Entrez Gene

Basic Information
Gene ID	1278
Name	COL1A2
Synonymous	collagen, type I, alpha 2;COL1A2;collagen, type I, alpha 2
Definition	alpha 2(I)-collagen\|alpha-2 type I collagen\|collagen I, alpha-2 polypeptide\|collagen alpha-2(I) chain\|collagen of skin, tendon and bone, alpha-2 chain\|type I procollagen
Position	7q22.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2066C>T; p.A689V; 7:94419538-94419538	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2592G>A; p.Q864Q; 7:94424362-94424362	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2869G>A; p.V957I; 7:94425783-94425783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2517C>T; p.P839P; 7:94423070-94423070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2066C>T; p.A689V; 7:94419538-94419538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1002T>C; p.G334G; 7:94409788-94409788	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2120C>G; p.P707R; 7:94420273-94420273	skin	malignant_melanoma	Substitution - Missense
c.3859delA; p.K1288fs*27; 7:94429335-94429335	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2279G>A; p.G760E; 7:94420632-94420632	skin	malignant_melanoma	Substitution - Missense
c.2266A>G; p.T756A; 7:94420619-94420619	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3346T>C; p.F1116L; 7:94427705-94427705	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2266A>G; p.T756A; 7:94420619-94420619	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2266A>G; p.T756A; 7:94420619-94420619	breast	carcinoma	Substitution - Missense
c.3859delA; p.K1288fs*27; 7:94429335-94429335	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4013G>A; p.R1338H; 7:94430305-94430305	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2266A>G; p.T756A; 7:94420619-94420619	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3453T>C; p.T1151T; 7:94427812-94427812	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2507C>T; p.A836V; 7:94423060-94423060	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3988G>C; p.E1330Q; 7:94430280-94430280	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3657C>A; p.S1219R; 7:94428423-94428423	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>A; p.G190R; 7:94406277-94406277	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.161G>A; p.G54D; 7:94400224-94400224	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1419C>G; p.I473M; 7:94412598-94412598	breast	carcinoma	Substitution - Missense
c.199_200CC>TT; p.P67F; 7:94400262-94400263	skin	malignant_melanoma	Substitution - Missense
c.1385C>T; p.A462V; 7:94412102-94412102	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.395G>A; p.R132H; 7:94404855-94404855	bone	chondrosarcoma	Substitution - Missense
c.2527G>A; p.A843T; 7:94423080-94423080	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.199_200CC>TT; p.P67F; 7:94400262-94400263	skin	malignant_melanoma	Substitution - Missense
c.2426C>T; p.P809L; 7:94422979-94422979	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2225G>T; p.G742V; 7:94420578-94420578	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2426C>T; p.P809L; 7:94422979-94422979	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3935T>C; p.V1312A; 7:94429411-94429411	skin	malignant_melanoma	Substitution - Missense
c.1246G>A; p.V416I; 7:94410937-94410937	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>A; p.G271S; 7:94409340-94409340	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3598G>A; p.G1200S; 7:94428364-94428364	skin; extremity	malignant_melanoma	Substitution - Missense
c.1170C>T; p.A390A; 7:94410500-94410500	oesophagus	carcinoma	Substitution - coding silent
c.1246G>A; p.V416I; 7:94410937-94410937	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1246G>A; p.V416I; 7:94410937-94410937	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1904C>T; p.P635L; 7:94417764-94417764	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3386G>T; p.R1129I; 7:94427745-94427745	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.179G>T; p.G60V; 7:94400242-94400242	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2625C>T; p.L875L; 7:94424395-94424395	skin	malignant_melanoma	Substitution - coding silent
c.2035G>A; p.G679S; 7:94419507-94419507	skin	malignant_melanoma	Substitution - Missense
c.22C>A; p.R8R; 7:94395053-94395053	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3940G>C; p.V1314L; 7:94429416-94429416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1963G>A; p.G655R; 7:94417823-94417823	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2625C>T; p.L875L; 7:94424395-94424395	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2925T>A; p.H975Q; 7:94425839-94425839	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4075G>T; p.D1359Y; 7:94430367-94430367	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4075G>T; p.D1359Y; 7:94430367-94430367	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3634C>T; p.P1212S; 7:94428400-94428400	central_nervous_system; brain	glioma	Substitution - Missense
c.298G>T; p.G100C; 7:94404574-94404574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2826C>T; p.P942P; 7:94425654-94425654	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3264T>A; p.P1088P; 7:94427292-94427292	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.847G>A; p.G283S; 7:94409376-94409376	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2317C>T; p.P773S; 7:94421030-94421030	skin	malignant_melanoma	Substitution - Missense
c.904G>T; p.A302S; 7:94409576-94409576	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1109G>T; p.G370V; 7:94410439-94410439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2364C>T; p.F788F; 7:94421913-94421913	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1482C>T; p.F494F; 7:94412661-94412661	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2083G>A; p.E695K; 7:94420236-94420236	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2081G>A; p.G694D; 7:94420234-94420234	skin	malignant_melanoma	Substitution - Missense
c.540+7A>G; p.?; 7:94405733-94405733	liver	carcinoma	Unknown
c.3146C>T; p.P1049L; 7:94427048-94427048	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1565C>T; p.P522L; 7:94413697-94413697	breast	carcinoma	Substitution - Missense
c.1565C>T; p.P522L; 7:94413697-94413697	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.778G>A; p.A260T; 7:94408809-94408809	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2083G>A; p.E695K; 7:94420236-94420236	skin	malignant_melanoma	Substitution - Missense
c.2083G>A; p.E695K; 7:94420236-94420236	skin	malignant_melanoma	Substitution - Missense
c.2570C>T; p.P857L; 7:94424340-94424340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2169T>A; p.N723K; 7:94420426-94420426	skin	malignant_melanoma	Substitution - Missense
c.3332G>T; p.G1111V; 7:94427691-94427691	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4019C>T; p.P1340L; 7:94430311-94430311	skin	malignant_melanoma	Substitution - Missense
c.1813C>T; p.P605S; 7:94416453-94416453	skin	malignant_melanoma	Substitution - Missense
c.132G>A; p.R44R; 7:94399084-94399084	skin	malignant_melanoma	Substitution - coding silent
c.2122C>T; p.R708W; 7:94420275-94420275	skin	malignant_melanoma	Substitution - Missense
c.2408T>G; p.I803S; 7:94422961-94422961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1573G>A; p.D525N; 7:94413705-94413705	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2800G>T; p.G934C; 7:94425628-94425628	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3270delC; p.P1092fs*12; 7:94427629-94427629	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.3270delC; p.P1092fs*12; 7:94427629-94427629	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2704C>T; p.P902S; 7:94425147-94425147	skin	malignant_melanoma	Substitution - Missense
c.3037G>A; p.E1013K; 7:94426462-94426462	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3037G>A; p.E1013K; 7:94426462-94426462	skin	malignant_melanoma	Substitution - Missense
c.1688C>T; p.P563L; 7:94414244-94414244	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1067A>T; p.E356V; 7:94410273-94410273	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2992C>G; p.P998A; 7:94426046-94426046	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3897A>C; p.E1299D; 7:94429373-94429373	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1404C>T; p.V468V; 7:94412121-94412121	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1404C>T; p.V468V; 7:94412121-94412121	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.398G>T; p.G133V; 7:94404858-94404858	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.197G>C; p.G66A; 7:94400260-94400260	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.860T>A; p.L287H; 7:94409389-94409389	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3719A>G; p.Y1240C; 7:94429195-94429195	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.215G>A; p.G72D; 7:94400278-94400278	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2250C>T; p.N750N; 7:94420603-94420603	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2250C>T; p.N750N; 7:94420603-94420603	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4047C>T; p.I1349I; 7:94430339-94430339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1720-1G>A; p.?; 7:94415225-94415225	urinary_tract; bladder	carcinoma	Unknown
c.400C>T; p.P134S; 7:94404860-94404860	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2744C>G; p.P915R; 7:94425187-94425187	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2319T>C; p.P773P; 7:94421032-94421032	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.179G>A; p.G60D; 7:94400242-94400242	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1132G>T; p.E378*; 7:94410462-94410462	ovary	other; neoplasm	Substitution - Nonsense
c.1132G>T; p.E378*; 7:94410462-94410462	ovary	other; neoplasm	Substitution - Nonsense
c.891+1G>T; p.?; 7:94409421-94409421	lung	carcinoma; adenocarcinoma	Unknown
c.3455C>A; p.P1152H; 7:94427814-94427814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1132G>T; p.E378*; 7:94410462-94410462	ovary	other; neoplasm	Substitution - Nonsense
c.688C>T; p.P230S; 7:94408231-94408231	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3832T>C; p.Y1278H; 7:94429308-94429308	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.688C>T; p.P230S; 7:94408231-94408231	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2271C>T; p.G757G; 7:94420624-94420624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3241G>T; p.G1081C; 7:94427269-94427269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.595-1G>A; p.?; 7:94407846-94407846	prostate	carcinoma; adenocarcinoma	Unknown
c.409_410CC>AA; p.P137N; 7:94404869-94404870	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2151C>T; p.V717V; 7:94420408-94420408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3726_3728delAGA; p.E1243delE; 7:94429202-94429204	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.988C>A; p.P330T; 7:94409774-94409774	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.407G>A; p.G136D; 7:94404867-94404867	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.325G>T; p.G109C; 7:94404693-94404693	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2560A>G; p.T854A; 7:94423113-94423113	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.902G>A; p.G301E; 7:94409574-94409574	skin	malignant_melanoma	Substitution - Missense
c.1601C>A; p.P534H; 7:94413733-94413733	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1939G>T; p.A647S; 7:94417799-94417799	prostate	adenoma	Substitution - Missense
c.2299C>A; p.P767T; 7:94421012-94421012	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4030A>T; p.I1344F; 7:94430322-94430322	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3744G>T; p.K1248N; 7:94429220-94429220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.873C>T; p.S291S; 7:94409402-94409402	oesophagus	carcinoma	Substitution - coding silent
