AiPD: Autoinhibited Protein Database

Q5VT25

Gene name	CDC42BPA
Protein name	Serine/threonine-protein kinase MRCK alpha
Names	CDC42-binding protein kinase alpha, DMPK-like alpha, Myotonic dystrophy kinase-related CDC42-binding kinase alpha, MRCK alpha, Myotonic dystrophy protein kinase-like alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8476
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class	MYOTONIC DYSTROPHY S/T KINASE-RELATED (PTHR22988)

Descriptions

CDC42BPA(MRCK) is a Cdc42-binding serine/threonine kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. A region containing the two distal CC domains (CC2 and CC3; residues 658-930) interacts intramolecularly with the kinase domain and negatively regulates its activity.

Autoinhibitory domains (AIDs)

Target domain	77-343 (Protein kinase domain)
Relief mechanism	Ligand binding
Assay	Deletion assay, Split protein assay

AID

658-930 (Coiled-coil domains)

Target domain

77-343 (Protein kinase domain)

Relief mechanism

Ligand binding (phorbol 12-myristate 13-acetate (PMA) binding)

Assay

Deletion assay, Split protein assay

Accessory elements

218-242 (Activation loop from InterPro)

Target domain	4-412 (Catalytic domain of the Serine/Threonine Kinase, DMPK-related cell division control protein 42 binding kinase, MRCK, alpha)
Relief mechanism
Assay

References

Tan I et al. (2001) "Intermolecular and intramolecular interactions regulate catalytic activity of myotonic dystrophy kinase-related Cdc42-binding kinase alpha", Molecular and cellular biology, 21, 2767-78

Autoinhibited structure

Activated structure

1 structures for Q5VT25

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5VT25-F1	Predicted				AlphaFoldDB

