Entrez Gene

Basic Information
Gene ID
Name
Synonymous	;;
Definition
Position
Gene Type
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

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There is no record for

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

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There is no record for

Loss of Function mutations compare to missense mutations

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There is no record for

The ratio of the loss-of-function mutations over missense mutations is .

The copy number variations for various cancers

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There is no record for

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2198C>T; p.T733I; 17:39723650-39723650	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2198C>T; p.T733I; 17:39723650-39723650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2327G>T; p.G776V; 17:39724745-39724745	ovary	carcinoma	Substitution - Missense
c.2327G>T; p.G776V; 17:39724745-39724745	ovary	carcinoma	Substitution - Missense
c.2327G>T; p.G776V; 17:39724745-39724745	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2326_2327insTTT; p.G776>VC; 17:39724744-39724745	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.3436C>T; p.R1146W; 17:39727712-39727712	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2326_2327insTTT; p.G776>VC; 17:39724744-39724745	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.2198C>T; p.T733I; 17:39723650-39723650	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2327G>T; p.G776V; 17:39724745-39724745	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2198C>T; p.T733I; 17:39723650-39723650	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2327G>T; p.G776V; 17:39724745-39724745	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2326_2327insTTT; p.G776>VC; 17:39724744-39724745	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.1939A>C; p.R647R; 17:39719827-39719827	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1236C>A; p.I412I; 17:39715459-39715459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2198C>T; p.T733I; 17:39723650-39723650	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1129C>T; p.L377L; 17:39712429-39712429	breast	carcinoma	Substitution - coding silent
c.874G>C; p.G292R; 17:39710454-39710454	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.874G>C; p.G292R; 17:39710454-39710454	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1177C>A; p.Q393K; 17:39715314-39715314	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2187C>T; p.G729G; 17:39723639-39723639	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2187C>T; p.G729G; 17:39723639-39723639	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.413G>A; p.R138Q; 17:39708508-39708508	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.413G>A; p.R138Q; 17:39708508-39708508	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2172G>T; p.K724N; 17:39723624-39723624	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2687G>A; p.R896H; 17:39725364-39725364	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2687G>A; p.R896H; 17:39725364-39725364	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1693C>T; p.P565S; 17:39716561-39716561	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2333_2334insGGG; p.G778_S779insG; 17:39724751-39724752	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2333_2334insGGG; p.G778_S779insG; 17:39724751-39724752	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2638G>C; p.D880H; 17:39725193-39725193	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3072G>A; p.L1024L; 17:39726916-39726916	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2669C>T; p.A890V; 17:39725346-39725346	prostate	carcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	breast	carcinoma; lobular_carcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; mixed_adenosquamous_carcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.3639C>T; p.F1213F; 17:39727915-39727915	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	ovary	low_malignant_potential_(borderline)_tumour; serous	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	ovary	low_malignant_potential_(borderline)_tumour; serous	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	ovary	low_malignant_potential_(borderline)_tumour; serous	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2326G>A; p.G776S; 17:39724744-39724744	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2524G>A; p.V842I; 17:39725079-39725079	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	ovary	low_malignant_potential_(borderline)_tumour; serous	Insertion - In frame
