Entrez Gene

Basic Information
Gene ID	1832
Name	DSP
Synonymous	desmoplakin;DSP;desmoplakin
Definition	250/210 kDa paraneoplastic pemphigus antigen\|desmoplakin I\|desmoplakin II
Position	6p24
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 0.12.

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.3147G>A; p.S1049S; 6:7579337-7579337	large_intestine; colon	NS	Substitution - coding silent
c.4118C>A; p.T1373N; 6:7580308-7580308	skin	malignant_melanoma	Substitution - Missense
c.5127C>T; p.L1709L; 6:7581317-7581317	skin	malignant_melanoma	Substitution - coding silent
c.6958C>A; p.L2320M; 6:7584220-7584220	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7764A>G; p.E2588E; 6:7585026-7585026	liver	carcinoma	Substitution - coding silent
c.1984G>T; p.D662Y; 6:7571922-7571922	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4996C>T; p.R1666W; 6:7581186-7581186	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7275C>A; p.T2425T; 6:7584537-7584537	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7764A>G; p.E2588E; 6:7585026-7585026	liver	carcinoma	Substitution - coding silent
c.4954G>A; p.E1652K; 6:7581144-7581144	skin	malignant_melanoma	Substitution - Missense
c.5606_5616del11; p.Y1871fs*5; 6:7582868-7582878	breast	carcinoma	Deletion - Frameshift
c.4954G>A; p.E1652K; 6:7581144-7581144	skin	malignant_melanoma	Substitution - Missense
c.1285C>T; p.L429F; 6:7568455-7568455	skin; neck	malignant_melanoma	Substitution - Missense
c.6459G>A; p.L2153L; 6:7583721-7583721	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6820A>G; p.I2274V; 6:7584082-7584082	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7994C>T; p.T2665M; 6:7585256-7585256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6055G>A; p.A2019T; 6:7583317-7583317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2580C>T; p.V860V; 6:7575438-7575438	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3316G>T; p.E1106*; 6:7579506-7579506	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.449G>A; p.R150Q; 6:7559252-7559252	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1895A>C; p.H632P; 6:7571576-7571576	breast	carcinoma	Substitution - Missense
c.484C>T; p.R162C; 6:7559287-7559287	lung	carcinoma; mucoepidermoid_carcinoma	Substitution - Missense
c.4490G>A; p.R1497Q; 6:7580680-7580680	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4440C>T; p.N1480N; 6:7580630-7580630	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5068G>A; p.E1690K; 6:7581258-7581258	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4932G>A; p.L1644L; 6:7581122-7581122	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4108A>T; p.I1370F; 6:7580298-7580298	central_nervous_system; brain	glioma	Substitution - Missense
c.8178C>T; p.F2726F; 6:7585440-7585440	skin	malignant_melanoma	Substitution - coding silent
c.5970C>T; p.T1990T; 6:7583232-7583232	skin	malignant_melanoma	Substitution - coding silent
c.3165C>G; p.N1055K; 6:7579355-7579355	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5664_5665insGA; p.K1892fs*38; 6:7582926-7582927	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1770C>T; p.F590F; 6:7571451-7571451	skin	malignant_melanoma	Substitution - coding silent
c.1765G>A; p.E589K; 6:7571446-7571446	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.8076G>A; p.Q2692Q; 6:7585338-7585338	skin	malignant_melanoma	Substitution - coding silent
c.1770C>T; p.F590F; 6:7571451-7571451	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2667G>A; p.R889R; 6:7576330-7576330	skin	malignant_melanoma	Substitution - coding silent
c.2774G>A; p.R925Q; 6:7576437-7576437	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Substitution - Missense
c.6661G>C; p.E2221Q; 6:7583923-7583923	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2483T>C; p.M828T; 6:7575341-7575341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3005G>A; p.R1002Q; 6:7578483-7578483	skin	malignant_melanoma	Substitution - Missense
c.684C>T; p.I228I; 6:7562738-7562738	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3650C>T; p.T1217M; 6:7579840-7579840	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5064_5065GA>CT; p.I1689L; 6:7581254-7581255	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1067C>T; p.T356M; 6:7567376-7567376	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5593A>T; p.N1865Y; 6:7582855-7582855	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1464C>T; p.N488N; 6:7569230-7569230	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1464C>T; p.N488N; 6:7569230-7569230	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.6442G>A; p.A2148T; 6:7583704-7583704	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3222G>A; p.A1074A; 6:7579412-7579412	NS	malignant_melanoma	Substitution - coding silent
c.3222G>A; p.A1074A; 6:7579412-7579412	NS	malignant_melanoma	Substitution - coding silent
c.3222G>A; p.A1074A; 6:7579412-7579412	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.423-2A>G; p.?; 6:7559224-7559224	ovary	carcinoma; serous_carcinoma	Unknown
c.6442G>A; p.A2148T; 6:7583704-7583704	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2369G>A; p.R790K; 6:7574728-7574728	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4516A>G; p.R1506G; 6:7580706-7580706	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7602T>C; p.I2534I; 6:7584864-7584864	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.7122C>T; p.T2374T; 6:7584384-7584384	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2835G>T; p.E945D; 6:7577000-7577000	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6396G>A; p.G2132G; 6:7583658-7583658	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.7122C>T; p.T2374T; 6:7584384-7584384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.913A>T; p.I305F; 6:7565494-7565494	skin	malignant_melanoma	Substitution - Missense
c.2756A>T; p.D919V; 6:7576419-7576419	breast	carcinoma	Substitution - Missense
c.5322G>T; p.Q1774H; 6:7581512-7581512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1273C>T; p.R425*; 6:7568443-7568443	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1196T>C; p.I399T; 6:7567836-7567836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3163A>T; p.N1055Y; 6:7579353-7579353	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5828G>A; p.R1943K; 6:7583090-7583090	skin	malignant_melanoma	Substitution - Missense
c.2878G>T; p.D960Y; 6:7577779-7577779	breast	carcinoma	Substitution - Missense
c.3590A>C; p.N1197T; 6:7579780-7579780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8554G>A; p.A2852T; 6:7585816-7585816	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7649G>A; p.G2550D; 6:7584911-7584911	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1517C>T; p.P506L; 6:7569283-7569283	skin	malignant_melanoma	Substitution - Missense
c.4019G>A; p.R1340H; 6:7580209-7580209	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5477A>T; p.K1826M; 6:7582739-7582739	skin	malignant_melanoma	Substitution - Missense
c.5859C>A; p.T1953T; 6:7583121-7583121	central_nervous_system; brain	glioma	Substitution - coding silent
c.467T>C; p.I156T; 6:7559270-7559270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7426G>T; p.E2476*; 6:7584688-7584688	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.6122G>A; p.S2041N; 6:7583384-7583384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7123G>T; p.G2375W; 6:7584385-7584385	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5601G>A; p.W1867*; 6:7582863-7582863	skin	malignant_melanoma	Substitution - Nonsense
c.1351C>T; p.R451C; 6:7568521-7568521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2912G>A; p.G971E; 6:7577813-7577813	skin	malignant_melanoma	Substitution - Missense
c.1351C>T; p.R451C; 6:7568521-7568521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4914C>T; p.D1638D; 6:7581104-7581104	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1116G>A; p.L372L; 6:7567425-7567425	breast	carcinoma	Substitution - coding silent
c.559_577del19; p.V187fs*3; 6:7559362-7559380	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.6340A>C; p.N2114H; 6:7583602-7583602	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6851G>A; p.R2284Q; 6:7584113-7584113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4535A>G; p.Y1512C; 6:7580725-7580725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7399G>A; p.V2467I; 6:7584661-7584661	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.6851G>A; p.R2284Q; 6:7584113-7584113	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6851G>A; p.R2284Q; 6:7584113-7584113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3368G>T; p.R1123I; 6:7579558-7579558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1645T>A; p.S549T; 6:7570507-7570507	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7041C>T; p.I2347I; 6:7584303-7584303	skin	malignant_melanoma	Substitution - coding silent
c.7995G>A; p.T2665T; 6:7585257-7585257	skin	malignant_melanoma	Substitution - coding silent
c.7802A>C; p.N2601T; 6:7585064-7585064	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7089C>T; p.H2363H; 6:7584351-7584351	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3509A>G; p.E1170G; 6:7579699-7579699	liver	carcinoma	Substitution - Missense
c.4282G>A; p.E1428K; 6:7580472-7580472	skin	malignant_melanoma	Substitution - Missense
c.6535A>C; p.K2179Q; 6:7583797-7583797	skin	malignant_melanoma	Substitution - Missense
c.7707C>T; p.T2569T; 6:7584969-7584969	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5774A>G; p.Q1925R; 6:7583036-7583036	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8223G>A; p.V2741V; 6:7585485-7585485	liver	carcinoma	Substitution - coding silent
c.4415C>T; p.A1472V; 6:7580605-7580605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1579G>A; p.E527K; 6:7570441-7570441	breast	carcinoma	Substitution - Missense
c.1579G>A; p.E527K; 6:7570441-7570441	breast	carcinoma	Substitution - Missense
c.5820T>C; p.D1940D; 6:7583082-7583082	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2079A>T; p.L693L; 6:7572017-7572017	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7295G>T; p.R2432I; 6:7584557-7584557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7734C>T; p.S2578S; 6:7584996-7584996	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6775T>A; p.C2259S; 6:7584037-7584037	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.849C>T; p.I283I; 6:7565430-7565430	skin	malignant_melanoma	Substitution - coding silent
c.3997G>A; p.E1333K; 6:7580187-7580187	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3289C>G; p.L1097V; 6:7579479-7579479	breast	carcinoma	Substitution - Missense
c.2568C>T; p.F856F; 6:7575426-7575426	skin	malignant_melanoma	Substitution - coding silent
c.5922G>T; p.K1974N; 6:7583184-7583184	skin	malignant_melanoma	Substitution - Missense
c.897C>T; p.S299S; 6:7565478-7565478	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5061G>A; p.K1687K; 6:7581251-7581251	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7241G>A; p.G2414E; 6:7584503-7584503	skin	malignant_melanoma	Substitution - Missense
c.3688G>A; p.D1230N; 6:7579878-7579878	skin	malignant_melanoma	Substitution - Missense
c.897C>T; p.S299S; 6:7565478-7565478	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3688G>A; p.D1230N; 6:7579878-7579878	skin; trunk	malignant_melanoma	Substitution - Missense
c.6373C>T; p.L2125L; 6:7583635-7583635	breast	carcinoma	Substitution - coding silent
c.7790C>T; p.S2597F; 6:7585052-7585052	skin	malignant_melanoma	Substitution - Missense
c.7790C>T; p.S2597F; 6:7585052-7585052	skin	malignant_melanoma	Substitution - Missense
c.7000C>T; p.R2334*; 6:7584262-7584262	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7848G>A; p.S2616S; 6:7585110-7585110	skin	malignant_melanoma	Substitution - coding silent
c.1764A>G; p.Q588Q; 6:7571445-7571445	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1026A>G; p.P342P; 6:7566463-7566463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3162G>A; p.K1054K; 6:7579352-7579352	skin	malignant_melanoma	Substitution - coding silent
c.4105G>A; p.E1369K; 6:7580295-7580295	skin	malignant_melanoma	Substitution - Missense
c.3103G>A; p.E1035K; 6:7579293-7579293	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5932A>G; p.M1978V; 6:7583194-7583194	liver	carcinoma	Substitution - Missense
c.6367C>T; p.R2123C; 6:7583629-7583629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3735A>G; p.E1245E; 6:7579925-7579925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5932A>G; p.M1978V; 6:7583194-7583194	liver	carcinoma	Substitution - Missense
c.3103G>A; p.E1035K; 6:7579293-7579293	skin	malignant_melanoma	Substitution - Missense
c.4373G>A; p.R1458Q; 6:7580563-7580563	skin	malignant_melanoma	Substitution - Missense
c.4608A>G; p.T1536T; 6:7580798-7580798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6112A>G; p.K2038E; 6:7583374-7583374	skin	malignant_melanoma	Substitution - Missense
c.7559_7562delTAGA; p.D2521fs*39; 6:7584821-7584824	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.3857A>T; p.Q1286L; 6:7580047-7580047	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4373G>A; p.R1458Q; 6:7580563-7580563	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4373G>A; p.R1458Q; 6:7580563-7580563	skin	malignant_melanoma	Substitution - Missense
c.4373G>A; p.R1458Q; 6:7580563-7580563	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.8321T>C; p.L2774P; 6:7585583-7585583	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2346C>T; p.D782D; 6:7574705-7574705	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.6039G>A; p.R2013R; 6:7583301-7583301	skin	malignant_melanoma	Substitution - coding silent
c.4147C>A; p.Q1383K; 6:7580337-7580337	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3565G>A; p.E1189K; 6:7579755-7579755	skin	malignant_melanoma	Substitution - Missense
c.4608A>G; p.T1536T; 6:7580798-7580798	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6836A>C; p.K2279T; 6:7584098-7584098	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4653G>A; p.V1551V; 6:7580843-7580843	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.7105G>A; p.E2369K; 6:7584367-7584367	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7171G>T; p.A2391S; 6:7584433-7584433	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.406G>A; p.D136N; 6:7558248-7558248	skin	malignant_melanoma	Substitution - Missense
c.5016G>A; p.Q1672Q; 6:7581206-7581206	skin	malignant_melanoma	Substitution - coding silent
c.250C>A; p.R84R; 6:7555797-7555797	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5974G>T; p.D1992Y; 6:7583236-7583236	liver	carcinoma	Substitution - Missense
c.5974G>T; p.D1992Y; 6:7583236-7583236	liver	carcinoma	Substitution - Missense
c.2559G>A; p.L853L; 6:7575417-7575417	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.6688C>T; p.P2230S; 6:7583950-7583950	skin	malignant_melanoma	Substitution - Missense
c.6318T>A; p.S2106S; 6:7583580-7583580	liver	carcinoma	Substitution - coding silent
c.8230A>T; p.R2744W; 6:7585492-7585492	breast	carcinoma	Substitution - Missense
c.6532A>G; p.K2178E; 6:7583794-7583794	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1493C>T; p.P498L; 6:7569259-7569259	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.868G>A; p.E290K; 6:7565449-7565449	skin	malignant_melanoma	Substitution - Missense
c.1568C>T; p.S523F; 6:7569334-7569334	skin	malignant_melanoma	Substitution - Missense
c.6097G>A; p.E2033K; 6:7583359-7583359	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7367C>T; p.S2456L; 6:7584629-7584629	skin	malignant_melanoma	Substitution - Missense
c.7483G>T; p.E2495*; 6:7584745-7584745	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2675G>A; p.R892H; 6:7576338-7576338	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.915C>T; p.I305I; 6:7565496-7565496	skin	malignant_melanoma	Substitution - coding silent
c.1501G>A; p.V501I; 6:7569267-7569267	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.915C>T; p.I305I; 6:7565496-7565496	skin	malignant_melanoma	Substitution - coding silent
c.1180G>A; p.G394R; 6:7567820-7567820	skin	malignant_melanoma	Substitution - Missense
c.2703G>A; p.W901*; 6:7576366-7576366	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.788T>G; p.F263C; 6:7565369-7565369	skin	malignant_melanoma	Substitution - Missense
c.2703G>A; p.W901*; 6:7576366-7576366	large_intestine; colon	carcinoma	Substitution - Nonsense
c.2703G>A; p.W901*; 6:7576366-7576366	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4678C>T; p.Q1560*; 6:7580868-7580868	skin	malignant_melanoma	Substitution - Nonsense
c.6868G>A; p.E2290K; 6:7584130-7584130	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2334C>A; p.L778L; 6:7574693-7574693	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.8319C>G; p.I2773M; 6:7585581-7585581	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3134G>A; p.R1045Q; 6:7579324-7579324	skin	malignant_melanoma	Substitution - Missense
c.5950C>G; p.Q1984E; 6:7583212-7583212	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2727G>T; p.Q909H; 6:7576390-7576390	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1834T>C; p.F612L; 6:7571515-7571515	skin	malignant_melanoma	Substitution - Missense
c.5666A>T; p.E1889V; 6:7582928-7582928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5212C>T; p.R1738*; 6:7581402-7581402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.648G>A; p.Q216Q; 6:7562702-7562702	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7870G>A; p.D2624N; 6:7585132-7585132	skin	malignant_melanoma	Substitution - Missense
c.3874_3878delGAGAT; p.E1292fs*11; 6:7580064-7580068	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.3874_3878delGAGAT; p.E1292fs*11; 6:7580064-7580068	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.5596C>T; p.Q1866*; 6:7582858-7582858	skin	malignant_melanoma	Substitution - Nonsense
c.1590C>T; p.Y530Y; 6:7570452-7570452	stomach	adenocarcinoma	Substitution - coding silent
c.5596C>T; p.Q1866*; 6:7582858-7582858	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5379+2T>A; p.?; 6:7581571-7581571	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.3093T>A; p.N1031K; 6:7579283-7579283	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6987C>G; p.L2329L; 6:7584249-7584249	breast	carcinoma	Substitution - coding silent
c.7458C>A; p.G2486G; 6:7584720-7584720	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.8242G>A; p.E2748K; 6:7585504-7585504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1765G>T; p.E589*; 6:7571446-7571446	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5990G>T; p.G1997V; 6:7583252-7583252	breast	carcinoma	Substitution - Missense
c.8242G>A; p.E2748K; 6:7585504-7585504	breast	carcinoma	Substitution - Missense
c.7923C>T; p.I2641I; 6:7585185-7585185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5167G>C; p.E1723Q; 6:7581357-7581357	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3464G>T; p.W1155L; 6:7579654-7579654	skin	malignant_melanoma	Substitution - Missense
c.6059G>A; p.G2020E; 6:7583321-7583321	skin	malignant_melanoma	Substitution - Missense
c.2773C>T; p.R925W; 6:7576436-7576436	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2773C>T; p.R925W; 6:7576436-7576436	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5264A>T; p.Q1755L; 6:7581454-7581454	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3964G>A; p.D1322N; 6:7580154-7580154	skin	malignant_melanoma	Substitution - Missense
c.2380G>T; p.E794*; 6:7574739-7574739	skin; neck	malignant_melanoma	Substitution - Nonsense
c.1528C>A; p.L510M; 6:7569294-7569294	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1284C>T; p.I428I; 6:7568454-7568454	skin	malignant_melanoma	Substitution - coding silent
c.2185A>G; p.M729V; 6:7574140-7574140	liver	carcinoma	Substitution - Missense
c.5826C>A; p.L1942L; 6:7583088-7583088	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2185A>G; p.M729V; 6:7574140-7574140	liver	carcinoma	Substitution - Missense
c.5720A>T; p.K1907M; 6:7582982-7582982	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3905G>A; p.R1302H; 6:7580095-7580095	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6349G>T; p.D2117Y; 6:7583611-7583611	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5363A>G; p.Q1788R; 6:7581553-7581553	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3905G>A; p.R1302H; 6:7580095-7580095	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.477T>C; p.P159P; 6:7559280-7559280	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.8225A>T; p.H2742L; 6:7585487-7585487	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3057G>T; p.E1019D; 6:7578535-7578535	skin	malignant_melanoma	Substitution - Missense
c.944G>A; p.R315H; 6:7566381-7566381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.889G>A; p.D297N; 6:7565470-7565470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.889G>A; p.D297N; 6:7565470-7565470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5554C>T; p.R1852C; 6:7582816-7582816	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.862G>T; p.D288Y; 6:7565443-7565443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5554C>T; p.R1852C; 6:7582816-7582816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3646A>G; p.I1216V; 6:7579836-7579836	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.8496A>T; p.G2832G; 6:7585758-7585758	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5420A>T; p.Q1807L; 6:7582682-7582682	ovary	other; neoplasm	Substitution - Missense
c.4610G>A; p.R1537H; 6:7580800-7580800	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7896C>T; p.S2632S; 6:7585158-7585158	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8266A>G; p.I2756V; 6:7585528-7585528	thyroid	carcinoma	Substitution - Missense
c.6635G>A; p.G2212E; 6:7583897-7583897	skin	malignant_melanoma	Substitution - Missense
c.6635G>A; p.G2212E; 6:7583897-7583897	skin	malignant_melanoma	Substitution - Missense
c.4707G>A; p.Q1569Q; 6:7580897-7580897	skin	malignant_melanoma	Substitution - coding silent
c.6635G>A; p.G2212E; 6:7583897-7583897	skin	malignant_melanoma	Substitution - Missense
c.5402C>G; p.S1801*; 6:7582664-7582664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4078A>T; p.I1360F; 6:7580268-7580268	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.8505C>G; p.S2835S; 6:7585767-7585767	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1816C>T; p.R606W; 6:7571497-7571497	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4606A>T; p.T1536S; 6:7580796-7580796	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2010G>A; p.M670I; 6:7571948-7571948	skin	malignant_melanoma	Substitution - Missense
c.1778A>G; p.N593S; 6:7571459-7571459	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2169C>G; p.L723L; 6:7574124-7574124	oesophagus	carcinoma	Substitution - coding silent
c.3336C>T; p.T1112T; 6:7579526-7579526	skin	malignant_melanoma	Substitution - coding silent
c.2064C>T; p.L688L; 6:7572002-7572002	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1778A>G; p.N593S; 6:7571459-7571459	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3797A>T; p.Q1266L; 6:7579987-7579987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1518C>T; p.P506P; 6:7569284-7569284	skin	malignant_melanoma	Substitution - coding silent
c.8363C>T; p.A2788V; 6:7585625-7585625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3922C>T; p.R1308W; 6:7580112-7580112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3691G>A; p.D1231N; 6:7579881-7579881	skin; extremity	malignant_melanoma	Substitution - Missense
c.3922C>T; p.R1308W; 6:7580112-7580112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3584T>C; p.V1195A; 6:7579774-7579774	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7169T>C; p.I2390T; 6:7584431-7584431	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4829T>C; p.I1610T; 6:7581019-7581019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4829T>C; p.I1610T; 6:7581019-7581019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7169T>C; p.I2390T; 6:7584431-7584431	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4829T>C; p.I1610T; 6:7581019-7581019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7306G>T; p.D2436Y; 6:7584568-7584568	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1696G>T; p.A566S; 6:7570558-7570558	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8341delT; p.L2781fs*1; 6:7585603-7585603	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2049G>A; p.E683E; 6:7571987-7571987	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5794C>T; p.R1932C; 6:7583056-7583056	breast	carcinoma	Substitution - Missense
c.6483C>T; p.S2161S; 6:7583745-7583745	skin	malignant_melanoma	Substitution - coding silent
c.7242A>T; p.G2414G; 6:7584504-7584504	oesophagus	carcinoma	Substitution - coding silent
c.5362C>T; p.Q1788*; 6:7581552-7581552	skin; leg	malignant_melanoma	Substitution - Nonsense
c.6567G>A; p.R2189R; 6:7583829-7583829	skin	malignant_melanoma	Substitution - coding silent
c.2055G>T; p.R685S; 6:7571993-7571993	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.178G>A; p.G60S; 6:7555725-7555725	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.693T>A; p.Y231*; 6:7562747-7562747	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.2130+9C>G; p.?; 6:7572077-7572077	kidney	other; neoplasm	Unknown
c.5555G>A; p.R1852H; 6:7582817-7582817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7887G>A; p.E2629E; 6:7585149-7585149	skin	malignant_melanoma	Substitution - coding silent
c.2862C>T; p.C954C; 6:7577027-7577027	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4830C>T; p.I1610I; 6:7581020-7581020	skin	malignant_melanoma	Substitution - coding silent
c.7219G>T; p.D2407Y; 6:7584481-7584481	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.7264G>A; p.E2422K; 6:7584526-7584526	skin	malignant_melanoma	Substitution - Missense
c.7674T>A; p.A2558A; 6:7584936-7584936	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.7219G>T; p.D2407Y; 6:7584481-7584481	pancreas	carcinoma	Substitution - Missense
c.7426G>A; p.E2476K; 6:7584688-7584688	skin	malignant_melanoma	Substitution - Missense
c.1487C>T; p.T496M; 6:7569253-7569253	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6314T>G; p.V2105G; 6:7583576-7583576	liver	carcinoma	Substitution - Missense
c.6087C>T; p.Y2029Y; 6:7583349-7583349	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1487C>T; p.T496M; 6:7569253-7569253	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.8358G>A; p.K2786K; 6:7585620-7585620	skin	malignant_melanoma	Substitution - coding silent
c.1693A>G; p.I565V; 6:7570555-7570555	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4329G>A; p.R1443R; 6:7580519-7580519	skin	malignant_melanoma	Substitution - coding silent
c.4025G>A; p.W1342*; 6:7580215-7580215	skin	malignant_melanoma	Substitution - Nonsense
c.6566G>A; p.R2189Q; 6:7583828-7583828	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1068G>A; p.T356T; 6:7567377-7567377	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2967T>C; p.S989S; 6:7577868-7577868	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1775G>A; p.R592K; 6:7571456-7571456	central_nervous_system; brain	glioma	Substitution - Missense
c.6849_6850CC>TT; p.R2284*; 6:7584111-7584112	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1276G>A; p.E426K; 6:7568446-7568446	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6833T>C; p.M2278T; 6:7584095-7584095	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.7756C>T; p.R2586*; 6:7585018-7585018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7048T>G; p.L2350V; 6:7584310-7584310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2106C>A; p.I702I; 6:7572044-7572044	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3935C>T; p.S1312F; 6:7580125-7580125	skin	malignant_melanoma	Substitution - Missense
c.3508G>A; p.E1170K; 6:7579698-7579698	skin; abdomen	malignant_melanoma	Substitution - Missense
c.2106C>A; p.I702I; 6:7572044-7572044	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.126T>C; p.Y42Y; 6:7542041-7542041	breast	carcinoma	Substitution - coding silent
c.6639C>G; p.I2213M; 6:7583901-7583901	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.695G>A; p.R232H; 6:7562749-7562749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6084A>G; p.K2028K; 6:7583346-7583346	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4606A>G; p.T1536A; 6:7580796-7580796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5049G>A; p.E1683E; 6:7581239-7581239	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6639C>G; p.I2213M; 6:7583901-7583901	breast	carcinoma	Substitution - Missense
c.126T>C; p.Y42Y; 6:7542041-7542041	breast	carcinoma	Substitution - coding silent
c.6010G>T; p.V2004F; 6:7583272-7583272	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1801G>A; p.G601R; 6:7571482-7571482	skin	malignant_melanoma	Substitution - Missense
c.1801G>A; p.G601R; 6:7571482-7571482	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3990C>G; p.L1330L; 6:7580180-7580180	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8372G>A; p.R2791H; 6:7585634-7585634	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5697C>A; p.I1899I; 6:7582959-7582959	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4208G>T; p.R1403M; 6:7580398-7580398	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8041G>A; p.D2681N; 6:7585303-7585303	skin	malignant_melanoma	Substitution - Missense
c.6033C>T; p.F2011F; 6:7583295-7583295	skin	malignant_melanoma	Substitution - coding silent
c.3653A>T; p.K1218M; 6:7579843-7579843	skin	malignant_melanoma	Substitution - Missense
c.2122G>A; p.E708K; 6:7572060-7572060	skin	malignant_melanoma	Substitution - Missense
c.3718G>A; p.D1240N; 6:7579908-7579908	skin	malignant_melanoma	Substitution - Missense
c.3831A>G; p.Q1277Q; 6:7580021-7580021	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.8157G>A; p.P2719P; 6:7585419-7585419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5233delA; p.N1746fs*7; 6:7581423-7581423	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7824T>C; p.S2608S; 6:7585086-7585086	skin	malignant_melanoma	Substitution - coding silent
c.415C>T; p.Q139*; 6:7558257-7558257	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.7090G>A; p.G2364S; 6:7584352-7584352	breast	carcinoma	Substitution - Missense
c.2468C>T; p.S823L; 6:7575326-7575326	skin	malignant_melanoma	Substitution - Missense
c.4946G>A; p.R1649K; 6:7581136-7581136	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7090G>A; p.G2364S; 6:7584352-7584352	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.7473A>C; p.E2491D; 6:7584735-7584735	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7565G>A; p.R2522K; 6:7584827-7584827	breast	carcinoma	Substitution - Missense
c.8530G>T; p.G2844W; 6:7585792-7585792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2468C>T; p.S823L; 6:7575326-7575326	breast	carcinoma	Substitution - Missense
c.4735C>T; p.R1579W; 6:7580925-7580925	skin	malignant_melanoma	Substitution - Missense
c.809G>A; p.R270Q; 6:7565390-7565390	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.7389G>T; p.K2463N; 6:7584651-7584651	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6136G>A; p.V2046I; 6:7583398-7583398	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7001G>A; p.R2334Q; 6:7584263-7584263	skin	malignant_melanoma	Substitution - Missense
c.2469G>A; p.S823S; 6:7575327-7575327	thyroid	carcinoma; anaplastic_carcinoma	Substitution - coding silent
c.4567G>A; p.E1523K; 6:7580757-7580757	skin	malignant_melanoma	Substitution - Missense
c.6189G>A; p.R2063R; 6:7583451-7583451	skin	malignant_melanoma	Substitution - coding silent
c.2469G>A; p.S823S; 6:7575327-7575327	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1540C>T; p.P514S; 6:7569306-7569306	skin	malignant_melanoma	Substitution - Missense
c.8364C>T; p.A2788A; 6:7585626-7585626	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.7856T>C; p.I2619T; 6:7585118-7585118	prostate	carcinoma	Substitution - Missense
c.3920C>T; p.A1307V; 6:7580110-7580110	skin; trunk	malignant_melanoma	Substitution - Missense
c.4983C>T; p.V1661V; 6:7581173-7581173	pancreas	carcinoma	Substitution - coding silent
c.7438C>A; p.Q2480K; 6:7584700-7584700	skin	malignant_melanoma	Substitution - Missense
c.2243G>A; p.G748E; 6:7574198-7574198	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7702G>A; p.G2568S; 6:7584964-7584964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3501G>T; p.K1167N; 6:7579691-7579691	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4983C>T; p.V1661V; 6:7581173-7581173	skin	malignant_melanoma	Substitution - coding silent
c.4095G>A; p.Q1365Q; 6:7580285-7580285	skin	malignant_melanoma	Substitution - coding silent
c.1425C>T; p.I475I; 6:7569191-7569191	skin	malignant_melanoma	Substitution - coding silent
c.3651G>A; p.T1217T; 6:7579841-7579841	skin	malignant_melanoma	Substitution - coding silent
c.2463G>T; p.K821N; 6:7575321-7575321	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5332G>A; p.E1778K; 6:7581522-7581522	skin	malignant_melanoma	Substitution - Missense
c.3651G>A; p.T1217T; 6:7579841-7579841	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3651G>A; p.T1217T; 6:7579841-7579841	skin	malignant_melanoma	Substitution - coding silent
c.7342G>A; p.E2448K; 6:7584604-7584604	skin	malignant_melanoma	Substitution - Missense
c.3631G>A; p.E1211K; 6:7579821-7579821	NS	malignant_melanoma	Substitution - Missense
c.3631G>A; p.E1211K; 6:7579821-7579821	NS	malignant_melanoma	Substitution - Missense
c.792G>T; p.E264D; 6:7565373-7565373	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2596C>T; p.R866C; 6:7575454-7575454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5377G>A; p.E1793K; 6:7581567-7581567	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.740C>T; p.A247V; 6:7563749-7563749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7098C>T; p.R2366R; 6:7584360-7584360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4279G>A; p.E1427K; 6:7580469-7580469	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7709G>C; p.S2570T; 6:7584971-7584971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8048A>C; p.D2683A; 6:7585310-7585310	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6415A>C; p.N2139H; 6:7583677-7583677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2878-1G>A; p.?; 6:7577778-7577778	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Unknown
c.363C>T; p.L121L; 6:7558205-7558205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8278G>A; p.A2760T; 6:7585540-7585540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1947C>T; p.V649V; 6:7571885-7571885	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5513G>A; p.R1838H; 6:7582775-7582775	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8245G>A; p.E2749K; 6:7585507-7585507	skin	malignant_melanoma	Substitution - Missense
c.148G>A; p.D50N; 6:7542063-7542063	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1420-1G>A; p.?; 6:7569185-7569185	skin	malignant_melanoma	Unknown
c.1744G>A; p.D582N; 6:7571425-7571425	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4895A>T; p.D1632V; 6:7581085-7581085	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8421C>T; p.S2807S; 6:7585683-7585683	skin	malignant_melanoma	Substitution - coding silent
c.8011C>A; p.L2671I; 6:7585273-7585273	kidney	other; neoplasm	Substitution - Missense
c.3739C>T; p.R1247*; 6:7579929-7579929	skin	malignant_melanoma	Substitution - Nonsense
c.1310A>G; p.N437S; 6:7568480-7568480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7647C>T; p.S2549S; 6:7584909-7584909	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1025C>A; p.P342Q; 6:7566462-7566462	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.570A>C; p.E190D; 6:7559373-7559373	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7527G>A; p.T2509T; 6:7584789-7584789	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.2107A>G; p.T703A; 6:7572045-7572045	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4489C>T; p.R1497W; 6:7580679-7580679	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.334G>T; p.A112S; 6:7558176-7558176	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1695C>T; p.I565I; 6:7570557-7570557	skin	malignant_melanoma	Substitution - coding silent
c.5321_5322delAG; p.R1777fs*8; 6:7581511-7581512	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5321_5322delAG; p.R1777fs*8; 6:7581511-7581512	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1704G>A; p.L568L; 6:7571385-7571385	central_nervous_system; brain	glioma	Substitution - coding silent
c.1599C>G; p.I533M; 6:7570461-7570461	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1566C>T; p.L522L; 6:7569332-7569332	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6655G>A; p.V2219I; 6:7583917-7583917	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4514C>T; p.A1505V; 6:7580704-7580704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8582C>A; p.S2861Y; 6:7585844-7585844	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2788C>T; p.Q930*; 6:7576451-7576451	skin; trunk	malignant_melanoma	Substitution - Nonsense
c.2429G>A; p.G810E; 6:7574788-7574788	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1545G>A; p.P515P; 6:7569311-7569311	skin	malignant_melanoma	Substitution - coding silent
c.2429G>A; p.G810E; 6:7574788-7574788	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.757G>A; p.E253K; 6:7563766-7563766	skin	malignant_melanoma	Substitution - Missense
c.8198C>A; p.T2733K; 6:7585460-7585460	breast	carcinoma	Substitution - Missense
c.7996G>T; p.G2666C; 6:7585258-7585258	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5834G>A; p.R1945H; 6:7583096-7583096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7649G>T; p.G2550V; 6:7584911-7584911	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8035G>A; p.V2679M; 6:7585297-7585297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1650G>A; p.W550*; 6:7570512-7570512	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6292G>T; p.D2098Y; 6:7583554-7583554	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1417C>T; p.Q473*; 6:7568587-7568587	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1138C>T; p.Q380*; 6:7567447-7567447	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.7103T>C; p.L2368S; 6:7584365-7584365	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1138C>T; p.Q380*; 6:7567447-7567447	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.4391G>A; p.R1464K; 6:7580581-7580581	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.807G>A; p.L269L; 6:7565388-7565388	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2130+1G>A; p.?; 6:7572069-7572069	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Unknown
c.7916G>A; p.R2639Q; 6:7585178-7585178	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.43G>A; p.G15S; 6:7541958-7541958	NS	malignant_melanoma	Substitution - Missense
c.2956C>T; p.Q986*; 6:7577857-7577857	breast	carcinoma	Substitution - Nonsense
c.1037A>G; p.K346R; 6:7566474-7566474	liver	carcinoma	Substitution - Missense
c.3819C>T; p.N1273N; 6:7580009-7580009	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1131C>A; p.A377A; 6:7567440-7567440	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4947G>A; p.R1649R; 6:7581137-7581137	skin	malignant_melanoma	Substitution - coding silent
c.284A>T; p.Y95F; 6:7558126-7558126	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2917G>A; p.E973K; 6:7577818-7577818	skin	malignant_melanoma	Substitution - Missense
c.2719C>T; p.R907C; 6:7576382-7576382	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6223C>T; p.R2075W; 6:7583485-7583485	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7804T>G; p.L2602V; 6:7585066-7585066	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2719C>T; p.R907C; 6:7576382-7576382	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6094G>A; p.V2032I; 6:7583356-7583356	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.8613C>G; p.H2871Q; 6:7585875-7585875	liver	carcinoma	Substitution - Missense
c.4230G>A; p.K1410K; 6:7580420-7580420	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.521G>A; p.C174Y; 6:7559324-7559324	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7600A>G; p.I2534V; 6:7584862-7584862	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3731G>C; p.R1244T; 6:7579921-7579921	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1140G>A; p.Q380Q; 6:7567449-7567449	skin	malignant_melanoma	Substitution - coding silent
c.4199G>A; p.R1400Q; 6:7580389-7580389	skin	malignant_melanoma	Substitution - Missense
c.6850C>T; p.R2284*; 6:7584112-7584112	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.8582C>T; p.S2861F; 6:7585844-7585844	skin	malignant_melanoma	Substitution - Missense
c.2812T>C; p.S938P; 6:7576977-7576977	skin	malignant_melanoma	Substitution - Missense
c.4199G>A; p.R1400Q; 6:7580389-7580389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8582C>T; p.S2861F; 6:7585844-7585844	skin	malignant_melanoma	Substitution - Missense
c.6850C>T; p.R2284*; 6:7584112-7584112	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.7995G>T; p.T2665T; 6:7585257-7585257	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5160_5162delAGA; p.E1723delE; 6:7581350-7581352	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.5160_5162delAGA; p.E1723delE; 6:7581350-7581352	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1087C>T; p.Q363*; 6:7567396-7567396	breast	carcinoma	Substitution - Nonsense
c.5160_5162delAGA; p.E1723delE; 6:7581350-7581352	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.4668C>T; p.I1556I; 6:7580858-7580858	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7078G>A; p.E2360K; 6:7584340-7584340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4620C>T; p.I1540I; 6:7580810-7580810	skin	malignant_melanoma	Substitution - coding silent
c.1171T>A; p.Y391N; 6:7567811-7567811	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1435G>A; p.G479R; 6:7569201-7569201	skin	malignant_melanoma	Substitution - Missense
c.8276G>A; p.R2759H; 6:7585538-7585538	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3590A>G; p.N1197S; 6:7579780-7579780	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6019G>A; p.E2007K; 6:7583281-7583281	skin	malignant_melanoma	Substitution - Missense
c.65C>G; p.S22C; 6:7541980-7541980	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4535A>C; p.Y1512S; 6:7580725-7580725	breast	carcinoma	Substitution - Missense
c.5788A>G; p.T1930A; 6:7583050-7583050	skin	malignant_melanoma	Substitution - Missense
c.8277C>A; p.R2759R; 6:7585539-7585539	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8567C>G; p.S2856C; 6:7585829-7585829	skin	malignant_melanoma	Substitution - Missense
c.7840G>A; p.E2614K; 6:7585102-7585102	skin	malignant_melanoma	Substitution - Missense
c.2878G>A; p.D960N; 6:7577779-7577779	skin	malignant_melanoma	Substitution - Missense
c.7754C>G; p.S2585C; 6:7585016-7585016	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5413T>C; p.C1805R; 6:7582675-7582675	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5808G>C; p.Q1936H; 6:7583070-7583070	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.313C>T; p.R105*; 6:7558155-7558155	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.5808G>C; p.Q1936H; 6:7583070-7583070	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.4672C>T; p.R1558W; 6:7580862-7580862	skin	malignant_melanoma	Substitution - Missense
c.5221G>A; p.A1741T; 6:7581411-7581411	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4232G>A; p.R1411K; 6:7580422-7580422	skin	malignant_melanoma	Substitution - Missense
c.1468C>T; p.R490C; 6:7569234-7569234	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.8359G>T; p.D2787Y; 6:7585621-7585621	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.798delG; p.D267fs*50; 6:7565379-7565379	liver	carcinoma	Deletion - Frameshift
c.6182C>A; p.P2061H; 6:7583444-7583444	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2985+5A>G; p.?; 6:7577891-7577891	liver	carcinoma	Unknown
c.2985+5A>G; p.?; 6:7577891-7577891	liver	carcinoma	Unknown
c.6509A>C; p.K2170T; 6:7583771-7583771	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1701+1G>T; p.?; 6:7570564-7570564	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.3806G>A; p.R1269Q; 6:7579996-7579996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4041A>G; p.E1347E; 6:7580231-7580231	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5330_5331insGT; p.E1778fs*4; 6:7581520-7581521	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.3241G>A; p.E1081K; 6:7579431-7579431	skin	malignant_melanoma	Substitution - Missense
c.3901C>T; p.Q1301*; 6:7580091-7580091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7698T>C; p.G2566G; 6:7584960-7584960	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7625A>T; p.K2542M; 6:7584887-7584887	breast	carcinoma	Substitution - Missense
c.102_103insG; p.T37fs*56; 6:7542017-7542018	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3241G>A; p.E1081K; 6:7579431-7579431	skin	malignant_melanoma	Substitution - Missense
c.4515G>A; p.A1505A; 6:7580705-7580705	skin	malignant_melanoma	Substitution - coding silent
c.939C>T; p.S313S; 6:7565520-7565520	skin	malignant_melanoma	Substitution - coding silent
c.71C>A; p.P24Q; 6:7541986-7541986	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4587G>A; p.K1529K; 6:7580777-7580777	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8468C>A; p.P2823Q; 6:7585730-7585730	urinary_tract; bladder	carcinoma	Substitution - Missense
c.649C>T; p.H217Y; 6:7562703-7562703	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7720G>C; p.G2574R; 6:7584982-7584982	skin	malignant_melanoma	Substitution - Missense
c.478C>G; p.R160G; 6:7559281-7559281	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3756A>T; p.E1252D; 6:7579946-7579946	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5437G>C; p.E1813Q; 6:7582699-7582699	breast	carcinoma	Substitution - Missense
c.4295A>C; p.Q1432P; 6:7580485-7580485	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5408A>C; p.N1803T; 6:7582670-7582670	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8020G>A; p.A2674T; 6:7585282-7585282	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.279G>A; p.L93L; 6:7558121-7558121	skin	malignant_melanoma	Substitution - coding silent
c.1216G>A; p.D406N; 6:7567856-7567856	skin	malignant_melanoma	Substitution - Missense
c.3956C>T; p.T1319I; 6:7580146-7580146	breast	carcinoma	Substitution - Missense
c.6353G>C; p.R2118T; 6:7583615-7583615	breast	carcinoma	Substitution - Missense
c.6126A>G; p.P2042P; 6:7583388-7583388	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.7154G>A; p.R2385H; 6:7584416-7584416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4302G>A; p.K1434K; 6:7580492-7580492	skin	malignant_melanoma	Substitution - coding silent
c.3003T>A; p.A1001A; 6:7578481-7578481	pancreas	carcinoma	Substitution - coding silent
c.2623G>C; p.D875H; 6:7575481-7575481	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4565C>G; p.T1522R; 6:7580755-7580755	skin	malignant_melanoma	Substitution - Missense
c.4687C>G; p.L1563V; 6:7580877-7580877	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7808C>T; p.T2603I; 6:7585070-7585070	skin	malignant_melanoma	Substitution - Missense
c.7123delG; p.I2377fs*14; 6:7584385-7584385	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.634G>C; p.A212P; 6:7562688-7562688	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4370T>A; p.M1457K; 6:7580560-7580560	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5795G>A; p.R1932H; 6:7583057-7583057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6349G>C; p.D2117H; 6:7583611-7583611	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6047G>A; p.G2016E; 6:7583309-7583309	skin	malignant_melanoma	Substitution - Missense
c.8524C>T; p.R2842C; 6:7585786-7585786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7833C>A; p.D2611E; 6:7585095-7585095	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.506G>A; p.G169D; 6:7559309-7559309	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6047G>A; p.G2016E; 6:7583309-7583309	skin	malignant_melanoma	Substitution - Missense
c.2884G>C; p.E962Q; 6:7577785-7577785	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4750G>A; p.A1584T; 6:7580940-7580940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6200T>C; p.L2067P; 6:7583462-7583462	skin	malignant_melanoma	Substitution - Missense
c.7298G>A; p.C2433Y; 6:7584560-7584560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4679A>G; p.Q1560R; 6:7580869-7580869	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5621A>C; p.K1874T; 6:7582883-7582883	breast	carcinoma	Substitution - Missense
c.6039G>T; p.R2013R; 6:7583301-7583301	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1200G>A; p.R400R; 6:7567840-7567840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3230C>T; p.A1077V; 6:7579420-7579420	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4604T>G; p.L1535R; 6:7580794-7580794	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4466T>C; p.L1489P; 6:7580656-7580656	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6479G>A; p.R2160Q; 6:7583741-7583741	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5383T>C; p.S1795P; 6:7582645-7582645	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6479G>A; p.R2160Q; 6:7583741-7583741	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4835T>C; p.I1612T; 6:7581025-7581025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8053G>A; p.A2685T; 6:7585315-7585315	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2989G>T; p.A997S; 6:7578467-7578467	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2270A>G; p.N757S; 6:7574225-7574225	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2437-1G>T; p.?; 6:7575294-7575294	lung	carcinoma; mixed_small_cell_carcinoma-adenocarcinoma	Unknown
c.1352G>A; p.R451H; 6:7568522-7568522	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1715G>A; p.R572Q; 6:7571396-7571396	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.308G>A; p.R103Q; 6:7558150-7558150	skin	malignant_melanoma	Substitution - Missense
c.2843delA; p.I950fs*27; 6:7577008-7577008	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.3209C>T; p.S1070F; 6:7579399-7579399	skin	malignant_melanoma	Substitution - Missense
c.5320_5321insAG; p.E1778fs*4; 6:7581510-7581511	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5959G>T; p.D1987Y; 6:7583221-7583221	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3209C>T; p.S1070F; 6:7579399-7579399	skin	malignant_melanoma	Substitution - Missense
c.6738T>A; p.V2246V; 6:7584000-7584000	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.8609G>A; p.G2870E; 6:7585871-7585871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.629A>G; p.D210G; 6:7562683-7562683	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1815G>A; p.K605K; 6:7571496-7571496	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7762G>T; p.E2588*; 6:7585024-7585024	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4565C>A; p.T1522K; 6:7580755-7580755	thyroid	other; neoplasm	Substitution - Missense
c.6814C>T; p.L2272F; 6:7584076-7584076	skin	malignant_melanoma	Substitution - Missense
c.726G>T; p.L242L; 6:7562780-7562780	kidney	other; neoplasm	Substitution - coding silent
c.8371C>T; p.R2791C; 6:7585633-7585633	skin	malignant_melanoma	Substitution - Missense
c.7938G>A; p.T2646T; 6:7585200-7585200	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2281G>T; p.D761Y; 6:7574236-7574236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1538C>A; p.P513H; 6:7569304-7569304	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.672C>G; p.I224M; 6:7562726-7562726	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.245T>C; p.L82S; 6:7555792-7555792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6818G>A; p.G2273D; 6:7584080-7584080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8463G>A; p.S2821S; 6:7585725-7585725	skin	malignant_melanoma	Substitution - coding silent
c.7915C>T; p.R2639W; 6:7585177-7585177	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.7915C>T; p.R2639W; 6:7585177-7585177	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5880C>T; p.T1960T; 6:7583142-7583142	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1591G>A; p.E531K; 6:7570453-7570453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5622G>A; p.K1874K; 6:7582884-7582884	skin	malignant_melanoma	Substitution - coding silent
c.7241G>T; p.G2414V; 6:7584503-7584503	skin	malignant_melanoma	Substitution - Missense
c.5218G>A; p.E1740K; 6:7581408-7581408	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.6762C>G; p.L2254L; 6:7584024-7584024	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5218G>A; p.E1740K; 6:7581408-7581408	skin	malignant_melanoma	Substitution - Missense
c.7374G>T; p.K2458N; 6:7584636-7584636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7374G>T; p.K2458N; 6:7584636-7584636	breast	carcinoma	Substitution - Missense
c.5218G>A; p.E1740K; 6:7581408-7581408	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7374G>T; p.K2458N; 6:7584636-7584636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1469G>A; p.R490H; 6:7569235-7569235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6762C>G; p.L2254L; 6:7584024-7584024	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5070A>C; p.E1690D; 6:7581260-7581260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6834G>A; p.M2278I; 6:7584096-7584096	skin	malignant_melanoma	Substitution - Missense
c.1488G>A; p.T496T; 6:7569254-7569254	skin	malignant_melanoma	Substitution - coding silent
c.6079G>A; p.E2027K; 6:7583341-7583341	skin	malignant_melanoma	Substitution - Missense
c.6079G>A; p.E2027K; 6:7583341-7583341	skin	malignant_melanoma	Substitution - Missense
c.4583T>C; p.L1528P; 6:7580773-7580773	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2358T>G; p.V786V; 6:7574717-7574717	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6079G>A; p.E2027K; 6:7583341-7583341	skin	malignant_melanoma	Substitution - Missense
c.4583T>C; p.L1528P; 6:7580773-7580773	stomach	adenocarcinoma	Substitution - Missense
c.1976G>A; p.R659K; 6:7571914-7571914	skin	malignant_melanoma	Substitution - Missense
c.1465G>A; p.E489K; 6:7569231-7569231	skin	malignant_melanoma	Substitution - Missense
c.8095G>A; p.E2699K; 6:7585357-7585357	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3333C>T; p.I1111I; 6:7579523-7579523	skin	malignant_melanoma	Substitution - coding silent
c.1298G>A; p.R433H; 6:7568468-7568468	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2413G>A; p.E805K; 6:7574772-7574772	skin; trunk	malignant_melanoma	Substitution - Missense
c.4763C>T; p.S1588F; 6:7580953-7580953	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.7924G>A; p.V2642I; 6:7585186-7585186	skin	malignant_melanoma	Substitution - Missense
c.3303C>T; p.Y1101Y; 6:7579493-7579493	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.2637G>A; p.W879*; 6:7576300-7576300	skin	malignant_melanoma	Substitution - Nonsense
c.5230G>A; p.D1744N; 6:7581420-7581420	skin	malignant_melanoma	Substitution - Missense
c.1938C>A; p.C646*; 6:7571876-7571876	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.888C>T; p.Y296Y; 6:7565469-7565469	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.888C>T; p.Y296Y; 6:7565469-7565469	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2143G>A; p.D715N; 6:7574098-7574098	skin	malignant_melanoma	Substitution - Missense
c.1245G>A; p.L415L; 6:7567885-7567885	skin	malignant_melanoma	Substitution - coding silent
c.759G>T; p.E253D; 6:7563768-7563768	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3805C>T; p.R1269*; 6:7579995-7579995	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.2065delA; p.N690fs*4; 6:7572003-7572003	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2649A>G; p.K883K; 6:7576312-7576312	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - coding silent
c.270G>A; p.Q90Q; 6:7555817-7555817	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6605C>T; p.S2202L; 6:7583867-7583867	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5189A>G; p.E1730G; 6:7581379-7581379	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.70C>T; p.P24S; 6:7541985-7541985	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2068A>C; p.N690H; 6:7572006-7572006	skin	malignant_melanoma	Substitution - Missense
c.1398C>T; p.L466L; 6:7568568-7568568	skin	malignant_melanoma	Substitution - coding silent
c.6207C>T; p.V2069V; 6:7583469-7583469	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4044G>C; p.L1348L; 6:7580234-7580234	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3863A>C; p.K1288T; 6:7580053-7580053	breast	carcinoma	Substitution - Missense
c.8455A>C; p.M2819L; 6:7585717-7585717	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3361G>T; p.E1121*; 6:7579551-7579551	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3613A>T; p.N1205Y; 6:7579803-7579803	ovary	other; neoplasm	Substitution - Missense
c.5410C>T; p.Q1804*; 6:7582672-7582672	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6844T>G; p.L2282V; 6:7584106-7584106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2356_2357insT; p.Y787fs*2; 6:7574715-7574716	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.898G>A; p.D300N; 6:7565479-7565479	skin	malignant_melanoma	Substitution - Missense
c.4293A>G; p.Q1431Q; 6:7580483-7580483	prostate	adenoma	Substitution - coding silent
c.6114A>G; p.K2038K; 6:7583376-7583376	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1456G>A; p.D486N; 6:7569222-7569222	skin	malignant_melanoma	Substitution - Missense
c.4859A>T; p.E1620V; 6:7581049-7581049	liver	carcinoma	Substitution - Missense
c.8462C>T; p.S2821L; 6:7585724-7585724	skin	malignant_melanoma	Substitution - Missense
c.3703C>G; p.L1235V; 6:7579893-7579893	liver	carcinoma	Substitution - Missense
c.7087C>A; p.H2363N; 6:7584349-7584349	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3703C>G; p.L1235V; 6:7579893-7579893	liver	carcinoma	Substitution - Missense
c.4859A>T; p.E1620V; 6:7581049-7581049	liver	carcinoma	Substitution - Missense
c.5615C>T; p.S1872F; 6:7582877-7582877	skin	malignant_melanoma	Substitution - Missense
c.7757G>A; p.R2586Q; 6:7585019-7585019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7121delC; p.I2377fs*14; 6:7584383-7584383	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.5512C>T; p.R1838C; 6:7582774-7582774	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6759C>T; p.F2253F; 6:7584021-7584021	skin	malignant_melanoma	Substitution - coding silent
c.6759C>T; p.F2253F; 6:7584021-7584021	skin	malignant_melanoma	Substitution - coding silent
c.5512C>T; p.R1838C; 6:7582774-7582774	skin	malignant_melanoma	Substitution - Missense
c.7541C>T; p.S2514F; 6:7584803-7584803	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5615C>T; p.S1872F; 6:7582877-7582877	skin	malignant_melanoma	Substitution - Missense
c.6577G>A; p.E2193K; 6:7583839-7583839	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2907C>A; p.T969T; 6:7577808-7577808	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7116C>T; p.I2372I; 6:7584378-7584378	skin	malignant_melanoma	Substitution - coding silent
c.5213G>A; p.R1738Q; 6:7581403-7581403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5213G>A; p.R1738Q; 6:7581403-7581403	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.32T>A; p.I11N; 6:7541947-7541947	skin	malignant_melanoma	Substitution - Missense
c.293G>A; p.G98E; 6:7558135-7558135	skin	malignant_melanoma	Substitution - Missense
c.5390G>A; p.R1797K; 6:7582652-7582652	skin	malignant_melanoma	Substitution - Missense
c.5390G>A; p.R1797K; 6:7582652-7582652	skin	malignant_melanoma	Substitution - Missense
c.4693G>C; p.E1565Q; 6:7580883-7580883	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8255G>A; p.R2752Q; 6:7585517-7585517	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4965G>A; p.R1655R; 6:7581155-7581155	skin	malignant_melanoma	Substitution - coding silent
c.1614C>T; p.N538N; 6:7570476-7570476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6132C>T; p.S2044S; 6:7583394-7583394	skin	malignant_melanoma	Substitution - coding silent
c.6132C>T; p.S2044S; 6:7583394-7583394	skin	malignant_melanoma	Substitution - coding silent

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]