lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	718
Symbol	C3
Synonymous	AHUS5\|ARMD9\|ASP\|C3a\|C3b\|CPAMD1\|HEL-S-62p
Full name	complement component 3
Gene description	C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1\|C3a anaphylatoxin\|acylation-stimulating protein cleavage product\|complement C3\|complement component C3\|complement component C3a\|complement component C3b\|epididymis secretory sperm binding p
Cytoband	19p13.3-p13.2
Gene type	protein-coding
Synonymous	MIM:120700; HGNC:HGNC:1318; Ensembl:ENSG00000125730; HPRD:00400; Vega:OTTHUMG00000150335

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2413C>A; p.L805M; 19:6702154-6702154	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2098G>C; p.E700Q; 19:6707223-6707223	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1458G>A; p.K486K; 19:6711008-6711008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3463A>G; p.K1155E; 19:6690655-6690655	liver	carcinoma	Substitution - Missense
c.4889A>G; p.H1630R; 19:6677985-6677985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3154+1G>A; p.?; 19:6694430-6694430	skin	malignant_melanoma	Unknown
c.3463A>G; p.K1155E; 19:6690655-6690655	liver	carcinoma	Substitution - Missense
c.3463A>G; p.K1155E; 19:6690655-6690655	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2803G>A; p.G935R; 19:6696653-6696653	skin	malignant_melanoma	Substitution - Missense
c.4634A>G; p.Y1545C; 19:6678452-6678452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1052C>T; p.S351F; 19:6712575-6712575	breast	carcinoma	Substitution - Missense
c.2803G>A; p.G935R; 19:6696653-6696653	skin	malignant_melanoma	Substitution - Missense
c.1369C>T; p.H457Y; 19:6711097-6711097	liver	carcinoma	Substitution - Missense
c.1180G>A; p.E394K; 19:6712346-6712346	skin	malignant_melanoma	Substitution - Missense
c.2038A>T; p.M680L; 19:6707475-6707475	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4718C>A; p.S1573*; 19:6678284-6678284	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1633G>A; p.E545K; 19:6710692-6710692	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2871G>T; p.V957V; 19:6696458-6696458	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2985C>T; p.V995V; 19:6694600-6694600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4459G>T; p.E1487*; 19:6679494-6679494	soft_tissue; blood_vessel	angiosarcoma	Substitution - Nonsense
c.2715C>T; p.T905T; 19:6697425-6697425	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.321C>A; p.T107T; 19:6718359-6718359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4814G>T; p.W1605L; 19:6678188-6678188	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2501G>A; p.R834Q; 19:6697734-6697734	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4278C>G; p.D1426E; 19:6682013-6682013	prostate	carcinoma	Substitution - Missense
c.3475G>A; p.E1159K; 19:6690643-6690643	skin	malignant_melanoma	Substitution - Missense
c.3871G>C; p.E1291Q; 19:6685086-6685086	pancreas	carcinoma	Substitution - Missense
c.1159G>A; p.V387I; 19:6712367-6712367	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1274G>A; p.R425H; 19:6711192-6711192	pancreas	carcinoma	Substitution - Missense
c.2941C>T; p.L981F; 19:6696388-6696388	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1078A>G; p.T360A; 19:6712549-6712549	central_nervous_system; brain	glioma	Substitution - Missense
c.1405G>A; p.E469K; 19:6711061-6711061	skin	malignant_melanoma	Substitution - Missense
c.4843A>G; p.K1615E; 19:6678159-6678159	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4085A>G; p.D1362G; 19:6684595-6684595	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2941C>A; p.L981I; 19:6696388-6696388	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.145G>A; p.A49T; 19:6719333-6719333	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1961C>T; p.T654I; 19:6707814-6707814	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.99C>A; p.I33I; 19:6719379-6719379	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.420C>T; p.T140T; 19:6718260-6718260	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.943C>T; p.R315*; 19:6713249-6713249	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.99C>A; p.I33I; 19:6719379-6719379	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2001C>T; p.A667A; 19:6707512-6707512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2090G>A; p.G697D; 19:6707231-6707231	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2284G>A; p.V762I; 19:6702541-6702541	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2527G>A; p.E843K; 19:6697708-6697708	skin	malignant_melanoma	Substitution - Missense
c.3928C>T; p.R1310C; 19:6685029-6685029	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.103C>T; p.R35W; 19:6719375-6719375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1921G>A; p.D641N; 19:6707854-6707854	central_nervous_system; brain	glioma	Substitution - Missense
c.2527G>A; p.E843K; 19:6697708-6697708	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2527G>A; p.E843K; 19:6697708-6697708	skin	malignant_melanoma	Substitution - Missense
c.3050G>A; p.G1017D; 19:6694535-6694535	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4985C>A; p.P1662H; 19:6677889-6677889	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2129_2130GG>TC; p.R710>?; 19:6707191-6707192	lung	carcinoma; adenocarcinoma	Complex
c.2529G>A; p.E843E; 19:6697706-6697706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4628A>G; p.Y1543C; 19:6679127-6679127	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2641C>T; p.R881C; 19:6697499-6697499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2184C>A; p.C728*; 19:6707137-6707137	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4445A>G; p.Y1482C; 19:6680169-6680169	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2129G>A; p.R710Q; 19:6707192-6707192	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4299G>A; p.E1433E; 19:6681992-6681992	thyroid	carcinoma	Substitution - coding silent
c.774G>A; p.R258R; 19:6713509-6713509	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2357T>A; p.I786N; 19:6702210-6702210	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1450G>A; p.E484K; 19:6711016-6711016	skin	malignant_melanoma	Substitution - Missense
c.954C>T; p.D318D; 19:6713238-6713238	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.993C>G; p.I331M; 19:6713199-6713199	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1553C>T; p.P518L; 19:6710772-6710772	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.993C>G; p.I331M; 19:6713199-6713199	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2526C>T; p.N842N; 19:6697709-6697709	breast	carcinoma	Substitution - coding silent
c.2028G>A; p.T676T; 19:6707485-6707485	pancreas	carcinoma	Substitution - coding silent
c.1578C>T; p.I526I; 19:6710747-6710747	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4764C>A; p.I1588I; 19:6678238-6678238	central_nervous_system; brain	glioma	Substitution - coding silent
c.4459G>A; p.E1487K; 19:6679494-6679494	skin; hand	malignant_melanoma	Substitution - Missense
c.3647-9T>G; p.?; 19:6686296-6686296	liver	carcinoma	Unknown
c.4459G>A; p.E1487K; 19:6679494-6679494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4228G>A; p.G1410S; 19:6682174-6682174	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4664C>A; p.S1555Y; 19:6678422-6678422	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.522G>A; p.P174P; 19:6714429-6714429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2976G>T; p.E992D; 19:6694609-6694609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3791G>A; p.G1264D; 19:6686143-6686143	skin	malignant_melanoma	Substitution - Missense
c.1281G>A; p.K427K; 19:6711185-6711185	skin	malignant_melanoma	Substitution - coding silent
c.4821C>A; p.L1607L; 19:6678181-6678181	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1513C>T; p.R505C; 19:6710812-6710812	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3279C>T; p.I1093I; 19:6693035-6693035	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1611G>A; p.L537L; 19:6710714-6710714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4867G>C; p.G1623R; 19:6678007-6678007	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4687A>G; p.M1563V; 19:6678399-6678399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2522G>A; p.R841Q; 19:6697713-6697713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2730G>A; p.V910V; 19:6697410-6697410	skin	malignant_melanoma	Substitution - coding silent
c.1006A>G; p.S336G; 19:6712621-6712621	liver	carcinoma	Substitution - Missense
c.3265G>C; p.A1089P; 19:6693049-6693049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4335C>T; p.I1445I; 19:6681956-6681956	skin	malignant_melanoma	Substitution - coding silent
c.4887G>T; p.E1629D; 19:6677987-6677987	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2283C>T; p.I761I; 19:6702542-6702542	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.305G>A; p.R102H; 19:6718375-6718375	central_nervous_system; brain	glioma	Substitution - Missense
c.4254G>A; p.L1418L; 19:6682148-6682148	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.2506C>A; p.P836T; 19:6697729-6697729	pancreas	carcinoma	Substitution - Missense
c.2506C>A; p.P836T; 19:6697729-6697729	breast	carcinoma	Substitution - Missense
c.2291G>A; p.R764Q; 19:6702534-6702534	skin	malignant_melanoma	Substitution - Missense
c.1954C>T; p.Q652*; 19:6707821-6707821	skin	malignant_melanoma	Substitution - Nonsense
c.2291G>A; p.R764Q; 19:6702534-6702534	skin; arm	malignant_melanoma	Substitution - Missense
c.4143G>T; p.K1381N; 19:6684417-6684417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1162C>G; p.P388A; 19:6712364-6712364	breast	carcinoma	Substitution - Missense
c.433+3G>A; p.?; 19:6718244-6718244	pancreas	carcinoma	Unknown
c.4143G>T; p.K1381N; 19:6684417-6684417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4686C>T; p.I1562I; 19:6678400-6678400	skin	malignant_melanoma	Substitution - coding silent
c.2782T>G; p.S928A; 19:6697358-6697358	breast	carcinoma	Substitution - Missense
c.2012G>A; p.R671H; 19:6707501-6707501	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2002C>T; p.R668C; 19:6707511-6707511	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4797G>T; p.K1599N; 19:6678205-6678205	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1963G>A; p.A655T; 19:6707812-6707812	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2556C>A; p.Y852*; 19:6697679-6697679	prostate	carcinoma	Substitution - Nonsense
c.1963G>A; p.A655T; 19:6707812-6707812	central_nervous_system; brain	glioma	Substitution - Missense
c.2027C>T; p.T676M; 19:6707486-6707486	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3911G>A; p.S1304N; 19:6685046-6685046	skin	malignant_melanoma	Substitution - Missense
c.1365C>A; p.Y455*; 19:6711101-6711101	prostate	adenoma	Substitution - Nonsense
c.4533C>T; p.C1511C; 19:6679420-6679420	skin	malignant_melanoma	Substitution - coding silent
c.1514G>A; p.R505H; 19:6710811-6710811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2729T>C; p.V910A; 19:6697411-6697411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>T; p.T140I; 19:6718261-6718261	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4042T>G; p.Y1348D; 19:6684638-6684638	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2609C>T; p.P870L; 19:6697531-6697531	skin	malignant_melanoma	Substitution - Missense
c.2563C>T; p.R855W; 19:6697672-6697672	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.69T>C; p.S23S; 19:6720521-6720521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4218C>T; p.S1406S; 19:6682184-6682184	skin	malignant_melanoma	Substitution - coding silent
c.3391-4T>C; p.?; 19:6690731-6690731	pancreas	NS	Unknown
c.3083T>C; p.L1028P; 19:6694502-6694502	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3346G>A; p.G1116R; 19:6692968-6692968	skin; extremity	malignant_melanoma	Substitution - Missense
c.696C>T; p.F232F; 19:6714069-6714069	skin	malignant_melanoma	Substitution - coding silent
c.2974G>A; p.E992K; 19:6694611-6694611	skin	malignant_melanoma	Substitution - Missense
c.784G>A; p.G262R; 19:6713499-6713499	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1179C>T; p.G393G; 19:6712347-6712347	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4361C>G; p.S1454C; 19:6680253-6680253	skin	malignant_melanoma	Substitution - Missense
c.3400C>T; p.R1134W; 19:6690718-6690718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2798C>T; p.P933L; 19:6696658-6696658	skin	malignant_melanoma	Substitution - Missense
c.3400C>T; p.R1134W; 19:6690718-6690718	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1207G>A; p.G403R; 19:6712319-6712319	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4398C>A; p.Y1466*; 19:6680216-6680216	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.4398C>A; p.Y1466*; 19:6680216-6680216	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2995C>T; p.R999W; 19:6694590-6694590	pancreas	carcinoma	Substitution - Missense
c.3976G>A; p.E1326K; 19:6684828-6684828	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3976G>A; p.E1326K; 19:6684828-6684828	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4398C>A; p.Y1466*; 19:6680216-6680216	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1103T>G; p.M368R; 19:6712524-6712524	skin	malignant_melanoma	Substitution - Missense
c.3976G>A; p.E1326K; 19:6684828-6684828	skin	malignant_melanoma	Substitution - Missense
c.2340G>A; p.E780E; 19:6702485-6702485	skin	malignant_melanoma	Substitution - coding silent
c.3587_3588insT; p.A1197fs*12; 19:6686804-6686805	liver	carcinoma	Insertion - Frameshift
c.3489C>T; p.N1163N; 19:6690629-6690629	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1923C>T; p.D641D; 19:6707852-6707852	pancreas	carcinoma	Substitution - coding silent
c.1908C>T; p.A636A; 19:6707867-6707867	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2618G>A; p.C873Y; 19:6697522-6697522	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.381C>T; p.S127S; 19:6718299-6718299	breast	carcinoma	Substitution - coding silent
c.3112G>C; p.G1038R; 19:6694473-6694473	breast	carcinoma	Substitution - Missense
c.2549T>G; p.V850G; 19:6697686-6697686	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3374T>C; p.I1125T; 19:6692940-6692940	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2128C>T; p.R710W; 19:6707193-6707193	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2990C>T; p.A997V; 19:6694595-6694595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2301C>A; p.F767L; 19:6702524-6702524	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1028G>A; p.R343H; 19:6712599-6712599	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4020C>G; p.G1340G; 19:6684784-6684784	liver	carcinoma	Substitution - coding silent
c.1216G>C; p.V406L; 19:6712310-6712310	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4020C>G; p.G1340G; 19:6684784-6684784	liver	carcinoma	Substitution - coding silent
c.1523G>A; p.R508Q; 19:6710802-6710802	skin; mucosal	malignant_melanoma	Substitution - Missense
c.4584C>T; p.T1528T; 19:6679171-6679171	skin	malignant_melanoma	Substitution - coding silent
c.3594G>C; p.Q1198H; 19:6686798-6686798	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4134G>T; p.Q1378H; 19:6684426-6684426	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3021delC; p.S1008fs*8; 19:6694564-6694564	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3021delC; p.S1008fs*8; 19:6694564-6694564	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3021delC; p.S1008fs*8; 19:6694564-6694564	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3022T>C; p.S1008P; 19:6694563-6694563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4535G>A; p.R1512H; 19:6679418-6679418	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4535G>A; p.R1512H; 19:6679418-6679418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3927C>T; p.H1309H; 19:6685030-6685030	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3390+2T>A; p.?; 19:6692922-6692922	lung	carcinoma; small_cell_carcinoma	Unknown
c.1845+2T>G; p.?; 19:6709682-6709682	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1920C>T; p.S640S; 19:6707855-6707855	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2718C>T; p.G906G; 19:6697422-6697422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2156C>T; p.A719V; 19:6707165-6707165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2996G>A; p.R999Q; 19:6694589-6694589	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1032C>T; p.S344S; 19:6712595-6712595	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2219G>A; p.R740Q; 19:6707102-6707102	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2878G>A; p.E960K; 19:6696451-6696451	skin	malignant_melanoma	Substitution - Missense
c.1975+8C>A; p.?; 19:6707792-6707792	liver	carcinoma	Unknown
c.4678G>A; p.E1560K; 19:6678408-6678408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3412G>A; p.E1138K; 19:6690706-6690706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1975+8C>A; p.?; 19:6707792-6707792	liver	carcinoma	Unknown
c.1508C>T; p.A503V; 19:6710817-6710817	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3412G>A; p.E1138K; 19:6690706-6690706	skin	malignant_melanoma	Substitution - Missense
c.1508C>T; p.A503V; 19:6710817-6710817	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1975+8C>A; p.?; 19:6707792-6707792	liver	carcinoma	Unknown
c.1975+8C>A; p.?; 19:6707792-6707792	liver	carcinoma	Unknown
c.3998C>T; p.T1333I; 19:6684806-6684806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1971G>A; p.R657R; 19:6707804-6707804	skin	malignant_melanoma	Substitution - coding silent
c.4792_4794delGAG; p.E1598delE; 19:6678208-6678210	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.2982C>T; p.A994A; 19:6694603-6694603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1350C>A; p.G450G; 19:6711116-6711116	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.3133delG; p.A1045fs*26; 19:6694452-6694452	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3343G>A; p.D1115N; 19:6692971-6692971	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.4280G>A; p.R1427K; 19:6682011-6682011	skin	malignant_melanoma	Substitution - Missense
c.3343G>A; p.D1115N; 19:6692971-6692971	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4280G>A; p.R1427K; 19:6682011-6682011	skin	malignant_melanoma	Substitution - Missense
c.3343G>A; p.D1115N; 19:6692971-6692971	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3543G>A; p.M1181I; 19:6686849-6686849	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3017C>T; p.T1006I; 19:6694568-6694568	skin; leg	malignant_melanoma; superficial_spreading	Substitution - Missense
c.1519G>C; p.V507L; 19:6710806-6710806	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.849C>T; p.S283S; 19:6713434-6713434	skin	malignant_melanoma	Substitution - coding silent
c.4457-4G>A; p.?; 19:6679500-6679500	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2578C>T; p.L860F; 19:6697657-6697657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1310C>A; p.A437D; 19:6711156-6711156	thyroid	other; neoplasm	Substitution - Missense
c.4400T>A; p.F1467Y; 19:6680214-6680214	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3020C>T; p.P1007L; 19:6694565-6694565	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.604G>T; p.G202C; 19:6714244-6714244	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2441-1G>A; p.?; 19:6697795-6697795	skin	malignant_melanoma	Unknown
c.2602C>T; p.H868Y; 19:6697538-6697538	skin	malignant_melanoma	Substitution - Missense
c.3096G>T; p.E1032D; 19:6694489-6694489	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2036G>A; p.R679Q; 19:6707477-6707477	skin	malignant_melanoma	Substitution - Missense
c.2463C>T; p.F821F; 19:6697772-6697772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2463C>T; p.F821F; 19:6697772-6697772	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2036G>A; p.R679Q; 19:6707477-6707477	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4022C>A; p.T1341N; 19:6684782-6684782	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4538G>T; p.C1513F; 19:6679415-6679415	prostate	carcinoma	Substitution - Missense
c.1599G>A; p.A533A; 19:6710726-6710726	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2035C>T; p.R679*; 19:6707478-6707478	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.754G>T; p.E252*; 19:6714011-6714011	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.2804G>A; p.G935E; 19:6696652-6696652	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4440C>T; p.Y1480Y; 19:6680174-6680174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3317G>A; p.W1106*; 19:6692997-6692997	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2126G>A; p.R709H; 19:6707195-6707195	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4427C>A; p.A1476E; 19:6680187-6680187	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4836G>T; p.W1612C; 19:6678166-6678166	prostate	carcinoma	Substitution - Missense
c.2655C>T; p.T885T; 19:6697485-6697485	central_nervous_system; brain	glioma	Substitution - coding silent
c.4950C>T; p.G1650G; 19:6677924-6677924	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1758G>T; p.E586D; 19:6709771-6709771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4950C>T; p.G1650G; 19:6677924-6677924	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2364G>A; p.T788T; 19:6702203-6702203	skin	malignant_melanoma	Substitution - coding silent