1111 variants for Q5VT25

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs759609746 CA1427267	2	S>Y		No	ClinGen ExAC gnomAD
CA1427266 rs776784657	3	G>E		No	ClinGen ExAC TOPMed gnomAD
CA1427264 rs747178171	4	E>D		No	ClinGen ExAC TOPMed gnomAD
rs778085547 CA1427263	5	V>E		No	ClinGen ExAC gnomAD
CA39111152 rs1025158932	9	Q>H		No	ClinGen TOPMed
CA345331486 rs1460873400	12	Q>H		No	ClinGen TOPMed
CA1427262 rs772224353	12	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA39111151 rs992981464	16	D>G		No	ClinGen gnomAD
CA345331441 rs1466876934	19	A>G		No	ClinGen TOPMed gnomAD
rs780626034 CA1427257	19	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1339408 CA1427258 COSM1339407 rs780626034 COSM1339409	19	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1034597912 CA39111149	20	Q>*		No	ClinGen TOPMed
CA345331438 rs1034597912	20	Q>E		No	ClinGen TOPMed
rs774881044 CA39111148	21	T>I		No	ClinGen Ensembl
CA1427256 rs756784819	22	N>S		No	ClinGen ExAC gnomAD
CA1427253 rs146651448	24	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA345331410 rs1305255672	24	Q>R		No	ClinGen TOPMed gnomAD
CA1427252 rs373906220	30	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1237976741 CA345331343	34	I>V		No	ClinGen gnomAD
rs759487297 CA1427250	35	L>F		No	ClinGen ExAC gnomAD
CA345331336 rs759487297	35	L>V		No	ClinGen ExAC gnomAD
rs1559030359 CA345331326	36	I>M		No	ClinGen Ensembl
rs1573056791 CA345331322	37	C>Y		No	ClinGen Ensembl
CA345331307 rs1322819084	39	Y>C		No	ClinGen TOPMed
rs201862186 CA39111147	43	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1427248 rs201862186	43	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1427246 rs773215967	44	N>D		No	ClinGen ExAC gnomAD
CA1427244 rs748385715	45	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1427245 rs748385715	45	S>F		No	ClinGen ExAC TOPMed gnomAD
CA345331261 rs1375803870	46	P>A		No	ClinGen TOPMed gnomAD
CA1427243 rs369190607	46	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA39111146 rs369190607	46	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA345331260 rs1375803870	46	P>S		No	ClinGen TOPMed gnomAD
CA345331212 rs1195865727	53	I>V		No	ClinGen TOPMed
CA1427241 rs749749152	54	L>F		No	ClinGen ExAC gnomAD
rs1403063680 CA345331163	60	A>T		No	ClinGen TOPMed gnomAD
rs1172155759 CA345330921	62	P>Q		No	ClinGen gnomAD
CA1427216 rs746362110	62	P>T		No	ClinGen ExAC
rs1248747457 CA345330871	69	Q>R		No	ClinGen gnomAD
CA345330854 rs1200220696	72	L>I		No	ClinGen gnomAD
CA345330842 rs1336750390	73	H>R		No	ClinGen TOPMed
rs747795245 CA1427213	75	E>D		No	ClinGen ExAC gnomAD
CA39103835 rs1040404067	80	L>V		No	ClinGen Ensembl
rs1218741320 CA345330776	82	V>A		No	ClinGen gnomAD
rs778676544 CA1427212	85	R>Q		No	ClinGen ExAC gnomAD
rs1217044020 CA345330729	90	E>*		No	ClinGen gnomAD
CA39099134 rs912788264	93	V>I		No	ClinGen TOPMed
rs1263333412 CA345331127	94	V>A		No	ClinGen gnomAD
CA345331120 rs1315464165	95	K>I		No	ClinGen gnomAD
rs985875390 CA39099133	98	N>S		No	ClinGen TOPMed gnomAD
rs1214718293 CA345331055	105	M>L		No	ClinGen gnomAD
CA345331020 rs1326904332	109	N>S		No	ClinGen TOPMed gnomAD
rs868200746 CA39099131	112	E>K		No	ClinGen Ensembl
CA345330984 rs1446231082	113	M>I		No	ClinGen TOPMed gnomAD
CA345330961 rs1262678879	117	A>S		No	ClinGen TOPMed
CA345330705 rs1291368707	119	T>R		No	ClinGen TOPMed
CA1427172 rs768296496	121	C>R		No	ClinGen ExAC gnomAD
rs748905063 CA1427171	122	F>S		No	ClinGen ExAC gnomAD
rs1362214824 CA345330646	128	V>I		No	ClinGen TOPMed gnomAD
rs745630957 CA1427168	131	N>S		No	ClinGen ExAC gnomAD
CA1427165 rs147024844	134	N>D		No	ClinGen ESP ExAC gnomAD
CA1427163 rs758504283	134	N>S		No	ClinGen ExAC gnomAD
rs758504283 CA1427164	134	N>T		No	ClinGen ExAC gnomAD
rs546510404 CA39097719	137	I>V		No	ClinGen Ensembl
CA1427162 rs146827361	139	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs921962278 CA39097718	139	T>S		No	ClinGen Ensembl
CA1427161 rs765352926	141	H>Y		No	ClinGen ExAC gnomAD
CA39097716 rs1044725014	144	F>L		No	ClinGen TOPMed
rs369680423 CA1427160	148	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345330469 rs1257975987	151	Y>*		No	ClinGen TOPMed
CA39097031 rs201422232	160	G>E		No	ClinGen 1000Genomes
CA345330356 rs1296265642	168	K>R		No	ClinGen TOPMed gnomAD
CA345330348 rs1395207685	169	F>S		No	ClinGen gnomAD
CA1427138 rs755091294	171	D>E		No	ClinGen ExAC gnomAD
rs1338239885 CA345330315	174	P>T		No	ClinGen gnomAD
CA345330289 rs1483018110	177	M>T		No	ClinGen TOPMed
CA1427136 rs761711278	178	A>G		No	ClinGen ExAC TOPMed gnomAD
rs201287522 CA1427135	179	R>K		No	ClinGen ExAC TOPMed gnomAD
rs750861618 CA1427134	180	F>I		No	ClinGen ExAC gnomAD
CA1427133 rs768118756	180	F>L		No	ClinGen ExAC gnomAD
rs762470521 CA1427132	181	Y>F		No	ClinGen ExAC gnomAD
CA1427130 rs151080605	182	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA345330239 rs1241693391	185	M>V		No	ClinGen TOPMed gnomAD
rs1572261883 CA345330226	186	V>G		No	ClinGen Ensembl
rs759058165 CA1427129	187	I>L		No	ClinGen ExAC gnomAD
CA345330210 rs1411633274	189	I>T		No	ClinGen TOPMed
rs371745191 CA1427128	189	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs537583692 CA39097029	192	V>G		No	ClinGen 1000Genomes
rs924615769 CA39097030	192	V>L		No	ClinGen TOPMed
rs1341612596 CA345330189	193	H>N		No	ClinGen gnomAD
rs760438974 CA1427126	194	Q>R		No	ClinGen ExAC gnomAD
CA345330165 rs1380219071	196	H>R		No	ClinGen gnomAD
CA345330153 rs1464180632	198	V>I		No	ClinGen TOPMed
CA345328897 rs1364232569	202	I>T		No	ClinGen gnomAD
rs1380101337 CA345328871	206	N>D		No	ClinGen gnomAD
CA1427103 rs774378679	206	N>S		No	ClinGen ExAC gnomAD
CA1427101 rs148839966	211	M>R		No	ClinGen ESP ExAC gnomAD
rs770140214 CA1427099	215	I>T		No	ClinGen ExAC TOPMed gnomAD
rs781645541 CA1427097	216	R>Q		No	ClinGen ExAC gnomAD
rs746097856 CA1427098	216	R>W		No	ClinGen ExAC TOPMed gnomAD
CA345328725 rs1350931275	227	M>R		No	ClinGen gnomAD
CA345328729 rs1225322952	227	M>V		No	ClinGen gnomAD
rs1351435980 CA345328711	229	D>A		No	ClinGen TOPMed gnomAD
CA39093197 rs558912714	229	D>N		No	ClinGen Ensembl
CA345328699 rs1184464515	231	T>A		No	ClinGen TOPMed
CA1427095 rs34614709 RCV000955872 VAR_040831	231	T>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA345066271 rs1327724618	232	V>I		No	ClinGen TOPMed
rs770012571 CA1427080	233	Q>E		No	ClinGen ExAC gnomAD
rs776958792 CA1427078	236	V>M		No	ClinGen ExAC gnomAD
rs377562402 CA1427077	237	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1427074 rs758872354	238	V>G		No	ClinGen ExAC gnomAD
CA1427075 rs778066306	238	V>I		No	ClinGen ExAC gnomAD
rs748669001 CA1427073	244	I>V		No	ClinGen ExAC gnomAD
rs1462375311 CA345066038	249	L>H		No	ClinGen gnomAD
CA1427070 rs749977241	250	Q>E		No	ClinGen ExAC gnomAD
CA1427069 rs767178824	253	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1427068 rs756919561	256	K>R		No	ClinGen ExAC TOPMed gnomAD
CA345065909 rs763804648	261	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1427066 rs763804648	261	P>R		No	ClinGen ExAC TOPMed gnomAD
rs775595844 CA1427064	271	C>S		No	ClinGen ExAC TOPMed gnomAD
rs759663062 CA1427062	272	M>I		No	ClinGen ExAC TOPMed gnomAD
rs754167552 CA1427063	272	M>V		No	ClinGen ExAC TOPMed gnomAD
CA38663369 rs982558902	273	Y>C		No	ClinGen TOPMed