c.3202A>G; p.T1068A; 7:94427230-94427230	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2078G>A; p.R693Q; 7:94419550-94419550	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2078G>A; p.R693Q; 7:94419550-94419550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.246T>C; p.D82D; 7:94401587-94401587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1577G>A; p.G526E; 7:94413709-94413709	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246T>C; p.D82D; 7:94401587-94401587	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2378G>T; p.G793V; 7:94421927-94421927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.548A>C; p.N183T; 7:94406257-94406257	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.404C>T; p.A135V; 7:94404864-94404864	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.200C>T; p.P67L; 7:94400263-94400263	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2465G>A; p.R822H; 7:94423018-94423018	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3368G>T; p.R1123L; 7:94427727-94427727	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2313C>T; p.P771P; 7:94421026-94421026	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3238C>T; p.R1080*; 7:94427266-94427266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1619A>T; p.Q540L; 7:94413901-94413901	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3238C>T; p.R1080*; 7:94427266-94427266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1326G>A; p.G442G; 7:94411130-94411130	oesophagus	carcinoma	Substitution - coding silent
c.2060C>A; p.A687D; 7:94419532-94419532	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2809G>A; p.G937S; 7:94425637-94425637	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2962G>C; p.G988R; 7:94426016-94426016	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1662C>T; p.F554F; 7:94413944-94413944	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1723C>A; p.L575I; 7:94415229-94415229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2828G>T; p.G943V; 7:94425656-94425656	breast	carcinoma	Substitution - Missense
c.3208C>A; p.H1070N; 7:94427236-94427236	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1153G>A; p.G385R; 7:94410483-94410483	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3277G>T; p.G1093C; 7:94427636-94427636	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2125G>A; p.G709R; 7:94420278-94420278	skin	malignant_melanoma	Substitution - Missense
c.290G>A; p.G97E; 7:94404566-94404566	skin	malignant_melanoma	Substitution - Missense
c.397G>A; p.G133S; 7:94404857-94404857	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1686T>C; p.G562G; 7:94414242-94414242	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3666C>G; p.D1222E; 7:94428432-94428432	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.82G>A; p.E28K; 7:94398382-94398382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1442G>C; p.G481A; 7:94412621-94412621	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.81G>C; p.E27D; 7:94397758-94397758	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.2183C>T; p.P728L; 7:94420440-94420440	NS	malignant_melanoma	Substitution - Missense
c.2404G>A; p.G802S; 7:94422957-94422957	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2452C>A; p.L818I; 7:94423005-94423005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2341G>C; p.G781R; 7:94421054-94421054	skin	malignant_melanoma	Substitution - Missense
c.3921G>A; p.R1307R; 7:94429397-94429397	thyroid	carcinoma	Substitution - coding silent
c.738+6delT; p.?; 7:94408386-94408386	liver	carcinoma	Unknown
c.220G>T; p.G74C; 7:94400283-94400283	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.833C>T; p.P278L; 7:94409362-94409362	skin	malignant_melanoma	Substitution - Missense
c.831T>C; p.G277G; 7:94409360-94409360	skin	malignant_melanoma	Substitution - coding silent
c.2698G>T; p.A900S; 7:94425141-94425141	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.132+1G>T; p.?; 7:94399085-94399085	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.3614G>A; p.R1205Q; 7:94428380-94428380	pancreas	carcinoma	Substitution - Missense
c.2299C>T; p.P767S; 7:94421012-94421012	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.763C>G; p.P255A; 7:94408794-94408794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1226G>T; p.G409V; 7:94410917-94410917	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2814C>T; p.R938R; 7:94425642-94425642	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2706T>C; p.P902P; 7:94425149-94425149	skin	malignant_melanoma	Substitution - coding silent
c.2814C>T; p.R938R; 7:94425642-94425642	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2814C>T; p.R938R; 7:94425642-94425642	pancreas	carcinoma	Substitution - coding silent
c.443G>A; p.G148E; 7:94405209-94405209	skin	malignant_melanoma	Substitution - Missense
c.2363T>G; p.F788C; 7:94421912-94421912	skin	malignant_melanoma	Substitution - Missense
c.119C>G; p.P40R; 7:94399071-94399071	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.835G>A; p.A279T; 7:94409364-94409364	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3822C>A; p.N1274K; 7:94429298-94429298	prostate	carcinoma	Substitution - Missense
c.1377C>A; p.I459I; 7:94412094-94412094	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3105+6T>C; p.?; 7:94426536-94426536	liver	carcinoma	Unknown
c.3171T>C; p.G1057G; 7:94427199-94427199	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3118G>A; p.D1040N; 7:94427020-94427020	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.411T>A; p.P137P; 7:94404871-94404871	breast	carcinoma	Substitution - coding silent
c.2809G>T; p.G937C; 7:94425637-94425637	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.647G>A; p.R216H; 7:94408190-94408190	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2539G>A; p.G847S; 7:94423092-94423092	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3248A>G; p.Q1083R; 7:94427276-94427276	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1056C>G; p.G352G; 7:94410262-94410262	liver	carcinoma	Substitution - coding silent
c.2539G>A; p.G847S; 7:94423092-94423092	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1819G>A; p.G607R; 7:94416459-94416459	skin; neck	malignant_melanoma	Substitution - Missense
