Entrez Gene

Basic Information
Gene ID	84464
Name	SLX4
Synonymous	SLX4 structure-specific endonuclease subunit;SLX4;SLX4 structure-specific endonuclease subunit
Definition	BTB (POZ) domain containing 12\|BTB/POZ domain-containing protein 12\|SLX4 structure-specific endonuclease subunit homolog\|structure-specific endonuclease subunit SLX4
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 0.09.

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.4028C>T; p.P1343L; 16:3589610-3589610	skin	malignant_melanoma	Substitution - Missense
c.853G>T; p.D285Y; 16:3602215-3602215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2540A>G; p.N847S; 16:3591098-3591098	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3116C>A; p.P1039H; 16:3590522-3590522	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4765C>T; p.R1589C; 16:3583485-3583485	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2120A>C; p.K707T; 16:3594493-3594493	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4951C>T; p.P1651S; 16:3583299-3583299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.396A>G; p.E132E; 16:3608569-3608569	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2142C>T; p.C714C; 16:3594471-3594471	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3895_3896delAG; p.R1299fs*35; 16:3589742-3589743	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.4339G>A; p.G1447S; 16:3589299-3589299	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.810G>C; p.L270F; 16:3602258-3602258	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3310C>T; p.R1104W; 16:3590328-3590328	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1611T>C; p.T537T; 16:3597451-3597451	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3118C>T; p.P1040S; 16:3590520-3590520	skin	malignant_melanoma	Substitution - Missense
c.5192C>T; p.A1731V; 16:3582655-3582655	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2807C>T; p.S936L; 16:3590831-3590831	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.533G>T; p.R178I; 16:3608432-3608432	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2145G>A; p.P715P; 16:3594468-3594468	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1603G>A; p.A535T; 16:3597459-3597459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4836C>T; p.D1612D; 16:3583414-3583414	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4836C>T; p.D1612D; 16:3583414-3583414	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1250C>A; p.P417Q; 16:3597913-3597913	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1044C>A; p.S348R; 16:3601098-3601098	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5033delC; p.P1678fs*37; 16:3583217-3583217	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2097C>T; p.S699S; 16:3594516-3594516	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1044C>A; p.S348R; 16:3601098-3601098	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.605A>C; p.K202T; 16:3606629-3606629	skin	malignant_melanoma	Substitution - Missense
c.2813C>A; p.A938E; 16:3590825-3590825	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.485C>T; p.T162M; 16:3608480-3608480	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.485C>T; p.T162M; 16:3608480-3608480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2460G>T; p.R820S; 16:3591178-3591178	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4591C>T; p.P1531S; 16:3589047-3589047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.185T>C; p.V62A; 16:3608780-3608780	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4756C>T; p.L1586L; 16:3583494-3583494	skin	malignant_melanoma	Substitution - coding silent
c.3662C>T; p.A1221V; 16:3589976-3589976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3950C>T; p.P1317L; 16:3589688-3589688	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5382G>A; p.S1794S; 16:3582465-3582465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5101G>C; p.E1701Q; 16:3583149-3583149	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3425C>T; p.S1142L; 16:3590213-3590213	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2242G>A; p.A748T; 16:3592784-3592784	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3425C>T; p.S1142L; 16:3590213-3590213	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1499C>T; p.T500M; 16:3597563-3597563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5426C>G; p.T1809S; 16:3582421-3582421	breast	carcinoma	Substitution - Missense
c.3849C>T; p.A1283A; 16:3589789-3589789	skin	malignant_melanoma	Substitution - coding silent
c.4856C>T; p.P1619L; 16:3583394-3583394	skin	malignant_melanoma	Substitution - Missense
c.4284G>T; p.W1428C; 16:3589354-3589354	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2874C>T; p.C958C; 16:3590764-3590764	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2874C>T; p.C958C; 16:3590764-3590764	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2848G>A; p.E950K; 16:3590790-3590790	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.113T>C; p.L38P; 16:3608852-3608852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3943A>G; p.T1315A; 16:3589695-3589695	thyroid	other; neoplasm	Substitution - Missense
c.4382C>T; p.A1461V; 16:3589256-3589256	skin	malignant_melanoma	Substitution - Missense
c.2654C>A; p.P885Q; 16:3590984-3590984	skin	malignant_melanoma	Substitution - Missense
c.1403C>T; p.P468L; 16:3597659-3597659	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3012C>T; p.P1004P; 16:3590626-3590626	central_nervous_system; brain	glioma	Substitution - coding silent
c.672G>T; p.L224F; 16:3606562-3606562	breast	carcinoma	Substitution - Missense
c.1378C>T; p.R460C; 16:3597684-3597684	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3850G>A; p.V1284M; 16:3589788-3589788	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3523C>T; p.P1175S; 16:3590115-3590115	skin	malignant_melanoma	Substitution - Missense
c.3850G>A; p.V1284M; 16:3589788-3589788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1749G>C; p.R583S; 16:3596328-3596328	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4019A>G; p.H1340R; 16:3589619-3589619	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.5249C>T; p.A1750V; 16:3582598-3582598	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4803C>A; p.Y1601*; 16:3583447-3583447	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2192A>G; p.D731G; 16:3592834-3592834	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1500G>A; p.T500T; 16:3597562-3597562	ovary	other; neoplasm	Substitution - coding silent
c.4217C>T; p.S1406F; 16:3589421-3589421	NS	malignant_melanoma	Substitution - Missense
c.3056C>G; p.S1019C; 16:3590582-3590582	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1443A>G; p.R481R; 16:3597619-3597619	prostate	carcinoma	Substitution - coding silent
c.3445G>T; p.D1149Y; 16:3590193-3590193	breast	carcinoma	Substitution - Missense
c.4685C>T; p.P1562L; 16:3584823-3584823	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2966C>G; p.S989*; 16:3590672-3590672	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.5015A>G; p.H1672R; 16:3583235-3583235	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2844G>A; p.A948A; 16:3590794-3590794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1673G>A; p.R558Q; 16:3597389-3597389	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5371C>T; p.R1791C; 16:3582476-3582476	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3584T>A; p.I1195N; 16:3590054-3590054	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2955G>T; p.Q985H; 16:3590683-3590683	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2347G>A; p.V783I; 16:3591291-3591291	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2047G>A; p.A683T; 16:3594566-3594566	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2750C>T; p.A917V; 16:3590888-3590888	skin	malignant_melanoma	Substitution - Missense
c.398C>T; p.P133L; 16:3608567-3608567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2918C>T; p.S973F; 16:3590720-3590720	skin	malignant_melanoma	Substitution - Missense
c.2491G>T; p.E831*; 16:3591147-3591147	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.398C>T; p.P133L; 16:3608567-3608567	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.723C>G; p.V241V; 16:3606511-3606511	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2906G>T; p.R969I; 16:3590732-3590732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.398C>T; p.P133L; 16:3608567-3608567	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4636+1G>C; p.?; 16:3589001-3589001	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Unknown
c.3367T>C; p.S1123P; 16:3590271-3590271	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.503C>A; p.P168Q; 16:3608462-3608462	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3179G>A; p.R1060Q; 16:3590459-3590459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.903G>T; p.K301N; 16:3602165-3602165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4038C>T; p.P1346P; 16:3589600-3589600	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.753G>C; p.A251A; 16:3606481-3606481	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4255C>T; p.P1419S; 16:3589383-3589383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4636+5G>A; p.?; 16:3588997-3588997	liver	carcinoma	Unknown
c.428T>A; p.V143E; 16:3608537-3608537	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2489C>T; p.A830V; 16:3591149-3591149	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2454C>T; p.L818L; 16:3591184-3591184	skin	malignant_melanoma	Substitution - coding silent
c.2346C>T; p.L782L; 16:3591292-3591292	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4636+5G>A; p.?; 16:3588997-3588997	liver	carcinoma	Unknown
c.1368G>C; p.E456D; 16:3597694-3597694	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1250C>T; p.P417L; 16:3597913-3597913	skin	malignant_melanoma	Substitution - Missense
c.4401T>C; p.C1467C; 16:3589237-3589237	liver	carcinoma	Substitution - coding silent
c.2200C>T; p.L734L; 16:3592826-3592826	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3166delC; p.L1056fs*60; 16:3590472-3590472	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.314G>T; p.G105V; 16:3608651-3608651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1471C>T; p.L491F; 16:3597591-3597591	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2967A>T; p.S989S; 16:3590671-3590671	ovary	other; neoplasm	Substitution - coding silent
c.3626G>C; p.R1209T; 16:3590012-3590012	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.553G>T; p.D185Y; 16:3606681-3606681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1511C>A; p.P504H; 16:3597551-3597551	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2967A>T; p.S989S; 16:3590671-3590671	ovary	other; neoplasm	Substitution - coding silent
c.2967A>T; p.S989S; 16:3590671-3590671	ovary	other; neoplasm	Substitution - coding silent
c.2990C>T; p.P997L; 16:3590648-3590648	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2815C>T; p.R939W; 16:3590823-3590823	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2259C>G; p.H753Q; 16:3592767-3592767	ovary	other; neoplasm	Substitution - Missense
c.4381_4391del11; p.A1461fs*2; 16:3589247-3589257	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2259C>G; p.H753Q; 16:3592767-3592767	ovary	other; neoplasm	Substitution - Missense
c.3439_3441delGAA; p.E1148delE; 16:3590197-3590199	lung	carcinoma; non_small_cell_carcinoma	Deletion - In frame
c.3382C>A; p.Q1128K; 16:3590256-3590256	skin; leg	malignant_melanoma	Substitution - Missense
c.926C>A; p.T309N; 16:3602142-3602142	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1458T>A; p.R486R; 16:3597604-3597604	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2617G>A; p.A873T; 16:3591021-3591021	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1514C>T; p.A505V; 16:3597548-3597548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1335T>G; p.S445R; 16:3597828-3597828	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2439G>T; p.E813D; 16:3591199-3591199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2439G>T; p.E813D; 16:3591199-3591199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4894C>T; p.Q1632*; 16:3583356-3583356	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.929G>A; p.R310Q; 16:3602139-3602139	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.671T>C; p.L224S; 16:3606563-3606563	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1098C>T; p.L366L; 16:3601044-3601044	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.2398T>C; p.W800R; 16:3591240-3591240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3178C>T; p.R1060W; 16:3590460-3590460	skin	malignant_melanoma	Substitution - Missense
c.2628C>T; p.D876D; 16:3591010-3591010	stomach	adenocarcinoma	Substitution - coding silent
c.4478C>T; p.S1493L; 16:3589160-3589160	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1415T>C; p.L472S; 16:3597647-3597647	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.3178C>T; p.R1060W; 16:3590460-3590460	pancreas	carcinoma; adenocarcinoma	Substitution - Missense
c.2628C>T; p.D876D; 16:3591010-3591010	pancreas	carcinoma	Substitution - coding silent
c.4478C>T; p.S1493L; 16:3589160-3589160	ovary	other; neoplasm	Substitution - Missense
c.2958C>T; p.L986L; 16:3590680-3590680	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1192C>T; p.R398W; 16:3597971-3597971	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4407C>T; p.S1469S; 16:3589231-3589231	skin	malignant_melanoma	Substitution - coding silent
c.2854G>A; p.A952T; 16:3590784-3590784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4207G>A; p.E1403K; 16:3589431-3589431	skin	malignant_melanoma	Substitution - Missense
c.3800G>A; p.R1267H; 16:3589838-3589838	breast	carcinoma	Substitution - Missense
c.832C>T; p.R278W; 16:3602236-3602236	prostate	carcinoma	Substitution - Missense
c.5090C>T; p.P1697L; 16:3583160-3583160	skin	malignant_melanoma	Substitution - Missense
c.2305G>C; p.E769Q; 16:3592721-3592721	thyroid	carcinoma	Substitution - Missense
c.3868C>A; p.H1290N; 16:3589770-3589770	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3721C>T; p.R1241C; 16:3589917-3589917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3269C>T; p.T1090M; 16:3590369-3590369	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.457C>A; p.L153I; 16:3608508-3608508	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5163C>T; p.S1721S; 16:3582684-3582684	skin	malignant_melanoma	Substitution - coding silent
c.2809G>T; p.G937W; 16:3590829-3590829	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1010C>T; p.P337L; 16:3601132-3601132	pancreas	carcinoma	Substitution - Missense
c.1183G>T; p.G395C; 16:3597980-3597980	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.679G>A; p.A227T; 16:3606555-3606555	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4339G>T; p.G1447C; 16:3589299-3589299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1695_1696GG>AA; p.E566K; 16:3596381-3596382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3812C>T; p.S1271F; 16:3589826-3589826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4814_4815CC>TT; p.T1605I; 16:3583435-3583436	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2469G>A; p.W823*; 16:3591169-3591169	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3583A>G; p.I1195V; 16:3590055-3590055	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1941C>T; p.P647P; 16:3595677-3595677	skin	malignant_melanoma	Substitution - coding silent
c.5338G>A; p.E1780K; 16:3582509-3582509	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1941C>T; p.P647P; 16:3595677-3595677	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4862_4863delTG; p.L1621fs*34; 16:3583387-3583388	pleura	pulmonary_blastoma	Deletion - Frameshift
c.1941C>T; p.P647P; 16:3595677-3595677	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3631G>A; p.E1211K; 16:3590007-3590007	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2911G>T; p.E971*; 16:3590727-3590727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1240G>A; p.D414N; 16:3597923-3597923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1240G>A; p.D414N; 16:3597923-3597923	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4686G>A; p.P1562P; 16:3584822-3584822	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2517C>T; p.H839H; 16:3591121-3591121	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1179T>C; p.S393S; 16:3597984-3597984	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1179T>C; p.S393S; 16:3597984-3597984	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4259delC; p.P1420fs*30; 16:3589379-3589379	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3160T>A; p.S1054T; 16:3590478-3590478	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5159C>T; p.S1720F; 16:3582688-3582688	skin	malignant_melanoma	Substitution - Missense
c.4483G>A; p.A1495T; 16:3589155-3589155	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.921C>T; p.N307N; 16:3602147-3602147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.921C>T; p.N307N; 16:3602147-3602147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4483G>A; p.A1495T; 16:3589155-3589155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1245G>T; p.E415D; 16:3597918-3597918	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.106G>A; p.E36K; 16:3608859-3608859	breast	carcinoma	Substitution - Missense
c.3123G>A; p.Q1041Q; 16:3590515-3590515	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1242C>T; p.D414D; 16:3597921-3597921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3470C>T; p.S1157L; 16:3590168-3590168	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1242C>T; p.D414D; 16:3597921-3597921	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1242C>T; p.D414D; 16:3597921-3597921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2482G>A; p.E828K; 16:3591156-3591156	skin	malignant_melanoma	Substitution - Missense
c.1932C>T; p.D644D; 16:3595686-3595686	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4031C>T; p.S1344F; 16:3589607-3589607	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2551A>G; p.M851V; 16:3591087-3591087	skin	malignant_melanoma	Substitution - Missense
c.4439G>A; p.G1480E; 16:3589199-3589199	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1153C>T; p.P385S; 16:3600989-3600989	skin; trunk	malignant_melanoma	Substitution - Missense
c.1654C>T; p.P552S; 16:3597408-3597408	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3961C>T; p.P1321S; 16:3589677-3589677	skin	malignant_melanoma	Substitution - Missense
c.4097G>A; p.R1366H; 16:3589541-3589541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2193C>T; p.D731D; 16:3592833-3592833	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2193C>T; p.D731D; 16:3592833-3592833	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.5252A>G; p.D1751G; 16:3582595-3582595	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3234G>C; p.V1078V; 16:3590404-3590404	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3234G>C; p.V1078V; 16:3590404-3590404	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2193C>T; p.D731D; 16:3592833-3592833	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1630G>T; p.D544Y; 16:3597432-3597432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1241A>G; p.D414G; 16:3597922-3597922	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2848G>C; p.E950Q; 16:3590790-3590790	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5335C>T; p.R1779W; 16:3582512-3582512	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5335C>T; p.R1779W; 16:3582512-3582512	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4596C>T; p.S1532S; 16:3589042-3589042	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2034T>G; p.V678V; 16:3594579-3594579	skin	malignant_melanoma	Substitution - coding silent
c.3089C>T; p.P1030L; 16:3590549-3590549	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.795C>T; p.D265D; 16:3602273-3602273	liver	carcinoma	Substitution - coding silent
c.688G>A; p.E230K; 16:3606546-3606546	urinary_tract; bladder	carcinoma	Substitution - Missense
c.795C>T; p.D265D; 16:3602273-3602273	liver	carcinoma	Substitution - coding silent
c.4492C>A; p.L1498M; 16:3589146-3589146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4227C>G; p.A1409A; 16:3589411-3589411	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2137C>A; p.R713R; 16:3594476-3594476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5281C>T; p.R1761C; 16:3582566-3582566	skin	malignant_melanoma	Substitution - Missense
c.3134C>T; p.P1045L; 16:3590504-3590504	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3942G>A; p.Q1314Q; 16:3589696-3589696	thyroid	other; neoplasm	Substitution - coding silent
c.2454C>A; p.L818L; 16:3591184-3591184	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2542G>A; p.E848K; 16:3591096-3591096	breast	carcinoma	Substitution - Missense
c.2098G>A; p.G700R; 16:3594515-3594515	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.4829C>T; p.S1610F; 16:3583421-3583421	skin	malignant_melanoma	Substitution - Missense
c.384G>A; p.W128*; 16:3608581-3608581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3902G>A; p.G1301E; 16:3589736-3589736	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2991G>A; p.P997P; 16:3590647-3590647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4577C>A; p.P1526H; 16:3589061-3589061	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4524G>A; p.S1508S; 16:3589114-3589114	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4750C>T; p.R1584C; 16:3583500-3583500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3358A>C; p.K1120Q; 16:3590280-3590280	skin	malignant_melanoma	Substitution - Missense
c.416G>T; p.G139V; 16:3608549-3608549	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3308G>A; p.R1103H; 16:3590330-3590330	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1888G>A; p.G630S; 16:3596189-3596189	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3714C>T; p.F1238F; 16:3589924-3589924	skin	malignant_melanoma	Substitution - coding silent
c.1506A>G; p.P502P; 16:3597556-3597556	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.611G>A; p.R204H; 16:3606623-3606623	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.611G>A; p.R204H; 16:3606623-3606623	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4333C>T; p.R1445W; 16:3589305-3589305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3184C>T; p.R1062C; 16:3590454-3590454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3472G>A; p.D1158N; 16:3590166-3590166	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3676C>T; p.R1226W; 16:3589962-3589962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4584C>A; p.A1528A; 16:3589054-3589054	liver	carcinoma	Substitution - coding silent
c.486G>T; p.T162T; 16:3608479-3608479	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3676C>T; p.R1226W; 16:3589962-3589962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4584C>A; p.A1528A; 16:3589054-3589054	liver	carcinoma	Substitution - coding silent
c.514C>T; p.L172F; 16:3608451-3608451	skin	malignant_melanoma	Substitution - Missense
c.4523C>T; p.S1508L; 16:3589115-3589115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4523C>T; p.S1508L; 16:3589115-3589115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.111C>A; p.S37R; 16:3608854-3608854	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1887C>T; p.P629P; 16:3596190-3596190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2562T>G; p.I854M; 16:3591076-3591076	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4034G>A; p.R1345H; 16:3589604-3589604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1745G>A; p.R582Q; 16:3596332-3596332	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1976C>T; p.S659L; 16:3595642-3595642	skin	malignant_melanoma	Substitution - Missense
c.2912A>G; p.E971G; 16:3590726-3590726	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1319C>T; p.A440V; 16:3597844-3597844	pancreas	carcinoma	Substitution - Missense
c.1518C>T; p.S506S; 16:3597544-3597544	pancreas	carcinoma	Substitution - coding silent
c.3848C>T; p.A1283V; 16:3589790-3589790	skin; hand	malignant_melanoma	Substitution - Missense
c.518C>G; p.S173C; 16:3608447-3608447	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.209T>A; p.V70E; 16:3608756-3608756	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4258C>T; p.P1420S; 16:3589380-3589380	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2856G>T; p.A952A; 16:3590782-3590782	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2982C>A; p.I994I; 16:3590656-3590656	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3121C>T; p.Q1041*; 16:3590517-3590517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3945A>T; p.T1315T; 16:3589693-3589693	thyroid	other; neoplasm	Substitution - coding silent
c.3183C>T; p.S1061S; 16:3590455-3590455	skin	malignant_melanoma	Substitution - coding silent
c.4868C>T; p.A1623V; 16:3583382-3583382	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4043C>T; p.P1348L; 16:3589595-3589595	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4272C>T; p.D1424D; 16:3589366-3589366	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1320G>A; p.A440A; 16:3597843-3597843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4994C>T; p.P1665L; 16:3583256-3583256	skin	malignant_melanoma	Substitution - Missense
c.3536A>C; p.K1179T; 16:3590102-3590102	pancreas	carcinoma	Substitution - Missense
c.2878A>G; p.S960G; 16:3590760-3590760	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2253C>T; p.F751F; 16:3592773-3592773	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1355G>C; p.R452T; 16:3597808-3597808	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3465G>A; p.L1155L; 16:3590173-3590173	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1352T>C; p.I451T; 16:3597811-3597811	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5208C>T; p.G1736G; 16:3582639-3582639	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5246C>T; p.A1749V; 16:3582601-3582601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5481C>T; p.G1827G; 16:3582366-3582366	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3739G>A; p.E1247K; 16:3589899-3589899	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.709C>T; p.R237W; 16:3606525-3606525	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.800C>T; p.A267V; 16:3602268-3602268	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.709C>T; p.R237W; 16:3606525-3606525	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.709C>T; p.R237W; 16:3606525-3606525	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3529G>T; p.E1177*; 16:3590109-3590109	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.561G>T; p.Q187H; 16:3606673-3606673	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3667C>T; p.P1223S; 16:3589971-3589971	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3648G>C; p.Q1216H; 16:3589990-3589990	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1222C>T; p.R408W; 16:3597941-3597941	ovary	other; neoplasm	Substitution - Missense
c.1222C>T; p.R408W; 16:3597941-3597941	ovary	other; neoplasm	Substitution - Missense
c.3669G>A; p.P1223P; 16:3589969-3589969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2449G>A; p.E817K; 16:3591189-3591189	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2178C>A; p.F726L; 16:3592848-3592848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4834G>A; p.D1612N; 16:3583416-3583416	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3062G>A; p.R1021H; 16:3590576-3590576	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3840C>T; p.S1280S; 16:3589798-3589798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2949C>T; p.Y983Y; 16:3590689-3590689	central_nervous_system; brain	glioma	Substitution - coding silent
c.5007G>A; p.R1669R; 16:3583243-3583243	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4016G>A; p.G1339D; 16:3589622-3589622	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2518G>C; p.E840Q; 16:3591120-3591120	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.826T>C; p.F276L; 16:3602242-3602242	skin	malignant_melanoma	Substitution - Missense
c.4701C>T; p.S1567S; 16:3584807-3584807	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.470C>T; p.A157V; 16:3608495-3608495	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3246G>A; p.Q1082Q; 16:3590392-3590392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4249A>G; p.S1417G; 16:3589389-3589389	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3896G>T; p.R1299M; 16:3589742-3589742	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4881G>C; p.Q1627H; 16:3583369-3583369	breast	carcinoma	Substitution - Missense
c.1277C>A; p.A426D; 16:3597886-3597886	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2246G>T; p.R749L; 16:3592780-3592780	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5042C>T; p.S1681L; 16:3583208-3583208	skin	malignant_melanoma	Substitution - Missense
c.2677G>T; p.G893C; 16:3590961-3590961	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4265C>T; p.P1422L; 16:3589373-3589373	skin	malignant_melanoma	Substitution - Missense
c.2090C>T; p.T697M; 16:3594523-3594523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.735T>G; p.P245P; 16:3606499-3606499	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4384G>A; p.A1462T; 16:3589254-3589254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3401C>T; p.S1134L; 16:3590237-3590237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3401C>T; p.S1134L; 16:3590237-3590237	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4480G>A; p.G1494S; 16:3589158-3589158	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3162G>A; p.S1054S; 16:3590476-3590476	breast	carcinoma	Substitution - coding silent
c.1353A>G; p.I451M; 16:3597810-3597810	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2388G>T; p.E796D; 16:3591250-3591250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2143C>T; p.P715S; 16:3594470-3594470	skin	malignant_melanoma	Substitution - Missense
c.3190G>A; p.G1064R; 16:3590448-3590448	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3913G>A; p.A1305T; 16:3589725-3589725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.846G>C; p.S282S; 16:3602222-3602222	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3428C>T; p.S1143F; 16:3590210-3590210	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3090G>A; p.P1030P; 16:3590548-3590548	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.417G>A; p.G139G; 16:3608548-3608548	liver	carcinoma	Substitution - coding silent
c.5238C>T; p.A1746A; 16:3582609-3582609	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2521G>C; p.E841Q; 16:3591117-3591117	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.413_420delATGGGGAG; p.N138fs*24; 16:3608545-3608552	prostate	carcinoma	Deletion - Frameshift
c.66C>T; p.A22A; 16:3608899-3608899	skin	malignant_melanoma	Substitution - coding silent
c.3944C>T; p.T1315I; 16:3589694-3589694	thyroid	other; neoplasm	Substitution - Missense
c.1110T>A; p.A370A; 16:3601032-3601032	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.430C>T; p.L144F; 16:3608535-3608535	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.139T>C; p.S47P; 16:3608826-3608826	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3661G>T; p.A1221S; 16:3589977-3589977	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1833C>T; p.A611A; 16:3596244-3596244	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3583_3585delATT; p.I1195delI; 16:3590053-3590055	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Deletion - In frame
c.835G>A; p.V279I; 16:3602233-3602233	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4037C>T; p.P1346L; 16:3589601-3589601	skin	malignant_melanoma	Substitution - Missense
c.3105C>T; p.F1035F; 16:3590533-3590533	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3683C>T; p.S1228F; 16:3589955-3589955	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4379_4389del11; p.A1461fs*2; 16:3589249-3589259	large_intestine; colon	carcinoma	Deletion - Frameshift
c.4671A>C; p.K1557N; 16:3584837-3584837	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.922G>A; p.V308M; 16:3602146-3602146	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2855C>T; p.A952V; 16:3590783-3590783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3781C>T; p.P1261S; 16:3589857-3589857	skin	malignant_melanoma	Substitution - Missense
c.3781C>T; p.P1261S; 16:3589857-3589857	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5032C>T; p.P1678S; 16:3583218-3583218	prostate	carcinoma	Substitution - Missense
c.5336G>A; p.R1779Q; 16:3582511-3582511	skin	malignant_melanoma	Substitution - Missense
c.2843C>T; p.A948V; 16:3590795-3590795	liver	carcinoma	Substitution - Missense
c.3119C>T; p.P1040L; 16:3590519-3590519	skin	malignant_melanoma	Substitution - Missense
c.2843C>T; p.A948V; 16:3590795-3590795	skin	malignant_melanoma	Substitution - Missense
c.362A>G; p.K121R; 16:3608603-3608603	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2843C>T; p.A948V; 16:3590795-3590795	liver	carcinoma	Substitution - Missense
c.3G>T; p.M1I; 16:3608962-3608962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4486G>T; p.G1496C; 16:3589152-3589152	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3027C>T; p.G1009G; 16:3590611-3590611	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4530G>T; p.L1510L; 16:3589108-3589108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.335C>T; p.P112L; 16:3608630-3608630	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3027C>T; p.G1009G; 16:3590611-3590611	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.722T>C; p.V241A; 16:3606512-3606512	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4237C>T; p.P1413S; 16:3589401-3589401	skin	malignant_melanoma	Substitution - Missense
c.3772_3774delCCC; p.P1258delP; 16:3589864-3589866	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.722T>C; p.V241A; 16:3606512-3606512	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3310C>A; p.R1104R; 16:3590328-3590328	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4241delC; p.P1414fs*36; 16:3589397-3589397	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2124C>T; p.F708F; 16:3594489-3594489	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2335G>A; p.V779M; 16:3591303-3591303	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3383A>C; p.Q1128P; 16:3590255-3590255	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4665C>T; p.P1555P; 16:3584843-3584843	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]