Entrez Gene

Basic Information
Gene ID	2177
Name	FANCD2
Synonymous	Fanconi anemia, complementation group D2;FANCD2;Fanconi anemia, complementation group D2
Definition	Fanconi anemia group D2 protein
Position	3p26
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.436C>T; p.Q146*; 3:10035231-10035231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3860G>T; p.S1287I; 3:10093295-10093295	large_intestine; colon	NS	Substitution - Missense
c.1318C>T; p.Q440*; 3:10047956-10047956	breast	carcinoma	Substitution - Nonsense
c.3960C>T; p.H1320H; 3:10094360-10094360	skin	malignant_melanoma	Substitution - coding silent
c.2335C>T; p.R779C; 3:10065929-10065929	pancreas	carcinoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2665delA; p.N890fs*14; 3:10073312-10073312	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3124C>T; p.H1042Y; 3:10081364-10081364	breast	carcinoma	Substitution - Missense
c.688G>T; p.E230*; 3:10039838-10039838	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3378C>A; p.P1126P; 3:10087176-10087176	skin	malignant_melanoma	Substitution - coding silent
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2180C>T; p.P727L; 3:10065405-10065405	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Unknown
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	soft_tissue; striated_muscle	Overgrowth_syndrome	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	kidney	other; neoplasm	Substitution - Missense
c.1214A>G; p.N405S; 3:10046659-10046659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3987A>G; p.E1329E; 3:10095223-10095223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2133T>G; p.D711E; 3:10064840-10064840	liver	carcinoma	Substitution - Missense
c.2104C>T; p.L702L; 3:10064811-10064811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2133T>G; p.D711E; 3:10064840-10064840	liver	carcinoma	Substitution - Missense
c.4286C>T; p.S1429F; 3:10098820-10098820	skin	malignant_melanoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.167G>T; p.G56V; 3:10032934-10032934	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2725G>T; p.G909W; 3:10074539-10074539	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2102C>T; p.P701L; 3:10064809-10064809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1278+3_1278+5delAAG; p.?; 3:10046726-10046728	lung	carcinoid-endocrine_tumour; typical	Unknown
c.2016G>A; p.P672P; 3:10064424-10064424	skin	malignant_melanoma	Substitution - coding silent
c.4342A>G; p.S1448G; 3:10098876-10098876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.69C>T; p.T23T; 3:10032836-10032836	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.583A>G; p.K195E; 3:10039733-10039733	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3609T>C; p.I1203I; 3:10088876-10088876	breast	carcinoma	Substitution - coding silent
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2009T>C; p.V670A; 3:10064417-10064417	thyroid	carcinoma	Substitution - Missense
c.2095C>T; p.L699F; 3:10064802-10064802	breast	carcinoma	Substitution - Missense
c.3628G>T; p.E1210*; 3:10088895-10088895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1489C>G; p.L497V; 3:10049449-10049449	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1531G>A; p.A511T; 3:10049491-10049491	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1820G>T; p.C607F; 3:10062204-10062204	thyroid	other; neoplasm	Substitution - Missense
c.1142A>G; p.D381G; 3:10046587-10046587	bone; scapula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.935T>G; p.L312W; 3:10043096-10043096	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1306C>T; p.L436L; 3:10047944-10047944	breast	carcinoma	Substitution - coding silent
c.591G>C; p.M197I; 3:10039741-10039741	skin	malignant_melanoma	Substitution - Missense
c.2169-8C>T; p.?; 3:10065386-10065386	skin; trunk	malignant_melanoma; nodular	Unknown
c.3962G>A; p.R1321Q; 3:10094362-10094362	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1368C>G; p.L456L; 3:10048006-10048006	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1161C>A; p.I387I; 3:10046606-10046606	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.871G>A; p.A291T; 3:10042646-10042646	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1183A>T; p.T395S; 3:10046628-10046628	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.311T>C; p.I104T; 3:10034732-10034732	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3195G>A; p.L1065L; 3:10081435-10081435	central_nervous_system; brain	glioma	Substitution - coding silent
c.2774_2775insT; p.R926fs*6; 3:10074588-10074589	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.2866G>C; p.E956Q; 3:10078087-10078087	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2774_2775insT; p.R926fs*6; 3:10074588-10074589	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.813G>T; p.S271S; 3:10042588-10042588	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3840C>G; p.N1280K; 3:10092243-10092243	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1280T>C; p.V427A; 3:10047918-10047918	skin	malignant_melanoma	Substitution - Missense
c.1122A>G; p.V374V; 3:10043852-10043852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1122A>G; p.V374V; 3:10043852-10043852	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1948G>T; p.E650*; 3:10064356-10064356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1948G>T; p.E650*; 3:10064356-10064356	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1179T>C; p.T393T; 3:10046624-10046624	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1179T>C; p.T393T; 3:10046624-10046624	kidney	other; neoplasm	Substitution - coding silent
c.1106A>G; p.E369G; 3:10043836-10043836	central_nervous_system; brain	glioma	Substitution - Missense
c.283G>T; p.E95*; 3:10034704-10034704	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2860G>A; p.A954T; 3:10078081-10078081	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.813G>A; p.S271S; 3:10042588-10042588	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.813G>A; p.S271S; 3:10042588-10042588	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.813G>A; p.S271S; 3:10042588-10042588	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3106-10T>G; p.?; 3:10081336-10081336	breast	carcinoma	Unknown
c.2401T>C; p.C801R; 3:10067224-10067224	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3584G>A; p.S1195N; 3:10088851-10088851	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1306C>A; p.L436M; 3:10047944-10047944	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1642_1643delAG; p.S548fs*6; 3:10052483-10052484	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1696A>G; p.T566A; 3:10060333-10060333	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4370A>G; p.Y1457C; 3:10098904-10098904	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2527T>A; p.F843I; 3:10072903-10072903	breast	carcinoma	Substitution - Missense
c.1509C>T; p.N503N; 3:10049469-10049469	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1294T>C; p.C432R; 3:10047932-10047932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1778C>T; p.P593L; 3:10062162-10062162	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2609G>A; p.R870K; 3:10073256-10073256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4309G>T; p.G1437C; 3:10098843-10098843	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2516C>T; p.P839L; 3:10072892-10072892	skin	malignant_melanoma	Substitution - Missense
c.2054G>A; p.G685E; 3:10064761-10064761	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2613A>C; p.K871N; 3:10073260-10073260	thyroid	other; neoplasm	Substitution - Missense
c.2054G>C; p.G685A; 3:10064761-10064761	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2613A>C; p.K871N; 3:10073260-10073260	liver	carcinoma	Substitution - Missense
c.2613A>C; p.K871N; 3:10073260-10073260	liver	carcinoma	Substitution - Missense
c.1759G>A; p.A587T; 3:10060396-10060396	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2045C>T; p.A682V; 3:10064752-10064752	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1015G>A; p.G339S; 3:10043509-10043509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2355C>G; p.L785L; 3:10065949-10065949	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4403C>T; p.P1468L; 3:10098937-10098937	skin	malignant_melanoma	Substitution - Missense
c.958C>A; p.Q320K; 3:10043119-10043119	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.42G>C; p.E14D; 3:10028699-10028699	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2693C>A; p.S898Y; 3:10073340-10073340	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2257G>A; p.D753N; 3:10065482-10065482	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3896G>A; p.R1299H; 3:10094296-10094296	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3187C>T; p.Q1063*; 3:10081427-10081427	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3926G>T; p.C1309F; 3:10094326-10094326	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3715A>G; p.M1239V; 3:10090323-10090323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2138G>A; p.G713D; 3:10064845-10064845	thyroid	carcinoma	Substitution - Missense
c.3333C>T; p.L1111L; 3:10085920-10085920	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1932G>T; p.L644L; 3:10063896-10063896	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2097C>T; p.L699L; 3:10064804-10064804	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2776C>T; p.R926*; 3:10074590-10074590	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2192C>T; p.A731V; 3:10065417-10065417	breast	carcinoma	Substitution - Missense
c.906G>A; p.R302R; 3:10043067-10043067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1519A>G; p.M507V; 3:10049479-10049479	thyroid	carcinoma	Substitution - Missense
c.1827G>T; p.Q609H; 3:10062211-10062211	kidney	other; neoplasm	Substitution - Missense
c.2886C>G; p.P962P; 3:10078107-10078107	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3667T>C; p.F1223L; 3:10088934-10088934	skin	malignant_melanoma	Substitution - Missense
c.3457G>A; p.E1153K; 3:10087255-10087255	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 3:10087255-10087255	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 3:10087255-10087255	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 3:10087255-10087255	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 3:10087255-10087255	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 3:10087255-10087255	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 3:10087255-10087255	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 3:10087255-10087255	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3457G>A; p.E1153K; 3:10087255-10087255	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2623G>A; p.D875N; 3:10073270-10073270	skin; trunk	malignant_melanoma	Substitution - Missense
