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	10257
Symbol	ABCC4
Synonymous	MOAT-B\|MOATB\|MRP4
Full name	ATP-binding cassette, sub-family C (CFTR/MRP), member 4
Gene description	MRP/cMOAT-related ABC transporter\|bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)\|canalicular multispecific organic anion transporter (ABC superfamily)\|multi-specific organic anion transporter B\|multidrug resistance-associated protein
Cytoband	13q32
Gene type	protein-coding
Synonymous	MIM:605250; HGNC:HGNC:55; Ensembl:ENSG00000125257; HPRD:05583; Vega:OTTHUMG00000017216

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.53T>G; p.L18R; 13:95301262-95301262	pancreas	carcinoma	Substitution - Missense
c.53T>G; p.L18R; 13:95301262-95301262	pancreas	carcinoma	Substitution - Missense
c.530A>C; p.K177T; 13:95234611-95234611	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2326G>A; p.V776I; 13:95161318-95161318	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1109C>T; p.P370L; 13:95206584-95206584	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.806C>T; p.T269M; 13:95207905-95207905	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.1270G>A; p.E424K; 13:95188536-95188536	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1208C>T; p.P403L; 13:95194891-95194891	large_intestine; caecum	adenoma	Substitution - Missense
c.346A>G; p.I116V; 13:95234795-95234795	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2672G>T; p.R891L; 13:95083154-95083154	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1701_1702GG>AA; p.E568K; 13:95177732-95177733	skin	malignant_melanoma	Substitution - Missense
c.1701_1702GG>AA; p.E568K; 13:95177732-95177733	skin	malignant_melanoma	Substitution - Missense
c.3655delA; p.I1219fs*11; 13:95043762-95043762	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3655delA; p.I1219fs*11; 13:95043762-95043762	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2308+1G>A; p.?; 13:95163121-95163121	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3655delA; p.I1219fs*11; 13:95043762-95043762	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3655delA; p.I1219fs*11; 13:95043762-95043762	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3244A>G; p.S1082G; 13:95062826-95062826	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3655delA; p.I1219fs*11; 13:95043762-95043762	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3655delA; p.I1219fs*11; 13:95043762-95043762	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3655delA; p.I1219fs*11; 13:95043762-95043762	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2308+1G>A; p.?; 13:95163121-95163121	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.3655delA; p.I1219fs*11; 13:95043762-95043762	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.3655delA; p.I1219fs*11; 13:95043762-95043762	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2308+1G>A; p.?; 13:95163121-95163121	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3796G>C; p.E1266Q; 13:95034679-95034679	oesophagus	carcinoma	Substitution - Missense
c.3655delA; p.I1219fs*11; 13:95043762-95043762	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1757T>C; p.I586T; 13:95170599-95170599	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1295C>T; p.S432F; 13:95188511-95188511	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.951A>G; p.R317R; 13:95206742-95206742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.244A>C; p.R82R; 13:95247037-95247037	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1295C>T; p.S432F; 13:95188511-95188511	skin	malignant_melanoma	Substitution - Missense
c.3493A>G; p.K1165E; 13:95044402-95044402	breast	carcinoma	Substitution - Missense
c.3844G>A; p.A1282T; 13:95034631-95034631	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3844G>A; p.A1282T; 13:95034631-95034631	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.137C>T; p.S46L; 13:95247691-95247691	breast	carcinoma	Substitution - Missense
c.3314C>A; p.T1105K; 13:95062756-95062756	breast	carcinoma	Substitution - Missense
c.2992C>T; p.R998*; 13:95073230-95073230	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2901C>T; p.S967S; 13:95074230-95074230	skin	malignant_melanoma	Substitution - coding silent
c.1991C>G; p.S664C; 13:95166201-95166201	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2899T>C; p.S967P; 13:95074232-95074232	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3569C>A; p.A1190E; 13:95044326-95044326	breast	carcinoma	Substitution - Missense
c.1114G>T; p.A372S; 13:95206579-95206579	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1315G>A; p.E439K; 13:95188491-95188491	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.90G>A; p.L30L; 13:95247738-95247738	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1860C>T; p.F620F; 13:95166332-95166332	skin; abdomen	malignant_melanoma	Substitution - coding silent
c.1315G>A; p.E439K; 13:95188491-95188491	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1671C>T; p.L557L; 13:95177763-95177763	skin	malignant_melanoma	Substitution - coding silent
c.3736-1G>T; p.?; 13:95034740-95034740	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3200C>T; p.S1067L; 13:95071672-95071672	skin	malignant_melanoma	Substitution - Missense
c.2471G>A; p.R824H; 13:95115986-95115986	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1314C>T; p.G438G; 13:95188492-95188492	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2807-1G>A; p.?; 13:95074325-95074325	urinary_tract; bladder	carcinoma	Unknown
c.1314C>T; p.G438G; 13:95188492-95188492	central_nervous_system; brain	glioma	Substitution - coding silent
c.3887A>G; p.N1296S; 13:95021666-95021666	skin	malignant_melanoma	Substitution - Missense
c.3877T>C; p.F1293L; 13:95021676-95021676	skin	malignant_melanoma	Substitution - Missense
c.1719G>A; p.L573L; 13:95177715-95177715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.665C>G; p.A222G; 13:95209554-95209554	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1155A>T; p.R385S; 13:95206538-95206538	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.378G>A; p.M126I; 13:95234763-95234763	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2308+2T>C; p.?; 13:95163120-95163120	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.786-1_786GG>AA; p.?; 13:95207925-95207926	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1112C>T; p.S371L; 13:95206581-95206581	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.640T>C; p.F214L; 13:95209579-95209579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1112C>T; p.S371L; 13:95206581-95206581	urinary_tract; bladder	carcinoma	Substitution - Missense
c.640T>C; p.F214L; 13:95209579-95209579	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2117G>A; p.R706K; 13:95164436-95164436	pancreas	carcinoma	Substitution - Missense
c.2639G>A; p.R880Q; 13:95083187-95083187	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1964C>G; p.S655*; 13:95166228-95166228	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3943C>T; p.P1315S; 13:95021610-95021610	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.531G>T; p.K177N; 13:95234610-95234610	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2648delT; p.L883fs*7; 13:95083178-95083178	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3867A>G; p.K1289K; 13:95034608-95034608	liver	carcinoma	Substitution - coding silent
c.3712A>G; p.I1238V; 13:95043705-95043705	liver	carcinoma	Substitution - Missense
c.3712A>G; p.I1238V; 13:95043705-95043705	liver	carcinoma	Substitution - Missense
c.3963C>T; p.F1321F; 13:95021590-95021590	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.406G>A; p.A136T; 13:95234735-95234735	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3854C>T; p.T1285I; 13:95034621-95034621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1665C>T; p.I555I; 13:95177769-95177769	breast	carcinoma	Substitution - coding silent
c.406G>A; p.A136T; 13:95234735-95234735	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1107C>T; p.F369F; 13:95206586-95206586	skin	malignant_melanoma	Substitution - coding silent
c.3210+1G>A; p.?; 13:95071661-95071661	stomach	carcinoma; adenocarcinoma	Unknown
c.2158C>T; p.L720L; 13:95164395-95164395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2121T>G; p.A707A; 13:95164432-95164432	skin	malignant_melanoma	Substitution - coding silent
c.798A>T; p.A266A; 13:95207913-95207913	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.3197A>C; p.K1066T; 13:95071675-95071675	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.682C>A; p.L228I; 13:95209537-95209537	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1028G>A; p.G343D; 13:95206665-95206665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3945C>T; p.P1315P; 13:95021608-95021608	skin	malignant_melanoma	Substitution - coding silent
c.2425C>T; p.P809S; 13:95161219-95161219	skin	malignant_melanoma	Substitution - Missense
c.1649A>G; p.Y550C; 13:95177785-95177785	skin	malignant_melanoma	Substitution - Missense
c.1199G>A; p.R400H; 13:95194900-95194900	breast	carcinoma	Substitution - Missense
c.969A>G; p.S323S; 13:95206724-95206724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1199G>A; p.R400H; 13:95194900-95194900	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1888C>G; p.L630V; 13:95166304-95166304	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.587A>G; p.N196S; 13:95210726-95210726	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3192C>T; p.L1064L; 13:95071680-95071680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1349G>T; p.G450V; 13:95188457-95188457	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3248C>T; p.S1083F; 13:95062822-95062822	skin	malignant_melanoma	Substitution - Missense
c.3248C>T; p.S1083F; 13:95062822-95062822	skin	malignant_melanoma	Substitution - Missense
c.1164C>T; p.T388T; 13:95194935-95194935	skin	malignant_melanoma	Substitution - coding silent
c.721A>G; p.M241V; 13:95209498-95209498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.753A>T; p.Q251H; 13:95209466-95209466	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3947C>T; p.S1316L; 13:95021606-95021606	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.269A>C; p.K90T; 13:95247012-95247012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1067C>A; p.T356K; 13:95206626-95206626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3168G>T; p.L1056L; 13:95071704-95071704	oesophagus	carcinoma	Substitution - coding silent
c.1411G>A; p.V471M; 13:95186835-95186835	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3334G>A; p.D1112N; 13:95062736-95062736	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1574T>C; p.L525P; 13:95178063-95178063	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3052G>T; p.D1018Y; 13:95071820-95071820	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3658C>T; p.R1220W; 13:95043759-95043759	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.576C>G; p.G192G; 13:95210737-95210737	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1982C>G; p.S661C; 13:95166210-95166210	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1982C>G; p.S661C; 13:95166210-95166210	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1563G>T; p.E521D; 13:95178074-95178074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3205G>T; p.E1069*; 13:95071667-95071667	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2686+1G>A; p.?; 13:95083139-95083139	lung	carcinoma; adenocarcinoma	Unknown
c.1200T>C; p.R400R; 13:95194899-95194899	pancreas	carcinoma	Substitution - coding silent
c.707C>T; p.S236L; 13:95209512-95209512	breast	carcinoma	Substitution - Missense
c.3089G>T; p.R1030L; 13:95071783-95071783	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2067G>A; p.E689E; 13:95164486-95164486	skin	malignant_melanoma	Substitution - coding silent
c.3271T>A; p.L1091M; 13:95062799-95062799	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1339G>A; p.V447M; 13:95188467-95188467	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1339G>A; p.V447M; 13:95188467-95188467	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2000C>T; p.P667L; 13:95166192-95166192	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.785+1G>C; p.?; 13:95209433-95209433	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3759A>T; p.K1253N; 13:95034716-95034716	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.952G>A; p.G318R; 13:95206741-95206741	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2963C>T; p.T988M; 13:95073259-95073259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.952G>A; p.G318R; 13:95206741-95206741	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1726C>T; p.L576L; 13:95177708-95177708	skin	malignant_melanoma	Substitution - coding silent
c.952G>A; p.G318R; 13:95206741-95206741	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3367-8G>T; p.?; 13:95053192-95053192	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.1204C>T; p.L402L; 13:95194895-95194895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1073A>G; p.Y358C; 13:95206620-95206620	liver	carcinoma	Substitution - Missense
c.110G>A; p.R37Q; 13:95247718-95247718	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.647G>T; p.W216L; 13:95209572-95209572	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1073A>G; p.Y358C; 13:95206620-95206620	liver	carcinoma	Substitution - Missense
c.720G>A; p.G240G; 13:95209499-95209499	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2900C>T; p.S967F; 13:95074231-95074231	skin	malignant_melanoma	Substitution - Missense
c.739C>T; p.L247F; 13:95209480-95209480	skin	malignant_melanoma	Substitution - Missense
c.3366G>T; p.Q1122H; 13:95062704-95062704	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3629+5A>T; p.?; 13:95044261-95044261	liver	carcinoma	Unknown
c.3629+5A>T; p.?; 13:95044261-95044261	liver	carcinoma	Unknown
c.670G>A; p.A224T; 13:95209549-95209549	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.670G>A; p.A224T; 13:95209549-95209549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.403T>C; p.Y135H; 13:95234738-95234738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.670G>A; p.A224T; 13:95209549-95209549	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3362C>T; p.P1121L; 13:95062708-95062708	liver	carcinoma	Substitution - Missense
c.3362C>T; p.P1121L; 13:95062708-95062708	liver	carcinoma	Substitution - Missense
c.434C>T; p.T145M; 13:95234707-95234707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.669T>C; p.I223I; 13:95209550-95209550	thyroid	other; neoplasm	Substitution - coding silent
c.2601C>T; p.P867P; 13:95083225-95083225	skin	malignant_melanoma	Substitution - coding silent
c.101G>A; p.G34D; 13:95247727-95247727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.226C>T; p.Q76*; 13:95247055-95247055	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; non_functioning	Substitution - Nonsense
c.1598C>A; p.T533N; 13:95178039-95178039	breast	carcinoma	Substitution - Missense
c.3157G>T; p.G1053C; 13:95071715-95071715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.793A>G; p.T265A; 13:95207918-95207918	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3392T>C; p.M1131T; 13:95053159-95053159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.273T>G; p.S91S; 13:95247008-95247008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3243A>C; p.K1081N; 13:95062827-95062827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.943T>A; p.C315S; 13:95206750-95206750	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.198A>T; p.K66N; 13:95247083-95247083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2426C>T; p.P809L; 13:95161218-95161218	pancreas	carcinoma	Substitution - Missense
c.676A>G; p.T226A; 13:95209543-95209543	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.676A>G; p.T226A; 13:95209543-95209543	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3316A>G; p.T1106A; 13:95062754-95062754	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.666G>T; p.A222A; 13:95209553-95209553	breast	carcinoma	Substitution - coding silent
c.2695C>T; p.P899S; 13:95075543-95075543	skin	malignant_melanoma	Substitution - Missense
c.1503G>T; p.K501N; 13:95186743-95186743	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2309-1G>C; p.?; 13:95161336-95161336	liver	carcinoma	Unknown
c.2309-1G>C; p.?; 13:95161336-95161336	liver	carcinoma	Unknown
c.1823A>T; p.D608V; 13:95170533-95170533	liver	carcinoma	Substitution - Missense
c.1823A>T; p.D608V; 13:95170533-95170533	liver	carcinoma	Substitution - Missense
c.3835G>A; p.A1279T; 13:95034640-95034640	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3871-5T>C; p.?; 13:95021687-95021687	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.2003C>T; p.S668F; 13:95166189-95166189	skin; acral	malignant_melanoma	Substitution - Missense
c.2872A>T; p.M958L; 13:95074259-95074259	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1102T>C; p.F368L; 13:95206591-95206591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2074delT; p.S692fs*29; 13:95164479-95164479	liver	carcinoma	Deletion - Frameshift
c.2364C>T; p.Y788Y; 13:95161280-95161280	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.832G>T; p.E278*; 13:95207879-95207879	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2365G>A; p.V789I; 13:95161279-95161279	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3411C>T; p.P1137P; 13:95053140-95053140	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1099C>T; p.L367F; 13:95206594-95206594	skin	malignant_melanoma	Substitution - Missense
c.2148C>T; p.F716F; 13:95164405-95164405	skin	malignant_melanoma	Substitution - coding silent
c.3735G>A; p.M1245I; 13:95043682-95043682	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2040G>A; p.E680E; 13:95164513-95164513	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - coding silent
c.29C>G; p.P10R; 13:95301286-95301286	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2848G>A; p.V950I; 13:95074283-95074283	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1886C>T; p.S629F; 13:95166306-95166306	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1715A>T; p.H572L; 13:95177719-95177719	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2848G>A; p.V950I; 13:95074283-95074283	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2732T>C; p.L911P; 13:95075506-95075506	breast	carcinoma	Substitution - Missense
c.3619G>A; p.V1207M; 13:95044276-95044276	breast	carcinoma	Substitution - Missense
c.1818G>A; p.L606L; 13:95170538-95170538	skin	malignant_melanoma	Substitution - coding silent
c.3802C>A; p.L1268I; 13:95034673-95034673	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2491C>T; p.H831Y; 13:95115966-95115966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1264-1G>T; p.?; 13:95188543-95188543	lung	carcinoma; adenocarcinoma	Unknown
c.3871-3delT; p.?; 13:95021685-95021685	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.3871-3delT; p.?; 13:95021685-95021685	skin	malignant_melanoma	Unknown
c.86C>T; p.P29L; 13:95247742-95247742	skin; trunk	malignant_melanoma	Substitution - Missense
c.874G>A; p.E292K; 13:95207837-95207837	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.502G>A; p.V168I; 13:95234639-95234639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2333T>C; p.F778S; 13:95161311-95161311	skin	malignant_melanoma	Substitution - Missense
c.1685T>G; p.L562R; 13:95177749-95177749	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3309C>G; p.I1103M; 13:95062761-95062761	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2573T>G; p.V858G; 13:95083253-95083253	breast	carcinoma	Substitution - Missense
c.3326G>C; p.G1109A; 13:95062744-95062744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1345G>T; p.A449S; 13:95188461-95188461	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.707C>G; p.S236W; 13:95209512-95209512	oesophagus	carcinoma	Substitution - Missense
c.2831C>T; p.T944M; 13:95074300-95074300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.546T>A; p.S182R; 13:95210767-95210767	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2986T>G; p.C996G; 13:95073236-95073236	skin	malignant_melanoma	Substitution - Missense
c.1104C>T; p.F368F; 13:95206589-95206589	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.606G>T; p.V202V; 13:95210707-95210707	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.872G>A; p.W291*; 13:95207839-95207839	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.619C>T; p.Q207*; 13:95210694-95210694	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1594G>A; p.G532R; 13:95178043-95178043	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.628G>T; p.V210L; 13:95209591-95209591	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.449T>C; p.I150T; 13:95234692-95234692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.449T>C; p.I150T; 13:95234692-95234692	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1162-1G>T; p.?; 13:95194938-95194938	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.3608C>T; p.A1203V; 13:95044287-95044287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2308G>C; p.G770R; 13:95163122-95163122	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.138A>T; p.S46S; 13:95247690-95247690	ovary	other; neoplasm	Substitution - coding silent
c.564G>C; p.K188N; 13:95210749-95210749	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.138A>T; p.S46S; 13:95247690-95247690	ovary	other; neoplasm	Substitution - coding silent
c.3837A>G; p.A1279A; 13:95034638-95034638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2887G>A; p.V963I; 13:95074244-95074244	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3837A>G; p.A1279A; 13:95034638-95034638	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3566G>T; p.R1189M; 13:95044329-95044329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.941C>G; p.S314C; 13:95206752-95206752	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1886C>A; p.S629Y; 13:95166306-95166306	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3413T>G; p.F1138C; 13:95053138-95053138	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.186-5T>C; p.?; 13:95247100-95247100	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1886C>A; p.S629Y; 13:95166306-95166306	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.1209G>A; p.P403P; 13:95194890-95194890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3663G>A; p.E1221E; 13:95043754-95043754	liver	carcinoma	Substitution - coding silent
c.2681C>G; p.S894C; 13:95083145-95083145	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3663G>A; p.E1221E; 13:95043754-95043754	liver	carcinoma	Substitution - coding silent
c.1529C>T; p.A510V; 13:95186717-95186717	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.128A>C; p.D43A; 13:95247700-95247700	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2593G>A; p.A865T; 13:95083233-95083233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2689C>T; p.R897W; 13:95075549-95075549	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2308+2T>G; p.?; 13:95163120-95163120	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1159C>T; p.Q387*; 13:95206534-95206534	skin	malignant_melanoma	Substitution - Nonsense
c.968C>T; p.S323L; 13:95206725-95206725	skin	malignant_melanoma	Substitution - Missense
c.1151G>A; p.R384Q; 13:95206542-95206542	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1151G>A; p.R384Q; 13:95206542-95206542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3425C>G; p.T1142R; 13:95053126-95053126	ovary	other; neoplasm	Substitution - Missense
c.3425C>G; p.T1142R; 13:95053126-95053126	ovary	other; neoplasm	Substitution - Missense
c.1588G>T; p.D530Y; 13:95178049-95178049	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3655_3656insA; p.I1219fs*22; 13:95043761-95043762	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1871G>A; p.G624D; 13:95166321-95166321	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3174G>A; p.L1058L; 13:95071698-95071698	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.343A>C; p.K115Q; 13:95234798-95234798	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1871G>A; p.G624D; 13:95166321-95166321	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1669C>T; p.L557F; 13:95177765-95177765	skin	malignant_melanoma	Substitution - Missense
c.1601C>T; p.T534M; 13:95178036-95178036	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.642C>T; p.F214F; 13:95209577-95209577	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.642C>T; p.F214F; 13:95209577-95209577	skin	malignant_melanoma	Substitution - coding silent
c.642C>T; p.F214F; 13:95209577-95209577	skin	malignant_melanoma	Substitution - coding silent
c.2215G>A; p.A739T; 13:95163215-95163215	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1169_1170insT; p.L390fs*4; 13:95194929-95194930	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1698T>C; p.D566D; 13:95177736-95177736	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3948G>A; p.S1316S; 13:95021605-95021605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation