General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 5178 |
Name | PEG3 |
Synonymous | paternally expressed 3;PEG3;paternally expressed 3 |
Definition | Kruppel-type zinc finger protein|paternally-expressed gene 3 protein|zinc finger and SCAN domain-containing protein 24 |
Position | 19q13.4 |
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 | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.07. |
The copy number variations for various cancers | Top |
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 |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.4378G>T; p.D1460Y; 19:56814064-56814064 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1599G>A; p.V533V; 19:56816843-56816843 |
skin | malignant_melanoma | Substitution - coding silent |
c.703G>A; p.A235T; 19:56818669-56818669 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3348T>C; p.F1116F; 19:56815094-56815094 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3759G>A; p.L1253L; 19:56814683-56814683 |
skin | malignant_melanoma | Substitution - coding silent |
c.3326G>A; p.C1109Y; 19:56815116-56815116 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.703G>A; p.A235T; 19:56818669-56818669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.703G>A; p.A235T; 19:56818669-56818669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1209G>T; p.S403S; 19:56817233-56817233 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2244G>T; p.K748N; 19:56816198-56816198 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.420C>T; p.S140S; 19:56823654-56823654 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.548C>T; p.T183I; 19:56822770-56822770 |
skin | malignant_melanoma | Substitution - Missense |
c.420C>T; p.S140S; 19:56823654-56823654 |
thyroid | other; neoplasm | Substitution - coding silent |
c.420C>T; p.S140S; 19:56823654-56823654 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.3665G>T; p.G1222V; 19:56814777-56814777 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.600G>T; p.V200V; 19:56821720-56821720 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.4521C>T; p.C1507C; 19:56813921-56813921 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4236A>G; p.E1412E; 19:56814206-56814206 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2412G>T; p.E804D; 19:56816030-56816030 |
ovary | other; neoplasm | Substitution - Missense |
c.2993G>A; p.G998E; 19:56815449-56815449 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3440C>G; p.T1147S; 19:56815002-56815002 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1089G>C; p.Q363H; 19:56817353-56817353 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3221A>G; p.H1074R; 19:56815221-56815221 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3175C>T; p.H1059Y; 19:56815267-56815267 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1652G>T; p.S551I; 19:56816790-56816790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4593C>G; p.I1531M; 19:56813849-56813849 |
breast | carcinoma | Substitution - Missense |
c.2318C>T; p.S773L; 19:56816124-56816124 |
skin | malignant_melanoma | Substitution - Missense |
c.1804C>G; p.R602G; 19:56816638-56816638 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1263G>C; p.E421D; 19:56817179-56817179 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1960C>A; p.P654T; 19:56816482-56816482 |
breast | carcinoma | Substitution - Missense |
c.2318C>T; p.S773L; 19:56816124-56816124 |
skin | malignant_melanoma | Substitution - Missense |
c.2318C>T; p.S773L; 19:56816124-56816124 |
skin | malignant_melanoma | Substitution - Missense |
c.2893C>T; p.R965*; 19:56815549-56815549 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4315C>A; p.P1439T; 19:56814127-56814127 |
liver | carcinoma | Substitution - Missense |
c.893C>T; p.S298L; 19:56817549-56817549 |
skin | malignant_melanoma | Substitution - Missense |
c.2847C>T; p.T949T; 19:56815595-56815595 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1213C>A; p.H405N; 19:56817229-56817229 |
skin | malignant_melanoma | Substitution - Missense |
c.3643G>C; p.E1215Q; 19:56814799-56814799 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2893C>T; p.R965*; 19:56815549-56815549 |
breast | carcinoma | Substitution - Nonsense |
c.181C>A; p.R61R; 19:56824475-56824475 |
skin | malignant_melanoma | Substitution - coding silent |
c.4315C>A; p.P1439T; 19:56814127-56814127 |
liver | carcinoma | Substitution - Missense |
c.535C>T; p.R179C; 19:56822783-56822783 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.993A>G; p.A331A; 19:56817449-56817449 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.535C>T; p.R179C; 19:56822783-56822783 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2330C>T; p.S777F; 19:56816112-56816112 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1344G>T; p.G448G; 19:56817098-56817098 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.128A>C; p.E43A; 19:56824528-56824528 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1615G>A; p.E539K; 19:56816827-56816827 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2330C>T; p.S777F; 19:56816112-56816112 |
skin | malignant_melanoma | Substitution - Missense |
c.1615G>A; p.E539K; 19:56816827-56816827 |
skin | malignant_melanoma | Substitution - Missense |
c.1615G>A; p.E539K; 19:56816827-56816827 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1615G>A; p.E539K; 19:56816827-56816827 |
skin | malignant_melanoma | Substitution - Missense |
c.3243G>A; p.Q1081Q; 19:56815199-56815199 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3802G>T; p.A1268S; 19:56814640-56814640 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3802G>T; p.A1268S; 19:56814640-56814640 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3802G>T; p.A1268S; 19:56814640-56814640 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.182G>T; p.R61L; 19:56824474-56824474 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2788C>T; p.R930C; 19:56815654-56815654 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2880A>C; p.Q960H; 19:56815562-56815562 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1865G>C; p.G622A; 19:56816577-56816577 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4298T>C; p.I1433T; 19:56814144-56814144 |
breast | carcinoma | Substitution - Missense |
c.3205G>T; p.D1069Y; 19:56815237-56815237 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3098G>T; p.C1033F; 19:56815344-56815344 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.875T>A; p.M292K; 19:56817567-56817567 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4393G>A; p.A1465T; 19:56814049-56814049 |
skin | malignant_melanoma | Substitution - Missense |
c.1810C>T; p.R604C; 19:56816632-56816632 |
breast | carcinoma | Substitution - Missense |
c.3860G>T; p.C1287F; 19:56814582-56814582 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.176G>T; p.G59V; 19:56824480-56824480 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4749G>A; p.Q1583Q; 19:56813693-56813693 |
skin | malignant_melanoma | Substitution - coding silent |
c.1810C>T; p.R604C; 19:56816632-56816632 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1314C>T; p.S438S; 19:56817128-56817128 |
skin; mucosal | malignant_melanoma | Substitution - coding silent |
c.809C>T; p.T270M; 19:56817799-56817799 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2072G>A; p.R691Q; 19:56816370-56816370 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.809C>T; p.T270M; 19:56817799-56817799 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2044G>A; p.E682K; 19:56816398-56816398 |
skin | malignant_melanoma | Substitution - Missense |
c.809C>T; p.T270M; 19:56817799-56817799 |
pancreas | carcinoma | Substitution - Missense |
c.1495C>A; p.Q499K; 19:56816947-56816947 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2766C>A; p.F922L; 19:56815676-56815676 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.277C>A; p.Q93K; 19:56824379-56824379 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1435C>T; p.L479F; 19:56817007-56817007 |
skin | malignant_melanoma | Substitution - Missense |
c.809C>T; p.T270M; 19:56817799-56817799 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.809C>T; p.T270M; 19:56817799-56817799 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2720G>C; p.S907T; 19:56815722-56815722 |
skin | malignant_melanoma | Substitution - Missense |
c.2422C>T; p.Q808*; 19:56816020-56816020 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1882G>A; p.E628K; 19:56816560-56816560 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3640G>T; p.A1214S; 19:56814802-56814802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.906G>T; p.R302R; 19:56817536-56817536 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4195G>A; p.V1399M; 19:56814247-56814247 |
skin | malignant_melanoma | Substitution - Missense |
c.4577C>A; p.T1526N; 19:56813865-56813865 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1892T>G; p.V631G; 19:56816550-56816550 |
breast | carcinoma | Substitution - Missense |
c.1343G>T; p.G448V; 19:56817099-56817099 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1462C>T; p.H488Y; 19:56816980-56816980 |
skin | malignant_melanoma | Substitution - Missense |
c.2388C>A; p.P796P; 19:56816054-56816054 |
skin | malignant_melanoma | Substitution - coding silent |
c.3023G>A; p.R1008H; 19:56815419-56815419 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1555G>A; p.A519T; 19:56816887-56816887 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4671T>C; p.N1557N; 19:56813771-56813771 |
liver | carcinoma | Substitution - coding silent |
c.4281A>G; p.G1427G; 19:56814161-56814161 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3023G>A; p.R1008H; 19:56815419-56815419 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4671T>C; p.N1557N; 19:56813771-56813771 |
liver | carcinoma | Substitution - coding silent |
c.3898C>T; p.H1300Y; 19:56814544-56814544 |
skin | malignant_melanoma | Substitution - Missense |
c.4430G>T; p.G1477V; 19:56814012-56814012 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1852C>T; p.Q618*; 19:56816590-56816590 |
skin | malignant_melanoma | Substitution - Nonsense |
c.320G>A; p.R107Q; 19:56824336-56824336 |
pancreas | carcinoma | Substitution - Missense |
c.1571G>A; p.R524Q; 19:56816871-56816871 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1571G>A; p.R524Q; 19:56816871-56816871 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.320G>A; p.R107Q; 19:56824336-56824336 |
pancreas | carcinoma | Substitution - Missense |
c.186G>A; p.K62K; 19:56824470-56824470 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.320G>A; p.R107Q; 19:56824336-56824336 |
skin | malignant_melanoma | Substitution - Missense |
c.2592T>A; p.Y864*; 19:56815850-56815850 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2481A>G; p.G827G; 19:56815961-56815961 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1571G>A; p.R524Q; 19:56816871-56816871 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.320G>A; p.R107Q; 19:56824336-56824336 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.320G>A; p.R107Q; 19:56824336-56824336 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.148C>T; p.R50W; 19:56824508-56824508 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.74G>A; p.S25N; 19:56824582-56824582 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2979G>A; p.R993R; 19:56815463-56815463 |
skin | malignant_melanoma | Substitution - coding silent |
c.4734C>T; p.S1578S; 19:56813708-56813708 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.795C>T; p.G265G; 19:56817813-56817813 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4734C>T; p.S1578S; 19:56813708-56813708 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4005G>T; p.K1335N; 19:56814437-56814437 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.836G>T; p.R279I; 19:56817772-56817772 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1781G>T; p.R594L; 19:56816661-56816661 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3893C>T; p.A1298V; 19:56814549-56814549 |
pancreas | carcinoma | Substitution - Missense |
c.3110G>T; p.R1037I; 19:56815332-56815332 |
liver | carcinoma | Substitution - Missense |
c.4555G>T; p.A1519S; 19:56813887-56813887 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1811G>A; p.R604H; 19:56816631-56816631 |
pancreas | NS | Substitution - Missense |
c.3110G>T; p.R1037I; 19:56815332-56815332 |
liver | carcinoma | Substitution - Missense |
c.1811G>A; p.R604H; 19:56816631-56816631 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.132T>G; p.F44L; 19:56824524-56824524 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1811G>A; p.R604H; 19:56816631-56816631 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1811G>A; p.R604H; 19:56816631-56816631 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3292C>A; p.Q1098K; 19:56815150-56815150 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1400T>G; p.F467C; 19:56817042-56817042 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.351C>T; p.L117L; 19:56824305-56824305 |
skin | malignant_melanoma | Substitution - coding silent |
c.2450G>A; p.R817K; 19:56815992-56815992 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4578T>G; p.T1526T; 19:56813864-56813864 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4578T>G; p.T1526T; 19:56813864-56813864 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2888G>A; p.R963H; 19:56815554-56815554 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4309G>A; p.G1437R; 19:56814133-56814133 |
skin | malignant_melanoma | Substitution - Missense |
c.3723T>G; p.N1241K; 19:56814719-56814719 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2888G>A; p.R963H; 19:56815554-56815554 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1458_1459insTTT; p.F486_I487insF; 19:56816983-56816984 |
large_intestine | carcinoma; adenocarcinoma | Insertion - In frame |
c.1568A>T; p.H523L; 19:56816874-56816874 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.351C>T; p.L117L; 19:56824305-56824305 |
skin | malignant_melanoma | Substitution - coding silent |
c.1410C>T; p.H470H; 19:56817032-56817032 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4762G>A; p.G1588S; 19:56813680-56813680 |
skin | malignant_melanoma | Substitution - Missense |
c.719C>T; p.P240L; 19:56818653-56818653 |
pancreas | carcinoma | Substitution - Missense |
c.2368A>T; p.S790C; 19:56816074-56816074 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091G>T; p.R364L; 19:56817351-56817351 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1410C>T; p.H470H; 19:56817032-56817032 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.719C>T; p.P240L; 19:56818653-56818653 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2002C>T; p.P668S; 19:56816440-56816440 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.3484C>T; p.L1162L; 19:56814958-56814958 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3495T>C; p.C1165C; 19:56814947-56814947 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.978C>T; p.S326S; 19:56817464-56817464 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2861C>A; p.S954Y; 19:56815581-56815581 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2887C>T; p.R963C; 19:56815555-56815555 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2887C>T; p.R963C; 19:56815555-56815555 |
skin | malignant_melanoma | Substitution - Missense |
c.2990C>T; p.S997F; 19:56815452-56815452 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1886G>C; p.C629S; 19:56816556-56816556 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1683A>G; p.K561K; 19:56816759-56816759 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2578G>T; p.E860*; 19:56815864-56815864 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2595C>T; p.I865I; 19:56815847-56815847 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1792C>T; p.R598C; 19:56816650-56816650 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4438G>A; p.D1480N; 19:56814004-56814004 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>T; p.R167W; 19:56822819-56822819 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.195C>T; p.I65I; 19:56824461-56824461 |
skin | malignant_melanoma | Substitution - coding silent |
c.4469C>A; p.P1490Q; 19:56813973-56813973 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2238C>A; p.D746E; 19:56816204-56816204 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.25G>T; p.A9S; 19:56824631-56824631 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3713C>A; p.S1238Y; 19:56814729-56814729 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4032C>G; p.S1344R; 19:56814410-56814410 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3086C>T; p.A1029V; 19:56815356-56815356 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169G>T; p.R390I; 19:56817273-56817273 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3086C>T; p.A1029V; 19:56815356-56815356 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1632C>T; p.F544F; 19:56816810-56816810 |
skin | malignant_melanoma | Substitution - coding silent |
c.41A>G; p.K14R; 19:56824615-56824615 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3297G>T; p.K1099N; 19:56815145-56815145 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2283G>A; p.K761K; 19:56816159-56816159 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1863T>C; p.Y621Y; 19:56816579-56816579 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.662G>A; p.R221Q; 19:56821658-56821658 |
skin | malignant_melanoma | Substitution - Missense |
c.2700C>T; p.F900F; 19:56815742-56815742 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.662G>A; p.R221Q; 19:56821658-56821658 |
skin | malignant_melanoma | Substitution - Missense |
c.902G>T; p.R301L; 19:56817540-56817540 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4474G>T; p.E1492*; 19:56813968-56813968 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3399C>A; p.C1133*; 19:56815043-56815043 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2247G>A; p.A749A; 19:56816195-56816195 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.66G>A; p.E22E; 19:56824590-56824590 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1961C>A; p.P654Q; 19:56816481-56816481 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3131A>T; p.E1044V; 19:56815311-56815311 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2247G>A; p.A749A; 19:56816195-56816195 |
lung | carcinoid-endocrine_tumour; typical | Substitution - coding silent |
c.3408C>G; p.D1136E; 19:56815034-56815034 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.804C>T; p.H268H; 19:56817804-56817804 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3676C>T; p.R1226*; 19:56814766-56814766 |
skin | malignant_melanoma | Substitution - Nonsense |
c.804C>T; p.H268H; 19:56817804-56817804 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3131A>T; p.E1044V; 19:56815311-56815311 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1702T>C; p.C568R; 19:56816740-56816740 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3368C>T; p.T1123I; 19:56815074-56815074 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.937G>T; p.V313L; 19:56817505-56817505 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.531A>G; p.R177R; 19:56822787-56822787 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2702G>A; p.R901H; 19:56815740-56815740 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4460T>C; p.I1487T; 19:56813982-56813982 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.2702G>A; p.R901H; 19:56815740-56815740 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1946A>G; p.H649R; 19:56816496-56816496 |
liver | carcinoma | Substitution - Missense |
c.4460T>C; p.I1487T; 19:56813982-56813982 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4460T>C; p.I1487T; 19:56813982-56813982 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1233C>T; p.P411P; 19:56817209-56817209 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.422A>C; p.D141A; 19:56823652-56823652 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.996G>A; p.R332R; 19:56817446-56817446 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2021G>T; p.R674M; 19:56816421-56816421 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.104T>C; p.I35T; 19:56824552-56824552 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.437G>A; p.R146Q; 19:56823637-56823637 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.827G>A; p.R276K; 19:56817781-56817781 |
skin | malignant_melanoma | Substitution - Missense |
c.2013C>T; p.S671S; 19:56816429-56816429 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.3980G>A; p.G1327E; 19:56814462-56814462 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.775C>A; p.Q259K; 19:56817833-56817833 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1780C>T; p.R594C; 19:56816662-56816662 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4429G>A; p.G1477R; 19:56814013-56814013 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.848C>T; p.P283L; 19:56817760-56817760 |
skin | malignant_melanoma | Substitution - Missense |
c.1066A>G; p.K356E; 19:56817376-56817376 |
skin | malignant_melanoma | Substitution - Missense |
c.1553C>T; p.A518V; 19:56816889-56816889 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.167A>G; p.E56G; 19:56824489-56824489 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4431A>G; p.G1477G; 19:56814011-56814011 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3286G>T; p.D1096Y; 19:56815156-56815156 |
breast | carcinoma | Substitution - Missense |
c.2091C>T; p.S697S; 19:56816351-56816351 |
skin | malignant_melanoma | Substitution - coding silent |
c.4431A>G; p.G1477G; 19:56814011-56814011 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3022C>T; p.R1008C; 19:56815420-56815420 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2800A>T; p.K934*; 19:56815642-56815642 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4355A>T; p.E1452V; 19:56814087-56814087 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2809G>C; p.A937P; 19:56815633-56815633 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.905G>T; p.R302L; 19:56817537-56817537 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2812A>G; p.K938E; 19:56815630-56815630 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4276G>T; p.D1426Y; 19:56814166-56814166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.479T>G; p.F160C; 19:56823595-56823595 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3302A>G; p.D1101G; 19:56815140-56815140 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3191A>C; p.Q1064P; 19:56815251-56815251 |
skin | malignant_melanoma | Substitution - Missense |
c.2753A>C; p.K918T; 19:56815689-56815689 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.331C>T; p.P111S; 19:56824325-56824325 |
liver | carcinoma | Substitution - Missense |
c.2510G>A; p.S837N; 19:56815932-56815932 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2260T>C; p.S754P; 19:56816182-56816182 |
prostate | carcinoma | Substitution - Missense |
c.3370G>A; p.D1124N; 19:56815072-56815072 |
skin | malignant_melanoma | Substitution - Missense |
c.642C>T; p.D214D; 19:56821678-56821678 |
skin | malignant_melanoma | Substitution - coding silent |
c.3283G>A; p.E1095K; 19:56815159-56815159 |
skin | malignant_melanoma | Substitution - Missense |
c.1320C>T; p.T440T; 19:56817122-56817122 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4008T>A; p.D1336E; 19:56814434-56814434 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4008T>A; p.D1336E; 19:56814434-56814434 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1242G>C; p.K414N; 19:56817200-56817200 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2917G>A; p.E973K; 19:56815525-56815525 |
oesophagus | carcinoma | Substitution - Missense |
c.2917G>A; p.E973K; 19:56815525-56815525 |
skin | malignant_melanoma | Substitution - Missense |
c.4105G>A; p.A1369T; 19:56814337-56814337 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4053G>T; p.K1351N; 19:56814389-56814389 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2651G>A; p.G884E; 19:56815791-56815791 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2974G>C; p.D992H; 19:56815468-56815468 |
oesophagus | carcinoma | Substitution - Missense |
c.1437C>T; p.L479L; 19:56817005-56817005 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3890T>G; p.L1297R; 19:56814552-56814552 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2104G>A; p.E702K; 19:56816338-56816338 |
breast | carcinoma | Substitution - Missense |
c.3961C>T; p.L1321F; 19:56814481-56814481 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.258C>T; p.I86I; 19:56824398-56824398 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2104G>A; p.E702K; 19:56816338-56816338 |
breast | carcinoma | Substitution - Missense |
c.2380G>T; p.A794S; 19:56816062-56816062 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2034T>G; p.T678T; 19:56816408-56816408 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3389G>A; p.S1130N; 19:56815053-56815053 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3490G>A; p.E1164K; 19:56814952-56814952 |
skin | malignant_melanoma | Substitution - Missense |
c.3490G>A; p.E1164K; 19:56814952-56814952 |
skin | malignant_melanoma | Substitution - Missense |
c.2034T>G; p.T678T; 19:56816408-56816408 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2646T>C; p.C882C; 19:56815796-56815796 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2760C>T; p.G920G; 19:56815682-56815682 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2760C>T; p.G920G; 19:56815682-56815682 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3026G>A; p.S1009N; 19:56815416-56815416 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3668C>T; p.S1223L; 19:56814774-56814774 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4614C>A; p.A1538A; 19:56813828-56813828 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4215A>C; p.E1405D; 19:56814227-56814227 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2857C>T; p.H953Y; 19:56815585-56815585 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4215A>C; p.E1405D; 19:56814227-56814227 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3168G>T; p.E1056D; 19:56815274-56815274 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3676_3677CG>TA; p.R1226>?; 19:56814765-56814766 |
large_intestine; rectum | carcinoma; adenocarcinoma | Complex |
c.2257A>T; p.S753C; 19:56816185-56816185 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1995C>A; p.T665T; 19:56816447-56816447 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1183C>T; p.H395Y; 19:56817259-56817259 |
skin | malignant_melanoma | Substitution - Missense |
c.2173A>G; p.S725G; 19:56816269-56816269 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463C>T; p.H155Y; 19:56823611-56823611 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.790G>A; p.D264N; 19:56817818-56817818 |
skin | malignant_melanoma | Substitution - Missense |
c.986G>A; p.G329E; 19:56817456-56817456 |
skin | malignant_melanoma | Substitution - Missense |
c.605A>C; p.K202T; 19:56821715-56821715 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4261G>A; p.E1421K; 19:56814181-56814181 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.4198G>T; p.E1400*; 19:56814244-56814244 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2663A>T; p.N888I; 19:56815779-56815779 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3458A>C; p.Y1153S; 19:56814984-56814984 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3198G>A; p.E1066E; 19:56815244-56815244 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3102G>A; p.K1034K; 19:56815340-56815340 |
skin | malignant_melanoma | Substitution - coding silent |
c.3760G>C; p.E1254Q; 19:56814682-56814682 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1379C>T; p.S460L; 19:56817063-56817063 |
skin | malignant_melanoma | Substitution - Missense |
c.1588G>A; p.G530S; 19:56816854-56816854 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.702C>T; p.L234L; 19:56818670-56818670 |
skin | malignant_melanoma | Substitution - coding silent |
c.116C>T; p.P39L; 19:56824540-56824540 |
skin | malignant_melanoma | Substitution - Missense |
c.2386C>A; p.P796T; 19:56816056-56816056 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.1343G>C; p.G448A; 19:56817099-56817099 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3760G>C; p.E1254Q; 19:56814682-56814682 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.4065_4066insGAA; p.E1360_D1361insE; 19:56814376-56814377 |
ovary | carcinoma; adenocarcinoma | Insertion - In frame |
c.116C>T; p.P39L; 19:56824540-56824540 |
skin | malignant_melanoma | Substitution - Missense |
c.109G>A; p.E37K; 19:56824547-56824547 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2466G>A; p.G822G; 19:56815976-56815976 |
skin | malignant_melanoma | Substitution - coding silent |
c.602C>T; p.A201V; 19:56821718-56821718 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2356G>A; p.E786K; 19:56816086-56816086 |
skin | malignant_melanoma | Substitution - Missense |
c.1511G>A; p.R504H; 19:56816931-56816931 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1208C>T; p.S403L; 19:56817234-56817234 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4111G>T; p.A1371S; 19:56814331-56814331 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1511G>A; p.R504H; 19:56816931-56816931 |
pancreas | carcinoma | Substitution - Missense |
c.2466G>A; p.G822G; 19:56815976-56815976 |
skin | malignant_melanoma | Substitution - coding silent |
c.1511G>A; p.R504H; 19:56816931-56816931 |
breast | carcinoma | Substitution - Missense |
c.4344G>A; p.G1448G; 19:56814098-56814098 |
skin | malignant_melanoma | Substitution - coding silent |
c.1516G>T; p.E506*; 19:56816926-56816926 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.236C>A; p.T79N; 19:56824420-56824420 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2441A>G; p.N814S; 19:56816001-56816001 |
skin | malignant_melanoma | Substitution - Missense |
c.2155G>T; p.E719*; 19:56816287-56816287 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4306G>A; p.A1436T; 19:56814136-56814136 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1586G>C; p.R529T; 19:56816856-56816856 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2894G>A; p.R965Q; 19:56815548-56815548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1936C>A; p.Q646K; 19:56816506-56816506 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.242C>A; p.T81N; 19:56824414-56824414 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.29C>T; p.T10I; 19:56824627-56824627 |
liver | carcinoma | Substitution - Missense |
c.2894G>A; p.R965Q; 19:56815548-56815548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2894G>A; p.R965Q; 19:56815548-56815548 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2134C>G; p.L712V; 19:56816308-56816308 |
liver | carcinoma | Substitution - Missense |
c.3769C>A; p.Q1257K; 19:56814673-56814673 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4727G>A; p.R1576H; 19:56813715-56813715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4727G>A; p.R1576H; 19:56813715-56813715 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3732G>T; p.M1244I; 19:56814710-56814710 |
thyroid | carcinoma | Substitution - Missense |
c.1255G>A; p.G419S; 19:56817187-56817187 |
skin | malignant_melanoma | Substitution - Missense |
c.4329C>A; p.A1443A; 19:56814113-56814113 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4082_4083insAGA; p.E1360_D1361insE; 19:56814359-56814360 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - In frame |
c.700C>T; p.L234F; 19:56818672-56818672 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4727G>A; p.R1576H; 19:56813715-56813715 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3319T>A; p.Y1107N; 19:56815123-56815123 |
kidney | other; neoplasm | Substitution - Missense |
c.2964G>T; p.Q988H; 19:56815478-56815478 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.424G>A; p.D142N; 19:56823650-56823650 |
skin | malignant_melanoma | Substitution - Missense |
c.1428A>G; p.R476R; 19:56817014-56817014 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2845A>G; p.T949A; 19:56815597-56815597 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3214G>A; p.E1072K; 19:56815228-56815228 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3218C>A; p.T1073N; 19:56815224-56815224 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.424G>A; p.D142N; 19:56823650-56823650 |
skin | malignant_melanoma | Substitution - Missense |
c.1023C>T; p.F341F; 19:56817419-56817419 |
skin | malignant_melanoma | Substitution - coding silent |
c.3158A>C; p.Y1053S; 19:56815284-56815284 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1878G>A; p.M626I; 19:56816564-56816564 |
breast | carcinoma | Substitution - Missense |
c.1971C>G; p.N657K; 19:56816471-56816471 |
liver | carcinoma | Substitution - Missense |
c.3436C>T; p.H1146Y; 19:56815006-56815006 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.3662C>G; p.A1221G; 19:56814780-56814780 |
liver | carcinoma | Substitution - Missense |
c.846C>T; p.Y282Y; 19:56817762-56817762 |
skin | malignant_melanoma | Substitution - coding silent |
c.102C>T; p.I34I; 19:56824554-56824554 |
skin | malignant_melanoma | Substitution - coding silent |
c.1282G>A; p.V428M; 19:56817160-56817160 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1177C>T; p.R393C; 19:56817265-56817265 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.102C>T; p.I34I; 19:56824554-56824554 |
skin | malignant_melanoma | Substitution - coding silent |
c.1919C>A; p.S640*; 19:56816523-56816523 |
ovary | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1071G>A; p.R357R; 19:56817371-56817371 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3418T>C; p.Y1140H; 19:56815024-56815024 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2424G>A; p.Q808Q; 19:56816018-56816018 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2424G>A; p.Q808Q; 19:56816018-56816018 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2931C>A; p.C977*; 19:56815511-56815511 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2972A>G; p.H991R; 19:56815470-56815470 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3442C>T; p.H1148Y; 19:56815000-56815000 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2582C>T; p.S861F; 19:56815860-56815860 |
skin | malignant_melanoma | Substitution - Missense |
c.3442C>T; p.H1148Y; 19:56815000-56815000 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3456G>A; p.E1152E; 19:56814986-56814986 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4199A>G; p.E1400G; 19:56814243-56814243 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.934G>A; p.G312R; 19:56817508-56817508 |
skin | malignant_melanoma | Substitution - Missense |
c.2691G>T; p.Q897H; 19:56815751-56815751 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.934G>A; p.G312R; 19:56817508-56817508 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3088C>T; p.R1030W; 19:56815354-56815354 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4593C>T; p.I1531I; 19:56813849-56813849 |
skin | malignant_melanoma | Substitution - coding silent |
c.4593C>T; p.I1531I; 19:56813849-56813849 |
skin | malignant_melanoma | Substitution - coding silent |
c.2464G>T; p.G822W; 19:56815978-56815978 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2028G>T; p.Q676H; 19:56816414-56816414 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4663G>A; p.G1555S; 19:56813779-56813779 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4290A>G; p.A1430A; 19:56814152-56814152 |
liver | carcinoma | Substitution - coding silent |
c.2583C>A; p.S861S; 19:56815859-56815859 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1781G>A; p.R594H; 19:56816661-56816661 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.396C>T; p.D132D; 19:56823678-56823678 |
pancreas | carcinoma | Substitution - coding silent |
c.2185A>G; p.T729A; 19:56816257-56816257 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4726C>T; p.R1576C; 19:56813716-56813716 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4726C>T; p.R1576C; 19:56813716-56813716 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4726C>T; p.R1576C; 19:56813716-56813716 |
liver | carcinoma | Substitution - Missense |
c.4098T>A; p.A1366A; 19:56814344-56814344 |
skin | malignant_melanoma | Substitution - coding silent |
c.4370G>A; p.G1457D; 19:56814072-56814072 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2643T>C; p.P881P; 19:56815799-56815799 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.223T>G; p.L75V; 19:56824433-56824433 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3534T>A; p.L1178L; 19:56814908-56814908 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3262G>T; p.V1088F; 19:56815180-56815180 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3942C>T; p.S1314S; 19:56814500-56814500 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2896G>T; p.G966W; 19:56815546-56815546 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1813G>A; p.G605R; 19:56816629-56816629 |
skin | malignant_melanoma | Substitution - Missense |
c.4380_4381CC>TT; p.P1461S; 19:56814061-56814062 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.992C>T; p.A331V; 19:56817450-56817450 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1673G>A; p.G558D; 19:56816769-56816769 |
prostate | carcinoma | Substitution - Missense |
c.1930G>T; p.E644*; 19:56816512-56816512 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.208C>A; p.L70I; 19:56824448-56824448 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3343G>T; p.G1115C; 19:56815099-56815099 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4083_4084insAGA; p.D1361_E1362insR; 19:56814358-56814359 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.2228G>T; p.S743I; 19:56816214-56816214 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1266G>C; p.M422I; 19:56817176-56817176 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4054G>A; p.E1352K; 19:56814388-56814388 |
skin | malignant_melanoma | Substitution - Missense |
c.2228G>T; p.S743I; 19:56816214-56816214 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1244C>G; p.P415R; 19:56817198-56817198 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3531C>T; p.F1177F; 19:56814911-56814911 |
skin | malignant_melanoma | Substitution - coding silent |
c.2484G>A; p.R828R; 19:56815958-56815958 |
skin | malignant_melanoma | Substitution - coding silent |
c.1211T>A; p.I404N; 19:56817231-56817231 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4481A>C; p.E1494A; 19:56813961-56813961 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1697G>C; p.R566T; 19:56816745-56816745 |
liver | carcinoma | Substitution - Missense |
c.1036G>T; p.D346Y; 19:56817406-56817406 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.903G>T; p.R301R; 19:56817539-56817539 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3531C>T; p.F1177F; 19:56814911-56814911 |
skin | malignant_melanoma | Substitution - coding silent |
c.4282G>T; p.E1428*; 19:56814160-56814160 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2770_2771delGT; p.V924fs*7; 19:56815671-56815672 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Deletion - Frameshift |
c.139C>T; p.Q47*; 19:56824517-56824517 |
skin | malignant_melanoma | Substitution - Nonsense |
c.684C>A; p.Y228*; 19:56818688-56818688 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.984G>A; p.S328S; 19:56817458-56817458 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1815G>A; p.G605G; 19:56816627-56816627 |
skin | malignant_melanoma | Substitution - coding silent |
c.3658C>A; p.L1220I; 19:56814784-56814784 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.306C>A; p.L102L; 19:56824350-56824350 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.4213G>A; p.E1405K; 19:56814229-56814229 |
skin | malignant_melanoma | Substitution - Missense |
c.781G>A; p.A261T; 19:56817827-56817827 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4218G>A; p.V1406V; 19:56814224-56814224 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3472A>G; p.T1158A; 19:56814970-56814970 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.892T>A; p.S298T; 19:56817550-56817550 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1215C>T; p.H405H; 19:56817227-56817227 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1296C>A; p.S432R; 19:56817146-56817146 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1504G>T; p.G502W; 19:56816938-56816938 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2162C>T; p.S721F; 19:56816280-56816280 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.4624T>C; p.C1542R; 19:56813818-56813818 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3067C>A; p.Q1023K; 19:56815375-56815375 |
ovary | other; neoplasm | Substitution - Missense |
c.2833A>G; p.R945G; 19:56815609-56815609 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1209G>A; p.S403S; 19:56817233-56817233 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2762A>C; p.E921A; 19:56815680-56815680 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1209G>A; p.S403S; 19:56817233-56817233 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3067C>A; p.Q1023K; 19:56815375-56815375 |
ovary | other; neoplasm | Substitution - Missense |
c.1209G>A; p.S403S; 19:56817233-56817233 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1198G>A; p.G400R; 19:56817244-56817244 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2893C>G; p.R965G; 19:56815549-56815549 |
breast | carcinoma | Substitution - Missense |
c.1631T>C; p.F544S; 19:56816811-56816811 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2533A>G; p.R845G; 19:56815909-56815909 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.773-3G>A; p.?; 19:56817838-56817838 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.2808T>C; p.R936R; 19:56815634-56815634 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2351C>A; p.S784Y; 19:56816091-56816091 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1071G>T; p.R357S; 19:56817371-56817371 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3194G>A; p.G1065D; 19:56815248-56815248 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.332C>T; p.P111L; 19:56824324-56824324 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2073G>A; p.R691R; 19:56816369-56816369 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1594C>T; p.L532F; 19:56816848-56816848 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3631A>T; p.N1211Y; 19:56814811-56814811 |
ovary | other; neoplasm | Substitution - Missense |
c.277C>T; p.Q93*; 19:56824379-56824379 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.332C>T; p.P111L; 19:56824324-56824324 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1380G>A; p.S460S; 19:56817062-56817062 |
prostate | carcinoma | Substitution - coding silent |
c.3298G>T; p.D1100Y; 19:56815144-56815144 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1300C>G; p.L434V; 19:56817142-56817142 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.4643G>A; p.R1548H; 19:56813799-56813799 |
pancreas | carcinoma | Substitution - Missense |
c.2119C>T; p.H707Y; 19:56816323-56816323 |
skin | malignant_melanoma | Substitution - Missense |
c.2065G>C; p.D689H; 19:56816377-56816377 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2119C>T; p.H707Y; 19:56816323-56816323 |
skin | malignant_melanoma | Substitution - Missense |
c.4643G>A; p.R1548H; 19:56813799-56813799 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2119C>T; p.H707Y; 19:56816323-56816323 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4249G>A; p.E1417K; 19:56814193-56814193 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2119C>T; p.H707Y; 19:56816323-56816323 |
skin | malignant_melanoma | Substitution - Missense |
c.2119C>T; p.H707Y; 19:56816323-56816323 |
skin | malignant_melanoma | Substitution - Missense |
c.4643G>A; p.R1548H; 19:56813799-56813799 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.889A>T; p.K297*; 19:56817553-56817553 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.680C>T; p.S227L; 19:56818692-56818692 |
skin | malignant_melanoma | Substitution - Missense |
c.4020C>T; p.S1340S; 19:56814422-56814422 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2119C>T; p.H707Y; 19:56816323-56816323 |
skin | malignant_melanoma | Substitution - Missense |
c.3473C>G; p.T1158S; 19:56814969-56814969 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2119C>T; p.H707Y; 19:56816323-56816323 |
skin | malignant_melanoma | Substitution - Missense |
c.628G>T; p.E210*; 19:56821692-56821692 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2023C>T; p.R675C; 19:56816419-56816419 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1156A>G; p.R386G; 19:56817286-56817286 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4642C>T; p.R1548C; 19:56813800-56813800 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.159C>A; p.I53I; 19:56824497-56824497 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2770G>C; p.V924L; 19:56815672-56815672 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1793G>A; p.R598H; 19:56816649-56816649 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2564C>A; p.S855Y; 19:56815878-56815878 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4489G>A; p.E1497K; 19:56813953-56813953 |
skin | malignant_melanoma | Substitution - Missense |
c.1793G>A; p.R598H; 19:56816649-56816649 |
breast | carcinoma | Substitution - Missense |
c.107G>A; p.G36E; 19:56824549-56824549 |
skin | malignant_melanoma | Substitution - Missense |
c.1263G>A; p.E421E; 19:56817179-56817179 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4329C>G; p.A1443A; 19:56814113-56814113 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2371C>A; p.H791N; 19:56816071-56816071 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3823A>G; p.S1275G; 19:56814619-56814619 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4555G>A; p.A1519T; 19:56813887-56813887 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4555G>A; p.A1519T; 19:56813887-56813887 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4057C>T; p.L1353F; 19:56814385-56814385 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3330G>T; p.E1110D; 19:56815112-56815112 |
skin | malignant_melanoma | Substitution - Missense |
c.3330G>T; p.E1110D; 19:56815112-56815112 |
skin | malignant_melanoma | Substitution - Missense |
c.3330G>T; p.E1110D; 19:56815112-56815112 |
skin | malignant_melanoma | Substitution - Missense |
c.500G>T; p.R167L; 19:56822818-56822818 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.872C>A; p.T291N; 19:56817570-56817570 |
skin | malignant_melanoma | Substitution - Missense |
c.2615G>C; p.R872P; 19:56815827-56815827 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2438T>C; p.I813T; 19:56816004-56816004 |
breast | carcinoma | Substitution - Missense |
c.3337G>A; p.G1113S; 19:56815105-56815105 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2735G>A; p.G912E; 19:56815707-56815707 |
skin | malignant_melanoma | Substitution - Missense |
c.51C>T; p.A17A; 19:56824605-56824605 |
skin | malignant_melanoma | Substitution - coding silent |
c.2052C>T; p.L684L; 19:56816390-56816390 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.576G>A; p.P192P; 19:56821744-56821744 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.1177C>A; p.R393S; 19:56817265-56817265 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2937T>C; p.A979A; 19:56815505-56815505 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1178G>T; p.R393L; 19:56817264-56817264 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1178G>T; p.R393L; 19:56817264-56817264 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2456G>A; p.R819H; 19:56815986-56815986 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2456G>A; p.R819H; 19:56815986-56815986 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1542C>T; p.F514F; 19:56816900-56816900 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1708G>A; p.E570K; 19:56816734-56816734 |
skin | malignant_melanoma | Substitution - Missense |
c.2841T>C; p.N947N; 19:56815601-56815601 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3873C>T; p.F1291F; 19:56814569-56814569 |
skin | malignant_melanoma | Substitution - coding silent |
c.1708G>A; p.E570K; 19:56816734-56816734 |
skin | malignant_melanoma | Substitution - Missense |
c.1706A>C; p.K569T; 19:56816736-56816736 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1706A>C; p.K569T; 19:56816736-56816736 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2456G>A; p.R819H; 19:56815986-56815986 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.4387G>A; p.E1463K; 19:56814055-56814055 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3112C>A; p.Q1038K; 19:56815330-56815330 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.216C>T; p.L72L; 19:56824440-56824440 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2543A>G; p.N848S; 19:56815899-56815899 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3512C>T; p.S1171F; 19:56814930-56814930 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.970C>T; p.R324C; 19:56817472-56817472 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1354T>C; p.Y452H; 19:56817088-56817088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.319C>A; p.R107R; 19:56824337-56824337 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.216C>T; p.L72L; 19:56824440-56824440 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.150G>A; p.R50R; 19:56824506-56824506 |
skin | malignant_melanoma | Substitution - coding silent |
c.870A>G; p.K290K; 19:56817572-56817572 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.3502T>G; p.C1168G; 19:56814940-56814940 |
breast | carcinoma | Substitution - Missense |
c.1413G>T; p.Q471H; 19:56817029-56817029 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1531G>T; p.G511*; 19:56816911-56816911 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4450G>A; p.G1484S; 19:56813992-56813992 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1531G>T; p.G511*; 19:56816911-56816911 |
pancreas | carcinoma | Substitution - Nonsense |
c.2615G>A; p.R872Q; 19:56815827-56815827 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2307T>C; p.Y769Y; 19:56816135-56816135 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1531G>T; p.G511*; 19:56816911-56816911 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4744C>G; p.H1582D; 19:56813698-56813698 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2238C>T; p.D746D; 19:56816204-56816204 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.4206C>T; p.A1402A; 19:56814236-56814236 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4055A>G; p.E1352G; 19:56814387-56814387 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4206C>T; p.A1402A; 19:56814236-56814236 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4095A>T; p.A1365A; 19:56814347-56814347 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.495G>A; p.W165*; 19:56822823-56822823 |
skin | malignant_melanoma | Substitution - Nonsense |
c.495G>A; p.W165*; 19:56822823-56822823 |
skin | malignant_melanoma | Substitution - Nonsense |
c.4043C>T; p.T1348I; 19:56814399-56814399 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2574G>C; p.K858N; 19:56815868-56815868 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1034C>T; p.S345L; 19:56817408-56817408 |
pancreas | carcinoma | Substitution - Missense |
c.1366G>T; p.E456*; 19:56817076-56817076 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.755G>A; p.R252K; 19:56818617-56818617 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2306A>G; p.Y769C; 19:56816136-56816136 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1923C>T; p.S641S; 19:56816519-56816519 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3156C>A; p.I1052I; 19:56815286-56815286 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3515T>A; p.F1172Y; 19:56814927-56814927 |
prostate | carcinoma | Substitution - Missense |
c.3326G>T; p.C1109F; 19:56815116-56815116 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2651G>T; p.G884V; 19:56815791-56815791 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4182T>C; p.A1394A; 19:56814260-56814260 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3298G>A; p.D1100N; 19:56815144-56815144 |
skin | malignant_melanoma | Substitution - Missense |
c.3122C>A; p.A1041D; 19:56815320-56815320 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4409G>C; p.G1470A; 19:56814033-56814033 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.670G>A; p.D224N; 19:56818702-56818702 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3234C>T; p.T1078T; 19:56815208-56815208 |
skin | malignant_melanoma | Substitution - coding silent |
c.670G>A; p.D224N; 19:56818702-56818702 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2024G>A; p.R675H; 19:56816418-56816418 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2725C>T; p.P909S; 19:56815717-56815717 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4645G>T; p.A1549S; 19:56813797-56813797 |
pancreas | carcinoma | Substitution - Missense |
c.2024G>A; p.R675H; 19:56816418-56816418 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2024G>A; p.R675H; 19:56816418-56816418 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2024G>A; p.R675H; 19:56816418-56816418 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2024G>A; p.R675H; 19:56816418-56816418 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2024G>A; p.R675H; 19:56816418-56816418 |
liver | carcinoma | Substitution - Missense |
c.1091G>A; p.R364Q; 19:56817351-56817351 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.931C>A; p.H311N; 19:56817511-56817511 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.905G>A; p.R302Q; 19:56817537-56817537 |
breast | carcinoma | Substitution - Missense |
c.4738G>A; p.A1580T; 19:56813704-56813704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091G>A; p.R364Q; 19:56817351-56817351 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3874G>A; p.V1292I; 19:56814568-56814568 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3579G>A; p.M1193I; 19:56814863-56814863 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.160T>A; p.Y54N; 19:56824496-56824496 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4456G>A; p.G1486R; 19:56813986-56813986 |
skin | malignant_melanoma | Substitution - Missense |
c.3627G>T; p.R1209R; 19:56814815-56814815 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1312T>C; p.S438P; 19:56817130-56817130 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.142A>G; p.R48G; 19:56824514-56824514 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3196G>T; p.E1066*; 19:56815246-56815246 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.366G>T; p.E122D; 19:56824290-56824290 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.366G>T; p.E122D; 19:56824290-56824290 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1828C>A; p.P610T; 19:56816614-56816614 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.394+2T>C; p.?; 19:56824260-56824260 |
skin; trunk | malignant_melanoma; nodular | Unknown |
c.153C>A; p.N51K; 19:56824503-56824503 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2884T>G; p.F962V; 19:56815558-56815558 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3938C>A; p.S1313Y; 19:56814504-56814504 |
breast | carcinoma | Substitution - Missense |
c.3823A>C; p.S1275R; 19:56814619-56814619 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1686C>A; p.F562L; 19:56816756-56816756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3082C>A; p.Q1028K; 19:56815360-56815360 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1532G>A; p.G511E; 19:56816910-56816910 |
pancreas | carcinoma | Substitution - Missense |
c.3745G>A; p.E1249K; 19:56814697-56814697 |
skin | malignant_melanoma | Substitution - Missense |
c.541T>C; p.S181P; 19:56822777-56822777 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4571T>A; p.L1524Q; 19:56813871-56813871 |
liver | carcinoma | Substitution - Missense |
c.3823A>C; p.S1275R; 19:56814619-56814619 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.255C>T; p.I85I; 19:56824401-56824401 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4081G>A; p.D1361N; 19:56814361-56814361 |
skin | malignant_melanoma | Substitution - Missense |
c.341G>C; p.C114S; 19:56824315-56824315 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.496G>A; p.D166N; 19:56822822-56822822 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.677A>G; p.E226G; 19:56818695-56818695 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3158A>T; p.Y1053F; 19:56815284-56815284 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2761G>A; p.E921K; 19:56815681-56815681 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2761G>A; p.E921K; 19:56815681-56815681 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3548G>T; p.R1183I; 19:56814894-56814894 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2761G>A; p.E921K; 19:56815681-56815681 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4097C>G; p.A1366G; 19:56814345-56814345 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.154C>A; p.L52I; 19:56824502-56824502 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2229T>G; p.S743R; 19:56816213-56816213 |
skin | malignant_melanoma | Substitution - Missense |
c.391G>T; p.E131*; 19:56824265-56824265 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3653C>A; p.P1218H; 19:56814789-56814789 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2126G>A; p.R709Q; 19:56816316-56816316 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.983C>A; p.S328*; 19:56817459-56817459 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1698G>A; p.R566R; 19:56816744-56816744 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.111A>C; p.E37D; 19:56824545-56824545 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3066G>T; p.E1022D; 19:56815376-56815376 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3393G>A; p.R1131R; 19:56815049-56815049 |
skin | malignant_melanoma | Substitution - coding silent |
c.2005G>A; p.G669S; 19:56816437-56816437 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4407G>A; p.E1469E; 19:56814035-56814035 |
skin | malignant_melanoma | Substitution - coding silent |
c.983C>A; p.S328*; 19:56817459-56817459 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.231G>C; p.P77P; 19:56824425-56824425 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.789C>T; p.D263D; 19:56817819-56817819 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.789C>T; p.D263D; 19:56817819-56817819 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.494G>T; p.W165L; 19:56822824-56822824 |
breast | carcinoma | Substitution - Missense |
c.494G>T; p.W165L; 19:56822824-56822824 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.789C>T; p.D263D; 19:56817819-56817819 |
pancreas | carcinoma | Substitution - coding silent |
c.789C>T; p.D263D; 19:56817819-56817819 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.789C>T; p.D263D; 19:56817819-56817819 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - coding silent |
c.3909T>C; p.V1303V; 19:56814533-56814533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2325G>T; p.E775D; 19:56816117-56816117 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.789C>T; p.D263D; 19:56817819-56817819 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.3834A>C; p.E1278D; 19:56814608-56814608 |
skin | malignant_melanoma | Substitution - Missense |
c.202C>T; p.R68*; 19:56824454-56824454 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.202C>T; p.R68*; 19:56824454-56824454 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4066G>T; p.E1356*; 19:56814376-56814376 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4462G>A; p.E1488K; 19:56813980-56813980 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.859C>T; p.R287*; 19:56817749-56817749 |
pancreas | carcinoma | Substitution - Nonsense |
c.4227T>C; p.A1409A; 19:56814215-56814215 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.661C>T; p.R221*; 19:56821659-56821659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1507A>G; p.K503E; 19:56816935-56816935 |
skin | malignant_melanoma | Substitution - Missense |
c.426C>T; p.D142D; 19:56823648-56823648 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2265C>T; p.N755N; 19:56816177-56816177 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4525G>A; p.E1509K; 19:56813917-56813917 |
breast | carcinoma | Substitution - Missense |
c.3892_3893insT; p.A1298fs*8; 19:56814549-56814550 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.2430C>T; p.F810F; 19:56816012-56816012 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1660C>T; p.Q554*; 19:56816782-56816782 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.583C>T; p.L195F; 19:56821737-56821737 |
skin | malignant_melanoma | Substitution - Missense |
c.2430C>T; p.F810F; 19:56816012-56816012 |
breast | carcinoma | Substitution - coding silent |
c.3890T>A; p.L1297H; 19:56814552-56814552 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1531G>A; p.G511R; 19:56816911-56816911 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.2046G>A; p.E682E; 19:56816396-56816396 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1744C>A; p.Q582K; 19:56816698-56816698 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2650G>T; p.G884W; 19:56815792-56815792 |
skin | malignant_melanoma | Substitution - Missense |
c.2042A>G; p.K681R; 19:56816400-56816400 |
skin | malignant_melanoma | Substitution - Missense |
c.53C>A; p.P18Q; 19:56824603-56824603 |
breast | carcinoma | Substitution - Missense |
c.577C>T; p.R193W; 19:56821743-56821743 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3837G>T; p.E1279D; 19:56814605-56814605 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2041A>G; p.K681E; 19:56816401-56816401 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4101A>T; p.A1367A; 19:56814341-56814341 |
skin | malignant_melanoma | Substitution - coding silent |
c.2653G>T; p.G885C; 19:56815789-56815789 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.957C>G; p.I319M; 19:56817485-56817485 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4181C>T; p.A1394V; 19:56814261-56814261 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3914A>C; p.K1305T; 19:56814528-56814528 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1435C>A; p.L479I; 19:56817007-56817007 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4181C>T; p.A1394V; 19:56814261-56814261 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.228G>T; p.Q76H; 19:56824428-56824428 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3680G>T; p.C1227F; 19:56814762-56814762 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4181C>T; p.A1394V; 19:56814261-56814261 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3318C>T; p.I1106I; 19:56815124-56815124 |
skin | malignant_melanoma | Substitution - coding silent |
c.2012C>T; p.S671F; 19:56816430-56816430 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1178G>A; p.R393H; 19:56817264-56817264 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3803C>T; p.A1268V; 19:56814639-56814639 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3295A>G; p.K1099E; 19:56815147-56815147 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4157G>A; p.R1386K; 19:56814285-56814285 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2681C>T; p.S894F; 19:56815761-56815761 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1341T>A; p.F447L; 19:56817101-56817101 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2279A>G; p.Q760R; 19:56816163-56816163 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2239G>A; p.E747K; 19:56816203-56816203 |
pancreas | carcinoma | Substitution - Missense |
c.2239G>A; p.E747K; 19:56816203-56816203 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2239G>A; p.E747K; 19:56816203-56816203 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2359G>A; p.A787T; 19:56816083-56816083 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.336G>T; p.E112D; 19:56824320-56824320 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009C>T; p.R337W; 19:56817433-56817433 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.4354G>A; p.E1452K; 19:56814088-56814088 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1009C>T; p.R337W; 19:56817433-56817433 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1151G>C; p.R384T; 19:56817291-56817291 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4690T>G; p.F1564V; 19:56813752-56813752 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4604C>T; p.P1535L; 19:56813838-56813838 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.21_22GT>AG; p.L7>?; 19:56824634-56824635 |
large_intestine; rectum | carcinoma; adenocarcinoma | Complex |
c.4226C>A; p.A1409D; 19:56814216-56814216 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3865G>T; p.E1289*; 19:56814577-56814577 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1441G>A; p.E481K; 19:56817001-56817001 |
skin | malignant_melanoma | Substitution - Missense |
c.639G>A; p.R213R; 19:56821681-56821681 |
skin; leg | malignant_melanoma; nodular | Substitution - coding silent |
c.3538G>A; p.E1180K; 19:56814904-56814904 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2431G>C; p.D811H; 19:56816011-56816011 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3235C>T; p.H1079Y; 19:56815207-56815207 |
skin | malignant_melanoma | Substitution - Missense |
c.659C>T; p.S220F; 19:56821661-56821661 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2865G>T; p.L955L; 19:56815577-56815577 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.552G>A; p.R184R; 19:56822766-56822766 |
prostate | carcinoma | Substitution - coding silent |
c.572C>A; p.P191H; 19:56821748-56821748 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2123C>G; p.S708C; 19:56816319-56816319 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4590G>A; p.M1530I; 19:56813852-56813852 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.4379A>G; p.D1460G; 19:56814063-56814063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2188G>A; p.E730K; 19:56816254-56816254 |
skin | malignant_melanoma | Substitution - Missense |
c.4447G>A; p.D1483N; 19:56813995-56813995 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4379A>G; p.D1460G; 19:56814063-56814063 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.592C>T; p.P198S; 19:56821728-56821728 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4379A>G; p.D1460G; 19:56814063-56814063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4379A>G; p.D1460G; 19:56814063-56814063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2945C>T; p.S982F; 19:56815497-56815497 |
breast | carcinoma | Substitution - Missense |
c.4379A>G; p.D1460G; 19:56814063-56814063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3901G>A; p.V1301I; 19:56814541-56814541 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1975G>A; p.G659S; 19:56816467-56816467 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1519T>C; p.C507R; 19:56816923-56816923 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.2281A>G; p.K761E; 19:56816161-56816161 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2455C>T; p.R819C; 19:56815987-56815987 |
skin | malignant_melanoma | Substitution - Missense |
c.2455C>T; p.R819C; 19:56815987-56815987 |
NS | malignant_melanoma | Substitution - Missense |
c.2608G>A; p.D870N; 19:56815834-56815834 |
skin | malignant_melanoma | Substitution - Missense |
c.2455C>T; p.R819C; 19:56815987-56815987 |
skin | malignant_melanoma | Substitution - Missense |
c.1984T>C; p.C662R; 19:56816458-56816458 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2349C>A; p.A783A; 19:56816093-56816093 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.574C>T; p.P192S; 19:56821746-56821746 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1889A>G; p.K630R; 19:56816553-56816553 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4378G>A; p.D1460N; 19:56814064-56814064 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4038C>A; p.V1346V; 19:56814404-56814404 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1349T>A; p.M450K; 19:56817093-56817093 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.972C>T; p.R324R; 19:56817470-56817470 |
skin | malignant_melanoma | Substitution - coding silent |
c.1689C>T; p.Y563Y; 19:56816753-56816753 |
prostate | carcinoma | Substitution - coding silent |
c.1889A>G; p.K630R; 19:56816553-56816553 |
stomach | adenocarcinoma | Substitution - Missense |
c.4683G>A; p.E1561E; 19:56813759-56813759 |
skin | malignant_melanoma | Substitution - coding silent |
c.3585G>A; p.G1195G; 19:56814857-56814857 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1707G>T; p.K569N; 19:56816735-56816735 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1805G>A; p.R602H; 19:56816637-56816637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1716C>G; p.F572L; 19:56816726-56816726 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1237A>G; p.K413E; 19:56817205-56817205 |
pancreas | carcinoma | Substitution - Missense |
c.902G>A; p.R301Q; 19:56817540-56817540 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1497G>T; p.Q499H; 19:56816945-56816945 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1237A>G; p.K413E; 19:56817205-56817205 |
pancreas | carcinoma | Substitution - Missense |
c.1237A>G; p.K413E; 19:56817205-56817205 |
pancreas | carcinoma | Substitution - Missense |
c.1237A>G; p.K413E; 19:56817205-56817205 |
pancreas | carcinoma | Substitution - Missense |
c.4572G>A; p.L1524L; 19:56813870-56813870 |
skin | malignant_melanoma | Substitution - coding silent |
c.1237A>G; p.K413E; 19:56817205-56817205 |
pancreas | carcinoma | Substitution - Missense |
c.904C>T; p.R302W; 19:56817538-56817538 |
pancreas | carcinoma | Substitution - Missense |
c.904C>T; p.R302W; 19:56817538-56817538 |
pancreas | carcinoma | Substitution - Missense |
c.771C>T; p.L257L; 19:56818601-56818601 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1237A>G; p.K413E; 19:56817205-56817205 |
pancreas | carcinoma | Substitution - Missense |
c.1237A>G; p.K413E; 19:56817205-56817205 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.904C>T; p.R302W; 19:56817538-56817538 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.3821G>T; p.R1274I; 19:56814621-56814621 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1461C>G; p.I487M; 19:56816981-56816981 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1351C>T; p.P451S; 19:56817091-56817091 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2472C>A; p.T824T; 19:56815970-56815970 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.314G>T; p.W105L; 19:56824342-56824342 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1854G>A; p.Q618Q; 19:56816588-56816588 |
skin | malignant_melanoma | Substitution - coding silent |
c.3058G>A; p.A1020T; 19:56815384-56815384 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.242C>T; p.T81I; 19:56824414-56824414 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.242C>T; p.T81I; 19:56824414-56824414 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4511A>T; p.Y1504F; 19:56813931-56813931 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4286C>T; p.A1429V; 19:56814156-56814156 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4631G>A; p.G1544D; 19:56813811-56813811 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2234A>T; p.E745V; 19:56816208-56816208 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.487C>T; p.R163W; 19:56822831-56822831 |
skin | malignant_melanoma | Substitution - Missense |
c.169T>A; p.F57I; 19:56824487-56824487 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.487C>T; p.R163W; 19:56822831-56822831 |
skin | malignant_melanoma | Substitution - Missense |
c.2966A>C; p.K989T; 19:56815476-56815476 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2595C>A; p.I865I; 19:56815847-56815847 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1172A>G; p.K391R; 19:56817270-56817270 |
liver | carcinoma | Substitution - Missense |
c.2296G>A; p.E766K; 19:56816146-56816146 |
skin | malignant_melanoma | Substitution - Missense |
c.1325C>T; p.S442L; 19:56817117-56817117 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2536A>G; p.S846G; 19:56815906-56815906 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.2536A>G; p.S846G; 19:56815906-56815906 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2030A>C; p.K677T; 19:56816412-56816412 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1547A>G; p.K516R; 19:56816895-56816895 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.237C>A; p.T79T; 19:56824419-56824419 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.19T>G; p.L7V; 19:56824637-56824637 |
skin | malignant_melanoma | Substitution - Missense |
c.995G>T; p.R332M; 19:56817447-56817447 |
pancreas | carcinoma | Substitution - Missense |
c.2304C>A; p.V768V; 19:56816138-56816138 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.435C>T; p.T145T; 19:56823639-56823639 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2925G>A; p.G975G; 19:56815517-56815517 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.995G>T; p.R332M; 19:56817447-56817447 |
pancreas | carcinoma | Substitution - Missense |
c.19T>G; p.L7V; 19:56824637-56824637 |
skin | malignant_melanoma | Substitution - Missense |
c.198A>G; p.K66K; 19:56824458-56824458 |
liver | carcinoma | Substitution - coding silent |
c.4274C>G; p.P1425R; 19:56814168-56814168 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3708T>A; p.H1236Q; 19:56814734-56814734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2606A>T; p.N869I; 19:56815836-56815836 |
skin | malignant_melanoma | Substitution - Missense |
c.1216G>A; p.D406N; 19:56817226-56817226 |
skin | malignant_melanoma | Substitution - Missense |
c.985G>A; p.G329R; 19:56817457-56817457 |
skin; nipple | malignant_melanoma | Substitution - Missense |
c.4605T>A; p.P1535P; 19:56813837-56813837 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.807G>A; p.M269I; 19:56817801-56817801 |
skin | malignant_melanoma | Substitution - Missense |
c.1216G>A; p.D406N; 19:56817226-56817226 |
thyroid | carcinoma | Substitution - Missense |
c.1283_1291delTGAGCAGCC; p.L434_S436delLSS; 19:56817151-56817159 |
breast | carcinoma | Deletion - In frame |
c.807G>A; p.M269I; 19:56817801-56817801 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.2947G>A; p.D983N; 19:56815495-56815495 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1782T>C; p.R594R; 19:56816660-56816660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3546G>T; p.Q1182H; 19:56814896-56814896 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3903A>C; p.V1301V; 19:56814539-56814539 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.172G>T; p.V58F; 19:56824484-56824484 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3318C>A; p.I1106I; 19:56815124-56815124 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4243G>A; p.A1415T; 19:56814199-56814199 |
skin | malignant_melanoma | Substitution - Missense |
c.1782T>C; p.R594R; 19:56816660-56816660 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1677A>T; p.K559N; 19:56816765-56816765 |
skin | malignant_melanoma | Substitution - Missense |
c.50_51CC>TT; p.A17V; 19:56824605-56824606 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3916A>C; p.N1306H; 19:56814526-56814526 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3193G>A; p.G1065S; 19:56815249-56815249 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1677A>T; p.K559N; 19:56816765-56816765 |
skin | malignant_melanoma | Substitution - Missense |
c.3916A>C; p.N1306H; 19:56814526-56814526 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.47G>T; p.W16L; 19:56824609-56824609 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1814G>T; p.G605V; 19:56816628-56816628 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1657C>T; p.L553F; 19:56816785-56816785 |
breast | carcinoma | Substitution - Missense |
c.1832G>T; p.S611I; 19:56816610-56816610 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2385G>T; p.G795G; 19:56816057-56816057 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1104G>T; p.G368G; 19:56817338-56817338 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1532G>T; p.G511V; 19:56816910-56816910 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3634C>T; p.R1212C; 19:56814808-56814808 |
skin | malignant_melanoma | Substitution - Missense |
c.93G>A; p.P31P; 19:56824563-56824563 |
oesophagus | carcinoma | Substitution - coding silent |
c.4638C>G; p.I1546M; 19:56813804-56813804 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>A; p.R324H; 19:56817471-56817471 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1955G>A; p.G652E; 19:56816487-56816487 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2272G>A; p.E758K; 19:56816170-56816170 |
skin | malignant_melanoma | Substitution - Missense |
c.2480G>A; p.G827E; 19:56815962-56815962 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2480G>A; p.G827E; 19:56815962-56815962 |
liver | carcinoma | Substitution - Missense |
c.2480G>A; p.G827E; 19:56815962-56815962 |
liver | carcinoma | Substitution - Missense |
c.1955G>A; p.G652E; 19:56816487-56816487 |
skin | malignant_melanoma | Substitution - Missense |
c.2272G>A; p.E758K; 19:56816170-56816170 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.946G>T; p.E316*; 19:56817496-56817496 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1308C>T; p.S436S; 19:56817134-56817134 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3615C>T; p.P1205P; 19:56814827-56814827 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1498G>T; p.V500F; 19:56816944-56816944 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3918T>C; p.N1306N; 19:56814524-56814524 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1570C>T; p.R524W; 19:56816872-56816872 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3472A>T; p.T1158S; 19:56814970-56814970 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1716C>T; p.F572F; 19:56816726-56816726 |
skin | malignant_melanoma | Substitution - coding silent |
c.3180C>T; p.G1060G; 19:56815262-56815262 |
pancreas | carcinoma | Substitution - coding silent |
c.3796G>T; p.G1266C; 19:56814646-56814646 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.319C>T; p.R107*; 19:56824337-56824337 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2459C>A; p.A820D; 19:56815983-56815983 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1804C>T; p.R602C; 19:56816638-56816638 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.767_768CC>TA; p.S256L; 19:56818604-56818605 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.319C>T; p.R107*; 19:56824337-56824337 |
breast | carcinoma | Substitution - Nonsense |
c.3784G>T; p.A1262S; 19:56814658-56814658 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.578G>A; p.R193Q; 19:56821742-56821742 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2665C>T; p.R889C; 19:56815777-56815777 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1708G>C; p.E570Q; 19:56816734-56816734 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3751G>A; p.D1251N; 19:56814691-56814691 |
skin | malignant_melanoma | Substitution - Missense |
c.578G>A; p.R193Q; 19:56821742-56821742 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2665C>T; p.R889C; 19:56815777-56815777 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578G>A; p.R193Q; 19:56821742-56821742 |
skin | malignant_melanoma | Substitution - Missense |
c.4060C>T; p.H1354Y; 19:56814382-56814382 |
skin | malignant_melanoma | Substitution - Missense |
c.578G>A; p.R193Q; 19:56821742-56821742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4062T>A; p.H1354Q; 19:56814380-56814380 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2665C>T; p.R889C; 19:56815777-56815777 |
skin | malignant_melanoma | Substitution - Missense |