c.3457G>A; p.E1153K; 3:10087255-10087255	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3871C>A; p.L1291M; 3:10093306-10093306	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.481T>G; p.F161V; 3:10036329-10036329	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2406G>T; p.Q802H; 3:10067229-10067229	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3817C>T; p.R1273*; 3:10092220-10092220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2391A>G; p.V797V; 3:10067214-10067214	breast	carcinoma	Substitution - coding silent
c.2406G>T; p.Q802H; 3:10067229-10067229	breast	carcinoma	Substitution - Missense
c.2406G>T; p.Q802H; 3:10067229-10067229	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.1528A>C; p.N510H; 3:10049488-10049488	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2406G>T; p.Q802H; 3:10067229-10067229	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.2406G>T; p.Q802H; 3:10067229-10067229	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3817C>T; p.R1273*; 3:10092220-10092220	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2406G>T; p.Q802H; 3:10067229-10067229	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2391A>G; p.V797V; 3:10067214-10067214	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2406G>T; p.Q802H; 3:10067229-10067229	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2914C>A; p.L972I; 3:10078135-10078135	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2610G>T; p.R870S; 3:10073257-10073257	breast	carcinoma	Substitution - Missense
c.617A>G; p.N206S; 3:10039767-10039767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1588C>T; p.R530*; 3:10052429-10052429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.655C>T; p.L219L; 3:10039805-10039805	skin	malignant_melanoma	Substitution - coding silent
c.809T>C; p.L270S; 3:10042584-10042584	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1129C>T; p.H377Y; 3:10043859-10043859	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2203C>T; p.R735W; 3:10065428-10065428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.916G>C; p.D306H; 3:10043077-10043077	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2989C>G; p.R997G; 3:10081112-10081112	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2442T>C; p.T814T; 3:10067265-10067265	bone; rib	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1924G>A; p.E642K; 3:10063888-10063888	skin	malignant_melanoma	Substitution - Missense
c.772T>G; p.F258V; 3:10041699-10041699	central_nervous_system; brain	glioma	Substitution - Missense
c.2068G>A; p.D690N; 3:10064775-10064775	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1282C>T; p.L428F; 3:10047920-10047920	skin	malignant_melanoma	Substitution - Missense
c.1188G>T; p.K396N; 3:10046633-10046633	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.157A>C; p.K53Q; 3:10032924-10032924	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1450G>A; p.G484R; 3:10049410-10049410	skin	malignant_melanoma	Substitution - Missense
c.2053G>A; p.G685R; 3:10064760-10064760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.4183C>T; p.Q1395*; 3:10096470-10096470	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3519G>C; p.E1173D; 3:10088501-10088501	breast	carcinoma	Substitution - Missense
c.4048G>A; p.D1350N; 3:10096335-10096335	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.943C>T; p.R315W; 3:10043104-10043104	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1998G>A; p.V666V; 3:10064406-10064406	skin	malignant_melanoma	Substitution - coding silent
c.2141C>T; p.P714L; 3:10064848-10064848	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2141C>T; p.P714L; 3:10064848-10064848	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1770T>G; p.S590R; 3:10062154-10062154	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2141C>T; p.P714L; 3:10064848-10064848	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2141C>T; p.P714L; 3:10064848-10064848	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2141C>T; p.P714L; 3:10064848-10064848	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2141C>T; p.P714L; 3:10064848-10064848	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2141C>T; p.P714L; 3:10064848-10064848	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2141C>T; p.P714L; 3:10064848-10064848	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2141C>T; p.P714L; 3:10064848-10064848	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3373A>G; p.I1125V; 3:10087171-10087171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1035C>T; p.L345L; 3:10043529-10043529	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1618G>C; p.A540P; 3:10052459-10052459	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3165C>T; p.Y1055Y; 3:10081405-10081405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2938C>G; p.L980V; 3:10078159-10078159	liver	carcinoma	Substitution - Missense
c.2938C>G; p.L980V; 3:10078159-10078159	liver	carcinoma	Substitution - Missense
c.3252G>A; p.Q1084Q; 3:10085839-10085839	breast	carcinoma	Substitution - coding silent
c.3738_3739insA; p.I1249fs*2; 3:10090346-10090347	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3760G>T; p.A1254S; 3:10090368-10090368	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2296G>T; p.E766*; 3:10065890-10065890	breast	carcinoma	Substitution - Nonsense
c.4080C>G; p.L1360L; 3:10096367-10096367	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.649G>A; p.E217K; 3:10039799-10039799	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2194C>T; p.P732S; 3:10065419-10065419	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.654C>T; p.I218I; 3:10039804-10039804	skin	malignant_melanoma	Substitution - coding silent
c.3895C>T; p.R1299C; 3:10094295-10094295	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3895C>T; p.R1299C; 3:10094295-10094295	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1366C>T; p.L456F; 3:10048004-10048004	skin	malignant_melanoma	Substitution - Missense
c.1589G>A; p.R530Q; 3:10052430-10052430	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2801C>G; p.S934C; 3:10074615-10074615	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1596C>G; p.L532L; 3:10052437-10052437	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1873C>T; p.P625S; 3:10063837-10063837	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1222C>T; p.R408*; 3:10046667-10046667	skin	malignant_melanoma	Substitution - Nonsense
c.1222C>T; p.R408*; 3:10046667-10046667	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4118C>A; p.A1373D; 3:10096405-10096405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4142G>C; p.R1381T; 3:10096429-10096429	breast	carcinoma	Substitution - Missense
c.3529A>G; p.I1177V; 3:10088511-10088511	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2642C>T; p.S881F; 3:10073289-10073289	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3367C>G; p.Q1123E; 3:10087165-10087165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3031G>A; p.E1011K; 3:10081154-10081154	skin; trunk	malignant_melanoma	Substitution - Missense
c.2035C>T; p.P679S; 3:10064742-10064742	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3215delT; p.F1073fs*26; 3:10081455-10081455	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1949A>G; p.E650G; 3:10064357-10064357	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1608C>T; p.L536L; 3:10052449-10052449	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.957C>T; p.S319S; 3:10043118-10043118	liver	carcinoma	Substitution - coding silent
c.3581A>G; p.E1194G; 3:10088848-10088848	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3624C>T; p.V1208V; 3:10088891-10088891	skin	malignant_melanoma	Substitution - coding silent
c.2067C>T; p.Y689Y; 3:10064774-10064774	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1275C>T; p.Y425Y; 3:10046720-10046720	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1275C>T; p.Y425Y; 3:10046720-10046720	thyroid	other; neoplasm	Substitution - coding silent
c.355C>T; p.R119C; 3:10034776-10034776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1275C>T; p.Y425Y; 3:10046720-10046720	thyroid	other; neoplasm	Substitution - coding silent
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1275C>T; p.Y425Y; 3:10046720-10046720	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1275C>T; p.Y425Y; 3:10046720-10046720	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1355C>T; p.S452L; 3:10047993-10047993	skin	malignant_melanoma	Substitution - Missense
c.2454C>T; p.H818H; 3:10067277-10067277	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1355C>T; p.S452L; 3:10047993-10047993	skin	malignant_melanoma	Substitution - Missense
c.1301C>T; p.S434F; 3:10047939-10047939	pancreas	carcinoma	Substitution - Missense
c.2606-1G>T; p.?; 3:10073252-10073252	stomach	carcinoma; adenocarcinoma	Unknown
c.1565A>G; p.D522G; 3:10052406-10052406	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2004C>T; p.S668S; 3:10064412-10064412	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2238C>A; p.N746K; 3:10065463-10065463	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4129C>T; p.L1377F; 3:10096416-10096416	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.879T>C; p.D293D; 3:10042654-10042654	stomach	adenocarcinoma	Substitution - coding silent
c.3369A>G; p.Q1123Q; 3:10087167-10087167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2769_2770insT; p.R926fs*6; 3:10074583-10074584	pancreas	carcinoma; acinar_carcinoma	Insertion - Frameshift
c.812C>T; p.S271L; 3:10042587-10042587	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3369A>G; p.Q1123Q; 3:10087167-10087167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.767C>T; p.P256L; 3:10041694-10041694	pancreas	carcinoma	Substitution - Missense
c.1137G>T; p.V379V; 3:10046582-10046582	thyroid	other; neoplasm	Substitution - coding silent
c.3376C>T; p.P1126S; 3:10087174-10087174	skin	malignant_melanoma	Substitution - Missense
c.1137G>T; p.V379V; 3:10046582-10046582	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1401G>A; p.T467T; 3:10048039-10048039	thyroid	other; neoplasm	Substitution - coding silent
c.1401G>A; p.T467T; 3:10048039-10048039	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3040C>A; p.H1014N; 3:10081163-10081163	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3223T>C; p.W1075R; 3:10081463-10081463	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.14G>C; p.R5T; 3:10028671-10028671	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1298C>T; p.S433L; 3:10047936-10047936	urinary_tract; bladder	carcinoma	Substitution - Missense