c.713G>A; p.G238E; 7:94408355-94408355	skin	malignant_melanoma	Substitution - Missense
c.1056C>G; p.G352G; 7:94410262-94410262	liver	carcinoma	Substitution - coding silent
c.3686G>A; p.G1229E; 7:94428452-94428452	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2796C>T; p.N932N; 7:94425624-94425624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1446A>C; p.P482P; 7:94412625-94412625	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3686G>A; p.G1229E; 7:94428452-94428452	skin; arm	malignant_melanoma	Substitution - Missense
c.3244C>T; p.P1082S; 7:94427272-94427272	skin	malignant_melanoma	Substitution - Missense
c.1771C>T; p.R591C; 7:94416411-94416411	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2077C>A; p.R693R; 7:94419549-94419549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3244C>T; p.P1082S; 7:94427272-94427272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2380C>T; p.R794W; 7:94421929-94421929	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1568G>A; p.G523D; 7:94413700-94413700	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>A; p.G181E; 7:94406251-94406251	skin	malignant_melanoma	Substitution - Missense
c.542G>A; p.G181E; 7:94406251-94406251	skin	malignant_melanoma	Substitution - Missense
c.1419C>T; p.I473I; 7:94412598-94412598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2746G>T; p.G916*; 7:94425189-94425189	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1419C>T; p.I473I; 7:94412598-94412598	skin	malignant_melanoma	Substitution - coding silent
c.2380C>T; p.R794W; 7:94421929-94421929	pancreas	carcinoma	Substitution - Missense
c.528C>T; p.F176F; 7:94405714-94405714	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2903C>A; p.P968H; 7:94425817-94425817	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.744C>T; p.P248P; 7:94408775-94408775	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.907A>T; p.N303Y; 7:94409579-94409579	central_nervous_system; brain	glioma	Substitution - Missense
c.701G>A; p.R234H; 7:94408343-94408343	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3642G>A; p.K1214K; 7:94428408-94428408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1567G>A; p.G523S; 7:94413699-94413699	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2784C>T; p.G928G; 7:94425612-94425612	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1930G>T; p.E644*; 7:94417790-94417790	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1810G>T; p.G604C; 7:94416450-94416450	oesophagus	carcinoma	Substitution - Missense
c.3568G>A; p.A1190T; 7:94428334-94428334	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1773C>T; p.R591R; 7:94416413-94416413	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1773C>T; p.R591R; 7:94416413-94416413	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1568G>T; p.G523V; 7:94413700-94413700	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1568G>T; p.G523V; 7:94413700-94413700	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2394A>G; p.P798P; 7:94421943-94421943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1384G>A; p.A462T; 7:94412101-94412101	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2806C>T; p.P936S; 7:94425634-94425634	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.331C>G; p.Q111E; 7:94404699-94404699	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2255T>A; p.V752D; 7:94420608-94420608	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.4087G>A; p.V1363I; 7:94430379-94430379	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2543C>T; p.P848L; 7:94423096-94423096	skin	malignant_melanoma	Substitution - Missense
c.1283C>T; p.P428L; 7:94411087-94411087	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1766G>A; p.G589E; 7:94416406-94416406	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2255T>A; p.V752D; 7:94420608-94420608	breast	carcinoma	Substitution - Missense
c.2422G>A; p.G808S; 7:94422975-94422975	skin	malignant_melanoma	Substitution - Missense
c.2255T>A; p.V752D; 7:94420608-94420608	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.3404T>A; p.V1135D; 7:94427763-94427763	oesophagus	carcinoma	Substitution - Missense
c.3818A>G; p.K1273R; 7:94429294-94429294	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2606C>T; p.A869V; 7:94424376-94424376	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1749T>A; p.G583G; 7:94415255-94415255	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.293C>T; p.P98L; 7:94404569-94404569	central_nervous_system; brain	glioma	Substitution - Missense
c.1538C>T; p.A513V; 7:94413117-94413117	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.133-2A>T; p.?; 7:94400194-94400194	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1945G>A; p.G649S; 7:94417805-94417805	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.725C>T; p.P242L; 7:94408367-94408367	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.54C>T; p.C18C; 7:94395085-94395085	skin	malignant_melanoma	Substitution - coding silent
c.2782-1G>A; p.?; 7:94425609-94425609	skin	malignant_melanoma	Unknown
c.2988A>T; p.R996S; 7:94426042-94426042	thyroid	carcinoma	Substitution - Missense
c.3102C>T; p.I1034I; 7:94426527-94426527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3102C>T; p.I1034I; 7:94426527-94426527	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.979C>T; p.R327C; 7:94409765-94409765	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3496T>G; p.L1166V; 7:94427855-94427855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2905G>A; p.V969M; 7:94425819-94425819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2905G>A; p.V969M; 7:94425819-94425819	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2440G>A; p.G814R; 7:94422993-94422993	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2486G>T; p.G829V; 7:94423039-94423039	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3600C>A; p.G1200G; 7:94428366-94428366	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3268-4G>T; p.?; 7:94427623-94427623	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.3600C>A; p.G1200G; 7:94428366-94428366	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.253_254GG>AA; p.G85K; 7:94401594-94401595	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3157A>G; p.R1053G; 7:94427059-94427059	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3281C>T; p.P1094L; 7:94427640-94427640	skin; trunk	malignant_melanoma	Substitution - Missense
