Entrez Gene

Basic Information
Gene ID	5788
Name	PTPRC
Synonymous	protein tyrosine phosphatase, receptor type, C;PTPRC;protein tyrosine phosphatase, receptor type, C
Definition	CD45 antigen\|T200 glycoprotein\|T200 leukocyte common antigen\|protein tyrosine phosphatase, receptor type, c polypeptide\|receptor-type tyrosine-protein phosphatase C
Position	1q31-q32
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 0.11.

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.3766G>A; p.D1256N; 1:198756032-198756032	skin	malignant_melanoma	Substitution - Missense
c.3207C>T; p.I1069I; 1:198752254-198752254	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.470C>A; p.P157H; 1:198702423-198702423	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3207C>T; p.I1069I; 1:198752254-198752254	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3766G>A; p.D1256N; 1:198756032-198756032	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.884T>C; p.L295S; 1:198706938-198706938	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.82C>T; p.P28S; 1:198692361-198692361	skin; trunk	malignant_melanoma	Substitution - Missense
c.652+8T>A; p.?; 1:198703380-198703380	stomach	adenocarcinoma	Unknown
c.3255A>G; p.E1085E; 1:198752302-198752302	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2208G>A; p.R736R; 1:198734362-198734362	skin	malignant_melanoma	Substitution - coding silent
c.1823G>A; p.C608Y; 1:198728448-198728448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3778G>A; p.V1260I; 1:198756044-198756044	liver	carcinoma	Substitution - Missense
c.1669_1670GG>TT; p.G557L; 1:198722431-198722432	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1351A>C; p.T451P; 1:198716747-198716747	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3778G>A; p.V1260I; 1:198756044-198756044	liver	carcinoma	Substitution - Missense
c.3589C>T; p.Q1197*; 1:198754354-198754354	skin	malignant_melanoma	Substitution - Nonsense
c.2838C>T; p.F946F; 1:198744200-198744200	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2685A>T; p.Q895H; 1:198742361-198742361	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1134C>T; p.N378N; 1:198709793-198709793	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2679G>A; p.M893I; 1:198742355-198742355	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.652+2T>C; p.?; 1:198703374-198703374	eye; uveal_tract	malignant_melanoma	Unknown
c.1134C>T; p.N378N; 1:198709793-198709793	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.3520A>G; p.T1174A; 1:198754285-198754285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1086G>C; p.E362D; 1:198709745-198709745	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.479C>A; p.P160Q; 1:198702432-198702432	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3237A>G; p.Q1079Q; 1:198752284-198752284	pancreas	carcinoma	Substitution - coding silent
c.1247C>T; p.S416L; 1:198713034-198713034	skin	malignant_melanoma	Substitution - Missense
c.3851G>A; p.G1284D; 1:198756117-198756117	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1172G>T; p.G391V; 1:198712959-198712959	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1464C>A; p.N488K; 1:198718113-198718113	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.788G>A; p.C263Y; 1:198706842-198706842	breast	carcinoma	Substitution - Missense
c.1681G>T; p.G561*; 1:198722443-198722443	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1088A>G; p.Y363C; 1:198709747-198709747	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2529C>T; p.F843F; 1:198742000-198742000	skin	malignant_melanoma	Substitution - coding silent
c.1743G>A; p.L581L; 1:198728368-198728368	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3327G>A; p.R1109R; 1:198752596-198752596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2816C>G; p.P939R; 1:198744178-198744178	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3639+1G>A; p.?; 1:198754405-198754405	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1337A>T; p.N446I; 1:198716733-198716733	skin	malignant_melanoma	Substitution - Missense
c.2056C>T; p.P686S; 1:198732387-198732387	skin	malignant_melanoma	Substitution - Missense
c.1408A>T; p.S470C; 1:198716804-198716804	skin	malignant_melanoma	Substitution - Missense
c.3536C>T; p.A1179V; 1:198754301-198754301	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3268G>T; p.D1090Y; 1:198752315-198752315	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2053C>T; p.L685F; 1:198732384-198732384	urinary_tract; bladder	carcinoma	Substitution - Missense
c.218C>G; p.S73C; 1:198696835-198696835	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1390A>G; p.K464E; 1:198716786-198716786	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.541C>T; p.R181C; 1:198702494-198702494	central_nervous_system; brain	glioma	Substitution - Missense
c.3576A>G; p.V1192V; 1:198754341-198754341	liver	carcinoma	Substitution - coding silent
c.2569C>G; p.R857G; 1:198742245-198742245	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1976C>T; p.P659L; 1:198732307-198732307	stomach	adenocarcinoma	Substitution - Missense
c.1976C>T; p.P659L; 1:198732307-198732307	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.383C>A; p.S128Y; 1:198699654-198699654	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3424G>A; p.V1142I; 1:198752693-198752693	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1746A>G; p.A582A; 1:198728371-198728371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.334G>A; p.D112N; 1:198699605-198699605	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2252G>A; p.R751Q; 1:198734406-198734406	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2480A>G; p.H827R; 1:198741951-198741951	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.919C>A; p.H307N; 1:198708153-198708153	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2017C>T; p.P673S; 1:198732348-198732348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.837T>G; p.V279V; 1:198706891-198706891	breast	carcinoma	Substitution - coding silent
c.1135G>A; p.A379T; 1:198709794-198709794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1135G>A; p.A379T; 1:198709794-198709794	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3202G>A; p.E1068K; 1:198752249-198752249	skin	malignant_melanoma	Substitution - Missense
c.3202G>A; p.E1068K; 1:198752249-198752249	skin	malignant_melanoma	Substitution - Missense
c.3202G>A; p.E1068K; 1:198752249-198752249	skin	malignant_melanoma	Substitution - Missense
c.598G>A; p.E200K; 1:198703318-198703318	skin	malignant_melanoma	Substitution - Missense
c.598G>A; p.E200K; 1:198703318-198703318	skin	malignant_melanoma	Substitution - Missense
c.1861G>A; p.D621N; 1:198731619-198731619	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.3202G>A; p.E1068K; 1:198752249-198752249	skin	malignant_melanoma	Substitution - Missense
c.2169A>C; p.A723A; 1:198734228-198734228	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2169A>C; p.A723A; 1:198734228-198734228	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2169A>C; p.A723A; 1:198734228-198734228	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1444+1G>T; p.?; 1:198716841-198716841	lung	carcinoma; adenocarcinoma	Unknown
c.3547C>T; p.L1183F; 1:198754312-198754312	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.340C>T; p.Q114*; 1:198699611-198699611	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.132A>G; p.S44S; 1:198696749-198696749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2062G>A; p.D688N; 1:198732482-198732482	skin	malignant_melanoma	Substitution - Missense
c.2062G>A; p.D688N; 1:198732482-198732482	skin	malignant_melanoma	Substitution - Missense
c.3847A>C; p.S1283R; 1:198756113-198756113	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.326C>A; p.T109K; 1:198699597-198699597	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1414G>A; p.A472T; 1:198716810-198716810	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.334G>T; p.D112Y; 1:198699605-198699605	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.402C>T; p.L134L; 1:198699673-198699673	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3706delA; p.N1237fs*17; 1:198755972-198755972	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3006C>A; p.S1002S; 1:198749489-198749489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3512C>A; p.S1171Y; 1:198754277-198754277	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2587G>A; p.G863R; 1:198742263-198742263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3151A>C; p.R1051R; 1:198750576-198750576	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2587G>A; p.G863R; 1:198742263-198742263	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3499T>A; p.C1167S; 1:198752768-198752768	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.839C>T; p.S280F; 1:198706893-198706893	skin	malignant_melanoma	Substitution - Missense
c.1996C>T; p.P666S; 1:198732327-198732327	skin	malignant_melanoma	Substitution - Missense
c.1996C>T; p.P666S; 1:198732327-198732327	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1318_1322delATCAA; p.K441fs*1; 1:198716714-198716718	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.571A>G; p.T191A; 1:198702524-198702524	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.118A>G; p.S40G; 1:198696735-198696735	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.571A>G; p.T191A; 1:198702524-198702524	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.932A>T; p.Q311L; 1:198708166-198708166	prostate	carcinoma	Substitution - Missense
c.201C>A; p.F67L; 1:198696818-198696818	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.201C>A; p.F67L; 1:198696818-198696818	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2094C>T; p.N698N; 1:198732514-198732514	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3868C>A; p.H1290N; 1:198756134-198756134	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>T; p.G127C; 1:198699650-198699650	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>A; p.V21M; 1:198639335-198639335	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3560C>T; p.A1187V; 1:198754325-198754325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3147C>T; p.F1049F; 1:198750572-198750572	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3560C>T; p.A1187V; 1:198754325-198754325	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.477C>A; p.D159E; 1:198702430-198702430	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1739T>A; p.F580Y; 1:198728364-198728364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3447G>T; p.K1149N; 1:198752716-198752716	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3560C>T; p.A1187V; 1:198754325-198754325	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1739T>A; p.F580Y; 1:198728364-198728364	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.67G>A; p.G23R; 1:198639341-198639341	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3639C>T; p.F1213F; 1:198754404-198754404	skin	malignant_melanoma	Substitution - coding silent
c.3073T>A; p.W1025R; 1:198750498-198750498	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1999A>C; p.I667L; 1:198732330-198732330	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.15delT; p.K6fs*16; 1:198639289-198639289	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.633C>T; p.V211V; 1:198703353-198703353	skin	malignant_melanoma	Substitution - coding silent
c.2578A>G; p.T860A; 1:198742254-198742254	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2578A>G; p.T860A; 1:198742254-198742254	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.910T>C; p.F304L; 1:198708144-198708144	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3066_3066+1GG>TT; p.?; 1:198749549-198749550	lung	carcinoma; adenocarcinoma	Unknown
c.3305T>C; p.F1102S; 1:198752352-198752352	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2310C>T; p.G770G; 1:198735165-198735165	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.707A>T; p.D236V; 1:198706761-198706761	skin	malignant_melanoma	Substitution - Missense
c.2310C>T; p.G770G; 1:198735165-198735165	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3799G>A; p.E1267K; 1:198756065-198756065	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3357A>G; p.Q1119Q; 1:198752626-198752626	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2369A>G; p.Y790C; 1:198735224-198735224	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1568G>A; p.G523E; 1:198718217-198718217	skin; acral	malignant_melanoma	Substitution - Missense
c.1793A>C; p.K598T; 1:198728418-198728418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>A; p.R181H; 1:198702495-198702495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.539C>T; p.A180V; 1:198702492-198702492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2855A>G; p.Y952C; 1:198748122-198748122	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1984T>C; p.F662L; 1:198732315-198732315	skin	malignant_melanoma	Substitution - Missense
c.2173+1G>T; p.?; 1:198734233-198734233	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2695C>T; p.Q899*; 1:198744057-198744057	skin	malignant_melanoma	Substitution - Nonsense
c.1820_1821CC>TT; p.S607F; 1:198728445-198728446	skin	malignant_melanoma	Substitution - Missense
c.1915A>G; p.T639A; 1:198731673-198731673	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1039T>A; p.F347I; 1:198709698-198709698	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1536C>T; p.P512P; 1:198718185-198718185	skin	malignant_melanoma	Substitution - coding silent
c.2283A>T; p.A761A; 1:198735138-198735138	liver	carcinoma	Substitution - coding silent
c.2918C>T; p.S973F; 1:198748185-198748185	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.95-1G>A; p.?; 1:198696711-198696711	skin	malignant_melanoma	Unknown
c.3694G>A; p.G1232R; 1:198755960-198755960	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1702C>A; p.H568N; 1:198722464-198722464	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.479C>T; p.P160L; 1:198702432-198702432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.479C>T; p.P160L; 1:198702432-198702432	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3087G>A; p.V1029V; 1:198750512-198750512	skin	malignant_melanoma	Substitution - coding silent
c.517C>T; p.H173Y; 1:198702470-198702470	skin	malignant_melanoma	Substitution - Missense
c.2485C>T; p.L829F; 1:198741956-198741956	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1233T>C; p.N411N; 1:198713020-198713020	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2685A>G; p.Q895Q; 1:198742361-198742361	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2685A>G; p.Q895Q; 1:198742361-198742361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.542G>T; p.R181L; 1:198702495-198702495	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2685A>G; p.Q895Q; 1:198742361-198742361	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1706C>G; p.S569*; 1:198722468-198722468	breast	carcinoma	Substitution - Nonsense
c.1612C>T; p.R538C; 1:198718261-198718261	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.682G>A; p.E228K; 1:198706736-198706736	skin	malignant_melanoma	Substitution - Missense
c.274A>C; p.S92R; 1:198696891-198696891	pancreas	carcinoid-endocrine_tumour; islet_cell	Substitution - Missense
c.1977G>A; p.P659P; 1:198732308-198732308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1977G>A; p.P659P; 1:198732308-198732308	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.372A>G; p.T124T; 1:198699643-198699643	skin	malignant_melanoma	Substitution - coding silent
c.2511T>C; p.N837N; 1:198741982-198741982	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1399C>A; p.R467S; 1:198716795-198716795	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2151C>G; p.P717P; 1:198734210-198734210	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1744G>A; p.A582T; 1:198728369-198728369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2619C>T; p.A873A; 1:198742295-198742295	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1433C>T; p.T478I; 1:198716829-198716829	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2685A>C; p.Q895H; 1:198742361-198742361	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.683A>G; p.E228G; 1:198706737-198706737	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2685A>C; p.Q895H; 1:198742361-198742361	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.683A>G; p.E228G; 1:198706737-198706737	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2685A>C; p.Q895H; 1:198742361-198742361	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.288C>A; p.T96T; 1:198696905-198696905	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3288T>G; p.T1096T; 1:198752335-198752335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.455C>A; p.T152K; 1:198702408-198702408	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1766C>A; p.S589*; 1:198728391-198728391	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2476C>T; p.P826S; 1:198741947-198741947	stomach	adenocarcinoma	Substitution - Missense
c.480A>T; p.P160P; 1:198702433-198702433	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1327G>A; p.D443N; 1:198716723-198716723	skin	malignant_melanoma	Substitution - Missense
c.3705G>T; p.K1235N; 1:198755971-198755971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1327G>A; p.D443N; 1:198716723-198716723	skin	malignant_melanoma	Substitution - Missense
c.2282C>T; p.A761V; 1:198735137-198735137	liver	carcinoma	Substitution - Missense
c.566C>G; p.A189G; 1:198702519-198702519	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2181G>A; p.R727R; 1:198734335-198734335	skin	malignant_melanoma	Substitution - coding silent
c.1427T>C; p.F476S; 1:198716823-198716823	skin; neck	malignant_melanoma	Substitution - Missense
c.831G>A; p.A277A; 1:198706885-198706885	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.829G>A; p.A277T; 1:198706883-198706883	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1966C>T; p.Q656*; 1:198731724-198731724	skin; abdomen	malignant_melanoma	Substitution - Nonsense
c.829G>A; p.A277T; 1:198706883-198706883	liver	carcinoma	Substitution - Missense
c.1745C>T; p.A582V; 1:198728370-198728370	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2397+1G>A; p.?; 1:198735253-198735253	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.2473G>A; p.D825N; 1:198741944-198741944	skin	malignant_melanoma	Substitution - Missense
c.2079A>G; p.E693E; 1:198732499-198732499	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1702C>T; p.H568Y; 1:198722464-198722464	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3115G>T; p.E1039*; 1:198750540-198750540	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.184G>T; p.E62*; 1:198696801-198696801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1417A>T; p.M473L; 1:198716813-198716813	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3771T>G; p.A1257A; 1:198756037-198756037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.252C>T; p.S84S; 1:198696869-198696869	skin	malignant_melanoma	Substitution - coding silent
c.1379A>C; p.Y460S; 1:198716775-198716775	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.950C>T; p.T317I; 1:198708184-198708184	central_nervous_system; brain	glioma	Substitution - Missense
c.628G>A; p.A210T; 1:198703348-198703348	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3338G>A; p.R1113Q; 1:198752607-198752607	skin	malignant_melanoma	Substitution - Missense
c.3338G>A; p.R1113Q; 1:198752607-198752607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1638A>G; p.T546T; 1:198718287-198718287	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3697C>T; p.Q1233*; 1:198755963-198755963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1610T>C; p.F537S; 1:198718259-198718259	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2597C>T; p.A866V; 1:198742273-198742273	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.350C>T; p.S117F; 1:198699621-198699621	skin	malignant_melanoma	Substitution - Missense
c.2569C>T; p.R857C; 1:198742245-198742245	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.501C>A; p.T167T; 1:198702454-198702454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2569C>T; p.R857C; 1:198742245-198742245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.442G>A; p.G148R; 1:198702395-198702395	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.442G>A; p.G148R; 1:198702395-198702395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.442G>A; p.G148R; 1:198702395-198702395	breast	carcinoma	Substitution - Missense
c.311C>G; p.T104R; 1:198699582-198699582	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.817G>T; p.E273*; 1:198706871-198706871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3586T>G; p.F1196V; 1:198754351-198754351	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1088A>T; p.Y363F; 1:198709747-198709747	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1972A>C; p.I658L; 1:198732303-198732303	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2233G>C; p.V745L; 1:198734387-198734387	central_nervous_system; brain	glioma	Substitution - Missense
c.1451G>T; p.S484I; 1:198718100-198718100	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.205G>A; p.E69K; 1:198696822-198696822	skin	malignant_melanoma	Substitution - Missense
c.957T>G; p.I319M; 1:198708191-198708191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.109A>G; p.K37E; 1:198696726-198696726	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1367C>A; p.S456*; 1:198716763-198716763	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2296T>A; p.S766T; 1:198735151-198735151	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2202C>A; p.F734L; 1:198734356-198734356	breast	carcinoma	Substitution - Missense
c.3654C>T; p.F1218F; 1:198755920-198755920	skin	malignant_melanoma	Substitution - coding silent
c.524C>A; p.S175Y; 1:198702477-198702477	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2228C>T; p.A743V; 1:198734382-198734382	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2605G>A; p.E869K; 1:198742281-198742281	skin; trunk	malignant_melanoma	Substitution - Missense
c.3339A>G; p.R1113R; 1:198752608-198752608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.43C>A; p.L15M; 1:198639317-198639317	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.216T>C; p.T72T; 1:198696833-198696833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2270G>T; p.R757M; 1:198734424-198734424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2012G>A; p.R671Q; 1:198732343-198732343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2012G>A; p.R671Q; 1:198732343-198732343	ovary	other; neoplasm	Substitution - Missense
c.2519G>T; p.S840I; 1:198741990-198741990	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2819C>T; p.S940F; 1:198744181-198744181	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1771G>T; p.A591S; 1:198728396-198728396	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2669G>C; p.R890T; 1:198742345-198742345	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2229C>A; p.A743A; 1:198734383-198734383	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1598A>C; p.K533T; 1:198718247-198718247	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1731G>T; p.L577L; 1:198728356-198728356	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.242C>T; p.T81I; 1:198696859-198696859	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1730T>C; p.L577P; 1:198728355-198728355	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2127C>T; p.S709S; 1:198732547-198732547	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.579T>C; p.D193D; 1:198703299-198703299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3159C>T; p.V1053V; 1:198750584-198750584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1730T>C; p.L577P; 1:198728355-198728355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.300A>T; p.S100S; 1:198699571-198699571	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3805C>T; p.L1269F; 1:198756071-198756071	skin	malignant_melanoma	Substitution - Missense
c.2340G>A; p.K780K; 1:198735195-198735195	skin	malignant_melanoma	Substitution - coding silent
c.1544G>A; p.R515H; 1:198718193-198718193	pancreas	carcinoma	Substitution - Missense
c.92C>A; p.T31N; 1:198692371-198692371	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1544G>A; p.R515H; 1:198718193-198718193	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2930C>T; p.P977L; 1:198748197-198748197	skin	malignant_melanoma	Substitution - Missense
c.774T>C; p.C258C; 1:198706828-198706828	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2481C>T; p.H827H; 1:198741952-198741952	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2297C>T; p.S766L; 1:198735152-198735152	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.40_5718>T; p.L15fs*26; 1:198639314-198639331	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Complex - frameshift
c.366G>A; p.T122T; 1:198699637-198699637	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.366G>A; p.T122T; 1:198699637-198699637	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.366G>A; p.T122T; 1:198699637-198699637	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3845C>T; p.T1282M; 1:198756111-198756111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3845C>T; p.T1282M; 1:198756111-198756111	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1070T>G; p.L357R; 1:198709729-198709729	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2611C>A; p.L871M; 1:198742287-198742287	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.724G>A; p.E242K; 1:198706778-198706778	skin	malignant_melanoma	Substitution - Missense
c.343A>T; p.T115S; 1:198699614-198699614	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.203C>T; p.S68L; 1:198696820-198696820	skin	malignant_melanoma	Substitution - Missense
c.724G>A; p.E242K; 1:198706778-198706778	skin	malignant_melanoma	Substitution - Missense
c.1485A>T; p.S495S; 1:198718134-198718134	central_nervous_system; brain	glioma	Substitution - coding silent
c.1593G>A; p.S531S; 1:198718242-198718242	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3462G>A; p.G1154G; 1:198752731-198752731	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3204A>T; p.E1068D; 1:198752251-198752251	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3204A>T; p.E1068D; 1:198752251-198752251	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3462G>A; p.G1154G; 1:198752731-198752731	skin	malignant_melanoma	Substitution - coding silent
c.3204A>T; p.E1068D; 1:198752251-198752251	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1399C>T; p.R467C; 1:198716795-198716795	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3715C>A; p.H1239N; 1:198755981-198755981	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2346C>T; p.N782N; 1:198735201-198735201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3601G>T; p.A1201S; 1:198754366-198754366	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1353G>A; p.T451T; 1:198716749-198716749	skin	malignant_melanoma	Substitution - coding silent
c.1741C>A; p.L581M; 1:198728366-198728366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1353G>A; p.T451T; 1:198716749-198716749	skin	malignant_melanoma	Substitution - coding silent
c.892C>A; p.P298T; 1:198706946-198706946	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.149C>T; p.T50I; 1:198696766-198696766	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1581T>C; p.V527V; 1:198718230-198718230	skin	malignant_melanoma	Substitution - coding silent
c.3400G>A; p.E1134K; 1:198752669-198752669	skin; scalp	malignant_melanoma	Substitution - Missense
c.1864G>A; p.E622K; 1:198731622-198731622	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2293C>T; p.P765S; 1:198735148-198735148	breast	carcinoma	Substitution - Missense
c.1605C>T; p.C535C; 1:198718254-198718254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2087A>G; p.E696G; 1:198732507-198732507	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1605C>T; p.C535C; 1:198718254-198718254	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1111T>C; p.Y371H; 1:198709770-198709770	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2234T>C; p.V745A; 1:198734388-198734388	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1406G>A; p.G469E; 1:198716802-198716802	skin	malignant_melanoma	Substitution - Missense
c.2247C>A; p.V749V; 1:198734401-198734401	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1406G>A; p.G469E; 1:198716802-198716802	skin	malignant_melanoma	Substitution - Missense
c.1406G>A; p.G469E; 1:198716802-198716802	skin	malignant_melanoma	Substitution - Missense
c.2662C>T; p.R888*; 1:198742338-198742338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2662C>T; p.R888*; 1:198742338-198742338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2662C>T; p.R888*; 1:198742338-198742338	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.2320T>C; p.F774L; 1:198735175-198735175	pancreas	carcinoma	Substitution - Missense
c.2145A>T; p.K715N; 1:198734204-198734204	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3547C>A; p.L1183I; 1:198754312-198754312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2662C>T; p.R888*; 1:198742338-198742338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3487C>T; p.L1163L; 1:198752756-198752756	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2683C>T; p.Q895*; 1:198742359-198742359	skin; knee	malignant_melanoma	Substitution - Nonsense
c.2526C>T; p.F842F; 1:198741997-198741997	skin	malignant_melanoma	Substitution - coding silent
c.136G>T; p.D46Y; 1:198696753-198696753	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3471T>C; p.H1157H; 1:198752740-198752740	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3410C>G; p.S1137C; 1:198752679-198752679	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2149C>T; p.P717S; 1:198734208-198734208	skin	malignant_melanoma	Substitution - Missense
c.347_348CC>TT; p.P116L; 1:198699618-198699619	skin	malignant_melanoma	Substitution - Missense
c.683A>C; p.E228A; 1:198706737-198706737	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.683A>C; p.E228A; 1:198706737-198706737	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1173A>T; p.G391G; 1:198712960-198712960	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1352C>T; p.T451M; 1:198716748-198716748	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3531T>G; p.F1177L; 1:198754296-198754296	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2345A>G; p.N782S; 1:198735200-198735200	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1264C>T; p.L422F; 1:198713051-198713051	skin	malignant_melanoma	Substitution - Missense
c.1264C>T; p.L422F; 1:198713051-198713051	skin	malignant_melanoma	Substitution - Missense
c.1264C>T; p.L422F; 1:198713051-198713051	skin	malignant_melanoma	Substitution - Missense
c.3186delG; p.K1063fs*26; 1:198750611-198750611	liver	carcinoma	Deletion - Frameshift
c.1244G>A; p.R415K; 1:198713031-198713031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.971A>C; p.K324T; 1:198708205-198708205	breast	carcinoma	Substitution - Missense
c.1650T>C; p.F550F; 1:198718299-198718299	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1244G>A; p.R415K; 1:198713031-198713031	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2437C>T; p.Q813*; 1:198741908-198741908	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1695T>A; p.I565I; 1:198722457-198722457	skin	malignant_melanoma	Substitution - coding silent
c.969G>A; p.W323*; 1:198708203-198708203	skin	malignant_melanoma	Substitution - Nonsense
c.2631G>A; p.V877V; 1:198742307-198742307	skin	malignant_melanoma	Substitution - coding silent
c.2586C>A; p.I862I; 1:198742262-198742262	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1964T>G; p.F655C; 1:198731722-198731722	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.823A>T; p.K275*; 1:198706877-198706877	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1639G>T; p.D547Y; 1:198718288-198718288	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1606G>A; p.D536N; 1:198718255-198718255	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.830C>T; p.A277V; 1:198706884-198706884	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3299G>T; p.R1100L; 1:198752346-198752346	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.265G>C; p.D89H; 1:198696882-198696882	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.517C>A; p.H173N; 1:198702470-198702470	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2185G>T; p.E729*; 1:198734339-198734339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3286A>T; p.T1096S; 1:198752333-198752333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.546C>T; p.T182T; 1:198702499-198702499	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1234C>A; p.P412T; 1:198713021-198713021	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1688C>T; p.P563L; 1:198722450-198722450	skin; lower_leg	malignant_melanoma	Substitution - Missense
c.3452C>T; p.S1151F; 1:198752721-198752721	skin	malignant_melanoma	Substitution - Missense
c.2062G>T; p.D688Y; 1:198732482-198732482	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1078G>A; p.E360K; 1:198709737-198709737	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1480A>T; p.T494S; 1:198718129-198718129	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3438_3439insC; p.Q1148fs*6; 1:198752707-198752708	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2689G>A; p.E897K; 1:198742365-198742365	breast	carcinoma	Substitution - Missense
c.623G>A; p.G208E; 1:198703343-198703343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.302C>T; p.S101L; 1:198699573-198699573	breast	carcinoma	Substitution - Missense
c.623G>A; p.G208E; 1:198703343-198703343	skin	malignant_melanoma	Substitution - Missense
c.623G>A; p.G208E; 1:198703343-198703343	skin	malignant_melanoma	Substitution - Missense
c.2680G>A; p.V894I; 1:198742356-198742356	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.215C>G; p.T72S; 1:198696832-198696832	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3267A>C; p.K1089N; 1:198752314-198752314	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.419G>A; p.S140N; 1:198699690-198699690	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3794C>T; p.A1265V; 1:198756060-198756060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2106G>A; p.G702G; 1:198732526-198732526	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.404A>G; p.N135S; 1:198699675-198699675	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1715-1G>C; p.?; 1:198728339-198728339	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Unknown
c.3422T>C; p.V1141A; 1:198752691-198752691	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2632G>A; p.D878N; 1:198742308-198742308	skin	malignant_melanoma	Substitution - Missense
c.2357G>A; p.R786K; 1:198735212-198735212	skin	malignant_melanoma	Substitution - Missense
c.1051G>A; p.E351K; 1:198709710-198709710	skin	malignant_melanoma	Substitution - Missense
c.1405G>A; p.G469R; 1:198716801-198716801	skin	malignant_melanoma	Substitution - Missense
c.285_286TA>AT; p.N95_T96>KS; 1:198696902-198696903	skin; head_neck	carcinoma; squamous_cell_carcinoma	Complex - compound substitution
c.2357G>A; p.R786K; 1:198735212-198735212	skin	malignant_melanoma	Substitution - Missense
c.1400G>A; p.R467H; 1:198716796-198716796	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.440C>T; p.P147L; 1:198702393-198702393	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1791C>T; p.Y597Y; 1:198728416-198728416	breast	carcinoma	Substitution - coding silent
c.2396A>G; p.N799S; 1:198735251-198735251	skin	malignant_melanoma	Substitution - Missense
c.1324T>A; p.Y442N; 1:198716720-198716720	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.55G>T; p.V19L; 1:198639329-198639329	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1063G>C; p.E355Q; 1:198709722-198709722	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1877T>C; p.M626T; 1:198731635-198731635	large_intestine; colon	NS	Substitution - Missense
c.1524C>A; p.D508E; 1:198718173-198718173	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.859A>G; p.T287A; 1:198706913-198706913	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.103A>G; p.T35A; 1:198696720-198696720	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.724G>T; p.E242*; 1:198706778-198706778	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.385G>A; p.A129T; 1:198699656-198699656	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2692-1G>T; p.?; 1:198744053-198744053	urinary_tract; bladder	carcinoma	Unknown
c.2404G>T; p.E802*; 1:198741875-198741875	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3670G>T; p.A1224S; 1:198755936-198755936	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1048A>G; p.K350E; 1:198709707-198709707	liver	carcinoma	Substitution - Missense
c.2707A>C; p.I903L; 1:198744069-198744069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2598C>A; p.A866A; 1:198742274-198742274	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3698A>G; p.Q1233R; 1:198755964-198755964	liver	carcinoma	Substitution - Missense
c.848A>G; p.H283R; 1:198706902-198706902	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3698A>G; p.Q1233R; 1:198755964-198755964	liver	carcinoma	Substitution - Missense
c.330C>G; p.H110Q; 1:198699601-198699601	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1155A>C; p.T385T; 1:198709814-198709814	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3911C>T; p.S1304L; 1:198756177-198756177	skin	malignant_melanoma	Substitution - Missense
c.1922A>T; p.K641M; 1:198731680-198731680	liver	carcinoma	Substitution - Missense
c.683delA; p.K229fs*22; 1:198706737-198706737	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1922A>T; p.K641M; 1:198731680-198731680	liver	carcinoma	Substitution - Missense
c.3562G>A; p.E1188K; 1:198754327-198754327	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.192A>T; p.E64D; 1:198696809-198696809	skin	malignant_melanoma	Substitution - Missense
c.3215A>C; p.Q1072P; 1:198752262-198752262	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2570G>T; p.R857L; 1:198742246-198742246	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.210C>A; p.T70T; 1:198696827-198696827	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2215T>C; p.W739R; 1:198734369-198734369	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.218C>A; p.S73Y; 1:198696835-198696835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3051T>C; p.N1017N; 1:198749534-198749534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3665T>C; p.V1222A; 1:198755931-198755931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1035G>A; p.M345I; 1:198709694-198709694	skin	malignant_melanoma	Substitution - Missense
c.1772C>T; p.A591V; 1:198728397-198728397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3449A>G; p.N1150S; 1:198752718-198752718	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2269A>T; p.R757W; 1:198734423-198734423	breast	carcinoma	Substitution - Missense
c.1979G>A; p.R660Q; 1:198732310-198732310	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.253C>A; p.P85T; 1:198696870-198696870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2295G>A; p.P765P; 1:198735150-198735150	liver	carcinoma	Substitution - coding silent
c.3457G>T; p.E1153*; 1:198752726-198752726	breast	carcinoma	Substitution - Nonsense
c.2295G>A; p.P765P; 1:198735150-198735150	liver	carcinoma	Substitution - coding silent
c.2439G>A; p.Q813Q; 1:198741910-198741910	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.992G>C; p.C331S; 1:198708226-198708226	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3793G>A; p.A1265T; 1:198756059-198756059	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.989C>A; p.T330N; 1:198708223-198708223	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.91A>G; p.T31A; 1:198692370-198692370	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2251C>A; p.R751R; 1:198734405-198734405	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.140C>T; p.P47L; 1:198696757-198696757	skin	malignant_melanoma	Substitution - Missense
c.2038C>T; p.R680C; 1:198732369-198732369	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3018C>T; p.D1006D; 1:198749501-198749501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.358A>T; p.T120S; 1:198699629-198699629	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2830G>A; p.A944T; 1:198744192-198744192	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.674C>G; p.T225R; 1:198704493-198704493	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.313C>A; p.P105T; 1:198699584-198699584	lung	carcinoma; adenocarcinoma	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]