c.2364G>A; p.T788T; 19:6702203-6702203	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2364G>A; p.T788T; 19:6702203-6702203	breast	carcinoma	Substitution - coding silent
c.4896C>T; p.P1632P; 19:6677978-6677978	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1100G>A; p.G367E; 19:6712527-6712527	skin	malignant_melanoma	Substitution - Missense
c.528G>A; p.K176K; 19:6714423-6714423	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4896C>T; p.P1632P; 19:6677978-6677978	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2460C>T; p.P820P; 19:6697775-6697775	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4896C>T; p.P1632P; 19:6677978-6677978	thyroid	other; neoplasm	Substitution - coding silent
c.2253G>A; p.L751L; 19:6702572-6702572	skin	malignant_melanoma	Substitution - coding silent
c.3687C>T; p.N1229N; 19:6686247-6686247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3959G>A; p.R1320Q; 19:6684998-6684998	skin	malignant_melanoma	Substitution - Missense
c.4438T>C; p.Y1480H; 19:6680176-6680176	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2670delC; p.K891fs*13; 19:6697470-6697470	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2670delC; p.K891fs*13; 19:6697470-6697470	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2799G>A; p.P933P; 19:6696657-6696657	pancreas	carcinoma	Substitution - coding silent
c.1847T>C; p.I616T; 19:6707928-6707928	pancreas	carcinoma	Substitution - Missense
c.2799G>A; p.P933P; 19:6696657-6696657	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3093G>A; p.T1031T; 19:6694492-6694492	skin	malignant_melanoma	Substitution - coding silent
c.3503G>T; p.S1168I; 19:6686889-6686889	liver	carcinoma	Substitution - Missense
c.2371A>G; p.M791V; 19:6702196-6702196	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3503G>T; p.S1168I; 19:6686889-6686889	liver	carcinoma	Substitution - Missense
c.4594C>T; p.R1532W; 19:6679161-6679161	breast	carcinoma	Substitution - Missense
c.4007G>A; p.G1336E; 19:6684797-6684797	skin	malignant_melanoma	Substitution - Missense
c.2786T>C; p.L929P; 19:6697354-6697354	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1821G>A; p.K607K; 19:6709708-6709708	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2786T>C; p.L929P; 19:6697354-6697354	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2964C>T; p.A988A; 19:6694621-6694621	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3900G>T; p.L1300L; 19:6685057-6685057	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3490-1G>T; p.?; 19:6686903-6686903	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.4866C>T; p.I1622I; 19:6678008-6678008	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1531G>A; p.G511S; 19:6710794-6710794	pleura	pulmonary_blastoma	Substitution - Missense
c.2149G>A; p.G717S; 19:6707172-6707172	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2678C>T; p.S893L; 19:6697462-6697462	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3807C>G; p.T1269T; 19:6686127-6686127	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4932A>G; p.K1644K; 19:6677942-6677942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3431C>T; p.T1144M; 19:6690687-6690687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2005C>T; p.R669*; 19:6707508-6707508	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3130G>T; p.G1044W; 19:6694455-6694455	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3474C>T; p.C1158C; 19:6690644-6690644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1131G>A; p.T377T; 19:6712395-6712395	skin	malignant_melanoma	Substitution - coding silent
c.3382G>C; p.E1128Q; 19:6692932-6692932	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2997G>A; p.R999R; 19:6694588-6694588	skin	malignant_melanoma	Substitution - coding silent
c.3656G>T; p.R1219L; 19:6686278-6686278	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4948G>T; p.G1650C; 19:6677926-6677926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3272A>G; p.N1091S; 19:6693042-6693042	liver	carcinoma	Substitution - Missense
c.1249C>A; p.Q417K; 19:6712277-6712277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.580G>A; p.D194N; 19:6714371-6714371	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1428C>T; p.L476L; 19:6711038-6711038	skin	malignant_melanoma	Substitution - coding silent
c.3272A>G; p.N1091S; 19:6693042-6693042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3402G>A; p.R1134R; 19:6690716-6690716	skin	malignant_melanoma	Substitution - coding silent
c.3272A>G; p.N1091S; 19:6693042-6693042	liver	carcinoma	Substitution - Missense
c.3962C>T; p.S1321L; 19:6684995-6684995	skin	malignant_melanoma	Substitution - Missense
c.2671_2672insC; p.K891fs*33; 19:6697468-6697469	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.2670_2671insC; p.K891fs*33; 19:6697469-6697470	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3303C>G; p.C1101W; 19:6693011-6693011	pancreas	carcinoma	Substitution - Missense
c.2224A>G; p.S742G; 19:6707097-6707097	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2670_2671insC; p.K891fs*33; 19:6697469-6697470	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2670_2671insC; p.K891fs*33; 19:6697469-6697470	breast	carcinoma	Insertion - Frameshift