c.82-1G>A; p.?; 7:94398381-94398381	liver	carcinoma	Unknown
c.859C>T; p.L287F; 7:94409388-94409388	bone; humerus	chondrosarcoma	Substitution - Missense
c.2214A>G; p.K738K; 7:94420567-94420567	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2324G>A; p.G775E; 7:94421037-94421037	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3355G>A; p.A1119T; 7:94427714-94427714	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2324G>A; p.G775E; 7:94421037-94421037	skin	malignant_melanoma	Substitution - Missense
c.82-1G>A; p.?; 7:94398381-94398381	liver	carcinoma	Unknown
c.3530A>G; p.Y1177C; 7:94428296-94428296	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2932C>T; p.R978C; 7:94425846-94425846	skin	malignant_melanoma	Substitution - Missense
c.3019G>A; p.D1007N; 7:94426444-94426444	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1759_1760CC>TT; p.P587L; 7:94415265-94415266	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.961C>T; p.P321S; 7:94409747-94409747	liver	carcinoma	Substitution - Missense
c.517C>T; p.L173F; 7:94405703-94405703	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.448C>T; p.P150S; 7:94405214-94405214	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2948C>T; p.P983L; 7:94426002-94426002	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1009G>A; p.G337S; 7:94409795-94409795	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2124G>A; p.R708R; 7:94420277-94420277	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2290C>T; p.P764S; 7:94420643-94420643	skin	malignant_melanoma	Substitution - Missense
c.1009G>A; p.G337S; 7:94409795-94409795	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.2546C>G; p.S849C; 7:94423099-94423099	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1248C>T; p.V416V; 7:94410939-94410939	skin	malignant_melanoma	Substitution - coding silent
c.1786G>A; p.E596K; 7:94416426-94416426	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3601G>A; p.E1201K; 7:94428367-94428367	skin	malignant_melanoma	Substitution - Missense
c.1012G>C; p.A338P; 7:94409798-94409798	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3974G>A; p.G1325E; 7:94430266-94430266	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.157G>T; p.D53Y; 7:94400220-94400220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.232G>T; p.A78S; 7:94401573-94401573	breast	carcinoma	Substitution - Missense
c.1689C>T; p.P563P; 7:94414245-94414245	central_nervous_system; brain	glioma	Substitution - coding silent
c.145C>T; p.P49S; 7:94400208-94400208	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2673+1G>A; p.?; 7:94424444-94424444	breast	carcinoma	Unknown
c.1245C>T; p.G415G; 7:94410936-94410936	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3050G>A; p.R1017K; 7:94426475-94426475	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3724G>A; p.V1242I; 7:94429200-94429200	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2069C>T; p.T690I; 7:94419541-94419541	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.937-5C>A; p.?; 7:94409718-94409718	pancreas	carcinoma	Unknown
c.1186C>T; p.P396S; 7:94410516-94410516	NS	malignant_melanoma	Substitution - Missense
c.2623C>A; p.L875I; 7:94424393-94424393	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2341G>T; p.G781C; 7:94421054-94421054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2813G>A; p.R938H; 7:94425641-94425641	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2813G>A; p.R938H; 7:94425641-94425641	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1495G>A; p.G499S; 7:94412674-94412674	skin	malignant_melanoma	Substitution - Missense
c.2813G>A; p.R938H; 7:94425641-94425641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2705C>A; p.P902H; 7:94425148-94425148	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3951C>T; p.C1317C; 7:94429427-94429427	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1709C>T; p.P570L; 7:94414265-94414265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3967G>T; p.E1323*; 7:94430259-94430259	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2025+1G>A; p.?; 7:94418553-94418553	urinary_tract; bladder	carcinoma	Unknown
c.3846G>T; p.E1282D; 7:94429322-94429322	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.670C>G; p.R224G; 7:94408213-94408213	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1388G>A; p.G463E; 7:94412105-94412105	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2588C>T; p.P863L; 7:94424358-94424358	skin	malignant_melanoma	Substitution - Missense
c.3193G>T; p.D1065Y; 7:94427221-94427221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1931A>G; p.E644G; 7:94417791-94417791	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.301C>T; p.P101S; 7:94404577-94404577	skin	malignant_melanoma	Substitution - Missense
c.173C>A; p.P58H; 7:94400236-94400236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1615G>A; p.V539I; 7:94413897-94413897	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.1910G>A; p.G637D; 7:94417770-94417770	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.534C>A; p.G178G; 7:94405720-94405720	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2005C>A; p.P669T; 7:94418532-94418532	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.760C>T; p.P254S; 7:94408791-94408791	skin	malignant_melanoma	Substitution - Missense
c.2634G>A; p.S878S; 7:94424404-94424404	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2159C>G; p.A720G; 7:94420416-94420416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2275G>T; p.V759F; 7:94420628-94420628	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.523G>A; p.G175S; 7:94405709-94405709	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1211C>A; p.S404Y; 7:94410902-94410902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2026G>T; p.G676C; 7:94419498-94419498	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2026G>T; p.G676C; 7:94419498-94419498	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3273C>A; p.P1091P; 7:94427632-94427632	breast	carcinoma	Substitution - coding silent
c.3907G>A; p.E1303K; 7:94429383-94429383	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2091G>T; p.G697G; 7:94420244-94420244	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3153T>C; p.G1051G; 7:94427055-94427055	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2446G>A; p.E816K; 7:94422999-94422999	skin	malignant_melanoma	Substitution - Missense
c.497G>A; p.G166D; 7:94405683-94405683	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.2436T>C; p.P812P; 7:94422989-94422989	liver	carcinoma	Substitution - coding silent
c.430G>A; p.D144N; 7:94404890-94404890	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2587C>T; p.P863S; 7:94424357-94424357	breast	carcinoma	Substitution - Missense
c.3955-1G>T; p.?; 7:94430246-94430246	lung	carcinoma; adenocarcinoma	Unknown
c.823C>A; p.P275T; 7:94409352-94409352	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1160C>G; p.A387G; 7:94410490-94410490	skin	malignant_melanoma	Substitution - Missense
c.3955-1G>T; p.?; 7:94430246-94430246	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.623G>A; p.G208E; 7:94407875-94407875	skin	malignant_melanoma	Substitution - Missense
c.2743C>T; p.P915S; 7:94425186-94425186	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.700C>T; p.R234C; 7:94408342-94408342	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.671G>A; p.R224H; 7:94408214-94408214	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2938G>A; p.E980K; 7:94425852-94425852	skin	malignant_melanoma	Substitution - Missense
c.3336C>T; p.Y1112Y; 7:94427695-94427695	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1751C>T; p.P584L; 7:94415257-94415257	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2821C>T; p.Q941*; 7:94425649-94425649	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.993C>T; p.G331G; 7:94409779-94409779	skin	malignant_melanoma	Substitution - coding silent
c.3829G>A; p.A1277T; 7:94429305-94429305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2378G>A; p.G793E; 7:94421927-94421927	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.379-2A>C; p.?; 7:94404837-94404837	lung	carcinoma; small_cell_carcinoma	Unknown
c.3271C>T; p.P1091S; 7:94427630-94427630	skin	malignant_melanoma	Substitution - Missense
c.3384C>A; p.L1128L; 7:94427743-94427743	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1367C>T; p.P456L; 7:94412084-94412084	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3772C>T; p.R1258C; 7:94429248-94429248	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3466A>G; p.R1156G; 7:94427825-94427825	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2476G>T; p.G826C; 7:94423029-94423029	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1034T>C; p.V345A; 7:94409820-94409820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3881G>C; p.G1294A; 7:94429357-94429357	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1711G>T; p.G571*; 7:94414267-94414267	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2121T>A; p.P707P; 7:94420274-94420274	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.20C>T; p.T7M; 7:94395051-94395051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.966C>T; p.G322G; 7:94409752-94409752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3326A>G; p.D1109G; 7:94427685-94427685	central_nervous_system; brain	glioma	Substitution - Missense
c.2234G>A; p.G745E; 7:94420587-94420587	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1252-2A>T; p.?; 7:94411054-94411054	lung	carcinoma; adenocarcinoma	Unknown
c.2782-1G>T; p.?; 7:94425609-94425609	lung	carcinoma; adenocarcinoma	Unknown
c.1213C>T; p.R405C; 7:94410904-94410904	breast	carcinoma	Substitution - Missense
c.2845G>C; p.G949R; 7:94425759-94425759	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2776C>A; p.R926S; 7:94425219-94425219	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1213C>T; p.R405C; 7:94410904-94410904	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3013C>T; p.R1005C; 7:94426438-94426438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1213C>T; p.R405C; 7:94410904-94410904	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.81+2T>C; p.?; 7:94397760-94397760	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1404+1G>A; p.?; 7:94412122-94412122	breast	carcinoma	Unknown
c.1546G>T; p.A516S; 7:94413125-94413125	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.790A>G; p.K264E; 7:94408821-94408821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2526C>T; p.F842F; 7:94423079-94423079	liver	carcinoma	Substitution - coding silent
c.3312C>T; p.S1104S; 7:94427671-94427671	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2056C>A; p.P686T; 7:94419528-94419528	liver	carcinoma	Substitution - Missense
c.2526C>T; p.F842F; 7:94423079-94423079	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.981C>T; p.R327R; 7:94409767-94409767	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3288C>T; p.G1096G; 7:94427647-94427647	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3288C>T; p.G1096G; 7:94427647-94427647	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.689C>T; p.P230L; 7:94408232-94408232	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3392A>C; p.K1131T; 7:94427751-94427751	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2503G>A; p.G835S; 7:94423056-94423056	breast	carcinoma	Substitution - Missense
c.2487C>T; p.G829G; 7:94423040-94423040	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.196G>T; p.G66C; 7:94400259-94400259	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.934G>A; p.A312T; 7:94409606-94409606	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.512C>T; p.P171L; 7:94405698-94405698	skin	malignant_melanoma	Substitution - Missense
c.2188G>T; p.G730C; 7:94420541-94420541	liver	carcinoma	Substitution - Missense
c.2726C>T; p.P909L; 7:94425169-94425169	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2188G>T; p.G730C; 7:94420541-94420541	liver	carcinoma	Substitution - Missense
c.2792G>T; p.G931V; 7:94425620-94425620	ovary	other; neoplasm	Substitution - Missense
c.1267C>T; p.R423C; 7:94411071-94411071	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4044C>T; p.D1348D; 7:94430336-94430336	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1267C>T; p.R423C; 7:94411071-94411071	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.924C>T; p.A308A; 7:94409596-94409596	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.568_569GG>AA; p.G190K; 7:94406277-94406278	skin	malignant_melanoma	Substitution - Missense
c.2636G>A; p.R879K; 7:94424406-94424406	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1089+1G>A; p.?; 7:94410296-94410296	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3675C>T; p.H1225H; 7:94428441-94428441	breast	carcinoma	Substitution - coding silent
c.455G>A; p.R152Q; 7:94405221-94405221	skin	malignant_melanoma	Substitution - Missense
c.1971G>T; p.K657N; 7:94417831-94417831	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2933G>A; p.R978H; 7:94425847-94425847	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1265G>C; p.S422T; 7:94411069-94411069	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.455G>A; p.R152Q; 7:94405221-94405221	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2933G>A; p.R978H; 7:94425847-94425847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3323A>G; p.Y1108C; 7:94427682-94427682	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3031C>T; p.P1011S; 7:94426456-94426456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2686C>T; p.P896S; 7:94425129-94425129	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3007G>A; p.G1003S; 7:94426432-94426432	skin	malignant_melanoma	Substitution - Missense
c.1767G>A; p.G589G; 7:94416407-94416407	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3402A>C; p.E1134D; 7:94427761-94427761	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2659G>T; p.V887F; 7:94424429-94424429	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2251G>A; p.G751S; 7:94420604-94420604	NS	malignant_melanoma	Substitution - Missense
c.2102C>T; p.P701L; 7:94420255-94420255	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.355G>A; p.E119K; 7:94404723-94404723	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2776C>T; p.R926C; 7:94425219-94425219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3127G>C; p.A1043P; 7:94427029-94427029	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1090-1G>A; p.?; 7:94410419-94410419	ovary	other; neoplasm	Unknown
c.2947C>A; p.P983T; 7:94426001-94426001	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.763C>T; p.P255S; 7:94408794-94408794	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2382G>T; p.R794R; 7:94421931-94421931	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2524T>G; p.F842V; 7:94423077-94423077	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1562C>T; p.A521V; 7:94413694-94413694	breast	carcinoma	Substitution - Missense
c.259G>A; p.G87R; 7:94401600-94401600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3160-2A>C; p.?; 7:94427186-94427186	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.2582C>T; p.P861L; 7:94424352-94424352	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.831_832insC; p.A279fs*6; 7:94409360-94409361	skin	malignant_melanoma	Insertion - Frameshift
c.919G>A; p.G307S; 7:94409591-94409591	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3001C>T; p.P1001S; 7:94426426-94426426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1645C>G; p.P549A; 7:94413927-94413927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2021C>A; p.A674D; 7:94418548-94418548	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1377C>T; p.I459I; 7:94412094-94412094	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1988G>C; p.R663T; 7:94418515-94418515	breast	carcinoma	Substitution - Missense
c.1377C>T; p.I459I; 7:94412094-94412094	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2464C>T; p.R822C; 7:94423017-94423017	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2679A>G; p.E893E; 7:94425122-94425122	skin	malignant_melanoma	Substitution - coding silent
c.2464C>T; p.R822C; 7:94423017-94423017	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.432+1_432+4delGTAA; p.?; 7:94404893-94404896	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1256C>A; p.P419H; 7:94411060-94411060	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3139G>A; p.V1047M; 7:94427041-94427041	pancreas	carcinoma	Substitution - Missense
c.2987G>A; p.R996K; 7:94426041-94426041	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2841G>C; p.E947D; 7:94425755-94425755	breast	carcinoma	Substitution - Missense
c.3407A>G; p.D1136G; 7:94427766-94427766	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3135C>T; p.G1045G; 7:94427037-94427037	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2396G>A; p.G799E; 7:94421945-94421945	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2521G>A; p.G841S; 7:94423074-94423074	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2069C>A; p.T690K; 7:94419541-94419541	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2381G>A; p.R794Q; 7:94421930-94421930	skin	malignant_melanoma	Substitution - Missense
c.1507G>A; p.D503N; 7:94413086-94413086	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2575G>A; p.G859S; 7:94424345-94424345	skin	malignant_melanoma	Substitution - Missense
c.2353A>G; p.M785V; 7:94421902-94421902	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2123G>T; p.R708L; 7:94420276-94420276	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.983G>T; p.G328V; 7:94409769-94409769	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.273A>C; p.G91G; 7:94401614-94401614	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.880G>A; p.V294I; 7:94409409-94409409	central_nervous_system; brain	glioma	Substitution - Missense
c.274C>A; p.P92T; 7:94401615-94401615	liver	carcinoma	Substitution - Missense
c.2241G>T; p.K747N; 7:94420594-94420594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.982G>A; p.G328S; 7:94409768-94409768	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4023C>T; p.F1341F; 7:94430315-94430315	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1200T>C; p.G400G; 7:94410891-94410891	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2770G>T; p.A924S; 7:94425213-94425213	liver	carcinoma	Substitution - Missense
c.817G>A; p.A273T; 7:94409346-94409346	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3269G>A; p.G1090D; 7:94427628-94427628	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1642C>T; p.P548S; 7:94413924-94413924	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.611C>T; p.P204L; 7:94407863-94407863	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.506G>A; p.G169E; 7:94405692-94405692	skin	malignant_melanoma	Substitution - Missense
c.3331G>T; p.G1111C; 7:94427690-94427690	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1964G>A; p.G655E; 7:94417824-94417824	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1423G>A; p.G475S; 7:94412602-94412602	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3715G>T; p.E1239*; 7:94429191-94429191	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2845G>A; p.G949S; 7:94425759-94425759	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1179A>G; p.P393P; 7:94410509-94410509	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1986C>G; p.L662L; 7:94418513-94418513	breast	carcinoma	Substitution - coding silent
c.1544T>A; p.L515H; 7:94413123-94413123	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1968A>G; p.E656E; 7:94417828-94417828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.106G>A; p.G36R; 7:94399058-94399058	prostate	adenoma	Substitution - Missense
c.1622G>T; p.G541V; 7:94413904-94413904	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1048C>A; p.P350T; 7:94410254-94410254	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3905C>T; p.A1302V; 7:94429381-94429381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2489G>A; p.R830Q; 7:94423042-94423042	skin	malignant_melanoma	Substitution - Missense
c.2489G>A; p.R830Q; 7:94423042-94423042	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.789C>T; p.P263P; 7:94408820-94408820	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3160-1_3160GG>AA; p.?; 7:94427187-94427188	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.4024C>T; p.L1342F; 7:94430316-94430316	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1268G>A; p.R423H; 7:94411072-94411072	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1553C>A; p.A518D; 7:94413132-94413132	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2248A>C; p.N750H; 7:94420601-94420601	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1393G>A; p.E465K; 7:94412110-94412110	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3815G>A; p.C1272Y; 7:94429291-94429291	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1447G>A; p.A483T; 7:94412626-94412626	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2573C>T; p.P858L; 7:94424343-94424343	breast	carcinoma	Substitution - Missense
c.2248A>C; p.N750H; 7:94420601-94420601	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1798G>T; p.A600S; 7:94416438-94416438	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4028A>C; p.D1343A; 7:94430320-94430320	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1991G>T; p.G664V; 7:94418518-94418518	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1966G>T; p.E656*; 7:94417826-94417826	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.898C>T; p.P300S; 7:94409570-94409570	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1560T>C; p.G520G; 7:94413692-94413692	pancreas	carcinoma	Substitution - coding silent
c.1560T>C; p.G520G; 7:94413692-94413692	pancreas	carcinoma	Substitution - coding silent
c.946G>T; p.G316C; 7:94409732-94409732	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3018C>T; p.G1006G; 7:94426443-94426443	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.937G>T; p.G313C; 7:94409723-94409723	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1543C>T; p.L515F; 7:94413122-94413122	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1832C>T; p.P611L; 7:94416472-94416472	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.346C>A; p.P116T; 7:94404714-94404714	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>T; p.G313C; 7:94409723-94409723	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3659C>G; p.S1220C; 7:94428425-94428425	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3358G>C; p.D1120H; 7:94427717-94427717	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3482G>A; p.R1161H; 7:94427841-94427841	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3076A>G; p.N1026D; 7:94426501-94426501	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2722C>T; p.P908S; 7:94425165-94425165	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3688G>T; p.E1230*; 7:94428454-94428454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.227A>G; p.N76S; 7:94401568-94401568	liver	carcinoma	Substitution - Missense
c.3705C>A; p.G1235G; 7:94428471-94428471	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.843C>T; p.P281P; 7:94409372-94409372	skin	malignant_melanoma	Substitution - coding silent
c.4058A>T; p.D1353V; 7:94430350-94430350	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3464C>A; p.S1155Y; 7:94427823-94427823	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2645G>A; p.R882H; 7:94424415-94424415	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.442_443GG>AA; p.G148K; 7:94405208-94405209	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251+7T>C; p.?; 7:94410949-94410949	liver	carcinoma; hepatocellular_carcinoma	Unknown

COSMIC somatic mutation [Top]