CA345065816 rs1349134588	274	E>G		No	ClinGen TOPMed
rs1308134775 CA345065787	278	G>R		No	ClinGen TOPMed
CA345065762 rs1558611696	282	F>L		No	ClinGen Ensembl
rs1558611670 CA345065742	284	A>V		No	ClinGen Ensembl
CA38663359 rs755712882	286	S>L		No	ClinGen TOPMed gnomAD
rs995133326 CA38663357	289	E>G		No	ClinGen TOPMed
CA345065646 rs1243330058	292	G>E		No	ClinGen gnomAD
rs1446265258 CA345065650	292	G>R		No	ClinGen TOPMed gnomAD
rs1035947552 CA38663341	295	M>V		No	ClinGen gnomAD
CA1427055 rs779364343	296	N>T		No	ClinGen ExAC gnomAD
CA345064554 rs1268755288	302	Q>H		No	ClinGen gnomAD
rs1490056131 CA345064559	302	Q>R		No	ClinGen gnomAD
CA345064531 rs1220935233	304	P>S		No	ClinGen gnomAD
rs1571959849 CA345064474	308	T>A		No	ClinGen Ensembl
CA345064454 rs1490927322	309	D>N		No	ClinGen gnomAD
rs1315336598 CA345064386	312	E>G		No	ClinGen gnomAD
CA1427045 rs759611795	312	E>Q		No	ClinGen ExAC gnomAD
rs1309471927 CA345064381	313	N>D		No	ClinGen gnomAD
CA1427044 rs753888930	315	K>E		No	ClinGen ExAC gnomAD
CA1427043 rs555027772	315	K>N		No	ClinGen ExAC TOPMed gnomAD
rs760904354 CA1427042	316	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1427041 rs773337354	319	R>*		No	ClinGen ExAC gnomAD
CA1427040 COSM1962393 COSM1962391 COSM1962392 COSM1962394 rs772380478	319	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs762144397 CA1427039	320	R>G		No	ClinGen ExAC gnomAD
CA345064149 rs1479797385	326	E>G		No	ClinGen TOPMed gnomAD
rs749804213 CA1427036	326	E>K		No	ClinGen ExAC gnomAD
rs1197812220 CA345064130	327	H>L		No	ClinGen gnomAD
CA345064136 rs1426612626	327	H>Y		No	ClinGen gnomAD
rs780699158 CA345064103 COSM159874 COSM159873	328	R>*	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200168774 CA38662571	336	D>N		No	ClinGen gnomAD
rs770376247 CA1427034	337	F>I		No	ClinGen ExAC gnomAD
CA1427033 rs746565410	338	K>R		No	ClinGen ExAC gnomAD
rs752533972 CA1427030	341	P>S		No	ClinGen ExAC gnomAD
rs778854433 CA1427029	344	S>N		No	ClinGen ExAC gnomAD
CA345063870 rs754904806	344	S>R		No	ClinGen ExAC gnomAD
CA345063864 rs1346041799	345	G>*		No	ClinGen gnomAD
CA345063840 rs1419923051	346	I>T		No	ClinGen TOPMed
rs894825371 CA38662545	347	D>E		No	ClinGen TOPMed
rs753741747 CA1427027	347	D>V		No	ClinGen ExAC gnomAD
CA345063830 rs1380276987	347	D>Y		No	ClinGen gnomAD
rs1363838227 CA345063815	348	W>R		No	ClinGen TOPMed
rs371923776 CA1427026	349	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs369437983 CA1427025	350	N>D		No	ClinGen ESP ExAC gnomAD
rs750566567 CA1427024	352	R>Q		No	ClinGen ExAC gnomAD
rs1023772335 CA38662535	354	C>Y		No	ClinGen Ensembl
rs762092933 CA1427022	359	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1193126155 CA345063623	363	S>R		No	ClinGen gnomAD
rs774634980 CA1427021	363	S>T		No	ClinGen ExAC gnomAD
CA345063588 rs1427046014	366	T>A		No	ClinGen gnomAD
CA38662527 rs111893322	367	D>G		No	ClinGen Ensembl
rs775826252 CA1427018	375	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1427017 rs147469048	380	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1426996 rs372428965	383	T>M		No	ClinGen ESP ExAC gnomAD
CA38661134 rs943979412	385	P>H		No	ClinGen TOPMed gnomAD
rs943979412 CA38661154	385	P>L		No	ClinGen TOPMed gnomAD
CA345062970 rs1558599377	385	P>S		No	ClinGen Ensembl
CA345062956 rs1320141825	387	P>R		No	ClinGen TOPMed
rs771728746 CA1426994	388	T>I		No	ClinGen ExAC gnomAD
CA38661102 rs201384556	389	H>Y		No	ClinGen Ensembl
rs1424372698 CA345062905	395	H>R		No	ClinGen gnomAD
rs774116796 CA1426992	396	H>Q		No	ClinGen ExAC
CA345062820 rs1165636000	407	S>R		No	ClinGen gnomAD
CA345062442 rs1276105202	409	V>A		No	ClinGen TOPMed
CA1426967 rs368245135	409	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426966 rs368245135	409	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1277159668 CA345062420	411	S>A		No	ClinGen gnomAD
CA345062402 rs1437585356	413	R>G		No	ClinGen TOPMed gnomAD
rs777832161 CA1426964	413	R>Q		No	ClinGen ExAC gnomAD
rs1437585356 CA345062401	413	R>W		No	ClinGen TOPMed gnomAD
rs201022380 CA1426963	415	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426962 rs752984714	419	T>A		No	ClinGen ExAC TOPMed gnomAD
rs370729750 CA1426961	419	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426959 rs370729750	419	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426960 rs370729750	419	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426957 rs761333678	420	A>V		No	ClinGen ExAC gnomAD
rs1475962314 CA345062354	421	G>C		No	ClinGen TOPMed
CA1426955 rs775242848	422	P>A		No	ClinGen ExAC gnomAD
rs775242848 CA1426953	422	P>S		No	ClinGen ExAC gnomAD
rs775242848 CA1426954	422	P>T		No	ClinGen ExAC gnomAD
CA1426951 rs759308906	423	T>P		No	ClinGen ExAC TOPMed gnomAD
rs776473390 CA1426950	423	T>S		No	ClinGen ExAC
rs759308906 CA1426952	423	T>S		No	ClinGen ExAC TOPMed gnomAD
rs746959974 CA1426948	424	S>P		No	ClinGen ExAC gnomAD
CA38659021 rs946285449	425	L>Q		No	ClinGen TOPMed
rs376300581 CA1426946	426	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs376300581 CA38659001	426	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs935517178 CA38658997	427	L>F		No	ClinGen gnomAD
rs1325111719 CA345062270	430	N>H		No	ClinGen TOPMed gnomAD
CA1426945 rs577257541	431	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345062225 rs1435552484	434	T>S		No	ClinGen TOPMed
CA1426944 rs373092459	436	D>H		No	ClinGen ESP ExAC gnomAD
rs755310510 CA1426943	437	N>S		No	ClinGen ExAC gnomAD
CA1426941 rs780571645	438	N>D		No	ClinGen ExAC gnomAD
rs1219452352 CA345062157	440	A>V		No	ClinGen TOPMed
rs1366159365 CA345062152	441	T>A		No	ClinGen gnomAD
CA1426939 rs750993097	442	E>A		No	ClinGen ExAC gnomAD
rs756634493 CA1426940	442	E>K		No	ClinGen ExAC gnomAD
rs1287097376 CA345062043	449	K>E		No	ClinGen TOPMed
COSM1200366 rs1326482468 COSM1200367 CA345062025 COSM1200365	450	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1426938 rs370050361	450	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426937 rs762497555	451	L>I		No	ClinGen ExAC gnomAD
CA345061959 rs1417369477	455	K>T		No	ClinGen gnomAD
CA38658972 rs982418476	456	L>V		No	ClinGen TOPMed gnomAD
CA1426933 rs776399718	459	S>C		No	ClinGen ExAC TOPMed gnomAD
rs776399718 CA1426934	459	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1261060679 CA345061868	462	L>F		No	ClinGen gnomAD
rs1261060679 CA345061867	462	L>V		No	ClinGen gnomAD
rs1462223386 CA345061858	463	Q>R		No	ClinGen gnomAD
CA1426919 rs781685820	466	T>R		No	ClinGen ExAC gnomAD
rs909331436 CA38653450	470	Q>E		No	ClinGen TOPMed
rs752250856 CA1426917	470	Q>R		No	ClinGen ExAC gnomAD
rs1259107108 CA345061555	471	A>V		No	ClinGen TOPMed
rs1352890868 CA345061533	473	Q>E		No	ClinGen TOPMed
rs754605375 CA1426915	473	Q>R		No	ClinGen ExAC gnomAD
rs985274764 CA38653436	476	T>A		No	ClinGen TOPMed gnomAD
rs753531226 CA1426914	476	T>N		No	ClinGen ExAC
CA1426913 rs766052381	477	V>A		No	ClinGen ExAC TOPMed gnomAD
rs376474097 CA1426912	478	D>G		No	ClinGen ESP ExAC gnomAD
CA345061470 rs1223256212	478	D>N		No	ClinGen gnomAD
CA345061462 rs1290078197	479	G>D		No	ClinGen TOPMed gnomAD
rs878860977 CA38653429	479	G>S		No	ClinGen Ensembl
rs1410366438 CA345061443	482	T>I		No	ClinGen gnomAD
CA38653420 rs1010472020	483	A>T		No	ClinGen gnomAD