c.3333delG; p.K1111fs*14; 19:6692981-6692981	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.4486G>A; p.E1496K; 19:6679467-6679467	skin	malignant_melanoma	Substitution - Missense
c.2834G>A; p.R945H; 19:6696622-6696622	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3550C>T; p.Q1184*; 19:6686842-6686842	central_nervous_system; brain	glioma	Substitution - Nonsense
c.442C>T; p.R148W; 19:6718156-6718156	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1432C>T; p.R478*; 19:6711034-6711034	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3756C>G; p.V1252V; 19:6686178-6686178	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1673C>T; p.S558F; 19:6710652-6710652	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1432C>T; p.R478*; 19:6711034-6711034	skin	malignant_melanoma	Substitution - Nonsense
c.1270-7_1270-6insC; p.?; 19:6711202-6711203	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.3803C>G; p.S1268C; 19:6686131-6686131	breast	carcinoma	Substitution - Missense
c.442C>T; p.R148W; 19:6718156-6718156	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1673C>T; p.S558F; 19:6710652-6710652	skin	malignant_melanoma	Substitution - Missense
c.1432C>T; p.R478*; 19:6711034-6711034	skin	malignant_melanoma	Substitution - Nonsense
c.4132C>T; p.Q1378*; 19:6684428-6684428	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4148C>A; p.T1383N; 19:6684412-6684412	skin	malignant_melanoma	Substitution - Missense
c.4752C>T; p.F1584F; 19:6678250-6678250	skin	malignant_melanoma	Substitution - coding silent
c.3237C>T; p.T1079T; 19:6693077-6693077	liver	carcinoma	Substitution - coding silent
c.3237C>T; p.T1079T; 19:6693077-6693077	liver	carcinoma	Substitution - coding silent
c.3237C>T; p.T1079T; 19:6693077-6693077	liver	carcinoma	Substitution - coding silent
c.1126G>C; p.V376L; 19:6712400-6712400	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3057G>A; p.T1019T; 19:6694528-6694528	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2073C>T; p.R691R; 19:6707248-6707248	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3057G>A; p.T1019T; 19:6694528-6694528	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2166G>T; p.K722N; 19:6707155-6707155	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4749G>A; p.T1583T; 19:6678253-6678253	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4749G>A; p.T1583T; 19:6678253-6678253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.340A>C; p.T114P; 19:6718340-6718340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4520G>A; p.R1507H; 19:6679433-6679433	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3343G>C; p.D1115H; 19:6692971-6692971	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4314C>T; p.F1438F; 19:6681977-6681977	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4325A>C; p.N1442T; 19:6681966-6681966	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.626A>G; p.Y209C; 19:6714222-6714222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1588C>T; p.R530C; 19:6710737-6710737	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4570G>A; p.D1524N; 19:6679185-6679185	skin	malignant_melanoma	Substitution - Missense
c.4765A>G; p.K1589E; 19:6678237-6678237	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1845+1G>A; p.?; 19:6709683-6709683	skin	malignant_melanoma	Unknown
c.1157G>A; p.R386Q; 19:6712369-6712369	oesophagus	carcinoma	Substitution - Missense
c.1588C>T; p.R530C; 19:6710737-6710737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2244G>T; p.R748S; 19:6707077-6707077	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2593G>A; p.E865K; 19:6697547-6697547	skin	malignant_melanoma	Substitution - Missense
c.2151C>T; p.G717G; 19:6707170-6707170	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.3070G>A; p.A1024T; 19:6694515-6694515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.115G>A; p.E39K; 19:6719363-6719363	skin	malignant_melanoma	Substitution - Missense
c.4129C>T; p.P1377S; 19:6684431-6684431	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3871G>A; p.E1291K; 19:6685086-6685086	skin	malignant_melanoma	Substitution - Missense
c.2794G>A; p.V932M; 19:6697346-6697346	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3704A>C; p.Y1235S; 19:6686230-6686230	liver	carcinoma	Substitution - Missense
c.1845+2T>C; p.?; 19:6709682-6709682	central_nervous_system; brain	glioma	Unknown
c.3704A>C; p.Y1235S; 19:6686230-6686230	liver	carcinoma	Substitution - Missense
c.2015C>T; p.S672F; 19:6707498-6707498	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4271G>A; p.G1424D; 19:6682020-6682020	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2663T>C; p.I888T; 19:6697477-6697477	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.4772G>A; p.R1591K; 19:6678230-6678230	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1706A>C; p.Q569P; 19:6709823-6709823	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1442G>A; p.R481H; 19:6711024-6711024	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2464G>A; p.E822K; 19:6697771-6697771	skin	malignant_melanoma	Substitution - Missense
c.1183G>A; p.D395N; 19:6712343-6712343	skin	malignant_melanoma	Substitution - Missense
c.4499G>A; p.G1500E; 19:6679454-6679454	skin	malignant_melanoma	Substitution - Missense
c.1452G>T; p.E484D; 19:6711014-6711014	breast	carcinoma	Substitution - Missense
c.4018G>A; p.G1340S; 19:6684786-6684786	skin	malignant_melanoma	Substitution - Missense
c.3324C>T; p.I1108I; 19:6692990-6692990	skin	malignant_melanoma	Substitution - coding silent
c.2096G>A; p.R699Q; 19:6707225-6707225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4114G>T; p.E1372*; 19:6684566-6684566	thyroid	other; neoplasm	Substitution - Nonsense
c.1803C>T; p.G601G; 19:6709726-6709726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1482C>T; p.I494I; 19:6710843-6710843	skin	malignant_melanoma	Substitution - coding silent
c.2860C>T; p.R954C; 19:6696596-6696596	skin	malignant_melanoma	Substitution - Missense
c.1809C>T; p.F603F; 19:6709720-6709720	skin	malignant_melanoma	Substitution - coding silent
c.2397C>T; p.I799I; 19:6702170-6702170	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.621A>G; p.R207R; 19:6714227-6714227	ovary	other; neoplasm	Substitution - coding silent
c.1692G>A; p.V564V; 19:6709837-6709837	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2355-1G>T; p.?; 19:6702213-6702213	thyroid	carcinoma	Unknown
c.1214G>T; p.G405V; 19:6712312-6712312	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4071C>T; p.T1357T; 19:6684609-6684609	skin	malignant_melanoma	Substitution - coding silent
c.4745G>A; p.R1582H; 19:6678257-6678257	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1971G>C; p.R657S; 19:6707804-6707804	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2235C>T; p.G745G; 19:6707086-6707086	skin	malignant_melanoma	Substitution - coding silent
c.1151C>T; p.A384V; 19:6712375-6712375	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1683C>T; p.G561G; 19:6710642-6710642	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.478G>T; p.G160C; 19:6718120-6718120	prostate	carcinoma	Substitution - Missense
c.1268C>G; p.T423R; 19:6712258-6712258	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4339T>C; p.Y1447H; 19:6681952-6681952	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4408G>A; p.E1470K; 19:6680206-6680206	breast	carcinoma	Substitution - Missense
c.2888C>A; p.P963Q; 19:6696441-6696441	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2214C>T; p.H738H; 19:6707107-6707107	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2851C>T; p.R951C; 19:6696605-6696605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1865A>G; p.K622R; 19:6707910-6707910	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1348G>T; p.G450C; 19:6711118-6711118	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2656G>A; p.V886I; 19:6697484-6697484	breast	carcinoma	Substitution - Missense
c.3833C>T; p.A1278V; 19:6685124-6685124	skin	malignant_melanoma	Substitution - Missense
c.20C>T; p.P7L; 19:6720570-6720570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1384C>T; p.R462C; 19:6711082-6711082	liver	carcinoma	Substitution - Missense
c.2583+1G>A; p.?; 19:6697651-6697651	skin	malignant_melanoma	Unknown
c.1376C>T; p.S459L; 19:6711090-6711090	breast	carcinoma	Substitution - Missense
c.1384C>T; p.R462C; 19:6711082-6711082	liver	carcinoma	Substitution - Missense
c.1278G>A; p.T426T; 19:6711188-6711188	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.848C>T; p.S283F; 19:6713435-6713435	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1278G>A; p.T426T; 19:6711188-6711188	breast	carcinoma	Substitution - coding silent
c.3938G>A; p.W1313*; 19:6685019-6685019	skin	malignant_melanoma	Substitution - Nonsense
c.2016C>T; p.S672S; 19:6707497-6707497	skin	malignant_melanoma	Substitution - coding silent
c.4471C>T; p.R1491W; 19:6679482-6679482	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3752C>T; p.P1251L; 19:6686182-6686182	skin	malignant_melanoma	Substitution - Missense
c.3372G>A; p.V1124V; 19:6692942-6692942	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3023C>T; p.S1008L; 19:6694562-6694562	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2368C>A; p.L790I; 19:6702199-6702199	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2129G>T; p.R710L; 19:6707192-6707192	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.131T>C; p.L44P; 19:6719347-6719347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3372G>A; p.V1124V; 19:6692942-6692942	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4982G>T; p.C1661F; 19:6677892-6677892	prostate	adenoma	Substitution - Missense
c.651C>G; p.V217V; 19:6714197-6714197	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1064T>A; p.I355N; 19:6712563-6712563	skin	malignant_melanoma	Substitution - Missense
c.2487C>T; p.F829F; 19:6697748-6697748	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3952C>T; p.L1318F; 19:6685005-6685005	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.709G>A; p.E237K; 19:6714056-6714056	skin	malignant_melanoma	Substitution - Missense
c.4819C>T; p.L1607F; 19:6678183-6678183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.651C>G; p.V217V; 19:6714197-6714197	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4041G>A; p.M1347I; 19:6684639-6684639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3940G>A; p.E1314K; 19:6685017-6685017	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.983C>T; p.A328V; 19:6713209-6713209	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3130G>A; p.G1044R; 19:6694455-6694455	skin	malignant_melanoma	Substitution - Missense
c.1997C>T; p.A666V; 19:6707516-6707516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1604A>G; p.Y535C; 19:6710721-6710721	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3201G>A; p.A1067A; 19:6693441-6693441	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1968G>A; p.Q656Q; 19:6707807-6707807	skin	malignant_melanoma	Substitution - coding silent
c.2088C>T; p.D696D; 19:6707233-6707233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4719G>A; p.S1573S; 19:6678283-6678283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.80C>T; p.S27F; 19:6719398-6719398	skin	malignant_melanoma	Substitution - Missense
c.4925A>G; p.N1642S; 19:6677949-6677949	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.299A>G; p.K100R; 19:6718381-6718381	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.15A>G; p.S5S; 19:6720575-6720575	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.594C>T; p.L198L; 19:6714357-6714357	skin	malignant_melanoma	Substitution - coding silent
c.2686G>A; p.V896I; 19:6697454-6697454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2981C>G; p.A994G; 19:6694604-6694604	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1706A>G; p.Q569R; 19:6709823-6709823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4558A>T; p.I1520L; 19:6679197-6679197	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.424G>C; p.G142R; 19:6718256-6718256	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1804G>A; p.V602M; 19:6709725-6709725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2866G>A; p.G956R; 19:6696463-6696463	liver	carcinoma	Substitution - Missense
c.3394G>A; p.G1132R; 19:6690724-6690724	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3394G>A; p.G1132R; 19:6690724-6690724	skin	malignant_melanoma	Substitution - Missense
c.3111C>T; p.F1037F; 19:6694474-6694474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1444G>A; p.A482T; 19:6711022-6711022	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1444G>A; p.A482T; 19:6711022-6711022	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.514G>A; p.G172S; 19:6714437-6714437	skin	malignant_melanoma	Substitution - Missense
c.2915C>T; p.P972L; 19:6696414-6696414	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1444G>A; p.A482T; 19:6711022-6711022	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1113C>T; p.D371D; 19:6712514-6712514	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2327A>C; p.E776A; 19:6702498-6702498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2421G>C; p.V807V; 19:6702146-6702146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3571A>G; p.I1191V; 19:6686821-6686821	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4311C>T; p.A1437A; 19:6681980-6681980	thyroid	other; neoplasm	Substitution - coding silent
c.3382G>T; p.E1128*; 19:6692932-6692932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.304C>G; p.R102G; 19:6718376-6718376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3382G>T; p.E1128*; 19:6692932-6692932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3382G>T; p.E1128*; 19:6692932-6692932	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.692G>A; p.S231N; 19:6714073-6714073	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1125C>T; p.F375F; 19:6712401-6712401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.676G>A; p.E226K; 19:6714172-6714172	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1111G>A; p.D371N; 19:6712516-6712516	skin	malignant_melanoma	Substitution - Missense
c.4322G>A; p.R1441K; 19:6681969-6681969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1601A>G; p.Y534C; 19:6710724-6710724	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1403G>A; p.G468E; 19:6711063-6711063	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2006G>A; p.R669Q; 19:6707507-6707507	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4323G>A; p.R1441R; 19:6681968-6681968	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.147G>A; p.A49A; 19:6719331-6719331	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4323G>A; p.R1441R; 19:6681968-6681968	skin	malignant_melanoma	Substitution - coding silent
c.4323G>A; p.R1441R; 19:6681968-6681968	skin	malignant_melanoma	Substitution - coding silent
c.2083G>A; p.E695K; 19:6707238-6707238	stomach	adenocarcinoma	Substitution - Missense
c.2048-4G>A; p.?; 19:6707277-6707277	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.452C>T; p.T151I; 19:6718146-6718146	skin	malignant_melanoma	Substitution - Missense
c.2203C>T; p.R735W; 19:6707118-6707118	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3761G>A; p.R1254H; 19:6686173-6686173	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3761G>A; p.R1254H; 19:6686173-6686173	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2827G>A; p.A943T; 19:6696629-6696629	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3217G>A; p.A1073T; 19:6693425-6693425	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4083C>T; p.F1361F; 19:6684597-6684597	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4083C>T; p.F1361F; 19:6684597-6684597	skin	malignant_melanoma	Substitution - coding silent
c.3318G>A; p.W1106*; 19:6692996-6692996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4059_4060insA; p.D1354fs*6; 19:6684620-6684621	liver	carcinoma	Insertion - Frameshift
c.976G>A; p.V326M; 19:6713216-6713216	pancreas	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation