lung cancer gene and literature database Home

Annotation category 5

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

Gene information

Gene ID	4363
Symbol	ABCC1
Synonymous	ABC29\|ABCC\|GS-X\|MRP\|MRP1
Full name	ATP-binding cassette, sub-family C (CFTR/MRP), member 1
Gene description	ATP-binding cassette transporter variant ABCC1delta-ex13\|ATP-binding cassette transporter variant ABCC1delta-ex13&14\|ATP-binding cassette transporter variant ABCC1delta-ex25\|ATP-binding cassette transporter variant ABCC1delta-ex25&26\|LTC4 transporter\|leuk
Cytoband	16p13.1
Gene type	protein-coding
Synonymous	MIM:158343; HGNC:HGNC:51; Ensembl:ENSG00000103222; HPRD:01153; Vega:OTTHUMG00000048267

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.434C>T; p.A145V; 16:16014573-16014573	liver	carcinoma	Substitution - Missense
c.1442C>A; p.A481D; 16:16052785-16052785	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1705G>A; p.V569M; 16:16068183-16068183	stomach	adenocarcinoma	Substitution - Missense
c.1818C>T; p.I606I; 16:16068296-16068296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3129G>A; p.L1043L; 16:16114815-16114815	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4153C>T; p.R1385*; 16:16136505-16136505	skin	malignant_melanoma	Substitution - Nonsense
c.4582G>A; p.A1528T; 16:16141267-16141267	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4153C>T; p.R1385*; 16:16136505-16136505	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1461C>T; p.T487T; 16:16052804-16052804	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2919C>A; p.F973L; 16:16111422-16111422	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2772C>T; p.I924I; 16:16106774-16106774	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2772C>T; p.I924I; 16:16106774-16106774	breast	carcinoma	Substitution - coding silent
c.4016G>C; p.G1339A; 16:16134399-16134399	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2547G>T; p.M849I; 16:16090491-16090491	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.960C>T; p.T320T; 16:16044600-16044600	skin	malignant_melanoma	Substitution - coding silent
c.983G>A; p.S328N; 16:16044623-16044623	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.49-1G>A; p.?; 16:16007815-16007815	skin	malignant_melanoma	Unknown
c.2795C>T; p.A932V; 16:16106797-16106797	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2381C>T; p.P794L; 16:16086912-16086912	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3622A>G; p.N1208D; 16:16124820-16124820	breast	carcinoma	Substitution - Missense
c.3486C>T; p.V1162V; 16:16122070-16122070	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2273G>A; p.R758Q; 16:16083523-16083523	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2809G>A; p.A937T; 16:16106811-16106811	skin	malignant_melanoma	Substitution - Missense
c.1484T>C; p.M495T; 16:16056102-16056102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3346G>A; p.A1116T; 16:16115032-16115032	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.879G>A; p.A293A; 16:16044519-16044519	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3346G>A; p.A1116T; 16:16115032-16115032	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3346G>A; p.A1116T; 16:16115032-16115032	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.417C>T; p.L139L; 16:16014556-16014556	breast	carcinoma	Substitution - coding silent
c.3447C>T; p.S1149S; 16:16122031-16122031	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.609C>T; p.H203H; 16:16016615-16016615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3834C>G; p.I1278M; 16:16131803-16131803	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2762G>A; p.S921N; 16:16106764-16106764	large_intestine; colon	adenoma	Substitution - Missense
c.2287G>A; p.E763K; 16:16083537-16083537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2308G>A; p.G770R; 16:16086839-16086839	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3708C>G; p.Y1236*; 16:16124906-16124906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3902G>A; p.R1301H; 16:16131871-16131871	ovary	carcinoma	Substitution - Missense
c.3140G>A; p.C1047Y; 16:16114826-16114826	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1825-6G>C; p.?; 16:16071636-16071636	pancreas	carcinoma	Unknown
c.3564C>A; p.A1188A; 16:16122148-16122148	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2380C>T; p.P794S; 16:16086911-16086911	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1872G>T; p.E624D; 16:16071689-16071689	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1866T>C; p.H622H; 16:16071683-16071683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1863C>T; p.S621S; 16:16071680-16071680	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.642C>A; p.S214S; 16:16033135-16033135	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.503A>T; p.D168V; 16:16016509-16016509	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2121C>T; p.S707S; 16:16083371-16083371	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1873C>A; p.L625M; 16:16071690-16071690	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1879C>T; p.P627S; 16:16071696-16071696	skin; extremity	malignant_melanoma	Substitution - Missense