CA345061434 rs1301039758	484	S>N		No	ClinGen gnomAD
rs867453947 CA38653417	484	S>R		No	ClinGen Ensembl
CA1426911 rs772895815	486	D>Y		No	ClinGen ExAC gnomAD
rs1416729189 CA345061366	493	K>R		No	ClinGen gnomAD
rs1182353682 CA345061343	496	I>T		No	ClinGen gnomAD
CA345061305 rs1268865281	500	R>S		No	ClinGen gnomAD
CA345061280 rs1571841522	502	Q>E		No	ClinGen Ensembl
rs139384904 CA1426908	503	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774474716 CA1426907	504	T>I		No	ClinGen ExAC gnomAD
CA345061241 rs1453787464	505	E>Q		No	ClinGen TOPMed
rs908933104 CA38649681	507	S>T		No	ClinGen Ensembl
CA1426882 rs770140412	511	Q>E		No	ClinGen ExAC gnomAD
CA345060537 rs1366881892	511	Q>R		No	ClinGen gnomAD
CA345060505 rs1451221072	515	E>D		No	ClinGen gnomAD
CA1426881 rs541049501	515	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1426880 rs777034871	516	A>T		No	ClinGen ExAC gnomAD
rs1468027046 CA345060461	519	V>E		No	ClinGen gnomAD
rs1571771495 CA345060466	519	V>L		No	ClinGen Ensembl
CA345060443 rs1228855662	520	R>M		No	ClinGen TOPMed
CA1426879 rs771241360	523	L>V		No	ClinGen ExAC
CA345060356 rs778204957	524	D>E		No	ClinGen ExAC TOPMed gnomAD
rs913249886 CA38649655	525	D>E		No	ClinGen TOPMed
rs200713147 CA1426876	525	D>N		No	ClinGen 1000Genomes ExAC TOPMed
CA345060296 rs1170148482	527	F>L		No	ClinGen gnomAD
rs1256179224 CA345060264	529	Q>L		No	ClinGen TOPMed
CA1426874 rs779605175 COSM48280	530	I>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1254160291 CA345060196	532	A>D		No	ClinGen gnomAD
CA1426872 rs201130103	532	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1483525549 CA345060180	533	Y>C		No	ClinGen gnomAD
rs781006054 CA345060119	536	Q>*		No	ClinGen ExAC gnomAD
rs781006054 CA1426870	536	Q>K		No	ClinGen ExAC gnomAD
CA1426869 rs375140296	537	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs56364976 CA38649635 VAR_040832	537	I>T		No	ClinGen UniProt Ensembl dbSNP
rs751418063 CA1426868	538	K>I		No	ClinGen ExAC TOPMed gnomAD
rs751418063 CA345060096	538	K>R		No	ClinGen ExAC TOPMed gnomAD
COSM174500 CA1426867 COSM174499 rs375379778	539	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1426865 rs752814170	541	Q>E		No	ClinGen ExAC gnomAD
CA1426864 rs765459724	542	Q>E		No	ClinGen ExAC
CA1426863 rs759775286	542	Q>R		No	ClinGen ExAC gnomAD
CA345060064 rs1428150572	543	E>G		No	ClinGen gnomAD
CA345060066 rs1298123628	543	E>K		No	ClinGen gnomAD
CA345060029 rs1444219882	548	N>S		No	ClinGen gnomAD
CA345060023 rs1366988929	549	K>E		No	ClinGen gnomAD
COSM146804 rs373723564 CA1426849	555	S>C	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1455534302 CA345058877	555	S>T		No	ClinGen TOPMed
rs1176626197 CA345058865	556	E>G		No	ClinGen TOPMed
COSM904854 rs758392312 CA1426848 COSM904855	557	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA345058859 rs1413461960	557	R>Q		No	ClinGen Ensembl
rs752725854 CA1426847	561	Q>R		No	ClinGen ExAC gnomAD
rs1018370820 CA38646897	562	S>C		No	ClinGen gnomAD
CA1426845 rs759486214	564	E>D		No	ClinGen ExAC gnomAD
CA345058785 rs1382677119	568	A>T		No	ClinGen TOPMed gnomAD
rs766444066 CA1426843	569	H>R		No	ClinGen ExAC gnomAD
CA1426842 rs760954062	570	C>Y		No	ClinGen ExAC gnomAD
rs1388982750 CA345058761	571	Q>R		No	ClinGen TOPMed
CA345058735 rs1454855829	575	A>S		No	ClinGen gnomAD
rs773551047 CA345058730	576	M>L		No	ClinGen ExAC gnomAD
CA1426841 rs773551047	576	M>V		No	ClinGen ExAC gnomAD
rs1439687629 CA345058721	577	Q>*		No	ClinGen TOPMed
CA345058702 rs1380367470	579	F>C		No	ClinGen TOPMed gnomAD
CA345058696 rs1229748760	580	M>T		No	ClinGen gnomAD
rs772472208 CA1426840	580	M>V		No	ClinGen ExAC TOPMed gnomAD
CA38646868 rs867891968	581	E>K		No	ClinGen Ensembl
rs762275055 CA1426839	582	I>M		No	ClinGen ExAC gnomAD
rs774796796 CA1426838	583	N>S		No	ClinGen ExAC TOPMed gnomAD
CA38646862 rs769225215	585	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1426837 rs769225215	585	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA38646867 rs957907145	585	R>W		No	ClinGen gnomAD
rs1325702113 CA345058655	587	T>P		No	ClinGen gnomAD
rs745310972 CA1426836	589	L>S		No	ClinGen ExAC gnomAD
CA1426835 rs776206014	590	H>P		No	ClinGen ExAC gnomAD
rs1157009073 CA345058628	591	T>A		No	ClinGen gnomAD
CA529464821 rs1458925878	591	T>ILYY*		No	ClinGen gnomAD
rs1428928244 CA345058620	592	Q>P		No	ClinGen gnomAD
rs1175630670 CA345058612	593	K>R		No	ClinGen gnomAD
rs1476878567 CA345058602	594	Q>R		No	ClinGen gnomAD
rs1159309477 CA345058589	596	L>F		No	ClinGen gnomAD
CA345058583 rs1572881912	597	A>S		No	ClinGen Ensembl
CA1426832 rs777682348	597	A>V		No	ClinGen ExAC gnomAD
CA38646857 rs1032551894	598	R>C		No	ClinGen TOPMed gnomAD
CA1426831 rs747979605	598	R>H		No	ClinGen ExAC TOPMed gnomAD
rs747979605 CA1426830	598	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1426828 rs754947527	601	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA345058525 rs1269256981	606	E>*		No	ClinGen gnomAD
CA1426827 rs753859062	608	D>N		No	ClinGen ExAC gnomAD
CA1426825 rs756306937	611	M>L		No	ClinGen ExAC TOPMed gnomAD
rs756306937 CA345058461	611	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1364694205 CA345058418	613	K>E		No	ClinGen gnomAD
rs1318807837 CA345058402	613	K>N		No	ClinGen gnomAD
CA38646821 rs780676383	617	L>V		No	ClinGen Ensembl
CA1426823 rs767756197	621	L>P		No	ClinGen ExAC gnomAD
CA1426822 rs762113623	622	R>H		No	ClinGen ExAC gnomAD
CA345058224 rs1333664280	624	T>I		No	ClinGen gnomAD
CA345058229 rs1333664280	624	T>K		No	ClinGen gnomAD
rs1427242987 CA345058210	625	E>G		No	ClinGen gnomAD
rs1412672975 CA345058220	625	E>K		No	ClinGen gnomAD
CA345058205 rs1172914393	626	R>G		No	ClinGen gnomAD
CA345058201 rs1474977310	626	R>K		No	ClinGen gnomAD
CA345058184 rs754619237	627	A>D		No	ClinGen gnomAD
rs754619237 CA38646810	627	A>G		No	ClinGen gnomAD
CA345058191 rs1387887603	627	A>T		No	ClinGen gnomAD
CA1426820 rs567456933	628	K>E		No	ClinGen ExAC gnomAD
rs373889815 CA1426798	631	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426797 rs763341741	633	V>A		No	ClinGen ExAC gnomAD
CA345058021 rs1179579889	633	V>L		No	ClinGen gnomAD
rs570659357 CA1426796	634	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA345058015 rs1239662964	634	H>Y		No	ClinGen gnomAD
CA38646679 rs960215752	635	T>A		No	ClinGen TOPMed gnomAD
rs760207035 CA1426794	635	T>I		No	ClinGen ExAC TOPMed gnomAD
CA1426795 rs760207035	635	T>R		No	ClinGen ExAC TOPMed gnomAD
CA345057992 rs1356652826	638	L>V		No	ClinGen gnomAD
CA345057983 rs1360097735	639	A>G		No	ClinGen TOPMed
CA345057970 rs1275431737	641	E>D		No	ClinGen TOPMed
CA1426793 rs772855370	642	A>V		No	ClinGen ExAC gnomAD
rs1312316264 CA345057954	644	K>T		No	ClinGen gnomAD
rs771846936 CA1426792	645	D>E		No	ClinGen ExAC gnomAD
rs1035702711 CA38646667	646	R>T		No	ClinGen TOPMed
CA1426791 rs761586028	648	L>P		No	ClinGen ExAC gnomAD
CA345057923 rs1409129749	649	R>C		No	ClinGen TOPMed gnomAD
CA345057924 rs1409129749	649	R>G		No	ClinGen TOPMed gnomAD
CA1426789 rs768536226	649	R>H		No	ClinGen ExAC TOPMed gnomAD
CA345057883 rs1248832218	654	H>P		No	ClinGen gnomAD
rs1406532969 CA345057872	655	Y>*		No	ClinGen gnomAD
rs1188706404 CA345057875	655	Y>C		No	ClinGen TOPMed
CA345057862 rs1413879169	657	K>T		No	ClinGen gnomAD
rs1472536063 CA345057835	661	N>D		No	ClinGen gnomAD
CA1426784 rs781312341	661	N>K		No	ClinGen ExAC TOPMed gnomAD
rs199746122 CA1426783	662	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345057821 rs531074696	663	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs758743543 CA1426780	665	G>R		No	ClinGen ExAC gnomAD
rs755520309 CA1426759	668	Q>R		No	ClinGen ExAC gnomAD
rs1024016447 CA38641684	670	Q>P		No	ClinGen TOPMed
CA1426758 rs754436648	672	S>R		No	ClinGen ExAC gnomAD
CA345054511 rs1390208680	674	S>P		No	ClinGen gnomAD
COSM904853 COSM904852 rs767024673 CA1426757 COSM904851	675	P>T	endometrium breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751043337 CA1426755	678	C>G		No	ClinGen ExAC TOPMed gnomAD
rs751043337 CA345054489	678	C>R		No	ClinGen ExAC TOPMed gnomAD
CA345054487 rs1174363696	678	C>Y		No	ClinGen gnomAD
CA1426753 rs140818561	680	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA345054465 rs1463763466	681	E>A		No	ClinGen gnomAD
CA1426752 rs775248343	681	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1558499402 CA345054457	682	H>R		No	ClinGen Ensembl
rs1249962663 CA345054452	683	Q>E		No	ClinGen gnomAD
rs1365152471 CA345054444	684	Q>E		No	ClinGen TOPMed
CA1426751 rs765062142	686	I>M		No	ClinGen ExAC TOPMed gnomAD
rs201126700 CA1426750	689	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1482866643 CA345054408	689	L>V		No	ClinGen gnomAD
CA345054405 rs1572815939	690	K>E		No	ClinGen Ensembl
CA345054393 rs1312568156	691	T>A		No	ClinGen gnomAD
rs957667775 CA38641625	692	D>N		No	ClinGen Ensembl
rs776506992 CA1426749	693	L>F		No	ClinGen ExAC gnomAD
rs1225724995 CA345054325	695	K>Q		No	ClinGen gnomAD
CA345054293 rs1366988868	696	K>R		No	ClinGen TOPMed gnomAD
rs1297668773 CA345054275	697	S>N		No	ClinGen gnomAD
CA345054256 rs1423297288	698	I>T		No	ClinGen TOPMed
CA1426748 rs142697103	698	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs201979872 CA1426746	700	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs772327041 CA1426745	702	E>K		No	ClinGen ExAC gnomAD
rs1447862738 CA345054126	705	S>C		No	ClinGen TOPMed gnomAD
CA345054113 rs1392295114	706	K>E		No	ClinGen gnomAD
CA345054036 rs1327219853	710	I>V		No	ClinGen TOPMed
rs373530803 CA1426744	711	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs755353652 CA345053972	712	A>E		No	ClinGen ExAC gnomAD
rs755353652 CA1426742	712	A>G		No	ClinGen ExAC gnomAD
CA1426743 rs779388186	712	A>T		No	ClinGen ExAC gnomAD
rs1002394875 CA38641544	713	N>S		No	ClinGen TOPMed
CA345053919 rs1183529697	715	I>V		No	ClinGen TOPMed gnomAD
CA345053811 rs1357359762	718	L>F		No	ClinGen TOPMed
CA345053789 rs1273634664	719	K>Q		No	ClinGen gnomAD
rs749690304 CA1426740	723	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1243374130 CA345053573	727	G>D		No	ClinGen gnomAD
CA1426739 rs780550201	727	G>S		No	ClinGen ExAC gnomAD
CA345053554 rs1338210314	728	Q>H		No	ClinGen gnomAD
rs1311127538 CA345053512	731	A>T		No	ClinGen gnomAD
rs756580491 CA1426738	731	A>V		No	ClinGen ExAC gnomAD
rs750029179 CA38641514	732	L>P		No	ClinGen Ensembl
CA1426736 rs763568333	732	L>V		No	ClinGen ExAC gnomAD
rs1292376680 CA345053481	733	N>H		No	ClinGen TOPMed
CA1426735 rs758043675	734	K>E		No	ClinGen ExAC gnomAD
CA1426734 rs752310381	735	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA1426733 rs764895294	737	M>I		No	ClinGen ExAC gnomAD
CA345053372 rs764895294	737	M>I		No	ClinGen ExAC gnomAD
rs1366792119 CA345053333	740	K>R		No	ClinGen gnomAD
rs759273809 CA1426732	741	D>E		No	ClinGen ExAC TOPMed gnomAD
CA38641478 rs3939280	741	D>N		No	ClinGen gnomAD
rs1193891071 CA345053314	741	D>V		No	ClinGen TOPMed
CA38641459 rs200068494	744	E>G		No	ClinGen 1000Genomes
rs1182529019 CA345053239	745	K>N		No	ClinGen TOPMed
rs766336543 CA1426730	746	T>N		No	ClinGen ExAC TOPMed gnomAD
CA1426729 rs760587783	749	E>D		No	ClinGen ExAC gnomAD
rs773321476 CA1426728	750	S>G		No	ClinGen ExAC TOPMed gnomAD
CA38635260 rs761926514	751	Q>*		No	ClinGen ExAC gnomAD
CA1426707 rs774577218	751	Q>H		No	ClinGen ExAC gnomAD
rs761926514 CA1426708	751	Q>K		No	ClinGen ExAC gnomAD
rs1054708460 CA345051723	751	Q>P		No	ClinGen TOPMed gnomAD
rs1054708460 CA38635256	751	Q>R		No	ClinGen TOPMed gnomAD
rs1408677004 CA345051686	756	E>G		No	ClinGen TOPMed gnomAD
rs768991411 CA1426706	756	E>K		No	ClinGen ExAC TOPMed gnomAD
CA345051672 rs1572752146	758	E>Q		No	ClinGen Ensembl
CA345051660 rs1479236384	759	S>R		No	ClinGen gnomAD
rs770731771 CA1426705 COSM169099 COSM169098	762	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1476930195 CA345051631	763	Q>R		No	ClinGen gnomAD
rs1193882077 CA345051601	767	R>Q		No	ClinGen gnomAD
rs746745706 CA1426703	771	L>F		No	ClinGen ExAC TOPMed gnomAD
rs746269145 CA1426701	775	E>G		No	ClinGen ExAC gnomAD
rs934403029 CA38635217	776	N>H		No	ClinGen TOPMed gnomAD
rs56119119 VAR_045583 CA1426700 COSM378919 COSM378918 COSM378917	780	T>M	lung [Cosmic]	No	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
CA1426697 rs778454200	781	S>C		No	ClinGen ExAC TOPMed gnomAD
rs754603476 CA1426696	782	E>K		No	ClinGen ExAC
rs1235296945 CA345051455	783	L>P		No	ClinGen gnomAD
rs763233439 CA1426684	788	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1426683 rs775531988	788	T>N		No	ClinGen ExAC gnomAD
rs759755364 CA1426681	789	L>S		No	ClinGen ExAC TOPMed gnomAD
RCV000889092 rs34943764 CA1426680 VAR_045584	790	Y>C		No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1368266334 CA345065286	791	E>G		No	ClinGen gnomAD
rs1172108750 CA345065262	792	N>K		No	ClinGen gnomAD
CA345065255 rs1403494792	793	L>S		No	ClinGen TOPMed
rs986004776 CA38660447	794	S>T		No	ClinGen Ensembl
CA345065179 rs1457088345	798	Q>E		No	ClinGen TOPMed
rs1203486552 CA345065162	799	Q>K		No	ClinGen gnomAD
CA1426679 rs376208066	801	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs372769573 CA1426678	802	E>K		No	ClinGen ESP ExAC gnomAD
rs953200749 CA38660408	807	L>Q		No	ClinGen Ensembl
rs1260263011 CA345064992	807	L>V		No	ClinGen gnomAD
rs768116427 CA1426675	808	A>G		No	ClinGen ExAC TOPMed gnomAD
rs768116427 CA1426676	808	A>V		No	ClinGen ExAC TOPMed gnomAD
CA345064948 rs1482939887	809	D>G		No	ClinGen TOPMed gnomAD
rs1032924301 CA38660397	809	D>N		No	ClinGen Ensembl
rs1249805630 CA345064922	810	K>R		No	ClinGen gnomAD
rs1000067521 CA38660385	811	K>E		No	ClinGen TOPMed gnomAD
CA345064840 rs1308359913	813	S>L		No	ClinGen gnomAD
CA345064816 rs1275418508	814	V>G		No	ClinGen TOPMed
CA345064785 rs1328379411	816	H>Y		No	ClinGen TOPMed
CA345064732 rs1304724877	818	E>Q		No	ClinGen gnomAD
CA38660374 rs903074873	819	A>G		No	ClinGen Ensembl
COSM1501409 CA38660375 rs924052956 COSM1501408 COSM1501407	819	A>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA38660372 rs865781448	820	Q>E		No	ClinGen Ensembl
CA345064671 rs1289212351	820	Q>H		No	ClinGen gnomAD
rs1289212351 CA345064673	820	Q>H		No	ClinGen gnomAD
CA38660358 rs954896167	821	I>M		No	ClinGen TOPMed
rs368909157 CA1426672	821	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs748854528 CA1426673	821	I>V		No	ClinGen ExAC gnomAD
CA345064649 rs1293855332	822	T>S		No	ClinGen TOPMed gnomAD
rs1348403910 CA345064610	824	I>M		No	ClinGen gnomAD
CA345064618 rs1264781960	824	I>V		No	ClinGen TOPMed
COSM98872 CA1426670 rs77122651	825	I>L	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1457154832 CA345063233	828	V>G		No	ClinGen gnomAD
rs543003206 CA1426650	828	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1426649 rs575953988	829	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA38656596 rs1054608071	830	D>G		No	ClinGen Ensembl
CA1426647 COSM210197 rs757075704 COSM210196	830	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA345063217 rs1239380247	831	E>K		No	ClinGen gnomAD
CA345063207 rs1156523923	832	K>E		No	ClinGen TOPMed
rs1455800847 CA345063192	834	A>T		No	ClinGen gnomAD
CA38656590 COSM1668525 COSM1668527 COSM1668524 COSM1668526 rs746759258	835	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs746759258 CA1426645	835	R>G		No	ClinGen ExAC gnomAD
CA38656586 rs879775085	835	R>Q		No	ClinGen TOPMed gnomAD
rs752710286 CA1426643	836	G>R		No	ClinGen ExAC gnomAD
CA345063179 rs1391615102	837	Y>N		No	ClinGen TOPMed
CA345063153 rs1311390931	840	A>D		No	ClinGen gnomAD
CA1426639 rs554810044	845	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1426638 rs376559124	846	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360431816 CA345063079	851	A>T		No	ClinGen gnomAD
CA1426635 rs762439998	856	S>C		No	ClinGen ExAC gnomAD
CA345063033 rs1572641402	857	L>F		No	ClinGen Ensembl
CA345063029 rs1172230101	858	G>C		No	ClinGen TOPMed gnomAD
CA345063030 rs1172230101	858	G>S		No	ClinGen TOPMed gnomAD
CA345063021 rs1375237532	859	T>I		No	ClinGen Ensembl
rs774836509 CA1426634	860	R>Q		No	ClinGen ExAC gnomAD
rs1572641311 CA345063014	861	A>P		No	ClinGen Ensembl
CA38656539 rs1042527874	862	T>A		No	ClinGen gnomAD
CA1426611 rs760456545	864	M>R		No	ClinGen ExAC gnomAD
CA345062761 rs1270847538	868	M>V		No	ClinGen TOPMed
rs772856713 CA1426610	870	R>H		No	ClinGen ExAC gnomAD
COSM1501411 COSM1501410 CA38656288 rs758501021 COSM1501412	872	A>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1426608 rs747918994	875	D>G		No	ClinGen ExAC
rs747888381 CA38656275	883	Q>H		No	ClinGen Ensembl
rs747888381 CA345062639	883	Q>H		No	ClinGen Ensembl
rs144801895 CA1426607	884	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA345062610 rs906715772	888	A>G		No	ClinGen TOPMed gnomAD
rs906715772 CA38656254	888	A>V		No	ClinGen TOPMed gnomAD
rs895269402 CA38656227	903	V>A		No	ClinGen TOPMed
CA345062487 rs1168791025	905	A>V		No	ClinGen Ensembl
CA345062479 rs1250820541	907	N>D		No	ClinGen gnomAD
rs1463753527 CA345062464	909	I>V		No	ClinGen Ensembl
CA345062437 rs1466750804	911	E>G		No	ClinGen gnomAD
CA38656208 rs199653014	912	C>S		No	ClinGen TOPMed gnomAD
rs1193673271 CA345062283	916	D>E		No	ClinGen gnomAD
rs1396533181 CA345062295	916	D>N		No	ClinGen gnomAD
CA345062272 rs1241986928	917	S>*		No	ClinGen gnomAD
CA1426577 rs369524727	917	S>A		No	ClinGen ESP ExAC gnomAD
rs200440295 CA38655367	919	K>T		No	ClinGen Ensembl
CA1426575 rs765867915	920	K>N		No	ClinGen ExAC TOPMed gnomAD
CA345062205 rs1191648702	920	K>R		No	ClinGen gnomAD
rs1262829442 CA345062175	922	L>V		No	ClinGen gnomAD
rs1210678987 CA345062133	925	L>V		No	ClinGen TOPMed gnomAD
rs1558431040 CA345062070	929	E>G		No	ClinGen Ensembl
CA345062074 rs1558431063	929	E>K		No	ClinGen Ensembl
rs573823491 CA38655348	933	K>N		No	ClinGen 1000Genomes
rs761429184 CA1426571	935	T>I		No	ClinGen ExAC gnomAD
CA38655341 rs1022118984	936	E>K		No	ClinGen Ensembl
CA1426570 rs763915946	937	E>D		No	ClinGen ExAC TOPMed gnomAD
CA345061933 rs1327008141	939	R>K		No	ClinGen gnomAD
CA1426567 rs775353297	940	S>C		No	ClinGen ExAC gnomAD
CA1426568 rs762768474	940	S>T		No	ClinGen ExAC gnomAD
rs1376826810 CA345061900	942	K>E		No	ClinGen gnomAD
CA1426546 rs762674761	945	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA1426545 rs775265289	947	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs759443180 CA1426543	949	S>A		No	ClinGen ExAC TOPMed gnomAD
rs759443180 CA1426544	949	S>T		No	ClinGen ExAC TOPMed gnomAD
CA345061783 rs1364435167	951	H>D		No	ClinGen gnomAD
rs776744119 CA1426542	951	H>R		No	ClinGen ExAC gnomAD
CA1426541 rs761428585	952	S>A		No	ClinGen ExAC TOPMed gnomAD
CA1426540 rs548551223	959	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773510536 CA1426539	961	T>A		No	ClinGen ExAC gnomAD
rs1442223117 CA345061709	962	D>G		No	ClinGen gnomAD
CA1426538 rs373478290	962	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1460321551 CA345061701	963	A>G		No	ClinGen gnomAD
CA345061704 rs1323383665	963	A>P		No	ClinGen gnomAD
CA345061674 rs1397356411	967	F>S		No	ClinGen gnomAD
rs1467259218 CA345061669	968	E>K		No	ClinGen TOPMed
CA1426509 rs562010297	969	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345061617 rs562010297	969	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1426508 rs758017331	969	R>H		No	ClinGen ExAC TOPMed gnomAD
CA345061613 rs758017331	969	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1426507 rs112167411	970	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212575399 CA345061593	971	P>L		No	ClinGen gnomAD
CA38648872 rs934510773	975	P>A		No	ClinGen Ensembl
CA38648871 rs868119638	975	P>Q		No	ClinGen Ensembl
rs1211286626 CA345061547	976	A>P		No	ClinGen TOPMed
rs1324790457 CA345061537	977	S>G		No	ClinGen TOPMed gnomAD
rs1572543153 CA345061517	978	K>I		No	ClinGen Ensembl
rs1022494980 CA38648870	979	G>S		No	ClinGen TOPMed gnomAD
rs754671536 CA1426505	981	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200398305 CA1426504	981	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758448482 CA1426442	982	T>A		No	ClinGen ExAC gnomAD
CA345060762 rs1340894914	982	T>I		No	ClinGen gnomAD
rs1340894914 CA345060761	982	T>N		No	ClinGen gnomAD
rs752724651 CA345060759	983	V>I		No	ClinGen ExAC TOPMed gnomAD
rs752724651 CA1426441	983	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1426440 rs150700769	984	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345060744 rs1240012314	985	S>C		No	ClinGen gnomAD
CA38640600 rs1011027354	987	P>L		No	ClinGen gnomAD
CA345060718 rs1408870341	990	V>I		No	ClinGen gnomAD
CA345060701 rs1396334130	992	T>K		No	ClinGen gnomAD
CA345060691 rs1169146739	994	T>A		No	ClinGen TOPMed gnomAD
CA1426439 rs755256270	996	R>K		No	ClinGen ExAC gnomAD
CA345060668 rs1363085969	997	K>I		No	ClinGen TOPMed
rs750891069 CA1426435	1000	C>R		No	ClinGen ExAC gnomAD
rs750891069 CA345060650	1000	C>S		No	ClinGen ExAC gnomAD
rs767919813 CA1426434	1000	C>Y		No	ClinGen ExAC
rs199543596 CA1426433	1002	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1210823073 CA345060638	1002	G>R		No	ClinGen gnomAD
CA1426432 COSM425480 COSM425482 COSM425481 rs775202925	1003	S>*	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1426431 rs769555826	1004	T>A		No	ClinGen ExAC TOPMed
CA38640556 rs866954290	1005	G>D		No	ClinGen TOPMed
rs866954290 CA38640555	1005	G>V		No	ClinGen TOPMed
rs1272259551 CA345060605	1008	P>A		No	ClinGen gnomAD
rs776366075 CA1426408	1010	R>C		No	ClinGen ExAC TOPMed gnomAD
rs140416725 CA1426407	1010	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345059983 rs1558350990	1011	K>R		No	ClinGen Ensembl
CA1426406 rs760514984	1014	Q>K		No	ClinGen ExAC gnomAD
rs1252520047 CA345059882	1018	K>R		No	ClinGen gnomAD
rs1022072765 CA38635003	1020	F>S		No	ClinGen TOPMed
CA345059850 rs1189393005	1021	T>A		No	ClinGen gnomAD
CA38635002 rs202057695	1021	T>I		No	ClinGen Ensembl
rs772938326 CA345059839	1022	T>A		No	ClinGen ExAC TOPMed gnomAD
rs772938326 CA1426405	1022	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1016125729 CA38635000	1023	P>S		No	ClinGen Ensembl
rs1009229448 CA38634999	1025	K>R		No	ClinGen TOPMed
CA38634994 rs868694705	1029	C>G		No	ClinGen Ensembl
CA345059682 rs1444878871	1030	T>N		No	ClinGen gnomAD
CA1426401 rs774306418	1031	S>A		No	ClinGen ExAC TOPMed gnomAD
CA345059634 rs1558350642	1032	L>F		No	ClinGen Ensembl
CA38634960 rs112933697	1040	G>S		No	ClinGen Ensembl
rs749380896 CA1426399	1041	C>S		No	ClinGen ExAC TOPMed gnomAD
CA38634955 rs749380896	1041	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1463704503 CA345059396	1042	S>L		No	ClinGen Ensembl
rs1400809870 CA345058435	1051	H>R		No	ClinGen gnomAD
CA1426380 rs767179248	1052	I>V		No	ClinGen ExAC TOPMed gnomAD
CA345058413 rs1467649026	1053	T>S		No	ClinGen gnomAD
CA1426378 rs774212728	1055	V>A		No	ClinGen ExAC gnomAD
CA345058379 rs1476837393	1056	N>K		No	ClinGen gnomAD
rs142183701 CA1426377	1057	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142183701 CA38631589	1057	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345058314 rs1474655507	1062	C>F		No	ClinGen gnomAD
rs1253653572 CA345058281	1065	P>L		No	ClinGen gnomAD
rs751188943 CA1426375	1069	T>R		No	ClinGen ExAC TOPMed gnomAD
rs763763074 CA38631555	1074	G>S		No	ClinGen Ensembl
CA345058178 rs1572393198	1075	I>V		No	ClinGen Ensembl
rs1250339368 CA345058164	1076	D>G		No	ClinGen gnomAD
rs1198540235 CA345058156	1077	P>A		No	ClinGen gnomAD
rs1198540235 CA345058155 COSM3764163 COSM3764161 COSM3764159	1077	P>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs200344808 CA1426369	1081	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778421367 CA1426368	1083	T>A		No	ClinGen ExAC gnomAD
rs753377530 CA1426367	1085	Y>C		No	ClinGen ExAC gnomAD
rs753377530 CA1426366	1085	Y>F		No	ClinGen ExAC gnomAD
rs753377530 CA38631518	1085	Y>S		No	ClinGen ExAC gnomAD
CA345058076 rs1558338514	1086	E>G		No	ClinGen Ensembl
CA345058068 rs1297732767	1087	G>A		No	ClinGen gnomAD
CA38631511 rs962674790	1089	V>L		No	ClinGen Ensembl
CA345057776 rs1444661700	1091	I>V		No	ClinGen gnomAD
rs775607289 CA1426354	1092	P>S		No	ClinGen ExAC gnomAD
CA1426353 COSM3710623 COSM3710621 COSM3710624 rs769721476	1095	A>T	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1440169130 CA345057745	1096	G>R		No	ClinGen gnomAD
rs747366360 CA1426349	1101	W>C		No	ClinGen ExAC TOPMed gnomAD
CA1426350 rs771348227	1101	W>L		No	ClinGen ExAC TOPMed gnomAD
rs1297880193 CA345057686	1104	A>G		No	ClinGen TOPMed
CA345057679 rs1344029254	1106	A>T		No	ClinGen TOPMed
CA345057673 rs1231879531	1107	I>V		No	ClinGen TOPMed
rs1179808602 CA345057650	1110	D>Y		No	ClinGen gnomAD
CA345057643 rs1166639003	1111	F>L		No	ClinGen TOPMed gnomAD
CA345057637 rs1451576789	1111	F>L		No	ClinGen gnomAD
rs779499730 CA345057627	1113	L>F		No	ClinGen ExAC gnomAD
rs779499730 CA1426345	1113	L>V		No	ClinGen ExAC gnomAD
CA1426342 rs780700909	1116	Y>C		No	ClinGen ExAC gnomAD
rs751330332 CA1426340	1117	D>N		No	ClinGen ExAC TOPMed gnomAD
CA345057593 rs1232417517	1118	I>T		No	ClinGen gnomAD
CA1426339 rs763915894	1118	I>V		No	ClinGen ExAC gnomAD
CA38630987 rs941541842	1122	K>R		No	ClinGen TOPMed gnomAD
rs1193460304 CA345057551	1125	Q>E		No	ClinGen TOPMed
CA345057536 rs1478493043	1127	S>G		No	ClinGen gnomAD
rs1383718398 CA345057532	1127	S>T		No	ClinGen gnomAD
rs1295948160 CA345057525	1128	V>D		No	ClinGen gnomAD
rs1421210412 CA345057520	1129	V>F		No	ClinGen gnomAD
CA1426337 rs752526216	1130	I>T		No	ClinGen ExAC gnomAD
CA1426334 rs776831989	1134	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1572388747 CA345057487	1134	I>V		No	ClinGen Ensembl
rs1263009928 CA345057469	1136	M>I		No	ClinGen gnomAD
CA1426333 rs771256445	1136	M>T		No	ClinGen ExAC gnomAD
CA345057473 rs1201389086	1136	M>V		No	ClinGen gnomAD
CA345057368 rs1174827155	1138	D>V		No	ClinGen gnomAD
CA38629918 rs867335953	1139	E>*		No	ClinGen Ensembl
rs758131715 CA1426319	1143	V>L		No	ClinGen ExAC gnomAD
rs758131715 CA1426320	1143	V>M		No	ClinGen ExAC gnomAD
CA1426316 rs754992286	1145	S>L		No	ClinGen ExAC gnomAD
rs56219089 VAR_045585 CA1426314	1148	A>T		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs760863090 CA1426313	1148	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1162391049 CA345057218	1149	S>F		No	ClinGen TOPMed
COSM3804127 COSM3804129 rs773514549 CA1426312 COSM3804131	1150	D>E	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA345057199 rs1280907320	1151	V>I		No	ClinGen gnomAD
CA345057167 rs1558332832	1153	H>R		No	ClinGen Ensembl
CA345057141 rs1388388338	1155	S>N		No	ClinGen TOPMed
CA345057147 rs1255861839	1155	S>R		No	ClinGen gnomAD
CA1426309 rs373550338	1156	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs891201776 CA38629854	1156	R>W		No	ClinGen TOPMed gnomAD
rs1028403510 CA38629817	1158	D>G		No	ClinGen TOPMed
rs769019338 CA1426308	1159	I>V		No	ClinGen ExAC gnomAD
rs749838500 CA1426307	1160	P>L		No	ClinGen ExAC gnomAD
COSM309979 COSM309978 CA1426305 rs770377807 COSM309980	1162	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1426282 rs554882432	1166	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554882432 CA1426283	1166	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775915448 CA1426284	1166	T>S		No	ClinGen ExAC gnomAD
CA1426281 rs772758432	1167	A>S		No	ClinGen ExAC gnomAD
CA345056629 rs1290163349	1169	Q>H		No	ClinGen gnomAD
CA345056586 rs1310861955	1176	K>E		No	ClinGen gnomAD
rs1265818718 CA345056566	1178	S>L		No	ClinGen gnomAD
rs778454682 CA1426278	1179	I>T		No	ClinGen ExAC gnomAD
rs1193452368 CA345056564	1179	I>V		No	ClinGen TOPMed gnomAD
rs768442497 CA1426277	1181	M>I		No	ClinGen ExAC gnomAD
rs1374721879 CA345056553	1181	M>V		No	ClinGen gnomAD
CA1426276 rs749104475	1183	A>S		No	ClinGen ExAC gnomAD
rs965995151 CA38628528	1184	D>A		No	ClinGen Ensembl
rs780139970 CA1426275	1184	D>E		No	ClinGen ExAC TOPMed gnomAD
CA38628524 rs911831012	1185	T>A		No	ClinGen TOPMed
CA345056513 rs1303977501	1187	N>S		No	ClinGen gnomAD
CA345056506 rs1403238891	1188	E>A		No	ClinGen TOPMed
rs1282754060 CA345056489	1190	N>S		No	ClinGen TOPMed
rs1419373769 CA345056485	1191	K>E		No	ClinGen gnomAD
CA345056472 rs1358682100	1192	W>L		No	ClinGen TOPMed gnomAD
rs565728340 CA1426274	1193	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1419562894 CA345056459	1194	G>A		No	ClinGen gnomAD
rs1424384730 CA345056456	1195	V>M		No	ClinGen gnomAD
rs1189181812 CA345056441	1197	S>I		No	ClinGen gnomAD
rs750503905 CA1426273	1199	L>S		No	ClinGen ExAC TOPMed gnomAD
CA1426272 rs781371003	1203	L>F		No	ClinGen ExAC TOPMed gnomAD
rs757310346 CA1426271	1205	K>E		No	ClinGen ExAC gnomAD
rs1287003713 CA345056373	1206	N>K		No	ClinGen TOPMed
rs1287478044 CA345056368	1207	K>R		No	ClinGen TOPMed gnomAD
CA1426268 rs763236695	1208	F>L		No	ClinGen ExAC gnomAD
CA1426269 rs376106816	1208	F>Y		No	ClinGen ESP ExAC gnomAD
rs181637825 CA1426267	1209	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA345056357 rs1267592120	1209	R>K		No	ClinGen TOPMed
CA1426266 rs373032133	1211	R>C		No	ClinGen ExAC TOPMed gnomAD
