AiPD: Autoinhibited Protein Database

P35916

Gene name	FLT4 (VEGFR3)
Protein name	Vascular endothelial growth factor receptor 3
Names	FL cytokine receptor, Fetal liver kinase-2, FLK-2, Fms-like tyrosine kinase 3, FLT-3, Stem cell tyrosine kinase 1, STK-1, VEGFR-3, Fms-like tyrosine kinase 4, FLT-4, Tyrosine-protein kinase receptor FLT4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2324
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

FLT4 is a tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic development. The conserved juxtamembrane region (between the transmembrane helix and the cytoplasmic kinase domain) negatively regulates catalytic activity in various receptor tyrosine kinases, and this autoinhibition is relieved through ligand-stimulated Tyr phosphorylation. The conserved juxtamembrane region may autoinhibit the kinase domain of FLT4 as well.

Autoinhibitory domains (AIDs)

799-839 (Juxtamembrane domain) SS

Target domain	845-1173 (Protein kinase domain)
Relief mechanism	PTM, Ligand binding
Assay

AID

799-839 (Juxtamembrane domain)

Target domain

845-1173 (Protein kinase domain)

Relief mechanism

PTM (Transphosphorylation of tyrosine residues on JM domain), Ligand binding (Cytokine FLT3LG binding leading to dimerization of the receptor and autophosphorylation)

Assay

Accessory elements

1054-1079 (Activation loop from InterPro)

Target domain	845-1173 (Protein kinase domain)
Relief mechanism
Assay

References

Roskoski R Jr (2008) "VEGF receptor protein-tyrosine kinases: structure and regulation", Biochemical and biophysical research communications, 375, 287-91

Wang X et al. (2020) "Molecular Bases of VEGFR-2-Mediated Physiological Function and Pathological Role", Frontiers in cell and developmental biology, 8, 599281

Shewchuk LM et al. (2000) "Structure of the Tie2 RTK domain: self-inhibition by the nucleotide binding loop, activation loop, and C-terminal tail", Structure (London, England : 1993), 8, 1105-13

Stuttfeld E et al. (2009) "Structure and function of VEGF receptors", IUBMB life, 61, 915-22

Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71

Griffith J et al. (2004) "The structural basis for autoinhibition of FLT3 by the juxtamembrane domain", Molecular cell, 13, 169-78

Reindl C et al. (2006) "From kinases to cancer: leakiness, loss of autoinhibition and leukemia", Cell cycle (Georgetown, Tex.), 5, 599-602

Jiang J et al. (2004) "Identifying and characterizing a novel activating mutation of the FLT3 tyrosine kinase in AML", Blood, 104, 1855-8

Chiara F et al. (2004) "Autoinhibition of the platelet-derived growth factor beta-receptor tyrosine kinase by its C-terminal tail", The Journal of biological chemistry, 279, 19732-8

Mol CD et al. (2004) "Structural basis for the autoinhibition and STI-571 inhibition of c-Kit tyrosine kinase", The Journal of biological chemistry, 279, 31655-63

Zhang X et al. (2006) "An allosteric mechanism for activation of the kinase domain of epidermal growth factor receptor", Cell, 125, 1137-49

Ferguson KM et al. (2003) "EGF activates its receptor by removing interactions that autoinhibit ectodomain dimerization", Molecular cell, 11, 507-17

Whitson KB et al. (2005) "Functional effects of glycosylation at Asn-579 of the epidermal growth factor receptor", Biochemistry, 44, 14920-31

Contessa JN et al. (2008) "Inhibition of N-linked glycosylation disrupts receptor tyrosine kinase signaling in tumor cells", Cancer research, 68, 3803-9

Yokoyama N et al. (2005) "The C terminus of RON tyrosine kinase plays an autoinhibitory role", The Journal of biological chemistry, 280, 8893-900

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

Lew ED et al. (2007) "Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation", Proceedings of the National Academy of Sciences of the United States of America, 104, 19802-7

Kalinina J et al. (2012) "The alternatively spliced acid box region plays a key role in FGF receptor autoinhibition", Structure (London, England : 1993), 20, 77-88

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,

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

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

Arevalo JC et al. (2000) "TrkA immunoglobulin-like ligand binding domains inhibit spontaneous activation of the receptor", Molecular and cellular biology, 20, 5908-16

Artim SC et al. (2012) "Assessing the range of kinase autoinhibition mechanisms in the insulin receptor family", The Biochemical journal, 448, 213-20

Shen J et al. (2019) "Extracellular Juxtamembrane Motif Critical for TrkB Preformed Dimer and Activation", Cells, 8,

Sammon D et al. (2020) "Two-step release of kinase autoinhibition in discoidin domain receptor 1", Proceedings of the National Academy of Sciences of the United States of America, 117, 22051-22060

Fu HL et al. (2014) "Glycosylation at Asn211 regulates the activation state of the discoidin domain receptor 1 (DDR1)", The Journal of biological chemistry, 289, 9275-87

Knowles PP et al. (2006) "Structure and chemical inhibition of the RET tyrosine kinase domain", The Journal of biological chemistry, 281, 33577-87

Autoinhibited structure

Activated structure

3 structures for P35916

Entry ID	Method	Resolution	Chain	Position	Source
4BSJ	X-ray	250 A	A	330-553	PDB
4BSK	X-ray	420 A	A	23-229	PDB
AF-P35916-F1	Predicted				AlphaFoldDB