c.352G>A; p.E118K; 3:10034773-10034773	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.429C>T; p.D143D; 3:10035224-10035224	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2073T>C; p.T691T; 3:10064780-10064780	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3834C>T; p.L1278L; 3:10092237-10092237	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3786A>C; p.E1262D; 3:10092189-10092189	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4160G>C; p.G1387A; 3:10096447-10096447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3706C>T; p.R1236C; 3:10090314-10090314	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.1932G>A; p.L644L; 3:10063896-10063896	NS	NS	Substitution - coding silent
c.4023G>C; p.L1341L; 3:10095259-10095259	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3368A>G; p.Q1123R; 3:10087166-10087166	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3368A>G; p.Q1123R; 3:10087166-10087166	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.173T>C; p.I58T; 3:10032940-10032940	pancreas	carcinoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3436A>G; p.T1146A; 3:10087234-10087234	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4349G>A; p.W1450*; 3:10098883-10098883	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2884delC; p.P963fs*18; 3:10078105-10078105	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4098T>G; p.L1366L; 3:10096385-10096385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1263C>A; p.F421L; 3:10046708-10046708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1153C>T; p.L385F; 3:10046598-10046598	skin	malignant_melanoma	Substitution - Missense
c.4177G>T; p.D1393Y; 3:10096464-10096464	pancreas	carcinoma	Substitution - Missense
c.1674G>A; p.V558V; 3:10060311-10060311	skin	malignant_melanoma	Substitution - coding silent
c.4052C>T; p.T1351M; 3:10096339-10096339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2168+1G>T; p.?; 3:10064876-10064876	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.2168+1G>T; p.?; 3:10064876-10064876	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.2914C>T; p.L972F; 3:10078135-10078135	breast	carcinoma	Substitution - Missense
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.3031G>T; p.E1011*; 3:10081154-10081154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	lung	carcinoid-endocrine_tumour; typical	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1278+1delG; p.?; 3:10046724-10046724	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2096T>C; p.L699P; 3:10064803-10064803	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2942C>T; p.T981I; 3:10078163-10078163	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.4376A>G; p.Y1459C; 3:10098910-10098910	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4376A>G; p.Y1459C; 3:10098910-10098910	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2339C>T; p.S780L; 3:10065933-10065933	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2339C>T; p.S780L; 3:10065933-10065933	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2826G>A; p.T942T; 3:10074640-10074640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1278_1278+3delAGTA; p.?; 3:10046723-10046726	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.744C>A; p.V248V; 3:10041671-10041671	pancreas	carcinoma	Substitution - coding silent
c.1311G>A; p.S437S; 3:10047949-10047949	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3818G>A; p.R1273Q; 3:10092221-10092221	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3818G>A; p.R1273Q; 3:10092221-10092221	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1348A>G; p.I450V; 3:10047986-10047986	thyroid	other; neoplasm	Substitution - Missense
c.3818G>A; p.R1273Q; 3:10092221-10092221	large_intestine; colon	carcinoma	Substitution - Missense
c.3818G>A; p.R1273Q; 3:10092221-10092221	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2022-5C>T; p.?; 3:10064724-10064724	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.289G>A; p.V97I; 3:10034710-10034710	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2592G>T; p.K864N; 3:10072968-10072968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3367C>T; p.Q1123*; 3:10087165-10087165	skin	malignant_melanoma	Substitution - Nonsense
c.3367C>T; p.Q1123*; 3:10087165-10087165	skin	malignant_melanoma	Substitution - Nonsense
c.3828T>G; p.S1276R; 3:10092231-10092231	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.424A>T; p.I142F; 3:10035219-10035219	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1170C>T; p.S390S; 3:10046615-10046615	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1170C>T; p.S390S; 3:10046615-10046615	kidney	other; neoplasm	Substitution - coding silent
c.1799C>G; p.A600G; 3:10062183-10062183	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1288G>A; p.D430N; 3:10047926-10047926	skin	malignant_melanoma	Substitution - Missense
c.3494G>A; p.R1165Q; 3:10088476-10088476	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3446C>T; p.A1149V; 3:10087244-10087244	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2015C>T; p.P672L; 3:10064423-10064423	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4402C>T; p.P1468S; 3:10098936-10098936	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3400C>G; p.L1134V; 3:10087198-10087198	breast	carcinoma	Substitution - Missense
c.3990C>T; p.T1330T; 3:10095226-10095226	skin	malignant_melanoma	Substitution - coding silent

COSMIC somatic mutation [Top]