Entrez Gene

Basic Information
Gene ID	5099
Name	PCDH7
Synonymous	protocadherin 7;PCDH7;protocadherin 7
Definition	BH-protocadherin (brain-heart)\|brain-heart protocadherin\|protein phosphatase 1, regulatory subunit 120\|protocadherin-7
Position	4p15
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1512C>T; p.G504G; 4:30723075-30723075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1406C>G; p.S469W; 4:30722969-30722969	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>G; p.S469W; 4:30722969-30722969	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>G; p.S469W; 4:30722969-30722969	large_intestine; colon	carcinoma	Substitution - Missense
c.1406C>G; p.S469W; 4:30722969-30722969	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1185C>T; p.I395I; 4:30722748-30722748	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1185C>T; p.I395I; 4:30722748-30722748	breast	carcinoma	Substitution - coding silent
c.1185C>T; p.I395I; 4:30722748-30722748	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1526C>T; p.T509M; 4:30723089-30723089	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1317C>A; p.F439L; 4:30722880-30722880	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.435G>A; p.S145S; 4:30721857-30721857	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1612G>A; p.D538N; 4:30723175-30723175	breast	carcinoma	Substitution - Missense
c.1762A>G; p.N588D; 4:30723325-30723325	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2307G>T; p.R769S; 4:30723870-30723870	liver	carcinoma	Substitution - Missense
c.3601T>C; p.*1201Q; 4:31142847-31142847	stomach	carcinoma; intestinal_adenocarcinoma	Nonstop extension
c.3601T>C; p.*1201Q; 4:31142847-31142847	stomach	adenocarcinoma	Nonstop extension
c.2490A>T; p.R830S; 4:30724053-30724053	large_intestine	adenoma	Substitution - Missense
c.2827C>T; p.P943S; 4:30724390-30724390	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1843A>G; p.T615A; 4:30723406-30723406	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1011G>T; p.T337T; 4:30722574-30722574	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1011G>T; p.T337T; 4:30722574-30722574	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2590G>A; p.G864S; 4:30724153-30724153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3000C>G; p.Y1000*; 4:30724563-30724563	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1255G>A; p.V419M; 4:30722818-30722818	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1255G>A; p.V419M; 4:30722818-30722818	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2000C>T; p.A667V; 4:30723563-30723563	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3346C>T; p.Q1116*; 4:31142592-31142592	skin	malignant_melanoma	Substitution - Nonsense
c.207G>T; p.E69D; 4:30721629-30721629	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2637A>T; p.Q879H; 4:30724200-30724200	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.483T>G; p.L161L; 4:30721905-30721905	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1465G>A; p.G489S; 4:30723028-30723028	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1698C>T; p.D566D; 4:30723261-30723261	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3477G>A; p.E1159E; 4:31142723-31142723	skin	malignant_melanoma	Substitution - coding silent
c.2687C>T; p.S896F; 4:30724250-30724250	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.1835G>A; p.G612E; 4:30723398-30723398	skin; trunk	malignant_melanoma	Substitution - Missense
c.2017C>T; p.P673S; 4:30723580-30723580	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2926G>T; p.D976Y; 4:30724489-30724489	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.310G>A; p.D104N; 4:30721732-30721732	liver	carcinoma	Substitution - Missense
c.310G>A; p.D104N; 4:30721732-30721732	liver	carcinoma	Substitution - Missense
c.3270T>A; p.T1090T; 4:31142516-31142516	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.257C>T; p.T86M; 4:30721679-30721679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3259G>T; p.G1087W; 4:31142505-31142505	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2978G>A; p.G993E; 4:30724541-30724541	liver	carcinoma	Substitution - Missense
c.2978G>A; p.G993E; 4:30724541-30724541	liver	carcinoma	Substitution - Missense
c.2793G>A; p.G931G; 4:30724356-30724356	stomach	adenocarcinoma	Substitution - coding silent
c.1252G>A; p.D418N; 4:30722815-30722815	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.190G>A; p.V64M; 4:30721612-30721612	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1131C>A; p.P377P; 4:30722694-30722694	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.412G>A; p.D138N; 4:30721834-30721834	skin	malignant_melanoma	Substitution - Missense
