Entrez Gene

Basic Information
Gene ID	170692
Name	ADAMTS18
Synonymous	ADAM metallopeptidase with thrombospondin type 1 motif, 18;ADAMTS18;ADAM metallopeptidase with thrombospondin type 1 motif, 18
Definition	A disintegrin and metalloproteinase with thrombospondin motifs 18\|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18\|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 21\|d
Position	16q23
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 0.13.

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.770G>A; p.R257H; 16:77367449-77367449	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1933G>A; p.E645K; 16:77325965-77325965	skin	malignant_melanoma	Substitution - Missense
c.2710C>T; p.Q904*; 16:77297380-77297380	skin; foot	malignant_melanoma	Substitution - Nonsense
c.1394_1398delTGACC; p.L465fs*31; 16:77356002-77356006	breast	carcinoma	Deletion - Frameshift
c.1091C>T; p.S364F; 16:77362230-77362230	skin	malignant_melanoma	Substitution - Missense
c.528C>T; p.F176F; 16:77367691-77367691	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3600G>A; p.Q1200Q; 16:77284022-77284022	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3231G>A; p.M1077I; 16:77291437-77291437	skin	malignant_melanoma	Substitution - Missense
c.1519C>T; p.P507S; 16:77353828-77353828	skin	malignant_melanoma	Substitution - Missense
c.1454T>C; p.F485S; 16:77355946-77355946	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.558C>T; p.A186A; 16:77367661-77367661	skin	malignant_melanoma	Substitution - coding silent
c.3210G>C; p.L1070F; 16:77291458-77291458	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.972+4A>G; p.?; 16:77364184-77364184	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2375G>A; p.R792Q; 16:77320006-77320006	skin	malignant_melanoma	Substitution - Missense
c.2375G>A; p.R792Q; 16:77320006-77320006	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2966A>T; p.H989L; 16:77294963-77294963	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2764G>C; p.E922Q; 16:77297326-77297326	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2085delT; p.F695fs*7; 16:77322414-77322414	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	stomach	adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	skin	malignant_melanoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3256G>T; p.G1086*; 16:77291412-77291412	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.548A>G; p.Q183R; 16:77367671-77367671	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2085delT; p.F695fs*7; 16:77322414-77322414	stomach	adenocarcinoma	Deletion - Frameshift
c.2532A>C; p.E844D; 16:77319849-77319849	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2604A>C; p.P868P; 16:77300333-77300333	thyroid	other; neoplasm	Substitution - coding silent
c.2604A>C; p.P868P; 16:77300333-77300333	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1741G>T; p.G581W; 16:77335874-77335874	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2604A>C; p.P868P; 16:77300333-77300333	thyroid	other; neoplasm	Substitution - coding silent
c.3595C>T; p.P1199S; 16:77284027-77284027	skin	malignant_melanoma	Substitution - Missense
c.194C>T; p.T65M; 16:77431596-77431596	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2965C>T; p.H989Y; 16:77294964-77294964	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.581C>T; p.P194L; 16:77367638-77367638	skin	malignant_melanoma	Substitution - Missense
c.684C>T; p.S228S; 16:77367535-77367535	skin	malignant_melanoma	Substitution - coding silent
c.3474A>G; p.S1158S; 16:77289340-77289340	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2061G>T; p.K687N; 16:77322438-77322438	skin; shoulder	malignant_melanoma	Substitution - Missense
c.3514T>C; p.C1172R; 16:77289300-77289300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2436C>T; p.F812F; 16:77319945-77319945	skin	malignant_melanoma	Substitution - coding silent
c.2625C>A; p.A875A; 16:77300312-77300312	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.531C>G; p.L177L; 16:77367688-77367688	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.732C>T; p.H244H; 16:77367487-77367487	skin	malignant_melanoma	Substitution - coding silent
c.779-6T>A; p.?; 16:77364387-77364387	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.2436C>T; p.F812F; 16:77319945-77319945	skin	malignant_melanoma	Substitution - coding silent
c.1350G>A; p.G450G; 16:77356050-77356050	skin	malignant_melanoma	Substitution - coding silent
c.842G>A; p.R281Q; 16:77364318-77364318	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2565T>A; p.A855A; 16:77300372-77300372	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.974T>A; p.V325D; 16:77363884-77363884	skin	malignant_melanoma	Substitution - Missense
c.3557C>T; p.P1186L; 16:77284065-77284065	skin	malignant_melanoma	Substitution - Missense
c.3557C>T; p.P1186L; 16:77284065-77284065	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.839G>T; p.G280V; 16:77364321-77364321	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1153C>T; p.H385Y; 16:77362168-77362168	skin	malignant_melanoma	Substitution - Missense
c.2218G>T; p.V740F; 16:77321148-77321148	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2485G>A; p.E829K; 16:77319896-77319896	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.273G>C; p.Q91H; 16:77431517-77431517	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2412G>T; p.W804C; 16:77319969-77319969	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2519C>T; p.T840M; 16:77319862-77319862	pancreas	carcinoma	Substitution - Missense
c.1951C>T; p.R651W; 16:77325947-77325947	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1951C>T; p.R651W; 16:77325947-77325947	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2081T>A; p.F694Y; 16:77322418-77322418	skin; neck	malignant_melanoma	Substitution - Missense
c.2471C>T; p.S824F; 16:77319910-77319910	skin	malignant_melanoma	Substitution - Missense
c.1951C>T; p.R651W; 16:77325947-77325947	skin	malignant_melanoma	Substitution - Missense
c.3347C>G; p.P1116R; 16:77291321-77291321	urinary_tract; bladder	carcinoma	Substitution - Missense
c.785C>T; p.P262L; 16:77364375-77364375	skin	malignant_melanoma	Substitution - Missense
c.3051C>T; p.L1017L; 16:77293214-77293214	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2612C>G; p.T871R; 16:77300325-77300325	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1363A>G; p.K455E; 16:77356037-77356037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2337_2338CC>TT; p.Q780*; 16:77320043-77320044	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2496C>T; p.Y832Y; 16:77319885-77319885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2496C>T; p.Y832Y; 16:77319885-77319885	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2496C>T; p.Y832Y; 16:77319885-77319885	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.556G>T; p.A186S; 16:77367663-77367663	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.234C>T; p.H78H; 16:77431556-77431556	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3593T>C; p.V1198A; 16:77284029-77284029	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.234C>T; p.H78H; 16:77431556-77431556	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2374C>T; p.R792*; 16:77320007-77320007	skin	malignant_melanoma	Substitution - Nonsense
c.2555C>T; p.P852L; 16:77300382-77300382	skin	malignant_melanoma	Substitution - Missense
c.3065C>T; p.A1022V; 16:77293200-77293200	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.850A>G; p.R284G; 16:77364310-77364310	pancreas	carcinoma	Substitution - Missense
c.3186C>T; p.S1062S; 16:77293079-77293079	breast	carcinoma	Substitution - coding silent
c.850A>G; p.R284G; 16:77364310-77364310	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.3377G>T; p.G1126V; 16:77291291-77291291	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3644A>G; p.K1215R; 16:77283978-77283978	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.815_817delGGT; p.R272_F273>I; 16:77364343-77364345	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Complex - deletion inframe
c.1587C>A; p.A529A; 16:77353760-77353760	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3044A>G; p.E1015G; 16:77293221-77293221	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2000T>G; p.F667C; 16:77325898-77325898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1330A>C; p.M444L; 16:77356070-77356070	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.944C>T; p.T315I; 16:77364216-77364216	skin	malignant_melanoma	Substitution - Missense
c.1896C>T; p.S632S; 16:77326002-77326002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2189G>T; p.G730V; 16:77321177-77321177	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3663C>T; p.I1221I; 16:77283959-77283959	skin	malignant_melanoma	Substitution - coding silent
c.2710C>A; p.Q904K; 16:77297380-77297380	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2016C>G; p.P672P; 16:77325882-77325882	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.159C>T; p.G53G; 16:77434437-77434437	skin	malignant_melanoma	Substitution - coding silent
c.1427C>T; p.S476F; 16:77355973-77355973	skin	malignant_melanoma	Substitution - Missense
c.2482C>T; p.P828S; 16:77319899-77319899	skin	malignant_melanoma	Substitution - Missense
c.1731C>T; p.C577C; 16:77335884-77335884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2739C>T; p.C913C; 16:77297351-77297351	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1427C>T; p.S476F; 16:77355973-77355973	skin	malignant_melanoma	Substitution - Missense
c.3100C>A; p.L1034I; 16:77293165-77293165	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.642C>T; p.Y214Y; 16:77367577-77367577	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2154G>A; p.G718G; 16:77322345-77322345	skin	malignant_melanoma	Substitution - coding silent
c.1018G>A; p.V340M; 16:77363840-77363840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3100C>A; p.L1034I; 16:77293165-77293165	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.3100C>A; p.L1034I; 16:77293165-77293165	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.2250T>G; p.F750L; 16:77321116-77321116	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.267G>A; p.S89S; 16:77431523-77431523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.157G>C; p.G53R; 16:77434439-77434439	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1628C>T; p.S543L; 16:77341786-77341786	skin	malignant_melanoma	Substitution - Missense
c.656G>A; p.G219D; 16:77367563-77367563	skin	malignant_melanoma	Substitution - Missense
c.656G>A; p.G219D; 16:77367563-77367563	skin	malignant_melanoma	Substitution - Missense
c.2447G>T; p.G816V; 16:77319934-77319934	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1628C>T; p.S543L; 16:77341786-77341786	skin	malignant_melanoma	Substitution - Missense
c.3240C>A; p.S1080R; 16:77291428-77291428	skin	malignant_melanoma	Substitution - Missense
c.2029G>A; p.E677K; 16:77325869-77325869	skin	malignant_melanoma	Substitution - Missense
c.3240C>A; p.S1080R; 16:77291428-77291428	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3240C>A; p.S1080R; 16:77291428-77291428	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3240C>A; p.S1080R; 16:77291428-77291428	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3240C>A; p.S1080R; 16:77291428-77291428	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.562G>A; p.E188K; 16:77367657-77367657	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3240C>A; p.S1080R; 16:77291428-77291428	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2836G>T; p.A946S; 16:77295093-77295093	thyroid	other; neoplasm	Substitution - Missense
c.2836G>T; p.A946S; 16:77295093-77295093	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2536C>T; p.L846L; 16:77300401-77300401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3240C>A; p.S1080R; 16:77291428-77291428	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3240C>A; p.S1080R; 16:77291428-77291428	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1397C>G; p.T466S; 16:77356003-77356003	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.585G>T; p.A195A; 16:77367634-77367634	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3582G>T; p.W1194C; 16:77284040-77284040	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1286G>A; p.G429D; 16:77359354-77359354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2354C>T; p.S785F; 16:77320027-77320027	skin	malignant_melanoma	Substitution - Missense
c.2354C>T; p.S785F; 16:77320027-77320027	skin	malignant_melanoma	Substitution - Missense
c.2354C>T; p.S785F; 16:77320027-77320027	skin	malignant_melanoma	Substitution - Missense
c.3257G>A; p.G1086E; 16:77291411-77291411	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2354C>T; p.S785F; 16:77320027-77320027	skin	malignant_melanoma	Substitution - Missense
c.3078C>G; p.L1026L; 16:77293187-77293187	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.750G>A; p.K250K; 16:77367469-77367469	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2551A>G; p.N851D; 16:77300386-77300386	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.966G>A; p.M322I; 16:77364194-77364194	skin	malignant_melanoma	Substitution - Missense
c.994G>T; p.G332W; 16:77363864-77363864	skin	malignant_melanoma	Substitution - Missense
c.609C>T; p.Y203Y; 16:77367610-77367610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.966G>A; p.M322I; 16:77364194-77364194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1436G>A; p.R479H; 16:77355964-77355964	thyroid	carcinoma	Substitution - Missense
c.1436G>A; p.R479H; 16:77355964-77355964	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3454C>T; p.Q1152*; 16:77289360-77289360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1436G>A; p.R479H; 16:77355964-77355964	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.394G>C; p.A132P; 16:77431396-77431396	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1190G>A; p.W397*; 16:77362131-77362131	thyroid	carcinoma	Substitution - Nonsense
c.3483G>C; p.L1161L; 16:77289331-77289331	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.774G>A; p.K258K; 16:77367445-77367445	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.3171C>T; p.V1057V; 16:77293094-77293094	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.183C>T; p.Y61Y; 16:77431607-77431607	pancreas	carcinoma	Substitution - coding silent
c.183C>T; p.Y61Y; 16:77431607-77431607	pancreas	carcinoma	Substitution - coding silent
c.183C>T; p.Y61Y; 16:77431607-77431607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2319C>T; p.G773G; 16:77320062-77320062	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.935G>A; p.G312E; 16:77364225-77364225	skin; scalp	malignant_melanoma	Substitution - Missense
c.3471C>T; p.S1157S; 16:77289343-77289343	skin	malignant_melanoma	Substitution - coding silent
c.867A>G; p.S289S; 16:77364293-77364293	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.434A>T; p.Y145F; 16:77431356-77431356	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>A; p.R256Q; 16:77367452-77367452	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3086G>A; p.S1029N; 16:77293179-77293179	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2861G>A; p.R954Q; 16:77295068-77295068	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3004C>T; p.Q1002*; 16:77294925-77294925	skin; chest	malignant_melanoma	Substitution - Nonsense
c.2861G>A; p.R954Q; 16:77295068-77295068	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2095G>A; p.G699S; 16:77322404-77322404	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3584G>C; p.C1195S; 16:77284038-77284038	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2095G>A; p.G699S; 16:77322404-77322404	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.304_305insT; p.S102fs*12; 16:77431485-77431486	peritoneum; appendix	other; pseudomyxoma_peritonei	Insertion - Frameshift
c.627G>A; p.E209E; 16:77367592-77367592	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.299G>A; p.R100Q; 16:77431491-77431491	skin	malignant_melanoma	Substitution - Missense
c.299G>A; p.R100Q; 16:77431491-77431491	skin	malignant_melanoma	Substitution - Missense
c.515G>A; p.R172Q; 16:77367704-77367704	skin	malignant_melanoma	Substitution - Missense
c.737G>A; p.R246Q; 16:77367482-77367482	skin	malignant_melanoma	Substitution - Missense
c.2993G>A; p.G998E; 16:77294936-77294936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.515G>A; p.R172Q; 16:77367704-77367704	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.515G>A; p.R172Q; 16:77367704-77367704	skin	malignant_melanoma	Substitution - Missense
c.2484G>A; p.P828P; 16:77319897-77319897	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.515G>A; p.R172Q; 16:77367704-77367704	NS	malignant_melanoma	Substitution - Missense
c.515G>A; p.R172Q; 16:77367704-77367704	skin	malignant_melanoma	Substitution - Missense
c.515G>A; p.R172Q; 16:77367704-77367704	skin	malignant_melanoma	Substitution - Missense
c.515G>A; p.R172Q; 16:77367704-77367704	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.515G>A; p.R172Q; 16:77367704-77367704	skin	malignant_melanoma	Substitution - Missense
c.877C>A; p.L293I; 16:77364283-77364283	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2013A>C; p.K671N; 16:77325885-77325885	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1701C>T; p.G567G; 16:77341713-77341713	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2601T>C; p.T867T; 16:77300336-77300336	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.2601T>C; p.T867T; 16:77300336-77300336	thyroid	other; neoplasm	Substitution - coding silent
c.3436C>G; p.R1146G; 16:77289378-77289378	liver	carcinoma	Substitution - Missense
c.929G>A; p.G310D; 16:77364231-77364231	kidney	other; neoplasm	Substitution - Missense
c.904G>A; p.D302N; 16:77364256-77364256	skin	malignant_melanoma	Substitution - Missense
c.2298G>A; p.P766P; 16:77320083-77320083	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3300G>A; p.K1100K; 16:77291368-77291368	skin	malignant_melanoma	Substitution - coding silent
c.463T>C; p.S155P; 16:77431327-77431327	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1037T>A; p.I346N; 16:77363821-77363821	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1112G>T; p.W371L; 16:77362209-77362209	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.263G>A; p.R88Q; 16:77431527-77431527	skin	malignant_melanoma	Substitution - Missense
c.3011C>T; p.S1004F; 16:77293254-77293254	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.263G>A; p.R88Q; 16:77431527-77431527	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3041G>A; p.R1014H; 16:77293224-77293224	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3041G>A; p.R1014H; 16:77293224-77293224	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2964C>G; p.S988R; 16:77294965-77294965	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2854C>A; p.Q952K; 16:77295075-77295075	skin	malignant_melanoma	Substitution - Missense
c.841C>G; p.R281G; 16:77364319-77364319	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2274G>T; p.Q758H; 16:77321092-77321092	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.571T>C; p.Y191H; 16:77367648-77367648	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.571T>C; p.Y191H; 16:77367648-77367648	thyroid	other; neoplasm	Substitution - Missense
c.3633A>C; p.K1211N; 16:77283989-77283989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3300G>T; p.K1100N; 16:77291368-77291368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3347C>A; p.P1116Q; 16:77291321-77291321	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1061G>A; p.G354E; 16:77362260-77362260	skin; mucosal	malignant_melanoma	Substitution - Missense
c.78G>A; p.G26G; 16:77434618-77434618	kidney	carcinoma	Substitution - coding silent
c.1219T>G; p.F407V; 16:77359421-77359421	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2922C>T; p.L974L; 16:77295007-77295007	skin	malignant_melanoma	Substitution - coding silent
c.706T>A; p.S236T; 16:77367513-77367513	skin	malignant_melanoma	Substitution - Missense
c.1675C>G; p.P559A; 16:77341739-77341739	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.548A>C; p.Q183P; 16:77367671-77367671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.250G>A; p.G84S; 16:77431540-77431540	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2438C>T; p.P813L; 16:77319943-77319943	skin	malignant_melanoma	Substitution - Missense
c.2705G>A; p.R902Q; 16:77297385-77297385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2705G>A; p.R902Q; 16:77297385-77297385	skin	malignant_melanoma	Substitution - Missense
c.1923C>T; p.N641N; 16:77325975-77325975	skin	malignant_melanoma	Substitution - coding silent
c.1923C>T; p.N641N; 16:77325975-77325975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.320A>T; p.E107V; 16:77431470-77431470	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.632T>A; p.I211N; 16:77367587-77367587	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.263G>T; p.R88L; 16:77431527-77431527	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1991G>A; p.R664H; 16:77325907-77325907	skin	malignant_melanoma	Substitution - Missense
c.320A>T; p.E107V; 16:77431470-77431470	large_intestine; colon	carcinoma	Substitution - Missense
c.320A>T; p.E107V; 16:77431470-77431470	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2061G>A; p.K687K; 16:77322438-77322438	skin	malignant_melanoma	Substitution - coding silent
c.2398C>A; p.L800I; 16:77319983-77319983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2312_2313CA>AG; p.P771Q; 16:77320068-77320069	skin	malignant_melanoma	Substitution - Missense
c.2229T>G; p.G743G; 16:77321137-77321137	breast	carcinoma	Substitution - coding silent
c.3657G>A; p.R1219R; 16:77283965-77283965	skin	malignant_melanoma	Substitution - coding silent
c.1615G>A; p.D539N; 16:77341799-77341799	skin	malignant_melanoma	Substitution - Missense
c.3641G>A; p.C1214Y; 16:77283981-77283981	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.799G>A; p.E267K; 16:77364361-77364361	skin	malignant_melanoma	Substitution - Missense
c.1523A>C; p.D508A; 16:77353824-77353824	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2672G>A; p.G891E; 16:77300265-77300265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.860G>A; p.G287E; 16:77364300-77364300	skin	malignant_melanoma	Substitution - Missense
c.1539G>A; p.Q513Q; 16:77353808-77353808	skin	malignant_melanoma	Substitution - coding silent
c.860G>A; p.G287E; 16:77364300-77364300	skin; face	malignant_melanoma	Substitution - Missense
c.2034G>T; p.E678D; 16:77322465-77322465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2749A>C; p.T917P; 16:77297341-77297341	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1473G>T; p.A491A; 16:77353874-77353874	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1253G>A; p.R418Q; 16:77359387-77359387	skin	malignant_melanoma	Substitution - Missense
c.3025C>T; p.R1009*; 16:77293240-77293240	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3165G>A; p.Q1055Q; 16:77293100-77293100	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2367C>T; p.L789L; 16:77320014-77320014	skin	malignant_melanoma	Substitution - coding silent
c.653C>G; p.P218R; 16:77367566-77367566	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2367C>T; p.L789L; 16:77320014-77320014	pancreas	carcinoma	Substitution - coding silent
c.2508C>T; p.P836P; 16:77319873-77319873	skin	malignant_melanoma	Substitution - coding silent
c.113G>C; p.C38S; 16:77434483-77434483	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3218G>A; p.R1073K; 16:77291450-77291450	skin	malignant_melanoma	Substitution - Missense
c.811C>G; p.L271V; 16:77364349-77364349	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1101T>G; p.S367R; 16:77362220-77362220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1805C>T; p.S602F; 16:77335810-77335810	skin	malignant_melanoma	Substitution - Missense
c.1880T>G; p.F627C; 16:77326018-77326018	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2911T>C; p.L971L; 16:77295018-77295018	oesophagus	carcinoma	Substitution - coding silent
c.3472T>G; p.S1158A; 16:77289342-77289342	breast	carcinoma	Substitution - Missense
c.401A>T; p.E134V; 16:77431389-77431389	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2789C>T; p.S930F; 16:77297301-77297301	skin	malignant_melanoma	Substitution - Missense
c.2789C>T; p.S930F; 16:77297301-77297301	skin	malignant_melanoma	Substitution - Missense
c.3139C>T; p.R1047*; 16:77293126-77293126	kidney	other; neoplasm	Substitution - Nonsense
c.3139C>T; p.R1047*; 16:77293126-77293126	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3402+1G>T; p.?; 16:77291265-77291265	lung	carcinoma; adenocarcinoma	Unknown
c.2081T>G; p.F694C; 16:77322418-77322418	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.385A>T; p.K129*; 16:77431405-77431405	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2304C>T; p.V768V; 16:77320077-77320077	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.895G>A; p.V299M; 16:77364265-77364265	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.655G>A; p.G219S; 16:77367564-77367564	oesophagus	carcinoma	Substitution - Missense
c.659C>T; p.S220F; 16:77367560-77367560	skin	malignant_melanoma	Substitution - Missense
c.990A>C; p.K330N; 16:77363868-77363868	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1810A>G; p.T604A; 16:77335805-77335805	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1810A>G; p.T604A; 16:77335805-77335805	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.342C>A; p.P114P; 16:77431448-77431448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1664C>A; p.T555N; 16:77341750-77341750	pancreas	carcinoma	Substitution - Missense
c.195G>T; p.T65T; 16:77431595-77431595	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2402C>T; p.T801I; 16:77319979-77319979	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1546G>A; p.D516N; 16:77353801-77353801	skin	malignant_melanoma	Substitution - Missense
c.766C>T; p.R256*; 16:77367453-77367453	central_nervous_system; brain	glioma	Substitution - Nonsense
c.289C>G; p.L97V; 16:77431501-77431501	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.514C>G; p.R172G; 16:77367705-77367705	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.854C>G; p.S285*; 16:77364306-77364306	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.319G>A; p.E107K; 16:77431471-77431471	skin; face	malignant_melanoma	Substitution - Missense
c.319G>A; p.E107K; 16:77431471-77431471	skin	malignant_melanoma	Substitution - Missense
c.249C>T; p.N83N; 16:77431541-77431541	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1761C>T; p.P587P; 16:77335854-77335854	skin	malignant_melanoma	Substitution - coding silent
c.536C>T; p.S179L; 16:77367683-77367683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1433G>A; p.S478N; 16:77355967-77355967	skin; neck	malignant_melanoma	Substitution - Missense
c.245A>C; p.H82P; 16:77431545-77431545	stomach	adenocarcinoma	Substitution - Missense
c.266C>T; p.S89L; 16:77431524-77431524	skin	malignant_melanoma	Substitution - Missense
c.707C>A; p.S236Y; 16:77367512-77367512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.707C>A; p.S236Y; 16:77367512-77367512	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3260A>T; p.K1087M; 16:77291408-77291408	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2907A>C; p.A969A; 16:77295022-77295022	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.496T>A; p.S166T; 16:77367723-77367723	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1313C>T; p.S438L; 16:77359327-77359327	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2499G>A; p.A833A; 16:77319882-77319882	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3158G>A; p.R1053Q; 16:77293107-77293107	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2355C>T; p.S785S; 16:77320026-77320026	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2499G>A; p.A833A; 16:77319882-77319882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2499G>A; p.A833A; 16:77319882-77319882	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.3588C>A; p.H1196Q; 16:77284034-77284034	meninges	meningioma	Substitution - Missense
c.1144A>G; p.R382G; 16:77362177-77362177	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2804G>A; p.W935*; 16:77295125-77295125	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1144A>G; p.R382G; 16:77362177-77362177	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1761C>A; p.P587P; 16:77335854-77335854	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.570C>A; p.N190K; 16:77367649-77367649	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1144A>G; p.R382G; 16:77362177-77362177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3444C>G; p.V1148V; 16:77289370-77289370	breast	carcinoma	Substitution - coding silent
c.1768G>A; p.G590S; 16:77335847-77335847	skin	malignant_melanoma	Substitution - Missense
c.1833C>T; p.F611F; 16:77335782-77335782	skin	malignant_melanoma	Substitution - coding silent
c.1912T>A; p.C638S; 16:77325986-77325986	skin	malignant_melanoma	Substitution - Missense
c.2498C>T; p.A833V; 16:77319883-77319883	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1833C>T; p.F611F; 16:77335782-77335782	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3627C>T; p.Y1209Y; 16:77283995-77283995	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2498C>T; p.A833V; 16:77319883-77319883	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2498C>T; p.A833V; 16:77319883-77319883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2442C>T; p.F814F; 16:77319939-77319939	skin	malignant_melanoma	Substitution - coding silent
c.3627C>T; p.Y1209Y; 16:77283995-77283995	pancreas	carcinoma	Substitution - coding silent
c.2498C>T; p.A833V; 16:77319883-77319883	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2498C>T; p.A833V; 16:77319883-77319883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2419G>A; p.D807N; 16:77319962-77319962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.894C>T; p.L298L; 16:77364266-77364266	skin	malignant_melanoma	Substitution - coding silent
c.3040C>T; p.R1014C; 16:77293225-77293225	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2247G>C; p.K749N; 16:77321119-77321119	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1750G>A; p.G584R; 16:77335865-77335865	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2074G>C; p.E692Q; 16:77322425-77322425	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1123C>T; p.L375F; 16:77362198-77362198	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2247G>C; p.K749N; 16:77321119-77321119	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1750G>A; p.G584R; 16:77335865-77335865	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.894C>T; p.L298L; 16:77364266-77364266	breast	carcinoma	Substitution - coding silent
c.894C>T; p.L298L; 16:77364266-77364266	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.331G>T; p.E111*; 16:77431459-77431459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1491G>A; p.E497E; 16:77353856-77353856	skin	malignant_melanoma	Substitution - coding silent
c.3150G>T; p.K1050N; 16:77293115-77293115	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2239A>G; p.T747A; 16:77321127-77321127	prostate	carcinoma	Substitution - Missense
c.1990C>T; p.R664C; 16:77325908-77325908	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1990C>T; p.R664C; 16:77325908-77325908	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1788G>A; p.S596S; 16:77335827-77335827	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1584A>C; p.K528N; 16:77353763-77353763	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.348G>A; p.A116A; 16:77431442-77431442	skin	malignant_melanoma	Substitution - coding silent
c.2969C>G; p.A990G; 16:77294960-77294960	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3319G>A; p.E1107K; 16:77291349-77291349	skin	malignant_melanoma	Substitution - Missense
c.2592G>A; p.M864I; 16:77300345-77300345	skin	malignant_melanoma	Substitution - Missense
c.1584A>C; p.K528N; 16:77353763-77353763	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.3284G>T; p.R1095I; 16:77291384-77291384	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2794C>T; p.P932S; 16:77297296-77297296	skin	malignant_melanoma	Substitution - Missense
c.854C>T; p.S285L; 16:77364306-77364306	skin	malignant_melanoma	Substitution - Missense
c.1145G>T; p.R382I; 16:77362176-77362176	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1242C>T; p.C414C; 16:77359398-77359398	liver	carcinoma	Substitution - coding silent
c.1242C>T; p.C414C; 16:77359398-77359398	liver	carcinoma	Substitution - coding silent
c.854C>T; p.S285L; 16:77364306-77364306	skin	malignant_melanoma	Substitution - Missense
c.3140G>A; p.R1047Q; 16:77293125-77293125	skin	malignant_melanoma	Substitution - Missense
c.1145G>T; p.R382I; 16:77362176-77362176	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3084G>C; p.E1028D; 16:77293181-77293181	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1242C>T; p.C414C; 16:77359398-77359398	liver	carcinoma	Substitution - coding silent
c.1242C>T; p.C414C; 16:77359398-77359398	liver	carcinoma	Substitution - coding silent
c.2802-10G>A; p.?; 16:77295137-77295137	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1949T>G; p.F650C; 16:77325949-77325949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2437C>T; p.P813S; 16:77319944-77319944	skin	malignant_melanoma	Substitution - Missense
c.521_522insC; p.E175fs*1; 16:77367697-77367698	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1731C>A; p.C577*; 16:77335884-77335884	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.70G>A; p.G24R; 16:77434626-77434626	kidney	carcinoma	Substitution - Missense
c.642C>A; p.Y214*; 16:77367577-77367577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2430G>A; p.G810G; 16:77319951-77319951	skin	malignant_melanoma	Substitution - coding silent
c.420G>C; p.V140V; 16:77431370-77431370	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.344C>T; p.S115L; 16:77431446-77431446	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3281G>A; p.R1094Q; 16:77291387-77291387	skin; shoulder	malignant_melanoma	Substitution - Missense
c.344C>T; p.S115L; 16:77431446-77431446	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.123G>T; p.S41S; 16:77434473-77434473	liver	carcinoma	Substitution - coding silent
c.3066C>T; p.A1022A; 16:77293199-77293199	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3026G>A; p.R1009Q; 16:77293239-77293239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3281G>A; p.R1094Q; 16:77291387-77291387	skin	malignant_melanoma	Substitution - Missense
c.123G>T; p.S41S; 16:77434473-77434473	liver	carcinoma	Substitution - coding silent
c.3066C>T; p.A1022A; 16:77293199-77293199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3281G>A; p.R1094Q; 16:77291387-77291387	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1969G>A; p.E657K; 16:77325929-77325929	skin; back	malignant_melanoma	Substitution - Missense
c.3228G>A; p.E1076E; 16:77291440-77291440	skin	malignant_melanoma	Substitution - coding silent
c.656G>T; p.G219V; 16:77367563-77367563	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1978A>T; p.S660C; 16:77325920-77325920	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3645G>T; p.K1215N; 16:77283977-77283977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3081C>T; p.P1027P; 16:77293184-77293184	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2581C>T; p.P861S; 16:77300356-77300356	skin	malignant_melanoma	Substitution - Missense
c.1615-8_1615-7insT; p.?; 16:77341806-77341807	liver	carcinoma	Unknown
c.2581C>T; p.P861S; 16:77300356-77300356	skin	malignant_melanoma	Substitution - Missense
c.2581C>T; p.P861S; 16:77300356-77300356	skin	malignant_melanoma	Substitution - Missense
c.1950delT; p.R651fs*51; 16:77325948-77325948	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2795C>T; p.P932L; 16:77297295-77297295	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.537G>A; p.S179S; 16:77367682-77367682	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - coding silent
c.1009G>C; p.D337H; 16:77363849-77363849	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1756C>T; p.R586W; 16:77335859-77335859	skin	malignant_melanoma	Substitution - Missense
c.1756C>T; p.R586W; 16:77335859-77335859	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2713A>C; p.N905H; 16:77297377-77297377	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1618A>G; p.I540V; 16:77341796-77341796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.600C>T; p.H200H; 16:77367619-77367619	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1380C>T; p.I460I; 16:77356020-77356020	skin	malignant_melanoma	Substitution - coding silent
c.1231A>C; p.S411R; 16:77359409-77359409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2359A>G; p.S787G; 16:77320022-77320022	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.981C>T; p.G327G; 16:77363877-77363877	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3128G>T; p.C1043F; 16:77293137-77293137	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.255G>A; p.R85R; 16:77431535-77431535	skin	malignant_melanoma	Substitution - coding silent
c.3345C>T; p.C1115C; 16:77291323-77291323	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.255G>A; p.R85R; 16:77431535-77431535	skin	malignant_melanoma	Substitution - coding silent
c.255G>A; p.R85R; 16:77431535-77431535	skin	malignant_melanoma	Substitution - coding silent
c.1223C>T; p.A408V; 16:77359417-77359417	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2953G>T; p.A985S; 16:77294976-77294976	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1106G>A; p.C369Y; 16:77362215-77362215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1231A>T; p.S411C; 16:77359409-77359409	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3290G>A; p.R1097H; 16:77291378-77291378	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2183A>G; p.E728G; 16:77321183-77321183	urinary_tract; bladder	carcinoma	Substitution - Missense
c.911A>G; p.K304R; 16:77364249-77364249	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2183A>G; p.E728G; 16:77321183-77321183	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3290G>A; p.R1097H; 16:77291378-77291378	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.433T>C; p.Y145H; 16:77431357-77431357	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.270G>A; p.A90A; 16:77431520-77431520	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1656G>C; p.R552S; 16:77341758-77341758	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1464A>C; p.T488T; 16:77353883-77353883	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3627C>A; p.Y1209*; 16:77283995-77283995	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2669delG; p.G890fs*5; 16:77300268-77300268	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2944C>G; p.Q982E; 16:77294985-77294985	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2244C>A; p.C748*; 16:77321122-77321122	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1230C>A; p.I410I; 16:77359410-77359410	pancreas	carcinoma	Substitution - coding silent
c.3573C>A; p.F1191L; 16:77284049-77284049	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1395G>A; p.L465L; 16:77356005-77356005	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - coding silent
c.727T>A; p.Y243N; 16:77367492-77367492	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3067G>A; p.A1023T; 16:77293198-77293198	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3067G>A; p.A1023T; 16:77293198-77293198	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1398C>T; p.T466T; 16:77356002-77356002	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.529C>T; p.L177F; 16:77367690-77367690	skin	malignant_melanoma	Substitution - Missense
c.2179C>T; p.H727Y; 16:77321187-77321187	skin	malignant_melanoma	Substitution - Missense
c.1351A>G; p.N451D; 16:77356049-77356049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2042G>A; p.R681Q; 16:77322457-77322457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2797G>T; p.A933S; 16:77297293-77297293	liver	carcinoma	Substitution - Missense
c.268G>A; p.A90T; 16:77431522-77431522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3087C>T; p.S1029S; 16:77293178-77293178	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.395C>A; p.A132D; 16:77431395-77431395	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.37G>C; p.A13P; 16:77434659-77434659	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.2320G>A; p.A774T; 16:77320061-77320061	breast	carcinoma	Substitution - Missense
c.3188A>G; p.E1063G; 16:77293077-77293077	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.774G>T; p.K258N; 16:77367445-77367445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1285G>A; p.G429S; 16:77359355-77359355	skin	malignant_melanoma	Substitution - Missense
c.2265C>T; p.Y755Y; 16:77321101-77321101	skin	malignant_melanoma	Substitution - coding silent
c.1068G>A; p.L356L; 16:77362253-77362253	skin	malignant_melanoma	Substitution - coding silent
c.2554C>T; p.P852S; 16:77300383-77300383	skin	malignant_melanoma	Substitution - Missense
c.1418C>A; p.S473*; 16:77355982-77355982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1057-2A>C; p.?; 16:77362266-77362266	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2666G>T; p.C889F; 16:77300271-77300271	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2686G>A; p.V896I; 16:77297404-77297404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2782G>T; p.A928S; 16:77297308-77297308	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.235G>C; p.D79H; 16:77431555-77431555	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1354C>T; p.P452S; 16:77356046-77356046	skin	malignant_melanoma	Substitution - Missense
c.2690A>G; p.K897R; 16:77297400-77297400	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.646_657del12; p.G216_G219del; 16:77367562-77367573	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.1354C>T; p.P452S; 16:77356046-77356046	skin	malignant_melanoma	Substitution - Missense
c.2617delA; p.R873fs*22; 16:77300320-77300320	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1354C>T; p.P452S; 16:77356046-77356046	skin; arm	malignant_melanoma	Substitution - Missense
c.623A>T; p.E208V; 16:77367596-77367596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1354C>T; p.P452S; 16:77356046-77356046	skin; arm	malignant_melanoma	Substitution - Missense
c.1118C>A; p.S373Y; 16:77362203-77362203	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3070G>A; p.E1024K; 16:77293195-77293195	skin	malignant_melanoma	Substitution - Missense
c.3103C>T; p.P1035S; 16:77293162-77293162	skin; ankle	malignant_melanoma	Substitution - Missense
c.2447G>A; p.G816E; 16:77319934-77319934	skin	malignant_melanoma	Substitution - Missense
c.2497G>A; p.A833T; 16:77319884-77319884	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1909C>G; p.L637V; 16:77325989-77325989	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.982C>A; p.L328I; 16:77363876-77363876	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3146C>T; p.P1049L; 16:77293119-77293119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1285G>T; p.G429C; 16:77359355-77359355	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3146C>T; p.P1049L; 16:77293119-77293119	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2963G>A; p.S988N; 16:77294966-77294966	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2111G>T; p.G704V; 16:77322388-77322388	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.467_468delCT; p.S156fs*19; 16:77431322-77431323	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1058G>A; p.G353E; 16:77362263-77362263	skin	malignant_melanoma	Substitution - Missense
c.1497G>A; p.K499K; 16:77353850-77353850	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.777A>T; p.K259N; 16:77367442-77367442	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1058G>A; p.G353E; 16:77362263-77362263	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1480C>A; p.L494I; 16:77353867-77353867	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.526T>A; p.F176I; 16:77367693-77367693	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1058G>A; p.G353E; 16:77362263-77362263	skin	malignant_melanoma	Substitution - Missense
c.1435C>T; p.R479C; 16:77355965-77355965	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1779C>T; p.S593S; 16:77335836-77335836	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.815G>A; p.R272K; 16:77364345-77364345	skin	malignant_melanoma	Substitution - Missense
c.1118C>T; p.S373F; 16:77362203-77362203	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1118C>T; p.S373F; 16:77362203-77362203	large_intestine; colon	carcinoma	Substitution - Missense
c.2041C>T; p.R681*; 16:77322458-77322458	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3084G>A; p.E1028E; 16:77293181-77293181	breast	carcinoma	Substitution - coding silent
c.1890T>G; p.G630G; 16:77326008-77326008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.769C>T; p.R257C; 16:77367450-77367450	skin	malignant_melanoma	Substitution - Missense
c.1455C>T; p.F485F; 16:77355945-77355945	skin	malignant_melanoma	Substitution - coding silent
c.835T>C; p.S279P; 16:77364325-77364325	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2332G>A; p.E778K; 16:77320049-77320049	skin	malignant_melanoma	Substitution - Missense
c.212C>T; p.S71L; 16:77431578-77431578	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1342G>A; p.G448R; 16:77356058-77356058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3556C>T; p.P1186S; 16:77284066-77284066	skin; knee	malignant_melanoma	Substitution - Missense
c.1342G>A; p.G448R; 16:77356058-77356058	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2318G>A; p.G773D; 16:77320063-77320063	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1876T>A; p.L626I; 16:77326022-77326022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2404G>A; p.G802R; 16:77319977-77319977	liver	carcinoma	Substitution - Missense
c.1876T>A; p.L626I; 16:77326022-77326022	thyroid	other; neoplasm	Substitution - Missense
c.2429_2430GG>AA; p.G810E; 16:77319951-77319952	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1272G>A; p.E424E; 16:77359368-77359368	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.941T>A; p.V314D; 16:77364219-77364219	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2331C>T; p.I777I; 16:77320050-77320050	breast	carcinoma	Substitution - coding silent
c.1171G>A; p.G391R; 16:77362150-77362150	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.2558_2559GG>AA; p.G853E; 16:77300378-77300379	skin	malignant_melanoma	Substitution - Missense
c.3267A>G; p.I1089M; 16:77291401-77291401	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2085_2086insT; p.A696fs*18; 16:77322413-77322414	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2384G>A; p.S795N; 16:77319997-77319997	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2085_2086insT; p.A696fs*18; 16:77322413-77322414	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1684G>A; p.E562K; 16:77341730-77341730	breast	carcinoma	Substitution - Missense
c.2085_2086insT; p.A696fs*18; 16:77322413-77322414	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1366G>A; p.A456T; 16:77356034-77356034	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3520A>G; p.T1174A; 16:77289294-77289294	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2009G>A; p.W670*; 16:77325889-77325889	skin	malignant_melanoma	Substitution - Nonsense
c.676G>T; p.G226C; 16:77367543-77367543	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.816G>A; p.R272R; 16:77364344-77364344	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3118C>A; p.Q1040K; 16:77293147-77293147	haematopoietic_and_lymphoid_tissue; breast	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1704G>C; p.L568F; 16:77341710-77341710	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1779C>A; p.S593S; 16:77335836-77335836	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.947C>A; p.T316K; 16:77364213-77364213	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1103T>C; p.F368S; 16:77362218-77362218	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3373G>C; p.A1125P; 16:77291295-77291295	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2732C>T; p.S911L; 16:77297358-77297358	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.716G>T; p.R239L; 16:77367503-77367503	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1145G>A; p.R382K; 16:77362176-77362176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.202G>C; p.E68Q; 16:77431588-77431588	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3476G>C; p.S1159T; 16:77289338-77289338	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.165C>A; p.S55R; 16:77434431-77434431	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3476G>C; p.S1159T; 16:77289338-77289338	thyroid	other; neoplasm	Substitution - Missense
c.3476G>C; p.S1159T; 16:77289338-77289338	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1145G>A; p.R382K; 16:77362176-77362176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2640C>T; p.I880I; 16:77300297-77300297	skin	malignant_melanoma	Substitution - coding silent
c.1048C>A; p.Q350K; 16:77363810-77363810	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2689A>C; p.K897Q; 16:77297401-77297401	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.136T>C; p.L46L; 16:77434460-77434460	skin	malignant_melanoma	Substitution - coding silent
c.22G>A; p.A8T; 16:77434674-77434674	pancreas	carcinoma	Substitution - Missense
c.2443G>A; p.A815T; 16:77319938-77319938	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2468G>A; p.R823H; 16:77319913-77319913	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1150G>A; p.D384N; 16:77362171-77362171	skin	malignant_melanoma	Substitution - Missense
c.2468G>A; p.R823H; 16:77319913-77319913	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1039C>A; p.L347I; 16:77363819-77363819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.230C>T; p.S77L; 16:77431560-77431560	skin	malignant_melanoma	Substitution - Missense
c.2480G>A; p.R827H; 16:77319901-77319901	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2010G>A; p.W670*; 16:77325888-77325888	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2305C>A; p.L769I; 16:77320076-77320076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1282C>T; p.L428F; 16:77359358-77359358	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.464C>T; p.S155F; 16:77431326-77431326	breast	carcinoma	Substitution - Missense
c.2655C>T; p.C885C; 16:77300282-77300282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3045A>G; p.E1015E; 16:77293220-77293220	skin	malignant_melanoma	Substitution - coding silent
c.3393G>A; p.P1131P; 16:77291275-77291275	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1802G>T; p.C601F; 16:77335813-77335813	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3665G>A; p.1222; 16:77283957-77283957	skin	malignant_melanoma	Substitution - coding silent
c.1689G>A; p.G563G; 16:77341725-77341725	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1687G>A; p.G563R; 16:77341727-77341727	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3564C>A; p.C1188*; 16:77284058-77284058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1369G>T; p.E457*; 16:77356031-77356031	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3564C>A; p.C1188*; 16:77284058-77284058	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.851G>A; p.R284K; 16:77364309-77364309	skin; back	malignant_melanoma	Substitution - Missense
c.2985G>T; p.W995C; 16:77294944-77294944	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3539C>T; p.P1180L; 16:77289275-77289275	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.348G>C; p.A116A; 16:77431442-77431442	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3364A>G; p.N1122D; 16:77291304-77291304	skin	malignant_melanoma	Substitution - Missense
c.2599A>C; p.T867P; 16:77300338-77300338	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2599A>C; p.T867P; 16:77300338-77300338	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2599A>C; p.T867P; 16:77300338-77300338	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2599A>C; p.T867P; 16:77300338-77300338	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.39T>A; p.A13A; 16:77434657-77434657	pancreas	NS	Substitution - coding silent
c.2599A>C; p.T867P; 16:77300338-77300338	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2599A>C; p.T867P; 16:77300338-77300338	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2077T>A; p.F693I; 16:77322422-77322422	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1835A>G; p.Q612R; 16:77335780-77335780	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.736C>T; p.R246*; 16:77367483-77367483	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.654C>T; p.P218P; 16:77367565-77367565	thyroid	carcinoma	Substitution - coding silent
c.1364A>C; p.K455T; 16:77356036-77356036	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.40G>A; p.A14T; 16:77434656-77434656	kidney	carcinoma	Substitution - Missense
c.2766G>A; p.E922E; 16:77297324-77297324	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1449G>A; p.K483K; 16:77355951-77355951	skin	malignant_melanoma	Substitution - coding silent
c.2627A>T; p.Y876F; 16:77300310-77300310	breast	carcinoma	Substitution - Missense
c.2228G>T; p.G743V; 16:77321138-77321138	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.903A>T; p.A301A; 16:77364257-77364257	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3079C>T; p.P1027S; 16:77293186-77293186	skin	malignant_melanoma	Substitution - Missense
c.3187G>A; p.E1063K; 16:77293078-77293078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2530G>A; p.E844K; 16:77319851-77319851	skin	malignant_melanoma	Substitution - Missense
c.2888C>T; p.P963L; 16:77295041-77295041	skin	malignant_melanoma	Substitution - Missense
c.2069A>G; p.N690S; 16:77322430-77322430	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.970A>T; p.M324L; 16:77364190-77364190	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2475C>A; p.F825L; 16:77319906-77319906	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2883G>T; p.K961N; 16:77295046-77295046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811C>A; p.L271I; 16:77364349-77364349	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2321C>G; p.A774G; 16:77320060-77320060	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1418C>T; p.S473L; 16:77355982-77355982	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]