c.2121C>T; p.S707S; 16:16083371-16083371	skin	malignant_melanoma	Substitution - coding silent
c.3425G>A; p.R1142H; 16:16122009-16122009	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.4024C>T; p.R1342W; 16:16134407-16134407	skin	malignant_melanoma	Substitution - Missense
c.4024C>T; p.R1342W; 16:16134407-16134407	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2026G>A; p.V676M; 16:16079389-16079389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3566A>G; p.Y1189C; 16:16122150-16122150	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3385G>A; p.V1129I; 16:16115071-16115071	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3821C>T; p.A1274V; 16:16131790-16131790	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2967G>A; p.A989A; 16:16111470-16111470	pancreas	carcinoma	Substitution - coding silent
c.1792A>G; p.I598V; 16:16068270-16068270	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.4011C>A; p.T1337T; 16:16134394-16134394	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1922C>T; p.T641M; 16:16076335-16076335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1537A>G; p.K513E; 16:16056155-16056155	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4277G>A; p.G1426D; 16:16136629-16136629	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.150delC; p.F52fs*16; 16:16007917-16007917	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2551T>C; p.S851P; 16:16090495-16090495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3930C>T; p.L1310L; 16:16131899-16131899	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3525C>T; p.I1175I; 16:16122109-16122109	skin	malignant_melanoma	Substitution - coding silent
c.4133T>C; p.V1378A; 16:16136485-16136485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3263C>T; p.P1088L; 16:16114949-16114949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4417C>T; p.R1473W; 16:16138488-16138488	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2928C>A; p.F976L; 16:16111431-16111431	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4529delC; p.P1511fs*>21; 16:16141214-16141214	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2961G>T; p.V987V; 16:16111464-16111464	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.731T>C; p.L244S; 16:16036525-16036525	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3282C>T; p.F1094F; 16:16114968-16114968	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.196C>G; p.Q66E; 16:16007963-16007963	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1802T>C; p.M601T; 16:16068280-16068280	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3504C>T; p.F1168F; 16:16122088-16122088	skin	malignant_melanoma	Substitution - coding silent
c.2047G>A; p.G683R; 16:16079410-16079410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2929C>T; p.L977F; 16:16111432-16111432	liver	carcinoma	Substitution - Missense
c.2929C>T; p.L977F; 16:16111432-16111432	liver	carcinoma	Substitution - Missense
c.4002G>A; p.S1334S; 16:16134385-16134385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4002G>A; p.S1334S; 16:16134385-16134385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.854C>T; p.P285L; 16:16044494-16044494	skin	malignant_melanoma	Substitution - Missense
c.1668G>A; p.T556T; 16:16056286-16056286	breast	carcinoma	Substitution - coding silent
c.3336G>A; p.T1112T; 16:16115022-16115022	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3923T>A; p.F1308Y; 16:16131892-16131892	pancreas	carcinoma	Substitution - Missense
c.1396G>A; p.V466I; 16:16052739-16052739	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4249G>C; p.D1417H; 16:16136601-16136601	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2625G>T; p.E875D; 16:16090569-16090569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2326G>A; p.V776M; 16:16086857-16086857	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2180delT; p.F728fs*13; 16:16083430-16083430	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.903C>T; p.I301I; 16:16044543-16044543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.903C>T; p.I301I; 16:16044543-16044543	skin	malignant_melanoma	Substitution - coding silent
c.1773C>T; p.I591I; 16:16068251-16068251	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1827G>A; p.A609A; 16:16071644-16071644	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3453C>T; p.V1151V; 16:16122037-16122037	skin	malignant_melanoma	Substitution - coding silent
c.1468T>C; p.Y490H; 16:16052811-16052811	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3677G>A; p.S1226N; 16:16124875-16124875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.536T>A; p.F179Y; 16:16016542-16016542	skin	malignant_melanoma	Substitution - Missense
c.175C>T; p.R59*; 16:16007942-16007942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1586T>C; p.L529P; 16:16056204-16056204	liver	carcinoma	Substitution - Missense
c.2254A>C; p.I752L; 16:16083504-16083504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1915delG; p.G640fs*7; 16:16076328-16076328	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2941C>A; p.L981I; 16:16111444-16111444	skin	malignant_melanoma	Substitution - Missense
c.2251G>A; p.E751K; 16:16083501-16083501	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2557C>T; p.Q853*; 16:16090501-16090501	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3718G>A; p.V1240I; 16:16125810-16125810	oesophagus	carcinoma	Substitution - Missense
c.3718G>A; p.V1240I; 16:16125810-16125810	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3320T>C; p.V1107A; 16:16115006-16115006	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3718G>A; p.V1240I; 16:16125810-16125810	stomach	adenocarcinoma	Substitution - Missense
c.480C>T; p.A160A; 16:16014619-16014619	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1102G>A; p.V368M; 16:16045897-16045897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3036G>A; p.T1012T; 16:16111539-16111539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1599G>A; p.Q533Q; 16:16056217-16056217	breast	carcinoma	Substitution - coding silent
c.453C>T; p.A151A; 16:16014592-16014592	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1599G>A; p.Q533Q; 16:16056217-16056217	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.636C>T; p.S212S; 16:16033129-16033129	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3450G>A; p.P1150P; 16:16122034-16122034	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.747G>A; p.T249T; 16:16036541-16036541	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4353T>A; p.L1451L; 16:16138424-16138424	ovary	other; neoplasm	Substitution - coding silent
c.3763G>A; p.E1255K; 16:16125855-16125855	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.487G>T; p.E163*; 16:16014626-16014626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.534C>G; p.Y178*; 16:16016540-16016540	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.4304G>A; p.R1435H; 16:16138375-16138375	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.534C>G; p.Y178*; 16:16016540-16016540	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3924C>T; p.F1308F; 16:16131893-16131893	skin	malignant_melanoma	Substitution - coding silent
c.777G>A; p.K259K; 16:16036571-16036571	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3848C>T; p.P1283L; 16:16131817-16131817	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2036A>T; p.Q679L; 16:16079399-16079399	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3848C>T; p.P1283L; 16:16131817-16131817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1202G>C; p.G401A; 16:16045997-16045997	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1316C>G; p.T439R; 16:16048239-16048239	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3720C>T; p.V1240V; 16:16125812-16125812	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3496C>T; p.R1166*; 16:16122080-16122080	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.681G>A; p.L227L; 16:16036475-16036475	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1317G>A; p.T439T; 16:16048240-16048240	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.191A>G; p.Y64C; 16:16007958-16007958	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4466A>G; p.N1489S; 16:16138537-16138537	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2750C>T; p.S917F; 16:16106752-16106752	skin	malignant_melanoma	Substitution - Missense
c.4378G>A; p.V1460M; 16:16138449-16138449	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.345C>G; p.I115M; 16:16009895-16009895	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1218G>A; p.K406K; 16:16046013-16046013	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.584C>T; p.S195L; 16:16016590-16016590	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1261G>A; p.G421R; 16:16048184-16048184	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1844G>A; p.R615H; 16:16071661-16071661	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1749C>T; p.F583F; 16:16068227-16068227	skin	malignant_melanoma	Substitution - coding silent
c.735C>T; p.N245N; 16:16036529-16036529	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1783C>T; p.P595S; 16:16068261-16068261	skin; trunk	malignant_melanoma	Substitution - Missense
c.2694T>C; p.N898N; 16:16102676-16102676	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4573G>A; p.A1525T; 16:16141258-16141258	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3403G>A; p.A1135T; 16:16121987-16121987	liver	carcinoma	Substitution - Missense
c.4476G>T; p.M1492I; 16:16138547-16138547	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3403G>A; p.A1135T; 16:16121987-16121987	liver	carcinoma	Substitution - Missense
c.3301G>T; p.V1101F; 16:16114987-16114987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3301G>T; p.V1101F; 16:16114987-16114987	large_intestine; colon	carcinoma	Substitution - Missense
c.4476G>T; p.M1492I; 16:16138547-16138547	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4528G>A; p.A1510T; 16:16141213-16141213	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1801A>G; p.M601V; 16:16068279-16068279	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.413T>A; p.M138K; 16:16014552-16014552	liver	carcinoma	Substitution - Missense