c.1408A>G; p.S470G; 4:30722971-30722971	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.535C>T; p.R179C; 4:30721957-30721957	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2445C>T; p.T815T; 4:30724008-30724008	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3173C>T; p.A1058V; 4:30920292-30920292	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3173C>T; p.A1058V; 4:30920292-30920292	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1251C>T; p.G417G; 4:30722814-30722814	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3173C>T; p.A1058V; 4:30920292-30920292	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3006T>A; p.C1002*; 4:30724569-30724569	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2674delA; p.N893fs*124; 4:30724237-30724237	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2047_2048insT; p.V685fs*4; 4:30723610-30723611	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.83C>T; p.A28V; 4:30721505-30721505	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1867C>T; p.R623W; 4:30723430-30723430	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3119T>C; p.L1040P; 4:30920238-30920238	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2529G>T; p.T843T; 4:30724092-30724092	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.852C>T; p.R284R; 4:30722415-30722415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.964G>A; p.V322I; 4:30722527-30722527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2734C>T; p.P912S; 4:30724297-30724297	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2447A>T; p.Q816L; 4:30724010-30724010	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.851G>A; p.R284H; 4:30722414-30722414	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.851G>A; p.R284H; 4:30722414-30722414	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3085C>T; p.Q1029*; 4:30920204-30920204	breast	carcinoma	Substitution - Nonsense
c.1934G>A; p.G645E; 4:30723497-30723497	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1306delA; p.K437fs*38; 4:30722869-30722869	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2805C>T; p.S935S; 4:30724368-30724368	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2253T>C; p.S751S; 4:30723816-30723816	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.485A>G; p.Y162C; 4:30721907-30721907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3437A>G; p.N1146S; 4:31142683-31142683	bone; humerus	chondrosarcoma	Substitution - Missense
c.2122C>T; p.P708S; 4:30723685-30723685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2386G>C; p.V796L; 4:30723949-30723949	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2766G>T; p.E922D; 4:30724329-30724329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1513G>A; p.E505K; 4:30723076-30723076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2570G>T; p.C857F; 4:30724133-30724133	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3194A>T; p.N1065I; 4:30920313-30920313	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.736C>T; p.L246L; 4:30722158-30722158	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.393C>G; p.V131V; 4:30721815-30721815	central_nervous_system; brain	glioma	Substitution - coding silent
c.2621A>T; p.D874V; 4:30724184-30724184	skin	malignant_melanoma	Substitution - Missense
c.2668G>C; p.D890H; 4:30724231-30724231	central_nervous_system; brain	glioma	Substitution - Missense
c.2655A>C; p.K885N; 4:30724218-30724218	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2367C>A; p.H789Q; 4:30723930-30723930	central_nervous_system; brain	glioma	Substitution - Missense
c.2745G>A; p.Q915Q; 4:30724308-30724308	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1479_1481delGGA; p.E494delE; 4:30723042-30723044	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - In frame
c.1132C>A; p.L378I; 4:30722695-30722695	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2226C>T; p.F742F; 4:30723789-30723789	skin	malignant_melanoma	Substitution - coding silent
c.1371C>A; p.V457V; 4:30722934-30722934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1424T>C; p.I475T; 4:30722987-30722987	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.176C>A; p.T59N; 4:30721598-30721598	liver	carcinoma	Substitution - Missense
c.176C>A; p.T59N; 4:30721598-30721598	liver	carcinoma	Substitution - Missense
c.719G>A; p.R240H; 4:30722141-30722141	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2950G>A; p.V984M; 4:30724513-30724513	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1690G>A; p.A564T; 4:30723253-30723253	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.158C>T; p.S53L; 4:30721580-30721580	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3366C>T; p.F1122F; 4:31142612-31142612	skin	malignant_melanoma	Substitution - coding silent
c.3454delA; p.K1153fs*2; 4:31142700-31142700	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1464C>T; p.F488F; 4:30723027-30723027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3449T>C; p.L1150P; 4:31142695-31142695	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2773T>A; p.S925T; 4:30724336-30724336	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3172G>A; p.A1058T; 4:30920291-30920291	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1157C>T; p.A386V; 4:30722720-30722720	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.894C>T; p.Y298Y; 4:30722457-30722457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.925C>T; p.R309W; 4:30722488-30722488	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.172G>A; p.V58M; 4:30721594-30721594	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.65C>T; p.P22L; 4:30721487-30721487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3376G>T; p.D1126Y; 4:31142622-31142622	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.896T>C; p.V299A; 4:30722459-30722459	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3040C>T; p.R1014C; 4:30920159-30920159	skin	malignant_melanoma	Substitution - Missense
c.3417C>T; p.A1139A; 4:31142663-31142663	kidney	other; neoplasm	Substitution - coding silent
c.2081C>G; p.T694R; 4:30723644-30723644	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1137G>C; p.K379N; 4:30722700-30722700	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1784A>G; p.D595G; 4:30723347-30723347	NS	malignant_melanoma	Substitution - Missense
c.204G>T; p.L68L; 4:30721626-30721626	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1137G>T; p.K379N; 4:30722700-30722700	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.883C>T; p.Q295*; 4:30722446-30722446	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2904delA; p.K970fs*47; 4:30724467-30724467	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1004G>A; p.R335H; 4:30722567-30722567	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2904delA; p.K970fs*47; 4:30724467-30724467	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2904delA; p.K970fs*47; 4:30724467-30724467	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1627G>T; p.D543Y; 4:30723190-30723190	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2670C>G; p.D890E; 4:30724233-30724233	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2260G>T; p.V754F; 4:30723823-30723823	small_intestine	carcinoid-endocrine_tumour	Substitution - Missense
c.825C>A; p.A275A; 4:30722388-30722388	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2012G>A; p.G671E; 4:30723575-30723575	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1732G>T; p.V578L; 4:30723295-30723295	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.630C>T; p.G210G; 4:30722052-30722052	ovary	other; neoplasm	Substitution - coding silent
c.2489G>T; p.R830I; 4:30724052-30724052	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.786-7G>A; p.?; 4:30722342-30722342	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1022G>A; p.R341H; 4:30722585-30722585	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.926G>A; p.R309Q; 4:30722489-30722489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1618G>A; p.D540N; 4:30723181-30723181	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.500C>T; p.A167V; 4:30721922-30721922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2605delA; p.D871fs*146; 4:30724168-30724168	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2157G>C; p.V719V; 4:30723720-30723720	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2252G>T; p.S751I; 4:30723815-30723815	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.387T>A; p.G129G; 4:30721809-30721809	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3268A>T; p.T1090S; 4:31142514-31142514	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2149G>T; p.A717S; 4:30723712-30723712	breast	carcinoma	Substitution - Missense
c.322T>C; p.C108R; 4:30721744-30721744	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.357C>A; p.P119P; 4:30721779-30721779	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.322T>C; p.C108R; 4:30721744-30721744	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1380G>A; p.A460A; 4:30722943-30722943	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1660C>T; p.Q554*; 4:30723223-30723223	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.984C>T; p.R328R; 4:30722547-30722547	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.984C>T; p.R328R; 4:30722547-30722547	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1355G>A; p.R452Q; 4:30722918-30722918	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2881C>A; p.H961N; 4:30724444-30724444	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1856C>T; p.A619V; 4:30723419-30723419	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.128C>A; p.P43H; 4:30721550-30721550	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1281C>T; p.S427S; 4:30722844-30722844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2802G>A; p.R934R; 4:30724365-30724365	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2802G>A; p.R934R; 4:30724365-30724365	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1464C>A; p.F488L; 4:30723027-30723027	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1964G>A; p.R655Q; 4:30723527-30723527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2176G>A; p.D726N; 4:30723739-30723739	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2176G>A; p.D726N; 4:30723739-30723739	breast	carcinoma	Substitution - Missense
