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 (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

COSMIC somatic mutation [Top]