Entrez Gene

Basic Information
Gene ID	675
Name	BRCA2
Synonymous	breast cancer 2, early onset;BRCA2;breast cancer 2, early onset
Definition	BRCA1/BRCA2-containing complex, subunit 2\|Fanconi anemia group D1 protein\|breast and ovarian cancer susceptibility gene, early onset\|breast cancer 2 tumor suppressor\|breast cancer type 2 susceptibility protein
Position	13q12.3
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 0.22.

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.3638delA; p.V1214fs*14; 13:32337993-32337993	ovary	carcinoma	Deletion - Frameshift
c.2350A>G; p.M784V; 13:32336705-32336705	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3550G>A; p.G1184S; 13:32337905-32337905	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.963A>C; p.Q321H; 13:32332441-32332441	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4013G>A; p.G1338D; 13:32338368-32338368	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8941G>A; p.E2981K; 13:32379503-32379503	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.145G>T; p.E49*; 13:32319154-32319154	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7420G>T; p.E2474*; 13:32355273-32355273	oesophagus	carcinoma	Substitution - Nonsense
c.7463G>C; p.R2488T; 13:32356455-32356455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9539T>G; p.L3180R; 13:32396935-32396935	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1316T>G; p.F439C; 13:32332794-32332794	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4585G>A; p.G1529R; 13:32338940-32338940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4585G>A; p.G1529R; 13:32338940-32338940	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3043A>G; p.K1015E; 13:32337398-32337398	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3286G>A; p.D1096N; 13:32337641-32337641	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.8663G>A; p.R2888H; 13:32376700-32376700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8663G>A; p.R2888H; 13:32376700-32376700	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9246_9247insA; p.T3085fs*26; 13:32380135-32380136	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2979G>C; p.W993C; 13:32337334-32337334	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5254C>A; p.H1752N; 13:32339609-32339609	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.10071A>T; p.T3357T; 13:32398584-32398584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4936G>C; p.E1646Q; 13:32339291-32339291	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5046T>C; p.S1682S; 13:32339401-32339401	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6030C>A; p.V2010V; 13:32340385-32340385	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6155C>T; p.S2052L; 13:32340510-32340510	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5046T>C; p.S1682S; 13:32339401-32339401	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8934delA; p.E2981fs*7; 13:32379496-32379496	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.464G>T; p.R155I; 13:32326139-32326139	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5046T>C; p.S1682S; 13:32339401-32339401	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8934delA; p.E2981fs*7; 13:32379496-32379496	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.6865T>C; p.L2289L; 13:32344581-32344581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2943A>C; p.K981N; 13:32337298-32337298	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1738A>C; p.I580L; 13:32333216-32333216	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.8852C>T; p.A2951V; 13:32379414-32379414	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8971C>T; p.R2991C; 13:32379767-32379767	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7727G>C; p.G2576A; 13:32357851-32357851	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4777G>T; p.E1593*; 13:32339132-32339132	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.4777G>T; p.E1593*; 13:32339132-32339132	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.4777G>T; p.E1593*; 13:32339132-32339132	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.6291G>A; p.T2097T; 13:32340646-32340646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5959C>G; p.Q1987E; 13:32340314-32340314	skin	malignant_melanoma	Substitution - Missense
c.1444C>A; p.L482I; 13:32332922-32332922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.317-10A>G; p.?; 13:32325066-32325066	pancreas	carcinoma	Unknown
c.181C>T; p.L61L; 13:32319190-32319190	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5673A>T; p.A1891A; 13:32340028-32340028	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5375C>T; p.S1792F; 13:32339730-32339730	skin	malignant_melanoma	Substitution - Missense
c.9956C>A; p.S3319Y; 13:32398469-32398469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6533A>G; p.H2178R; 13:32340888-32340888	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1810A>T; p.K604*; 13:32333288-32333288	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.5428G>A; p.V1810I; 13:32339783-32339783	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5240A>G; p.N1747S; 13:32339595-32339595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5634C>T; p.N1878N; 13:32339989-32339989	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4216_4219delAAAG; p.K1406fs*3; 13:32338571-32338574	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.8257C>T; p.L2753F; 13:32363459-32363459	urinary_tract; bladder	carcinoma	Substitution - Missense
c.994A>T; p.I332F; 13:32332472-32332472	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4790C>A; p.S1597Y; 13:32339145-32339145	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3051C>A; p.I1017I; 13:32337406-32337406	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7625C>T; p.T2542M; 13:32357749-32357749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1069G>A; p.E357K; 13:32332547-32332547	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4790C>A; p.S1597Y; 13:32339145-32339145	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3051C>A; p.I1017I; 13:32337406-32337406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7633G>A; p.V2545I; 13:32357757-32357757	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9995C>A; p.S3332Y; 13:32398508-32398508	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2293A>C; p.N765H; 13:32336648-32336648	breast	carcinoma	Substitution - Missense
c.7821delT; p.P2608fs*40; 13:32362538-32362538	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.6937G>A; p.G2313S; 13:32344653-32344653	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10150C>T; p.R3384*; 13:32398663-32398663	prostate	adenoma	Substitution - Nonsense
c.9309A>G; p.I3103M; 13:32394741-32394741	skin	malignant_melanoma	Substitution - Missense
c.9995C>A; p.S3332Y; 13:32398508-32398508	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2603C>T; p.T868I; 13:32336958-32336958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1664C>T; p.P555L; 13:32333142-32333142	skin	malignant_melanoma	Substitution - Missense
c.2309_2310insAA; p.L771fs*2; 13:32336664-32336665	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.8487G>C; p.Q2829H; 13:32370557-32370557	pancreas	carcinoma	Substitution - Missense
c.4304A>C; p.N1435T; 13:32338659-32338659	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.9580C>A; p.P3194T; 13:32396976-32396976	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.486G>A; p.G162G; 13:32326252-32326252	liver	carcinoma	Substitution - coding silent
c.3429A>T; p.E1143D; 13:32337784-32337784	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3199A>G; p.T1067A; 13:32337554-32337554	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8832C>A; p.I2944I; 13:32379394-32379394	lung	carcinoma; undifferentiated_carcinoma	Substitution - coding silent
c.9966G>T; p.M3322I; 13:32398479-32398479	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4944delA; p.S1650fs*20; 13:32339299-32339299	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.10194G>T; p.Q3398H; 13:32398707-32398707	skin	malignant_melanoma	Substitution - Missense
c.2133C>T; p.C711C; 13:32336488-32336488	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7314T>C; p.D2438D; 13:32355167-32355167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.9512_9515delTACT; p.L3172fs*44; 13:32396908-32396911	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.4063G>T; p.D1355Y; 13:32338418-32338418	breast	carcinoma	Substitution - Missense
c.4315G>A; p.A1439T; 13:32338670-32338670	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2758C>T; p.P920S; 13:32337113-32337113	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2758C>T; p.P920S; 13:32337113-32337113	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2305_2306insATAAGAG; p.L769fs*21; 13:32336660-32336661	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2758C>T; p.P920S; 13:32337113-32337113	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5350_5351insA; p.N1784fs*3; 13:32339705-32339706	endometrium	carcinoma	Insertion - Frameshift
c.415C>G; p.L139V; 13:32325174-32325174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3515C>T; p.S1172L; 13:32337870-32337870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2546T>C; p.V849A; 13:32336901-32336901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1063G>C; p.V355L; 13:32332541-32332541	lung	carcinoma	Substitution - Missense
c.4317C>T; p.A1439A; 13:32338672-32338672	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.8295T>C; p.C2765C; 13:32363497-32363497	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3515C>T; p.S1172L; 13:32337870-32337870	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8034G>T; p.R2678S; 13:32363236-32363236	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.9577A>C; p.T3193P; 13:32396973-32396973	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.7507G>T; p.V2503F; 13:32356499-32356499	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.775_776delAG; p.E260fs*15; 13:32331012-32331013	breast	carcinoma	Deletion - Frameshift
c.9763delG; p.E3256fs*19; 13:32398276-32398276	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.8777T>G; p.L2926*; 13:32379339-32379339	breast	carcinoma	Substitution - Nonsense
c.3050T>C; p.I1017T; 13:32337405-32337405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3050T>C; p.I1017T; 13:32337405-32337405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2760C>T; p.P920P; 13:32337115-32337115	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5249C>T; p.S1750F; 13:32339604-32339604	skin; trunk	malignant_melanoma	Substitution - Missense
c.7266T>A; p.C2422*; 13:32355119-32355119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7389T>C; p.N2463N; 13:32355242-32355242	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3G>A; p.M1I; 13:32316463-32316463	ovary	other; neoplasm	Substitution - Missense
c.2649C>T; p.F883F; 13:32337004-32337004	skin	malignant_melanoma	Substitution - coding silent
c.9206_9209delGTTC; p.C3069fs*5; 13:32380095-32380098	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.3803C>A; p.S1268Y; 13:32338158-32338158	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1104A>G; p.S368S; 13:32332582-32332582	prostate	carcinoma	Substitution - coding silent
c.2889delA; p.M965fs*1; 13:32337244-32337244	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.862C>T; p.P288S; 13:32332340-32332340	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.862C>T; p.P288S; 13:32332340-32332340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9632C>A; p.T3211K; 13:32397028-32397028	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.862C>T; p.P288S; 13:32332340-32332340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1452A>G; p.V484V; 13:32332930-32332930	pancreas	NS	Substitution - coding silent
c.8431G>A; p.D2811N; 13:32370501-32370501	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5553C>T; p.I1851I; 13:32339908-32339908	skin	malignant_melanoma	Substitution - coding silent
c.1452A>G; p.V484V; 13:32332930-32332930	pancreas	carcinoma	Substitution - coding silent
c.4357A>T; p.K1453*; 13:32338712-32338712	ovary	other; neoplasm	Substitution - Nonsense
c.4357A>T; p.K1453*; 13:32338712-32338712	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.5897A>G; p.H1966R; 13:32340252-32340252	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1876G>A; p.E626K; 13:32333354-32333354	skin	malignant_melanoma	Substitution - Missense
c.6319C>T; p.P2107S; 13:32340674-32340674	skin	malignant_melanoma	Substitution - Missense
c.4403C>T; p.S1468F; 13:32338758-32338758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8652T>A; p.Y2884*; 13:32376689-32376689	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1000C>T; p.H334Y; 13:32332478-32332478	skin	malignant_melanoma	Substitution - Missense
c.9785A>C; p.Q3262P; 13:32398298-32398298	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3771delA; p.I1258fs*1; 13:32338126-32338126	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.9741G>T; p.Q3247H; 13:32398254-32398254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4514C>T; p.T1505I; 13:32338869-32338869	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3670G>A; p.G1224S; 13:32338025-32338025	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1365A>G; p.S455S; 13:32332843-32332843	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3376G>C; p.E1126Q; 13:32337731-32337731	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4245G>A; p.E1415E; 13:32338600-32338600	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6012A>G; p.E2004E; 13:32340367-32340367	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1955C>T; p.S652F; 13:32336310-32336310	skin	malignant_melanoma	Substitution - Missense
c.4534C>T; p.R1512C; 13:32338889-32338889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2823G>C; p.V941V; 13:32337178-32337178	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.7960C>T; p.L2654F; 13:32362677-32362677	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6012A>G; p.E2004E; 13:32340367-32340367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6012A>G; p.E2004E; 13:32340367-32340367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.9831delG; p.P3278fs*35; 13:32398344-32398344	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.6012A>G; p.E2004E; 13:32340367-32340367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6493T>C; p.L2165L; 13:32340848-32340848	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4258G>A; p.D1420N; 13:32338613-32338613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3106G>A; p.E1036K; 13:32337461-32337461	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.103C>T; p.L35F; 13:32319112-32319112	skin	malignant_melanoma	Substitution - Missense
c.3568C>T; p.R1190W; 13:32337923-32337923	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4599A>C; p.K1533N; 13:32338954-32338954	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2441C>T; p.P814L; 13:32336796-32336796	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9349C>A; p.H3117N; 13:32394781-32394781	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4178C>T; p.A1393V; 13:32338533-32338533	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7069C>T; p.L2357L; 13:32354922-32354922	skin	malignant_melanoma	Substitution - coding silent
c.9384A>G; p.R3128R; 13:32394816-32394816	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6803G>T; p.R2268I; 13:32341158-32341158	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.667C>T; p.H223Y; 13:32329478-32329478	skin	malignant_melanoma	Substitution - Missense
c.2508T>C; p.P836P; 13:32336863-32336863	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4156G>T; p.D1386Y; 13:32338511-32338511	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1435G>T; p.D479Y; 13:32332913-32332913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174C; 13:32326502-32326502	liver	carcinoma	Substitution - Missense
c.552A>G; p.L184L; 13:32326534-32326534	liver	carcinoma	Substitution - coding silent
c.7426G>T; p.E2476*; 13:32355279-32355279	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4614_4634del21; p.L1539_L1545delLDKVKNL; 13:32338969-32338989	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.8657C>G; p.P2886R; 13:32376694-32376694	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.552A>G; p.L184L; 13:32326534-32326534	liver	carcinoma	Substitution - coding silent
c.9998T>C; p.L3333P; 13:32398511-32398511	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2495A>G; p.E832G; 13:32336850-32336850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4477G>T; p.E1493*; 13:32338832-32338832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3396A>G; p.K1132K; 13:32337751-32337751	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4272T>C; p.S1424S; 13:32338627-32338627	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.1956T>C; p.S652S; 13:32336311-32336311	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6615G>T; p.V2205V; 13:32340970-32340970	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.9285C>T; p.D3095D; 13:32394717-32394717	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9285C>T; p.D3095D; 13:32394717-32394717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7050C>T; p.T2350T; 13:32354903-32354903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.9285C>T; p.D3095D; 13:32394717-32394717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.925_926insT; p.S309fs*6; 13:32332403-32332404	endometrium	carcinoma; serous_carcinoma	Insertion - Frameshift
c.53G>A; p.R18H; 13:32316513-32316513	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.9285C>T; p.D3095D; 13:32394717-32394717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.9285C>T; p.D3095D; 13:32394717-32394717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8150C>T; p.A2717V; 13:32363352-32363352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.561G>A; p.E187E; 13:32326543-32326543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.67+5delT; p.?; 13:32316532-32316532	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Unknown
c.2290G>A; p.E764K; 13:32336645-32336645	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2290G>A; p.E764K; 13:32336645-32336645	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8350C>T; p.R2784W; 13:32370420-32370420	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2796C>T; p.D932D; 13:32337151-32337151	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.5039C>A; p.S1680Y; 13:32339394-32339394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9992T>C; p.I3331T; 13:32398505-32398505	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6292T>A; p.S2098T; 13:32340647-32340647	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8350C>T; p.R2784W; 13:32370420-32370420	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.5808G>A; p.M1936I; 13:32340163-32340163	skin; trunk	malignant_melanoma	Substitution - Missense
c.2199C>A; p.V733V; 13:32336554-32336554	pancreas	carcinoma	Substitution - coding silent
c.8504C>A; p.S2835*; 13:32370972-32370972	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.2134C>T; p.L712L; 13:32336489-32336489	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3529G>A; p.D1177N; 13:32337884-32337884	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3097G>C; p.D1033H; 13:32337452-32337452	breast	carcinoma	Substitution - Missense
c.2134C>T; p.L712L; 13:32336489-32336489	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.9939_9940insA; p.E3316fs*11; 13:32398452-32398453	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2296G>A; p.A766T; 13:32336651-32336651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4061C>T; p.T1354M; 13:32338416-32338416	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3288T>G; p.D1096E; 13:32337643-32337643	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1838T>G; p.L613R; 13:32333316-32333316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4061C>T; p.T1354M; 13:32338416-32338416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4709G>C; p.R1570T; 13:32339064-32339064	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3575T>G; p.F1192C; 13:32337930-32337930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6529A>G; p.I2177V; 13:32340884-32340884	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3575T>G; p.F1192C; 13:32337930-32337930	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4855A>G; p.N1619D; 13:32339210-32339210	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4670C>A; p.T1557N; 13:32339025-32339025	thyroid	other; neoplasm	Substitution - Missense
c.4613C>T; p.S1538F; 13:32338968-32338968	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.6747C>T; p.A2249A; 13:32341102-32341102	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4405G>T; p.D1469Y; 13:32338760-32338760	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2956_2958delAAT; p.N987delN; 13:32337311-32337313	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.8608C>T; p.Q2870*; 13:32371076-32371076	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.8608C>T; p.Q2870*; 13:32371076-32371076	skin	malignant_melanoma	Substitution - Nonsense
c.7006C>T; p.R2336C; 13:32346895-32346895	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4535G>A; p.R1512H; 13:32338890-32338890	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.9382C>T; p.R3128*; 13:32394814-32394814	pancreas	carcinoma	Substitution - Nonsense
c.7006C>T; p.R2336C; 13:32346895-32346895	breast	carcinoma	Substitution - Missense
c.8801A>G; p.Q2934R; 13:32379363-32379363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2867A>C; p.K956T; 13:32337222-32337222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1334C>A; p.S445Y; 13:32332812-32332812	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.800G>A; p.G267E; 13:32332278-32332278	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2476G>T; p.E826*; 13:32336831-32336831	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.800G>A; p.G267E; 13:32332278-32332278	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7046T>G; p.F2349C; 13:32354899-32354899	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.8445T>C; p.V2815V; 13:32370515-32370515	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6065C>T; p.S2022L; 13:32340420-32340420	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4695G>T; p.K1565N; 13:32339050-32339050	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4820T>G; p.I1607S; 13:32339175-32339175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4165T>G; p.F1389V; 13:32338520-32338520	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6602C>T; p.S2201F; 13:32340957-32340957	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.10151G>A; p.R3384Q; 13:32398664-32398664	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.374A>G; p.D125G; 13:32325133-32325133	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4084delC; p.H1362fs*12; 13:32338439-32338439	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.9755C>T; p.S3252F; 13:32398268-32398268	skin	malignant_melanoma	Substitution - Missense
c.5345delA; p.N1784fs*7; 13:32339700-32339700	stomach	adenocarcinoma	Deletion - Frameshift
c.1528G>T; p.E510*; 13:32333006-32333006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.6125delA; p.G2044fs*7; 13:32340480-32340480	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7505G>A; p.R2502H; 13:32356497-32356497	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7904A>G; p.E2635G; 13:32362621-32362621	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1528G>T; p.E510*; 13:32333006-32333006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4570T>G; p.F1524V; 13:32338925-32338925	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8092G>A; p.A2698T; 13:32363294-32363294	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6101G>A; p.R2034H; 13:32340456-32340456	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2494G>A; p.E832K; 13:32336849-32336849	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6618A>C; p.K2206N; 13:32340973-32340973	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4919A>G; p.H1640R; 13:32339274-32339274	pancreas	carcinoma	Substitution - Missense
c.1237C>G; p.L413V; 13:32332715-32332715	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4779A>G; p.E1593E; 13:32339134-32339134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1237C>G; p.L413V; 13:32332715-32332715	stomach	adenocarcinoma	Substitution - Missense
c.4885A>G; p.T1629A; 13:32339240-32339240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5985C>T; p.N1995N; 13:32340340-32340340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4258G>T; p.D1420Y; 13:32338613-32338613	skin	malignant_melanoma	Substitution - Missense
c.7355A>C; p.N2452T; 13:32355208-32355208	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2051_2074del24; p.D685_K692delDLDYKEAK; 13:32336406-32336429	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - In frame
c.5354C>T; p.T1785I; 13:32339709-32339709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6464T>A; p.L2155H; 13:32340819-32340819	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.9829C>T; p.L3277L; 13:32398342-32398342	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4504C>G; p.Q1502E; 13:32338859-32338859	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1889C>T; p.T630I; 13:32333367-32333367	ovary	carcinoma	Substitution - Missense
c.951delA; p.N319fs*5; 13:32332429-32332429	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.632-2A>G; p.?; 13:32329441-32329441	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1889C>T; p.T630I; 13:32333367-32333367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10207G>C; p.E3403Q; 13:32398720-32398720	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2886T>C; p.H962H; 13:32337241-32337241	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2689G>T; p.E897*; 13:32337044-32337044	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1403G>T; p.R468I; 13:32332881-32332881	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1164A>T; p.V388V; 13:32332642-32332642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.9155G>A; p.R3052Q; 13:32380044-32380044	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5744C>T; p.T1915M; 13:32340099-32340099	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6200C>T; p.S2067F; 13:32340555-32340555	skin	malignant_melanoma	Substitution - Missense
c.4208C>G; p.T1403S; 13:32338563-32338563	NS	malignant_melanoma	Substitution - Missense
c.3472G>C; p.E1158Q; 13:32337827-32337827	breast	carcinoma	Substitution - Missense
c.2886T>C; p.H962H; 13:32337241-32337241	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.8991T>G; p.Y2997*; 13:32379787-32379787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2851C>A; p.L951I; 13:32337206-32337206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.522T>C; p.R174R; 13:32326504-32326504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.9154C>T; p.R3052W; 13:32380043-32380043	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4036A>G; p.T1346A; 13:32338391-32338391	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>A; p.E187K; 13:32326541-32326541	salivary_gland; parotid	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.6215C>T; p.S2072F; 13:32340570-32340570	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.5637G>T; p.E1879D; 13:32339992-32339992	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.996T>G; p.I332M; 13:32332474-32332474	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8051A>T; p.K2684I; 13:32363253-32363253	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.75A>G; p.G25G; 13:32319084-32319084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8223G>T; p.K2741N; 13:32363425-32363425	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2275C>A; p.L759I; 13:32336630-32336630	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4325C>A; p.S1442*; 13:32338680-32338680	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6216C>T; p.S2072S; 13:32340571-32340571	skin	malignant_melanoma	Substitution - coding silent
c.8201C>A; p.P2734H; 13:32363403-32363403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6475C>T; p.Q2159*; 13:32340830-32340830	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Nonsense
c.1495C>T; p.Q499*; 13:32332973-32332973	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2164A>C; p.K722Q; 13:32336519-32336519	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4321G>T; p.E1441*; 13:32338676-32338676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2701C>A; p.L901I; 13:32337056-32337056	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6647C>T; p.S2216F; 13:32341002-32341002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3273A>C; p.L1091F; 13:32337628-32337628	central_nervous_system; brain	glioma	Substitution - Missense
c.2317C>A; p.P773T; 13:32336672-32336672	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.4655G>A; p.G1552D; 13:32339010-32339010	pancreas	carcinoma	Substitution - Missense
c.6187G>A; p.G2063R; 13:32340542-32340542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7283T>A; p.L2428*; 13:32355136-32355136	pancreas	carcinoma	Substitution - Nonsense
c.559G>T; p.E187*; 13:32326541-32326541	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6803G>A; p.R2268K; 13:32341158-32341158	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.559G>T; p.E187*; 13:32326541-32326541	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.9285C>A; p.D3095E; 13:32394717-32394717	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3623T>A; p.L1208*; 13:32337978-32337978	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7566T>C; p.S2522S; 13:32356558-32356558	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.7566T>C; p.S2522S; 13:32356558-32356558	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6523G>C; p.E2175Q; 13:32340878-32340878	breast	carcinoma	Substitution - Missense
c.5227A>C; p.S1743R; 13:32339582-32339582	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8639C>T; p.T2880I; 13:32376676-32376676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9529G>C; p.E3177Q; 13:32396925-32396925	breast	carcinoma	Substitution - Missense
c.4427A>G; p.D1476G; 13:32338782-32338782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1729G>T; p.A577S; 13:32333207-32333207	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3705A>G; p.Q1235Q; 13:32338060-32338060	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6537T>G; p.V2179V; 13:32340892-32340892	skin	malignant_melanoma	Substitution - coding silent
c.9020G>T; p.R3007I; 13:32379816-32379816	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8472A>T; p.R2824S; 13:32370542-32370542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5962G>A; p.V1988I; 13:32340317-32340317	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4706A>G; p.Y1569C; 13:32339061-32339061	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3370C>T; p.Q1124*; 13:32337725-32337725	ovary	other; neoplasm	Substitution - Nonsense
c.4054G>T; p.D1352Y; 13:32338409-32338409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3791A>G; p.K1264R; 13:32338146-32338146	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1217delC; p.Q407fs*23; 13:32332695-32332695	ovary	carcinoma; clear_cell_carcinoma	Deletion - Frameshift
c.865A>C; p.N289H; 13:32332343-32332343	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.7253G>T; p.R2418I; 13:32355106-32355106	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5458T>C; p.C1820R; 13:32339813-32339813	thyroid	carcinoma	Substitution - Missense
c.6435T>C; p.N2145N; 13:32340790-32340790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6058G>A; p.E2020K; 13:32340413-32340413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1114A>C; p.N372H; 13:32332592-32332592	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1114A>C; p.N372H; 13:32332592-32332592	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6058G>A; p.E2020K; 13:32340413-32340413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4993G>C; p.E1665Q; 13:32339348-32339348	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6909C>T; p.S2303S; 13:32344625-32344625	skin	malignant_melanoma	Substitution - coding silent
c.1114A>C; p.N372H; 13:32332592-32332592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8858A>C; p.E2953A; 13:32379420-32379420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.9679C>A; p.Q3227K; 13:32398192-32398192	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1114A>C; p.N372H; 13:32332592-32332592	thyroid	other; neoplasm	Substitution - Missense
c.1114A>C; p.N372H; 13:32332592-32332592	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1114A>C; p.N372H; 13:32332592-32332592	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8510G>T; p.G2837V; 13:32370978-32370978	breast	carcinoma	Substitution - Missense
c.2556C>G; p.N852K; 13:32336911-32336911	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2491G>A; p.V831I; 13:32336846-32336846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6010G>C; p.E2004Q; 13:32340365-32340365	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7948G>C; p.E2650Q; 13:32362665-32362665	breast	carcinoma	Substitution - Missense
c.5750C>T; p.S1917L; 13:32340105-32340105	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3232G>A; p.V1078I; 13:32337587-32337587	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6762T>C; p.F2254F; 13:32341117-32341117	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5886delA; p.I1962fs*42; 13:32340241-32340241	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.5750C>T; p.S1917L; 13:32340105-32340105	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1408G>C; p.E470Q; 13:32332886-32332886	ovary	other; neoplasm	Substitution - Missense
c.8360G>T; p.R2787L; 13:32370430-32370430	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8360G>T; p.R2787L; 13:32370430-32370430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1816C>T; p.P606S; 13:32333294-32333294	skin	malignant_melanoma	Substitution - Missense
c.5941G>T; p.A1981S; 13:32340296-32340296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.565G>C; p.D189H; 13:32326547-32326547	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.8360G>T; p.R2787L; 13:32370430-32370430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1242G>A; p.L414L; 13:32332720-32332720	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4434A>G; p.L1478L; 13:32338789-32338789	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4914A>T; p.K1638N; 13:32339269-32339269	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2123C>A; p.S708Y; 13:32336478-32336478	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1817C>T; p.P606L; 13:32333295-32333295	skin	malignant_melanoma	Substitution - Missense
c.68-7delT; p.?; 13:32319070-32319070	endometrium	carcinoma	Unknown
c.6552G>A; p.Q2184Q; 13:32340907-32340907	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.68-7delT; p.?; 13:32319070-32319070	endometrium	carcinoma	Unknown
c.68-7delT; p.?; 13:32319070-32319070	endometrium	carcinoma	Unknown
c.9038C>T; p.T3013I; 13:32379834-32379834	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.68-7delT; p.?; 13:32319070-32319070	endometrium	carcinoma	Unknown
c.10186A>C; p.S3396R; 13:32398699-32398699	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5500A>C; p.S1834R; 13:32339855-32339855	stomach	adenocarcinoma	Substitution - Missense
c.4552G>C; p.E1518Q; 13:32338907-32338907	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2811A>G; p.Q937Q; 13:32337166-32337166	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.695A>G; p.Y232C; 13:32330932-32330932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.871C>T; p.L291L; 13:32332349-32332349	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4550_4559del10; p.K1517fs*23; 13:32338905-32338914	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.4550_4559del10; p.K1517fs*23; 13:32338905-32338914	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.10253T>G; p.I3418S; 13:32398766-32398766	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1417C>T; p.H473Y; 13:32332895-32332895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3769C>T; p.P1257S; 13:32338124-32338124	skin	malignant_melanoma	Substitution - Missense
c.8087_8102del16; p.S2697fs*31; 13:32363289-32363304	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.7840C>T; p.L2614F; 13:32362557-32362557	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.10070C>T; p.T3357I; 13:32398583-32398583	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6728C>G; p.S2243C; 13:32341083-32341083	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3050T>G; p.I1017S; 13:32337405-32337405	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.6728C>G; p.S2243C; 13:32341083-32341083	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2102T>G; p.F701C; 13:32336457-32336457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.561G>T; p.E187D; 13:32326543-32326543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6931C>G; p.P2311A; 13:32344647-32344647	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.615T>G; p.S205R; 13:32326597-32326597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8749C>T; p.L2917F; 13:32376786-32376786	skin	malignant_melanoma	Substitution - Missense
c.3539A>G; p.K1180R; 13:32337894-32337894	liver	carcinoma	Substitution - Missense
c.561G>T; p.E187D; 13:32326543-32326543	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3539A>G; p.K1180R; 13:32337894-32337894	liver	carcinoma	Substitution - Missense
c.7017G>A; p.K2339K; 13:32354870-32354870	liver	carcinoma	Substitution - coding silent
c.7017G>A; p.K2339K; 13:32354870-32354870	liver	carcinoma	Substitution - coding silent
c.8800C>A; p.Q2934K; 13:32379362-32379362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3387G>A; p.Q1129Q; 13:32337742-32337742	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1813_1814insA; p.I605fs*11; 13:32333291-32333292	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.7402G>A; p.V2468I; 13:32355255-32355255	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.7822C>T; p.P2608S; 13:32362539-32362539	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3361T>A; p.S1121T; 13:32337716-32337716	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2632G>A; p.D878N; 13:32336987-32336987	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.10243delA; p.K3416fs*>3; 13:32398756-32398756	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.702C>T; p.S234S; 13:32330939-32330939	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3686delT; p.S1230fs*9; 13:32338041-32338041	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2636C>T; p.S879F; 13:32336991-32336991	breast	carcinoma	Substitution - Missense
c.4303A>C; p.N1435H; 13:32338658-32338658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2528C>T; p.A843V; 13:32336883-32336883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3441C>A; p.N1147K; 13:32337796-32337796	liver	carcinoma	Substitution - Missense
c.8084C>A; p.S2695*; 13:32363286-32363286	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1405G>A; p.D469N; 13:32332883-32332883	skin; trunk	malignant_melanoma	Substitution - Missense
c.1042G>A; p.V348M; 13:32332520-32332520	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4625T>C; p.V1542A; 13:32338980-32338980	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7966C>A; p.L2656I; 13:32362683-32362683	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1922C>A; p.S641Y; 13:32336277-32336277	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3417G>T; p.K1139N; 13:32337772-32337772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9843A>C; p.P3281P; 13:32398356-32398356	breast	carcinoma	Substitution - coding silent
c.10056T>G; p.L3352L; 13:32398569-32398569	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9076C>T; p.Q3026*; 13:32379872-32379872	skin	malignant_melanoma	Substitution - Nonsense
c.8015_8016insA; p.I2675fs*6; 13:32363217-32363218	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2621C>T; p.T874I; 13:32336976-32336976	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5660C>T; p.T1887M; 13:32340015-32340015	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9986A>T; p.N3329I; 13:32398499-32398499	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5160A>T; p.S1720S; 13:32339515-32339515	liver	carcinoma	Substitution - coding silent
c.4179G>A; p.A1393A; 13:32338534-32338534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7847C>T; p.S2616F; 13:32362564-32362564	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.23G>T; p.R8M; 13:32316483-32316483	ovary	other; neoplasm	Substitution - Missense
c.5660C>T; p.T1887M; 13:32340015-32340015	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4179G>A; p.A1393A; 13:32338534-32338534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.671A>T; p.D224V; 13:32329482-32329482	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.8686C>T; p.R2896C; 13:32376723-32376723	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5729A>G; p.N1910S; 13:32340084-32340084	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.8686C>T; p.R2896C; 13:32376723-32376723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10024G>A; p.E3342K; 13:32398537-32398537	breast	carcinoma	Substitution - Missense
c.52C>T; p.R18C; 13:32316512-32316512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10024G>A; p.E3342K; 13:32398537-32398537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.10024G>A; p.E3342K; 13:32398537-32398537	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1460C>T; p.A487V; 13:32332938-32332938	large_intestine; colon	carcinoma	Substitution - Missense
c.5731G>A; p.D1911N; 13:32340086-32340086	urinary_tract; bladder	carcinoma	Substitution - Missense
c.9938A>C; p.K3313T; 13:32398451-32398451	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.75_76insCCAATGA; p.I27fs*6; 13:32319084-32319085	oesophagus	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.8794C>T; p.H2932Y; 13:32379356-32379356	thyroid	carcinoma	Substitution - Missense
c.8421G>A; p.S2807S; 13:32370491-32370491	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3512C>T; p.P1171L; 13:32337867-32337867	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9146A>C; p.Y3049S; 13:32380035-32380035	breast	carcinoma	Substitution - Missense
c.5282G>T; p.G1761V; 13:32339637-32339637	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5645C>A; p.S1882*; 13:32340000-32340000	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.5645C>A; p.S1882*; 13:32340000-32340000	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.10071A>G; p.T3357T; 13:32398584-32398584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2950_2951insA; p.N986fs*2; 13:32337305-32337306	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1011C>T; p.N337N; 13:32332489-32332489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7243C>T; p.H2415Y; 13:32355096-32355096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.47A>G; p.K16R; 13:32316507-32316507	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.47A>G; p.K16R; 13:32316507-32316507	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3326C>A; p.A1109E; 13:32337681-32337681	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6728C>A; p.S2243Y; 13:32341083-32341083	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.947G>A; p.R316K; 13:32332425-32332425	skin	malignant_melanoma	Substitution - Missense
c.6050A>C; p.K2017T; 13:32340405-32340405	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6513G>C; p.V2171V; 13:32340868-32340868	thyroid	other; neoplasm	Substitution - coding silent
c.6834C>T; p.I2278I; 13:32341189-32341189	skin	malignant_melanoma	Substitution - coding silent
c.3262C>T; p.P1088S; 13:32337617-32337617	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1368G>T; p.E456D; 13:32332846-32332846	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3907G>T; p.G1303C; 13:32338262-32338262	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8152A>G; p.I2718V; 13:32363354-32363354	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4912A>G; p.K1638E; 13:32339267-32339267	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4914A>G; p.K1638K; 13:32339269-32339269	large_intestine; rectum	NS	Substitution - coding silent
c.5519G>T; p.G1840V; 13:32339874-32339874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3191C>A; p.S1064*; 13:32337546-32337546	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1794_1798delATCTT; p.S599fs*1; 13:32333272-32333276	breast	carcinoma	Deletion - Frameshift
c.3191C>A; p.S1064*; 13:32337546-32337546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.841G>C; p.D281H; 13:32332319-32332319	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3738T>C; p.N1246N; 13:32338093-32338093	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.464G>A; p.R155K; 13:32326139-32326139	liver	carcinoma	Substitution - Missense
c.8465T>C; p.I2822T; 13:32370535-32370535	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.472T>C; p.S158P; 13:32326147-32326147	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7795G>T; p.E2599*; 13:32357919-32357919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4219G>C; p.E1407Q; 13:32338574-32338574	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7197A>G; p.T2399T; 13:32355050-32355050	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3429A>G; p.E1143E; 13:32337784-32337784	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9487delA; p.N3164fs*53; 13:32394919-32394919	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5067delA; p.K1691fs*15; 13:32339422-32339422	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5105C>T; p.P1702L; 13:32339460-32339460	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7054C>T; p.P2352S; 13:32354907-32354907	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8753A>G; p.E2918G; 13:32376790-32376790	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2921A>G; p.D974G; 13:32337276-32337276	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.8341A>G; p.N2781D; 13:32370411-32370411	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1805_1806insA; p.I605fs*11; 13:32333283-32333284	pancreas	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.7708A>T; p.K2570*; 13:32357832-32357832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7617G>T; p.Q2539H; 13:32356609-32356609	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6743A>T; p.H2248L; 13:32341098-32341098	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6469C>T; p.Q2157*; 13:32340824-32340824	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.5020A>G; p.S1674G; 13:32339375-32339375	prostate	carcinoma	Substitution - Missense
c.9016T>A; p.Y3006N; 13:32379812-32379812	ovary	other; neoplasm	Substitution - Missense
c.8524C>A; p.R2842S; 13:32370992-32370992	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7461C>A; p.A2487A; 13:32356453-32356453	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1550A>G; p.N517S; 13:32333028-32333028	central_nervous_system; brain	glioma	Substitution - Missense
c.2059G>C; p.D687H; 13:32336414-32336414	breast	carcinoma	Substitution - Missense
c.2985A>T; p.G995G; 13:32337340-32337340	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2103T>C; p.F701F; 13:32336458-32336458	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5045G>C; p.S1682T; 13:32339400-32339400	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.4022C>G; p.S1341*; 13:32338377-32338377	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.7559G>A; p.R2520Q; 13:32356551-32356551	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8716G>T; p.E2906*; 13:32376753-32376753	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.7035G>C; p.Q2345H; 13:32354888-32354888	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9253A>G; p.T3085A; 13:32380142-32380142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5946delT; p.S1982fs*22; 13:32340301-32340301	pancreas	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6155C>A; p.S2052*; 13:32340510-32340510	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.9716C>A; p.S3239Y; 13:32398229-32398229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10076delA; p.K3360fs*23; 13:32398589-32398589	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1329G>T; p.E443D; 13:32332807-32332807	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.6800C>T; p.S2267L; 13:32341155-32341155	NS	malignant_melanoma	Substitution - Missense
c.85C>A; p.L29I; 13:32319094-32319094	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2194G>C; p.E732Q; 13:32336549-32336549	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4575T>C; p.H1525H; 13:32338930-32338930	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6445A>G; p.I2149V; 13:32340800-32340800	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1043T>C; p.V348A; 13:32332521-32332521	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8212G>T; p.A2738S; 13:32363414-32363414	thyroid	carcinoma	Substitution - Missense
c.10069A>G; p.T3357A; 13:32398582-32398582	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2724A>C; p.E908D; 13:32337079-32337079	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.198A>G; p.Q66Q; 13:32319207-32319207	skin	malignant_melanoma	Substitution - coding silent
c.6357C>T; p.N2119N; 13:32340712-32340712	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4416G>T; p.K1472N; 13:32338771-32338771	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4273G>C; p.D1425H; 13:32338628-32338628	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6772G>A; p.E2258K; 13:32341127-32341127	pancreas	carcinoma	Substitution - Missense
c.6652G>T; p.D2218Y; 13:32341007-32341007	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5142T>G; p.Y1714*; 13:32339497-32339497	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6772G>A; p.E2258K; 13:32341127-32341127	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6772G>A; p.E2258K; 13:32341127-32341127	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6357C>T; p.N2119N; 13:32340712-32340712	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1689G>C; p.W563C; 13:32333167-32333167	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.7243C>A; p.H2415N; 13:32355096-32355096	breast	carcinoma	Substitution - Missense
c.575T>C; p.M192T; 13:32326557-32326557	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6596C>G; p.T2199S; 13:32340951-32340951	NS	malignant_melanoma	Substitution - Missense
c.5315T>G; p.I1772S; 13:32339670-32339670	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8009C>T; p.S2670L; 13:32363211-32363211	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4627delA; p.N1544fs*24; 13:32338982-32338982	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2808_2811delACAA; p.A938fs*21; 13:32337163-32337166	ovary	carcinoma	Deletion - Frameshift
c.6473T>G; p.F2158C; 13:32340828-32340828	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2868A>G; p.K956K; 13:32337223-32337223	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4060A>G; p.T1354A; 13:32338415-32338415	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4060A>G; p.T1354A; 13:32338415-32338415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7670C>T; p.A2557V; 13:32357794-32357794	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.10202C>T; p.T3401M; 13:32398715-32398715	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4060A>G; p.T1354A; 13:32338415-32338415	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4060A>G; p.T1354A; 13:32338415-32338415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6947A>G; p.K2316R; 13:32346836-32346836	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7132T>G; p.S2378A; 13:32354985-32354985	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2553C>G; p.F851L; 13:32336908-32336908	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4945A>T; p.K1649*; 13:32339300-32339300	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.8521T>A; p.F2841I; 13:32370989-32370989	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.284T>A; p.V95E; 13:32319293-32319293	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5683G>A; p.E1895K; 13:32340038-32340038	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7051G>A; p.A2351T; 13:32354904-32354904	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3141T>G; p.I1047M; 13:32337496-32337496	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1380T>C; p.N460N; 13:32332858-32332858	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2133C>A; p.C711*; 13:32336488-32336488	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3596A>G; p.D1199G; 13:32337951-32337951	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8016delA; p.K2674fs*2; 13:32363218-32363218	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7942A>T; p.S2648C; 13:32362659-32362659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4012G>A; p.G1338S; 13:32338367-32338367	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4350T>C; p.F1450F; 13:32338705-32338705	skin	malignant_melanoma	Substitution - coding silent
c.9090delA; p.T3033fs*29; 13:32379886-32379886	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.9090delA; p.T3033fs*29; 13:32379886-32379886	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.9090delA; p.T3033fs*29; 13:32379886-32379886	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.7977-1G>A; p.?; 13:32363178-32363178	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.9090delA; p.T3033fs*29; 13:32379886-32379886	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2203G>T; p.A735S; 13:32336558-32336558	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.9090delA; p.T3033fs*29; 13:32379886-32379886	stomach	adenocarcinoma	Deletion - Frameshift
c.4092_4093delAT; p.I1364fs*3; 13:32338447-32338448	endometrium	carcinoma	Deletion - Frameshift
c.7407T>G; p.T2469T; 13:32355260-32355260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5125G>T; p.D1709Y; 13:32339480-32339480	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.7746T>C; p.A2582A; 13:32357870-32357870	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5881A>G; p.S1961G; 13:32340236-32340236	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5010T>G; p.A1670A; 13:32339365-32339365	skin	malignant_melanoma	Substitution - coding silent
c.1075G>C; p.E359Q; 13:32332553-32332553	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.9911G>C; p.C3304S; 13:32398424-32398424	breast	carcinoma	Substitution - Missense
c.5555delT; p.C1853fs*10; 13:32339910-32339910	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.4792C>T; p.L1598F; 13:32339147-32339147	skin	malignant_melanoma	Substitution - Missense
c.9924C>G; p.Y3308*; 13:32398437-32398437	breast	carcinoma	Substitution - Nonsense
c.4561C>T; p.L1521L; 13:32338916-32338916	skin	malignant_melanoma	Substitution - coding silent
c.1481T>C; p.V494A; 13:32332959-32332959	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2962G>A; p.D988N; 13:32337317-32337317	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4146A>C; p.E1382D; 13:32338501-32338501	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3049A>G; p.I1017V; 13:32337404-32337404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.794-1G>A; p.?; 13:32332271-32332271	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.7253G>C; p.R2418T; 13:32355106-32355106	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.9331G>A; p.E3111K; 13:32394763-32394763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.346A>C; p.S116R; 13:32325105-32325105	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.9606G>A; p.P3202P; 13:32397002-32397002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.7601C>T; p.A2534V; 13:32356593-32356593	kidney	other; neoplasm	Substitution - Missense
c.9971C>T; p.P3324L; 13:32398484-32398484	skin	malignant_melanoma	Substitution - Missense
c.7260A>G; p.E2420E; 13:32355113-32355113	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1661G>T; p.C554F; 13:32333139-32333139	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1967C>G; p.T656S; 13:32336322-32336322	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.6566A>T; p.N2189I; 13:32340921-32340921	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.587G>T; p.S196I; 13:32326569-32326569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3476G>A; p.C1159Y; 13:32337831-32337831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10127C>G; p.S3376*; 13:32398640-32398640	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1437C>G; p.D479E; 13:32332915-32332915	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.9889G>A; p.A3297T; 13:32398402-32398402	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1988T>C; p.F663S; 13:32336343-32336343	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.4012G>T; p.G1338C; 13:32338367-32338367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4621A>G; p.K1541E; 13:32338976-32338976	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8800C>T; p.Q2934*; 13:32379362-32379362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.476-1G>A; p.?; 13:32326241-32326241	ovary	carcinoma; serous_carcinoma	Unknown
c.2654delA; p.D885fs*10; 13:32337009-32337009	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.205C>T; p.P69S; 13:32319214-32319214	skin; ear	malignant_melanoma	Substitution - Missense
c.7447A>T; p.S2483C; 13:32356439-32356439	liver	carcinoma	Substitution - Missense
c.6920C>T; p.S2307L; 13:32344636-32344636	skin	malignant_melanoma	Substitution - Missense
c.9118-2A>T; p.?; 13:32380005-32380005	liver	carcinoma	Unknown
c.4014C>T; p.G1338G; 13:32338369-32338369	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4014C>T; p.G1338G; 13:32338369-32338369	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7538_7539insA; p.T2515fs*24; 13:32356530-32356531	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4014C>T; p.G1338G; 13:32338369-32338369	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.9247delA; p.T3085fs*19; 13:32380136-32380136	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7242A>G; p.S2414S; 13:32355095-32355095	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4014C>T; p.G1338G; 13:32338369-32338369	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4048C>A; p.H1350N; 13:32338403-32338403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6698C>T; p.A2233V; 13:32341053-32341053	liver	carcinoma	Substitution - Missense
c.8111C>T; p.S2704F; 13:32363313-32363313	skin	malignant_melanoma	Substitution - Missense
c.4314C>T; p.V1438V; 13:32338669-32338669	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6698C>T; p.A2233V; 13:32341053-32341053	liver	carcinoma	Substitution - Missense
c.10070C>G; p.T3357R; 13:32398583-32398583	breast	carcinoma	Substitution - Missense
c.4913A>G; p.K1638R; 13:32339268-32339268	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6946A>C; p.K2316Q; 13:32346835-32346835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.10123A>G; p.S3375G; 13:32398636-32398636	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.9801G>A; p.K3267K; 13:32398314-32398314	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.5173G>T; p.A1725S; 13:32339528-32339528	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.9703G>A; p.A3235T; 13:32398216-32398216	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.938C>A; p.S313Y; 13:32332416-32332416	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4913A>G; p.K1638R; 13:32339268-32339268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8032A>G; p.R2678G; 13:32363234-32363234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.289G>T; p.E97*; 13:32319298-32319298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.841G>T; p.D281Y; 13:32332319-32332319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8032A>G; p.R2678G; 13:32363234-32363234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9937A>C; p.K3313Q; 13:32398450-32398450	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8931T>G; p.Y2977*; 13:32379493-32379493	pancreas	NS	Substitution - Nonsense
c.9248_9256+7del16; p.?; 13:32380137-32380152	ovary	carcinoma	Unknown
c.7963C>T; p.Q2655*; 13:32362680-32362680	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.6201C>T; p.S2067S; 13:32340556-32340556	skin	malignant_melanoma	Substitution - coding silent
c.9997C>G; p.L3333V; 13:32398510-32398510	breast	carcinoma	Substitution - Missense
c.5434G>T; p.E1812*; 13:32339789-32339789	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2451G>T; p.K817N; 13:32336806-32336806	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6406T>G; p.L2136V; 13:32340761-32340761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.9270C>T; p.F3090F; 13:32394702-32394702	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.4778A>G; p.E1593G; 13:32339133-32339133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7417T>C; p.C2473R; 13:32355270-32355270	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5745G>A; p.T1915T; 13:32340100-32340100	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4058_4065delAAACGGAC; p.E1353fs*5; 13:32338413-32338420	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.7703T>G; p.F2568C; 13:32357827-32357827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2344C>A; p.L782I; 13:32336699-32336699	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4127G>A; p.G1376E; 13:32338482-32338482	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4144G>A; p.E1382K; 13:32338499-32338499	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7750G>T; p.G2584C; 13:32357874-32357874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8524C>T; p.R2842C; 13:32370992-32370992	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8524C>T; p.R2842C; 13:32370992-32370992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8526C>T; p.R2842R; 13:32370994-32370994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8360G>A; p.R2787H; 13:32370430-32370430	ovary	carcinoma; mixed_carcinoma	Substitution - Missense
c.8524C>T; p.R2842C; 13:32370992-32370992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4370T>C; p.L1457S; 13:32338725-32338725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8137A>G; p.T2713A; 13:32363339-32363339	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7595C>T; p.P2532L; 13:32356587-32356587	skin; trunk	malignant_melanoma	Substitution - Missense
c.1888A>T; p.T630S; 13:32333366-32333366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2799A>T; p.T933T; 13:32337154-32337154	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4540G>T; p.E1514*; 13:32338895-32338895	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.3804_3806delTGT; p.V1270delV; 13:32338159-32338161	breast	carcinoma	Deletion - In frame
c.8131G>A; p.A2711T; 13:32363333-32363333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2221G>T; p.V741L; 13:32336576-32336576	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3573G>C; p.K1191N; 13:32337928-32337928	breast	carcinoma	Substitution - Missense
c.7805+1G>A; p.?; 13:32357930-32357930	breast	carcinoma	Unknown
c.7244A>G; p.H2415R; 13:32355097-32355097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9480C>T; p.N3160N; 13:32394912-32394912	breast	carcinoma	Substitution - coding silent
c.8458G>A; p.V2820I; 13:32370528-32370528	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1888A>G; p.T630A; 13:32333366-32333366	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.427C>T; p.P143S; 13:32326102-32326102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1806delA; p.I605fs*9; 13:32333284-32333284	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.8033G>T; p.R2678M; 13:32363235-32363235	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7481G>A; p.R2494Q; 13:32356473-32356473	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6241G>C; p.E2081Q; 13:32340596-32340596	urinary_tract; bladder	carcinoma	Substitution - Missense
c.9047C>A; p.S3016Y; 13:32379843-32379843	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.8909G>A; p.W2970*; 13:32379471-32379471	pancreas	carcinoma	Substitution - Nonsense
c.6290C>T; p.T2097M; 13:32340645-32340645	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7481G>A; p.R2494Q; 13:32356473-32356473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7979A>G; p.Y2660C; 13:32363181-32363181	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3475T>A; p.C1159S; 13:32337830-32337830	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.569C>A; p.P190H; 13:32326551-32326551	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2307_2308insAAA; p.L769_I770insK; 13:32336662-32336663	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3599_3600delGT; p.C1200fs*1; 13:32337954-32337955	large_intestine; colon	carcinoma	Deletion - Frameshift
c.9692C>A; p.S3231*; 13:32398205-32398205	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5044A>G; p.S1682G; 13:32339399-32339399	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.569C>A; p.P190H; 13:32326551-32326551	stomach	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]