Entrez Gene

Basic Information
Gene ID	26018
Name	LRIG1
Synonymous	leucine-rich repeats and immunoglobulin-like domains 1;LRIG1;leucine-rich repeats and immunoglobulin-like domains 1
Definition	leucine-rich repeat protein LRIG1\|leucine-rich repeats and immunoglobulin-like domains protein 1\|ortholog of mouse integral membrane glycoprotein LIG-1
Position	3p14
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.14.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1378C>A; p.L460M; 3:66394130-66394130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2760delA; p.H921fs*84; 3:66381489-66381489	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.2667C>T; p.S889S; 3:66381582-66381582	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.297C>G; p.L99L; 3:66451627-66451627	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.592A>C; p.N198H; 3:66414975-66414975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2951C>A; p.A984D; 3:66380681-66380681	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.189C>G; p.P63P; 3:66500219-66500219	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1136C>T; p.S379L; 3:66405222-66405222	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>A; p.T152T; 3:66417176-66417176	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1566C>T; p.S522S; 3:66386204-66386204	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1354C>G; p.P452A; 3:66394154-66394154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2413G>A; p.V805I; 3:66383060-66383060	oesophagus	carcinoma	Substitution - Missense
c.1739C>T; p.T580I; 3:66386031-66386031	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2251C>T; p.Q751*; 3:66383222-66383222	skin	malignant_melanoma	Substitution - Nonsense
c.3259C>G; p.L1087V; 3:66380286-66380286	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.798G>T; p.L266L; 3:66410266-66410266	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3154G>T; p.A1052S; 3:66380391-66380391	skin	malignant_melanoma	Substitution - Missense
c.1688A>C; p.H563P; 3:66386082-66386082	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2316G>C; p.E772D; 3:66383157-66383157	breast	carcinoma	Substitution - Missense
c.1653G>C; p.Q551H; 3:66386117-66386117	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2205C>T; p.L735L; 3:66383268-66383268	NS	NS	Substitution - coding silent
c.3255G>A; p.V1085V; 3:66380290-66380290	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1217A>C; p.E406A; 3:66398985-66398985	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1217A>C; p.E406A; 3:66398985-66398985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1445_1446delTG; p.V482fs*9; 3:66394062-66394063	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1486C>T; p.Q496*; 3:66386284-66386284	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.286G>T; p.E96*; 3:66462442-66462442	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.344C>T; p.S115L; 3:66451580-66451580	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.882C>T; p.S294S; 3:66410182-66410182	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1812G>A; p.T604T; 3:66384250-66384250	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2353G>T; p.G785C; 3:66383120-66383120	skin	malignant_melanoma	Substitution - Missense
c.351C>T; p.V117V; 3:66451573-66451573	skin	malignant_melanoma	Substitution - coding silent
c.331G>A; p.G111S; 3:66451593-66451593	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.351C>T; p.V117V; 3:66451573-66451573	skin	malignant_melanoma	Substitution - coding silent
c.3145C>T; p.R1049C; 3:66380400-66380400	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.750G>A; p.L250L; 3:66412912-66412912	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.750G>A; p.L250L; 3:66412912-66412912	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.311T>C; p.L104S; 3:66451613-66451613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.238C>T; p.L80F; 3:66462490-66462490	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3160T>C; p.Y1054H; 3:66380385-66380385	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2131G>A; p.A711T; 3:66383342-66383342	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.238C>T; p.L80F; 3:66462490-66462490	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1209G>A; p.S403S; 3:66398993-66398993	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1209G>A; p.S403S; 3:66398993-66398993	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1493T>C; p.I498T; 3:66386277-66386277	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1251G>A; p.A417A; 3:66398165-66398165	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.943T>A; p.S315T; 3:66407484-66407484	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1251G>A; p.A417A; 3:66398165-66398165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.142G>T; p.A48S; 3:66500266-66500266	pancreas	carcinoma	Substitution - Missense
c.1129G>A; p.A377T; 3:66405229-66405229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3240C>T; p.P1080P; 3:66380305-66380305	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.890G>A; p.R297H; 3:66410174-66410174	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.671G>A; p.R224Q; 3:66412991-66412991	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2165C>T; p.P722L; 3:66383308-66383308	skin	malignant_melanoma	Substitution - Missense
c.864C>T; p.L288L; 3:66410200-66410200	skin	malignant_melanoma	Substitution - coding silent
c.2137C>A; p.Q713K; 3:66383336-66383336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.293A>G; p.Y98C; 3:66451631-66451631	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1467C>T; p.C489C; 3:66394041-66394041	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1999G>A; p.A667T; 3:66384063-66384063	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2279G>A; p.R760Q; 3:66383194-66383194	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1504G>C; p.E502Q; 3:66386266-66386266	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3147C>T; p.R1049R; 3:66380398-66380398	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1232+1G>A; p.?; 3:66398969-66398969	urinary_tract; bladder	carcinoma	Unknown
c.1683C>A; p.I561I; 3:66386087-66386087	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2730G>A; p.A910A; 3:66381519-66381519	thyroid	other; neoplasm	Substitution - coding silent
c.1538G>A; p.R513Q; 3:66386232-66386232	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2150C>T; p.T717M; 3:66383323-66383323	breast	carcinoma	Substitution - Missense
c.1316G>A; p.S439N; 3:66394192-66394192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1461C>T; p.F487F; 3:66394047-66394047	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.287A>C; p.E96A; 3:66462441-66462441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1776G>A; p.R592R; 3:66385994-66385994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1128C>T; p.G376G; 3:66405230-66405230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.809G>A; p.S270N; 3:66410255-66410255	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.345A>C; p.S115S; 3:66451579-66451579	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1693C>T; p.R565C; 3:66386077-66386077	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1519A>G; p.M507V; 3:66386251-66386251	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1621G>A; p.D541N; 3:66386149-66386149	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1621G>A; p.D541N; 3:66386149-66386149	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1941C>A; p.R647R; 3:66384121-66384121	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2605A>T; p.I869F; 3:66382285-66382285	skin	malignant_melanoma	Substitution - Missense
c.2939G>A; p.C980Y; 3:66380693-66380693	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2261T>C; p.V754A; 3:66383212-66383212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1232+2T>C; p.?; 3:66398968-66398968	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.352G>A; p.V118I; 3:66451572-66451572	urinary_tract; bladder	carcinoma	Substitution - Missense
c.689C>A; p.T230N; 3:66412973-66412973	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1140G>A; p.G380G; 3:66405218-66405218	skin	malignant_melanoma	Substitution - coding silent
c.352G>A; p.V118I; 3:66451572-66451572	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>A; p.G181E; 3:66415025-66415025	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.488C>T; p.P163L; 3:66417144-66417144	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.334G>A; p.A112T; 3:66451590-66451590	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.334G>A; p.A112T; 3:66451590-66451590	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.420C>T; p.S140S; 3:66417212-66417212	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1166T>C; p.L389P; 3:66399036-66399036	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2530T>A; p.S844T; 3:66382360-66382360	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1010G>A; p.R337H; 3:66407417-66407417	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.953A>G; p.N318S; 3:66407474-66407474	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.464G>A; p.R155Q; 3:66417168-66417168	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2035G>A; p.G679S; 3:66384027-66384027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2290G>A; p.E764K; 3:66383183-66383183	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.762C>T; p.A254A; 3:66412900-66412900	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1119C>A; p.D373E; 3:66405239-66405239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1127G>A; p.G376D; 3:66405231-66405231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2401G>A; p.V801M; 3:66383072-66383072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2574G>T; p.R858S; 3:66382316-66382316	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2574G>T; p.R858S; 3:66382316-66382316	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2950G>T; p.A984S; 3:66380682-66380682	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.659G>A; p.R220Q; 3:66413003-66413003	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2312C>T; p.T771M; 3:66383161-66383161	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3103G>A; p.E1035K; 3:66380442-66380442	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2853T>C; p.P951P; 3:66380779-66380779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2481C>G; p.V827V; 3:66382992-66382992	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2668G>A; p.V890I; 3:66381581-66381581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1603G>T; p.E535*; 3:66386167-66386167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3243G>A; p.G1081G; 3:66380302-66380302	skin	malignant_melanoma	Substitution - coding silent
c.848C>T; p.T283M; 3:66410216-66410216	pancreas	carcinoma	Substitution - Missense
c.848C>T; p.T283M; 3:66410216-66410216	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1567_1569delAGC; p.S524delS; 3:66386201-66386203	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.1567_1569delAGC; p.S524delS; 3:66386201-66386203	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.1567_1569delAGC; p.S524delS; 3:66386201-66386203	NS	malignant_melanoma	Deletion - In frame
c.1772C>A; p.A591D; 3:66385998-66385998	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1772C>A; p.A591D; 3:66385998-66385998	large_intestine; colon	carcinoma	Substitution - Missense
c.1772C>A; p.A591D; 3:66385998-66385998	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.409G>A; p.A137T; 3:66417223-66417223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.307G>T; p.E103*; 3:66451617-66451617	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1461C>A; p.F487L; 3:66394047-66394047	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.387C>T; p.S129S; 3:66417245-66417245	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.387C>T; p.S129S; 3:66417245-66417245	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2597A>G; p.N866S; 3:66382293-66382293	pancreas	carcinoma	Substitution - Missense
c.2656G>A; p.D886N; 3:66381593-66381593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.817delG; p.E273fs*2; 3:66410247-66410247	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2656G>A; p.D886N; 3:66381593-66381593	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1880A>G; p.N627S; 3:66384182-66384182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1783G>A; p.V595M; 3:66385987-66385987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.307G>A; p.E103K; 3:66451617-66451617	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2676C>T; p.C892C; 3:66381573-66381573	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2788G>A; p.V930I; 3:66380844-66380844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1644C>G; p.V548V; 3:66386126-66386126	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1803C>T; p.F601F; 3:66384259-66384259	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3146G>A; p.R1049H; 3:66380399-66380399	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1001_1002insAG; p.S334fs*39; 3:66407425-66407426	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2072-1G>T; p.?; 3:66383402-66383402	pancreas	carcinoma	Unknown
c.3219G>A; p.T1073T; 3:66380326-66380326	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1949T>C; p.V650A; 3:66384113-66384113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1855G>A; p.E619K; 3:66384207-66384207	skin; abdomen	malignant_melanoma	Substitution - Missense
c.559T>C; p.S187P; 3:66415008-66415008	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.559T>C; p.S187P; 3:66415008-66415008	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2924C>G; p.S975C; 3:66380708-66380708	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1191G>A; p.V397V; 3:66399011-66399011	skin	malignant_melanoma	Substitution - coding silent
c.3055G>A; p.G1019R; 3:66380577-66380577	NS	malignant_melanoma	Substitution - Missense
c.969C>T; p.D323D; 3:66407458-66407458	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1660G>A; p.E554K; 3:66386110-66386110	skin	malignant_melanoma	Substitution - Missense
c.2037T>C; p.G679G; 3:66384025-66384025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.736A>C; p.N246H; 3:66412926-66412926	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.638T>C; p.L213P; 3:66414929-66414929	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.569_570insT; p.L191fs*121; 3:66414997-66414998	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1979C>T; p.T660I; 3:66384083-66384083	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2851C>T; p.P951S; 3:66380781-66380781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.729G>A; p.Q243Q; 3:66412933-66412933	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2152G>A; p.G718R; 3:66383321-66383321	skin	malignant_melanoma	Substitution - Missense
c.2152G>A; p.G718R; 3:66383321-66383321	urinary_tract; bladder	carcinoma	Substitution - Missense
c.797T>C; p.L266P; 3:66410267-66410267	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3190_3191insCCTCCCCA; p.K1064fs*15; 3:66380354-66380355	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Insertion - Frameshift
c.1120A>G; p.T374A; 3:66405238-66405238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1740C>T; p.T580T; 3:66386030-66386030	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1537C>T; p.R513W; 3:66386233-66386233	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1537C>T; p.R513W; 3:66386233-66386233	large_intestine; colon	carcinoma	Substitution - Missense
c.2790A>G; p.V930V; 3:66380842-66380842	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2682G>A; p.Q894Q; 3:66381567-66381567	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1629G>A; p.E543E; 3:66386141-66386141	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2034C>T; p.A678A; 3:66384028-66384028	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2212C>T; p.R738W; 3:66383261-66383261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.563G>T; p.R188L; 3:66415004-66415004	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.358_361delCTCT; p.L120fs*15; 3:66451563-66451566	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.929A>T; p.H310L; 3:66410135-66410135	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2309G>A; p.G770D; 3:66383164-66383164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1935G>A; p.E645E; 3:66384127-66384127	thyroid	carcinoma	Substitution - coding silent
c.1570T>C; p.S524P; 3:66386200-66386200	stomach	adenocarcinoma	Substitution - Missense
c.437T>G; p.L146R; 3:66417195-66417195	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.860A>T; p.Q287L; 3:66410204-66410204	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2952C>T; p.A984A; 3:66380680-66380680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2705C>T; p.A902V; 3:66381544-66381544	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2705C>T; p.A902V; 3:66381544-66381544	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.215G>A; p.S72N; 3:66500193-66500193	ovary	other; neoplasm	Substitution - Missense
c.2163G>A; p.P721P; 3:66383310-66383310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2954C>T; p.A985V; 3:66380678-66380678	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2900C>T; p.P967L; 3:66380732-66380732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1772C>T; p.A591V; 3:66385998-66385998	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.970G>A; p.E324K; 3:66407457-66407457	NS	malignant_melanoma	Substitution - Missense
c.2256C>T; p.N752N; 3:66383217-66383217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1122G>A; p.T374T; 3:66405236-66405236	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2659A>C; p.T887P; 3:66381590-66381590	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2814G>A; p.V938V; 3:66380818-66380818	breast	carcinoma	Substitution - coding silent
c.2604_2614del11; p.H868fs*44; 3:66382276-66382286	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1532A>G; p.D511G; 3:66386238-66386238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.886G>A; p.A296T; 3:66410178-66410178	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.503+6T>G; p.?; 3:66417123-66417123	kidney	other; neoplasm	Unknown
c.886G>A; p.A296T; 3:66410178-66410178	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2453C>G; p.T818S; 3:66383020-66383020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1073G>A; p.R358Q; 3:66407354-66407354	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2048C>A; p.A683D; 3:66384014-66384014	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1974C>T; p.F658F; 3:66384088-66384088	skin	malignant_melanoma	Substitution - coding silent
c.3056-1G>A; p.?; 3:66380490-66380490	skin; upper_leg	malignant_melanoma	Unknown
c.704A>T; p.N235I; 3:66412958-66412958	breast	carcinoma	Substitution - Missense
c.2756G>A; p.G919E; 3:66381493-66381493	skin	malignant_melanoma	Substitution - Missense
c.2354G>A; p.G785D; 3:66383119-66383119	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2154G>A; p.G718G; 3:66383319-66383319	skin	malignant_melanoma	Substitution - coding silent
c.1720C>T; p.R574C; 3:66386050-66386050	pancreas	carcinoma	Substitution - Missense
c.875A>C; p.N292T; 3:66410189-66410189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.657T>C; p.N219N; 3:66413005-66413005	breast	carcinoma	Substitution - coding silent
c.305A>T; p.N102I; 3:66451619-66451619	skin	malignant_melanoma	Substitution - Missense
c.1317C>T; p.S439S; 3:66394191-66394191	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1317C>T; p.S439S; 3:66394191-66394191	breast	carcinoma	Substitution - coding silent
c.619G>A; p.A207T; 3:66414948-66414948	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3232C>T; p.Q1078*; 3:66380313-66380313	lung	carcinoma; large_cell_carcinoma	Substitution - Nonsense
c.2982G>A; p.S994S; 3:66380650-66380650	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2347G>A; p.A783T; 3:66383126-66383126	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1492A>T; p.I498F; 3:66386278-66386278	thyroid	other; neoplasm	Substitution - Missense
c.1026C>T; p.S342S; 3:66407401-66407401	skin	malignant_melanoma	Substitution - coding silent
c.1016G>A; p.S339N; 3:66407411-66407411	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.258T>C; p.A86A; 3:66462470-66462470	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1956G>A; p.P652P; 3:66384106-66384106	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3001G>A; p.D1001N; 3:66380631-66380631	skin	malignant_melanoma	Substitution - Missense
c.2809G>A; p.E937K; 3:66380823-66380823	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2776G>A; p.G926S; 3:66380856-66380856	breast	carcinoma	Substitution - Missense
c.730C>T; p.R244*; 3:66412932-66412932	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.911G>A; p.S304N; 3:66410153-66410153	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1040C>T; p.A347V; 3:66407387-66407387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1655A>G; p.D552G; 3:66386115-66386115	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.580C>T; p.R194C; 3:66414987-66414987	skin	malignant_melanoma	Substitution - Missense

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]