AiPD: Autoinhibited Protein Database

P29376

Gene name	LTK (TYK1)
Protein name	Leukocyte tyrosine kinase receptor
Names	EC 2.7.10.1 , Protein tyrosine kinase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4058
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

ALK is a receptor tyrosine kinase involved in the development of several human cancers. Its autoinhibition is mediated by an intramolecular interaction between β-sheet (β1' and β2') and DFG helix in an activation loop, which occludes the substrate binding site. The activation loop contains phosphorylation sites, which need to be phosphorylated for ALK activation.

Autoinhibitory domains (AIDs)

485-492 (β1'-sheet and β2'-sheet) SS

Target domain	510-786 (Protein kinase domain)
Relief mechanism	PTM
Assay

AID

485-492 (β1'-sheet and β2'-sheet)

Target domain

510-786 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation within the activation loop)

Assay

Accessory elements

663-688 (Activation loop from InterPro)

Target domain	510-786 (Protein kinase domain)
Relief mechanism
Assay

References

Bossi RT et al. (2010) "Crystal structures of anaplastic lymphoma kinase in complex with ATP competitive inhibitors", Biochemistry, 49, 6813-25

Donella-Deana A et al. (2005) "Unique substrate specificity of anaplastic lymphoma kinase (ALK): development of phosphoacceptor peptides for the assay of ALK activity", Biochemistry, 44, 8533-42

Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40

Tu CH et al. (2016) "Pyrazolylamine Derivatives Reveal the Conformational Switching between Type I and Type II Binding Modes of Anaplastic Lymphoma Kinase (ALK)", Journal of medicinal chemistry, 59, 3906-19

Uchikawa E et al. (2019) "Activation mechanism of the insulin receptor revealed by cryo-EM structure of the fully liganded receptor-ligand complex", eLife, 8,

Nielsen J et al. (2022) "Structural Investigations of Full-Length Insulin Receptor Dynamics and Signalling", Journal of molecular biology, 434, 167458

Chen YS et al. (2021) "Insertion of a synthetic switch into insulin provides metabolite-dependent regulation of hormone-receptor activation", Proceedings of the National Academy of Sciences of the United States of America, 118,

Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96

Autoinhibited structure

Activated structure

3 structures for P29376

Entry ID	Method	Resolution	Chain	Position	Source
7NX0	X-ray	195 A	B/C	63-378	PDB
7NX1	X-ray	130 A	A	63-378	PDB
AF-P29376-F1	Predicted				AlphaFoldDB

1153 variants for P29376

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1371195304	4	W>*		No	gnomAD
rs558634234	4	W>*		No	1000Genomes ExAC gnomAD
rs2051572525	4	W>R		No	Ensembl
rs752146842	5	G>E		No	ExAC TOPMed gnomAD
rs775385051	5	G>R		No	ExAC TOPMed gnomAD
rs1221206842	6	Q>*		No	TOPMed
rs1401124761	7	L>R		No	gnomAD
rs1595474254	9	V>G		No	Ensembl
rs150347278	10	W>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs777405987	11	F>L		No	ExAC TOPMed gnomAD
rs749006599	11	F>V		No	ExAC gnomAD
rs2051570651	11	F>Y		No	TOPMed gnomAD
rs755663662	12	G>*		No	ExAC TOPMed gnomAD
rs755663662	12	G>R		No	ExAC TOPMed gnomAD
rs1210960156	13	A>T		No	TOPMed gnomAD
rs554159736	14	A>S		No	ExAC TOPMed gnomAD
TCGA novel	14	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780158492	15	G>D		No	ExAC gnomAD
rs2051569781	15	G>S		No	TOPMed
rs1468527355	16	A>S		No	TOPMed
rs750277046	17	I>V		No	ExAC TOPMed gnomAD
COSM961440 COSM961441	18	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1314870972	19	C>R		No	gnomAD
rs371616916	20	S>C		No	ESP ExAC TOPMed gnomAD
rs371616916	20	S>F		No	ESP ExAC TOPMed gnomAD
rs868674632	21	S>C		No	Ensembl
rs767704043	21	S>N		No	ExAC TOPMed gnomAD
rs1391979483	22	P>L		No	gnomAD
rs1467037387	22	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1473050206	23	G>E		No	gnomAD
rs1369697176	25	Q>*		No	TOPMed gnomAD
rs1178993257	25	Q>R		No	gnomAD
TCGA novel	26	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1363907330	26	E>Q		No	TOPMed
rs759539035	26	E>V		No	ExAC TOPMed gnomAD
rs1200104995	27	T>S		No	gnomAD
rs56063273	28	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	29	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs763409325	30	R>G		No	ExAC gnomAD
rs773603896	30	R>L		No	ExAC gnomAD
rs773603896	30	R>Q		No	ExAC gnomAD
rs763409325	30	R>W		No	ExAC gnomAD
rs770030394	31	S>F		No	ExAC
rs1335227250	32	S>L		No	TOPMed gnomAD
rs747889199	32	S>T		No	ExAC gnomAD
rs1270582457	33	P>S		No	Ensembl
rs1270582457	33	P>T		No	Ensembl
rs1310320671	35	P>L		No	TOPMed gnomAD
rs1310320671	35	P>Q		No	TOPMed gnomAD
rs2051545474	35	P>T		No	TOPMed
rs1043670433	37	A>P		No	TOPMed
rs776139152	39	P>A		No	ExAC gnomAD
rs768301148	39	P>L		No	ExAC gnomAD
rs374021880	40	S>N		No	ESP ExAC TOPMed gnomAD
rs2140738263	40	S>R		No	Ensembl
rs374021880	40	S>T		No	ESP ExAC TOPMed gnomAD
rs772264247	41	P>L		No	ExAC gnomAD
rs140343272	41	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs756998856	42	R>G		No	ExAC gnomAD
rs2305030 VAR_031569	42	R>Q		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756998856	42	R>W		No	ExAC gnomAD
rs755144048	43	D>G		No	ExAC gnomAD
rs766412589	44	P>A		No	ExAC gnomAD
rs2051542399	44	P>L		No	TOPMed
rs766412589	44	P>T		No	ExAC gnomAD
TCGA novel	46	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2140738088	47	S>R		No	Ensembl
rs542940768	48	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs765697047	49	P>A		No	ExAC gnomAD
rs762101780	49	P>L		No	ExAC gnomAD
rs768226315	50	P>L		No	ExAC gnomAD
rs1286813978	50	P>S		No	gnomAD
rs974071209	51	S>G		No	TOPMed
rs372292312	51	S>I		No	ESP ExAC TOPMed gnomAD
rs2051541361	51	S>R		No	TOPMed gnomAD
rs372292312	51	S>T		No	ESP ExAC TOPMed gnomAD
rs775190514	52	I>M		No	ExAC gnomAD
rs745867076	54	E>*		No	ExAC TOPMed gnomAD
rs745867076	54	E>K		No	ExAC TOPMed gnomAD
rs368397565	55	P>A		No	ESP TOPMed gnomAD
TCGA novel	56	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1316217941	57	S>A		No	gnomAD
rs778720754	57	S>F		No	ExAC gnomAD
rs757159916	58	P>L		No	ExAC TOPMed gnomAD
rs757159916	58	P>Q		No	ExAC TOPMed gnomAD
rs1159864227	60	N>S		No	gnomAD
rs2051540260	61	S>F		No	TOPMed gnomAD
TCGA novel rs2051540260	61	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs377388642	63	G>D		No	ESP ExAC TOPMed gnomAD
rs777581746	63	G>S		No	ExAC gnomAD
rs377388642	63	G>V		No	ESP ExAC TOPMed gnomAD
rs960966888	64	T>I		No	TOPMed gnomAD
rs960966888	64	T>S		No	TOPMed gnomAD
TCGA novel	65	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1211104047	65	E>K		No	gnomAD
COSM416492 COSM416491	65	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs777474824	66	G>E		No	ExAC TOPMed gnomAD
rs201734476	66	G>R		No	1000Genomes ExAC TOPMed gnomAD
COSM4054514 COSM4054515	67	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	68	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2140737185	68	W>C		No	Ensembl
rs1318311011 RCV000761905	68	W>L		No	ClinVar TOPMed dbSNP gnomAD
rs1318311011	68	W>S		No	TOPMed gnomAD
rs1354341185	71	S>Y		No	gnomAD
rs2051532848	72	T>A		No	TOPMed
rs780256038	72	T>I		No	ExAC gnomAD
rs2051532156	74	G>E		No	TOPMed
rs374997462	74	G>R		No	ESP ExAC TOPMed gnomAD
rs779021709	75	A>V		No	ExAC gnomAD
rs370330041	78	R>G		No	ESP ExAC TOPMed gnomAD
rs1474475278	78	R>P		No	TOPMed gnomAD
rs1474475278 COSM312668 COSM312667	78	R>Q	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs569016819	79	H>N		No	1000Genomes ExAC TOPMed gnomAD
rs558503543	79	H>R		No	1000Genomes ExAC TOPMed gnomAD
rs569016819	79	H>Y		No	1000Genomes ExAC TOPMed gnomAD
rs759188504	80	G>W		No	ExAC gnomAD
rs2051529985	81	P>R		No	Ensembl
rs1401874647	82	T>K		No	gnomAD
rs1259743901	83	Q>*		No	TOPMed gnomAD
rs1269810956	84	T>K		No	TOPMed gnomAD
rs770450764	85	Q>P		No	ExAC gnomAD
rs1290012319	87	D>G		No	gnomAD
rs1009516066	88	G>R		No	TOPMed gnomAD
rs1378118333	89	A>E		No	gnomAD
rs1447058281	89	A>P		No	TOPMed gnomAD
rs1447058281	89	A>S		No	TOPMed gnomAD
rs1378118333	89	A>V		No	gnomAD
TCGA novel	90	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2140736597	92	G>E		No	Ensembl
rs769650708	92	G>R		No	ExAC gnomAD
rs780928538	93	T>I		No	ExAC gnomAD
rs780928538	93	T>N		No	ExAC gnomAD
rs748990382	95	V>L		No	ExAC TOPMed gnomAD
rs748990382	95	V>M		No	ExAC TOPMed gnomAD
rs746084689	96	V>M		No	ExAC TOPMed gnomAD
rs1191477721	98	T>I		No	gnomAD
rs1191477721	98	T>N		No	gnomAD
rs757354270	98	T>P		No	ExAC gnomAD
rs1047240655	99	V>G		No	TOPMed gnomAD
rs1173498026	99	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1288638249	101	A>D		No	TOPMed
rs756641000	102	A>S		No	ExAC gnomAD
rs756641000	102	A>T		No	ExAC gnomAD
rs753141225	102	A>V		No	ExAC TOPMed gnomAD
rs887978481	103	G>E		No	TOPMed gnomAD
COSM1290377 COSM1290378 rs1283382339	103	G>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated TOPMed gnomAD
rs199617843	104	Q>K		No	1000Genomes
rs1240439312	105	L>V		No	TOPMed gnomAD
rs1221645647	106	R>G		No	Ensembl
rs754634829	107	G>D		No	ExAC gnomAD
rs546957717	108	V>G		No	1000Genomes TOPMed gnomAD
rs751210285	108	V>L		No	ExAC TOPMed gnomAD
rs751210285	108	V>M		No	ExAC TOPMed gnomAD
rs765867587	109	Q>*		No	ExAC TOPMed gnomAD
rs765867587	109	Q>K		No	ExAC TOPMed gnomAD
rs2051525482	110	L>V		No	TOPMed
rs1485020748	111	W>G		No	TOPMed
rs762526230	112	R>C		No	ExAC TOPMed gnomAD
rs765193047	113	V>M		No	ExAC TOPMed gnomAD
rs761710407	114	P>L		No	ExAC
rs761710407	114	P>Q		No	ExAC
rs1171987487	115	G>A		No	gnomAD
rs1382447534	115	G>C		No	gnomAD
rs1049203690	117	G>A		No	TOPMed gnomAD
rs2140735965	118	Q>E		No	Ensembl
rs974092287	118	Q>L		No	TOPMed gnomAD
COSM1470730 COSM1470729	120	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201107692	120	L>Q		No	gnomAD
rs1034087389	121	I>T		No	TOPMed gnomAD
COSM1478097 COSM1478098	122	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1342460150	124	Y>*		No	gnomAD
rs1310595333	125	G>*		No	gnomAD
rs1310595333	125	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1158996827	126	A>V		No	TOPMed
rs1463913574	128	G>S		No	gnomAD
rs776548533	129	G>C		No	ExAC
rs868832993	129	G>D		No	Ensembl
rs200377822	130	K>I		No	TOPMed gnomAD
rs200377822	130	K>T		No	TOPMed gnomAD
rs763872314	132	A>S		No	ExAC gnomAD
rs763872314	132	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs760533366	132	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1002984932	133	K>E		No	Ensembl
rs775100332	133	K>R		No	ExAC TOPMed gnomAD
rs749488867	134	N>K		No	ExAC TOPMed gnomAD
rs771217185	134	N>T		No	ExAC gnomAD
rs2051502142	135	H>Q		No	Ensembl
rs1424058775	137	S>*		No	TOPMed gnomAD
rs1424058775	137	S>L		No	TOPMed gnomAD
rs2051501596	138	R>Q		No	TOPMed gnomAD
rs371228281	139	A>E		No	ESP ExAC gnomAD
rs926674310	139	A>T		No	TOPMed gnomAD
TCGA novel	139	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1238380968	140	H>Q		No	TOPMed gnomAD
rs200347907	140	H>R		No	ESP TOPMed gnomAD
rs781722842	141	G>S		No	ExAC TOPMed gnomAD
rs1199839512	142	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2051499977	143	F>L		No	TOPMed
rs1266144746	144	V>L		No	TOPMed
rs558612499	147	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs1232126663	149	S>F		No	TOPMed gnomAD
rs1315175599	151	G>A		No	gnomAD
rs956530109	151	G>C		No	TOPMed gnomAD
rs1315175599	151	G>D		No	gnomAD
rs956530109	151	G>S		No	TOPMed gnomAD
rs758121248	152	L>I		No	ExAC TOPMed gnomAD
rs267604185	153	G>R		No	Ensembl
rs778464786	154	E>G		No	ExAC
rs142529901	154	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1388433063	155	S>L		No	TOPMed gnomAD
rs964291135	156	L>P		No	TOPMed
rs1458023949	157	Y>C		No	gnomAD
rs2051496542	158	I>L		No	TOPMed
rs1566875044	159	L>M		No	Ensembl
rs756764727	159	L>P		No	ExAC TOPMed gnomAD
rs1566875044	159	L>V		No	Ensembl
rs2051495889	160	V>M		No	TOPMed gnomAD
rs753287594	161	G>A		No	ExAC TOPMed gnomAD
COSM3886943 COSM3886942	161	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs753287594	161	G>V		No	ExAC TOPMed gnomAD
rs1237979099	162	Q>H		No	gnomAD
rs764115859	164	G>A		No	ExAC TOPMed gnomAD
rs764115859	164	G>E		No	ExAC TOPMed gnomAD
rs1335636108	164	G>R		No	TOPMed
rs1265942197	165	E>D		No	TOPMed gnomAD
rs760491521	165	E>K		No	ExAC gnomAD
rs760491521	165	E>Q		No	ExAC gnomAD
rs752575788	166	D>H		No	ExAC TOPMed gnomAD
rs752575788	166	D>Y		No	ExAC TOPMed gnomAD
rs763323856	167	A>S		No	ExAC TOPMed gnomAD
rs763323856	167	A>T		No	ExAC TOPMed gnomAD
rs2051494344	167	A>V		No	TOPMed
rs898688700	168	C>S		No	TOPMed gnomAD
rs770070963	169	P>A		No	ExAC TOPMed gnomAD
rs770070963	169	P>S		No	ExAC TOPMed gnomAD
rs770070963	169	P>T		No	ExAC TOPMed gnomAD
rs761993935	170	G>A		No	ExAC TOPMed gnomAD
rs2051493823	170	G>R		No	TOPMed
rs1381472682	172	S>G		No	gnomAD
rs1440863494	172	S>N		No	gnomAD
rs981181801	172	S>R		No	TOPMed gnomAD
rs1284934527	173	P>L		No	TOPMed gnomAD
rs1284934527	173	P>R		No	TOPMed gnomAD
rs768608231	174	E>D		No	ExAC TOPMed gnomAD
rs1200867062	176	Q>H		No	gnomAD
rs761314631	177	L>F		No	ExAC gnomAD
rs1276293757	177	L>H		No	gnomAD
rs2051482382	178	V>L		No	gnomAD
rs1445385531	179	C>*		No	gnomAD
rs1279474964	179	C>Y		No	TOPMed gnomAD
rs2051481858	181	G>A		No	gnomAD
rs1736682547	181	G>R		No	TOPMed gnomAD
rs1736682547	181	G>W		No	TOPMed gnomAD
rs1339467646	182	E>*		No	gnomAD
rs774659840	183	S>F		No	ExAC TOPMed gnomAD
rs746253354	183	S>P		No	ExAC gnomAD
rs770611218	184	R>*		No	ExAC TOPMed gnomAD
rs770611218	184	R>G		No	ExAC TOPMed gnomAD
rs748868150	184	R>P		No	ExAC gnomAD
rs2051480829	186	V>A		No	gnomAD
rs777397263	186	V>F		No	ExAC gnomAD
rs867554871	187	E>*		No	Ensembl
rs1025241692	187	E>D		No	gnomAD
rs866986201	188	E>D		No	Ensembl
rs1471834677	188	E>K		No	TOPMed gnomAD
rs1188492839	189	H>Q		No	TOPMed gnomAD
rs1454032546	189	H>R		No	TOPMed gnomAD
rs755574467	189	H>Y		No	ExAC gnomAD
rs2051479933	190	A>E		No	TOPMed
rs747626360	190	A>S		No	ExAC gnomAD
rs2051479933	190	A>V		No	TOPMed
rs2051479759	191	A>T		No	TOPMed
rs781285086	192	M>I		No	ExAC TOPMed gnomAD
rs2051479543	193	D>N		No	Ensembl
rs2051479454	194	G>R		No	gnomAD
rs754910989	195	S>G		No	ExAC
rs754910989	195	S>R		No	ExAC
rs751428182	195	S>R		No	ExAC TOPMed gnomAD
rs1384991706	196	E>K		No	TOPMed
rs1308941111	197	G>V		No	TOPMed
rs1274536602	199	P>Q		No	TOPMed gnomAD
rs1274536602	199	P>R		No	TOPMed gnomAD
rs1318447612	199	P>S		No	TOPMed gnomAD
TCGA novel	200	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1226154518	201	S>A		No	gnomAD
rs866842553	201	S>L		No	TOPMed gnomAD
rs866842553	201	S>W		No	TOPMed gnomAD
rs1449686154	202	R>G		No	gnomAD
rs1351704980	202	R>Q		No	TOPMed gnomAD
rs1329671758	203	R>C		No	TOPMed gnomAD
rs1329671758	203	R>G		No	TOPMed gnomAD
rs2051477664	203	R>H		No	TOPMed
rs2051477664	203	R>L		No	TOPMed
rs993778010	204	W>*		No	Ensembl
rs911142674	204	W>G		No	gnomAD
rs911142674	204	W>R		No	gnomAD
rs1413163206	205	A>G		No	gnomAD
rs757613326	205	A>T		No	ExAC TOPMed gnomAD
rs2051476766	207	G>S		No	Ensembl
rs1488470175	208	G>V		No	TOPMed gnomAD
rs2051476150	210	G>S		No	TOPMed gnomAD
rs2051476054	210	G>V		No	TOPMed
rs760687933	212	G>R		No	ExAC TOPMed gnomAD
rs1595469899	213	G>A		No	Ensembl
rs1025260534	213	G>S		No	TOPMed gnomAD
rs1311766069	214	A>G		No	TOPMed gnomAD
rs1877765972	214	A>T		No	TOPMed
rs1311766069	214	A>V		No	TOPMed gnomAD
rs1299847587	216	Y>H		No	TOPMed gnomAD
rs1299847587	216	Y>N		No	TOPMed gnomAD
rs1390617188	217	V>I		No	TOPMed
rs775590831	218	F>I		No	1000Genomes ExAC TOPMed gnomAD
rs768044657	218	F>L		No	ExAC TOPMed gnomAD
rs1248424025	219	R>Q		No	TOPMed
rs2051474323	219	R>W		No	Ensembl
rs764245105	220	V>L		No	ExAC gnomAD
rs756320474	221	R>H		No	ExAC gnomAD
rs756320474	221	R>P		No	ExAC gnomAD
rs1274679990	221	R>S		No	TOPMed
rs767564117	222	A>D		No	ExAC TOPMed gnomAD
rs752815554	222	A>S		No	ExAC TOPMed gnomAD
rs752815554	222	A>T		No	ExAC TOPMed gnomAD
rs767564117	222	A>V		No	ExAC TOPMed gnomAD
rs760091722	224	E>*		No	ExAC
rs760091722	224	E>Q		No	ExAC
rs2051462987	225	L>R		No	TOPMed gnomAD
rs1201487558	225	L>V		No	TOPMed gnomAD
rs752055318	226	E>K		No	ExAC TOPMed gnomAD
rs55739813	227	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs55739813	227	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1261755301	227	P>S		No	gnomAD
rs2140729775	228	L>F		No	Ensembl
rs763240411	230	V>L		No	ExAC gnomAD
rs773572829	231	A>E		No	ExAC TOPMed gnomAD
rs773572829	231	A>V		No	ExAC TOPMed gnomAD
rs1208515845	232	A>V		No	gnomAD
rs1264364888	233	G>E		No	gnomAD
rs2051461738	235	G>C		No	TOPMed
rs1011193962	236	G>C		No	TOPMed gnomAD
rs1011193962	236	G>S		No	TOPMed gnomAD
rs768280164	236	G>V		No	ExAC gnomAD
rs1244868369	237	R>P		No	TOPMed gnomAD
rs746456452	237	R>W		No	ExAC gnomAD
rs866425461	239	Y>C		No	Ensembl
rs772000191	240	L>V		No	ExAC TOPMed gnomAD
rs1381156390	242	P>L		No	TOPMed gnomAD
COSM1559450 COSM1559449 rs192402541	243	R>Q	large_intestine central_nervous_system [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1031234465	243	R>W		No	TOPMed gnomAD
rs2051460334	244	D>N		No	TOPMed
rs778739368	245	R>G		No	ExAC gnomAD
rs867556404	245	R>Q		No	Ensembl
rs752905210	246	G>V		No	ExAC gnomAD
rs569787070	247	R>W		No	ExAC TOPMed gnomAD
rs2051459607	248	T>I		No	TOPMed
rs1483163922	249	Q>*		No	gnomAD
rs1305299861	250	A>V		No	gnomAD
rs2051459343	251	S>F		No	1000Genomes TOPMed
rs2051459343	251	S>Y		No	1000Genomes TOPMed
rs1045600228	252	P>R		No	TOPMed gnomAD
rs1257947153	253	E>D		No	gnomAD
rs751580297	253	E>K		No	ExAC gnomAD
rs2051458787	255	L>Q		No	TOPMed
rs2140729417	258	R>C		No	Ensembl
rs949880458	258	R>H		No	TOPMed gnomAD
rs949880458	258	R>L		No	TOPMed gnomAD
rs1293371020	259	S>P		No	Ensembl
rs1309323187	260	E>Q		No	gnomAD
rs2051458131	260	E>V		No	Ensembl
rs918376428	263	G>E		No	Ensembl
rs1395603499	263	G>R		No	1000Genomes gnomAD
rs763473710	264	S>C		No	1000Genomes ExAC TOPMed gnomAD
rs763473710	264	S>G		No	1000Genomes ExAC TOPMed gnomAD
rs1205035425	264	S>N		No	TOPMed gnomAD
rs765609474	265	G>A		No	ExAC TOPMed gnomAD
rs765609474	265	G>D		No	ExAC TOPMed gnomAD
rs1402514539	265	G>S		No	TOPMed gnomAD
rs1399509353	266	G>R		No	TOPMed gnomAD
rs1399509353	266	G>W		No	TOPMed gnomAD
rs903760336	267	R>G		No	Ensembl
rs2051456950	267	R>K		No	gnomAD
rs918517087	268	G>A		No	TOPMed gnomAD
rs761427498	269	G>A		No	ExAC TOPMed gnomAD
rs761427498	269	G>E		No	ExAC TOPMed gnomAD
rs972591778	269	G>W		No	TOPMed gnomAD
rs1452592864	271	A>T		No	TOPMed gnomAD
rs1375859564	273	G>V		No	gnomAD
rs1277508399	274	G>R		No	TOPMed gnomAD
rs2051452526	275	G>R		No	Ensembl
rs1329532576	275	G>V		No	gnomAD
rs1387962322	276	G>S		No	1000Genomes TOPMed gnomAD
rs1595468648	277	W>*		No	Ensembl
TCGA novel	279	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2140728614	280	R>G		No	Ensembl
rs371555228	280	R>L		No	Ensembl
rs989663517	282	P>A		No	TOPMed gnomAD
rs989663517	282	P>S		No	TOPMed gnomAD
rs2051451513	283	S>C		No	Ensembl
rs1346038988	283	S>T		No	TOPMed gnomAD
rs1424711608	284	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2140728536	285	Q>R		No	Ensembl
rs2051451069	286	A>D		No	TOPMed gnomAD
rs2051451069	286	A>G		No	TOPMed gnomAD
rs770753186	286	A>P		No	ExAC TOPMed gnomAD
rs770753186	286	A>S		No	ExAC TOPMed gnomAD
rs2051450790	288	R>C		No	Ensembl
rs1156448342	288	R>H		No	gnomAD
rs2140728474	289	S>P		No	Ensembl
rs2051450510	290	L>P		No	gnomAD
rs1254293652	291	Q>H		No	TOPMed gnomAD
rs2051450215	292	E>D		No	Ensembl
rs1489325909	292	E>V		No	TOPMed
rs1363516854	293	G>E		No	gnomAD
rs1194403257	293	G>R		No	TOPMed
rs2051449812	294	A>E		No	TOPMed gnomAD
rs2051449913	294	A>T		No	Ensembl
rs2051449641	296	G>S		No	TOPMed
rs1595468532	297	G>S		No	Ensembl
rs1209358486	298	Q>R		No	gnomAD
rs563988292	299	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs781404572	300	C>S		No	ExAC TOPMed gnomAD
rs2051448564	302	E>K		No	gnomAD
rs1352717707	303	A>P		No	gnomAD
rs1352717707	303	A>S		No	gnomAD
rs1192084317	305	A>G		No	Ensembl
rs1192084317	305	A>V		No	Ensembl
rs2051448162	306	T>N		No	TOPMed
rs1179104514	308	G>R		No	TOPMed gnomAD
rs2051447922	310	A>G		No	gnomAD
rs1405092171	311	A>G		No	gnomAD
rs1300480831	311	A>P		No	TOPMed gnomAD
rs1300480831	311	A>S		No	TOPMed gnomAD
rs1300480831	311	A>T		No	TOPMed gnomAD
rs1366893186	312	A>T		No	gnomAD
rs1295969426	312	A>V		No	gnomAD
rs2051447069	313	G>A		No	gnomAD
rs780147327	313	G>C		No	ExAC TOPMed gnomAD
rs780147327	313	G>R		No	ExAC TOPMed gnomAD
rs780147327	313	G>S		No	ExAC TOPMed gnomAD
rs1384730667	314	G>C		No	TOPMed gnomAD
rs1384730667	314	G>S		No	TOPMed gnomAD
rs758874896	314	G>V		No	ExAC TOPMed gnomAD
rs545163655	315	F>L		No	1000Genomes TOPMed gnomAD
rs2051446193	317	G>D		No	TOPMed
rs1471343062	317	G>S		No	gnomAD
rs750925893	318	G>R		No	ExAC TOPMed gnomAD
rs750925893	318	G>S		No	ExAC TOPMed gnomAD
COSM6142210	319	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs765599057	320	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs2051445482	321	A>T		No	TOPMed
rs1191789653	322	C>F		No	TOPMed gnomAD
rs1191789653	322	C>S		No	TOPMed gnomAD
rs1191789653	322	C>Y		No	TOPMed gnomAD
rs1356037645	323	T>A		No	TOPMed gnomAD
rs1285379891	325	G>A		No	TOPMed gnomAD
rs2051445056	325	G>C		No	TOPMed
rs2051445056	325	G>S		No	TOPMed
TCGA novel	326	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	326	G>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2140727754	326	G>R		No	Ensembl
rs1222235550	327	G>D		No	gnomAD
rs1487620254	327	G>S		No	TOPMed gnomAD
TCGA novel	328	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1255413224	329	G>C		No	gnomAD
rs760372746	330	G>S		No	ExAC TOPMed gnomAD
rs767041837	331	Y>C		No	ExAC TOPMed gnomAD
rs774912337	331	Y>H		No	ExAC
rs2051443494	333	G>R		No	TOPMed
rs745992520	334	G>C		No	ExAC TOPMed gnomAD
rs745992520	334	G>S		No	ExAC TOPMed gnomAD
COSM961438 COSM961437 rs145538913	335	D>N	Variant assessed as Somatic; MODERATE impact. endometrium skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs140090710	336	A>S		No	ESP ExAC TOPMed gnomAD
rs140090710	336	A>T		No	ESP ExAC TOPMed gnomAD
rs2051375948	337	S>P		No	TOPMed
TCGA novel	338	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2051375810	339	T>A		No	TOPMed
rs756554872	340	D>N		No	ExAC gnomAD
rs752943456	341	N>S		No	ExAC gnomAD
rs2051375463	343	W>R		No	Ensembl
rs147526720	345	D>N		No	ESP ExAC gnomAD
rs2051375201	346	G>R		No	gnomAD
rs2051375043	348	D>G		No	Ensembl
rs2051375111	348	D>Y		No	TOPMed
rs1005012655	349	G>R		No	TOPMed gnomAD
rs887249080	349	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs765851843	350	V>I		No	ExAC gnomAD
rs1256642174	352	F>L		No	TOPMed
rs1188042113	353	I>L		No	TOPMed
rs1595465058	354	H>P		No	TOPMed
rs2051374320	354	H>Q		No	gnomAD
rs1595465058	354	H>R		No	TOPMed
rs1355214708	354	H>Y		No	TOPMed gnomAD
TCGA novel	355	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1421988396	356	S>G		No	TOPMed
COSM961434 COSM961435	356	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1330934641	356	S>T		No	gnomAD
rs144944868	357	S>N		No	ESP ExAC TOPMed gnomAD
rs765090633	358	E>K		No	ExAC gnomAD
rs1436598818	361	L>Q		No	TOPMed
rs776251722	365	A>V		No	ExAC TOPMed gnomAD
rs753716265	366	V>A		No	ExAC gnomAD
rs1486566087	367	T>S		No	TOPMed gnomAD
rs774722460	368	E>K		No	ExAC gnomAD
rs201581050	369	N>D		No	1000Genomes
rs1344977356	369	N>T		No	TOPMed gnomAD
rs141049740	371	G>*		No	ESP ExAC TOPMed gnomAD
rs141049740	371	G>R		No	ESP ExAC TOPMed gnomAD
TCGA novel	373	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM433823 COSM433824	374	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	374	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs773383557	376	R>*		No	ExAC TOPMed gnomAD
rs773383557	376	R>G		No	ExAC TOPMed gnomAD
rs150610943	376	R>P		No	ESP ExAC TOPMed gnomAD
rs150610943	376	R>Q		No	ESP ExAC TOPMed gnomAD
rs2051347601	377	R>K		No	Ensembl
rs768896852	377	R>S		No	ExAC TOPMed gnomAD
rs747305553	378	H>Q		No	ExAC TOPMed gnomAD
rs1346677262	378	H>Y		No	TOPMed gnomAD
rs779693442	380	N>S		No	ExAC TOPMed gnomAD
rs1429418883	381	C>S		No	TOPMed gnomAD
rs2051346899	382	S>G		No	TOPMed
rs969090730	382	S>N		No	Ensembl
rs376133874	383	H>Q		No	ESP ExAC TOPMed gnomAD
COSM699873 COSM699874	383	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4915057 rs55683312 COSM4915056 VAR_046106	384	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel	385	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2051346516	385	P>S		No	TOPMed gnomAD
rs1260680527	387	R>K		No	gnomAD
rs1555390878	390	Q>*		No	Ensembl
rs539878081	390	Q>H		No	1000Genomes ExAC TOPMed gnomAD
rs764028790	391	W>G		No	ExAC gnomAD
rs755878183	392	Q>*		No	ExAC gnomAD
rs755878183	392	Q>E		No	ExAC gnomAD
rs1323396321	392	Q>H		No	TOPMed gnomAD
rs570878412	393	A>V		No	1000Genomes ExAC gnomAD
rs766735721	394	E>K		No	ExAC gnomAD
rs2140713374	396	Q>H		No	Ensembl
rs1295205655	397	L>R		No	gnomAD
rs763233087	398	A>P		No	ExAC TOPMed gnomAD
rs763233087	398	A>S		No	ExAC TOPMed gnomAD
rs1363844250	399	E>K		No	gnomAD
rs773471387	400	C>S		No	ExAC TOPMed gnomAD
rs2140713302	401	L>P		No	Ensembl
rs765217937	401	L>V		No	ExAC gnomAD
rs777007224	403	P>L		No	ExAC TOPMed gnomAD
rs1338612511	403	P>S		No	gnomAD
rs1170722584	405	G>D		No	gnomAD
rs1371925401	405	G>S		No	gnomAD
rs1429871276	406	M>V		No	gnomAD
rs1595463199	409	A>P		No	Ensembl
TCGA novel	411	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	411	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs769147411	412	N>K		No	ExAC TOPMed gnomAD
rs747407502	413	V>I		No	ExAC TOPMed gnomAD
rs775802686	414	T>I		No	ExAC TOPMed gnomAD
rs775802686	414	T>N		No	ExAC TOPMed gnomAD
rs1250783726	415	C>S		No	gnomAD
rs1228470441	416	M>L		No	TOPMed gnomAD
rs917681138	416	M>R		No	TOPMed
rs1228470441	416	M>V		No	TOPMed gnomAD
rs748944262	417	D>E		No	ExAC TOPMed gnomAD
rs772421698	417	D>G		No	ExAC gnomAD
rs2051343163	417	D>Y		No	TOPMed
rs10152795	419	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1198990911	419	H>Y		No	gnomAD
rs1762557980	420	K>E		No	TOPMed gnomAD
rs1411089999	420	K>N		No	TOPMed gnomAD
rs937733178	421	P>A		No	TOPMed gnomAD
rs2051331361	421	P>H		No	TOPMed
rs937733178	421	P>S		No	TOPMed gnomAD
rs1203209550	422	P>L		No	TOPMed gnomAD
TCGA novel	422	P>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1203209550	422	P>R		No	TOPMed gnomAD
rs777304468	423	G>A		No	ExAC gnomAD
rs777304468	423	G>D		No	ExAC gnomAD
rs1349664767	423	G>S		No	gnomAD
rs769898034	424	P>L		No	ExAC gnomAD
rs769898034	424	P>R		No	ExAC gnomAD
rs1026075473	424	P>T		No	Ensembl
rs781199470	428	M>T		No	ExAC TOPMed gnomAD
rs747514717	428	M>V		No	ExAC gnomAD
TCGA novel	431	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1404998292	431	V>M		No	gnomAD
rs2051330133	432	V>A		No	Ensembl
rs754825225	434	T>A		No	ExAC gnomAD
rs75763687	435	S>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1340800929	435	S>P		No	Ensembl
rs779024993	436	T>I		No	ExAC TOPMed gnomAD
rs1159671037	437	L>V		No	TOPMed gnomAD
rs1427324097	441	M>V		No	gnomAD
rs898894346	442	V>A		No	Ensembl
rs370151127	443	C>Y		No	ESP ExAC TOPMed gnomAD
rs753916182	444	G>E		No	ExAC TOPMed gnomAD
rs2051328715	444	G>R		No	TOPMed
rs2051318977	449	V>G		No	TOPMed
rs761238318	449	V>L		No	ExAC gnomAD
rs1382028423	451	Q>E		No	gnomAD
rs369605018	451	Q>R		No	ESP TOPMed
rs2051318446 TCGA novel	452	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs766726300	454	W>*		No	ExAC gnomAD
rs2051317718	458	Q>*		No	Ensembl
rs1595461694	458	Q>R		No	Ensembl
rs1208004887	460	M>I		No	TOPMed
rs1055773938	460	M>V		No	TOPMed gnomAD
rs144738418	463	P>L		No	ESP ExAC TOPMed gnomAD
rs144738418	463	P>R		No	ESP ExAC TOPMed gnomAD
rs1406852208	463	P>S		No	gnomAD
rs771858625	464	S>I		No	ExAC gnomAD
rs771858625	464	S>N		No	ExAC gnomAD
rs745711047	465	P>A		No	ExAC TOPMed gnomAD
rs745711047	465	P>S		No	ExAC TOPMed gnomAD
rs745711047	465	P>T		No	ExAC TOPMed gnomAD
rs1236670973	468	E>A		No	TOPMed gnomAD
rs1236670973	468	E>G		No	TOPMed gnomAD
rs2051315530	470	S>C		No	TOPMed
COSM1256994 rs1162047946 COSM1256995	471	K>N	oesophagus [Cosmic]	No	cosmic curated Ensembl
rs774104261	472	L>P		No	ExAC gnomAD
rs774104261	472	L>R		No	ExAC gnomAD
COSM3501059 COSM3501058 rs770047590	473	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs141709767	473	R>P		No	ESP ExAC TOPMed gnomAD
rs141709767	473	R>Q		No	ESP ExAC TOPMed gnomAD
rs375275942	474	T>I		No	ESP TOPMed gnomAD
rs375275942	474	T>N		No	ESP TOPMed gnomAD
rs2051314753	477	I>V		No	Ensembl
rs780633645	478	R>G		No	ExAC gnomAD
rs2051314497	478	R>K		No	Ensembl
rs750857085	478	R>S		No	ExAC TOPMed gnomAD
rs933461616	479	T>A		No	TOPMed
rs765684638	479	T>I		No	ExAC gnomAD
rs765684638	479	T>R		No	ExAC gnomAD
TCGA novel	480	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1566867725	481	P>L		No	Ensembl
rs1345165634	481	P>S		No	gnomAD
rs753545312	482	N>K		No	ExAC TOPMed gnomAD
TCGA novel	482	N>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs138694693	482	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1595461468	482	N>Y		No	Ensembl
rs1158306424	483	P>L		No	TOPMed gnomAD
rs144810530	483	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs144810530	483	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2140708247	484	Y>*		No	Ensembl
rs1401167361	484	Y>C		No	gnomAD
rs1413570994	486	C>G		No	TOPMed gnomAD
rs1413570994	486	C>R		No	TOPMed gnomAD
rs1173684603	487	Q>E		No	gnomAD
TCGA novel	487	Q>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1429638688	488	V>A		No	gnomAD
rs1566867679	490	L>I		No	gnomAD
rs2051312328	490	L>R		No	TOPMed
COSM1214088 rs767532492 COSM1214089	492	P>L	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1566867645	494	Q>E		No	Ensembl
rs2051311637	495	S>F		No	Ensembl
rs770705285	496	W>*		No	ExAC gnomAD
rs770705285	496	W>C		No	ExAC gnomAD
TCGA novel	497	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1465780839	499	P>T		No	gnomAD
COSM3501057 COSM3501056	501	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781751164	503	T>A		No	Ensembl
rs781751164	503	T>P		No	Ensembl
rs779964860	504	E>K		No	1000Genomes ExAC gnomAD
rs779964860	504	E>Q		No	1000Genomes ExAC gnomAD
rs772682331	505	V>F		No	ExAC gnomAD
rs2051310512	505	V>G		No	Ensembl
COSM5609272 COSM5609271	506	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2051310435	507	P>Q		No	Ensembl
rs2051310270	508	A>D		No	gnomAD
rs1221095713	509	N>D		No	TOPMed gnomAD
rs1221095713	509	N>H		No	TOPMed gnomAD
rs746374762	509	N>S		No	ExAC TOPMed gnomAD
rs1288029519	511	T>A		No	gnomAD
rs1435504412	511	T>I		No	TOPMed gnomAD
rs1181809748	512	L>V		No	TOPMed
rs998526556	513	L>F		No	gnomAD
rs998526556	513	L>I		No	gnomAD
rs998526556	513	L>V		No	gnomAD
rs766333097	515	A>D		No	ExAC TOPMed gnomAD
rs1264615384	515	A>T		No	Ensembl
rs766333097	515	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1389242374	517	G>D		No	gnomAD
rs1314759188	517	G>S		No	gnomAD
rs762844291	518	H>L		No	ExAC TOPMed gnomAD
rs762844291	518	H>R		No	ExAC TOPMed gnomAD
rs1011299845	518	H>Y		No	TOPMed
rs140093948	519	G>D		No	ESP ExAC TOPMed gnomAD
rs140093948	519	G>V		No	ESP ExAC TOPMed gnomAD
rs2051268051	520	A>T		No	TOPMed
rs2051267962	520	A>V		No	TOPMed gnomAD
rs764927085	521	F>S		No	ExAC gnomAD
rs2051267538	522	G>E		No	TOPMed gnomAD
rs761602736	522	G>R		No	ExAC TOPMed gnomAD
rs761602736	522	G>W		No	ExAC TOPMed gnomAD
rs2051267386	524	V>A		No	Ensembl
rs2140700875	524	V>M		No	Ensembl
rs1167444051	527	G>R		No	TOPMed gnomAD
rs1417416933	527	G>V		No	gnomAD
rs767801468	528	L>P		No	ExAC TOPMed gnomAD
rs2051266884	529	V>A		No	TOPMed
rs201571079	530	I>N		No	Ensembl
rs201571079	530	I>T		No	Ensembl
rs2051266798	530	I>V		No	TOPMed
rs1484183843	531	G>D		No	TOPMed gnomAD
rs2051266454	532	L>F		No	TOPMed
rs896792316	532	L>P		No	gnomAD
rs1403940912	535	D>E		No	TOPMed gnomAD
VAR_046107 rs35932273	535	D>N		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199980818	536	S>A		No	1000Genomes gnomAD
rs774544670	536	S>F		No	ExAC TOPMed gnomAD
rs771618007	537	S>C		No	ExAC TOPMed gnomAD
rs771618007	537	S>G		No	ExAC TOPMed gnomAD
rs749749867	537	S>N		No	ExAC TOPMed gnomAD
rs199633928	538	P>A		No	ExAC TOPMed gnomAD
rs770053745	538	P>L		No	ExAC TOPMed gnomAD
rs199633928	538	P>S		No	ExAC TOPMed gnomAD
rs199633928	538	P>T		No	ExAC TOPMed gnomAD
rs2051265156	539	L>Q		No	gnomAD
COSM48512 rs144319704	541	V>I	lung [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1345782140	543	I>V		No	TOPMed gnomAD
rs2051264907	544	K>R		No	Ensembl
rs1595458749	545	T>P		No	Ensembl
rs1404691319	546	L>P		No	TOPMed gnomAD
rs1428873992	547	P>A		No	gnomAD
rs1001332360	548	E>Q		No	gnomAD
rs751839421	549	L>F		No	ExAC TOPMed gnomAD
rs1252807997	549	L>P		No	TOPMed gnomAD
rs200508070	550	C>S		No	1000Genomes ExAC TOPMed gnomAD
rs201486520	551	S>L		No	1000Genomes ExAC TOPMed gnomAD
rs201486520	551	S>W		No	1000Genomes ExAC TOPMed gnomAD
COSM1372780 COSM1372781	552	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs765701907	552	P>S		No	ExAC TOPMed gnomAD
rs1202837732	556	L>P		No	gnomAD
rs1386382455	559	L>F		No	TOPMed gnomAD
rs141718457	559	L>P		No	ESP ExAC TOPMed gnomAD
rs777037483	560	M>I		No	ExAC gnomAD
rs1037136967	560	M>T		No	Ensembl
rs2051256443	560	M>V		No	Ensembl
rs769003780	561	E>A		No	ExAC gnomAD
rs1284109728	561	E>D		No	TOPMed gnomAD
rs760972527	563	L>F		No	ExAC TOPMed
rs760972527	563	L>V		No	ExAC TOPMed
rs1327129940	564	I>M		No	gnomAD
rs941001691	564	I>T		No	gnomAD
rs1595458570	564	I>V		No	TOPMed
rs1338924184	565	I>M		No	Ensembl
rs889714847	565	I>T		No	TOPMed gnomAD
rs1371366916	566	S>G		No	gnomAD
rs1178462961	567	K>N		No	TOPMed gnomAD
rs2051246742	568	F>L		No	Ensembl
rs148513655	569	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs533130590	569	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs148513655 RCV000966335 VAR_046108	569	R>S		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs564175604	570	H>L		No	1000Genomes ExAC TOPMed gnomAD
rs1425052256	570	H>N		No	TOPMed
rs564175604	570	H>P		No	1000Genomes ExAC TOPMed gnomAD
rs564175604	570	H>R		No	1000Genomes ExAC TOPMed gnomAD
rs1192194636	573	I>L		No	gnomAD
rs1349487495	573	I>S		No	TOPMed
rs1192194636	573	I>V		No	gnomAD
rs2051245806	574	V>L		No	TOPMed
rs377126031	575	R>Q		No	ESP ExAC TOPMed gnomAD
rs762580094	575	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs776355172	576	C>S		No	ExAC gnomAD
TCGA novel	576	C>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1208078609	577	V>L		No	gnomAD
rs1279589861	578	G>E		No	gnomAD
rs768501652	578	G>R		No	ExAC TOPMed gnomAD
rs768501652	578	G>W		No	ExAC TOPMed gnomAD
rs539492594	579	L>F		No	ExAC TOPMed gnomAD
rs779227030	579	L>P		No	ExAC TOPMed gnomAD
rs1435664254	580	S>R		No	gnomAD
rs2051244555	581	L>R		No	TOPMed gnomAD
rs1300618698	583	A>T		No	gnomAD
rs777819570	583	A>V		No	ExAC gnomAD
rs1359446527	584	T>A		No	TOPMed gnomAD
rs575249157	584	T>N		No	ExAC TOPMed gnomAD
rs1684987977	585	P>L		No	gnomAD
rs202096075	586	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs202096075	586	R>G		No	ExAC TOPMed gnomAD
rs144858308	586	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2140696266	587	L>F		No	Ensembl
rs2051243562	588	I>F		No	Ensembl
rs751826581	588	I>T		No	ExAC gnomAD
rs1180253328	590	L>M		No	TOPMed gnomAD
rs1162716823	590	L>P		No	TOPMed
rs936694351	591	E>K		No	Ensembl
rs1212439939	592	L>V		No	TOPMed gnomAD
rs1326249527	593	M>T		No	gnomAD
rs1172791895	594	S>P		No	TOPMed gnomAD
COSM6077193 COSM6077192	595	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1273603241	596	G>E		No	gnomAD
rs375596775	596	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs761339863	597	D>N		No	ExAC gnomAD
rs775126856	598	M>I		No	ExAC TOPMed gnomAD
rs367724896	598	M>T		No	ESP ExAC TOPMed gnomAD
rs768438774	598	M>V		No	ExAC gnomAD
rs1283977982	600	S>G		No	TOPMed gnomAD
rs993070114	600	S>R		No	gnomAD
rs373977718	601	F>C		No	ESP ExAC TOPMed gnomAD
rs373977718	601	F>Y		No	ESP ExAC TOPMed gnomAD
rs749509925	603	R>K		No	ExAC TOPMed gnomAD
rs1430794508	603	R>S		No	gnomAD
rs749509925	603	R>T		No	ExAC TOPMed gnomAD
rs1375358807	605	S>N		No	gnomAD
rs1375358807	605	S>T		No	gnomAD
rs781234706	606	R>G		No	ExAC TOPMed gnomAD
rs141010188	606	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1188968 rs141010188 COSM1188969	606	R>Q	lung [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs781234706	606	R>W		No	ExAC TOPMed gnomAD
rs1482224549	607	P>L		No	gnomAD
rs370582280	607	P>S		No	ESP ExAC TOPMed gnomAD
rs752000156 COSM187611	608	H>Y	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs537767736	609	L>V		No	TOPMed gnomAD
rs2051231939	612	P>A		No	Ensembl
rs1041265745	612	P>L		No	TOPMed gnomAD
rs1387934294	613	S>L		No	gnomAD
rs1455723160	613	S>P		No	gnomAD
rs1224206819	614	P>L		No	TOPMed
rs1160220717	615	L>V		No	TOPMed gnomAD
rs759361902	616	V>A		No	ExAC gnomAD
rs1487178681	616	V>L		No	Ensembl
rs1309558819	617	M>T		No	gnomAD
rs149973033	618	R>G		No	ESP ExAC TOPMed gnomAD
rs139262290	618	R>P		No	ESP ExAC TOPMed gnomAD
rs139262290	618	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs149973033	618	R>W		No	ESP ExAC TOPMed gnomAD
rs2051230311	621	L>P		No	gnomAD
rs200355589	621	L>V		No	Ensembl
rs768620754	622	Q>*		No	ExAC gnomAD
rs2051229845	624	A>S		No	TOPMed gnomAD
rs2051229845	624	A>T		No	TOPMed gnomAD
rs1210023366	624	A>V		No	TOPMed gnomAD
rs2051229635	625	Q>E		No	Ensembl
rs75428074	626	D>E		No	ExAC TOPMed gnomAD
COSM4390599 COSM4390598	626	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs746284760	627	I>T		No	ExAC TOPMed gnomAD
rs201789947	627	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs2051229073	629	Q>*		No	gnomAD
rs1595457041	629	Q>R		No	Ensembl
rs757002264	630	G>A		No	ExAC gnomAD
rs757002264	630	G>D		No	ExAC gnomAD
rs1284888382	631	C>Y		No	Ensembl
rs201048749	633	Y>*		No	ExAC TOPMed gnomAD
rs944074826	634	L>R		No	TOPMed gnomAD
rs1346640138 COSM3886938 COSM3886939	636	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs368975307	637	N>H		No	ESP ExAC TOPMed gnomAD
rs1400421305	637	N>I		No	TOPMed gnomAD
rs2051227718	638	H>D		No	Ensembl
rs1045085559	639	F>L		No	gnomAD
rs1466375840	639	F>S		No	TOPMed gnomAD
rs1466375840	639	F>Y		No	TOPMed gnomAD
rs1396611007	640	I>F		No	gnomAD
rs377092265	641	H>R		No	ESP ExAC TOPMed gnomAD
rs200215271	642	R>K		No	1000Genomes ExAC TOPMed gnomAD
rs2051218244	643	D>N		No	TOPMed
rs2051218081	644	I>S		No	Ensembl
rs1277663967	644	I>V		No	Ensembl
rs2051217987	645	A>T		No	TOPMed
rs779889191	645	A>V		No	ExAC gnomAD
rs145997165	646	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142613322	647	R>Q		No	ESP ExAC TOPMed gnomAD
rs778764051	647	R>W		No	ExAC TOPMed gnomAD
rs752979534	648	N>H		No	ExAC gnomAD
rs1330514653	649	C>Y		No	gnomAD
rs1462576363	651	L>M		No	TOPMed gnomAD
rs939880962	652	S>N		No	TOPMed gnomAD
rs767797267	653	C>R		No	ExAC gnomAD
rs148048753	653	C>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs148814029	654	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM961432 rs148814029 COSM961431	654	A>T	endometrium [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs2051216155	655	G>R		No	TOPMed
rs372848485	656	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs773519252	656	P>S		No	ExAC gnomAD
rs544084547	657	S>R		No	1000Genomes ExAC gnomAD
rs1469901329	657	S>R		No	gnomAD
rs768259239	658	R>*		No	ExAC gnomAD
rs367918796	658	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs367918796	658	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1566863254	659	V>A		No	Ensembl
rs2051214911	662	I>L		No	Ensembl
rs745821566	662	I>T		No	ExAC TOPMed gnomAD
rs2051214546	663	G>E		No	TOPMed
rs757138946	663	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs781601880	664	D>N		No	ExAC gnomAD
rs1362912146	665	F>L		No	gnomAD
rs755225073	666	G>A		No	ExAC TOPMed gnomAD
rs755225073	666	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs939981250	666	G>R		No	TOPMed gnomAD
rs755225073	666	G>V		No	ExAC TOPMed gnomAD
rs2051213665	667	M>T		No	Ensembl
rs2051213759	667	M>V		No	TOPMed
rs751644680	668	A>G		No	ExAC TOPMed gnomAD
rs2051213564	668	A>T		No	TOPMed gnomAD
rs762878533 COSM48879	669	R>*	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs138393348	669	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1424848826	670	D>G		No	gnomAD
rs374062033	670	D>H		No	ESP ExAC gnomAD
rs377404643	671	I>T		No	ESP ExAC TOPMed gnomAD
rs776951417	672	Y>F		No	ExAC TOPMed gnomAD
rs1456003164	672	Y>H		No	TOPMed gnomAD
rs55876255	673	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_046109 rs55876255	673	R>Q		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201289718	673	R>W		No	ExAC TOPMed gnomAD
rs1298138653	674	A>S		No	gnomAD
rs1298138653	674	A>T		No	gnomAD
rs1462982933	675	S>G		No	gnomAD
rs1162845258	676	Y>C		No	gnomAD
rs575625623	677	Y>S		No	1000Genomes ExAC gnomAD
COSM1662650 rs747851535 COSM1662651	678	R>C	kidney [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs142798669	678	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2051204848	679	R>G		No	TOPMed gnomAD
rs2051204731	679	R>K		No	TOPMed
rs2051204731	679	R>M		No	TOPMed
rs146757784	679	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs754355804	680	G>E		No	ExAC gnomAD
rs757829209	680	G>R		No	ExAC gnomAD
rs769949765	681	D>G		No	ExAC TOPMed gnomAD
rs752969987	681	D>N		No	ExAC TOPMed gnomAD
COSM5177103 COSM5177104	681	D>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752969987	681	D>Y		No	ExAC TOPMed gnomAD
rs748131904	682	R>G		No	ExAC TOPMed gnomAD
rs141045322	682	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs141045322	682	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs748131904	682	R>W		No	ExAC TOPMed gnomAD
rs762498945	683	A>S		No	ExAC TOPMed gnomAD
rs762498945	683	A>T		No	ExAC TOPMed gnomAD
rs769581905	685	L>F		No	ExAC gnomAD
rs2051202705	686	P>L		No	TOPMed
COSM138061 rs1392324318 COSM138060	686	P>S	skin [Cosmic]	No	cosmic curated gnomAD
rs2051202526	688	K>R		No	Ensembl
rs2051202414	689	W>*		No	TOPMed
rs2051202258	690	M>K		No	Ensembl
TCGA novel	690	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2140689766	691	P>T		No	Ensembl
COSM1562945 rs1292224855 COSM1562946	692	P>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs746087075	693	E>*		No	ExAC TOPMed gnomAD
rs1395249849	693	E>A		No	gnomAD
rs1378335912	693	E>D		No	TOPMed gnomAD
rs746087075	693	E>Q		No	ExAC TOPMed gnomAD
rs2051201642	694	A>T		No	Ensembl
rs2051201375	695	F>L		No	Ensembl
rs370182079	697	E>*		No	ESP ExAC TOPMed gnomAD
rs1455887910	697	E>D		No	gnomAD
COSM699877 rs771020055 COSM699878	698	G>D	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1381785038	698	G>S		No	TOPMed gnomAD
rs1032660029	699	I>V		No	TOPMed gnomAD
rs778383630	700	F>C		No	ExAC gnomAD
rs1265195900	700	F>L		No	gnomAD
rs756553832	701	T>I		No	ExAC TOPMed gnomAD
COSM3886936 rs1254382108 COSM3886937	702	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs753160475	702	S>P		No	ExAC TOPMed gnomAD
rs753160475	702	S>T		No	ExAC TOPMed gnomAD
rs1457264962	703	K>E		No	TOPMed
rs781402616	703	K>R		No	ExAC gnomAD
rs372800939	704	T>I		No	ExAC gnomAD
rs372800939	704	T>K		No	ExAC gnomAD
rs749925163	705	D>E		No	ExAC TOPMed gnomAD
COSM961428 COSM961429 rs766085406	705	D>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs943837931	706	S>C		No	gnomAD
rs2278658	707	W>*		No	ExAC gnomAD
rs763155829	707	W>*		No	ExAC gnomAD
rs763155829	707	W>C		No	ExAC gnomAD
rs765269626	707	W>R		No	ExAC gnomAD
TCGA novel	708	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs148593397	709	F>S		No	ESP ExAC gnomAD
rs749681746	710	G>E		No	TOPMed gnomAD
rs748214720	710	G>R		No	ExAC TOPMed gnomAD
rs749681746	710	G>V		No	TOPMed gnomAD
rs2051192219	711	V>A		No	TOPMed
rs777039920	711	V>L		No	ExAC TOPMed gnomAD
rs777039920	711	V>M		No	ExAC TOPMed gnomAD
rs368310218	713	L>F		No	ESP ExAC TOPMed gnomAD
rs2051191689	714	W>*		No	TOPMed
rs1004898726	715	E>A		No	gnomAD
rs887754576	715	E>D		No	TOPMed gnomAD
rs1409346696	715	E>K		No	gnomAD
rs1381241139	716	I>V		No	Ensembl
rs745512201	717	F>L		No	ExAC TOPMed gnomAD
rs145702407	718	S>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2051191056	718	S>P		No	gnomAD
rs756749441	719	L>P		No	ExAC gnomAD
rs375669533	720	G>D		No	1000Genomes ExAC TOPMed gnomAD
rs2051190805	720	G>S		No	Ensembl
rs2051190308	722	M>I		No	Ensembl
rs1039581319	722	M>V		No	TOPMed gnomAD
rs760470398	723	P>A		No	TOPMed gnomAD
rs760470398	723	P>S		No	TOPMed gnomAD
rs200739696	724	Y>C		No	TOPMed
rs1180077199	725	P>R		No	gnomAD
rs925833492	725	P>S		No	TOPMed
rs143635378	727	R>C		No	ESP ExAC TOPMed gnomAD
rs199935291	727	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199935291	727	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199935291	727	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2051188946	729	N>I		No	gnomAD
rs1555389780	730	Q>P		No	gnomAD
rs1555389780	730	Q>R		No	gnomAD
rs1331168766	731	E>K		No	TOPMed
rs2051188440	732	V>M		No	TOPMed gnomAD
rs765463296	734	D>E		No	ExAC TOPMed gnomAD
rs776833403	736	V>I		No	ExAC TOPMed gnomAD
rs747515486	737	V>A		No	ExAC TOPMed gnomAD
rs140077464	737	V>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs140077464	737	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs924971215	738	G>E		No	TOPMed
rs142515948	741	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs370375739	741	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs746203459	743	D>A		No	ExAC TOPMed gnomAD
rs1462733684	743	D>N		No	gnomAD
rs756912054	744	P>R		No	ExAC TOPMed gnomAD
rs1198826433	744	P>T		No	TOPMed
rs55900837 VAR_046110	745	P>S		No	UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs777257887	747	G>C		No	ExAC TOPMed gnomAD
rs1379998135	747	G>V		No	TOPMed gnomAD
rs1467224586	748	C>Y		No	gnomAD
rs992340899	749	P>L		No	gnomAD
rs1199564052	750	G>E		No	gnomAD
rs2051185279	750	G>R		No	TOPMed
rs1337307035	752	V>L		No	gnomAD
rs1337307035	752	V>M		No	gnomAD
rs764364561	753	Y>C		No	ExAC gnomAD
rs139153755	754	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs139153755	754	R>G		No	ESP ExAC TOPMed gnomAD
rs752801446	754	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs139153755	754	R>S		No	ESP ExAC TOPMed gnomAD
rs2051179376	755	I>T		No	TOPMed
rs1052254517	756	M>I		No	gnomAD
rs1346576419	756	M>T		No	TOPMed gnomAD
rs1320759641	757	T>A		No	gnomAD
rs2051178933	758	Q>*		No	Ensembl
rs368134355	759	C>Y		No	ExAC TOPMed gnomAD
rs556097894	762	H>Q		No	1000Genomes ExAC TOPMed gnomAD
rs370848239	762	H>Y		No	ESP TOPMed
VAR_065465 rs76282169	763	E>K	may possibly contribute to susceptibility to systemic lupus erythematosus; increases autophosphorylation and interaction with PI3-kinase subunit p85 [UniProt]	No	UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1185980828	764	P>L		No	gnomAD
rs376706397	764	P>T		No	ESP ExAC TOPMed gnomAD
rs772878977	765	E>G		No	ExAC gnomAD
rs2051177865	766	L>F		No	Ensembl
rs373539281	767	R>C		No	ESP ExAC TOPMed gnomAD
rs369598804	767	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2051177448	768	P>L		No	Ensembl
COSM293953 COSM293954	771	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1212885930	772	S>R		No	gnomAD
rs780744214	773	I>T		No	ExAC gnomAD
COSM961425 COSM961426 rs150790185	776	R>C	endometrium [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs375277507	776	R>H		No	ESP ExAC TOPMed gnomAD
rs375277507	776	R>P		No	ESP ExAC TOPMed gnomAD
rs1363722819	777	L>P		No	gnomAD
rs1413345009	778	Q>R		No	TOPMed gnomAD
rs1313831508	779	Y>D		No	gnomAD
rs778188292	780	C>R		No	ExAC gnomAD
rs756389477	780	C>Y		No	ExAC TOPMed gnomAD
rs1595453649	783	D>A		No	Ensembl
rs758895863	784	P>L		No	ExAC TOPMed gnomAD
TCGA novel	785	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs891030310	785	D>N		No	Ensembl
rs945947205	785	D>V		No	TOPMed gnomAD
rs762109337	787	L>P		No	ExAC TOPMed gnomAD
rs762109337	787	L>R		No	ExAC TOPMed gnomAD
rs1395503080	788	N>S		No	gnomAD
rs1273213918	790	L>F		No	TOPMed gnomAD
rs763616323	790	L>P		No	ExAC
rs2051169760	791	L>V		No	TOPMed gnomAD
rs760274070	792	P>A		No	ExAC gnomAD
rs760274070	792	P>S		No	ExAC gnomAD
rs774848671	793	M>V		No	ExAC TOPMed gnomAD
rs1363046973	794	E>V		No	TOPMed gnomAD
rs1441530717	797	P>A		No	TOPMed gnomAD
rs1441530717	797	P>T		No	TOPMed gnomAD
rs2051169083	798	T>A		No	gnomAD
rs1376900166	798	T>I		No	TOPMed gnomAD
rs2051169083	798	T>S		No	gnomAD
rs1192468574	799	P>A		No	gnomAD
COSM3816010 COSM3816009	799	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2051168582	799	P>Q		No	Ensembl
rs1192468574	799	P>T		No	gnomAD
rs1468491016	804	T>S		No	gnomAD
rs947736859	806	G>E		No	TOPMed gnomAD
rs367898414	806	G>R		No	ESP ExAC TOPMed gnomAD
rs947736859	806	G>V		No	TOPMed gnomAD
rs770868232	807	L>M		No	ExAC gnomAD
rs2051167406	810	R>K		No	Ensembl
rs748994487	811	S>P		No	ExAC gnomAD
COSM961423 COSM961422	811	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	812	L>W	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
RCV000972175 rs148281714	813	E>*		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148281714	813	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1356554581	814	C>S		No	gnomAD
rs2140684699	814	C>Y		No	Ensembl
rs1233681930	815	L>R		No	gnomAD
rs1301796349	815	L>V		No	TOPMed gnomAD
RCV000761904 rs1566860960	816	R>T		No	ClinVar Ensembl dbSNP
rs768741283	817	P>S		No	ExAC TOPMed gnomAD
rs939633141	818	P>S		No	Ensembl
rs2051166131	819	Q>*		No	Ensembl
rs2051166131	819	Q>E		No	Ensembl
rs372296391	819	Q>R		No	ESP TOPMed gnomAD
rs1380788604	819	Q>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM3501051 COSM3501050 rs2051165742	821	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs1433380083	821	Q>L		No	TOPMed gnomAD
rs1433380083	821	Q>R		No	TOPMed gnomAD
rs750941736	822	E>*		No	ExAC gnomAD
rs779344025	822	E>V		No	ExAC gnomAD
rs757651599	824	S>R		No	ExAC gnomAD
rs2051165237	824	S>T		No	TOPMed
COSM1135650 rs2051165071 COSM1135649	825	P>L	kidney [Cosmic]	No	cosmic curated Ensembl
COSM3816007 COSM3816008	826	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754121765	826	E>K		No	ExAC gnomAD
rs754121765	826	E>Q		No	ExAC gnomAD
rs2051164862	827	K>R		No	Ensembl
rs2051164563	828	L>S		No	TOPMed
rs199957230	830	S>N		No	1000Genomes ExAC TOPMed gnomAD
COSM117361 rs1489444214	831	W>C	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs2051164213	832	G>V		No	Ensembl
rs2051164123	833	G>S		No	TOPMed
rs2051163951	834	S>R		No	TOPMed
TCGA novel	835	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs941573166	836	L>R		No	TOPMed gnomAD
TCGA novel	837	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767149415	837	G>C		No	ExAC gnomAD
rs1349198983	837	G>V		No	gnomAD
rs910039603	838	P>L		No	TOPMed gnomAD
rs910039603	838	P>R		No	TOPMed gnomAD
rs56367146 VAR_046111	838	P>S		No	UniProt TOPMed dbSNP
rs56367146	838	P>T		No	TOPMed
rs759063156	839	W>*		No	ExAC gnomAD
rs1296488365	843	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM554839 rs1420605670 COSM6077194 COSM554840 COSM6077195	846	P>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed
rs200704162	847	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs200704162	847	L>I		No	1000Genomes ExAC TOPMed gnomAD
rs2140684095	848	K>E		No	Ensembl
rs1337969951	850	R>G		No	TOPMed gnomAD
rs747204147	850	R>S		No	ExAC TOPMed gnomAD
rs951621589	851	G>A		No	TOPMed gnomAD
rs1165723387	851	G>S		No	gnomAD
rs561901675	852	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs2051161800	852	L>P		No	TOPMed
rs772162306	853	Q>*		No	ExAC TOPMed gnomAD
rs772162306	853	Q>E		No	ExAC TOPMed gnomAD
rs143467076	853	Q>H		No	ESP ExAC TOPMed gnomAD
rs1474002400	854	P>S		No	TOPMed gnomAD
rs1474002400	854	P>T		No	TOPMed gnomAD
rs2051160991 TCGA novel	855	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1952474479	855	Q>R		No	Ensembl
rs2051160801	857	L>F		No	TOPMed gnomAD
rs1566860605	858	W>*		No	Ensembl
rs1255907068	858	W>R		No	gnomAD
rs1187656910	859	N>I		No	gnomAD
rs1378089524	860	P>R		No	TOPMed gnomAD
COSM3501049 COSM3501048	860	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2051160324	861	T>A		No	Ensembl
rs1169215595	861	T>I		No	gnomAD
rs542041373	862	Y>*		No	1000Genomes ExAC TOPMed gnomAD
rs761960490	863	R>C		No	ExAC gnomAD
rs761960490	863	R>G		No	ExAC gnomAD
rs754293000	863	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD

1 associated diseases with P29376

Without disease ID

18 regional properties for P29376

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	478 - 767	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	479 - 754	IPR001245
domain	Immunoglobulin subtype 2	46 - 108	IPR003598-1
domain	Immunoglobulin subtype 2	169 - 237	IPR003598-2
domain	Immunoglobulin subtype 2	268 - 348	IPR003598-3
domain	Immunoglobulin subtype	40 - 119	IPR003599-1
domain	Immunoglobulin subtype	163 - 248	IPR003599-2
domain	Immunoglobulin subtype	262 - 359	IPR003599-3
domain	Immunoglobulin-like domain	25 - 119	IPR007110-1
domain	Immunoglobulin-like domain	158 - 246	IPR007110-2
domain	Immunoglobulin-like domain	255 - 357	IPR007110-3
active_site	Tyrosine-protein kinase, active site	619 - 631	IPR008266
domain	Immunoglobulin I-set	169 - 247	IPR013098-1
domain	Immunoglobulin I-set	262 - 358	IPR013098-2
domain	Immunoglobulin	43 - 115	IPR013151
binding_site	Protein kinase, ATP binding site	484 - 514	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	478 - 754	IPR020635
domain	Fibroblast growth factor receptor 1, catalytic domain	464 - 765	IPR028174

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction
protein tyrosine kinase activity	Catalysis of the reaction
receptor signaling protein tyrosine kinase activator activity	Binds to and increases the activity of a receptor signaling protein tyrosine kinase.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction

12 GO annotations of biological process

Name	Definition
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cellular response to retinoic acid	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
peptidyl-tyrosine autophosphorylation	The phosphorylation by a protein of one or more of its own tyrosine amino acid residues, or a tyrosine residue on an identical protein.
positive regulation of cardiac muscle cell apoptotic process	Any process that increases the rate or extent of cardiac cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a cardiac muscle cell and result in its death.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of neuron differentiation	Any process that modulates the frequency, rate or extent of neuron differentiation.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

54 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q769I5	MET	Hepatocyte growth factor receptor	Bos taurus (Bovine)	PR
A0M8S8	MET	Hepatocyte growth factor receptor	Felis catus (Cat) (Felis silvestris catus)	PR
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
Q9WTL4	Insrr	Insulin receptor-related protein	Mus musculus (Mouse)	SS
Q62190	Mst1r	Macrophage-stimulating protein receptor	Mus musculus (Mouse)	SS
P97793	Alk	ALK tyrosine kinase receptor	Mus musculus (Mouse)	SS
P16056	Met	Hepatocyte growth factor receptor	Mus musculus (Mouse)	PR
P97523	Met	Hepatocyte growth factor receptor	Rattus norvegicus (Rat)	PR
Q64716	Insrr	Insulin receptor-related protein	Rattus norvegicus (Rat)	SS
Q8I7I5	rol-3	Protein roller-3	Caenorhabditis elegans	PR
Q19238	F09A5.2	Putative tyrosine-protein kinase F09A5.2	Caenorhabditis elegans	SS
H2KZU7	svh-2	Tyrosine-protein kinase receptor svh-2	Caenorhabditis elegans	SS
F8W3R9	alk	ALK tyrosine kinase receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
F1QVU0	ltk	Tyrosine-protein kinase receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MGCWGQLLVW	FGAAGAILCS	SPGSQETFLR	SSPLPLASPS	PRDPKVSAPP	SILEPASPLN
70	80	90	100	110	120
SPGTEGSWLF	STCGASGRHG	PTQTQCDGAY	AGTSVVVTVG	AAGQLRGVQL	WRVPGPGQYL
130	140	150	160	170	180
ISAYGAAGGK	GAKNHLSRAH	GVFVSAIFSL	GLGESLYILV	GQQGEDACPG	GSPESQLVCL
190	200	210	220	230	240
GESRAVEEHA	AMDGSEGVPG	SRRWAGGGGG	GGGATYVFRV	RAGELEPLLV	AAGGGGRAYL
250	260	270	280	290	300
RPRDRGRTQA	SPEKLENRSE	APGSGGRGGA	AGGGGGWTSR	APSPQAGRSL	QEGAEGGQGC
310	320	330	340	350	360
SEAWATLGWA	AAGGFGGGGG	ACTAGGGGGG	YRGGDASETD	NLWADGEDGV	SFIHPSSELF
370	380	390	400	410	420
LQPLAVTENH	GEVEIRRHLN	CSHCPLRDCQ	WQAELQLAEC	LCPEGMELAV	DNVTCMDLHK
430	440	450	460	470	480
PPGPLVLMVA	VVATSTLSLL	MVCGVLILVK	QKKWQGLQEM	RLPSPELELS	KLRTSAIRTA
490	500	510	520	530	540
PNPYYCQVGL	GPAQSWPLPP	GVTEVSPANV	TLLRALGHGA	FGEVYEGLVI	GLPGDSSPLQ
550	560	570	580	590	600
VAIKTLPELC	SPQDELDFLM	EALIISKFRH	QNIVRCVGLS	LRATPRLILL	ELMSGGDMKS
610	620	630	640	650	660
FLRHSRPHLG	QPSPLVMRDL	LQLAQDIAQG	CHYLEENHFI	HRDIAARNCL	LSCAGPSRVA
670	680	690	700	710	720
KIGDFGMARD	IYRASYYRRG	DRALLPVKWM	PPEAFLEGIF	TSKTDSWSFG	VLLWEIFSLG
730	740	750	760	770	780
YMPYPGRTNQ	EVLDFVVGGG	RMDPPRGCPG	PVYRIMTQCW	QHEPELRPSF	ASILERLQYC
790	800	810	820	830	840
TQDPDVLNSL	LPMELGPTPE	EEGTSGLGNR	SLECLRPPQP	QELSPEKLKS	WGGSPLGPWL
850	860
SSGLKPLKSR	GLQPQNLWNP	TYRS