c.413T>A; p.M138K; 16:16014552-16014552	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4455C>A; p.A1485A; 16:16138526-16138526	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.2580C>T; p.G860G; 16:16090524-16090524	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3549C>T; p.D1183D; 16:16122133-16122133	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.705C>T; p.P235P; 16:16036499-16036499	skin	malignant_melanoma	Substitution - coding silent
c.3804A>G; p.S1268S; 16:16125896-16125896	prostate	carcinoma	Substitution - coding silent
c.1257G>A; p.T419T; 16:16048180-16048180	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4317C>T; p.C1439C; 16:16138388-16138388	liver	carcinoma	Substitution - coding silent
c.836C>T; p.S279F; 16:16044476-16044476	pancreas	carcinoma	Substitution - Missense
c.4317C>T; p.C1439C; 16:16138388-16138388	liver	carcinoma	Substitution - coding silent
c.836C>T; p.S279F; 16:16044476-16044476	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1651T>G; p.F551V; 16:16056269-16056269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1213C>A; p.R405R; 16:16046008-16046008	liver	carcinoma	Substitution - coding silent
c.2387C>G; p.S796*; 16:16086918-16086918	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3384C>T; p.F1128F; 16:16115070-16115070	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.785A>G; p.K262R; 16:16036579-16036579	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.620C>T; p.P207L; 16:16033113-16033113	skin	malignant_melanoma	Substitution - Missense
c.267C>T; p.L89L; 16:16009817-16009817	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.620C>T; p.P207L; 16:16033113-16033113	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3074C>T; p.S1025L; 16:16111577-16111577	skin	malignant_melanoma	Substitution - Missense
c.3186C>A; p.S1062R; 16:16114872-16114872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4303C>A; p.R1435S; 16:16138374-16138374	liver	carcinoma	Substitution - Missense
c.687C>T; p.V229V; 16:16036481-16036481	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2879T>G; p.L960R; 16:16111382-16111382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2929C>G; p.L977V; 16:16111432-16111432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1390C>G; p.P464A; 16:16052733-16052733	breast	carcinoma	Substitution - Missense
c.3430G>A; p.E1144K; 16:16122014-16122014	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2099G>C; p.G700A; 16:16079462-16079462	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2442G>A; p.K814K; 16:16086973-16086973	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2136A>T; p.P712P; 16:16083386-16083386	skin	malignant_melanoma	Substitution - coding silent
c.4184C>A; p.S1395*; 16:16136536-16136536	liver	carcinoma	Substitution - Nonsense
c.4184C>A; p.S1395*; 16:16136536-16136536	liver	carcinoma	Substitution - Nonsense
c.3947C>G; p.T1316R; 16:16131916-16131916	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2882C>T; p.S961F; 16:16111385-16111385	skin	malignant_melanoma	Substitution - Missense
c.1816A>G; p.I606V; 16:16068294-16068294	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1964G>T; p.R655M; 16:16076377-16076377	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3343G>A; p.A1115T; 16:16115029-16115029	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1207G>T; p.V403F; 16:16046002-16046002	breast	carcinoma	Substitution - Missense
c.597G>A; p.S199S; 16:16016603-16016603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.597G>A; p.S199S; 16:16016603-16016603	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.4295T>C; p.V1432A; 16:16138366-16138366	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1699G>A; p.V567I; 16:16068177-16068177	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1213C>T; p.R405W; 16:16046008-16046008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1532G>T; p.G511V; 16:16056150-16056150	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2325C>T; p.R775R; 16:16086856-16086856	liver	carcinoma	Substitution - coding silent
c.3157C>T; p.L1053L; 16:16114843-16114843	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1912+1_1912+2delGT; p.?; 16:16071730-16071731	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2756C>A; p.S919Y; 16:16106758-16106758	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1483A>T; p.M495L; 16:16056101-16056101	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2397T>C; p.D799D; 16:16086928-16086928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.949T>G; p.L317V; 16:16044589-16044589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3317T>C; p.I1106T; 16:16115003-16115003	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1502G>A; p.R501Q; 16:16056120-16056120	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1502G>A; p.R501Q; 16:16056120-16056120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.610G>A; p.D204N; 16:16016616-16016616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1502G>A; p.R501Q; 16:16056120-16056120	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.458T>C; p.L153P; 16:16014597-16014597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3441C>T; p.S1147S; 16:16122025-16122025	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1407A>G; p.G469G; 16:16052750-16052750	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1192G>A; p.A398T; 16:16045987-16045987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1101C>T; p.T367T; 16:16045896-16045896	skin	malignant_melanoma	Substitution - coding silent