c.3271C>T; p.R1091C; 4:31142517-31142517	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1964G>A; p.R655Q; 4:30723527-30723527	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.748G>A; p.D250N; 4:30722170-30722170	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1141G>T; p.G381W; 4:30722704-30722704	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.277C>A; p.R93S; 4:30721699-30721699	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3056C>A; p.S1019Y; 4:30920175-30920175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1928A>G; p.D643G; 4:30723491-30723491	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.944A>G; p.E315G; 4:30722507-30722507	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1581G>A; p.L527L; 4:30723144-30723144	skin	malignant_melanoma	Substitution - coding silent
c.1374C>G; p.I458M; 4:30722937-30722937	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2639_2640insGCAT; p.D882fs*2; 4:30724202-30724203	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.827C>T; p.P276L; 4:30722390-30722390	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2639_2640insGCAT; p.D882fs*2; 4:30724202-30724203	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.827C>T; p.P276L; 4:30722390-30722390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.400C>T; p.L134F; 4:30721822-30721822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1565A>G; p.E522G; 4:30723128-30723128	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2081C>A; p.T694K; 4:30723644-30723644	pancreas	carcinoma	Substitution - Missense
c.1277C>T; p.A426V; 4:30722840-30722840	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1086C>T; p.N362N; 4:30722649-30722649	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2621A>C; p.D874A; 4:30724184-30724184	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2081C>A; p.T694K; 4:30723644-30723644	pancreas	carcinoma	Substitution - Missense
c.3506_3507insA; p.N1169fs*2; 4:31142752-31142753	prostate	carcinoma	Insertion - Frameshift
c.2685A>G; p.K895K; 4:30724248-30724248	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2685A>G; p.K895K; 4:30724248-30724248	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3272G>A; p.R1091H; 4:31142518-31142518	prostate	carcinoma	Substitution - Missense
c.2795G>T; p.R932L; 4:30724358-30724358	liver	carcinoma	Substitution - Missense
c.1406C>T; p.S469L; 4:30722969-30722969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3033+5G>A; p.?; 4:30724601-30724601	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Unknown
c.1502A>G; p.N501S; 4:30723065-30723065	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2413C>A; p.Q805K; 4:30723976-30723976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3181C>G; p.L1061V; 4:30920300-30920300	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.3434G>A; p.R1145H; 4:31142680-31142680	central_nervous_system; brain	glioma	Substitution - Missense
c.3434G>A; p.R1145H; 4:31142680-31142680	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.516C>T; p.F172F; 4:30721938-30721938	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2431C>G; p.H811D; 4:30723994-30723994	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1310delA; p.K437fs*38; 4:30722873-30722873	large_intestine; colon	carcinoma	Deletion - Frameshift
c.1901A>G; p.N634S; 4:30723464-30723464	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2720T>C; p.V907A; 4:30724283-30724283	liver	carcinoma	Substitution - Missense
c.2720T>C; p.V907A; 4:30724283-30724283	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3117G>A; p.G1039G; 4:30920236-30920236	kidney	other; neoplasm	Substitution - coding silent
c.1023C>T; p.R341R; 4:30722586-30722586	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.973C>T; p.R325W; 4:30722536-30722536	skin	malignant_melanoma	Substitution - Missense
c.1829C>A; p.P610H; 4:30723392-30723392	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3173C>A; p.A1058E; 4:30920292-30920292	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2935C>A; p.P979T; 4:30724498-30724498	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.987G>T; p.E329D; 4:30722550-30722550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3329C>T; p.P1110L; 4:31142575-31142575	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2795G>A; p.R932Q; 4:30724358-30724358	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.850C>T; p.R284C; 4:30722413-30722413	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3329C>T; p.P1110L; 4:31142575-31142575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3395A>G; p.E1132G; 4:31142641-31142641	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2612A>C; p.D871A; 4:30724175-30724175	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1210G>A; p.D404N; 4:30722773-30722773	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1082A>G; p.E361G; 4:30722645-30722645	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3269C>A; p.T1090N; 4:31142515-31142515	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1082A>G; p.E361G; 4:30722645-30722645	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1310A>C; p.K437T; 4:30722873-30722873	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2617G>A; p.E873K; 4:30724180-30724180	large_intestine; colon	adenoma	Substitution - Missense
c.3313C>T; p.P1105S; 4:31142559-31142559	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.2358T>A; p.T786T; 4:30723921-30723921	liver	carcinoma	Substitution - coding silent
c.150C>T; p.N50N; 4:30721572-30721572	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2358T>A; p.T786T; 4:30723921-30723921	liver	carcinoma	Substitution - coding silent
c.3425T>A; p.M1142K; 4:31142671-31142671	liver	carcinoma	Substitution - Missense
c.1103T>C; p.I368T; 4:30722666-30722666	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3425T>A; p.M1142K; 4:31142671-31142671	liver	carcinoma	Substitution - Missense
c.2095A>T; p.K699*; 4:30723658-30723658	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3408T>A; p.N1136K; 4:31142654-31142654	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.2617G>C; p.E873Q; 4:30724180-30724180	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3376G>A; p.D1126N; 4:31142622-31142622	skin	malignant_melanoma	Substitution - Missense
c.1644C>A; p.T548T; 4:30723207-30723207	liver	carcinoma	Substitution - coding silent
c.799G>A; p.E267K; 4:30722362-30722362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1644C>A; p.T548T; 4:30723207-30723207	liver	carcinoma	Substitution - coding silent
c.3261G>T; p.G1087G; 4:31142507-31142507	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3227-1G>C; p.?; 4:31142472-31142472	oesophagus	carcinoma; adenocarcinoma	Unknown
c.931C>T; p.L311L; 4:30722494-30722494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3433C>T; p.R1145C; 4:31142679-31142679	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3449T>A; p.L1150Q; 4:31142695-31142695	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1011G>A; p.T337T; 4:30722574-30722574	thyroid	carcinoma; anaplastic_carcinoma	Substitution - coding silent
c.2886C>T; p.P962P; 4:30724449-30724449	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3528T>G; p.D1176E; 4:31142774-31142774	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1536G>T; p.A512A; 4:30723099-30723099	skin	malignant_melanoma	Substitution - coding silent
c.2886C>T; p.P962P; 4:30724449-30724449	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2823C>A; p.G941G; 4:30724386-30724386	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.117C>T; p.A39A; 4:30721539-30721539	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.900C>T; p.F300F; 4:30722463-30722463	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2078C>T; p.P693L; 4:30723641-30723641	skin	malignant_melanoma	Substitution - Missense
c.900C>T; p.F300F; 4:30722463-30722463	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3315G>A; p.P1105P; 4:31142561-31142561	breast	carcinoma	Substitution - coding silent
c.1284C>T; p.D428D; 4:30722847-30722847	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3498C>T; p.F1166F; 4:31142744-31142744	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2121A>C; p.P707P; 4:30723684-30723684	breast	carcinoma	Substitution - coding silent
c.3163A>G; p.R1055G; 4:30920282-30920282	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.600G>A; p.A200A; 4:30722022-30722022	liver	carcinoma	Substitution - coding silent
c.600G>A; p.A200A; 4:30722022-30722022	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2007T>G; p.D669E; 4:30723570-30723570	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1807G>C; p.E603Q; 4:30723370-30723370	ovary	other; neoplasm	Substitution - Missense
c.3426G>C; p.M1142I; 4:31142672-31142672	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.179G>A; p.G60E; 4:30721601-30721601	skin	malignant_melanoma	Substitution - Missense
c.999G>T; p.Q333H; 4:30722562-30722562	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3508G>T; p.E1170*; 4:31142754-31142754	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3011C>T; p.T1004I; 4:30724574-30724574	skin; trunk	malignant_melanoma	Substitution - Missense
c.1561G>A; p.A521T; 4:30723124-30723124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1374C>T; p.I458I; 4:30722937-30722937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1047C>T; p.T349T; 4:30722610-30722610	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1207C>T; p.R403*; 4:30722770-30722770	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1656C>T; p.R552R; 4:30723219-30723219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2213G>A; p.G738E; 4:30723776-30723776	liver	carcinoma	Substitution - Missense
c.2860C>T; p.P954S; 4:30724423-30724423	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2213G>A; p.G738E; 4:30723776-30723776	liver	carcinoma	Substitution - Missense
c.2623T>C; p.F875L; 4:30724186-30724186	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2511G>A; p.V837V; 4:30724074-30724074	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3283G>A; p.E1095K; 4:31142529-31142529	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3174G>C; p.A1058A; 4:30920293-30920293	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2667G>T; p.K889N; 4:30724230-30724230	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2726C>A; p.A909D; 4:30724289-30724289	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2669A>G; p.D890G; 4:30724232-30724232	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]