c.2326G>A; p.G776S; 17:39724744-39724744	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2326G>A; p.G776S; 17:39724744-39724744	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2326G>A; p.G776S; 17:39724744-39724744	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2524G>A; p.V842I; 17:39725079-39725079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2524G>A; p.V842I; 17:39725079-39725079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2524G>A; p.V842I; 17:39725079-39725079	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.3639C>T; p.F1213F; 17:39727915-39727915	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	ovary	low_malignant_potential_(borderline)_tumour; serous	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.2524G>A; p.V842I; 17:39725079-39725079	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	breast	carcinoma	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2524G>A; p.V842I; 17:39725079-39725079	large_intestine; rectum	NS	Substitution - Missense
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	ovary	low_malignant_potential_(borderline)_tumour; serous	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2324_2325ins12; p.A775_G776insYVMA; 17:39724742-39724743	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.3679C>T; p.P1227S; 17:39727955-39727955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2339_2340insTGGCTCCCC; p.P780_Y781insGSP; 17:39724757-39724758	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.3115G>A; p.A1039T; 17:39726959-39726959	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.318G>A; p.Q106Q; 17:39708413-39708413	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3115G>A; p.A1039T; 17:39726959-39726959	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1269_1271CGT>AAA; p.S423_V424>RN; 17:39715492-39715494	pancreas	carcinoma	Complex - compound substitution
c.3173A>C; p.D1058A; 17:39727308-39727308	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3173A>C; p.D1058A; 17:39727308-39727308	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3173A>C; p.D1058A; 17:39727308-39727308	breast	carcinoma	Substitution - Missense
c.2238G>A; p.V746V; 17:39723941-39723941	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1248G>A; p.P416P; 17:39715471-39715471	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.3499C>T; p.L1167L; 17:39727775-39727775	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2390T>C; p.V797A; 17:39724808-39724808	breast	carcinoma	Substitution - Missense
c.2718G>A; p.W906*; 17:39725395-39725395	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.105C>T; p.L35L; 17:39707021-39707021	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma	Substitution - Missense
c.3732G>T; p.E1244D; 17:39728008-39728008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2263_2278>G; p.L755_S760>A; 17:39723966-39723981	breast	carcinoma; ductal_carcinoma	Complex - deletion inframe
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma_in_situ; ductal_carcinoma_in_situ	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.58G>A; p.A20T; 17:39700296-39700296	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	stomach	carcinoma; undifferentiated_adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.146T>C; p.L49P; 17:39707062-39707062	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3061G>C; p.E1021Q; 17:39726905-39726905	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2264T>C; p.L755S; 17:39723967-39723967	small_intestine; duodenum	carcinoma; adenocarcinoma	Substitution - Missense
c.1988T>C; p.L663P; 17:39723360-39723360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3651C>T; p.F1217F; 17:39727927-39727927	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2326G>CTTT; p.G776>LC; 17:39724744-39724744	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.2706G>C; p.Q902H; 17:39725383-39725383	prostate	adenoma	Substitution - Missense
c.101G>A; p.R34Q; 17:39707017-39707017	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1459C>T; p.R487W; 17:39715885-39715885	skin	malignant_melanoma	Substitution - Missense
c.101G>A; p.R34Q; 17:39707017-39707017	haematopoietic_and_lymphoid_tissue; abdomen	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1459C>T; p.R487W; 17:39715885-39715885	skin	malignant_melanoma	Substitution - Missense
c.1459C>T; p.R487W; 17:39715885-39715885	skin	malignant_melanoma	Substitution - Missense
c.2326_2327insTGT; p.G776>VC; 17:39724744-39724745	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.2326_2327insTGT; p.G776>VC; 17:39724744-39724745	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.2326_2327insTGT; p.G776>VC; 17:39724744-39724745	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.2326_2327insTGT; p.G776>VC; 17:39724744-39724745	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.2326_2327insTGT; p.G776>VC; 17:39724744-39724745	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.2350C>T; p.R784C; 17:39724768-39724768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2350C>T; p.R784C; 17:39724768-39724768	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.412C>T; p.R138W; 17:39708507-39708507	skin	malignant_melanoma	Substitution - Missense
c.646A>G; p.T216A; 17:39710088-39710088	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2331_2332insTGTGGG; p.V777_G778insCG; 17:39724749-39724750	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.921C>T; p.D307D; 17:39711947-39711947	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2301C>G; p.I767M; 17:39724004-39724004	breast	carcinoma	Substitution - Missense
c.2096C>T; p.P699L; 17:39723548-39723548	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2301C>G; p.I767M; 17:39724004-39724004	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.2301C>G; p.I767M; 17:39724004-39724004	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2301C>G; p.I767M; 17:39724004-39724004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2301C>G; p.I767M; 17:39724004-39724004	ovary	other; neoplasm	Substitution - Missense
c.2301C>G; p.I767M; 17:39724004-39724004	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2690G>A; p.R897Q; 17:39725367-39725367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2690G>A; p.R897Q; 17:39725367-39725367	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2278T>C; p.S760P; 17:39723981-39723981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1253G>C; p.S418T; 17:39715476-39715476	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2305G>C; p.D769H; 17:39724008-39724008	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2263_2264TT>CC; p.L755P; 17:39723966-39723967	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.2305G>C; p.D769H; 17:39724008-39724008	breast	carcinoma	Substitution - Missense
c.2263_2264TT>CC; p.L755P; 17:39723966-39723967	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Missense
c.2683C>T; p.L895F; 17:39725360-39725360	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2305G>C; p.D769H; 17:39724008-39724008	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2450T>C; p.L817P; 17:39724868-39724868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.116C>T; p.P39L; 17:39707032-39707032	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2219T>C; p.I740T; 17:39723922-39723922	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3341A>G; p.E1114G; 17:39727476-39727476	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2921C>T; p.S974F; 17:39726610-39726610	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2740G>A; p.E914K; 17:39725721-39725721	central_nervous_system; brain	glioma	Substitution - Missense
c.2740G>A; p.E914K; 17:39725721-39725721	central_nervous_system; brain	glioma	Substitution - Missense
c.2740G>A; p.E914K; 17:39725721-39725721	central_nervous_system; brain	glioma	Substitution - Missense
c.2914T>C; p.L972L; 17:39726603-39726603	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.1281C>A; p.N427K; 17:39715504-39715504	breast	carcinoma	Substitution - Missense
c.2310_2311ins12; p.E770_A771insAYVM; 17:39724728-39724729	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2991C>A; p.A997A; 17:39726835-39726835	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.793G>A; p.E265K; 17:39710373-39710373	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3524C>G; p.P1175R; 17:39727800-39727800	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2310_2311ins12; p.E770_A771insAYVM; 17:39724728-39724729	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2146A>G; p.K716E; 17:39723598-39723598	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591G>A; p.P197P; 17:39709829-39709829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.591G>A; p.P197P; 17:39709829-39709829	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2521C>G; p.L841V; 17:39725076-39725076	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.793G>A; p.E265K; 17:39710373-39710373	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2339_2340insGGGCTCCCC; p.P780_Y781insGSP; 17:39724757-39724758	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2827C>T; p.Q943*; 17:39725808-39725808	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2339_2340insGGGCTCCCC; p.P780_Y781insGSP; 17:39724757-39724758	NS	NS	Insertion - In frame
c.1744G>A; p.D582N; 17:39717326-39717326	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3481C>A; p.R1161R; 17:39727757-39727757	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.861C>T; p.G287G; 17:39710441-39710441	pancreas	carcinoma	Substitution - coding silent
c.1051C>T; p.R351*; 17:39712351-39712351	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.3457C>T; p.R1153*; 17:39727733-39727733	breast	carcinoma; lobular_carcinoma	Substitution - Nonsense
c.1763C>T; p.A588V; 17:39717345-39717345	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3172G>A; p.D1058N; 17:39727307-39727307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3391delC; p.L1131fs*1; 17:39727526-39727526	prostate	carcinoma	Deletion - Frameshift
c.2343T>C; p.Y781Y; 17:39724761-39724761	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1684C>T; p.P562S; 17:39716552-39716552	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2329G>C; p.V777L; 17:39724747-39724747	breast	carcinoma	Substitution - Missense
c.1976_1977TT>AA; p.V659E; 17:39723348-39723349	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2326G>TTGT; p.G776>LC; 17:39724744-39724744	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.1963A>G; p.I655V; 17:39723335-39723335	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1306C>G; p.L436V; 17:39715529-39715529	stomach	carcinoma	Substitution - Missense
c.2326G>TTGT; p.G776>LC; 17:39724744-39724744	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.1963A>G; p.I655V; 17:39723335-39723335	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2263T>A; p.L755M; 17:39723966-39723966	breast	carcinoma	Substitution - Missense
c.2263T>A; p.L755M; 17:39723966-39723966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3234C>T; p.S1078S; 17:39727369-39727369	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2263T>A; p.L755M; 17:39723966-39723966	skin	malignant_melanoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2057C>G; p.T686R; 17:39723429-39723429	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1738-10_1738-9insC; p.?; 17:39717310-39717311	large_intestine	carcinoma; adenocarcinoma	Unknown
c.929C>T; p.S310F; 17:39711955-39711955	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	breast	carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	stomach	adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3166G>A; p.G1056S; 17:39727301-39727301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.929C>T; p.S310F; 17:39711955-39711955	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2335_2336insCTGTGGGCT; p.S779_P780insVGS; 17:39724753-39724754	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2335_2336insCTGTGGGCT; p.S779_P780insVGS; 17:39724753-39724754	lung	carcinoma	Insertion - In frame
c.466C>T; p.Q156*; 17:39709344-39709344	skin	malignant_melanoma	Substitution - Nonsense
c.2329G>A; p.V777M; 17:39724747-39724747	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2329G>A; p.V777M; 17:39724747-39724747	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2811G>A; p.K937K; 17:39725792-39725792	skin	malignant_melanoma	Substitution - coding silent
c.926G>C; p.G309A; 17:39711952-39711952	breast	carcinoma	Substitution - Missense
c.931T>A; p.C311S; 17:39711957-39711957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2351G>A; p.R784H; 17:39724769-39724769	small_intestine; jejunum	carcinoma; adenocarcinoma	Substitution - Missense
c.2230G>A; p.E744K; 17:39723933-39723933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3381C>T; p.Y1127Y; 17:39727516-39727516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.878C>T; p.A293V; 17:39710458-39710458	skin	malignant_melanoma	Substitution - Missense
c.1931C>T; p.A644V; 17:39719819-39719819	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2570A>G; p.N857S; 17:39725125-39725125	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2570A>G; p.N857S; 17:39725125-39725125	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2570A>G; p.N857S; 17:39725125-39725125	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3382G>A; p.V1128I; 17:39727517-39727517	pancreas	carcinoma	Substitution - Missense
c.3382G>A; p.V1128I; 17:39727517-39727517	pancreas	carcinoma	Substitution - Missense
c.2550C>T; p.N850N; 17:39725105-39725105	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.3382G>A; p.V1128I; 17:39727517-39727517	pancreas	carcinoma	Substitution - Missense
c.1801C>T; p.P601S; 17:39717383-39717383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3386delC; p.L1131fs*1; 17:39727521-39727521	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2089G>T; p.V697L; 17:39723541-39723541	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3730G>C; p.E1244Q; 17:39728006-39728006	urinary_tract; bladder	carcinoma	Substitution - Missense
c.649C>T; p.R217C; 17:39710091-39710091	pancreas	carcinoma	Substitution - Missense
c.1794C>T; p.A598A; 17:39717376-39717376	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.649C>T; p.R217C; 17:39710091-39710091	pancreas	carcinoma	Substitution - Missense
c.649C>T; p.R217C; 17:39710091-39710091	pancreas	carcinoma	Substitution - Missense
c.649C>T; p.R217C; 17:39710091-39710091	pancreas	carcinoma	Substitution - Missense
c.649C>T; p.R217C; 17:39710091-39710091	pancreas	carcinoma	Substitution - Missense
c.2318T>C; p.V773A; 17:39724736-39724736	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1247C>T; p.P416L; 17:39715470-39715470	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.402A>T; p.P134P; 17:39708497-39708497	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.402A>T; p.P134P; 17:39708497-39708497	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2384A>T; p.Q795L; 17:39724802-39724802	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2490C>T; p.A830A; 17:39724908-39724908	pancreas	other; borderline_tumour	Substitution - coding silent
c.2884G>A; p.D962N; 17:39726573-39726573	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2884G>A; p.D962N; 17:39726573-39726573	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2484G>A; p.Q828Q; 17:39724902-39724902	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2115G>A; p.A705A; 17:39723567-39723567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2484G>A; p.Q828Q; 17:39724902-39724902	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1835C>A; p.P612H; 17:39717417-39717417	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2115G>A; p.A705A; 17:39723567-39723567	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.829G>T; p.D277Y; 17:39710409-39710409	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.829G>T; p.D277Y; 17:39710409-39710409	urinary_tract; bladder	carcinoma	Substitution - Missense
c.937C>G; p.L313V; 17:39711963-39711963	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3656A>G; p.N1219S; 17:39727932-39727932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2384A>G; p.Q795R; 17:39724802-39724802	upper_aerodigestive_tract; head_neck	carcinoma	Substitution - Missense
c.3209C>T; p.A1070V; 17:39727344-39727344	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.917C>T; p.T306M; 17:39711943-39711943	breast	carcinoma	Substitution - Missense
c.830A>G; p.D277G; 17:39710410-39710410	urinary_tract; bladder	carcinoma	Substitution - Missense
c.962A>G; p.E321G; 17:39711988-39711988	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.830A>G; p.D277G; 17:39710410-39710410	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2504A>T; p.Y835F; 17:39725059-39725059	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.929C>A; p.S310Y; 17:39711955-39711955	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>A; p.S310Y; 17:39711955-39711955	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.929C>A; p.S310Y; 17:39711955-39711955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.929C>A; p.S310Y; 17:39711955-39711955	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2592C>T; p.F864F; 17:39725147-39725147	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3453G>A; p.S1151S; 17:39727729-39727729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2985C>T; p.G995G; 17:39726829-39726829	skin	malignant_melanoma	Substitution - coding silent
c.929C>A; p.S310Y; 17:39711955-39711955	urinary_tract; bladder	carcinoma	Substitution - Missense
c.929C>A; p.S310Y; 17:39711955-39711955	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.321C>T; p.L107L; 17:39708416-39708416	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2584A>G; p.T862A; 17:39725139-39725139	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2584A>G; p.T862A; 17:39725139-39725139	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2584A>G; p.T862A; 17:39725139-39725139	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2584A>G; p.T862A; 17:39725139-39725139	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3235G>A; p.E1079K; 17:39727370-39727370	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.900C>T; p.P300P; 17:39710480-39710480	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.928T>C; p.S310P; 17:39711954-39711954	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2036A>T; p.Q679L; 17:39723408-39723408	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1284G>A; p.L428L; 17:39715507-39715507	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - coding silent
c.2305G>A; p.D769N; 17:39724008-39724008	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2461G>T; p.D821Y; 17:39724879-39724879	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1269C>A; p.S423R; 17:39715492-39715492	pancreas	carcinoma	Substitution - Missense
c.1471C>T; p.Q491*; 17:39715897-39715897	skin; arm	malignant_melanoma	Substitution - Nonsense
c.655G>A; p.V219I; 17:39710097-39710097	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2326_2327insTCT; p.G776>VC; 17:39724744-39724745	lung	carcinoma; adenocarcinoma	Complex - insertion inframe
c.650G>A; p.R217H; 17:39710092-39710092	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2397G>T; p.Q799H; 17:39724815-39724815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2351G>T; p.R784L; 17:39724769-39724769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2316C>T; p.Y772Y; 17:39724734-39724734	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.274A>G; p.R92G; 17:39708369-39708369	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2379G>A; p.T793T; 17:39724797-39724797	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1203G>A; p.E401E; 17:39715340-39715340	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2396A>C; p.Q799P; 17:39724814-39724814	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2697C>A; p.F899L; 17:39725374-39725374	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2541C>T; p.A847A; 17:39725096-39725096	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.1899-2A>T; p.?; 17:39719785-39719785	lung	carcinoma; adenocarcinoma	Unknown
c.788T>C; p.I263T; 17:39710368-39710368	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2251G>A; p.A751T; 17:39723954-39723954	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1970C>T; p.A657V; 17:39723342-39723342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.689C>T; p.P230L; 17:39710131-39710131	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2145G>T; p.L715L; 17:39723597-39723597	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3518T>C; p.L1173P; 17:39727794-39727794	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.739C>T; p.P247S; 17:39710181-39710181	skin	malignant_melanoma	Substitution - Missense
c.926G>A; p.G309E; 17:39711952-39711952	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.365C>T; p.P122L; 17:39708460-39708460	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1410T>G; p.H470Q; 17:39715836-39715836	breast	carcinoma	Substitution - Missense
c.2085+8G>A; p.?; 17:39723465-39723465	large_intestine	carcinoma; adenocarcinoma	Unknown
c.2447G>A; p.R816H; 17:39724865-39724865	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3595C>A; p.P1199T; 17:39727871-39727871	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1738-10delC; p.?; 17:39717310-39717310	large_intestine	carcinoma; adenocarcinoma	Unknown
c.288G>A; p.L96L; 17:39708383-39708383	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3595C>A; p.P1199T; 17:39727871-39727871	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1396G>A; p.A466T; 17:39715822-39715822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.914C>G; p.S305C; 17:39711940-39711940	breast	carcinoma	Substitution - Missense
c.2680A>C; p.I894L; 17:39725357-39725357	prostate	carcinoma	Substitution - Missense
c.469C>T; p.R157W; 17:39709347-39709347	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1757C>G; p.A586G; 17:39717339-39717339	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.3688_3689insG; p.A1232fs*>25; 17:39727964-39727965	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.922G>A; p.V308M; 17:39711948-39711948	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2502C>T; p.S834S; 17:39725057-39725057	skin	malignant_melanoma	Substitution - coding silent
c.2909G>T; p.R970L; 17:39726598-39726598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2909G>T; p.R970L; 17:39726598-39726598	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2475G>A; p.W825*; 17:39724893-39724893	upper_aerodigestive_tract; head_neck	carcinoma	Substitution - Nonsense
c.1878C>A; p.C626*; 17:39717460-39717460	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2977G>A; p.D993N; 17:39726821-39726821	skin	malignant_melanoma	Substitution - Missense
c.1878C>A; p.C626*; 17:39717460-39717460	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1574C>T; p.P525L; 17:39716361-39716361	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2110G>A; p.G704R; 17:39723562-39723562	pancreas	carcinoma	Substitution - Missense
c.3156C>G; p.T1052T; 17:39727000-39727000	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.722C>T; p.A241V; 17:39710164-39710164	urinary_tract; bladder	carcinoma	Substitution - Missense
c.722C>T; p.A241V; 17:39710164-39710164	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3156C>G; p.T1052T; 17:39727000-39727000	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2810A>G; p.K937R; 17:39725791-39725791	thyroid	carcinoma	Substitution - Missense
c.1404C>T; p.I468I; 17:39715830-39715830	skin	malignant_melanoma	Substitution - coding silent
c.1828T>C; p.Y610H; 17:39717410-39717410	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1979G>A; p.G660D; 17:39723351-39723351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2063G>A; p.R688Q; 17:39723435-39723435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2326G>T; p.G776C; 17:39724744-39724744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2912A>G; p.E971G; 17:39726601-39726601	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2912A>G; p.E971G; 17:39726601-39726601	ovary	carcinoma; mucinous_carcinoma	Substitution - Missense
c.2912A>G; p.E971G; 17:39726601-39726601	large_intestine; rectum	NS	Substitution - Missense
c.2912A>G; p.E971G; 17:39726601-39726601	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1271T>A; p.V424D; 17:39715494-39715494	pancreas	carcinoma	Substitution - Missense
c.2912A>G; p.E971G; 17:39726601-39726601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1946G>C; p.S649T; 17:39719834-39719834	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.291G>A; p.Q97Q; 17:39708386-39708386	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3320G>A; p.S1107N; 17:39727455-39727455	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2326G>TTAT; p.G776>LC; 17:39724744-39724744	lung; right	carcinoma; adenocarcinoma	Complex - insertion inframe
c.2766T>G; p.P922P; 17:39725747-39725747	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2686C>T; p.R896C; 17:39725363-39725363	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2686C>T; p.R896C; 17:39725363-39725363	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.760-2A>G; p.?; 17:39710338-39710338	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.2686C>T; p.R896C; 17:39725363-39725363	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.302T>G; p.I101S; 17:39708397-39708397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2670G>A; p.A890A; 17:39725347-39725347	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3628C>T; p.P1210S; 17:39727904-39727904	skin	malignant_melanoma	Substitution - Missense
c.554A>G; p.D185G; 17:39709432-39709432	thyroid	other; neoplasm	Substitution - Missense
c.2342A>G; p.Y781C; 17:39724760-39724760	upper_aerodigestive_tract; head_neck	carcinoma	Substitution - Missense
c.2691G>A; p.R897R; 17:39725368-39725368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2159T>C; p.L720P; 17:39723611-39723611	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2691G>A; p.R897R; 17:39725368-39725368	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1956G>T; p.T652T; 17:39723328-39723328	breast	carcinoma	Substitution - coding silent
c.760-10G>A; p.?; 17:39710330-39710330	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Unknown
c.1514-7A>G; p.?; 17:39716294-39716294	breast	carcinoma	Unknown
c.2775G>A; p.G925G; 17:39725756-39725756	skin	malignant_melanoma	Substitution - coding silent
c.760-1G>A; p.?; 17:39710339-39710339	lung	carcinoma; adenocarcinoma	Unknown
c.2632C>T; p.H878Y; 17:39725187-39725187	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3165C>T; p.G1055G; 17:39727300-39727300	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2632C>T; p.H878Y; 17:39725187-39725187	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1209delG; p.E404fs*27; 17:39715346-39715346	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Deletion - Frameshift
c.607C>T; p.R203C; 17:39709845-39709845	central_nervous_system; brain	glioma	Substitution - Missense
c.474C>T; p.N158N; 17:39709352-39709352	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.834G>A; p.T278T; 17:39710414-39710414	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2340_2341insGGCTCCCCA; p.P780_Y781insGSP; 17:39724758-39724759	breast	carcinoma; lobular_carcinoma	Insertion - In frame
c.664G>T; p.G222C; 17:39710106-39710106	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2340_2341insGGCTCCCCA; p.P780_Y781insGSP; 17:39724758-39724759	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2340_2341insGGCTCCCCA; p.P780_Y781insGSP; 17:39724758-39724759	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2567C>G; p.P856R; 17:39725122-39725122	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.428G>A; p.R143Q; 17:39708523-39708523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	breast	carcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	stomach	adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	pancreas	carcinoma	Substitution - Missense
c.3238G>T; p.G1080W; 17:39727373-39727373	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2033G>A; p.R678Q; 17:39723405-39723405	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1780C>T; p.P594S; 17:39717362-39717362	skin	malignant_melanoma	Substitution - Missense
c.3079C>G; p.Q1027E; 17:39726923-39726923	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.457delG; p.V153fs*2; 17:39709335-39709335	breast	carcinoma	Deletion - Frameshift
c.955A>G; p.N319D; 17:39711981-39711981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1076C>T; p.A359V; 17:39712376-39712376	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1218C>T; p.I406I; 17:39715355-39715355	skin	malignant_melanoma	Substitution - coding silent
c.1191C>T; p.L397L; 17:39715328-39715328	pancreas	carcinoma	Substitution - coding silent
c.1439T>C; p.V480A; 17:39715865-39715865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2685C>G; p.L895L; 17:39725362-39725362	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1194A>G; p.Q398Q; 17:39715331-39715331	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3089T>G; p.F1030C; 17:39726933-39726933	liver	carcinoma	Substitution - Missense
c.3089T>G; p.F1030C; 17:39726933-39726933	liver	carcinoma	Substitution - Missense
c.1270G>A; p.V424I; 17:39715493-39715493	pancreas	carcinoma	Substitution - Missense
c.2171A>G; p.K724R; 17:39723623-39723623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2325_2326ins12; p.A775_G776insYVMA; 17:39724743-39724744	lung	carcinoma	Insertion - In frame
c.2325_2326ins12; p.A775_G776insYVMA; 17:39724743-39724744	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Insertion - In frame
c.2325_2326ins12; p.A775_G776insYVMA; 17:39724743-39724744	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2325_2326ins12; p.A775_G776insYVMA; 17:39724743-39724744	ovary	low_malignant_potential_(borderline)_tumour; serous	Insertion - In frame
c.2325_2326ins12; p.A775_G776insYVMA; 17:39724743-39724744	lung	carcinoma	Insertion - In frame
c.2325_2326ins12; p.A775_G776insYVMA; 17:39724743-39724744	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Insertion - In frame
c.2325_2326ins12; p.A775_G776insYVMA; 17:39724743-39724744	lung	carcinoma	Insertion - In frame
c.2325_2326ins12; p.A775_G776insYVMA; 17:39724743-39724744	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.2325_2326ins12; p.A775_G776insYVMA; 17:39724743-39724744	lung	carcinoma	Insertion - In frame
c.2325_2326ins12; p.A775_G776insYVMA; 17:39724743-39724744	lung	carcinoma	Insertion - In frame
c.3519C>G; p.L1173L; 17:39727795-39727795	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1967C>T; p.S656F; 17:39723339-39723339	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1967C>T; p.S656F; 17:39723339-39723339	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2264T>G; p.L755W; 17:39723967-39723967	breast	carcinoma	Substitution - Missense
c.2606T>G; p.L869R; 17:39725161-39725161	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2606T>A; p.L869Q; 17:39725161-39725161	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3399C>T; p.C1133C; 17:39727534-39727534	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2602C>T; p.R868W; 17:39725157-39725157	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1132C>T; p.P378S; 17:39712432-39712432	skin	malignant_melanoma	Substitution - Missense
c.1718C>T; p.S573L; 17:39716586-39716586	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2844C>A; p.T948T; 17:39725825-39725825	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2143C>T; p.L715L; 17:39723595-39723595	skin	malignant_melanoma	Substitution - coding silent
c.2263T>C; p.L755L; 17:39723966-39723966	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2263T>C; p.L755L; 17:39723966-39723966	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2329G>T; p.V777L; 17:39724747-39724747	breast	carcinoma	Substitution - Missense
c.2329G>T; p.V777L; 17:39724747-39724747	large_intestine; colon	adenoma	Substitution - Missense
c.2329G>T; p.V777L; 17:39724747-39724747	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2329G>T; p.V777L; 17:39724747-39724747	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.2908C>T; p.R970W; 17:39726597-39726597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2329G>T; p.V777L; 17:39724747-39724747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2329G>T; p.V777L; 17:39724747-39724747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2908C>T; p.R970W; 17:39726597-39726597	ovary	carcinoma; mucinous_carcinoma	Substitution - Missense
c.2329G>T; p.V777L; 17:39724747-39724747	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2329G>T; p.V777L; 17:39724747-39724747	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2329G>T; p.V777L; 17:39724747-39724747	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2305G>T; p.D769Y; 17:39724008-39724008	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3168T>G; p.G1056G; 17:39727303-39727303	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2305G>T; p.D769Y; 17:39724008-39724008	breast	carcinoma	Substitution - Missense
c.2305G>T; p.D769Y; 17:39724008-39724008	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2305G>T; p.D769Y; 17:39724008-39724008	breast	carcinoma	Substitution - Missense
c.2305G>T; p.D769Y; 17:39724008-39724008	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3168T>G; p.G1056G; 17:39727303-39727303	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3168T>G; p.G1056G; 17:39727303-39727303	urinary_tract; bladder	carcinoma	Substitution - coding silent

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]