c.457C>A; p.L153M; 16:16014596-16014596	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.456C>T; p.I152I; 16:16014595-16014595	skin	malignant_melanoma	Substitution - coding silent
c.456C>T; p.I152I; 16:16014595-16014595	skin	malignant_melanoma	Substitution - coding silent
c.642C>T; p.S214S; 16:16033135-16033135	skin	malignant_melanoma	Substitution - coding silent
c.946G>T; p.V316L; 16:16044586-16044586	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3085G>A; p.A1029T; 16:16114771-16114771	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.829T>C; p.Y277H; 16:16044469-16044469	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3442C>T; p.R1148C; 16:16122026-16122026	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3595C>T; p.L1199L; 16:16124793-16124793	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.184C>T; p.R62*; 16:16007951-16007951	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.2645G>A; p.G882E; 16:16102627-16102627	kidney	other; neoplasm	Substitution - Missense
c.4303C>T; p.R1435C; 16:16138374-16138374	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4142C>T; p.S1381L; 16:16136494-16136494	skin	malignant_melanoma	Substitution - Missense
c.4371G>A; p.T1457T; 16:16138442-16138442	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2241C>T; p.L747L; 16:16083491-16083491	skin	malignant_melanoma	Substitution - coding silent
c.4142C>T; p.S1381L; 16:16136494-16136494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.59T>C; p.V20A; 16:16007826-16007826	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1363C>T; p.L455F; 16:16048286-16048286	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4440C>T; p.T1480T; 16:16138511-16138511	liver	carcinoma	Substitution - coding silent
c.2148G>A; p.W716*; 16:16083398-16083398	skin	malignant_melanoma	Substitution - Nonsense
c.3261C>A; p.I1087I; 16:16114947-16114947	breast	carcinoma	Substitution - coding silent
c.549C>T; p.L183L; 16:16016555-16016555	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3136C>T; p.R1046C; 16:16114822-16114822	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2815G>A; p.A939T; 16:16106817-16106817	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3019G>A; p.G1007R; 16:16111522-16111522	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1985A>G; p.N662S; 16:16076398-16076398	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2003T>G; p.I668S; 16:16079366-16079366	liver	carcinoma	Substitution - Missense
c.1667delC; p.T556fs*14; 16:16056285-16056285	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2003T>G; p.I668S; 16:16079366-16079366	liver	carcinoma	Substitution - Missense
c.1767C>T; p.F589F; 16:16068245-16068245	skin	malignant_melanoma	Substitution - coding silent
c.1912+1_1912+2delGT; p.?; 16:16071730-16071731	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1912+1_1912+2delGT; p.?; 16:16071730-16071731	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.3603G>A; p.V1201V; 16:16124801-16124801	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3603G>A; p.V1201V; 16:16124801-16124801	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1221C>A; p.A407A; 16:16048144-16048144	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4093G>A; p.D1365N; 16:16134476-16134476	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2859G>A; p.A953A; 16:16106861-16106861	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4074C>T; p.I1358I; 16:16134457-16134457	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3966+1G>A; p.?; 16:16131936-16131936	skin	malignant_melanoma	Unknown
c.3325C>T; p.L1109L; 16:16115011-16115011	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.866C>A; p.S289Y; 16:16044506-16044506	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4585G>A; p.G1529S; 16:16141270-16141270	NS	malignant_melanoma	Substitution - Missense
c.3325C>T; p.L1109L; 16:16115011-16115011	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1895G>A; p.R632Q; 16:16071712-16071712	oesophagus	carcinoma	Substitution - Missense
c.154T>C; p.F52L; 16:16007921-16007921	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2765G>C; p.G922A; 16:16106767-16106767	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1716C>T; p.D572D; 16:16068194-16068194	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1519G>A; p.E507K; 16:16056137-16056137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3956G>T; p.G1319V; 16:16131925-16131925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.539C>G; p.S180C; 16:16016545-16016545	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2462C>T; p.T821M; 16:16090406-16090406	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4522T>C; p.Y1508H; 16:16141207-16141207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2693A>G; p.N898S; 16:16102675-16102675	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3408C>T; p.S1136S; 16:16121992-16121992	skin	malignant_melanoma	Substitution - coding silent
c.1467G>T; p.T489T; 16:16052810-16052810	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3532A>C; p.S1178R; 16:16122116-16122116	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2857G>C; p.A953P; 16:16106859-16106859	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1835C>T; p.S612F; 16:16071652-16071652	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2406G>T; p.V802V; 16:16086937-16086937	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4460G>A; p.R1487Q; 16:16138531-16138531	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.3781G>A; p.V1261M; 16:16125873-16125873	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2168G>A; p.R723Q; 16:16083418-16083418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3781G>A; p.V1261M; 16:16125873-16125873	breast	carcinoma	Substitution - Missense
c.4205C>T; p.S1402F; 16:16136557-16136557	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3612G>T; p.E1204D; 16:16124810-16124810	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4453G>A; p.A1485T; 16:16138524-16138524	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4453G>A; p.A1485T; 16:16138524-16138524	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3803C>T; p.S1268L; 16:16125895-16125895	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1797C>G; p.L599L; 16:16068275-16068275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1316C>T; p.T439M; 16:16048239-16048239	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.479C>T; p.A160V; 16:16014618-16014618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2188T>A; p.C730S; 16:16083438-16083438	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4080G>A; p.K1360K; 16:16134463-16134463	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.553C>T; p.Q185*; 16:16016559-16016559	skin	malignant_melanoma	Substitution - Nonsense
c.872T>G; p.V291G; 16:16044512-16044512	breast	carcinoma	Substitution - Missense
c.3626G>A; p.C1209Y; 16:16124824-16124824	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.111C>T; p.V37V; 16:16007878-16007878	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.111C>T; p.V37V; 16:16007878-16007878	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.4419G>A; p.R1473R; 16:16138490-16138490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4185G>A; p.S1395S; 16:16136537-16136537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4360G>A; p.D1454N; 16:16138431-16138431	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2912G>A; p.G971E; 16:16111415-16111415	skin	malignant_melanoma	Substitution - Missense
c.2360A>G; p.D787G; 16:16086891-16086891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3936C>T; p.H1312H; 16:16131905-16131905	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2958T>C; p.H986H; 16:16111461-16111461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4544T>A; p.L1515Q; 16:16141229-16141229	breast	carcinoma	Substitution - Missense
c.2026G>T; p.V676L; 16:16079389-16079389	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3088delG; p.V1030fs*32; 16:16114774-16114774	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.4526G>A; p.G1509D; 16:16141211-16141211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4297G>A; p.G1433R; 16:16138368-16138368	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4297G>A; p.G1433R; 16:16138368-16138368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.975C>T; p.F325F; 16:16044615-16044615	skin	malignant_melanoma	Substitution - coding silent
c.2583C>T; p.A861A; 16:16090527-16090527	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4297G>A; p.G1433R; 16:16138368-16138368	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.141G>T; p.W47C; 16:16007908-16007908	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.114C>G; p.L38L; 16:16007881-16007881	breast	carcinoma	Substitution - coding silent
c.2120C>T; p.S707F; 16:16083370-16083370	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4156A>G; p.M1386V; 16:16136508-16136508	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1218_1218+1GG>AA; p.?; 16:16046013-16046014	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1717G>A; p.E573K; 16:16068195-16068195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.334C>G; p.L112V; 16:16009884-16009884	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1415T>G; p.V472G; 16:16052758-16052758	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3477G>T; p.L1159F; 16:16122061-16122061	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2794G>A; p.A932T; 16:16106796-16106796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1540G>A; p.V514M; 16:16056158-16056158	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation