AiPD: Autoinhibited Protein Database

Q15303

Gene name	ERBB4 (HER4)
Protein name	Receptor tyrosine-protein kinase erbB-4
Names	Metastatic lymph node gene 19 protein, MLN 19, Proto-oncogene Neu, Proto-oncogene c-ErbB-2, Tyrosine kinase-type cell surface receptor HER2, p185erbB2, Proto-oncogene Neu, Proto-oncogene c-ErbB-2, p185erbB2, Proto-oncogene-like protein c-ErbB-4, Tyrosine kinase-type cell surface receptor HER4, p180erbB4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2066
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

Erbb4 is a receptor tyrosine protein kinase playing critical roles in regulating cell proliferation, differentiation, and migration. The potential autoinhibitory regions were predicted by sequence similarity with human EGFR (P00533).

Autoinhibitory domains (AIDs)

479-615 (Domain IV) SS

Target domain	165-306 (Domain II)
Relief mechanism	Partner binding, PTM
Assay

AID

479-615 (Domain IV)

Target domain

165-306 (Domain II)

Relief mechanism

Partner binding (EGF binding to domain I), PTM (Deglycosylation of Asn residue within subdomain IV or glycosylation of Asn residues within domain II)

Assay

Accessory elements

860-885 (Activation loop from InterPro)

Target domain	718-985 (Protein kinase domain)
Relief mechanism
Assay

References

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

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

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

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

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

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

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

11 structures for Q15303

Entry ID	Method	Resolution	Chain	Position	Source
2AHX	X-ray	240 A	A/B	26-641	PDB
2L2T	NMR	-	A/B	642-685	PDB
2LCX	NMR	-	A/B	642-685	PDB
2R4B	X-ray	240 A	A/B	690-999	PDB
3BBT	X-ray	280 A	B/D	702-1029	PDB
3BBW	X-ray	400 A	A/B	702-1029	PDB
3BCE	X-ray	250 A	A/B/C	702-1029	PDB
3U2P	X-ray	257 A	A	26-522	PDB
3U7U	X-ray	303 A	A/B/C/D/E/F	26-640	PDB
3U9U	X-ray	342 A	E/F	26-650	PDB
AF-Q15303-F1	Predicted				AlphaFoldDB

939 variants for Q15303

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1553563398 RCV000623142	39	L>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001095444 rs756650586 CA2088510	53	Y>C	Amyotrophic lateral sclerosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs754487821 CA2088466 RCV001095485	103	R>H	Amyotrophic lateral sclerosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs757597004 CA2088362 RCV001095445	219	G>S	Amyotrophic lateral sclerosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1575051224 CA350444510 RCV000791313	262	C>Y	NK-cell enteropathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs267599193 CA16602255 RCV000435571	317	E>K	Melanoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs55671017 COSM131766 CA16602627 RCV000424857	393	R>W	Melanoma skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA16602262 COSM131768 rs202247795 RCV000443453	452	E>K	Melanoma skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA2088066 RCV000431732 COSM131770 rs535202189	542	E>K	Melanoma skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM131771 CA16602254 rs267599192 RCV000422332	544	R>W	Melanoma skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001332583 COSM1172842 rs374970657 CA2087830	731	T>M	oesophagus Amyotrophic lateral sclerosis type 19 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000987001 CA350781785 rs1574867228	736	I>N	Amyotrophic lateral sclerosis type 19 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM209854 rs369248674 RCV001095443 CA2087706	840	V>I	large_intestine Amyotrophic lateral sclerosis [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs776347334 CA2087690 COSM94231 RCV000444455	872	E>K	lung Melanoma skin [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
VAR_070810 RCV000074382 CA216500 rs397514262 RCV000054812	927	R>Q	Amyotrophic lateral sclerosis type 19 ALS19; reduces autophosphorylation upon NRG1 stimulation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA2087514 rs373685875 RCV001260200	1059	M>T	Amyotrophic lateral sclerosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2087467 RCV001856284 rs144311212 RCV001095390	1112	R>C	Amyotrophic lateral sclerosis type 19 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001260557 CA2087361 rs371332509	1272	G>R	Amyotrophic lateral sclerosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV000054813 rs397514263 RCV000074383 CA216502 VAR_070811	1275	R>W	Amyotrophic lateral sclerosis type 19 ALS19; reduces autophosphorylation upon NRG1 stimulation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs772612441 CA2088632	3	P>L		No	ClinGen ExAC gnomAD
CA65260119 rs868365105	3	P>S		No	ClinGen Ensembl
CA2088631 rs748663394	4	A>E		No	ClinGen ExAC TOPMed gnomAD
rs376416471 CA2088629	5	T>A		No	ClinGen ESP ExAC gnomAD
rs1575106378 CA350784030	9	V>D		No	ClinGen Ensembl
rs749688150 CA2088628	12	S>C		No	ClinGen ExAC TOPMed
rs755858938 CA2088626	12	S>I		No	ClinGen ExAC TOPMed gnomAD
rs755858938 CA2088627	12	S>N		No	ClinGen ExAC TOPMed gnomAD
CA350784008 rs1478394764	12	S>R		No	ClinGen TOPMed gnomAD
rs1478394764 CA350784009	12	S>R		No	ClinGen TOPMed gnomAD
rs749917244 CA2088625	13	L>V		No	ClinGen ExAC gnomAD
CA2088622 rs751515664	15	V>L		No	ClinGen ExAC gnomAD
rs1297962291 CA350783986 COSM1251443	16	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
CA350783981 rs201202926	17	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2088621 rs201202926	17	A>V		No	ClinGen ExAC TOPMed gnomAD
rs762676889 CA2088620	18	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1222629052 CA350783974	19	T>A		No	ClinGen Ensembl
rs373308672 CA2088617	20	V>F		No	ClinGen ESP ExAC gnomAD
COSM1205588 CA2088616 rs373308672	20	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA2088615 rs2229091	21	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350783954 rs1300045748	22	P>L		No	ClinGen TOPMed
CA65260117 rs930144500	22	P>S		No	ClinGen gnomAD
CA65260116 rs918972978	23	S>N		No	ClinGen Ensembl
CA350783947 rs1407234754	23	S>R		No	ClinGen gnomAD
rs774666639 CA350783945	24	D>H		No	ClinGen ExAC TOPMed gnomAD
rs774666639 CA2088613	24	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1370453674 CA350783932	26	Q>E		No	ClinGen Ensembl
rs749626683 CA2088611	26	Q>R		No	ClinGen ExAC gnomAD
CA350783865 rs1463950609 COSM3695245	32	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1176455587 CA350783821	39	L>I		No	ClinGen gnomAD
CA65210773 rs965744501	43	E>K		No	ClinGen TOPMed gnomAD
CA350783796 rs965744501	43	E>Q		No	ClinGen TOPMed gnomAD
rs772401914 CA2088516	47	R>*		No	ClinGen ExAC gnomAD
CA2088515 rs748447524	47	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1251265863 CA350783753	49	L>S		No	ClinGen gnomAD
rs372631205 CA2088514	50	R>C		No	ClinGen 1000Genomes ESP ExAC gnomAD
COSM1016002 CA2088513 rs755026855	50	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA350783746 rs755026855	50	R>L		No	ClinGen ExAC TOPMed gnomAD
CA350783718 rs1559544105	54	E>G		No	ClinGen Ensembl
CA539383739 rs1334167791	56	C>*		No	ClinGen TOPMed gnomAD
CA2088509 rs545249326	58	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA350783673 rs1443958987	60	M>I		No	ClinGen TOPMed gnomAD
CA350783671 rs1443958987	60	M>I		No	ClinGen TOPMed gnomAD
CA350783669 rs1413385805	61	G>R		No	ClinGen gnomAD
rs767922354 CA2088508	62	N>S		No	ClinGen ExAC TOPMed gnomAD
rs756903297 CA350783623	68	I>L		No	ClinGen ExAC TOPMed gnomAD
CA350783620 rs1449456462	68	I>T		No	ClinGen TOPMed
rs756903297 CA2088507	68	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1467383739 CA350783608	69	E>D		No	ClinGen gnomAD
CA350783601 rs1357270265	70	H>D		No	ClinGen gnomAD
rs751161112 CA2088506	70	H>R		No	ClinGen ExAC gnomAD
rs1357270265 CA350783599	70	H>Y		No	ClinGen gnomAD
CA2088505 rs368312588	71	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2088504 rs762478821	72	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1381185503 CA350783573	72	R>W		No	ClinGen TOPMed gnomAD
rs774895831 CA2088503	73	D>G		No	ClinGen ExAC gnomAD
CA350783567 rs1396545045	73	D>H		No	ClinGen Ensembl
rs1201600413 CA350783555	74	L>I		No	ClinGen gnomAD
rs765191737 CA2088502 COSM1405192	75	S>F	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA350783509 rs1254576147	78	R>Q		No	ClinGen gnomAD
rs1277144029 CA350783510	78	R>W		No	ClinGen TOPMed
rs772917832 CA2088479	81	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768898089 CA2088478	83	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1380689506 CA350782440	86	Y>C		No	ClinGen gnomAD
CA2088477 rs763138791	86	Y>H		No	ClinGen ExAC gnomAD
CA2088475 rs143662416	87	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA350782436 rs143662416	87	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2088474 rs143662416	87	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs201678258 CA2088473	90	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771461282 CA2088472	93	Q>R		No	ClinGen ExAC gnomAD
rs569995088 CA2088471	95	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2088470 rs778048381	95	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758055886 CA2088469	96	Y>S		No	ClinGen ExAC gnomAD
CA2088468 rs752223901	98	P>S		No	ClinGen ExAC gnomAD
CA65189274 rs867349679	100	E>*		No	ClinGen Ensembl
COSM719370 rs201152419 CA2088467	103	R>C	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA350782329 rs1351254871	104	I>V		No	ClinGen gnomAD
rs1009365374 CA65189273	105	I>V		No	ClinGen TOPMed
CA65189272 rs751175543 COSM1205582	106	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM1405191 CA65189271 rs991337964	106	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1397785905 CA350782309	107	G>E		No	ClinGen TOPMed
rs1372768089 CA350782290	110	L>F		No	ClinGen TOPMed
rs760575423 COSM131763 CA2088463	111	Y>H	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1226469223 CA350782279	112	E>K		No	ClinGen gnomAD
rs1324497284 CA350782266	113	D>V		No	ClinGen gnomAD
CA2088461 rs767277487 COSM1405190	114	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA65189269 rs967694221	115	Y>S		No	ClinGen Ensembl
rs1384965528 CA350782252	116	A>T		No	ClinGen gnomAD
CA65189268 rs763687948	117	L>F		No	ClinGen gnomAD
rs761676413 CA2088460	119	I>T		No	ClinGen ExAC gnomAD
CA350782228 rs1466537149	120	F>L		No	ClinGen gnomAD
rs943287714 CA65189267	123	Y>C		No	ClinGen TOPMed gnomAD
rs770028143 CA2088458	124	R>K		No	ClinGen ExAC gnomAD
CA65189266 rs953144117	126	D>N		No	ClinGen gnomAD
CA2088457 rs150757966	128	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452020002 CA350782095	128	N>K		No	ClinGen gnomAD
CA350782097 rs1452020002	128	N>K		No	ClinGen gnomAD
rs776734324 CA2088456	129	F>S		No	ClinGen ExAC gnomAD
rs192066345 CA2088455	131	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1575419937 CA350782042	133	E>K		No	ClinGen Ensembl
rs867148133 CA65189265	135	G>E		No	ClinGen Ensembl
CA350782011 rs1559162521	135	G>R		No	ClinGen Ensembl
CA2088454 rs566211797	137	K>R		No	ClinGen ExAC gnomAD
CA350443366 rs1368944567	141	E>G		No	ClinGen TOPMed
CA350443358 rs1240937160	142	I>L		No	ClinGen gnomAD
CA350443343 rs1375692246	143	L>I		No	ClinGen gnomAD
rs772663811 CA2088432	144	N>S		No	ClinGen ExAC gnomAD
rs1330628617 CA350443305	146	G>R		No	ClinGen TOPMed
CA350443306 rs1330628617	146	G>R		No	ClinGen TOPMed
CA350443295 rs1360319606	147	V>I		No	ClinGen gnomAD
CA2088431 rs748490399	148	Y>C		No	ClinGen ExAC gnomAD
CA350443281 rs1341604623	148	Y>H		No	ClinGen gnomAD
rs1575149263 CA350443262	149	V>A		No	ClinGen Ensembl
rs1374439919 CA350443256	150	D>H		No	ClinGen TOPMed gnomAD
rs1374439919 CA350443253	150	D>Y		No	ClinGen TOPMed gnomAD
CA350443236 rs768943270	151	Q>H		No	ClinGen ExAC gnomAD
CA350443230 rs1420986672	152	N>S		No	ClinGen gnomAD
rs370840578 CA2088426	158	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2088427 rs375361752	158	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2088424 rs780954188	162	H>Y		No	ClinGen ExAC gnomAD
CA2088423 rs757262177	167	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2088421 rs200302763	168	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2088422 COSM232262 rs138433638	168	R>W	large_intestine endometrium skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2088420 rs755189072	169	N>S		No	ClinGen ExAC gnomAD
rs1223312722 CA350443109	170	P>S		No	ClinGen TOPMed gnomAD
CA2088419 rs375307182	172	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575149118 CA350443076	174	N>K		No	ClinGen Ensembl
rs1295693295 CA350443080	174	N>S		No	ClinGen gnomAD
CA64764602 rs552719500	177	L>H		No	ClinGen Ensembl
CA350443061 rs1355303125	177	L>V		No	ClinGen gnomAD
rs1473875182 CA350443050	179	S>P		No	ClinGen TOPMed
COSM719372 rs78887537 CA64764597	180	T>A	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1432387526 CA350443041	180	T>I		No	ClinGen TOPMed gnomAD
CA350443021 rs1343098040	183	S>I		No	ClinGen gnomAD
CA2088417 COSM3838522 rs760630823	184	S>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs773380410 CA2088416	185	G>E		No	ClinGen ExAC TOPMed gnomAD
CA350443013 rs1415848981	185	G>R		No	ClinGen TOPMed gnomAD
rs773380410 CA350443009	185	G>V		No	ClinGen ExAC TOPMed gnomAD
rs752051535 CA2088395	188	R>C		No	ClinGen ExAC gnomAD
rs191386517 CA2088394	188	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1372741004 CA350442124	189	C>S		No	ClinGen gnomAD
CA2088393 COSM1494763 rs763374665	190	H>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1164711560 CA350442106	191	K>T		No	ClinGen TOPMed gnomAD
CA64740324 rs540532321	192	S>Y		No	ClinGen 1000Genomes
rs775966683 CA2088392	194	T>A		No	ClinGen ExAC gnomAD
CA2088391 rs769311799	196	R>C		No	ClinGen ExAC gnomAD
CA2088390 rs369165560	196	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs921054446 CA64740300	197	C>F		No	ClinGen Ensembl
CA350442060 rs1460261552	198	W>*		No	ClinGen gnomAD
rs776002120 CA2088389	199	G>R		No	ClinGen ExAC gnomAD
rs1254941377 CA350444966	209	T>K		No	ClinGen gnomAD
CA2088369 rs552079714	209	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1209788009 CA350444963	210	R>G		No	ClinGen gnomAD
COSM1530586 rs771486473 CA2088368	211	T>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA350444947 rs1452281284	212	V>A		No	ClinGen TOPMed
rs148992844 CA2088365	215	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2088363 rs781528015	218	D>E		No	ClinGen ExAC TOPMed gnomAD
rs890173173 CA64769575	218	D>G		No	ClinGen TOPMed
rs751669855 CA350444899	219	G>D		No	ClinGen ExAC gnomAD
rs751669855 CA2088361	219	G>V		No	ClinGen ExAC gnomAD
rs758827443 CA2088359	223	G>R		No	ClinGen ExAC TOPMed gnomAD
CA350444865 rs1451769238	224	P>L		No	ClinGen gnomAD
CA2088358 rs561236916 COSM1405185	226	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs993251302 CA64769532	231	H>Y		No	ClinGen TOPMed
CA350444810 rs1476386458	232	R>Q		No	ClinGen gnomAD
CA350444782 rs1293263605	236	G>A		No	ClinGen TOPMed gnomAD
CA350444780 rs1293263605	236	G>V		No	ClinGen TOPMed gnomAD
CA64769510 rs773719625	237	G>C		No	ClinGen Ensembl
rs765677105 CA2088357	241	P>L		No	ClinGen ExAC gnomAD
rs866956005 CA64769508	243	D>N		No	ClinGen Ensembl
rs376200174 COSM1405184 CA64769500	244	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
RCV001091192 rs754193308 CA2088355 COSM1405183	244	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs376200174 CA64769489	244	T>S		No	ClinGen gnomAD
CA64769481 rs1002919319	247	F>V		No	ClinGen Ensembl
rs537320227 CA2088330	248	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA64767426 COSM1015996 rs868149408	250	M>I	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA350444680 rs1374562056	250	M>K		No	ClinGen TOPMed
CA350444658 rs1553618333	253	N>H		No	ClinGen Ensembl
rs955001138 CA64767422	253	N>S		No	ClinGen TOPMed gnomAD
rs1443253742 CA350444607	256	G>R		No	ClinGen gnomAD
rs1369404254 CA350444593	257	A>T		No	ClinGen gnomAD
rs762860349 CA2088327	263	P>S		No	ClinGen ExAC gnomAD
CA64767398 rs149800322	266	F>C		No	ClinGen ESP TOPMed gnomAD
CA350444444 rs149800322	266	F>S		No	ClinGen ESP TOPMed gnomAD
COSM209862 CA2088325 rs769647599	268	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA64767396 rs911031567	270	P>L		No	ClinGen TOPMed
CA64767395 rs541322231	271	T>I		No	ClinGen gnomAD
rs1233353155 CA350444316	275	L>M		No	ClinGen TOPMed
rs201872526 CA2088323	276	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA64767385 rs201872526	276	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350444284 rs1176565405	277	H>Q		No	ClinGen TOPMed
CA350444272 rs1254584225 COSM3838518	278	N>S	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1456943317 CA350444218	281	A>V		No	ClinGen gnomAD
rs1006263017 CA350444182	284	T>A		No	ClinGen gnomAD
CA64767367 rs1006263017	284	T>P		No	ClinGen gnomAD
rs1424618695 CA350444170	285	Y>H		No	ClinGen Ensembl
rs1225001174 CA350444133	287	A>V		No	ClinGen gnomAD
rs879162962 CA64767366	288	F>L		No	ClinGen TOPMed
rs1170487579 CA350444096	290	V>I		No	ClinGen TOPMed
rs1419687106 CA350443874	295	H>L		No	ClinGen gnomAD
rs74898139 CA2088317 COSM99061	295	H>Y	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA64760282 rs878956503	297	F>L		No	ClinGen TOPMed
rs1225338298 CA350443845	299	V>G		No	ClinGen TOPMed
CA350443827 rs1185560415	302	S>I		No	ClinGen gnomAD
rs1484791833 CA350443818	303	S>F		No	ClinGen TOPMed gnomAD
CA350443800 COSM1306390 rs1216559792	306	R>C	large_intestine urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA350443799 rs1448870993	306	R>H		No	ClinGen gnomAD
rs1216559792 CA350443802 COSM48366	306	R>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs751110565 CA2088289	307	A>V		No	ClinGen ExAC gnomAD
rs1575033848 CA350443781	309	P>S		No	ClinGen Ensembl
rs1377345647 CA350443777	310	S>G		No	ClinGen gnomAD
CA350443751 rs1295442878	313	M>T		No	ClinGen gnomAD
CA2088287 rs757933961	315	V>A		No	ClinGen ExAC TOPMed gnomAD
rs944175943 CA64760237	316	E>K		No	ClinGen Ensembl
CA350443715 rs1559447790	318	N>S		No	ClinGen Ensembl
rs1319320879 CA350443709 COSM272140	319	G>E	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2088284 rs759603522	319	G>R		No	ClinGen ExAC TOPMed gnomAD
CA64760225 rs759603522	319	G>R		No	ClinGen ExAC TOPMed gnomAD
CA350443706 rs1575033724	320	I>V		No	ClinGen Ensembl
CA2088282 rs766020827	322	M>I		No	ClinGen ExAC TOPMed gnomAD
CA350443663 rs1162491783	325	P>L		No	ClinGen gnomAD
rs1438854685 CA350443656	326	C>*		No	ClinGen Ensembl
rs774383857 CA2088280	328	D>G		No	ClinGen ExAC gnomAD
CA2088279 rs768893584	333	A>S		No	ClinGen ExAC gnomAD
CA64759248 rs866948313	336	G>V		No	ClinGen gnomAD
CA350443572 rs1184477882	337	I>V		No	ClinGen TOPMed
COSM110095 rs148183215 CA64759238	341	S>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1001418624 CA64759231	343	M>T		No	ClinGen TOPMed
rs771844988 CA2088252	346	Q>R		No	ClinGen ExAC gnomAD
CA2088250 rs778721557	347	T>S		No	ClinGen ExAC gnomAD
rs921053875 CA64759185	353	I>V		No	ClinGen TOPMed
rs748858562 CA2088248	355	K>N		No	ClinGen ExAC gnomAD
CA2088245 rs767369850	357	I>M		No	ClinGen ExAC TOPMed gnomAD
rs374243191 CA2088246	357	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779819962 CA2088247	357	I>V		No	ClinGen ExAC gnomAD
rs1431179590 CA350443432	358	N>S		No	ClinGen TOPMed
CA2088242 rs528780505	362	I>N		No	ClinGen 1000Genomes ExAC gnomAD
rs759496109 CA2088241	366	L>M		No	ClinGen ExAC gnomAD
rs759496109 CA2088240	366	L>V		No	ClinGen ExAC gnomAD
CA350443365 rs1211071018	367	I>V		No	ClinGen gnomAD
CA350443307 rs1317408332	371	T>I		No	ClinGen gnomAD
rs1317408332 CA350443311	371	T>N		No	ClinGen gnomAD
CA64759159 rs878984517	374	H>N		No	ClinGen Ensembl
CA2088236 rs76603692	374	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350442985 rs1575018847	376	D>A		No	ClinGen Ensembl
rs530702994 CA2088219	377	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs750910473 CA2088218	377	P>R		No	ClinGen ExAC gnomAD
CA350442975 rs1457790169	378	Y>H		No	ClinGen TOPMed
rs768169870 CA2088217	379	N>S		No	ClinGen ExAC TOPMed gnomAD
rs760614876 CA2088215	381	I>V		No	ClinGen ExAC TOPMed gnomAD
rs138476466 CA350442935	384	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138476466 CA2088214	384	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA350442926 rs1339591983	385	D>V		No	ClinGen TOPMed
CA350442918 rs1366336180	386	P>L		No	ClinGen gnomAD
CA350442921 rs762730624	386	P>S		No	ClinGen ExAC TOPMed gnomAD
rs762730624 CA2088213	386	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2088209 rs781071795	391	V>A		No	ClinGen ExAC gnomAD
rs745408040 CA2088211	391	V>F		No	ClinGen ExAC TOPMed gnomAD
CA2088210 rs745408040	391	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746784831 CA2088207	393	R>Q		No	ClinGen ExAC gnomAD
rs755152819 CA2088205	394	T>A		No	ClinGen ExAC gnomAD
CA64754555 rs879022901	394	T>K		No	ClinGen Ensembl
rs1186772138 CA350442870	395	V>I		No	ClinGen TOPMed gnomAD
CA2088204 rs368876919	396	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780160217 CA2088203	398	I>V		No	ClinGen ExAC gnomAD
CA2088184 rs780292324	402	L>V		No	ClinGen ExAC gnomAD
rs1443693721 CA350442799	404	I>V		No	ClinGen TOPMed gnomAD
CA350442790 rs1329892982	405	Q>P		No	ClinGen gnomAD
rs745926169 CA2088182	409	P>A		No	ClinGen ExAC gnomAD
rs868543170 CA64753586 COSM131767	409	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1305872553 CA350442758	410	N>Y		No	ClinGen gnomAD
rs1194591695 CA350442730	413	D>E		No	ClinGen Ensembl
CA350442728 rs1428712079	414	F>L		No	ClinGen gnomAD
rs1008075634 CA64753570	415	S>R		No	ClinGen TOPMed gnomAD
CA2088180 rs757414582	416	V>I		No	ClinGen ExAC TOPMed gnomAD
CA350442702 rs1456291731	417	F>L		No	ClinGen gnomAD
rs1377040748 CA350442666	423	I>T		No	ClinGen gnomAD
rs1182226451 CA350442649	426	R>K		No	ClinGen gnomAD
rs764535094 CA2088178	428	L>P		No	ClinGen ExAC gnomAD
CA350442621 rs1482866370	430	S>T		No	ClinGen gnomAD
CA2088152 rs370646276	440	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2088151 rs749949478	440	Q>R		No	ClinGen ExAC gnomAD
rs1418847829 CA350442522	443	T>I		No	ClinGen gnomAD
CA350442519 rs1183752735	444	S>A		No	ClinGen gnomAD
rs1466611295 CA350442490	448	Q>R		No	ClinGen gnomAD
CA2088148 rs200092686	453	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs770782797 CA350442446	454	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1229780730 CA350442449	454	S>T		No	ClinGen gnomAD
rs762866612 CA350442444	455	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2088146 rs762866612	455	A>T		No	ClinGen ExAC TOPMed gnomAD
CA350442441 rs1292474603	455	A>V		No	ClinGen gnomAD
CA64751937 rs949099086	459	Y>C		No	ClinGen Ensembl
CA2088144 rs747093464	460	I>L		No	ClinGen ExAC gnomAD
CA2088143 rs747093464	460	I>V		No	ClinGen ExAC gnomAD
rs1194699434 COSM1205581 CA350442406	461	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1270242100 CA350442403	461	T>S		No	ClinGen gnomAD
CA350442395 rs1423649982	462	D>E		No	ClinGen TOPMed
rs1436708940 CA350442378	464	S>R		No	ClinGen gnomAD
rs200755699 CA2088142	465	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2088140 rs201156609	469	Y>C		No	ClinGen 1000Genomes ExAC
rs149168827 CA2088138	472	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754240931 CA2088137	476	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2088136 rs779654769	476	T>I		No	ClinGen ExAC gnomAD
rs1168543522 CA350442278	479	S>N		No	ClinGen gnomAD
rs368860175 CA2088133	481	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761398233 CA2088132	482	N>S		No	ClinGen ExAC gnomAD
rs959924017 COSM1691940 CA64751871	484	R>K	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs959924017 CA350442244	484	R>T		No	ClinGen TOPMed gnomAD
rs925440223 CA64751859	486	V>A		No	ClinGen TOPMed gnomAD
CA2088129 rs762812065	488	R>Q		No	ClinGen ExAC gnomAD
rs1229970702 COSM1205583 CA350442220	488	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs775475247 CA2088128	492	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1289996195 CA350441979	497	T>S		No	ClinGen TOPMed gnomAD
rs764878032 CA2088109	498	A>S		No	ClinGen ExAC gnomAD
CA64735358 rs996579225	501	M>V		No	ClinGen Ensembl
CA64735355 rs953922919	502	V>A		No	ClinGen TOPMed
CA2088108 rs759391678	505	H>L		No	ClinGen ExAC gnomAD
CA350441926 rs759391678	505	H>P		No	ClinGen ExAC gnomAD
rs1440849527 CA350441912	507	C>F		No	ClinGen TOPMed
rs376154931 CA350441899	509	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376154931 CA2088107	509	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA350441896 rs1361402584	510	D>N		No	ClinGen gnomAD
CA64735324 rs879245160	512	C>W		No	ClinGen TOPMed gnomAD
rs767818461 CA2088106	516	G>E		No	ClinGen ExAC gnomAD
rs1184830913 CA350441844	517	P>L		No	ClinGen gnomAD
rs1184830913 CA350441845	517	P>R		No	ClinGen gnomAD
rs900546126 CA64735304 COSM1015983	518	D>G	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA350441819 rs1273284407	521	L>V		No	ClinGen TOPMed gnomAD
rs761773013 CA2088105	522	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2088103 rs771154734	524	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2088102 rs371593463	524	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2088101 rs775988789	525	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770003740 CA2088100	525	R>H		No	ClinGen ExAC TOPMed gnomAD
rs746277222 CA2088099	529	G>*		No	ClinGen ExAC
CA350441766 rs1269741186	530	R>G		No	ClinGen gnomAD
CA64735257 rs554040068	531	I>V		No	ClinGen 1000Genomes
rs1226387750 CA539130671	532	C>*		No	ClinGen gnomAD
rs1046844409 CA64735237	533	I>T		No	ClinGen Ensembl
CA2088098 rs780678450	533	I>V		No	ClinGen ExAC gnomAD
CA2088097 rs756983861	534	E>D		No	ClinGen ExAC
rs1004231259 COSM573360 CA64735235	534	E>Q	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA350441732 rs1448845191	535	S>A		No	ClinGen gnomAD
rs879084289 CA64735226	535	S>C		No	ClinGen TOPMed
rs879211730 CA64735221	537	N>I		No	ClinGen Ensembl
rs746505492 CA2088096	538	L>I		No	ClinGen ExAC gnomAD
rs1396831096 CA350441706	539	Y>C		No	ClinGen TOPMed gnomAD
CA64735215 rs929827430	539	Y>H		No	ClinGen Ensembl
rs1396831096 CA350441707	539	Y>S		No	ClinGen TOPMed gnomAD
rs878906416 CA64735207	540	D>A		No	ClinGen TOPMed
COSM1015981 CA64735209 rs866138670	540	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA350441694 rs1301195133	541	G>C		No	ClinGen gnomAD
CA64735205 rs769734905	541	G>D		No	ClinGen TOPMed
rs141594820 CA2088065	543	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs777013174 CA2088064	544	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2088062 rs761145883	547	E>D		No	ClinGen ExAC gnomAD
rs1306021554 CA350783508	548	N>S		No	ClinGen TOPMed
rs1225202423 CA350783497	549	G>S		No	ClinGen TOPMed
CA2088061 rs772962110	549	G>V		No	ClinGen ExAC gnomAD
CA2088060 rs771898021	550	S>F		No	ClinGen ExAC gnomAD
CA350783483 rs1342871288	551	I>L		No	ClinGen gnomAD
CA350783465 rs1200032972	553	V>G		No	ClinGen gnomAD
rs200112693 CA65172150	554	E>D		No	ClinGen TOPMed gnomAD
rs1322856972 CA350783459	554	E>V		No	ClinGen TOPMed
rs376669939 CA65172149	556	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs376669939 CA2088059	556	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs771809161 CA2088057	557	P>S		No	ClinGen ExAC TOPMed gnomAD
CA65172148 rs374852421	560	E>D		No	ClinGen ESP TOPMed gnomAD
CA65172147 rs879496110	562	M>L		No	ClinGen Ensembl
CA65172146 rs888306863	562	M>T		No	ClinGen TOPMed gnomAD
CA65172145 rs146197533 COSM107205	563	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs755861643 CA2088054	565	G>D		No	ClinGen ExAC gnomAD
rs750257662 CA2088053	566	L>F		No	ClinGen ExAC gnomAD
CA2088052 rs777951183 COSM353100	567	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2088050 rs147639134	570	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2088051 rs758679160	570	H>Y		No	ClinGen ExAC
CA65172144 rs878861872	571	G>A		No	ClinGen TOPMed
CA2088048 rs759551723	572	P>L		No	ClinGen ExAC TOPMed gnomAD
CA65172142 rs998449284	572	P>T		No	ClinGen TOPMed
rs750966942 CA2088023	573	G>S		No	ClinGen ExAC TOPMed gnomAD
rs200792124 CA2088022 COSM1251440	574	P>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA65171306 rs1023604784	575	D>E		No	ClinGen TOPMed
CA2088021 rs762106006	576	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2088020 rs377501321	579	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA350783287 rs1422830151	579	K>R		No	ClinGen TOPMed
rs762501471 CA2088018	582	H>Q		No	ClinGen ExAC gnomAD
COSM1405175 rs1559395766 CA350783267	582	H>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA65171304 rs1002807355	584	K>E		No	ClinGen Ensembl
rs769719990 CA2088016	587	P>R		No	ClinGen ExAC TOPMed
rs776564487 CA2088014	588	N>Y		No	ClinGen ExAC
CA350783213 rs1189757794	590	V>M		No	ClinGen gnomAD
rs1287533544 CA350783203	591	E>G		No	ClinGen TOPMed
rs373306524 COSM3773947 CA2088013	594	P>T	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA2088011 rs755854720	598	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA65171303 rs878969479	600	A>E		No	ClinGen Ensembl
CA2088010 rs755207762	602	S>G		No	ClinGen ExAC gnomAD
CA350783118 rs1315458274	603	F>L		No	ClinGen TOPMed
rs1360886598 CA350783115	604	I>V		No	ClinGen TOPMed
CA350783088 rs1243222622	607	Y>C		No	ClinGen TOPMed
rs199647352 CA65171300	609	D>G		No	ClinGen gnomAD
COSM131772 rs866040902 CA65171301	609	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2088008 rs756272680	610	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2088007 rs756272680	610	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2088006 rs750908259	611	D>E		No	ClinGen ExAC gnomAD
CA350783068 rs149498255	611	D>H		No	ClinGen TOPMed gnomAD
rs149498255 CA65171299	611	D>N		No	ClinGen TOPMed gnomAD
CA65171298 rs139122290	612	R>P		No	ClinGen ExAC TOPMed gnomAD
rs139122290 CA2088004 COSM232263	612	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs561997094 CA2088005	612	R>W		No	ClinGen ExAC TOPMed gnomAD
CA350782989 rs1400310064	622	T>N		No	ClinGen gnomAD
CA2088002 rs763788454	623	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA350782974 rs1387086481	624	G>V		No	ClinGen TOPMed
rs894409474 CA65170488	625	C>Y		No	ClinGen Ensembl
rs767530108 CA2087950 COSM3962341	627	G>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761677465 CA2087949	629	T>A		No	ClinGen ExAC gnomAD
CA65170486 rs935796823	629	T>S		No	ClinGen Ensembl
rs1574937202 CA350782924	630	S>I		No	ClinGen Ensembl
CA2087947 rs375576439	631	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2087948 rs375576439	631	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs878927700 CA65170485	631	H>Y		No	ClinGen TOPMed gnomAD
rs528082386 CA65170484	632	D>N		No	ClinGen Ensembl
CA65170483 rs977134582	633	C>Y		No	ClinGen Ensembl
rs1329519305 CA350782900	634	I>L		No	ClinGen gnomAD
rs148634484 CA2087946	635	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs776926673 CA2087945	637	P>A		No	ClinGen ExAC gnomAD
rs879054297 CA65170481	638	W>*		No	ClinGen Ensembl
CA2087943 rs747144499	638	W>*		No	ClinGen ExAC gnomAD
CA2087944 rs770867168	638	W>R		No	ClinGen ExAC gnomAD
CA350782866 rs532377012	639	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2087942 rs532377012	639	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2087940 rs748501593	640	G>D		No	ClinGen ExAC gnomAD
rs987567655 CA65170480	642	S>F		No	ClinGen Ensembl
CA2087939 rs779321314	643	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1389784744 CA350782839	644	L>S		No	ClinGen gnomAD
rs755346331 CA2087938	646	Q>H		No	ClinGen ExAC gnomAD
rs1451131861 CA350782819	647	H>Y		No	ClinGen gnomAD
CA2087937 rs748839302	649	R>G		No	ClinGen ExAC gnomAD
rs978290380 CA350782805	649	R>I		No	ClinGen TOPMed gnomAD
CA65170478 rs978290380	649	R>K		No	ClinGen TOPMed gnomAD
rs1337377088 CA350782763	651	P>L		No	ClinGen TOPMed
rs1429912146 CA350782755	653	I>T		No	ClinGen gnomAD
CA2087894 rs773430380	653	I>V		No	ClinGen ExAC gnomAD
CA350782740 rs1166031214	655	A>V		No	ClinGen gnomAD
CA350782736 rs1461443409	656	G>E		No	ClinGen gnomAD
rs1278933337 CA350782731	657	V>L		No	ClinGen TOPMed
rs190654033 CA2087892	658	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145978648 CA2087891	659	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350782720 rs145978648	659	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1267104585 CA350782708	661	L>F		No	ClinGen gnomAD
rs1483383637 CA350782693	663	I>N		No	ClinGen gnomAD
CA350782684 rs1466213397	665	V>I		No	ClinGen TOPMed gnomAD
rs763212392 CA2087889	666	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2087890 rs370786638	666	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs138313493 CA350782670	667	V>A		No	ClinGen gnomAD
rs138313493 CA65167334	667	V>G		No	ClinGen gnomAD
rs775987436 CA2087888	667	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1449246579 CA350782664	668	G>V		No	ClinGen TOPMed
CA350782642 rs1326320494	672	A>P		No	ClinGen gnomAD
rs745465497 CA2087886	673	V>I		No	ClinGen ExAC TOPMed gnomAD
CA350782638 rs745465497	673	V>L		No	ClinGen ExAC TOPMed gnomAD
rs920852477 CA65167333	674	Y>C		No	ClinGen Ensembl
rs1453260317 CA350782626	675	V>I		No	ClinGen TOPMed
rs866307465 CA65167332	677	R>K		No	ClinGen Ensembl
CA2087884 rs202135721	678	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs746560611 CA2087883	679	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1430216655 CA350782591	680	I>F		No	ClinGen TOPMed gnomAD
CA350782569 rs1408036441	683	K>E		No	ClinGen TOPMed
rs758422014 CA350782552	685	A>D		No	ClinGen ExAC TOPMed gnomAD
CA2087881 rs758422014	685	A>V		No	ClinGen ExAC TOPMed gnomAD
CA350782526 rs1234631208	689	F>C		No	ClinGen gnomAD
rs752434356 CA2087880	689	F>L		No	ClinGen ExAC
CA350782525 rs1234631208	689	F>Y		No	ClinGen gnomAD
CA65167329 rs150906199	690	L>W		No	ClinGen Ensembl
CA2087879 rs778706748	692	T>R		No	ClinGen ExAC gnomAD
CA2087878 rs546771614 COSM1015967	693	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
COSM1752312 CA350782503 rs1437735890	693	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs771566784 CA2087844	694	L>S		No	ClinGen ExAC gnomAD
CA2087843 rs747647671	696	E>A		No	ClinGen ExAC TOPMed gnomAD
rs774321172 CA2087842	699	T>P		No	ClinGen ExAC gnomAD
CA65166603 COSM107590 rs142249882	700	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1015479929 CA65166602	701	S>G		No	ClinGen Ensembl
CA2087841 COSM442264 rs568046921	703	T>K	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs779755081 CA2087839 COSM94233	706	N>D	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1644151 rs1358626425 CA350782061	707	Q>E	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs755916651 CA2087838	708	A>V		No	ClinGen ExAC gnomAD
CA350782038 rs1216269779	709	Q>K		No	ClinGen gnomAD
COSM160827 CA65166600 rs267599191	711	R>C	endometrium breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1269407579 CA350782005	711	R>H		No	ClinGen gnomAD
rs777888859 CA2087836	712	I>M		No	ClinGen ExAC gnomAD
rs747184711 CA2087837	712	I>V		No	ClinGen ExAC gnomAD
rs868205149 CA65166599	720	R>G		No	ClinGen Ensembl
rs758473370 CA2087835	721	V>I		No	ClinGen ExAC gnomAD
CA65166598 rs138873985	722	K>E		No	ClinGen ESP
rs1422888414 CA350781887	722	K>N		No	ClinGen gnomAD
CA350781885 rs1365046282	723	V>I		No	ClinGen gnomAD
CA2087834 rs752771315	724	L>F		No	ClinGen ExAC gnomAD
CA350781826 rs1196646278	732	V>A		No	ClinGen gnomAD
CA350781820 rs1490027011	733	Y>C		No	ClinGen gnomAD
rs1369649105 CA350781793	735	G>C		No	ClinGen TOPMed
CA350781795 rs1369649105	735	G>S		No	ClinGen TOPMed
rs868485519 CA65166133	735	G>V		No	ClinGen gnomAD
CA2087796 rs748263203	737	W>L		No	ClinGen ExAC gnomAD
CA350781774 rs1379834725	738	V>I		No	ClinGen gnomAD
CA350781767 rs1345476204	739	P>S		No	ClinGen gnomAD
CA65166131 rs747395103	743	T>A		No	ClinGen Ensembl
rs1416721855 CA350781728	745	K>*		No	ClinGen gnomAD
rs745709151 CA65166130	749	A>S		No	ClinGen gnomAD
CA2087794 rs141502430	750	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs946661491 CA65166129	754	N>H		No	ClinGen Ensembl
CA350781666 rs1461667959	754	N>K		No	ClinGen TOPMed
rs1185506318 CA350781658	755	E>D		No	ClinGen TOPMed
CA350781651 rs1559353656	756	T>I		No	ClinGen Ensembl
rs1241007104 CA350781641	758	G>A		No	ClinGen gnomAD
CA2087793 rs182073178	758	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA65166128 rs915065015	759	P>H		No	ClinGen TOPMed
rs1261603409 CA350781627	760	K>N		No	ClinGen gnomAD
CA350781631 rs1461029681	760	K>T		No	ClinGen gnomAD
rs780689946 CA2087791	761	A>T		No	ClinGen ExAC gnomAD
CA350781610 rs1178043872	763	V>A		No	ClinGen TOPMed
CA2087790 rs375308478	763	V>M		No	ClinGen ESP ExAC
rs1315153014 CA350781601	764	E>D		No	ClinGen gnomAD
CA350781590 rs1306428006	766	M>V		No	ClinGen gnomAD
CA65166127 rs878865458	767	D>A		No	ClinGen Ensembl
CA350781550 rs1169977608	769	A>T		No	ClinGen TOPMed
rs1459469442 CA350781533	771	I>M		No	ClinGen TOPMed
CA65159291 rs201419322	773	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2087771 rs201419322	773	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350781520 rs1374553125	773	A>V		No	ClinGen gnomAD
rs781737887 CA2087770	775	M>L		No	ClinGen ExAC gnomAD
rs781737887 CA350781510	775	M>V		No	ClinGen ExAC gnomAD
CA65159290 rs866491191	777	H>Y		No	ClinGen Ensembl
rs1262820140 CA350781469	781	V>I		No	ClinGen gnomAD
rs747423735 CA65159288	782	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2087768 COSM1579045 rs747423735	782	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA65159289 rs879060634	782	R>W		No	ClinGen TOPMed gnomAD
CA350781443 rs1209728940	786	V>M		No	ClinGen gnomAD
rs1340739738 CA350781420	789	S>N		No	ClinGen gnomAD
CA65159287 rs879103900	791	T>A		No	ClinGen TOPMed gnomAD
CA350781403 rs1358773116	792	I>V		No	ClinGen gnomAD
CA2087766 rs142841164 COSM1238809	793	Q>H	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA350781389 rs1294359412	794	L>Q		No	ClinGen TOPMed
CA2087764 rs764672016	795	V>L		No	ClinGen ExAC gnomAD
rs760370909 CA2087760	799	M>I		No	ClinGen ExAC gnomAD
COSM476860 rs753682457 CA2087762	799	M>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs367778613 CA2087761	799	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA350781361 rs753682457	799	M>V		No	ClinGen ExAC gnomAD
CA350781345 rs1420072649	801	H>R		No	ClinGen TOPMed gnomAD
CA350781347 rs1217205766	801	H>Y		No	ClinGen TOPMed
rs1484741477 CA350781341	802	G>S		No	ClinGen TOPMed
CA2087758 rs767421470	803	C>G		No	ClinGen ExAC TOPMed gnomAD
rs775875805 CA350781309	806	E>D		No	ClinGen ExAC TOPMed gnomAD
CA350781303 rs1300533599	807	Y>F		No	ClinGen TOPMed
CA2087755 rs769721175	809	H>P		No	ClinGen ExAC gnomAD
rs1430375907 CA350781272	811	H>Q		No	ClinGen TOPMed
rs570151623 CA2087752	814	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA2087751 rs112196222	814	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs778047462 CA65159285	815	I>L		No	ClinGen ExAC TOPMed gnomAD
CA350781246 rs1264168721	815	I>T		No	ClinGen TOPMed gnomAD
rs778047462 CA2087750	815	I>V		No	ClinGen ExAC TOPMed gnomAD
rs778661906 CA2087747	819	L>V		No	ClinGen ExAC gnomAD
CA2087744 rs766218904	822	N>D		No	ClinGen ExAC gnomAD
rs1406488913 CA350781188	824	C>F		No	ClinGen gnomAD
rs539848241 CA2087743	824	C>W		No	ClinGen 1000Genomes ExAC gnomAD
CA2087742 rs373311688	827	I>V		No	ClinGen ESP ExAC gnomAD
rs779543457 CA2087710	831	M>L		No	ClinGen ExAC gnomAD
rs867157034 CA65143850	832	M>I		No	ClinGen Ensembl
CA350779370 rs1574477306	832	M>R		No	ClinGen Ensembl
CA2087709 rs556914612	833	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1018165669 CA65143849	833	Y>H		No	ClinGen Ensembl
CA350779338 rs1366287589	837	R>K		No	ClinGen gnomAD
CA2087708 rs745323568	837	R>S		No	ClinGen ExAC gnomAD
COSM1578992 rs1423325504 CA350779334	838	R>*	kidney large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1024245860 CA65143848	838	R>Q		No	ClinGen TOPMed gnomAD
CA350779309 COSM1015914 rs1412193732	842	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
RCV000509307 CA350779310 rs1240072004	842	R>W		No	ClinGen ClinVar dbSNP gnomAD
rs751446160 CA2087705	843	D>N		No	ClinGen ExAC TOPMed gnomAD
rs777679881 CA2087704	846	A>T		No	ClinGen ExAC gnomAD
CA2087703 rs758104381	846	A>V		No	ClinGen ExAC gnomAD
rs754127388 CA2087702	847	R>C		No	ClinGen ExAC TOPMed gnomAD
CA350779280 rs1299031105	847	R>H		No	ClinGen TOPMed gnomAD
COSM1284768 CA2087700 rs760762277	849	V>I	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760762277 CA2087701	849	V>L		No	ClinGen ExAC gnomAD
CA2087699 rs537545486	851	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537545486 CA65143846	851	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2087698 rs767584392	852	K>R		No	ClinGen ExAC gnomAD
CA350779244 rs1574477092	853	S>Y		No	ClinGen Ensembl
CA2087695 rs769106767	856	H>L		No	ClinGen ExAC gnomAD
rs769106767 CA350779223	856	H>R		No	ClinGen ExAC gnomAD
CA350779205 rs1279305501	859	I>V		No	ClinGen TOPMed
CA2087694 rs763189652	860	T>I		No	ClinGen ExAC TOPMed gnomAD
CA350779196 rs763189652	860	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2087692 rs769514330	869	E>G		No	ClinGen ExAC gnomAD
CA2087693 rs775232357	869	E>K		No	ClinGen ExAC gnomAD
rs745376683 CA2087691	870	G>A		No	ClinGen ExAC gnomAD
rs745376683 CA65143843	870	G>E		No	ClinGen ExAC gnomAD
rs1480577684 CA350779127	871	D>G		No	ClinGen gnomAD
rs770551183 CA2087689	873	K>T		No	ClinGen ExAC TOPMed gnomAD
rs777538337 CA2087687	876	N>S		No	ClinGen ExAC gnomAD
rs758241822 CA2087686	877	A>V		No	ClinGen ExAC TOPMed gnomAD
CA350779072 rs1198974786	879	G>R		No	ClinGen TOPMed
CA350779064 rs1362156940	880	G>E		No	ClinGen TOPMed gnomAD
CA350779058 rs1452146626	881	K>R		No	ClinGen TOPMed
COSM280845 rs771843850 CA2087666	882	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs747975697 CA2087665	883	P>S		No	ClinGen ExAC gnomAD
rs778742444 CA2087664	884	I>V		No	ClinGen ExAC gnomAD
rs754748646 CA2087663	887	M>I		No	ClinGen ExAC gnomAD
rs1285084868 CA350778989	889	L>V		No	ClinGen TOPMed gnomAD
rs181319801 CA65143548	891	C>Y		No	ClinGen 1000Genomes
rs149713914 CA2087662	892	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1228208231 CA350778959	893	H>L		No	ClinGen TOPMed
CA350778962 rs1312174046	893	H>Y		No	ClinGen TOPMed
rs1308973432 CA350778921	898	T>S		No	ClinGen gnomAD
rs757382678 CA2087660	900	Q>R		No	ClinGen ExAC gnomAD
CA350778901 rs1300662053	901	S>N		No	ClinGen gnomAD
rs764667767 CA2087659	903	V>I		No	ClinGen ExAC TOPMed gnomAD
CA65143546 rs368984080	905	S>G		No	ClinGen ESP TOPMed
CA65143073 rs905615345	907	G>A		No	ClinGen TOPMed gnomAD
CA350778823 rs1391443605	910	I>M		No	ClinGen gnomAD
rs754195521 CA2087632	910	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2087631 rs374581758	914	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA65143072 rs374581758	914	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA65143071 rs867944951	918	G>E		No	ClinGen Ensembl
CA350778746 rs1339233847	922	D>H		No	ClinGen gnomAD
rs148791072 CA2087628	926	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs537458255 CA2087627 COSM1471274	927	R>*	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs768523789 CA2087626	930	P>S		No	ClinGen ExAC gnomAD
rs1173044119 CA350778683	932	L>I		No	ClinGen TOPMed gnomAD
rs1228233900 CA350778666	934	E>V		No	ClinGen TOPMed
CA2087625 rs762743981	936	G>E		No	ClinGen ExAC gnomAD
CA65143069 rs147624110 COSM108015	936	G>R	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs775214878 CA2087624	937	E>K		No	ClinGen ExAC gnomAD
CA350778638 rs1200296273	938	R>H		No	ClinGen gnomAD
rs769619547 CA2087623	939	L>V		No	ClinGen ExAC
CA65143068 rs983913460	940	P>L		No	ClinGen Ensembl
rs1265800457 CA350778599	944	I>M		No	ClinGen gnomAD
CA350778604 rs1435419609	944	I>V		No	ClinGen gnomAD
CA2087622 rs370965857 COSM3766534	947	I>T	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA350778583 rs1170982070	947	I>V		No	ClinGen gnomAD
COSM1162805 CA2087620 rs376298364	949	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA350778549 rs1483476866	951	M>I		No	ClinGen TOPMed
CA350778551 rs1483476866	951	M>I		No	ClinGen TOPMed
rs1249939343 CA350778540	953	M>L		No	ClinGen TOPMed
CA350778475 rs1337583184	959	I>T		No	ClinGen gnomAD
rs1216381695 CA350778460	961	A>V		No	ClinGen Ensembl
CA350778454 rs1398041219	962	D>E		No	ClinGen gnomAD
rs928008050 CA65142820	962	D>H		No	ClinGen Ensembl
CA2087596 rs768839933	963	S>G		No	ClinGen ExAC gnomAD
rs1172120091 CA350778448	963	S>I		No	ClinGen gnomAD
rs756460001 CA2087593	965	P>L		No	ClinGen ExAC gnomAD
rs1157390905 CA350778420	967	F>C		No	ClinGen gnomAD
CA2087592 rs529158613	973	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1574459958 CA350778375	974	F>V		No	ClinGen Ensembl
rs1163228979 CA350778363	976	R>G		No	ClinGen TOPMed
CA2087590 rs563587222	976	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA350778353 rs1440382310	977	M>T		No	ClinGen gnomAD
CA2087589 rs574197848	979	R>G		No	ClinGen ExAC TOPMed gnomAD
rs763644012 CA2087588	979	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1355231675 CA350778328	981	P>R		No	ClinGen gnomAD
CA350778313 rs1239361918	983	R>I		No	ClinGen gnomAD
rs1226423778 CA350778310	984	Y>N		No	ClinGen gnomAD
rs757867095 CA2087565	989	G>D		No	ClinGen ExAC gnomAD
CA2087564 rs143134749 COSM1015904	992	R>C	pancreas large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA350778241 rs1390491269	992	R>H		No	ClinGen TOPMed gnomAD
rs765087226 CA2087563	993	M>R		No	ClinGen ExAC gnomAD
rs1248323922 CA350778183	1000	D>V		No	ClinGen gnomAD
CA2087560 rs766321838	1001	S>N		No	ClinGen ExAC gnomAD
CA2087558 rs751857242	1002	K>R		No	ClinGen ExAC gnomAD
CA2087556 rs762950031 COSM1015903	1003	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs112008136 CA65142680	1008	L>W		No	ClinGen Ensembl
rs879025895 CA65142679	1009	D>G		No	ClinGen TOPMed
CA350778100 rs1218019126	1011	E>D		No	ClinGen gnomAD
rs1574457273 CA350778099	1012	D>N		No	ClinGen Ensembl
CA350778086 rs1263765193	1013	L>F		No	ClinGen TOPMed
rs769751950 CA2087554	1015	D>V		No	ClinGen ExAC gnomAD
rs1277068174 CA350778066	1016	M>L		No	ClinGen gnomAD
CA350778063 rs1478571014	1016	M>T		No	ClinGen TOPMed gnomAD
CA2087553 rs139001004	1017	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1332523099 CA350778037	1020	E>K		No	ClinGen gnomAD
rs1169528920 CA350777981	1027	A>V		No	ClinGen gnomAD
CA2087552 rs777092550	1029	N>K		No	ClinGen ExAC gnomAD
CA350777963 rs1197412002	1030	I>F		No	ClinGen gnomAD
CA2087551 rs771316030	1030	I>N		No	ClinGen ExAC gnomAD
rs369858826 CA2087550	1031	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2087548 rs771687184	1033	P>R		No	ClinGen ExAC gnomAD
COSM131774 rs867780056 CA65142677	1033	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA65142676 rs377159914	1035	Y>S		No	ClinGen ESP TOPMed
CA350777927 rs1256332820	1036	T>S		No	ClinGen gnomAD
CA2087546 rs532657266	1038	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1398681951 CA350777910	1039	A>S		No	ClinGen TOPMed
rs1398681951 CA350777912	1039	A>T		No	ClinGen TOPMed
CA350777899 rs1559149646	1041	I>L		No	ClinGen Ensembl
rs1280873952 CA350777895	1041	I>T		No	ClinGen TOPMed gnomAD
rs1217958039 CA350777889	1042	D>G		No	ClinGen gnomAD
CA2087545 COSM1015901 rs754420079	1043	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA65142675 rs146491343	1043	S>P		No	ClinGen ESP
CA2087542 rs560859204	1044	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA65142673 rs202053701	1045	R>K		No	ClinGen ESP
CA350777870 rs1375169955	1045	R>S		No	ClinGen gnomAD
CA65142674 rs202053701	1045	R>T		No	ClinGen ESP
CA65138799 rs755459959	1046	S>N		No	ClinGen TOPMed gnomAD
rs1285745508 CA350781132	1046	S>R		No	ClinGen gnomAD
CA350781118 rs1222680082	1048	I>T		No	ClinGen gnomAD
rs1037872648 CA65138798	1052	P>S		No	ClinGen TOPMed
rs1438732641 CA350781084	1053	P>L		No	ClinGen TOPMed
CA350781081 rs1323888787	1054	P>S		No	ClinGen TOPMed gnomAD
rs533283389 CA2087516	1056	Y>N		No	ClinGen 1000Genomes ExAC gnomAD
rs766441342 CA2087515	1057	T>I		No	ClinGen ExAC TOPMed gnomAD
CA350781060 rs766441342	1057	T>N		No	ClinGen ExAC TOPMed gnomAD
CA65138796 rs878903178	1060	S>L		No	ClinGen Ensembl
rs372352845 CA2087512	1061	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2087513 rs773683480	1061	G>R		No	ClinGen ExAC gnomAD
CA350781023 rs1553519043	1062	N>D		No	ClinGen Ensembl
CA350781024 rs1553519043	1062	N>H		No	ClinGen Ensembl
CA2087492 rs200172669	1062	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1254318693 CA350781015	1063	Q>*		No	ClinGen gnomAD
CA350781011 rs1408253754	1063	Q>H		No	ClinGen TOPMed
rs149665378 CA350781001	1065	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149665378 CA2087491	1065	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs878936823 CA65138712	1066	Y>H		No	ClinGen TOPMed gnomAD
CA2087489 rs764544368	1067	R>*		No	ClinGen ExAC gnomAD
CA2087488 rs147514533 COSM211442	1067	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA350780977 rs775252191	1069	G>*		No	ClinGen ExAC gnomAD
CA350780975 rs1235299802	1069	G>A		No	ClinGen gnomAD
rs775252191 CA2087487	1069	G>R		No	ClinGen ExAC gnomAD
rs769463103 CA2087486	1070	G>V		No	ClinGen ExAC gnomAD
CA2087485 rs745323643	1071	F>L		No	ClinGen ExAC gnomAD
CA350780961 rs1447169464	1072	A>T		No	ClinGen gnomAD
rs770705502 CA350780952	1073	A>D		No	ClinGen ExAC gnomAD
rs1333562511 CA350780953	1073	A>P		No	ClinGen gnomAD
rs770705502 CA2087483	1073	A>V		No	ClinGen ExAC gnomAD
rs981589205 CA65138710	1076	G>R		No	ClinGen TOPMed
rs1468024525 CA350780925	1077	V>G		No	ClinGen gnomAD
CA2087482 rs746962249	1077	V>M		No	ClinGen ExAC TOPMed gnomAD
CA65138709 rs970484400	1082	R>G		No	ClinGen TOPMed
rs758164437 CA2087480	1084	P>T		No	ClinGen ExAC gnomAD
CA2087479 rs143251275	1085	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA350780878 rs1176367181	1085	T>N		No	ClinGen gnomAD
rs780207567 CA2087478	1086	S>G		No	ClinGen ExAC gnomAD
rs182276587 CA2087477	1086	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs781330330 CA2087475	1087	T>P		No	ClinGen ExAC gnomAD
rs1347967434 CA350780842	1091	A>S		No	ClinGen gnomAD
CA65138708 rs372258619	1092	P>H		No	ClinGen Ensembl
CA2087474 rs757766994	1097	A>D		No	ClinGen ExAC gnomAD
rs752087435 CA2087473	1098	T>I		No	ClinGen ExAC gnomAD
rs1278487985 CA350780800	1098	T>P		No	ClinGen TOPMed gnomAD
rs1355545264 CA350780794	1099	A>D		No	ClinGen gnomAD
CA350780784 rs1232890148	1100	E>D		No	ClinGen TOPMed
CA2087472 COSM3695233 rs764593744	1101	I>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1237135640 CA350780767	1103	D>Y		No	ClinGen TOPMed gnomAD
rs1574387073 CA350780757	1104	D>A		No	ClinGen Ensembl
CA2087471 rs763370593	1105	S>A		No	ClinGen ExAC gnomAD
CA350780750 rs1156404869	1105	S>Y		No	ClinGen TOPMed
CA2087470 rs772053479	1106	C>G		No	ClinGen ExAC gnomAD
rs772053479 CA65138707	1106	C>R		No	ClinGen ExAC gnomAD
COSM1015888 CA2087468 rs759088587	1110	T>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2087469 rs764924402	1110	T>P		No	ClinGen ExAC gnomAD
rs1574386977 CA350780714	1111	L>P		No	ClinGen Ensembl
CA350780709 rs770460785	1112	R>H		No	ClinGen ExAC gnomAD
CA2087466 rs770460785	1112	R>P		No	ClinGen ExAC gnomAD
CA350780698 rs1469309092	1114	P>T		No	ClinGen gnomAD
rs773165657 CA350780692	1115	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773165657 CA2087463	1115	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2087462 rs771882543	1117	P>L		No	ClinGen ExAC gnomAD
rs1217217544 CA350780669	1119	V>I		No	ClinGen TOPMed gnomAD
rs747886025 CA2087461	1122	D>Y		No	ClinGen ExAC gnomAD
rs569702362 CA2087460	1123	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA65138705 rs893435623	1124	S>G		No	ClinGen TOPMed gnomAD
CA350780631 rs1356804335	1124	S>N		No	ClinGen gnomAD
CA2087459 rs746094631	1125	T>A		No	ClinGen ExAC gnomAD
rs781181705 CA2087457	1125	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2087458 rs746094631	1125	T>P		No	ClinGen ExAC gnomAD
CA350780585 rs1401131440	1131	D>N		No	ClinGen gnomAD
CA350780569 rs1440155027	1133	T>I		No	ClinGen TOPMed
CA350780566 rs139785964	1134	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350780565 rs139785964	1134	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2087452 rs139785964	1134	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2087451 rs765690636	1135	F>I		No	ClinGen ExAC gnomAD
rs1456109926 CA350780552	1136	A>S		No	ClinGen TOPMed gnomAD
CA65138700 rs78030748	1137	P>L		No	ClinGen Ensembl
rs1210002714 CA350780546	1137	P>T		No	ClinGen TOPMed
CA2087449 rs753505906	1138	E>G		No	ClinGen ExAC TOPMed gnomAD
rs377737065 CA2087447	1139	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs368679346 CA2087448	1139	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1454494195 CA350780523	1141	P>S		No	ClinGen TOPMed
rs1211840752 CA350780518	1142	R>*		No	ClinGen gnomAD
CA2087446 rs3748961	1142	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774192228 CA2087444	1145	L>M		No	ClinGen ExAC TOPMed gnomAD
CA2087442 rs768479400	1146	D>V		No	ClinGen ExAC gnomAD
rs781436663 CA2087440	1149	G>C		No	ClinGen ExAC TOPMed gnomAD
CA2087441 rs781436663	1149	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2087439 rs770938636	1149	G>V		No	ClinGen ExAC TOPMed gnomAD
CA350780465 rs1187421880	1150	Y>C		No	ClinGen gnomAD
CA2087438 rs747054671	1150	Y>H		No	ClinGen ExAC
rs1332015108 CA350780457	1151	M>T		No	ClinGen TOPMed gnomAD
rs140366015 CA65138698	1151	M>V		No	ClinGen ESP TOPMed gnomAD
rs905120734 CA65138697	1153	P>L		No	ClinGen Ensembl
rs1326012979 CA350780445	1153	P>S		No	ClinGen TOPMed gnomAD
rs1574386401 CA350780437	1154	M>I		No	ClinGen Ensembl
CA350780438 rs1393194112	1154	M>R		No	ClinGen gnomAD
rs1393194112 CA350780439	1154	M>T		No	ClinGen gnomAD
CA2087437 rs778431214	1154	M>V		No	ClinGen ExAC gnomAD
rs1170963831 CA350780433	1155	R>*		No	ClinGen gnomAD
rs1044752647 CA65138696	1155	R>Q		No	ClinGen TOPMed gnomAD
rs909254725 CA65138695	1156	D>E		No	ClinGen TOPMed gnomAD
rs373818748 CA2087436	1156	D>G		No	ClinGen ESP ExAC
rs1420878966 CA350780429	1156	D>H		No	ClinGen gnomAD
CA350780399 rs1248231403	1160	Q>P		No	ClinGen gnomAD
rs1296596283 CA350780373	1162	Y>H		No	ClinGen TOPMed
CA2087410 rs768312275	1163	L>P		No	ClinGen ExAC TOPMed gnomAD
rs768312275 CA2087411	1163	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA65138412 rs202042335	1165	P>R		No	ClinGen gnomAD
rs1429045358 CA350780350	1166	V>M		No	ClinGen gnomAD
rs549128376 CA350780338	1167	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350780341 rs1370818452	1167	E>G		No	ClinGen gnomAD
CA65138411 rs866912060	1167	E>K		No	ClinGen Ensembl
CA2087408 rs746481399	1168	E>G		No	ClinGen ExAC gnomAD
CA350780306 rs1360415506	1172	V>F		No	ClinGen gnomAD
CA350780302 rs1345186629	1173	S>T		No	ClinGen gnomAD
CA2087405 rs762661533 COSM131775	1174	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2087406 rs764035062	1174	R>W		No	ClinGen ExAC TOPMed gnomAD
CA350780289 rs1360910293	1175	R>K		No	ClinGen gnomAD
CA350780288 rs1160303514	1175	R>S		No	ClinGen TOPMed gnomAD
rs1417085142 CA350780272	1177	N>K		No	ClinGen gnomAD
CA350780266 rs1405990562	1178	G>A		No	ClinGen gnomAD
CA2087404 rs775424927	1179	D>N		No	ClinGen ExAC gnomAD
CA2087403 rs764925334	1180	L>I		No	ClinGen ExAC TOPMed gnomAD
rs773536989 CA2087402	1183	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1287189610 CA350780204	1187	E>D		No	ClinGen TOPMed gnomAD
CA65138410 rs7425801	1187	E>G		No	ClinGen Ensembl
rs144842611 CA350780210	1187	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144842611 CA2087399	1187	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350780193 rs1416461622	1189	H>D		No	ClinGen TOPMed
CA350780189 rs1443120257	1189	H>Q		No	ClinGen TOPMed
rs774730380 CA2087398	1190	N>S		No	ClinGen ExAC gnomAD
CA350780175 rs1315524347	1191	A>V		No	ClinGen TOPMed gnomAD
CA2087397 rs201275165	1193	N>S		No	ClinGen ExAC TOPMed gnomAD
rs201275165 CA350780165	1193	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1380675481 CA350780158	1194	G>D		No	ClinGen gnomAD
rs1290965391 CA350780155	1195	P>T		No	ClinGen gnomAD
rs780519461 CA2087395	1199	E>K		No	ClinGen ExAC TOPMed gnomAD
rs780519461 CA350780129	1199	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2087394 rs770116535	1201	E>K		No	ClinGen ExAC gnomAD
rs745554901 CA2087393	1201	E>V		No	ClinGen ExAC TOPMed gnomAD
CA350780106 rs1158618326	1202	Y>D		No	ClinGen gnomAD
CA350780098 rs1420098634	1203	V>L		No	ClinGen gnomAD
CA350780086 rs1185985735 COSM442242	1205	E>K	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1021016808 CA65138409	1206	P>S		No	ClinGen Ensembl
rs1264460817 CA350780069	1207	L>R		No	ClinGen gnomAD
rs1449090355 CA350780060	1209	L>F		No	ClinGen TOPMed
rs777146030 CA2087389	1211	T>N		No	ClinGen ExAC TOPMed gnomAD
rs777146030 CA350780043	1211	T>S		No	ClinGen ExAC TOPMed gnomAD
CA65138408 rs986486076	1212	F>S		No	ClinGen Ensembl
rs1450120457 CA350780034	1213	A>T		No	ClinGen TOPMed
rs752552949 CA2087387	1214	N>K		No	ClinGen ExAC gnomAD
CA2087386 rs765120252	1217	G>E		No	ClinGen ExAC gnomAD
CA350780004 rs765120252	1217	G>V		No	ClinGen ExAC gnomAD
rs759364591 CA2087385	1218	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2087384 rs750691942	1219	A>G		No	ClinGen ExAC gnomAD
COSM1251441 CA350779967 rs1281587425	1223	K>R	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2087380 rs774554133	1229	M>V		No	ClinGen ExAC gnomAD
rs768598448 CA2087379	1231	E>A		No	ClinGen ExAC gnomAD
rs908572950 CA65138406	1233	A>T		No	ClinGen TOPMed
rs1210422013 CA350779889	1234	K>R		No	ClinGen TOPMed
rs1424468013 CA350779878	1236	A>T		No	ClinGen TOPMed gnomAD
rs763559555 COSM1578973 CA2087378	1236	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA65138405 rs1016751041	1237	F>C		No	ClinGen gnomAD
rs1016751041 CA350779869	1237	F>S		No	ClinGen gnomAD
rs1470116293 CA350779862	1238	D>G		No	ClinGen gnomAD
CA2087375 rs746173581	1238	D>N		No	ClinGen ExAC gnomAD
CA65138404 rs879151031	1239	N>H		No	ClinGen Ensembl
rs770639422 CA2087374	1240	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2087373 rs770639422	1240	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1212716350 CA350779841	1241	D>E		No	ClinGen gnomAD
CA350779817 rs575123779	1244	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1225136962 COSM131776 CA350779804	1246	S>N	skin breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs757814141 CA2087370	1247	L>V		No	ClinGen ExAC gnomAD
rs150628313 CA2087369	1249	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3748727 CA2087366 rs753616912	1250	R>Q	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2087367 rs754829537	1250	R>W		No	ClinGen ExAC gnomAD
rs1401100695 CA350779778	1251	S>N		No	ClinGen gnomAD
CA350779775 rs1300035312	1251	S>R		No	ClinGen gnomAD
rs1270766158 CA350779757	1254	Q>R		No	ClinGen gnomAD
rs766270456 CA2087365	1257	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1178525913 CA350779711	1261	E>K		No	ClinGen TOPMed
rs887046912 CA65138401	1263	S>N		No	ClinGen TOPMed
CA350779689 rs1469479156	1263	S>R		No	ClinGen TOPMed
rs1559112872 CA350779681	1265	K>E		No	ClinGen Ensembl
CA2087362 rs764269029	1268	Y>C		No	ClinGen ExAC gnomAD
CA350779642 rs1457981508	1270	Q>*		No	ClinGen gnomAD
rs1256468343 CA350779620	1273	R>Q		No	ClinGen gnomAD
rs1480034665 CA350779621 COSM1205584	1273	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2087358 rs141902440	1275	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2087357 rs771261124	1276	P>T		No	ClinGen ExAC gnomAD
rs557840019 CA65138400	1277	I>L		No	ClinGen ExAC TOPMed gnomAD
CA350779600 rs1277658518	1277	I>T		No	ClinGen TOPMed
CA2087356 rs557840019	1277	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1372006710 CA350779597	1278	V>M		No	ClinGen TOPMed
rs771634130 CA2087354	1282	P>S		No	ClinGen ExAC gnomAD
rs868458258 CA65138397	1283	E>K		No	ClinGen Ensembl
rs748475478 CA65138396	1284	Y>N		No	ClinGen Ensembl
rs1574502340 CA350779555	1284	Y>S		No	ClinGen Ensembl
rs778995420 CA2087351	1285	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1213182678 CA350779541	1286	S>C		No	ClinGen TOPMed gnomAD
CA350779540 rs1213182678	1286	S>F		No	ClinGen TOPMed gnomAD
CA2087349 rs749222561	1287	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2087350 rs367568427	1287	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1440705268 CA350779524	1288	F>L		No	ClinGen gnomAD
CA350779518 rs1365124530	1289	S>C		No	ClinGen TOPMed gnomAD
CA350779520 rs1365124530	1289	S>F		No	ClinGen TOPMed gnomAD
rs545302445 CA65138395	1293	G>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs751834116 CA2087346	1297	P>L		No	ClinGen ExAC TOPMed gnomAD
CA350779474 rs1279524244	1297	P>S		No	ClinGen gnomAD
rs1262670231 CA350779464	1299	P>A		No	ClinGen gnomAD
CA350779459 rs1325370392	1300	P>S		No	ClinGen gnomAD
rs1237206458 CA350779450	1301	Y>S		No	ClinGen gnomAD
CA350779445 rs1466199554	1302	R>G		No	ClinGen TOPMed gnomAD
rs760087458 CA2087341	1304	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs879163362 COSM211847 CA65138394	1304	R>W	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA350779414 rs1354184668	1306	T>I		No	ClinGen gnomAD
CA350779406 rs777088560	1308	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777088560 CA2087340	1308	V>M		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q15303

17 regional properties for Q15303

Type	Name	Position	InterPro Accession
domain	Flavodoxin-like	523 - 536	IPR001094-1
domain	Flavodoxin-like	570 - 581	IPR001094-2
domain	Flavodoxin-like	646 - 656	IPR001094-3
domain	Flavodoxin-like	670 - 689	IPR001094-4
domain	Oxidoreductase FAD/NAD(P)-binding	1013 - 1125	IPR001433
domain	Flavoprotein pyridine nucleotide cytochrome reductase	795 - 805	IPR001709-1
domain	Flavoprotein pyridine nucleotide cytochrome reductase	940 - 947	IPR001709-2
domain	Flavoprotein pyridine nucleotide cytochrome reductase	976 - 985	IPR001709-3
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1012 - 1031	IPR001709-4
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1042 - 1051	IPR001709-5
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1055 - 1066	IPR001709-6
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1087 - 1103	IPR001709-7
domain	Flavoprotein pyridine nucleotide cytochrome reductase	1112 - 1120	IPR001709-8
domain	Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding	754 - 981	IPR003097
domain	Nitric oxide synthase, N-terminal	122 - 483	IPR004030
domain	Flavodoxin/nitric oxide synthase	522 - 705	IPR008254
domain	FAD-binding domain, ferredoxin reductase-type	758 - 1004	IPR017927

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein	In response to NRG1 treatment, the activated receptor is internalized
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

16 GO annotations of cellular component

Name	Definition
basal plasma membrane	The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
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.
GABA-ergic synapse	A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
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.
integral component of postsynaptic density membrane	The component of the postsynaptic density 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.
integral component of presynaptic membrane	The component of the presynaptic 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.
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
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.
epidermal growth factor receptor binding	Binding to an epidermal growth factor receptor.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
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.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
transcription cis-regulatory region binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon.
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.

34 GO annotations of biological process

Name	Definition
cardiac muscle tissue regeneration	The regrowth of cardiac muscle tissue to repair injured or damaged muscle fibers in the postnatal stage.
cell fate commitment	The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cellular response to epidermal 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 an epidermal growth factor stimulus.
central nervous system morphogenesis	The process in which the anatomical structure of the central nervous system is generated and organized. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
embryonic pattern specification	The process that results in the patterns of cell differentiation that will arise in an embryo.
establishment of planar polarity involved in nephron morphogenesis	Coordinated organization of groups of cells in the plane of an epithelium that contributes to the shaping of a nephron.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
lactation	The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young.
mammary gland alveolus development	The progression of the mammary gland alveolus over time, from its formation to its mature state. The mammary gland alveolus is a sac-like structure that is found in the mature gland.
mammary gland epithelial cell differentiation	The process in which a relatively unspecialized epithelial cell becomes a more specialized epithelial cell of the mammary gland.
mitochondrial fragmentation involved in apoptotic process	The change in the morphology of the mitochondria in an apoptotic cell from a highly branched network to a fragmented vesicular form.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neural crest cell migration	The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo.
olfactory bulb interneuron differentiation	The process in which a neuroblast acquires specialized features of an interneuron residing in the olfactory bulb.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of cardiac muscle cell proliferation	Any process that activates or increases the frequency, rate or extent of cardiac muscle cell proliferation.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of 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 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 phosphatidylinositol 3-kinase activity	Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of protein localization to cell surface	Any process that activates or increases the frequency, rate or extent of protein localization to the cell surface.
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 receptor signaling pathway via JAK-STAT	Any process that activates or increases the frequency, rate or extent of the JAK-STAT signaling pathway activity.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of tyrosine phosphorylation of STAT protein	Any process that activates or increases the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein.
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 cell migration	Any process that modulates the frequency, rate or extent of cell migration.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
synapse assembly	The aggregation, arrangement and bonding together of a set of components to form a synapse. This process ends when the synapse is mature (functional).
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.

60 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P13387	EGFR	Epidermal growth factor receptor	Gallus gallus (Chicken)	SS
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
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
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
P70424	Erbb2	Receptor tyrosine-protein kinase erbB-2	Mus musculus (Mouse)	SS
Q01279	Egfr	Epidermal growth factor receptor	Mus musculus (Mouse)	SS
Q61526	Erbb3	Receptor tyrosine-protein kinase erbB-3	Mus musculus (Mouse)	SS
Q61527	Erbb4	Receptor tyrosine-protein kinase erbB-4	Mus musculus (Mouse)	SS
Q62799	Erbb3	Receptor tyrosine-protein kinase erbB-3	Rattus norvegicus (Rat)	SS
P06494	Erbb2	Receptor tyrosine-protein kinase erbB-2	Rattus norvegicus (Rat)	SS
Q62956	Erbb4	Receptor tyrosine-protein kinase erbB-4	Rattus norvegicus (Rat)	SS
P55245	EGFR	Epidermal growth factor receptor	Macaca mulatta (Rhesus macaque)	SS
O16262	nipi-4	Protein nipi-4	Caenorhabditis elegans	PR
Q8VYA3	WAKL10	Wall-associated receptor kinase-like 10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q7X8C5	WAKL2	Wall-associated receptor kinase-like 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9S9M2	WAKL4	Wall-associated receptor kinase-like 4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C9L5	WAKL9	Wall-associated receptor kinase-like 9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q0WNY5	WAKL18	Wall-associated receptor kinase-like 18	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M092	WAKL17	Wall-associated receptor kinase-like 17	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LMN7	WAK5	Wall-associated receptor kinase 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LSV3	WAKL16	Putative wall-associated receptor kinase-like 16	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M342	WAKL15	Wall-associated receptor kinase-like 15	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MKPATGLWVW	VSLLVAAGTV	QPSDSQSVCA	GTENKLSSLS	DLEQQYRALR	KYYENCEVVM
70	80	90	100	110	120
GNLEITSIEH	NRDLSFLRSV	REVTGYVLVA	LNQFRYLPLE	NLRIIRGTKL	YEDRYALAIF
130	140	150	160	170	180
LNYRKDGNFG	LQELGLKNLT	EILNGGVYVD	QNKFLCYADT	IHWQDIVRNP	WPSNLTLVST
190	200	210	220	230	240
NGSSGCGRCH	KSCTGRCWGP	TENHCQTLTR	TVCAEQCDGR	CYGPYVSDCC	HRECAGGCSG
250	260	270	280	290	300
PKDTDCFACM	NFNDSGACVT	QCPQTFVYNP	TTFQLEHNFN	AKYTYGAFCV	KKCPHNFVVD
310	320	330	340	350	360
SSSCVRACPS	SKMEVEENGI	KMCKPCTDIC	PKACDGIGTG	SLMSAQTVDS	SNIDKFINCT
370	380	390	400	410	420
KINGNLIFLV	TGIHGDPYNA	IEAIDPEKLN	VFRTVREITG	FLNIQSWPPN	MTDFSVFSNL
430	440	450	460	470	480
VTIGGRVLYS	GLSLLILKQQ	GITSLQFQSL	KEISAGNIYI	TDNSNLCYYH	TINWTTLFST
490	500	510	520	530	540
INQRIVIRDN	RKAENCTAEG	MVCNHLCSSD	GCWGPGPDQC	LSCRRFSRGR	ICIESCNLYD
550	560	570	580	590	600
GEFREFENGS	ICVECDPQCE	KMEDGLLTCH	GPGPDNCTKC	SHFKDGPNCV	EKCPDGLQGA
610	620	630	640	650	660
NSFIFKYADP	DRECHPCHPN	CTQGCNGPTS	HDCIYYPWTG	HSTLPQHART	PLIAAGVIGG
670	680	690	700	710	720
LFILVIVGLT	FAVYVRRKSI	KKKRALRRFL	ETELVEPLTP	SGTAPNQAQL	RILKETELKR
730	740	750	760	770	780
VKVLGSGAFG	TVYKGIWVPE	GETVKIPVAI	KILNETTGPK	ANVEFMDEAL	IMASMDHPHL
790	800	810	820	830	840
VRLLGVCLSP	TIQLVTQLMP	HGCLLEYVHE	HKDNIGSQLL	LNWCVQIAKG	MMYLEERRLV
850	860	870	880	890	900
HRDLAARNVL	VKSPNHVKIT	DFGLARLLEG	DEKEYNADGG	KMPIKWMALE	CIHYRKFTHQ
910	920	930	940	950	960
SDVWSYGVTI	WELMTFGGKP	YDGIPTREIP	DLLEKGERLP	QPPICTIDVY	MVMVKCWMID
970	980	990	1000	1010	1020
ADSRPKFKEL	AAEFSRMARD	PQRYLVIQGD	DRMKLPSPND	SKFFQNLLDE	EDLEDMMDAE
1030	1040	1050	1060	1070	1080
EYLVPQAFNI	PPPIYTSRAR	IDSNRSEIGH	SPPPAYTPMS	GNQFVYRDGG	FAAEQGVSVP
1090	1100	1110	1120	1130	1140
YRAPTSTIPE	APVAQGATAE	IFDDSCCNGT	LRKPVAPHVQ	EDSSTQRYSA	DPTVFAPERS
1150	1160	1170	1180	1190	1200
PRGELDEEGY	MTPMRDKPKQ	EYLNPVEENP	FVSRRKNGDL	QALDNPEYHN	ASNGPPKAED
1210	1220	1230	1240	1250	1260
EYVNEPLYLN	TFANTLGKAE	YLKNNILSMP	EKAKKAFDNP	DYWNHSLPPR	STLQHPDYLQ
1270	1280	1290	1300
EYSTKYFYKQ	NGRIRPIVAE	NPEYLSEFSL	KPGTVLPPPP	YRHRNTVV