1040 variants for P35916

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs755445139 RCV001003427 RCV001585912	30	P>missing	Congenital heart defects, multiple types, 7 [ClinVar]	Yes	ClinVar dbSNP
rs1581655293 RCV001003430	542	Q>missing	Congenital heart defects, multiple types, 7 [ClinVar]	Yes	ClinVar dbSNP
RCV000987647 CA133214528 rs746659265	702	A>S	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000186540 CA251288 rs796052106	805	H>P	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs796052104 CA251284 RCV000186538	824	L>M	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000186536 CA251280 rs796052102	833	Y>S	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA251278 RCV000186535 rs796052101	834	D>E	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA251276 rs796052100 RCV000186534	836	S>N	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000186533 rs796052099	840	F>missing	Carcinoma of colon [ClinVar]	Yes	ClinVar dbSNP
VAR_074044 rs121909657 RCV000017657 CA257476	855	A>T	LMPHM1; recessive form; results in reduced autophosphorylation; results in impaired ligand-induced receptor internalization and downstream signaling Hereditary lymphedema type I [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000017647 VAR_018409 CA257464 rs267606818	857	G>R	LMPHM1; loss of kinase activity Hereditary lymphedema type I [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA257468 VAR_074045 rs121909654 RCV000017653	878	V>M	Hereditary lymphedema type I LMPHM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000251871 CA3606153 rs448012 RCV001660381 RCV001701923 VAR_018410 RCV001701830	890	H>Q	Hereditary lymphedema type I Congenital heart defects, multiple types, 7 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34255532 VAR_018411 CA126343	954	P>S	HCI [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000186548 rs796052113	1019	F>missing	Carcinoma of colon [ClinVar]	Yes	ClinVar dbSNP
rs796052112 RCV000186547	1022	A>missing	Carcinoma of colon [ClinVar]	Yes	ClinVar dbSNP
RCV000186546 CA251295 rs56364366	1022	A>V	Carcinoma of colon [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000186545 rs796052111	1025	M>missing	Carcinoma of colon [ClinVar]	Yes	ClinVar dbSNP
rs796052110 RCV000186544	1026	E>missing	Carcinoma of colon [ClinVar]	Yes	ClinVar dbSNP
VAR_018412 rs121909653 RCV000017651 CA126342	1035	H>R	LMPHM1; loss of kinase activity Hereditary lymphedema type I [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_018413 RCV000017648 CA257465 rs121909650	1041	R>P	LMPHM1; loss of kinase activity Hereditary lymphedema type I [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA362500582 COSM1252592 rs1451816005 RCV000853321 COSM1252593	1041	R>W	Hereditary lymphedema type I oesophagus [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV000017649 VAR_018414 CA257466 rs121909651	1044	L>P	LMPHM1; loss of kinase activity Hereditary lymphedema type I [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001196028 rs1762428823	1083	P>S	Hereditary lymphedema type I [ClinVar]	Yes	ClinVar dbSNP
CA257470 rs121909655 VAR_074048 RCV000017654	1086	I>T	Hereditary lymphedema type I LMPHM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000017655 rs121909656 VAR_074049 CA257472	1106	E>K	Hereditary lymphedema type I LMPHM1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000017656 rs587776833	1108	F>missing	Hereditary lymphedema type I [ClinVar]	Yes	ClinVar dbSNP
CA257467 COSM4155790 VAR_018415 RCV000017650 COSM4155791 rs121909652	1114	P>L	LMPHM1; loss of kinase activity kidney Hereditary lymphedema type I [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA362499967 rs1554109707 RCV000622754	1131	G>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001199191 rs1762335528	1137	P>L	Hereditary lymphedema type I [ClinVar]	Yes	ClinVar dbSNP
rs1581616817 CA362499138 RCV001003429	1192	Q>*	Congenital heart defects, multiple types, 7 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1189576922 CA362498921 RCV001196316	1204	T>A	Hereditary lymphedema type I [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001331922 rs1761973773	1274	D>V	Hereditary lymphedema type I [ClinVar]	Yes	ClinVar dbSNP
CA362512329 rs1254608660	3	R>L		No	ClinGen gnomAD
rs748586738 CA3607263	3	R>W		No	ClinGen ExAC TOPMed gnomAD
rs999429850 CA133249971	4	G>A		No	ClinGen TOPMed gnomAD
rs999429850 CA362512316	4	G>D		No	ClinGen TOPMed gnomAD
rs1319020152 CA362512307	5	A>G		No	ClinGen TOPMed gnomAD
rs566280015 CA133249962	5	A>S		No	ClinGen 1000Genomes
CA362512306 rs1319020152	5	A>V		No	ClinGen TOPMed gnomAD
CA362512304 rs1356792862	6	A>T		No	ClinGen TOPMed
CA362512251 rs1217000045	10	R>*		No	ClinGen gnomAD
CA3607261 rs758148540	10	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA362512174 rs1454894534	15	L>P		No	ClinGen TOPMed
rs1295749545 CA362512159	16	G>V		No	ClinGen TOPMed
rs1364723390 CA362512135	18	L>P		No	ClinGen TOPMed
rs749884420 CA3607260	20	G>C		No	ClinGen ExAC TOPMed gnomAD
rs749884420 CA362512115	20	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1276293030 CA362507462	21	L>M		No	ClinGen gnomAD
rs892416632 CA133229671	23	S>N		No	ClinGen Ensembl
CA362507444 rs1171319567	24	G>S		No	ClinGen TOPMed
rs200967921 CA3607243	25	Y>*		No	ClinGen ExAC gnomAD
CA3607242 rs113995355 RCV001701334 RCV000871998	26	S>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756688098 CA3607239	26	S>F		No	ClinGen ExAC gnomAD
rs113995355 CA3607240	26	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113995355 CA3607241	26	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763886684 CA3607237	27	M>L		No	ClinGen ExAC
CA3607236 rs756087973	28	T>N		No	ClinGen ExAC TOPMed
rs1581683730 CA362507421	28	T>P		No	ClinGen Ensembl
CA133229556 rs933879138	29	P>S		No	ClinGen Ensembl
rs1039930088 CA133229547	34	I>V		No	ClinGen Ensembl
rs751762446 CA3607231	35	T>M		No	ClinGen ExAC TOPMed gnomAD
CA362507365 rs1268376969	37	E>K		No	ClinGen gnomAD
CA362507346 rs1489305259	39	H>L		No	ClinGen gnomAD
rs1194560241 CA362507351	39	H>N		No	ClinGen gnomAD
rs770143594 CA3607227	40	V>I		No	ClinGen ExAC TOPMed gnomAD
rs777334601 CA3607225	42	D>N		No	ClinGen ExAC gnomAD
rs769119787 CA3607224	43	T>N		No	ClinGen ExAC TOPMed gnomAD
rs769119787 CA362507321	43	T>S		No	ClinGen ExAC TOPMed gnomAD
rs918215332 CA362507319	44	G>R		No	ClinGen TOPMed
CA133229480 rs918215332	44	G>S		No	ClinGen TOPMed
CA3607222 rs778664411	46	S>N		No	ClinGen ExAC TOPMed gnomAD
CA3607199 rs747701670	52	R>S		No	ClinGen ExAC TOPMed gnomAD
CA362507238 rs1244464459	54	Q>H		No	ClinGen gnomAD
CA362507233 rs1581679865	55	H>P		No	ClinGen Ensembl
CA362507229 rs781067773	55	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs754931643 CA3607197	56	P>L		No	ClinGen ExAC gnomAD
rs1458516455 CA362507212	58	E>D		No	ClinGen gnomAD
CA3607193 rs148126951	58	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs148126951 CA3607194	58	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3607192 rs765417203	63	G>R		No	ClinGen ExAC gnomAD
CA362507171 rs1174986122	64	A>V		No	ClinGen gnomAD
CA3607190 rs757054474	67	A>V		No	ClinGen ExAC gnomAD
CA362507145 rs1437584492	68	P>L		No	ClinGen TOPMed gnomAD
rs761266143 CA3607188	68	P>S		No	ClinGen ExAC gnomAD
CA362507144 rs1210033797	69	A>T		No	ClinGen TOPMed gnomAD
CA3607187 rs574248675	69	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3607185 rs369300300	70	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3607182 COSM232355 RCV000872731 COSM232356 rs138831198	71	G>R	skin [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs376505125 CA3607181	73	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340899798 CA362507114	74	D>N		No	ClinGen TOPMed
rs202015753 CA3607179	76	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200878617 CA3607178	78	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3607175 rs200071734	80	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3607176 rs200071734	80	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3607173 rs578179579	82	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3607170 rs202063909	85	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3607171 rs202063909	85	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1434560734 CA362507034	86	G>C		No	ClinGen gnomAD
COSM1066841 rs767952525 CA3607169 COSM1066840	89	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3607168 rs759909949	92	Y>H		No	ClinGen ExAC gnomAD
CA3607166 rs764813513	94	K>E		No	ClinGen ExAC gnomAD
CA3607165 rs534976776	94	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776335068 CA3607164	95	V>M		No	ClinGen ExAC TOPMed gnomAD
rs768130578 CA3607163	97	L>V		No	ClinGen ExAC TOPMed gnomAD
CA362506956 rs1401667390	99	H>N		No	ClinGen TOPMed
CA3607161 rs775457696	100	E>K		No	ClinGen ExAC TOPMed gnomAD
CA362506937 rs1330216305	101	V>A		No	ClinGen TOPMed
rs1330216305 CA362506938	101	V>E		No	ClinGen TOPMed
rs1330216305 CA362506936	101	V>G		No	ClinGen TOPMed
CA3607159 rs138227972	102	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA133227764 rs994940584	102	H>Y		No	ClinGen TOPMed
CA362506925 rs1300071664	103	A>G		No	ClinGen gnomAD
CA362506920 rs1384082412	104	N>T		No	ClinGen gnomAD
CA133227713 rs150416750	105	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1207272 rs150416750 CA3607156 COSM1207273	105	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1175230063 CA362506892	108	S>T		No	ClinGen gnomAD
CA362506880 rs756234174	110	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3607154 rs756234174	110	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1031320193 COSM1672189 COSM1672190 CA133227658	111	C>R	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1190339297 CA362506849	114	K>R		No	ClinGen gnomAD
CA3607151 rs755455041	117	K>E		No	ClinGen ExAC gnomAD
rs1267101992 CA362506815	119	R>C		No	ClinGen TOPMed
COSM1471828 CA3607150 COSM1471827 rs751885535	119	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA133227538 rs369887752	121	E>D		No	ClinGen ESP TOPMed gnomAD
CA3607148 rs371804364	121	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362506796 rs1225245861	122	G>D		No	ClinGen gnomAD
CA3607146 rs760182219	126	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3607145 rs760182219	126	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1335798652 CA362506765	127	S>R		No	ClinGen TOPMed gnomAD
CA133227514 rs866678855	128	S>P		No	ClinGen Ensembl
CA3607143 rs771975253	130	V>L		No	ClinGen ExAC gnomAD
CA362506750 rs771975253	130	V>M		No	ClinGen ExAC gnomAD
rs1554115894 RCV000509019 CA362506741	131	F>S		No	ClinGen ClinVar Ensembl dbSNP
CA362506737 rs1374141592	132	V>M		No	ClinGen TOPMed
rs1373068555 CA362506722	134	D>Y		No	ClinGen gnomAD
CA3607114 rs758916231	137	Q>E		No	ClinGen ExAC gnomAD
rs746160997 CA3607113	140	I>V		No	ClinGen ExAC gnomAD
CA3607111 rs140347743	145	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs894392151 CA133227203	146	L>F		No	ClinGen Ensembl
RCV000243363 VAR_042062 CA3607107 RCV001618489 rs34221241	149	N>D		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs56021289 CA133227190	150	R>K		No	ClinGen Ensembl
CA362506594 rs1201771055	151	K>E		No	ClinGen gnomAD
rs142252978 CA3607105	153	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001290594 rs147634448 CA3607103	159	L>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs556048251 CA3607101	162	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3607098 rs775547530	164	G>S		No	ClinGen ExAC TOPMed gnomAD
rs377604193 CA3607097	166	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3607095 COSM3393501 COSM3393502 rs148392893	168	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM1567744 CA362506480 COSM1567743 rs148392893	168	T>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs780661773 CA3607092	170	R>C		No	ClinGen ExAC gnomAD
rs754692331 CA3607091	170	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3607090 rs56258152	171	S>L		No	ClinGen ExAC gnomAD
COSM1293141 rs773696166 CA3607063 COSM1293142	174	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA362506428 rs1444417967	175	V>A		No	ClinGen TOPMed
rs1281233668 CA362506406	179	D>N		No	ClinGen TOPMed
rs139378654 CA133226822	180	G>R		No	ClinGen ESP
rs1581677112 CA362506372	183	V>G		No	ClinGen Ensembl
rs1581677100 CA362506366	184	V>G		No	ClinGen Ensembl
rs1581677062 CA362506343	187	D>V		No	ClinGen Ensembl
rs142274156 CA3607054	188	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3607055 rs372854098	188	R>W		No	ClinGen ESP ExAC gnomAD
CA3607053 rs369974304	189	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472753430 CA362506322	191	M>I		No	ClinGen TOPMed
CA133226740 rs112261604	191	M>V		No	ClinGen Ensembl
CA3607049 rs778477946	193	V>L		No	ClinGen ExAC gnomAD
CA362506308 rs1561738578	194	S>T		No	ClinGen Ensembl
rs753792784 CA3607047	195	T>M		No	ClinGen ExAC gnomAD
rs1050137501 CA133226668	196	P>A		No	ClinGen Ensembl
CA3607045 rs755861439	199	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA133226666 rs998524581	199	H>Y		No	ClinGen TOPMed gnomAD
rs752512978 CA3607044	200	D>N		No	ClinGen ExAC gnomAD
rs767670443 CA3607043	201	A>T		No	ClinGen ExAC gnomAD
CA3607041 rs201659972	204	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762995809 CA3607039	207	E>K		No	ClinGen ExAC gnomAD
rs142768219 CA362506214	209	T>I		No	ClinGen ESP TOPMed gnomAD
CA133226577 rs142768219	209	T>S		No	ClinGen ESP TOPMed gnomAD
rs1293768367 CA362506204	211	G>R		No	ClinGen TOPMed
CA362506179 rs1216530336	214	D>A		No	ClinGen TOPMed
rs1297682245 CA362506181	214	D>H		No	ClinGen gnomAD
rs1297682245 CA362506182	214	D>N		No	ClinGen gnomAD
rs1277210047 CA362506162	216	L>P		No	ClinGen TOPMed
rs1055761494 CA133226544	222	V>M		No	ClinGen TOPMed
CA362506113 rs1345233435	224	I>V		No	ClinGen TOPMed gnomAD
rs1490330207 CA362506085	226	G>D		No	ClinGen gnomAD
CA3607006 rs373825239	227	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781159322 CA3607004	228	E>K		No	ClinGen ExAC TOPMed gnomAD
CA133226360 rs1041590276	231	D>G		No	ClinGen Ensembl
CA3607002 rs746813798	232	I>V		No	ClinGen ExAC gnomAD
rs1281473661 CA362506017	236	P>L		No	ClinGen gnomAD
CA3607000 rs758550504	237	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1375407224 CA362505972	244	V>I		No	ClinGen TOPMed
CA362505939 rs1337090715	249	V>I		No	ClinGen gnomAD
CA3606993 rs368909190	254	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA133226248 rs141059697	256	A>S		No	ClinGen Ensembl
rs1451197867 CA362505879	258	F>L		No	ClinGen gnomAD
rs1195920577 CA362505855	261	G>D		No	ClinGen gnomAD
rs1247822101 CA362505847	262	V>G		No	ClinGen gnomAD
COSM1436701 rs1427222919 CA362505852 COSM1436702	262	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs765990308 CA3606992	263	T>I		No	ClinGen ExAC gnomAD
rs1581675882 CA362505844	263	T>P		No	ClinGen Ensembl
rs1581675852 CA362505815	267	D>H		No	ClinGen Ensembl
CA3606968 rs546055152	274	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1430092421 CA362505747	275	R>G		No	ClinGen gnomAD
CA3606967 rs372030421	275	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA362505740 rs1164739687	276	G>V		No	ClinGen gnomAD
CA362505716 rs1383004067	279	V>A		No	ClinGen TOPMed
rs1427064114 CA362505720	279	V>M		No	ClinGen gnomAD
CA362505711 rs1383801975	280	P>H		No	ClinGen gnomAD
CA3606965 rs149373386	281	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368167894 CA3606964	283	R>C		No	ClinGen ESP ExAC gnomAD
rs148616009 CA3606963	283	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362505686 rs1279584243	285	Q>K		No	ClinGen TOPMed
rs1168945372 CA362505681	285	Q>R		No	ClinGen TOPMed gnomAD
rs962701658 CA133225779	291	L>F		No	ClinGen TOPMed
rs777711878 CA3606961	292	S>F		No	ClinGen ExAC gnomAD
rs1288895731 CA362505612	296	T>P		No	ClinGen gnomAD
rs1288895731 CA362505610	296	T>S		No	ClinGen gnomAD
rs1224066555 CA362505595	298	H>R		No	ClinGen gnomAD
CA3606960 rs138606846	299	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3606958 rs186187161	300	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1263338527 CA362505571	302	Q>K		No	ClinGen TOPMed
CA362505557 rs540014376	303	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751948166 CA3606956	304	D>N		No	ClinGen ExAC TOPMed gnomAD
CA362505537 rs1437108067	307	S>A		No	ClinGen TOPMed
CA3606954 rs756911426	307	S>L		No	ClinGen ExAC TOPMed gnomAD
rs763486891 CA3606952	309	V>A		No	ClinGen ExAC gnomAD
rs760268018 CA3606951	312	A>G		No	ClinGen ExAC gnomAD
rs1410496136 CA362505487	314	N>S		No	ClinGen gnomAD
CA362505482 rs1472365443	315	G>S		No	ClinGen gnomAD
rs1365731487 COSM355259 COSM355260 CA362505472	316	I>T	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA133225678 rs868057176	317	Q>*		No	ClinGen Ensembl
rs1485119276 CA362505466	317	Q>R		No	ClinGen TOPMed gnomAD
rs199942873 CA3606949	318	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs762045883 CA133225658	320	R>Q		No	ClinGen TOPMed gnomAD
rs759344198 CA3606948	320	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3606946 rs770915197	324	E>K		No	ClinGen ExAC gnomAD
rs368409212 CA3606944	326	I>T		No	ClinGen ESP ExAC gnomAD
CA3606945 rs142137236	326	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434014466 CA362505371	330	N>D		No	ClinGen TOPMed
CA3606925 rs762849271	331	P>A		No	ClinGen ExAC gnomAD
rs147644625 CA3606920	335	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147644625 CA3606921	335	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs747487993 CA3606919	336	E>K		No	ClinGen ExAC TOPMed gnomAD
rs780574925 CA3606918	341	P>A		No	ClinGen ExAC gnomAD
CA362505277 rs1244634915	341	P>H		No	ClinGen gnomAD
CA3606917 rs758647889	342	I>V		No	ClinGen ExAC gnomAD
CA362505262 rs1482697612	343	L>V		No	ClinGen gnomAD
CA362505236 rs1309857166	346	T>K		No	ClinGen TOPMed gnomAD
rs1309857166 CA362505234	346	T>M		No	ClinGen TOPMed gnomAD
rs373140562 CA133225127	347	A>T		No	ClinGen ESP TOPMed
CA3606912 rs780835175	348	G>R		No	ClinGen ExAC gnomAD
rs894072425 CA133225084	350	E>D		No	ClinGen TOPMed
rs766452541 CA3606909	350	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3606910 rs766452541	350	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3606908 RCV000247678 rs111916034 RCV000878728	350	E>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs750248744 CA3606907	352	V>M		No	ClinGen ExAC gnomAD
rs1368679940 CA362505169	356	V>M		No	ClinGen TOPMed gnomAD
CA362505159 rs1167847494	357	K>M		No	ClinGen gnomAD
CA16042524 RCV000414155 rs1057518359	360	A>V		No	ClinGen ClinVar dbSNP gnomAD
rs1581673176 CA362505139	361	Y>D		No	ClinGen Ensembl
rs768687155 CA3606903	363	P>L		No	ClinGen ExAC TOPMed gnomAD
rs768687155 CA3606904	363	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1045467014 CA133225035	365	E>D		No	ClinGen TOPMed
CA3606897 rs369919880	365	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362505116 rs369919880	365	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA133222078 rs890405471	369	Y>H		No	ClinGen TOPMed
CA3606843 rs778849804	370	K>R		No	ClinGen ExAC TOPMed gnomAD
rs529476780 CA3606842	371	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1052189376 CA133222050	372	G>R		No	ClinGen TOPMed
CA362505044 rs1245783996	373	K>T		No	ClinGen Ensembl
rs1325725802 CA362505034	374	A>V		No	ClinGen gnomAD
CA133222049 rs867766953	376	S>F		No	ClinGen Ensembl
CA362505023 COSM94344 rs777529468 COSM94345	377	G>R	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM94345 COSM94344 CA3606840 rs777529468	377	G>R	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs934716331 CA133222043	377	G>V		No	ClinGen TOPMed gnomAD
CA3606839 VAR_042063 rs372947534 COSM20747	378	R>C	kidney a renal clear cell carcinoma sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
CA3606838 rs200763913	378	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200763913 CA362505016	378	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362505008 rs1561730162	379	H>Q		No	ClinGen Ensembl
rs1222091667 CA362505004	380	S>N		No	ClinGen TOPMed
CA133222037 rs376366358	381	P>L		No	ClinGen ESP TOPMed
CA3606835 rs751605818	383	A>S		No	ClinGen ExAC gnomAD
CA3606833 rs763552899	385	V>L		No	ClinGen ExAC gnomAD
rs763552899 CA362504976	385	V>M		No	ClinGen ExAC gnomAD
CA133222001 rs138573762	386	L>F		No	ClinGen Ensembl
rs1418459191 CA362504963	387	K>T		No	ClinGen TOPMed
rs1190971662 CA362504934	391	E>G		No	ClinGen gnomAD
rs762296374 CA3606830	392	A>T		No	ClinGen ExAC gnomAD
CA3606828 rs771633655	393	S>N		No	ClinGen ExAC TOPMed gnomAD
CA3606827 rs373516203	393	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3606826 rs773727727	395	G>D		No	ClinGen ExAC gnomAD
CA362504904 rs1302207930	396	T>S		No	ClinGen TOPMed
CA362504889 rs1252975834	398	T>I		No	ClinGen gnomAD
rs541027883 CA362504887	399	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs541027883 CA3606824	399	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs140137910 CA362504882	400	A>D		No	ClinGen ESP TOPMed
rs369939230 CA3606820	400	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3606821 rs369939230	400	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs140137910 CA133221929	400	A>V		No	ClinGen ESP TOPMed
rs143098805 CA133221910	404	S>C		No	ClinGen TOPMed
rs1333005497 CA362504851	405	A>T		No	ClinGen gnomAD
rs1004072797 CA133221900	408	L>P		No	ClinGen Ensembl
CA362504828 rs1245699281	409	R>K		No	ClinGen TOPMed
CA133221895 rs907068772	410	R>C		No	ClinGen TOPMed gnomAD
rs758603930 CA3606815	410	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758603930 CA362504822	410	R>L		No	ClinGen ExAC TOPMed gnomAD
rs750933049 CA3606814	411	N>S		No	ClinGen ExAC TOPMed gnomAD
rs750933049 CA362504817	411	N>T		No	ClinGen ExAC TOPMed gnomAD
rs765858044 CA133221873	412	I>F		No	ClinGen ExAC TOPMed gnomAD
rs765858044 CA3606813	412	I>V		No	ClinGen ExAC TOPMed gnomAD
rs555206415 CA133221857	415	E>K		No	ClinGen 1000Genomes
CA3606812 rs762176309	417	V>E		No	ClinGen ExAC gnomAD
rs1268798979 CA362504776	418	V>M		No	ClinGen gnomAD
rs764583810 CA3606810	419	N>D		No	ClinGen ExAC gnomAD
CA3606784 rs768308058	421	P>R		No	ClinGen ExAC gnomAD
CA3606785 rs776682740	421	P>S		No	ClinGen ExAC gnomAD
rs151140076 CA3606781	423	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368621289 CA3606783	423	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA362504721 rs1446206847	425	H>P		No	ClinGen TOPMed
CA133221644 rs928804532	429	A>V		No	ClinGen TOPMed gnomAD
rs375128787 CA3606780	430	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs746155840 CA3606779	430	S>F		No	ClinGen ExAC TOPMed gnomAD
rs370814810 CA3606777	431	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA133221614 rs867280522	431	S>F		No	ClinGen Ensembl
rs1484969230 CA362504662	434	I>T		No	ClinGen TOPMed gnomAD
CA362504647 rs1221447329	436	S>L		No	ClinGen TOPMed gnomAD
CA3606774 rs199915118	437	R>C		No	ClinGen ExAC TOPMed gnomAD
CA362504642 rs866937901	437	R>H		No	ClinGen Ensembl
rs866937901 CA133221564	437	R>L		No	ClinGen Ensembl
CA362504622 rs1367683600	440	R>C		No	ClinGen gnomAD
CA3606773 rs753074837	440	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3606772 rs147703852	441	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1434595560 CA362504615	441	Q>R		No	ClinGen gnomAD
rs1203012909 CA362504611	442	A>T		No	ClinGen TOPMed
CA3606771 rs367879842	442	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362504605 rs1412696082	443	L>F		No	ClinGen TOPMed gnomAD
CA362504601 rs1581664185	444	T>P		No	ClinGen Ensembl
CA3606770 rs750135480	446	T>A		No	ClinGen ExAC gnomAD
rs963089368 CA133221516	446	T>M		No	ClinGen TOPMed gnomAD
rs954533152 CA133221494	447	A>T		No	ClinGen TOPMed
CA3606767 rs776396153	447	A>V		No	ClinGen ExAC gnomAD
CA362504575 rs1426648914	448	Y>C		No	ClinGen TOPMed
CA565354478 rs1207407423	449	G>A		No	ClinGen gnomAD
rs760476680 CA3606765	449	G>R		No	ClinGen ExAC gnomAD
rs775417947 CA3606764	450	V>M		No	ClinGen ExAC gnomAD
CA362504542 rs1344796390	454	L>F		No	ClinGen TOPMed gnomAD
CA362504541 rs1295797726	454	L>H		No	ClinGen gnomAD
COSM94342 CA3606761 COSM94343 rs774672515	461	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA362504489 rs1434669520	461	R>W		No	ClinGen gnomAD
rs770875173 CA3606760	462	P>R		No	ClinGen ExAC TOPMed gnomAD
CA362504479 rs1581663967	463	W>R		No	ClinGen Ensembl
rs920759638 CA133221405	464	T>I		No	ClinGen TOPMed gnomAD
CA362504446 rs1346106548	467	K>N		No	ClinGen TOPMed
rs1431492937 CA362504438	468	M>I		No	ClinGen TOPMed gnomAD
rs778084758 CA3606758	470	A>V		No	ClinGen ExAC gnomAD
CA362504417 rs1301490674	471	Q>R		No	ClinGen TOPMed
rs748722317 CA3606756	472	R>C		No	ClinGen ExAC gnomAD
CA3606755 rs143813005	472	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362504401 rs1179655650	474	L>V		No	ClinGen gnomAD
CA3606730 rs747401546	475	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768956955 CA3606731	475	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3606729 rs756924526	476	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3606727 rs753505100	476	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3606728 rs756924526 COSM1207264 COSM1207265	476	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3606725 rs755736057	477	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs777308792 CA3606726	477	R>W		No	ClinGen ExAC TOPMed gnomAD
CA362504356 rs1434201128	480	Q>R		No	ClinGen gnomAD
CA3606723 rs767595130	481	D>E		No	ClinGen ExAC gnomAD
rs540558678 CA3606721	482	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs540558678 CA3606722	482	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3606720 rs766145239	484	P>R		No	ClinGen ExAC
rs773345268 CA3606718	485	Q>E		No	ClinGen ExAC
CA133218035 rs780355335	486	C>Y		No	ClinGen Ensembl
CA3606716 rs769840412	487	R>C		No	ClinGen ExAC TOPMed gnomAD
rs749803588 CA3606715	487	R>H		No	ClinGen ExAC TOPMed gnomAD
CA362504300 rs1342679488	489	W>R		No	ClinGen gnomAD
rs371005144 CA3606714 RCV000943862	490	R>G		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3606713 rs146167161	491	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3606710 rs772365375	492	V>M		No	ClinGen ExAC gnomAD
CA3606709 rs373491903	493	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001636839 VAR_018407 CA3606707 rs307826 RCV000254379	494	T>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3606706 rs566339142	494	T>M		No	ClinGen ExAC gnomAD
CA3606708 rs307826	494	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3606704 rs754952850	496	D>V		No	ClinGen ExAC gnomAD
rs762704129 CA3606701	498	V>A		No	ClinGen ExAC gnomAD
rs766166148 CA3606702	498	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3606700 rs770248086	500	P>S		No	ClinGen ExAC gnomAD
rs1454083597 CA362504229	501	I>V		No	ClinGen gnomAD
CA3606698 rs139272488	502	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs150819165 CA362504212	503	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3606696 rs150819165	503	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581658805 CA362504195	506	T>P		No	ClinGen Ensembl
CA3606694 rs775912367	507	W>R		No	ClinGen ExAC gnomAD
rs769584370 CA3606690	509	E>A		No	ClinGen ExAC TOPMed gnomAD
rs769584370 CA3606691	509	E>G		No	ClinGen ExAC TOPMed gnomAD
CA3606692 rs781305649	509	E>K		No	ClinGen ExAC TOPMed gnomAD
rs148329571 CA3606689	511	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1299470980 CA362504161	511	V>L		No	ClinGen gnomAD
CA362504154 rs1364001501	512	E>G		No	ClinGen gnomAD
CA3606688 rs780843533	513	G>E		No	ClinGen ExAC gnomAD
rs1414549766 CA362504133	515	N>S		No	ClinGen gnomAD
rs1290264176 CA362504074	522	V>L		No	ClinGen TOPMed gnomAD
CA362504057 rs1165529297	524	Q>L		No	ClinGen gnomAD
CA362504048 rs1581655418	525	N>K		No	ClinGen Ensembl
rs757097428 CA3606661	525	N>S		No	ClinGen ExAC gnomAD
CA3606660 rs754012423	527	N>D		No	ClinGen ExAC gnomAD
rs35874891 VAR_034379 CA3606659	527	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs557205062 CA3606657	528	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362504019 rs1408501130	530	A>V		No	ClinGen TOPMed gnomAD
CA3606654 rs752151539	535	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1454135156 CA362503980	536	V>I		No	ClinGen TOPMed
CA3606653 rs766826655	539	K>T		No	ClinGen ExAC gnomAD
COSM1436690 CA3606650 rs768195465 COSM1436689	545	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3606651 rs776380290	545	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1469512739 CA362503881	550	Y>C		No	ClinGen gnomAD
rs1247073464 CA362503866	552	T>I		No	ClinGen gnomAD
rs1449574463 CA362503864	553	T>P		No	ClinGen gnomAD
CA362503838 rs1161705616	555	P>S		No	ClinGen TOPMed
CA362503825 rs1238651080	557	G>S		No	ClinGen gnomAD
CA362503809 rs1212875216	559	T>I		No	ClinGen gnomAD
CA133215592 rs372330214	560	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs751002839 CA3606617	561	E>K		No	ClinGen ExAC gnomAD
rs1352130282 CA362503783	563	K>R		No	ClinGen TOPMed
CA3606616 rs765501058	565	S>P		No	ClinGen ExAC TOPMed gnomAD
rs757667364 CA3606615	566	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757667364 CA362503768	566	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1561720206 CA362503761	567	E>K		No	ClinGen Ensembl
rs752254501 CA3606614	568	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1412869077 CA362503719	573	P>Q		No	ClinGen gnomAD
CA362503711 rs1374756523	574	V>G		No	ClinGen gnomAD
CA3606611 rs773839174	575	L>F		No	ClinGen ExAC gnomAD
CA362503710 rs773839174	575	L>I		No	ClinGen ExAC gnomAD
CA3606610 rs765940101	579	Q>E		No	ClinGen ExAC gnomAD
CA362503668 rs1327228282	581	D>G		No	ClinGen gnomAD
COSM2156376 rs368426530 CA3606607 COSM2156375	581	D>N	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA362503652 rs1561720027	583	Y>C		No	ClinGen Ensembl
rs1474546534 CA362503627	586	E>D		No	ClinGen gnomAD
CA133215527 rs1008127496	586	E>G		No	ClinGen Ensembl
rs1179603465 CA362503632	586	E>K		No	ClinGen gnomAD
rs1257407955 CA362503621	587	H>R		No	ClinGen gnomAD
rs748004441 CA3606606	589	R>G		No	ClinGen ExAC gnomAD
CA3606604 rs769009683	590	W>*		No	ClinGen ExAC gnomAD
CA362503596 rs1581652355	591	Y>S		No	ClinGen Ensembl
CA133215496 rs375315719	592	R>C		No	ClinGen ESP
CA362503587 rs1204416992	592	R>L		No	ClinGen TOPMed
rs747290456 CA3606603	593	L>F		No	ClinGen ExAC
rs780273008 CA3606602	594	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3606601 rs758587669	597	T>M		No	ClinGen ExAC TOPMed gnomAD
CA362503560 rs758587669	597	T>R		No	ClinGen ExAC TOPMed gnomAD
CA133215459 rs866818754	598	L>V		No	ClinGen Ensembl
CA362503539 rs779510103	600	D>E		No	ClinGen ExAC gnomAD
rs371587872 CA3606598	601	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs754245879 CA3606597	601	A>V		No	ClinGen ExAC gnomAD
rs1297327643 CA362503528	602	H>Q		No	ClinGen TOPMed gnomAD
rs1297327643 CA362503529	602	H>Q		No	ClinGen TOPMed gnomAD
CA3606595 rs754621734	602	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA3606593 rs765851763	604	N>S		No	ClinGen ExAC
rs144803521 CA3606588	609	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3606587 rs144803521	609	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747198757 CA3606586	611	K>E		No	ClinGen ExAC gnomAD
CA362503454 rs1310636098	614	H>Y		No	ClinGen TOPMed
CA362503435 rs1176988485	617	A>T		No	ClinGen gnomAD
CA3606584 rs772241870	618	T>I		No	ClinGen ExAC gnomAD
rs1488955419 CA362503427	618	T>P		No	ClinGen gnomAD
rs1339512182 CA362503422	619	P>S		No	ClinGen TOPMed
CA3606581 rs771458044	622	A>T		No	ClinGen ExAC gnomAD
rs749828912 CA3606580	623	S>N		No	ClinGen ExAC gnomAD
CA3606578 rs756521513	625	E>G		No	ClinGen ExAC gnomAD
CA3606579 rs778080400	625	E>K		No	ClinGen ExAC gnomAD
rs1323520490 CA362503374	627	V>A		No	ClinGen gnomAD
rs898254186 CA133215260	627	V>M		No	ClinGen TOPMed
CA3606575 rs201196147	628	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3606576 rs201196147	628	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362503368 rs1321898079	628	A>V		No	ClinGen gnomAD
rs1455870798 CA362503360	630	G>R		No	ClinGen gnomAD
CA362503350 rs1362559080	631	A>V		No	ClinGen gnomAD
COSM1241176 CA362503347 rs1158883745 COSM1241175	632	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1158883745 CA362503348	632	R>G		No	ClinGen TOPMed gnomAD
COSM3669457 CA3606574 COSM3669458 rs749960761	632	R>H	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764708547 CA3606573	633	H>R		No	ClinGen ExAC gnomAD
rs1468150967 CA362503337	634	A>T		No	ClinGen gnomAD
CA362503327 rs753863393	635	T>M		No	ClinGen ExAC gnomAD
CA3606571 rs753863393	635	T>R		No	ClinGen ExAC gnomAD
rs760581324 CA3606569	636	L>V		No	ClinGen ExAC gnomAD
rs772355537 CA3606567	637	S>N		No	ClinGen ExAC TOPMed gnomAD
COSM98907 COSM98908 CA3606566 rs148898412	637	S>R	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
VAR_018408 CA3606565 rs55667289	641	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1448080273 CA362503287	642	R>H		No	ClinGen TOPMed
rs150093355 CA3606564	643	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM252504 rs1391338478 CA362503274 COSM252505	644	A>V	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1383559185 CA362503264	646	E>G		No	ClinGen gnomAD
rs748514089 CA3606560	646	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1377667967 CA362503252	648	E>K		No	ClinGen gnomAD
CA362503244 rs1172150966	649	G>S		No	ClinGen gnomAD
rs778453271 CA3606556	654	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3606557 rs778453271	654	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA362503197 rs1581651434	655	V>G		No	ClinGen Ensembl
rs1195479771 CA362503186	657	D>N		No	ClinGen gnomAD
rs540963025 CA362503177	658	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs540963025 CA3606554	658	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3606553 rs764133819	659	R>G		No	ClinGen ExAC gnomAD
rs1277991170 CA362503172	659	R>H		No	ClinGen gnomAD
rs767283379 CA3606550	661	H>L		No	ClinGen ExAC TOPMed gnomAD
rs760493135 CA3606552	661	H>N		No	ClinGen ExAC gnomAD
rs767283379 CA3606551	661	H>R		No	ClinGen ExAC TOPMed gnomAD
rs760493135 CA362503162	661	H>Y		No	ClinGen ExAC gnomAD
CA362503157 rs1299399012	662	D>H		No	ClinGen gnomAD
rs759773278 CA3606549	663	K>R		No	ClinGen ExAC gnomAD
rs774487220 CA3606548	664	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1397184267 CA362503111	668	K>E		No	ClinGen gnomAD
CA362503109 rs1201211768	668	K>T		No	ClinGen TOPMed
rs770298389 CA3606544	671	S>L		No	ClinGen ExAC gnomAD
rs754733831 CA3606515	679	R>L		No	ClinGen ExAC gnomAD
rs754733831 CA133214632	679	R>Q		No	ClinGen ExAC gnomAD
rs1324497116 CA362503028	679	R>W		No	ClinGen gnomAD
CA362503024 rs1247251650	680	L>F		No	ClinGen TOPMed
rs201884197 CA362503016	681	T>M		No	ClinGen gnomAD
rs201884197 CA133214625	681	T>R		No	ClinGen gnomAD
CA133214623 rs534556161	682	Q>R		No	ClinGen Ensembl
CA362502986 rs1410033838	686	D>N		No	ClinGen gnomAD
rs139399208 CA3606513	687	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139399208 CA3606512	687	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750680044 CA3606511	689	V>L		No	ClinGen ExAC TOPMed gnomAD
CA362502959 rs1377949089	690	N>K		No	ClinGen TOPMed gnomAD
CA362502958 rs1377949089	690	N>K		No	ClinGen TOPMed gnomAD
rs765274674 CA3606510	691	V>L		No	ClinGen ExAC TOPMed gnomAD
rs755931433 CA3606509	694	S>L		No	ClinGen ExAC TOPMed gnomAD
CA362502924 rs1436421347	696	E>*		No	ClinGen TOPMed
rs775717933 CA3606505	698	Q>L		No	ClinGen ExAC gnomAD
CA362502905 rs775717933	698	Q>R		No	ClinGen ExAC gnomAD
CA3606503 rs762674026	699	C>Y		No	ClinGen ExAC gnomAD
CA362502877 rs1369049878	703	G>R		No	ClinGen gnomAD
CA3606502 rs773021479	704	A>V		No	ClinGen ExAC gnomAD
CA3606500 rs141371034	705	H>P		No	ClinGen ESP ExAC gnomAD
CA362502860 rs374274961	705	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM591668 COSM591669 rs747033940 CA362502856	706	A>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3606498 rs768465100	706	A>T		No	ClinGen ExAC TOPMed gnomAD
rs747033940 CA3606497	706	A>V		No	ClinGen ExAC TOPMed gnomAD
rs758234191 CA3606495	710	V>M		No	ClinGen ExAC TOPMed gnomAD
rs757307082 CA3606492	715	E>K		No	ClinGen ExAC TOPMed gnomAD
rs533142214 CA3606490	716	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3606488 rs753297291	719	E>D		No	ClinGen ExAC TOPMed gnomAD
CA133214425 rs767945020	721	K>M		No	ClinGen ExAC TOPMed gnomAD
rs767945020 CA3606487	721	K>T		No	ClinGen ExAC TOPMed gnomAD
COSM591672 rs761339590 COSM591671 CA3606461	723	G>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs776391360 CA3606460	724	V>I		No	ClinGen ExAC gnomAD
CA362502722 rs1474479369	725	D>G		No	ClinGen gnomAD
CA3606457 rs775336901	725	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3606458 rs775336901	725	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs762560832 CA3606456	727	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3606454 rs142990837	730	N>S		No	ClinGen ESP ExAC gnomAD
CA362502662 rs1334071470	734	S>N		No	ClinGen gnomAD
CA3606449 rs748253400	734	S>R		No	ClinGen ExAC gnomAD
CA133214130 rs146907852	736	Q>L		No	ClinGen Ensembl
rs1370847176 CA362502640	737	R>H		No	ClinGen gnomAD
CA362502637 rs752151565	738	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3606446 rs752151565	738	V>L		No	ClinGen ExAC TOPMed gnomAD
CA133214127 rs933223149	739	R>H		No	ClinGen TOPMed
CA362502632 rs1396050542	739	R>S		No	ClinGen gnomAD
rs1460398148 CA362502627	740	E>K		No	ClinGen TOPMed gnomAD
rs1417735653 CA362502622	740	E>V		No	ClinGen gnomAD
rs758808900 CA3606444	741	E>D		No	ClinGen ExAC gnomAD
CA3606445 rs576210492	741	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs138368337 CA3606443	745	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs184409663 CA3606442	745	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3606440 rs774978737	747	L>M		No	ClinGen ExAC TOPMed
rs767057003 CA3606439	747	L>Q		No	ClinGen ExAC gnomAD
CA133214092 rs774298473	749	S>R		No	ClinGen ExAC TOPMed gnomAD
rs770591360 CA3606436 COSM3381220 COSM3381221	753	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA133214077 rs142326886	754	K>E		No	ClinGen Ensembl
CA3606435 rs749113486	756	C>S		No	ClinGen ExAC gnomAD
CA362502507 rs1439489863	758	N>T		No	ClinGen gnomAD
CA362502494 rs1290115507	760	S>T		No	ClinGen Ensembl
CA3606432 rs751070179	761	A>S		No	ClinGen ExAC gnomAD
CA3606431 rs781389093	762	S>I		No	ClinGen ExAC TOPMed gnomAD
rs747466181 CA3606429	762	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3606430 rs747466181	762	S>R		No	ClinGen ExAC TOPMed gnomAD
rs781389093 CA362502482	762	S>T		No	ClinGen ExAC TOPMed gnomAD
rs150418983 CA133214001	764	A>P		No	ClinGen gnomAD
rs150418983 CA362502474	764	A>T		No	ClinGen gnomAD
CA3606426 rs750811224	766	E>K		No	ClinGen ExAC gnomAD
CA3606385 rs760862462	767	G>A		No	ClinGen ExAC TOPMed gnomAD
CA3606386 rs760862462	767	G>V		No	ClinGen ExAC TOPMed gnomAD
CA3606383 rs144822344	769	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3606382 rs746340642	772	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3606381 rs779323987	773	S>I		No	ClinGen ExAC TOPMed gnomAD
CA362502390 rs1285451257	774	M>I		No	ClinGen TOPMed
CA362502375 rs139263798	776	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362502380 rs1348951399	776	I>V		No	ClinGen TOPMed
rs147312865 CA133212151	777	V>E		No	ClinGen ExAC gnomAD
CA3606379 rs147312865	777	V>G		No	ClinGen ExAC gnomAD
CA3606378 rs778170197	778	I>V		No	ClinGen ExAC gnomAD
CA362502362 COSM1637200 COSM1637199 rs1438098797	779	L>F	bone [Cosmic]	No	ClinGen cosmic curated gnomAD
rs144102777 CA133212127	781	G>C		No	ClinGen Ensembl
CA3606376 rs751208910	782	T>I		No	ClinGen ExAC gnomAD
CA3606373 rs527697511	783	G>S		No	ClinGen 1000Genomes ExAC gnomAD
COSM1436680 CA3606371 rs757057248 COSM1436681	784	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1006377301 CA133212097	786	A>T		No	ClinGen TOPMed
rs753669084 CA3606370	786	A>V		No	ClinGen ExAC gnomAD
CA3606369 rs764045579	787	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1182247320 CA362502288	791	V>A		No	ClinGen TOPMed
rs760931332 CA3606368	791	V>I		No	ClinGen ExAC gnomAD
rs765728136 CA3606367	792	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1392176864 CA362502273	794	L>F		No	ClinGen TOPMed gnomAD
rs1392176864 CA362502275	794	L>I		No	ClinGen TOPMed gnomAD
rs561809492 CA362502268	795	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs561809492 CA3606365	795	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1425393277 CA362502252	797	F>C		No	ClinGen TOPMed
CA133212040 rs148178465	798	C>*		No	ClinGen Ensembl
CA133212031 rs143655361	799	N>Y		No	ClinGen Ensembl
CA362502233 rs1438681121	800	M>L		No	ClinGen gnomAD
rs1305114210 CA362502226	801	R>G		No	ClinGen TOPMed
CA362502215 rs1368938536	802	R>M		No	ClinGen TOPMed
rs147284137 CA3606337	803	P>L		No	ClinGen ESP ExAC gnomAD
CA3606335 rs201830193	804	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3606334 rs756851514	805	H>D		No	ClinGen ExAC gnomAD
rs1262531388 CA362502167	808	I>T		No	ClinGen TOPMed
rs1217915893 CA362502170	808	I>V		No	ClinGen TOPMed
CA362502152 rs1192081897	810	T>R		No	ClinGen gnomAD
CA3606329 rs781112074	815	I>V		No	ClinGen ExAC gnomAD
CA362502119 rs1561715255	816	I>V		No	ClinGen Ensembl
CA362502096 rs1278056526	818	D>E		No	ClinGen TOPMed gnomAD
CA362502099 rs1269879325	818	D>G		No	ClinGen TOPMed
CA362502092 rs1215217451	819	P>H		No	ClinGen gnomAD
CA3606328 rs555761930	820	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs555761930 CA133211714	820	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA362502087 rs1276261095	820	G>R		No	ClinGen TOPMed gnomAD
rs1276261095 CA362502089	820	G>R		No	ClinGen TOPMed gnomAD
CA3606325 rs763049130	821	E>D		No	ClinGen ExAC gnomAD
CA362502085 rs1314469826	821	E>K		No	ClinGen gnomAD
rs765671332 CA3606323	823	P>L		No	ClinGen ExAC gnomAD
rs1416689328 CA362502066	824	L>P		No	ClinGen gnomAD
CA362502020 rs1581645429	830	Y>S		No	ClinGen Ensembl
CA3606318 rs201205543	834	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362501984 rs1278705265	836	S>G		No	ClinGen TOPMed
CA362501980 rs201685369	836	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1256172400 CA362501976	837	Q>*		No	ClinGen TOPMed gnomAD
CA362501972 rs1310505137	837	Q>H		No	ClinGen TOPMed
rs1357291595 CA362501967	838	W>*		No	ClinGen TOPMed
CA3606316 rs770500099	842	R>Q		No	ClinGen ExAC gnomAD
rs201756397 CA3606314	843	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362501935 rs748821416	843	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3606315 rs748821416	843	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3606311 rs369391926	844	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA362501928 rs748159932	844	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1581645146 CA362501909	847	L>P		No	ClinGen Ensembl
rs368752216 CA3606285	848	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3606284 rs550906618	849	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA133211075 rs144045237	854	G>R		No	ClinGen Ensembl
rs764609077 CA3606279	858	K>R		No	ClinGen ExAC gnomAD
CA3606277 rs776371370	860	V>M		No	ClinGen ExAC gnomAD
rs768562688 CA3606276	864	A>T		No	ClinGen ExAC gnomAD
rs1402263727 CA362501781	866	G>D		No	ClinGen gnomAD
CA133210995 rs910059826	866	G>S		No	ClinGen TOPMed
VAR_042064 CA3606273 COSM4155792 COSM4155793 rs35171798 RCV000893786	868	H>Y	kidney [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746026756 CA3606272	869	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3606271 rs779202482	870	G>A		No	ClinGen ExAC gnomAD
CA362501748 rs1313686429	871	S>N		No	ClinGen TOPMed
CA3606270 rs35436199	872	S>N		No	ClinGen ExAC TOPMed gnomAD
CA133210916 rs35436199	872	S>T		No	ClinGen ExAC TOPMed gnomAD
rs759987581 CA3606157	883	E>A		No	ClinGen ExAC gnomAD
CA362501641 rs1581641970	885	A>S		No	ClinGen Ensembl
rs771222400 CA3606155	886	T>K		No	ClinGen ExAC TOPMed gnomAD
CA362501635 rs771222400	886	T>M		No	ClinGen ExAC TOPMed gnomAD
rs774874185 CA3606156	886	T>S		No	ClinGen ExAC gnomAD
CA362501605 rs448012	890	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362501602 rs1489676984	891	R>C		No	ClinGen TOPMed
rs768185411 CA3606152	891	R>H		No	ClinGen ExAC gnomAD
rs1199271374 CA362501597	892	A>S		No	ClinGen gnomAD
CA362501579 rs1319877692	895	S>P		No	ClinGen gnomAD
rs1175920553 CA362501549	899	I>F		No	ClinGen TOPMed
rs201565337 CA133210093	900	L>I		No	ClinGen 1000Genomes
rs771726665 CA3606149	901	I>T		No	ClinGen ExAC gnomAD
rs1445283130 CA362501538	901	I>V		No	ClinGen TOPMed gnomAD
CA3606148 rs745758689	903	I>L		No	ClinGen ExAC TOPMed gnomAD
rs745758689 CA362501525	903	I>V		No	ClinGen ExAC TOPMed gnomAD
CA362501516 rs1188387197	904	G>A		No	ClinGen gnomAD
rs1466649601 CA362501517	904	G>R		No	ClinGen gnomAD
rs1466649601 CA362501519 COSM3429347 COSM3429348	904	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs778995782 CA3606147	905	N>S		No	ClinGen ExAC gnomAD
CA3606146 rs372072725	911	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs753560971 CA3606145	912	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1303393718 CA362501416	919	P>L		No	ClinGen TOPMed
rs200549655 CA3606141	919	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA362501415 rs1197856662	920	Q>*		No	ClinGen gnomAD
CA3606140 rs759619449	920	Q>R		No	ClinGen ExAC gnomAD
rs1402122481 CA362501389	922	P>A		No	ClinGen TOPMed gnomAD
rs1358833619 CA362501385	922	P>L		No	ClinGen gnomAD
CA3606102 rs779946440	923	L>F		No	ClinGen ExAC gnomAD
rs1424125949 CA362501300	934	N>S		No	ClinGen gnomAD
CA3606099 rs765785200	937	N>S		No	ClinGen ExAC gnomAD
rs1483953430 CA362501263	940	R>C		No	ClinGen gnomAD
CA3606098 rs757762772	941	A>T		No	ClinGen ExAC gnomAD
CA133209768 rs867128408	945	A>S		No	ClinGen Ensembl
rs1338815640 CA362501213	947	S>R		No	ClinGen gnomAD
rs1338815640 CA362501214	947	S>R		No	ClinGen gnomAD
CA362501211 rs1295144727	948	P>A		No	ClinGen gnomAD
rs1554111911 CA362501208	948	P>H		No	ClinGen Ensembl
CA362501195 rs1381519868	950	A>E		No	ClinGen gnomAD
CA362501194 rs1381519868	950	A>G		No	ClinGen gnomAD
rs1396816704 CA362501198	950	A>T		No	ClinGen TOPMed gnomAD
CA3606078 rs754420354	952	K>M		No	ClinGen ExAC gnomAD
rs866347420 CA362501163	953	S>C		No	ClinGen gnomAD
rs866347420 CA133209631	953	S>Y		No	ClinGen gnomAD
rs34255532 CA362501160	954	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362501158 rs1381670438	954	P>R		No	ClinGen TOPMed gnomAD
rs1469141127 CA362501152	955	E>A		No	ClinGen gnomAD
CA133209624 rs867362551	955	E>D		No	ClinGen gnomAD
rs1469141127 CA362501153	955	E>G		No	ClinGen gnomAD
rs751201470 CA3606076	955	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1231089968 CA362501140	957	R>G		No	ClinGen TOPMed
rs1453695178 CA362501133	958	G>A		No	ClinGen gnomAD
CA3606075 rs766043774	958	G>R		No	ClinGen ExAC gnomAD
rs868478447 CA133209616	961	R>C		No	ClinGen gnomAD
rs868478447 CA133209617	961	R>S		No	ClinGen gnomAD
CA133209596 rs1033675226	963	M>I		No	ClinGen Ensembl
rs895180169 CA133209610	963	M>T		No	ClinGen Ensembl
CA362501106 rs1222110987	963	M>V		No	ClinGen gnomAD
CA362501088 rs1421697987	965	E>D		No	ClinGen TOPMed
rs553992094 CA3606074	966	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553992094 CA362501085	966	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749921612 CA3606073	967	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1024117298 CA133209594	967	A>S		No	ClinGen TOPMed gnomAD
rs749921612 CA362501078	967	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1275372426 CA362501066	969	L>R		No	ClinGen gnomAD
CA362501065 rs1334489152	970	D>N		No	ClinGen TOPMed
rs761685785 CA362501055	971	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3606071 rs761685785	971	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA362501056 rs371615826	971	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA362501046 rs1400281005	973	R>G		No	ClinGen TOPMed gnomAD
rs768369889 CA3606069	973	R>L		No	ClinGen ExAC TOPMed gnomAD
CA133209567 rs768369889	973	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1400281005 CA362501045	973	R>W		No	ClinGen TOPMed gnomAD
CA3606068 rs760475708	975	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1402227171 CA362501030	976	S>N		No	ClinGen gnomAD
CA3606067 rs775204491	976	S>R		No	ClinGen ExAC gnomAD
rs772333279 CA3606066	977	S>R		No	ClinGen ExAC gnomAD
CA133209558 rs140041761	978	D>N		No	ClinGen Ensembl
CA3606065 rs779003113	979	R>S		No	ClinGen ExAC TOPMed gnomAD
rs369278638 CA3606063	981	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs749747524 CA3606062	982	F>L		No	ClinGen ExAC TOPMed gnomAD
CA362500987 rs1213825125	983	A>P		No	ClinGen gnomAD
CA362500982 rs1446557372	983	A>V		No	ClinGen gnomAD
CA3606060 RCV000865407 rs143163262	984	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA362500980 rs1179201670	984	R>W		No	ClinGen TOPMed
rs1262382099 CA362500965	986	S>W		No	ClinGen gnomAD
CA3606058 rs781453906	987	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1051985552 CA133209437	989	E>K		No	ClinGen gnomAD
CA362500950 rs1051985552 COSM48393	989	E>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3606056 rs750061747	990	G>D		No	ClinGen ExAC gnomAD
rs1561710437 CA362500942	990	G>R		No	ClinGen Ensembl
CA3606055 rs764684231	991	G>E		No	ClinGen ExAC gnomAD
rs1416698957 CA362500938	991	G>R		No	ClinGen gnomAD
CA362500923 rs1165335678	993	R>M		No	ClinGen TOPMed
rs1466474507 CA362500922	993	R>S		No	ClinGen TOPMed gnomAD
CA362500921 rs1466474507	993	R>S		No	ClinGen TOPMed gnomAD
rs574836127 CA3606052	995	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3606051 rs554781292	996	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1028386612 CA133209391	997	P>A		No	ClinGen TOPMed gnomAD
rs1189736923 CA362500884	1000	E>K		No	ClinGen gnomAD
rs538210680 CA3606050	1001	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1581635405 CA362500849	1003	D>G		No	ClinGen Ensembl
CA362500851 rs1218205510	1003	D>N		No	ClinGen gnomAD
rs1205297853 CA362500829	1006	L>V		No	ClinGen gnomAD
rs149033942 CA3606016	1008	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs149033942 CA3606017	1008	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351116082 CA362500744	1018	S>T		No	ClinGen TOPMed
rs1581635287 CA362500720	1021	V>G		No	ClinGen Ensembl
CA133208019 rs56364366	1022	A>G		No	ClinGen Ensembl
CA362500718 rs1298985658	1022	A>T		No	ClinGen gnomAD
rs764532088 CA133207973	1027	F>L		No	ClinGen Ensembl
rs1244988443 CA362500660	1031	R>G		No	ClinGen TOPMed
CA3606011 VAR_042066 rs56082504	1031	R>Q		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs776009030 CA3605983 RCV001002314	1036	R>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA362500550 COSM327804 rs1460237997 COSM327803	1046	S>L	large_intestine skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs573813758 CA362500534	1048	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3605977 rs56127961	1049	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3605979 VAR_042067 rs56310180	1049	D>N		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA3605978 rs747887222	1049	D>V		No	ClinGen ExAC TOPMed gnomAD
CA3605975 COSM3941276 COSM3941277 rs373876329	1050	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3605970 rs757396801	1060	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778806900 CA3605971 COSM1436673 COSM1436674	1060	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1312968474 CA362500449	1062	I>L		No	ClinGen gnomAD
CA362500448 rs1312968474	1062	I>V		No	ClinGen gnomAD
CA362500437 rs1212477595	1063	Y>F		No	ClinGen TOPMed
CA362500433 rs1377589251	1064	K>E		No	ClinGen gnomAD
rs1253108216 CA362500425	1065	D>H		No	ClinGen TOPMed
rs961025049 CA133205026	1066	P>L		No	ClinGen TOPMed
rs1469484040 CA362500416	1066	P>S		No	ClinGen TOPMed
CA3605967 rs760757893	1067	D>N		No	ClinGen ExAC TOPMed gnomAD
rs760077499 CA3605964	1069	V>I		No	ClinGen ExAC TOPMed gnomAD
CA133204999 rs760077499	1069	V>L		No	ClinGen ExAC TOPMed gnomAD
CA133204994 rs774554521	1070	R>C		No	ClinGen ExAC TOPMed
CA3605963 rs774554521	1070	R>G		No	ClinGen ExAC TOPMed
COSM1252591 rs771345898 COSM1252590 CA3605962	1070	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA362500393 COSM1436672 rs771345898 COSM1436671	1070	R>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA133204981 rs771345898	1070	R>P		No	ClinGen ExAC TOPMed gnomAD
rs781205285 CA3605916	1074	A>V		No	ClinGen ExAC gnomAD
rs1400220848 VAR_042068 CA362500351	1075	R>Q		No	ClinGen UniProt TOPMed dbSNP gnomAD
rs751949687 CA3605914	1075	R>W		No	ClinGen ExAC gnomAD
CA3605913 rs535681122	1078	L>V		No	ClinGen 1000Genomes ExAC
CA362500321 rs1327720560	1080	W>L		No	ClinGen gnomAD
rs758898356 CA3605912	1082	A>G		No	ClinGen ExAC gnomAD
CA133203096 rs758898356	1082	A>V		No	ClinGen ExAC gnomAD
CA362500261 rs760356395	1088	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1376446971 CA362500268 COSM3429346 COSM3429345	1088	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs775314003 CA3605908	1089	K>E		No	ClinGen ExAC TOPMed gnomAD
CA133203054 rs1032290913	1089	K>N		No	ClinGen TOPMed
CA3605905 rs773799313	1093	T>A		No	ClinGen ExAC gnomAD
rs770869636 CA3605904 COSM3410194 COSM3410193	1093	T>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3605899 rs781402372 COSM3776590 COSM3776591	1097	V>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs201431522 CA133202974	1106	E>D		No	ClinGen 1000Genomes TOPMed
rs762379989 CA3605867	1114	P>T		No	ClinGen ExAC gnomAD
rs1169369338 CA362500064	1117	G>R		No	ClinGen gnomAD
rs1289863816 CA362500056	1118	V>A		No	ClinGen gnomAD
CA3605864 rs761783933	1118	V>M		No	ClinGen ExAC TOPMed gnomAD
rs763819522 CA3605862	1121	N>S		No	ClinGen ExAC TOPMed gnomAD
rs376188634 CA3605858	1127	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA362499968 rs1554109707	1131	G>R		No	ClinGen Ensembl
rs1159831646 CA362499962	1132	T>A		No	ClinGen gnomAD
rs1176433163 CA362499938	1135	R>K		No	ClinGen gnomAD
rs542112704 CA3605855	1136	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3605854 rs749833398	1136	A>V		No	ClinGen ExAC gnomAD
rs1581622164 CA362499919	1138	E>G		No	ClinGen Ensembl
CA133202133 rs867132509	1140	A>T		No	ClinGen Ensembl
rs1490062544 CA362499900	1141	T>S		No	ClinGen gnomAD
rs370894507 CA3605852	1142	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs758109515 CA3605849	1143	A>G		No	ClinGen ExAC TOPMed gnomAD
CA362499893 rs564369853	1143	A>S		No	ClinGen ExAC TOPMed gnomAD
rs564369853 CA3605850	1143	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1408330513 CA362499890	1144	I>V		No	ClinGen TOPMed
rs202140363 CA3605824	1145	R>C		No	ClinGen ExAC TOPMed gnomAD
CA133201784 rs954889734	1145	R>H		No	ClinGen gnomAD
rs774089319 CA3605823	1146	R>C		No	ClinGen ExAC TOPMed gnomAD
RCV001651286 VAR_018417 RCV000241743 CA3605822 rs1130379	1146	R>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3605821 rs145475446	1147	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396923986 CA362499851	1148	M>I		No	ClinGen gnomAD
CA133201776 rs899208009	1150	N>H		No	ClinGen TOPMed
CA3605819 rs75614493	1154	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362499809 rs1369456221	1154	G>V		No	ClinGen gnomAD
CA3605818 rs762925852	1155	D>N		No	ClinGen ExAC gnomAD
rs753200941 CA3605817	1157	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1387636006 CA362499788	1158	A>T		No	ClinGen gnomAD
CA362499783 rs1185976621	1158	A>V		No	ClinGen gnomAD
rs1479792146 CA362499767	1161	A>E		No	ClinGen TOPMed gnomAD
CA3605816 rs770166040	1161	A>T		No	ClinGen ExAC TOPMed gnomAD
CA362499765 rs1479792146	1161	A>V		No	ClinGen TOPMed gnomAD
rs375796750 CA3605815	1163	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1049080 CA133201730	1164	E>D		No	ClinGen Ensembl
rs769042845 CA3605813	1166	V>A		No	ClinGen ExAC TOPMed gnomAD
CA362499720 rs1403607630	1168	I>M		No	ClinGen TOPMed
CA3605812 rs745459631	1171	D>N		No	ClinGen ExAC TOPMed gnomAD
rs149299992 CA3605809	1174	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362499680 rs1426017403	1175	G>D		No	ClinGen TOPMed gnomAD
CA362499678 rs1426017403	1175	G>V		No	ClinGen TOPMed gnomAD
CA3605807 rs755954734	1177	G>C		No	ClinGen ExAC gnomAD
rs199900560 CA362499669	1177	G>D		No	ClinGen ExAC TOPMed gnomAD
rs755954734 CA3605808	1177	G>S		No	ClinGen ExAC gnomAD
CA3605806 rs199900560	1177	G>V		No	ClinGen ExAC TOPMed gnomAD
CA362499429 rs1188868499	1180	E>G		No	ClinGen TOPMed
rs1327663265 CA362499420	1181	E>K		No	ClinGen gnomAD
CA3605775 rs775810969	1182	E>D		No	ClinGen ExAC TOPMed gnomAD
CA133201077 rs1005859117	1184	V>F		No	ClinGen Ensembl
rs139544491 CA133201064	1185	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388425325 CA362499337	1185	C>R		No	ClinGen gnomAD
CA3605773 rs139544491	1185	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA362499288 rs1400346855	1186	M>T		No	ClinGen gnomAD
CA3605772 rs762445498	1186	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3605771 rs772928672	1188	P>L		No	ClinGen ExAC TOPMed gnomAD
rs744282 CA133201046	1189	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA3605768 rs370304760	1189	R>H		No	ClinGen ExAC TOPMed gnomAD
CA362499213 rs744282	1189	R>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA362499147 rs1561696035	1191	S>F		No	ClinGen Ensembl
rs938103588 CA133201039	1193	S>G		No	ClinGen Ensembl
rs768688678 CA362499101	1193	S>I		No	ClinGen ExAC TOPMed gnomAD
rs768688678 CA3605767	1193	S>N		No	ClinGen ExAC TOPMed gnomAD
rs779959568 CA3605765	1197	G>R		No	ClinGen ExAC TOPMed gnomAD
rs779959568 CA3605766	1197	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3605764 rs758221491	1198	S>C		No	ClinGen ExAC gnomAD
rs530977029 CA3605763	1200	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757488795 CA3605761	1201	Q>K		No	ClinGen ExAC gnomAD
rs1561695930 CA362498939	1202	V>E		No	ClinGen Ensembl
CA3605760 rs753884372	1202	V>M		No	ClinGen ExAC gnomAD
CA3605759 rs764208627	1205	M>I		No	ClinGen ExAC gnomAD
rs1581616678 CA362498890	1205	M>T		No	ClinGen Ensembl
rs1278571395 CA362498868	1206	A>V		No	ClinGen TOPMed
rs753206035 CA3605757	1208	H>R		No	ClinGen ExAC gnomAD
CA3605756 rs767716663	1209	I>V		No	ClinGen ExAC gnomAD
rs774642243 CA133200947	1210	A>S		No	ClinGen ExAC TOPMed gnomAD
rs774642243 CA3605754	1210	A>T		No	ClinGen ExAC TOPMed gnomAD
CA362498802 rs1277865618	1210	A>V		No	ClinGen TOPMed
CA133200930 rs373502619	1214	A>D		No	ClinGen ESP TOPMed
rs935819804 CA362498750	1214	A>S		No	ClinGen TOPMed gnomAD
CA133200931 rs935819804	1214	A>T		No	ClinGen TOPMed gnomAD
CA3605751 rs776229820	1216	D>G		No	ClinGen ExAC TOPMed gnomAD
rs746879565 CA3605749	1217	S>N		No	ClinGen ExAC TOPMed gnomAD
rs201698561 CA3605747	1218	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3605748 rs201698561	1218	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362498648 rs1439215901	1219	P>S		No	ClinGen gnomAD
CA3605745 rs150076789	1220	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362498587 rs1425090483	1223	R>C		No	ClinGen TOPMed
COSM294377 COSM294378 rs373742042 CA3605743	1223	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs752831891 CA3605740	1224	H>Q		No	ClinGen ExAC gnomAD
CA3605741 rs756198548	1224	H>R		No	ClinGen ExAC TOPMed gnomAD
CA133200870 rs914521928	1224	H>Y		No	ClinGen Ensembl
rs781719765 CA3605739	1225	S>N		No	ClinGen ExAC gnomAD
CA362498528 rs1352564955	1226	L>Q		No	ClinGen gnomAD
CA362498507 rs1398985437	1227	A>D		No	ClinGen TOPMed
rs755474389 CA3605738	1227	A>S		No	ClinGen ExAC gnomAD
CA3605736 rs369284915	1228	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA133199608 rs376656307	1231	Y>N		No	ClinGen ESP TOPMed
CA362498106 rs1188984263	1232	N>K		No	ClinGen TOPMed gnomAD
CA362498093 rs1390213157	1234	V>A		No	ClinGen TOPMed
rs1487839393 CA362498096	1234	V>M		No	ClinGen gnomAD
rs1171300137 CA362498075	1237	P>T		No	ClinGen TOPMed
rs766960409 CA3605712	1238	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3605709 rs770911540	1239	C>F		No	ClinGen ExAC gnomAD
rs1270698155 CA362498054	1240	L>R		No	ClinGen TOPMed
rs1365945352 CA362498037	1243	G>E		No	ClinGen TOPMed
COSM482649 COSM482648 rs1230678706 CA362498029	1244	A>V	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3605708 rs762732020	1247	R>C		No	ClinGen ExAC gnomAD
CA133199520 rs200178139	1247	R>H		No	ClinGen gnomAD
rs200178139 CA133199553	1247	R>L		No	ClinGen gnomAD
CA362498014 rs762732020	1247	R>S		No	ClinGen ExAC gnomAD
CA133199514 rs971065703	1248	G>D		No	ClinGen Ensembl
rs773030985 CA3605707	1248	G>S		No	ClinGen ExAC gnomAD
CA3605705 rs142649193	1251	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3605703 rs201542981	1254	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386248837 CA362497946	1257	E>A		No	ClinGen gnomAD
CA3605701 rs780696184	1259	P>S		No	ClinGen ExAC gnomAD
CA3605699 rs746207295	1260	M>L		No	ClinGen ExAC gnomAD
CA133199471 rs999488864	1260	M>T		No	ClinGen TOPMed
CA133199475 rs746207295	1260	M>V		No	ClinGen ExAC gnomAD
rs375662657 CA3605698	1263	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA362497889 rs1451901212	1266	K>*		No	ClinGen TOPMed gnomAD
rs1451901212 CA362497890	1266	K>E		No	ClinGen TOPMed gnomAD
rs1246682423 CA362497887	1266	K>R		No	ClinGen gnomAD
rs1462002134 CA362497878	1267	G>V		No	ClinGen gnomAD
CA3605695 rs371214562	1269	V>L		No	ClinGen ESP ExAC gnomAD
rs982192764 CA133198695	1271	N>D		No	ClinGen TOPMed
rs765893009 CA3605674	1271	N>S		No	ClinGen ExAC TOPMed
rs576256199 CA3605673	1272	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs950813882 CA133198685	1273	T>A		No	ClinGen TOPMed
rs770390886 CA133198683	1273	T>R		No	ClinGen gnomAD
rs1309404142 CA362497820	1275	S>G		No	ClinGen gnomAD
CA362497813 rs1369398175	1276	G>R		No	ClinGen gnomAD
rs1581609190 CA362497804	1277	M>T		No	ClinGen Ensembl
rs575927957 CA133198659	1278	V>A		No	ClinGen TOPMed gnomAD
rs1000190222 CA133198649	1282	E>G		No	ClinGen Ensembl
rs1344639920 CA362497766	1283	E>G		No	ClinGen TOPMed
rs761503019 CA3605669	1283	E>K		No	ClinGen ExAC gnomAD
CA362497759 rs1381963295	1284	F>S		No	ClinGen gnomAD
CA3605668 rs776559400	1285	E>A		No	ClinGen ExAC gnomAD
CA3605667 rs370998642	1286	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3605666 rs761010046	1286	Q>L		No	ClinGen ExAC gnomAD
CA3605665 rs775663376	1288	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1017869544 CA133198615	1289	S>N		No	ClinGen TOPMed
CA362497717 rs1355134730	1290	R>K		No	ClinGen gnomAD
rs774984160 CA3605662	1291	H>N		No	ClinGen ExAC gnomAD
rs771533981 CA3605661	1292	R>G		No	ClinGen ExAC gnomAD
CA362497705 rs1196244570	1292	R>T		No	ClinGen TOPMed
rs749584388 CA362497699	1293	Q>*		No	ClinGen ExAC gnomAD
CA3605660 rs749584388	1293	Q>E		No	ClinGen ExAC gnomAD
CA3605659 rs778249085	1295	S>N		No	ClinGen ExAC gnomAD
CA3605657 RCV000860883 rs138599624	1296	G>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3605629 rs199520663	1299	C>Y		No	ClinGen ExAC gnomAD
CA362496343 rs1382151235	1301	G>E		No	ClinGen TOPMed gnomAD
CA3605628 rs146806202	1303	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362496274 rs1182443829	1305	N>K		No	ClinGen gnomAD
CA362496249 rs1483772533	1307	A>S		No	ClinGen TOPMed gnomAD
CA362496254 rs1483772533	1307	A>T		No	ClinGen TOPMed gnomAD
rs1581596883 CA362496224	1308	V>G		No	ClinGen Ensembl
rs1456880702 CA362496211	1309	T>S		No	ClinGen gnomAD
CA362496166 rs1561683962	1312	H>Y		No	ClinGen Ensembl
CA3605625 rs185808242	1313	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362496144 rs185808242	1313	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3605626 rs766508041	1313	P>T		No	ClinGen ExAC gnomAD
rs773779407 CA362496076	1317	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3605624 rs773779407	1317	G>R		No	ClinGen ExAC TOPMed gnomAD
CA133194091 rs142322370	1319	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3605622 rs145806915	1319	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM244558 rs142322370 CA3605623	1319	R>W	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs150279372 CA133194086	1320	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs115824945 CA3605620 COSM1579009	1320	R>Q	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs150279372 CA3605621	1320	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3605618 rs79620092	1321	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3605617 rs79620092	1321	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3605619 rs745546499	1321	R>W		No	ClinGen ExAC TOPMed gnomAD
CA133194062 rs200392269	1322	P>S		No	ClinGen 1000Genomes gnomAD
rs1403462657 CA362496000	1323	E>K		No	ClinGen gnomAD
RCV001539446 RCV000247350 CA3605611 rs307821	1324	R>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3605612 RCV001699275 rs307821 RCV000242364	1324	R>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3605613 rs307821	1324	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777755208 CA3605614	1324	R>W		No	ClinGen ExAC gnomAD
CA3605609 rs751807653	1325	G>R		No	ClinGen ExAC TOPMed gnomAD
rs766308772 CA3605608	1326	A>G		No	ClinGen ExAC
rs1180832689 CA362495953	1326	A>P		No	ClinGen gnomAD
rs758489407 CA3605606	1327	R>*		No	ClinGen ExAC gnomAD
CA362495933 rs747528649	1327	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3605605 rs747528649	1327	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1272923889 CA362495911	1329	G>D		No	ClinGen TOPMed gnomAD
rs765704568 CA3605604	1329	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1272923889 CA362495907	1329	G>V		No	ClinGen TOPMed gnomAD
CA3605603 rs762359092	1330	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA362495897 rs1581596674	1330	Q>R		No	ClinGen Ensembl
CA3605601 rs565053503	1332	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs759044121 CA3605600	1334	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3605598 rs201796032	1336	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1302188598 CA362495703	1338	G>A		No	ClinGen TOPMed
rs1434181369 CA362495670	1339	E>D		No	ClinGen gnomAD
CA362495690 rs1325967047	1339	E>K		No	ClinGen TOPMed
rs1458557842 CA362495639	1341	S>A		No	ClinGen gnomAD
CA3605596 rs772644486	1341	S>L		No	ClinGen ExAC gnomAD
CA133193961 rs1051858320	1342	E>A		No	ClinGen TOPMed gnomAD
CA362495599 rs1420141608	1343	P>T		No	ClinGen TOPMed gnomAD
CA362495571 rs748126753	1344	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3605593 rs781063816	1345	E>K		No	ClinGen ExAC TOPMed gnomAD
rs781063816 CA362495567	1345	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA362495547 rs746834315	1346	E>*		No	ClinGen ExAC TOPMed gnomAD
rs746834315 CA3605591	1346	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs201336964 CA3605588	1347	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs765327561 CA3605587	1347	D>E		No	ClinGen ExAC TOPMed gnomAD
rs765327561 CA133193930	1347	D>E		No	ClinGen ExAC TOPMed gnomAD
rs201336964 CA3605589	1347	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162533424 CA362495461	1350	S>C		No	ClinGen TOPMed
CA133193920 rs931921314	1350	S>P		No	ClinGen TOPMed
rs371358529 CA3605585	1351	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA133193911 rs201381663	1351	P>S		No	ClinGen Ensembl
CA3605583 rs761089407	1354	R>C		No	ClinGen ExAC TOPMed gnomAD
rs761089407 CA362495420	1354	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200835339 CA3605582	1354	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362495421 rs761089407	1354	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3605579 rs143739828	1355	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs913329032 CA133193881	1356	T>P		No	ClinGen TOPMed
rs1288288148 CA362495389	1356	T>S		No	ClinGen TOPMed
CA3605578 rs769432789	1357	F>S		No	ClinGen ExAC gnomAD
CA3605577 rs761781228	1359	T>I		No	ClinGen ExAC gnomAD
rs776692603 CA3605576	1361	N>S		No	ClinGen ExAC gnomAD
rs768540740 CA3605575	1363	Y>H		No	ClinGen ExAC gnomAD

4 associated diseases with P35916

[MIM: 153100]: Lymphatic malformation 1 (LMPHM1)

A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM1 is an autosomal dominant form with variable expression and severity. Onset is usually at birth or in early childhood but can occur later. Affected individuals manifest lymphedema, predominantly in the lower limbs, and hypoplasia of lymphatic vessels. Additional features are hemangioma and nail dysplasia or papillomatosis. {ECO:0000269|PubMed:10835628, ECO:0000269|PubMed:10856194, ECO:0000269|PubMed:12881528, ECO:0000269|PubMed:15102829, ECO:0000269|PubMed:16924388, ECO:0000269|PubMed:16965327, ECO:0000269|PubMed:17458866, ECO:0000269|PubMed:19289394, ECO:0000269|PubMed:26091405, ECO:0000269|PubMed:9817924}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 602089]: Hemangioma, capillary infantile (HCI)

A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. {ECO:0000269|PubMed:11807987}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 618780]: Congenital heart defects, multiple types, 7 (CHTD7)

An autosomal dominant disorder with incomplete penetrance characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, pulmonary stenosis or atresia, absent pulmonary valve, right aortic arch, double aortic arch, and major aortopulmonary collateral arteries. {ECO:0000269|PubMed:28991257, ECO:0000269|PubMed:30232381}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM1 is an autosomal dominant form with variable expression and severity. Onset is usually at birth or in early childhood but can occur later. Affected individuals manifest lymphedema, predominantly in the lower limbs, and hypoplasia of lymphatic vessels. Additional features are hemangioma and nail dysplasia or papillomatosis. {ECO:0000269|PubMed:10835628, ECO:0000269|PubMed:10856194, ECO:0000269|PubMed:12881528, ECO:0000269|PubMed:15102829, ECO:0000269|PubMed:16924388, ECO:0000269|PubMed:16965327, ECO:0000269|PubMed:17458866, ECO:0000269|PubMed:19289394, ECO:0000269|PubMed:26091405, ECO:0000269|PubMed:9817924}. Note=The disease is caused by variants affecting the gene represented in this entry.
A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. {ECO:0000269|PubMed:11807987}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
An autosomal dominant disorder with incomplete penetrance characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, pulmonary stenosis or atresia, absent pulmonary valve, right aortic arch, double aortic arch, and major aortopulmonary collateral arteries. {ECO:0000269|PubMed:28991257, ECO:0000269|PubMed:30232381}. Note=The disease is caused by variants affecting the gene represented in this entry.

11 regional properties for P35916

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	542 - 733	IPR000219
domain	FERM domain	40 - 320	IPR000299
domain	Pleckstrin homology domain	762 - 861	IPR001849-1
domain	Pleckstrin homology domain	935 - 1034	IPR001849-2
domain	FERM adjacent	328 - 374	IPR014847
domain	FERM, N-terminal	44 - 106	IPR018979
domain	FERM, C-terminal PH-like domain	234 - 324	IPR018980
conserved_site	FERM conserved site	94 - 123	IPR019747
domain	FERM central domain	125 - 230	IPR019748
domain	Band 4.1 domain	36 - 230	IPR019749
domain	FARP1/FARP2/FRMD7, FERM domain C-lobe	217 - 337	IPR041788

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Cytoplasm Nucleus	Ligand-mediated autophosphorylation leads to rapid internalization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
growth factor binding	Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein phosphatase binding	Binding to a protein phosphatase.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
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: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.
vascular endothelial growth factor-activated receptor activity	Combining with a vascular endothelial growth factor (VEGF) receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.

26 GO annotations of biological process

Name	Definition
blood vessel morphogenesis	The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood.
cellular response to vascular endothelial growth factor stimulus	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 vascular endothelial growth factor stimulus.
hematopoietic progenitor cell differentiation	The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.
lung alveolus development	The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways.
lymph vessel development	The process whose specific outcome is the progression of a lymph vessel over time, from its formation to the mature structure.
lymphangiogenesis	Lymph vessel formation when new vessels emerge from the proliferation of pre-existing vessels.
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 phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of endothelial cell migration	Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of protein kinase C signaling	Any process that increases the frequency, rate, or extent of a series of reactions, mediated by the intracellular serine/threonine kinase protein kinase C, which occurs as a result of a single trigger reaction or compound.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of vascular endothelial growth factor production	Any process that increases or activates the frequency, rate, or extent of production of vascular endothelial growth factor.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
regulation of blood vessel remodeling	Any process that modulates the rate, frequency or extent of blood vessel remodeling, the reorganization or renovation of existing blood vessels.
respiratory system process	A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange.
sprouting angiogenesis	The extension of new blood vessels from existing vessels into avascular tissues, this process includes the specialization of endothelial cells into leading tip and stalk cells, proliferation and migration of the endothelial cells and cell adhesion resulting in angiogenic sprout fusion or lumen formation.
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.
vascular endothelial growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
vascular endothelial growth factor signaling pathway	The series of molecular signals initiated by vascular endothelial growth factor (VEGF) binding its receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
vasculature development	The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism.

96 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43481	KIT	Mast/stem cell growth factor receptor Kit	Bos taurus (Bovine)	SS
Q06805	TIE1	Tyrosine-protein kinase receptor Tie-1	Bos taurus (Bovine)	PR
Q06807	TEK	Angiopoietin-1 receptor	Bos taurus (Bovine)	SS
Q28889	KIT	Mast/stem cell growth factor receptor Kit	Felis catus (Cat) (Felis silvestris catus)	SS
P13369	CSF1R	Macrophage colony-stimulating factor 1 receptor	Felis catus (Cat) (Felis silvestris catus)	SS
P18460	FGFR3	Fibroblast growth factor receptor 3	Gallus gallus (Chicken)	SS
P21804	FGFR1	Fibroblast growth factor receptor 1	Gallus gallus (Chicken)	SS
Q9PUF6	PDGFRA	Platelet-derived growth factor receptor alpha	Gallus gallus (Chicken)	SS
Q08156	KIT	Mast/stem cell growth factor receptor Kit	Gallus gallus (Chicken)	SS
Q8QHL3	FLT1	Vascular endothelial growth factor receptor 1	Gallus gallus (Chicken)	SS
P18461	FGFR2	Fibroblast growth factor receptor 2	Gallus gallus (Chicken)	SS
Q07407	htl	Fibroblast growth factor receptor homolog 1	Drosophila melanogaster (Fruit fly)	PR
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	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
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
P29376	LTK	Leukocyte tyrosine kinase receptor	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
Q03142	Fgfr4	Fibroblast growth factor receptor 4	Mus musculus (Mouse)	PR
P05532	Kit	Mast/stem cell growth factor receptor Kit	Mus musculus (Mouse)	PR
Q91V87	Fgfrl1	Fibroblast growth factor receptor-like 1	Mus musculus (Mouse)	PR
P05622	Pdgfrb	Platelet-derived growth factor receptor beta	Mus musculus (Mouse)	SS
P09581	Csf1r	Macrophage colony-stimulating factor 1 receptor	Mus musculus (Mouse)	SS
P35969	Flt1	Vascular endothelial growth factor receptor 1	Mus musculus (Mouse)	SS
P35546	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Mus musculus (Mouse)	SS
Q06806	Tie1	Tyrosine-protein kinase receptor Tie-1	Mus musculus (Mouse)	SS
Q00342	Flt3	Receptor-type tyrosine-protein kinase FLT3	Mus musculus (Mouse)	SS
Q6J9G1	Styk1	Tyrosine-protein kinase STYK1	Mus musculus (Mouse)	PR
P16092	Fgfr1	Fibroblast growth factor receptor 1	Mus musculus (Mouse)	SS
Q61851	Fgfr3	Fibroblast growth factor receptor 3	Mus musculus (Mouse)	PR
Q02858	Tek	Angiopoietin-1 receptor	Mus musculus (Mouse)	SS
P35918	Kdr	Vascular endothelial growth factor receptor 2	Mus musculus (Mouse)	PR
P21803	Fgfr2	Fibroblast growth factor receptor 2	Mus musculus (Mouse)	SS
P26618	Pdgfra	Platelet-derived growth factor receptor alpha	Mus musculus (Mouse)	SS
P35917	Flt4	Vascular endothelial growth factor receptor 3	Mus musculus (Mouse)	SS
Q2HWD6	KIT	Mast/stem cell growth factor receptor Kit	Sus scrofa (Pig)	SS
Q7TQM3	Fgfrl1	Fibroblast growth factor receptor-like 1	Rattus norvegicus (Rat)	PR
P53767	Flt1	Vascular endothelial growth factor receptor 1	Rattus norvegicus (Rat)	PR
P20786	Pdgfra	Platelet-derived growth factor receptor alpha	Rattus norvegicus (Rat)	SS
Q04589	Fgfr1	Fibroblast growth factor receptor 1	Rattus norvegicus (Rat)	SS
G3V9H8	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Rattus norvegicus (Rat)	SS
Q498D6	Fgfr4	Fibroblast growth factor receptor 4	Rattus norvegicus (Rat)	PR
Q05030	Pdgfrb	Platelet-derived growth factor receptor beta	Rattus norvegicus (Rat)	SS
O08775	Kdr	Vascular endothelial growth factor receptor 2	Rattus norvegicus (Rat)	SS
Q91ZT1	Flt4	Vascular endothelial growth factor receptor 3	Rattus norvegicus (Rat)	SS
Q17833	old-1	Tyrosine-protein kinase receptor old-1	Caenorhabditis elegans	PR
Q19238	F09A5.2	Putative tyrosine-protein kinase F09A5.2	Caenorhabditis elegans	SS
Q10656	egl-15	Myoblast growth factor receptor egl-15	Caenorhabditis elegans	PR
P34892	kin-16	Receptor-like tyrosine-protein kinase kin-16	Caenorhabditis elegans	PR
G5ED65	ver-1	Protein ver-1	Caenorhabditis elegans	PR
Q8AXB3	kdrl	Vascular endothelial growth factor receptor kdr-like	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5GIT4	kdr	Vascular endothelial growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73791	tek	Angiopoietin-1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90Z00	fgfr1a	Fibroblast growth factor receptor 1-A	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JG38	fgfr2	Fibroblast growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9I8N6	csf1r	Macrophage colony-stimulating factor 1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90413	fgfr4	Fibroblast growth factor receptor 4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9DE49	pdgfra	Platelet-derived growth factor receptor alpha	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JFR5	kita	Mast/stem cell growth factor receptor kita	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5MD89	flt4	Vascular endothelial growth factor receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MQRGAALCLR	LWLCLGLLDG	LVSGYSMTPP	TLNITEESHV	IDTGDSLSIS	CRGQHPLEWA
70	80	90	100	110	120
WPGAQEAPAT	GDKDSEDTGV	VRDCEGTDAR	PYCKVLLLHE	VHANDTGSYV	CYYKYIKARI
130	140	150	160	170	180
EGTTAASSYV	FVRDFEQPFI	NKPDTLLVNR	KDAMWVPCLV	SIPGLNVTLR	SQSSVLWPDG
190	200	210	220	230	240
QEVVWDDRRG	MLVSTPLLHD	ALYLQCETTW	GDQDFLSNPF	LVHITGNELY	DIQLLPRKSL
250	260	270	280	290	300
ELLVGEKLVL	NCTVWAEFNS	GVTFDWDYPG	KQAERGKWVP	ERRSQQTHTE	LSSILTIHNV
310	320	330	340	350	360
SQHDLGSYVC	KANNGIQRFR	ESTEVIVHEN	PFISVEWLKG	PILEATAGDE	LVKLPVKLAA
370	380	390	400	410	420
YPPPEFQWYK	DGKALSGRHS	PHALVLKEVT	EASTGTYTLA	LWNSAAGLRR	NISLELVVNV
430	440	450	460	470	480
PPQIHEKEAS	SPSIYSRHSR	QALTCTAYGV	PLPLSIQWHW	RPWTPCKMFA	QRSLRRRQQQ
490	500	510	520	530	540
DLMPQCRDWR	AVTTQDAVNP	IESLDTWTEF	VEGKNKTVSK	LVIQNANVSA	MYKCVVSNKV
550	560	570	580	590	600
GQDERLIYFY	VTTIPDGFTI	ESKPSEELLE	GQPVLLSCQA	DSYKYEHLRW	YRLNLSTLHD
610	620	630	640	650	660
AHGNPLLLDC	KNVHLFATPL	AASLEEVAPG	ARHATLSLSI	PRVAPEHEGH	YVCEVQDRRS
670	680	690	700	710	720
HDKHCHKKYL	SVQALEAPRL	TQNLTDLLVN	VSDSLEMQCL	VAGAHAPSIV	WYKDERLLEE
730	740	750	760	770	780
KSGVDLADSN	QKLSIQRVRE	EDAGRYLCSV	CNAKGCVNSS	ASVAVEGSED	KGSMEIVILV
790	800	810	820	830	840
GTGVIAVFFW	VLLLLIFCNM	RRPAHADIKT	GYLSIIMDPG	EVPLEEQCEY	LSYDASQWEF
850	860	870	880	890	900
PRERLHLGRV	LGYGAFGKVV	EASAFGIHKG	SSCDTVAVKM	LKEGATASEH	RALMSELKIL
910	920	930	940	950	960
IHIGNHLNVV	NLLGACTKPQ	GPLMVIVEFC	KYGNLSNFLR	AKRDAFSPCA	EKSPEQRGRF
970	980	990	1000	1010	1020
RAMVELARLD	RRRPGSSDRV	LFARFSKTEG	GARRASPDQE	AEDLWLSPLT	MEDLVCYSFQ
1030	1040	1050	1060	1070	1080
VARGMEFLAS	RKCIHRDLAA	RNILLSESDV	VKICDFGLAR	DIYKDPDYVR	KGSARLPLKW
1090	1100	1110	1120	1130	1140
MAPESIFDKV	YTTQSDVWSF	GVLLWEIFSL	GASPYPGVQI	NEEFCQRLRD	GTRMRAPELA
1150	1160	1170	1180	1190	1200
TPAIRRIMLN	CWSGDPKARP	AFSELVEILG	DLLQGRGLQE	EEEVCMAPRS	SQSSEEGSFS
1210	1220	1230	1240	1250	1260
QVSTMALHIA	QADAEDSPPS	LQRHSLAARY	YNWVSFPGCL	ARGAETRGSS	RMKTFEEFPM
1270	1280	1290	1300	1310	1320
TPTTYKGSVD	NQTDSGMVLA	SEEFEQIESR	HRQESGFSCK	GPGQNVAVTR	AHPDSQGRRR
1330	1340	1350	1360
RPERGARGGQ	VFYNSEYGEL	SEPSEEDHCS	PSARVTFFTD	NSY