Entrez Gene

Basic Information
Gene ID	5310
Name	PKD1
Synonymous	polycystic kidney disease 1 (autosomal dominant);PKD1;polycystic kidney disease 1 (autosomal dominant)
Definition	autosomal dominant polycystic kidney disease 1 protein\|polycystic kidney disease-associated protein\|polycystin 1\|polycystin-1\|transient receptor potential cation channel, subfamily P, member 1
Position	16p13.3
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 0.05.

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.2102C>A; p.T701N; 16:2114921-2114921	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2882C>A; p.S961*; 16:2113264-2113264	skin	malignant_melanoma	Substitution - Nonsense
c.11321G>T; p.G3774V; 16:2092137-2092137	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2102C>A; p.T701N; 16:2114921-2114921	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4913T>G; p.V1638G; 16:2110254-2110254	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2102C>A; p.T701N; 16:2114921-2114921	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.12782G>A; p.G4261D; 16:2089857-2089857	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2102C>A; p.T701N; 16:2114921-2114921	skin; extremity	malignant_melanoma	Substitution - Missense
c.2102C>A; p.T701N; 16:2114921-2114921	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.4480C>T; p.R1494C; 16:2110687-2110687	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3747C>T; p.D1249D; 16:2111420-2111420	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.12325C>T; p.R4109C; 16:2090404-2090404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12325C>T; p.R4109C; 16:2090404-2090404	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7708T>C; p.L2570L; 16:2106020-2106020	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.8087T>G; p.L2696R; 16:2104572-2104572	thyroid	other; neoplasm	Substitution - Missense
c.8087T>G; p.L2696R; 16:2104572-2104572	skin; extremity	malignant_melanoma	Substitution - Missense
c.8087T>G; p.L2696R; 16:2104572-2104572	skin; trunk	malignant_melanoma	Substitution - Missense
c.6145G>A; p.E2049K; 16:2109022-2109022	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8087T>G; p.L2696R; 16:2104572-2104572	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9169G>A; p.V3057M; 16:2102413-2102413	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2825A>T; p.E942V; 16:2114198-2114198	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8580G>C; p.Q2860H; 16:2103477-2103477	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6704C>A; p.S2235*; 16:2108463-2108463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4674G>A; p.T1558T; 16:2110493-2110493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.12141C>T; p.L4047L; 16:2090588-2090588	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4569C>T; p.F1523F; 16:2110598-2110598	skin	malignant_melanoma	Substitution - coding silent
c.6022T>G; p.F2008V; 16:2109145-2109145	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2058C>T; p.F686F; 16:2115417-2115417	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6630C>T; p.D2210D; 16:2108537-2108537	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9036G>A; p.T3012T; 16:2102546-2102546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6046G>A; p.D2016N; 16:2109121-2109121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7637A>G; p.H2546R; 16:2106157-2106157	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3013G>A; p.V1005I; 16:2112936-2112936	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3013G>A; p.V1005I; 16:2112936-2112936	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.10281G>A; p.P3427P; 16:2097443-2097443	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.12448C>T; p.R4150C; 16:2090191-2090191	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3035C>T; p.T1012I; 16:2112914-2112914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7273G>A; p.G2425S; 16:2106614-2106614	skin; extremity	malignant_melanoma	Substitution - Missense
c.2503C>T; p.R835C; 16:2114520-2114520	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7222C>T; p.R2408C; 16:2106665-2106665	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6846C>T; p.Y2282Y; 16:2108321-2108321	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.12007G>A; p.A4003T; 16:2090805-2090805	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8117C>T; p.T2706I; 16:2104542-2104542	skin	malignant_melanoma	Substitution - Missense
c.12453C>G; p.H4151Q; 16:2090186-2090186	breast	carcinoma	Substitution - Missense
c.11370T>C; p.N3790N; 16:2092088-2092088	stomach	adenocarcinoma	Substitution - coding silent
c.9195G>C; p.V3065V; 16:2102387-2102387	thyroid	other; neoplasm	Substitution - coding silent
c.7821C>T; p.H2607H; 16:2105907-2105907	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4481G>A; p.R1494H; 16:2110686-2110686	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6090C>T; p.P2030P; 16:2109077-2109077	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4842G>C; p.E1614D; 16:2110325-2110325	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4481G>A; p.R1494H; 16:2110686-2110686	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4513G>T; p.G1505C; 16:2110654-2110654	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8741G>A; p.S2914N; 16:2103316-2103316	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9517C>T; p.P3173S; 16:2100447-2100447	skin	malignant_melanoma	Substitution - Missense
c.7928G>A; p.R2643H; 16:2105410-2105410	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.9517C>T; p.P3173S; 16:2100447-2100447	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9668C>T; p.T3223M; 16:2100210-2100210	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10941G>A; p.R3647R; 16:2093619-2093619	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.12606C>T; p.G4202G; 16:2090033-2090033	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4267C>T; p.P1423S; 16:2110900-2110900	skin	malignant_melanoma	Substitution - Missense
c.3685G>A; p.V1229M; 16:2111482-2111482	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.12800G>A; p.R4267Q; 16:2089839-2089839	skin	malignant_melanoma	Substitution - Missense
c.3907G>A; p.A1303T; 16:2111260-2111260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.12747C>T; p.R4249R; 16:2089892-2089892	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3907G>A; p.A1303T; 16:2111260-2111260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.12800G>A; p.R4267Q; 16:2089839-2089839	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.11078C>T; p.S3693L; 16:2093032-2093032	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3324T>G; p.S1108S; 16:2111843-2111843	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.11078C>T; p.S3693L; 16:2093032-2093032	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.5800delC; p.R1935fs*14; 16:2109367-2109367	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4609G>A; p.E1537K; 16:2110558-2110558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4757A>T; p.D1586V; 16:2110410-2110410	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1714C>T; p.P572S; 16:2116537-2116537	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.11914C>T; p.R3972C; 16:2090973-2090973	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.9873_9874CC>TT; p.(=); 16:2099910-2099911	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2718G>T; p.E906D; 16:2114305-2114305	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8409C>T; p.G2803G; 16:2103648-2103648	skin	malignant_melanoma	Substitution - coding silent
c.11209G>T; p.G3737W; 16:2092540-2092540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.12429C>G; p.L4143L; 16:2090300-2090300	breast	carcinoma	Substitution - coding silent
c.3370G>A; p.A1124T; 16:2111797-2111797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.11984T>A; p.L3995H; 16:2090903-2090903	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4719G>T; p.E1573D; 16:2110448-2110448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12061C>G; p.R4021G; 16:2090751-2090751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6554A>G; p.Y2185C; 16:2108613-2108613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6523C>A; p.L2175M; 16:2108644-2108644	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4433G>C; p.G1478A; 16:2110734-2110734	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.921C>T; p.F307F; 16:2118071-2118071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4220C>T; p.P1407L; 16:2110947-2110947	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947C>T; p.A316V; 16:2118045-2118045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1262G>A; p.R421H; 16:2117612-2117612	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10039T>C; p.S3347P; 16:2099655-2099655	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12190G>A; p.V4064M; 16:2090539-2090539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5177C>T; p.S1726F; 16:2109990-2109990	pancreas	carcinoma	Substitution - Missense
c.5177C>T; p.S1726F; 16:2109990-2109990	pancreas	carcinoma	Substitution - Missense
c.5177C>T; p.S1726F; 16:2109990-2109990	pancreas	carcinoma	Substitution - Missense
c.3865G>T; p.V1289L; 16:2111302-2111302	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.10138T>C; p.F3380L; 16:2097897-2097897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2733G>T; p.V911V; 16:2114290-2114290	central_nervous_system; brain	glioma	Substitution - coding silent
c.4395C>T; p.P1465P; 16:2110772-2110772	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.12657C>T; p.F4219F; 16:2089982-2089982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8851C>T; p.R2951W; 16:2102911-2102911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8210C>T; p.S2737L; 16:2103847-2103847	skin	malignant_melanoma	Substitution - Missense
c.1091C>T; p.P364L; 16:2117901-2117901	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3127G>A; p.V1043M; 16:2112822-2112822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4845C>T; p.N1615N; 16:2110322-2110322	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.7263C>T; p.T2421T; 16:2106624-2106624	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	thyroid	other; neoplasm	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5579delG; p.G1860fs*89; 16:2109588-2109588	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	thyroid	other; neoplasm	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216G>A; p.R739Q; 16:2114807-2114807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.934G>C; p.A312P; 16:2118058-2118058	urinary_tract; bladder	carcinoma	Substitution - Missense
c.12253C>A; p.L4085M; 16:2090476-2090476	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4830C>T; p.I1610I; 16:2110337-2110337	skin	malignant_melanoma	Substitution - coding silent
c.6017_6018GG>AA; p.W2006*; 16:2109149-2109150	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.9994G>T; p.V3332F; 16:2099700-2099700	urinary_tract; bladder	carcinoma	Substitution - Missense
c.8408G>T; p.G2803V; 16:2103649-2103649	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2081C>T; p.P694L; 16:2115394-2115394	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7210-1G>A; p.?; 16:2106678-2106678	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.8219G>A; p.G2740E; 16:2103838-2103838	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4934C>T; p.P1645L; 16:2110233-2110233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6598C>T; p.R2200C; 16:2108569-2108569	thyroid	other; neoplasm	Substitution - Missense
c.2081C>T; p.P694L; 16:2115394-2115394	breast	carcinoma	Substitution - Missense
c.10326G>A; p.A3442A; 16:2097398-2097398	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.10974G>T; p.K3658N; 16:2093586-2093586	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7522C>T; p.L2508L; 16:2106272-2106272	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.10974G>T; p.K3658N; 16:2093586-2093586	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4313C>T; p.P1438L; 16:2110854-2110854	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3384C>T; p.S1128S; 16:2111783-2111783	skin	malignant_melanoma	Substitution - coding silent
c.1282G>A; p.A428T; 16:2117592-2117592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.364C>T; p.L122L; 16:2118841-2118841	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.5324G>A; p.G1775D; 16:2109843-2109843	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2814G>T; p.T938T; 16:2114209-2114209	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5326C>A; p.L1776M; 16:2109841-2109841	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7417G>A; p.G2473R; 16:2106470-2106470	skin	malignant_melanoma	Substitution - Missense
c.2671G>A; p.D891N; 16:2114352-2114352	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5877C>T; p.A1959A; 16:2109290-2109290	skin	malignant_melanoma	Substitution - coding silent
c.6550G>A; p.E2184K; 16:2108617-2108617	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4062G>A; p.T1354T; 16:2111105-2111105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8236C>T; p.R2746W; 16:2103821-2103821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8788G>T; p.D2930Y; 16:2103269-2103269	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4091G>A; p.R1364H; 16:2111076-2111076	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1353C>T; p.A451A; 16:2117521-2117521	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.10488G>A; p.L3496L; 16:2097159-2097159	liver	carcinoma	Substitution - coding silent
c.3502C>T; p.P1168S; 16:2111665-2111665	breast	carcinoma	Substitution - Missense
c.10488G>A; p.L3496L; 16:2097159-2097159	liver	carcinoma	Substitution - coding silent
c.12248C>T; p.S4083L; 16:2090481-2090481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3031G>C; p.V1011L; 16:2112918-2112918	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4546G>A; p.A1516T; 16:2110621-2110621	breast	carcinoma	Substitution - Missense
c.328A>T; p.I110L; 16:2119145-2119145	skin	malignant_melanoma	Substitution - Missense
c.10775G>T; p.S3592I; 16:2093857-2093857	breast	carcinoma	Substitution - Missense
c.9898G>A; p.G3300R; 16:2099886-2099886	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6096C>T; p.A2032A; 16:2109071-2109071	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4538T>G; p.V1513G; 16:2110629-2110629	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.11015G>A; p.R3672Q; 16:2093545-2093545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6658C>T; p.R2220W; 16:2108509-2108509	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.12651C>T; p.A4217A; 16:2089988-2089988	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2416G>A; p.V806M; 16:2114607-2114607	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6658C>T; p.R2220W; 16:2108509-2108509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2420C>T; p.S807F; 16:2114603-2114603	skin	malignant_melanoma	Substitution - Missense
c.8247G>A; p.A2749A; 16:2103810-2103810	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7820A>T; p.H2607L; 16:2105908-2105908	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.7820A>T; p.H2607L; 16:2105908-2105908	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.8942C>T; p.S2981F; 16:2102820-2102820	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11313G>A; p.S3771S; 16:2092145-2092145	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.7066-1G>C; p.?; 16:2106949-2106949	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.2764C>A; p.L922I; 16:2114259-2114259	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8385C>T; p.C2795C; 16:2103672-2103672	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7381G>A; p.A2461T; 16:2106506-2106506	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7210-8G>A; p.?; 16:2106685-2106685	ovary	other; neoplasm	Unknown
c.8040C>G; p.C2680W; 16:2104619-2104619	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3735C>T; p.F1245F; 16:2111432-2111432	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6769G>T; p.V2257L; 16:2108398-2108398	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7210-8G>A; p.?; 16:2106685-2106685	ovary	other; neoplasm	Unknown
c.4895T>C; p.I1632T; 16:2110272-2110272	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2841G>A; p.Q947Q; 16:2114182-2114182	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4603C>T; p.R1535C; 16:2110564-2110564	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3323C>G; p.S1108C; 16:2111844-2111844	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5657C>T; p.P1886L; 16:2109510-2109510	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2700G>A; p.P900P; 16:2114323-2114323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.10136C>T; p.S3379F; 16:2097899-2097899	skin	malignant_melanoma	Substitution - Missense
c.8865C>G; p.H2955Q; 16:2102897-2102897	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11245C>A; p.L3749M; 16:2092504-2092504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8032C>T; p.L2678F; 16:2104627-2104627	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6281G>T; p.W2094L; 16:2108886-2108886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8027G>T; p.R2676M; 16:2104632-2104632	skin	malignant_melanoma	Substitution - Missense
c.8986T>C; p.S2996P; 16:2102596-2102596	breast	carcinoma	Substitution - Missense
c.10531C>G; p.L3511V; 16:2094179-2094179	breast	carcinoma	Substitution - Missense
c.9411C>T; p.H3137H; 16:2100553-2100553	liver	carcinoma	Substitution - coding silent
c.9153C>T; p.F3051F; 16:2102429-2102429	breast	carcinoma	Substitution - coding silent
c.7588G>T; p.G2530C; 16:2106206-2106206	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9411C>T; p.H3137H; 16:2100553-2100553	liver	carcinoma	Substitution - coding silent
c.5825G>A; p.R1942H; 16:2109342-2109342	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.6243C>T; p.A2081A; 16:2108924-2108924	skin	malignant_melanoma	Substitution - coding silent
c.11376G>C; p.S3792S; 16:2092082-2092082	breast	carcinoma	Substitution - coding silent
c.7487C>T; p.T2496M; 16:2106400-2106400	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.11092G>T; p.A3698S; 16:2093018-2093018	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9438C>A; p.D3146E; 16:2100526-2100526	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2494delC; p.R832fs*66; 16:2114529-2114529	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.882C>T; p.I294I; 16:2118110-2118110	skin	malignant_melanoma	Substitution - coding silent
c.7441C>T; p.L2481L; 16:2106446-2106446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7441C>T; p.L2481L; 16:2106446-2106446	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4639C>T; p.R1547C; 16:2110528-2110528	thyroid	carcinoma	Substitution - Missense
c.6861G>A; p.E2287E; 16:2108306-2108306	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.11074G>A; p.A3692T; 16:2093036-2093036	pancreas	carcinoma	Substitution - Missense
c.4663G>A; p.A1555T; 16:2110504-2110504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8324C>T; p.T2775M; 16:2103733-2103733	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2738T>C; p.V913A; 16:2114285-2114285	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.10749C>T; p.G3583G; 16:2093883-2093883	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6196C>G; p.L2066V; 16:2108971-2108971	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.8424C>T; p.I2808I; 16:2103633-2103633	skin	malignant_melanoma	Substitution - coding silent
c.5710C>A; p.L1904M; 16:2109457-2109457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3668T>C; p.V1223A; 16:2111499-2111499	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.10932C>T; p.P3644P; 16:2093628-2093628	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3736G>A; p.D1246N; 16:2111431-2111431	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9816T>G; p.R3272R; 16:2099968-2099968	breast	carcinoma	Substitution - coding silent
c.3275T>C; p.M1092T; 16:2112360-2112360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.12039C>T; p.S4013S; 16:2090773-2090773	prostate	carcinoma	Substitution - coding silent
c.3275T>C; p.M1092T; 16:2112360-2112360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.12033G>A; p.Q4011Q; 16:2090779-2090779	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5221G>A; p.E1741K; 16:2109946-2109946	pancreas	carcinoma	Substitution - Missense
c.3684C>T; p.P1228P; 16:2111483-2111483	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.970C>T; p.R324C; 16:2118022-2118022	skin	malignant_melanoma	Substitution - Missense
c.7837T>C; p.L2613L; 16:2105891-2105891	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8397C>T; p.A2799A; 16:2103660-2103660	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2559C>T; p.A853A; 16:2114464-2114464	pancreas	carcinoma	Substitution - coding silent
c.11261T>C; p.L3754P; 16:2092488-2092488	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7837T>C; p.L2613L; 16:2105891-2105891	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.7837T>C; p.L2613L; 16:2105891-2105891	central_nervous_system; brain	glioma	Substitution - coding silent
c.10308G>A; p.Q3436Q; 16:2097416-2097416	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.10308G>A; p.Q3436Q; 16:2097416-2097416	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.9133A>C; p.T3045P; 16:2102449-2102449	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9133A>C; p.T3045P; 16:2102449-2102449	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9133A>C; p.T3045P; 16:2102449-2102449	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5812C>T; p.H1938Y; 16:2109355-2109355	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.9133A>C; p.T3045P; 16:2102449-2102449	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9133A>C; p.T3045P; 16:2102449-2102449	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10678G>A; p.G3560R; 16:2093954-2093954	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.9133A>C; p.T3045P; 16:2102449-2102449	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9133A>C; p.T3045P; 16:2102449-2102449	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10041C>T; p.S3347S; 16:2099653-2099653	skin	malignant_melanoma	Substitution - coding silent
c.5812C>T; p.H1938Y; 16:2109355-2109355	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.9133A>C; p.T3045P; 16:2102449-2102449	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9133A>C; p.T3045P; 16:2102449-2102449	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4610A>G; p.E1537G; 16:2110557-2110557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2806C>T; p.R936C; 16:2114217-2114217	skin	malignant_melanoma	Substitution - Missense
c.8780C>T; p.T2927M; 16:2103277-2103277	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.12376G>A; p.D4126N; 16:2090353-2090353	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5606C>T; p.S1869F; 16:2109561-2109561	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10535C>T; p.A3512V; 16:2094175-2094175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.11115C>A; p.I3705I; 16:2092995-2092995	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6330C>T; p.A2110A; 16:2108837-2108837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1972G>T; p.A658S; 16:2115503-2115503	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3333C>T; p.F1111F; 16:2111834-2111834	central_nervous_system; brain	glioma	Substitution - coding silent
c.4642G>A; p.V1548M; 16:2110525-2110525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.11347G>A; p.V3783I; 16:2092111-2092111	breast	carcinoma	Substitution - Missense
c.8969G>A; p.S2990N; 16:2102613-2102613	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4545C>T; p.H1515H; 16:2110622-2110622	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5819T>C; p.F1940S; 16:2109348-2109348	pancreas	carcinoma	Substitution - Missense
c.12409C>T; p.L4137L; 16:2090320-2090320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.12409C>T; p.L4137L; 16:2090320-2090320	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.5290G>C; p.E1764Q; 16:2109877-2109877	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.10325C>T; p.A3442V; 16:2097399-2097399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12409C>T; p.L4137L; 16:2090320-2090320	breast	carcinoma	Substitution - coding silent
c.12016C>T; p.L4006L; 16:2090796-2090796	skin	malignant_melanoma	Substitution - coding silent
c.1964C>T; p.P655L; 16:2115511-2115511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9106A>C; p.T3036P; 16:2102476-2102476	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5625C>T; p.V1875V; 16:2109542-2109542	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.9106A>C; p.T3036P; 16:2102476-2102476	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9106A>C; p.T3036P; 16:2102476-2102476	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3900A>G; p.E1300E; 16:2111267-2111267	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2880C>T; p.G960G; 16:2113266-2113266	skin	malignant_melanoma	Substitution - coding silent
c.10121C>T; p.S3374F; 16:2097914-2097914	skin	malignant_melanoma	Substitution - Missense
c.2730C>T; p.D910D; 16:2114293-2114293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7804C>T; p.Q2602*; 16:2105924-2105924	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.9196T>C; p.F3066L; 16:2102386-2102386	thyroid	other; neoplasm	Substitution - Missense
c.6211T>A; p.C2071S; 16:2108956-2108956	liver	carcinoma	Substitution - Missense
c.922G>A; p.G308R; 16:2118070-2118070	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7165T>C; p.L2389L; 16:2106849-2106849	thyroid	other; neoplasm	Substitution - coding silent
c.922G>A; p.G308R; 16:2118070-2118070	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3408C>T; p.G1136G; 16:2111759-2111759	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.12133A>G; p.I4045V; 16:2090679-2090679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2866G>A; p.V956M; 16:2113280-2113280	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.11454C>T; p.G3818G; 16:2091864-2091864	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3074C>T; p.S1025F; 16:2112875-2112875	skin	malignant_melanoma	Substitution - Missense
c.6982G>A; p.E2328K; 16:2107966-2107966	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1119C>T; p.L373L; 16:2117873-2117873	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1119C>T; p.L373L; 16:2117873-2117873	thyroid	other; neoplasm	Substitution - coding silent
c.5401C>T; p.P1801S; 16:2109766-2109766	skin	malignant_melanoma	Substitution - Missense
c.817_818CC>TT; p.P273L; 16:2118174-2118175	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6066G>A; p.S2022S; 16:2109101-2109101	skin	malignant_melanoma	Substitution - coding silent
c.4574T>G; p.V1525G; 16:2110593-2110593	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8931C>T; p.T2977T; 16:2102831-2102831	skin	malignant_melanoma	Substitution - coding silent
c.6870C>T; p.D2290D; 16:2108297-2108297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1367T>C; p.L456P; 16:2117507-2117507	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.12222G>A; p.L4074L; 16:2090507-2090507	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8510G>C; p.G2837A; 16:2103547-2103547	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.10958C>T; p.A3653V; 16:2093602-2093602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8536A>G; p.T2846A; 16:2103521-2103521	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4034T>G; p.V1345G; 16:2111133-2111133	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.11158T>G; p.S3720A; 16:2092591-2092591	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.5648C>T; p.A1883V; 16:2109519-2109519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.906C>A; p.A302A; 16:2118086-2118086	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2738T>G; p.V913G; 16:2114285-2114285	urinary_tract; bladder	carcinoma	Substitution - Missense
c.11252A>T; p.Q3751L; 16:2092497-2092497	urinary_tract; bladder	carcinoma	Substitution - Missense
c.10560G>C; p.G3520G; 16:2094150-2094150	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.12346G>A; p.E4116K; 16:2090383-2090383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2738T>G; p.V913G; 16:2114285-2114285	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4110C>A; p.Y1370*; 16:2111057-2111057	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.7501G>C; p.A2501P; 16:2106293-2106293	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7501G>C; p.A2501P; 16:2106293-2106293	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4402G>A; p.V1468I; 16:2110765-2110765	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.11092G>A; p.A3698T; 16:2093018-2093018	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.996C>T; p.H332H; 16:2117996-2117996	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6763C>T; p.R2255C; 16:2108404-2108404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3701C>T; p.A1234V; 16:2111466-2111466	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.12093G>T; p.L4031F; 16:2090719-2090719	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2087C>T; p.A696V; 16:2115388-2115388	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.12690C>T; p.N4230N; 16:2089949-2089949	central_nervous_system; brain	glioma	Substitution - coding silent
c.11202C>T; p.Y3734Y; 16:2092547-2092547	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.6543C>A; p.Y2181*; 16:2108624-2108624	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Nonsense
c.3320C>T; p.A1107V; 16:2111847-2111847	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1635C>T; p.L545L; 16:2116616-2116616	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.9330T>C; p.P3110P; 16:2102128-2102128	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2864C>T; p.P955L; 16:2113282-2113282	skin	malignant_melanoma	Substitution - Missense
c.9330T>C; p.P3110P; 16:2102128-2102128	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.5065G>A; p.E1689K; 16:2110102-2110102	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6036G>A; p.K2012K; 16:2109131-2109131	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.9330T>C; p.P3110P; 16:2102128-2102128	breast	carcinoma	Substitution - coding silent
c.12537C>T; p.S4179S; 16:2090102-2090102	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.8937C>T; p.F2979F; 16:2102825-2102825	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.9330T>C; p.P3110P; 16:2102128-2102128	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.10619-2A>G; p.?; 16:2094015-2094015	stomach	carcinoma; adenocarcinoma	Unknown
c.10808G>C; p.W3603S; 16:2093824-2093824	breast	carcinoma	Substitution - Missense
c.3111A>G; p.L1037L; 16:2112838-2112838	breast	carcinoma	Substitution - coding silent
c.7710G>T; p.L2570F; 16:2106018-2106018	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.12176C>T; p.A4059V; 16:2090553-2090553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3008G>A; p.S1003N; 16:2112941-2112941	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7875C>A; p.A2625A; 16:2105463-2105463	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5909C>T; p.A1970V; 16:2109258-2109258	skin	malignant_melanoma	Substitution - Missense
c.7913A>G; p.H2638R; 16:2105425-2105425	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.7875C>A; p.A2625A; 16:2105463-2105463	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.8325G>C; p.T2775T; 16:2103732-2103732	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.6586C>T; p.Q2196*; 16:2108581-2108581	breast	carcinoma	Substitution - Nonsense
c.7913A>G; p.H2638R; 16:2105425-2105425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6181G>A; p.V2061I; 16:2108986-2108986	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7913A>G; p.H2638R; 16:2105425-2105425	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7594C>T; p.L2532F; 16:2106200-2106200	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5139C>G; p.D1713E; 16:2110028-2110028	pancreas	carcinoma	Substitution - Missense
c.5484_5485GC>TT; p.Q1828H; 16:2109682-2109683	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5487G>A; p.L1829L; 16:2109680-2109680	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.10348G>T; p.E3450*; 16:2097376-2097376	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2807G>A; p.R936H; 16:2114216-2114216	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4019G>T; p.R1340L; 16:2111148-2111148	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.9677A>C; p.N3226T; 16:2100201-2100201	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8194C>T; p.R2732W; 16:2103863-2103863	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5772C>T; p.G1924G; 16:2109395-2109395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8687C>T; p.S2896F; 16:2103370-2103370	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8687C>T; p.S2896F; 16:2103370-2103370	skin; abdomen	malignant_melanoma	Substitution - Missense
c.5786_5787AG>TT; p.E1929V; 16:2109380-2109381	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3459G>T; p.S1153S; 16:2111708-2111708	breast	carcinoma	Substitution - coding silent
c.4858G>A; p.A1620T; 16:2110309-2110309	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3616G>T; p.V1206L; 16:2111551-2111551	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.992A>G; p.Y331C; 16:2118000-2118000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4547C>T; p.A1516V; 16:2110620-2110620	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.12142G>A; p.V4048M; 16:2090587-2090587	skin	malignant_melanoma	Substitution - Missense
c.2813C>T; p.T938M; 16:2114210-2114210	skin; trunk	malignant_melanoma	Substitution - Missense
c.2813C>T; p.T938M; 16:2114210-2114210	skin; extremity	malignant_melanoma	Substitution - Missense
c.4057G>A; p.G1353S; 16:2111110-2111110	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5212C>T; p.L1738F; 16:2109955-2109955	skin	malignant_melanoma	Substitution - Missense
c.12620G>A; p.R4207K; 16:2090019-2090019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6800T>G; p.V2267G; 16:2108367-2108367	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.234G>C; p.L78L; 16:2119360-2119360	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.9136C>T; p.R3046C; 16:2102446-2102446	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2813C>T; p.T938M; 16:2114210-2114210	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4665A>C; p.A1555A; 16:2110502-2110502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7141G>C; p.V2381L; 16:2106873-2106873	breast	carcinoma	Substitution - Missense
c.6289G>T; p.G2097W; 16:2108878-2108878	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4665A>C; p.A1555A; 16:2110502-2110502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6750G>A; p.T2250T; 16:2108417-2108417	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3625T>A; p.F1209I; 16:2111542-2111542	kidney	other; neoplasm	Substitution - Missense
c.4665A>C; p.A1555A; 16:2110502-2110502	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.10043G>A; p.R3348Q; 16:2099651-2099651	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5357C>T; p.P1786L; 16:2109810-2109810	skin	malignant_melanoma	Substitution - Missense
c.12766G>T; p.A4256S; 16:2089873-2089873	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4195T>C; p.W1399R; 16:2110972-2110972	thyroid	other; neoplasm	Substitution - Missense
c.2611G>T; p.E871*; 16:2114412-2114412	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4195T>C; p.W1399R; 16:2110972-2110972	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3064C>T; p.L1022L; 16:2112885-2112885	skin	malignant_melanoma	Substitution - coding silent
c.6768G>T; p.L2256L; 16:2108399-2108399	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.10435G>A; p.E3479K; 16:2097212-2097212	breast	carcinoma	Substitution - Missense
c.4445A>C; p.Q1482P; 16:2110722-2110722	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3854G>A; p.R1285Q; 16:2111313-2111313	skin	malignant_melanoma	Substitution - Missense
c.4836G>A; p.T1612T; 16:2110331-2110331	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8844G>A; p.S2948S; 16:2102918-2102918	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4445A>C; p.Q1482P; 16:2110722-2110722	urinary_tract; bladder	carcinoma	Substitution - Missense
c.12226C>G; p.P4076A; 16:2090503-2090503	liver	carcinoma	Substitution - Missense
c.10239C>T; p.S3413S; 16:2097485-2097485	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.12025G>A; p.V4009M; 16:2090787-2090787	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.12226C>G; p.P4076A; 16:2090503-2090503	liver	carcinoma	Substitution - Missense
c.8681_8689delCCAACTCCG; p.A2894_S2896delA16:2103368-2103376	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - In frame
c.928G>A; p.G310S; 16:2118064-2118064	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9714C>T; p.S3238S; 16:2100070-2100070	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.9510C>T; p.I3170I; 16:2100454-2100454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4047C>T; p.F1349F; 16:2111120-2111120	skin	malignant_melanoma	Substitution - coding silent
c.6535G>A; p.V2179I; 16:2108632-2108632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6545A>G; p.Q2182R; 16:2108622-2108622	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8719G>T; p.A2907S; 16:2103338-2103338	skin	malignant_melanoma	Substitution - Missense
c.8472G>A; p.Q2824Q; 16:2103585-2103585	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4857C>T; p.S1619S; 16:2110310-2110310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3375C>T; p.S1125S; 16:2111792-2111792	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.4504C>A; p.L1502M; 16:2110663-2110663	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3160C>T; p.L1054L; 16:2112789-2112789	skin	malignant_melanoma	Substitution - coding silent
c.12799C>T; p.R4267W; 16:2089840-2089840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5299A>G; p.T1767A; 16:2109868-2109868	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.888_889CC>TT; p.P297S; 16:2118103-2118104	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1643C>T; p.A548V; 16:2116608-2116608	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8359C>T; p.R2787C; 16:2103698-2103698	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.11840C>T; p.A3947V; 16:2091047-2091047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.11200T>C; p.Y3734H; 16:2092549-2092549	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8359C>T; p.R2787C; 16:2103698-2103698	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.11504G>A; p.R3835H; 16:2091814-2091814	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.12667C>T; p.L4223F; 16:2089972-2089972	liver	carcinoma	Substitution - Missense
c.8335G>A; p.E2779K; 16:2103722-2103722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12111G>A; p.G4037G; 16:2090701-2090701	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.9499A>T; p.I3167F; 16:2100465-2100465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12697A>T; p.T4233S; 16:2089942-2089942	liver	carcinoma	Substitution - Missense
c.8425C>T; p.P2809S; 16:2103632-2103632	skin	malignant_melanoma	Substitution - Missense
c.12667C>T; p.L4223F; 16:2089972-2089972	liver	carcinoma	Substitution - Missense
c.9604G>A; p.V3202I; 16:2100274-2100274	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.9604G>A; p.V3202I; 16:2100274-2100274	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6666G>A; p.A2222A; 16:2108501-2108501	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.12250C>T; p.P4084S; 16:2090479-2090479	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6797G>A; p.R2266H; 16:2108370-2108370	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6594G>A; p.P2198P; 16:2108573-2108573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5358G>A; p.P1786P; 16:2109809-2109809	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5589C>T; p.S1863S; 16:2109578-2109578	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4250G>A; p.G1417D; 16:2110917-2110917	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6799G>T; p.V2267L; 16:2108368-2108368	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.12507C>T; p.S4169S; 16:2090132-2090132	skin	malignant_melanoma	Substitution - coding silent
c.10162G>A; p.A3388T; 16:2097873-2097873	pancreas	carcinoma	Substitution - Missense
c.7802G>C; p.R2601P; 16:2105926-2105926	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4817C>T; p.T1606I; 16:2110350-2110350	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.10886C>T; p.T3629I; 16:2093674-2093674	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3569G>T; p.R1190L; 16:2111598-2111598	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.925G>A; p.D309N; 16:2118067-2118067	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4288G>A; p.E1430K; 16:2110879-2110879	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.12455A>G; p.K4152R; 16:2090184-2090184	skin	malignant_melanoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9157G>C; p.A3053P; 16:2102425-2102425	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7530C>T; p.Y2510Y; 16:2106264-2106264	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.10747G>A; p.G3583S; 16:2093885-2093885	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5986G>A; p.V1996M; 16:2109181-2109181	prostate	carcinoma	Substitution - Missense
c.8896G>C; p.E2966Q; 16:2102866-2102866	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2990C>T; p.T997M; 16:2112959-2112959	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.9022G>A; p.V3008M; 16:2102560-2102560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3421G>A; p.G1141S; 16:2111746-2111746	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7872G>T; p.R2624R; 16:2105466-2105466	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.8644T>A; p.W2882R; 16:2103413-2103413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12678T>A; p.F4226L; 16:2089961-2089961	pancreas	carcinoma	Substitution - Missense
c.8550G>A; p.S2850S; 16:2103507-2103507	breast	carcinoma	Substitution - coding silent
c.5558C>T; p.T1853I; 16:2109609-2109609	skin	malignant_melanoma	Substitution - Missense
c.2643C>T; p.F881F; 16:2114380-2114380	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2722G>A; p.V908M; 16:2114301-2114301	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7776C>T; p.T2592T; 16:2105952-2105952	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.11496C>T; p.D3832D; 16:2091822-2091822	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2722G>A; p.V908M; 16:2114301-2114301	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3298G>A; p.E1100K; 16:2111869-2111869	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.11188G>A; p.V3730M; 16:2092561-2092561	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; classic	Substitution - Missense
c.5206G>T; p.V1736F; 16:2109961-2109961	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2775G>T; p.R925R; 16:2114248-2114248	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3382T>A; p.S1128T; 16:2111785-2111785	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6405G>A; p.A2135A; 16:2108762-2108762	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7175G>A; p.R2392H; 16:2106839-2106839	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6085A>G; p.T2029A; 16:2109082-2109082	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.844G>C; p.G282R; 16:2118148-2118148	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5727C>T; p.I1909I; 16:2109440-2109440	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3679G>A; p.A1227T; 16:2111488-2111488	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5722C>T; p.Q1908*; 16:2109445-2109445	breast	carcinoma	Substitution - Nonsense
c.11016+3G>A; p.?; 16:2093541-2093541	prostate	carcinoma	Unknown
c.11410G>A; p.G3804R; 16:2092048-2092048	liver	carcinoma	Substitution - Missense
c.8570C>A; p.A2857D; 16:2103487-2103487	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6124G>T; p.A2042S; 16:2109043-2109043	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4760G>A; p.R1587H; 16:2110407-2110407	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7606G>A; p.G2536R; 16:2106188-2106188	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3003C>T; p.H1001H; 16:2112946-2112946	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.12292G>A; p.A4098T; 16:2090437-2090437	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3372C>T; p.A1124A; 16:2111795-2111795	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.8187G>A; p.S2729S; 16:2103870-2103870	thyroid	other; neoplasm	Substitution - coding silent
c.4029G>T; p.P1343P; 16:2111138-2111138	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.7716C>A; p.I2572I; 16:2106012-2106012	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.10585G>A; p.E3529K; 16:2094125-2094125	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.11235delG; p.P3747fs*79; 16:2092514-2092514	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7716C>A; p.I2572I; 16:2106012-2106012	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.10087C>T; p.Q3363*; 16:2097948-2097948	central_nervous_system; brain	glioma	Substitution - Nonsense
c.10950C>T; p.H3650H; 16:2093610-2093610	pancreas	carcinoma	Substitution - coding silent
c.10950C>T; p.H3650H; 16:2093610-2093610	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.6716C>T; p.T2239M; 16:2108451-2108451	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4126G>A; p.V1376M; 16:2111041-2111041	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8391C>T; p.G2797G; 16:2103666-2103666	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4014C>T; p.T1338T; 16:2111153-2111153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8575G>T; p.A2859S; 16:2103482-2103482	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10065G>T; p.P3355P; 16:2097970-2097970	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.10395C>T; p.F3465F; 16:2097329-2097329	breast	carcinoma	Substitution - coding silent
c.10218G>C; p.K3406N; 16:2097730-2097730	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.11211G>A; p.G3737G; 16:2092538-2092538	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8061G>A; p.T2687T; 16:2104598-2104598	pancreas	carcinoma	Substitution - coding silent
c.6086C>T; p.T2029M; 16:2109081-2109081	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.9353T>A; p.F3118Y; 16:2102105-2102105	lung	carcinoid-endocrine_tumour; atypical	Substitution - Missense
c.9424C>T; p.L3142L; 16:2100540-2100540	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3895G>A; p.V1299I; 16:2111272-2111272	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8689G>A; p.V2897I; 16:2103368-2103368	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.10505G>A; p.S3502N; 16:2094205-2094205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Mutation summary in protein domains

Top

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

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]