3:171620392-171620392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2761G>T; p.G921*; 3:171612400-171612400	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1523C>T; p.S508F; 3:171688692-171688692	skin	malignant_melanoma	Substitution - Missense
c.1385C>A; p.A462D; 3:171688830-171688830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1827G>A; p.P609P; 3:171686725-171686725	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3058A>G; p.I1020V; 3:171603245-171603245	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2446C>A; p.R816R; 3:171645007-171645007	thyroid	other; neoplasm	Substitution - coding silent
c.973_974insG; p.E325fs*29; 3:171709647-171709648	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Insertion - Frameshift
c.2295T>G; p.A765A; 3:171662105-171662105	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.573A>G; p.L191L; 3:171733477-171733477	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1339-1G>C; p.?; 3:171688877-171688877	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1847G>T; p.G616V; 3:171686705-171686705	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2140C>A; p.L714I; 3:171674589-171674589	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1137A>G; p.T379T; 3:171708763-171708763	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3094C>T; p.R1032*; 3:171603209-171603209	skin	malignant_melanoma	Substitution - Nonsense
c.2144C>T; p.S715F; 3:171674585-171674585	skin	malignant_melanoma	Substitution - Missense
c.1818C>T; p.L606L; 3:171686734-171686734	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.404C>T; p.A135V; 3:171735522-171735522	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1226C>T; p.A409V; 3:171699746-171699746	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.567G>T; p.K189N; 3:171733483-171733483	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1276G>A; p.A426T; 3:171692394-171692394	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1644G>A; p.L548L; 3:171687480-171687480	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.90G>A; p.T30T; 3:171737962-171737962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1683T>C; p.S561S; 3:171687441-171687441	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1683T>C; p.S561S; 3:171687441-171687441	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1964A>G; p.K655R; 3:171677598-171677598	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1676A>G; p.K559R; 3:171687448-171687448	liver	carcinoma	Substitution - Missense
c.1676A>G; p.K559R; 3:171687448-171687448	liver	carcinoma	Substitution - Missense
c.2491A>G; p.I831V; 3:171644962-171644962	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2662C>A; p.L888I; 3:171620452-171620452	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2080G>A; p.A694T; 3:171676750-171676750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.18G>T; p.E6D; 3:171738034-171738034	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1085T>C; p.F362S; 3:171708815-171708815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.18G>T; p.E6D; 3:171738034-171738034	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2338G>A; p.E780K; 3:171662062-171662062	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2338G>A; p.E780K; 3:171662062-171662062	skin	malignant_melanoma	Substitution - Missense
c.2593+1G>A; p.?; 3:171642839-171642839	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.22C>T; p.R8W; 3:171738030-171738030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1872C>T; p.T624T; 3:171677690-171677690	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.22C>T; p.R8W; 3:171738030-171738030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2979A>G; p.R993R; 3:171605320-171605320	ovary	other; neoplasm	Substitution - coding silent
c.2760G>T; p.L920L; 3:171612401-171612401	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.541-1G>T; p.?; 3:171733510-171733510	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.2738A>G; p.N913S; 3:171612423-171612423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2495C>T; p.S832L; 3:171644958-171644958	prostate	adenoma	Substitution - Missense
c.2283C>T; p.S761S; 3:171662117-171662117	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3218G>C; p.W1073S; 3:171603085-171603085	breast	carcinoma	Substitution - Missense
c.1372G>A; p.V458I; 3:171688843-171688843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2705C>T; p.A902V; 3:171620409-171620409	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2599A>G; p.N867D; 3:171620515-171620515	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2717C>T; p.T906I; 3:171620397-171620397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1591C>T; p.P531S; 3:171687533-171687533	skin	malignant_melanoma	Substitution - Missense
c.2576G>A; p.G859E; 3:171642857-171642857	breast	carcinoma	Substitution - Missense
c.2576G>A; p.G859E; 3:171642857-171642857	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2299G>A; p.V767I; 3:171662101-171662101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.879G>A; p.T293T; 3:171713925-171713925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.924A>G; p.L308L; 3:171709697-171709697	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2079G>A; p.V693V; 3:171676751-171676751	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.457G>A; p.V153I; 3:171734948-171734948	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2081C>T; p.A694V; 3:171676749-171676749	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.841G>A; p.E281K; 3:171713963-171713963	oesophagus	carcinoma	Substitution - Missense
c.745A>C; p.R249R; 3:171724709-171724709	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.1376A>G; p.Y459C; 3:171688839-171688839	breast	carcinoma	Substitution - Missense
c.2488G>T; p.D830Y; 3:171644965-171644965	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.569T>C; p.I190T; 3:171733481-171733481	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2746G>A; p.D916N; 3:171612415-171612415	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2746G>A; p.D916N; 3:171612415-171612415	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2969C>T; p.T990I; 3:171605330-171605330	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.490C>T; p.P164S; 3:171734915-171734915	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.247G>A; p.A83T; 3:171737573-171737573	breast	carcinoma	Substitution - Missense
c.1864G>T; p.A622S; 3:171686688-171686688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1864G>T; p.A622S; 3:171686688-171686688	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1864G>T; p.A622S; 3:171686688-171686688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1307G>T; p.R436M; 3:171692363-171692363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1540-10T>A; p.?; 3:171687594-171687594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3008G>A; p.R1003Q; 3:171603295-171603295	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1136C>A; p.T379K; 3:171708764-171708764	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1566C>T; p.S522S; 3:171687558-171687558	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1219C>T; p.R407*; 3:171699753-171699753	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2804A>C; p.E935A; 3:171612357-171612357	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3071T>A; p.V1024E; 3:171603232-171603232	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2932G>C; p.V978L; 3:171605367-171605367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1918G>T; p.E640*; 3:171677644-171677644	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1906G>A; p.E636K; 3:171677656-171677656	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2767C>T; p.R923C; 3:171612394-171612394	skin	malignant_melanoma	Substitution - Missense
c.2311G>C; p.E771Q; 3:171662089-171662089	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.10A>G; p.K4E; 3:171738042-171738042	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3183T>C; p.V1061V; 3:171603120-171603120	skin	malignant_melanoma	Substitution - coding silent
c.1264G>T; p.E422*; 3:171692406-171692406	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2767C>T; p.R923C; 3:171612394-171612394	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1502A>C; p.K501T; 3:171688713-171688713	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.382A>C; p.R128R; 3:171735544-171735544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.545A>G; p.Q182R; 3:171733505-171733505	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.222G>A; p.T74T; 3:171737598-171737598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1996+1G>A; p.?; 3:171677565-171677565	lung	carcinoma; adenocarcinoma	Unknown
c.1643T>G; p.L548R; 3:171687481-171687481	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2664A>G; p.L888L; 3:171620450-171620450	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1260C>T; p.Y420Y; 3:171692410-171692410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2519A>C; p.Q840P; 3:171644934-171644934	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.3179C>A; p.S1060Y; 3:171603124-171603124	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1532C>T; p.S511F; 3:171688683-171688683	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2237G>A; p.R746H; 3:171662163-171662163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.529C>T; p.L177F; 3:171734876-171734876	skin	malignant_melanoma	Substitution - Missense
c.529C>T; p.L177F; 3:171734876-171734876	skin	malignant_melanoma	Substitution - Missense
c.1823A>T; p.H608L; 3:171686729-171686729	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2001C>T; p.F667F; 3:171676829-171676829	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.577A>T; p.M193L; 3:171733473-171733473	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.174delC; p.S59fs*23; 3:171737646-171737646	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - Frameshift
c.2326T>C; p.Y776H; 3:171662074-171662074	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.730G>A; p.G244R; 3:171724724-171724724	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1264G>A; p.E422K; 3:171692406-171692406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1923C>T; p.T641T; 3:171677639-171677639	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2938G>T; p.D980Y; 3:171605361-171605361	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1520C>T; p.P507L; 3:171688695-171688695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2098C>G; p.R700G; 3:171676732-171676732	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.806G>A; p.S269N; 3:171713998-171713998	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2170C>A; p.Q724K; 3:171674559-171674559	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2754C>T; p.S918S; 3:171612407-171612407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1339G>T; p.V447L; 3:171688876-171688876	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2848C>T; p.R950W; 3:171612313-171612313	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.31A>T; p.T11S; 3:171738021-171738021	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2535C>T; p.F845F; 3:171644918-171644918	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.841G>T; p.E281*; 3:171713963-171713963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.841G>T; p.E281*; 3:171713963-171713963	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.130G>A; p.V44M; 3:171737922-171737922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2793G>C; p.V931V; 3:171612368-171612368	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2782G>A; p.A928T; 3:171612379-171612379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.528C>T; p.F176F; 3:171734877-171734877	bone; pelvis	chondrosarcoma	Substitution - coding silent
c.2379G>T; p.V793V; 3:171659263-171659263	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.549G>T; p.L183L; 3:171733501-171733501	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.373G>T; p.E125*; 3:171735553-171735553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.812C>T; p.A271V; 3:171713992-171713992	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.973G>T; p.E325*; 3:171709648-171709648	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2856C>A; p.A952A; 3:171612305-171612305	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.146C>A; p.P49H; 3:171737906-171737906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.857T>C; p.V286A; 3:171713947-171713947	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1060T>C; p.W354R; 3:171709561-171709561	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.73A>T; p.I25L; 3:171737979-171737979	central_nervous_system; brain	glioma	Substitution - Missense
c.3068C>T; p.P1023L; 3:171603235-171603235	skin	malignant_melanoma	Substitution - Missense
c.2446C>T; p.R816W; 3:171645007-171645007	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2044G>A; p.A682T; 3:171676786-171676786	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1865C>A; p.A622D; 3:171686687-171686687	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2223C>T; p.N741N; 3:171674506-171674506	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3154T>G; p.L1052V; 3:171603149-171603149	skin	malignant_melanoma	Substitution - Missense
c.2499C>A; p.T833T; 3:171644954-171644954	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.360C>G; p.F120L; 3:171735566-171735566	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1879A>G; p.I627V; 3:171677683-171677683	liver	carcinoma	Substitution - Missense
c.1879A>G; p.I627V; 3:171677683-171677683	liver	carcinoma	Substitution - Missense
c.1017A>T; p.R339R; 3:171709604-171709604	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1556C>T; p.S519F; 3:171687568-171687568	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.734G>A; p.R245K; 3:171724720-171724720	breast	carcinoma	Substitution - Missense

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]