rs961490 COSM146803 VAR_045586 CA1426264 RCV000973462	1211	R>H	stomach [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs961490 CA1426265	1211	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1426261 rs558334936	1214	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1469476943 CA345056312	1216	P>H		No	ClinGen TOPMed
rs780039718 CA1426258	1221	D>G		No	ClinGen ExAC TOPMed gnomAD
CA345056265 rs1572368433	1223	T>P		No	ClinGen Ensembl
CA345056247 rs1173859851	1226	L>I		No	ClinGen gnomAD
rs769820283 CA1426257	1227	I>V		No	ClinGen ExAC TOPMed gnomAD
rs745758508 CA1426256	1230	T>A		No	ClinGen ExAC TOPMed gnomAD
rs781011415 CA1426255	1230	T>I		No	ClinGen ExAC TOPMed gnomAD
rs745758508 CA345056222	1230	T>P		No	ClinGen ExAC TOPMed gnomAD
rs757303064 CA1426254	1231	Q>R		No	ClinGen ExAC gnomAD
CA1426252 rs778052584	1232	A>P		No	ClinGen ExAC gnomAD
CA1426253 rs778052584	1232	A>T		No	ClinGen ExAC gnomAD
CA38628438 rs964424005	1233	A>T		No	ClinGen TOPMed
rs369879351 CA345056201	1234	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426250 rs369879351	1234	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426249 rs765546923	1235	I>V		No	ClinGen ExAC TOPMed
rs1558326821 CA345056188	1236	I>T		No	ClinGen Ensembl
CA1426247 rs754315131	1236	I>V		No	ClinGen ExAC TOPMed gnomAD
rs776346913 CA1426219	1237	D>G		No	ClinGen ExAC TOPMed gnomAD
CA345055652 rs1176211042	1238	H>R		No	ClinGen gnomAD
CA345055585 rs1366359685	1242	A>V		No	ClinGen gnomAD
CA1426217 rs746881187	1243	L>V		No	ClinGen ExAC TOPMed gnomAD
COSM904822 CA345055540 rs1379223059 COSM904823 COSM904821	1246	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1405097010 CA345055491	1249	L>F		No	ClinGen TOPMed
CA1426213 rs768226177	1253	H>R		No	ClinGen ExAC TOPMed gnomAD
CA1426214 rs748233648	1253	H>Y		No	ClinGen ExAC gnomAD
rs1336166175 CA345055448	1255	T>A		No	ClinGen TOPMed
rs755254406 CA1426212	1256	K>E		No	ClinGen ExAC gnomAD
CA1426192 rs772066475	1260	I>N		No	ClinGen ExAC gnomAD
CA345055251 rs1352684774	1261	R>K		No	ClinGen gnomAD
CA345055247 rs1261231728	1261	R>S		No	ClinGen gnomAD
CA1426191 rs761871777	1263	G>R		No	ClinGen ExAC gnomAD
CA38626878 rs201692012	1265	N>S		No	ClinGen 1000Genomes gnomAD
rs1405122768 CA345055161	1268	I>F		No	ClinGen gnomAD
CA345055149 rs768838602	1269	H>N		No	ClinGen ExAC gnomAD
CA345055146 rs1295733102	1269	H>P		No	ClinGen gnomAD
CA1426189 rs768838602	1269	H>Y		No	ClinGen ExAC gnomAD
CA1426188 rs749426936	1270	Q>H		No	ClinGen ExAC gnomAD
CA345055109 rs1162931736	1271	I>M		No	ClinGen TOPMed
rs769991846 CA1426186	1274	I>L		No	ClinGen ExAC gnomAD
rs200594653 CA1426185	1276	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781762933 CA1426184	1277	D>Y		No	ClinGen ExAC gnomAD
CA345055004 rs1202085475	1280	V>I		No	ClinGen gnomAD
CA345054973 rs1480848887	1282	V>M		No	ClinGen gnomAD
CA38626835 rs267598395	1285	G>R		No	ClinGen Ensembl
rs1329763799 CA345054928	1286	R>Q		No	ClinGen TOPMed
CA345054918 rs1376721606	1287	N>S		No	ClinGen TOPMed
rs267598394 CA38626816	1288	R>C		No	ClinGen TOPMed
CA1426183 rs752231516	1288	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752231516 CA1426182	1288	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1572353612 CA345054903	1290	V>I		No	ClinGen Ensembl
CA345054896 rs1242121060	1291	R>*		No	ClinGen TOPMed
CA345054892 rs1283285265	1292	L>F		No	ClinGen TOPMed
CA345054885 rs1306998218	1293	F>L		No	ClinGen gnomAD
CA38626804 rs1020039170	1293	F>Y		No	ClinGen TOPMed
rs752420862 CA38626803	1294	P>L		No	ClinGen TOPMed
CA345054872 rs1262569931	1295	M>L		No	ClinGen gnomAD
rs778606955 CA1426181	1295	M>T		No	ClinGen ExAC gnomAD
rs754539454 CA1426180	1298	L>M		No	ClinGen ExAC gnomAD
CA38626777 rs762577720	1300	G>A		No	ClinGen Ensembl
rs760385271 COSM1339354 COSM1339352 CA1426177 COSM1339353	1301	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs750278536 CA1426176	1301	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA38626745 rs1040710245	1304	D>E		No	ClinGen TOPMed
CA1426173 rs368664811	1304	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426174 rs368664811	1304	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426172 rs768565672	1306	Y>H		No	ClinGen ExAC gnomAD
rs763104436 CA1426171	1307	K>Q		No	ClinGen ExAC gnomAD
CA345054782 rs375993481	1309	S>*		No	ClinGen ESP TOPMed gnomAD
CA38626744 rs375993481	1309	S>L		No	ClinGen ESP TOPMed gnomAD
rs974005038 CA38626739	1310	E>A		No	ClinGen TOPMed
CA38626727 rs962823621	1311	T>A		No	ClinGen TOPMed gnomAD
CA345054753 rs1572353021	1314	C>G		No	ClinGen Ensembl
rs1929860 CA1426168 VAR_045587	1317	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1929860 CA1426169	1317	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1929860 CA38626682	1317	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345054719 rs1572352930	1319	S>F		No	ClinGen Ensembl
rs1393742037 CA345054707	1321	K>N		No	ClinGen TOPMed
CA1426167 rs781723212	1321	K>R		No	ClinGen ExAC gnomAD
rs1004489718 CA38626666	1322	V>M		No	ClinGen gnomAD
COSM291536 COSM291537 COSM291538 CA1426165 rs371007688	1323	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200056759 CA1426164	1323	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA345054697 COSM904813 COSM904812 COSM904814 rs200056759	1323	R>L	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1426163 rs754380991	1324	H>P		No	ClinGen ExAC TOPMed
CA345054693 rs754380991	1324	H>R		No	ClinGen ExAC TOPMed
rs375342151 CA1426162	1326	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA38626640 rs996452921	1328	T>A		No	ClinGen Ensembl
CA1426159 rs750190679	1331	C>F		No	ClinGen ExAC gnomAD
rs1384439122 CA345054643	1332	V>A		No	ClinGen gnomAD
rs1242000974 CA345054645	1332	V>M		No	ClinGen gnomAD
CA38626626 COSM352886 rs899519192 COSM352888 COSM352887	1334	M>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA345054614 rs1454023870	1336	R>S		No	ClinGen gnomAD
CA1426158 rs201775243 COSM1738499 COSM1738502 COSM1738501	1337	Q>E	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs757062805 CA1426157	1338	V>I		No	ClinGen ExAC gnomAD
CA345054193 rs1387231047	1344	F>L		No	ClinGen gnomAD
rs775695070 CA1426153	1345	Q>E		No	ClinGen ExAC gnomAD
rs1439060894 CA345054177	1345	Q>R		No	ClinGen gnomAD
CA345054161 rs1236092430	1346	S>N		No	ClinGen gnomAD
CA1426152 rs765353057	1348	T>N		No	ClinGen ExAC TOPMed gnomAD
rs372645836 CA1426151	1349	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426149 rs200051797	1349	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs200051797 CA1426150	1349	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA1426148 rs747384342	1350	H>R		No	ClinGen ExAC gnomAD
CA345053944 rs1929861	1354	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345053940 rs1929861	1354	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1426146 rs149240330	1359	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426144 rs779657903	1360	Y>C		No	ClinGen ExAC gnomAD
rs1465991561 CA345053738	1361	N>T		No	ClinGen TOPMed
rs1444828772 CA345053722	1362	V>I		No	ClinGen gnomAD
CA38626550 rs868733423	1363	Q>*		No	ClinGen Ensembl
CA1426143 rs755656599	1365	M>I		No	ClinGen ExAC TOPMed gnomAD
CA345053651 rs1558319435	1365	M>V		No	ClinGen Ensembl
rs146203858 CA1426142	1367	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345053532 rs1416212631	1370	E>K		No	ClinGen TOPMed
CA1426140 rs756976859	1371	Q>R		No	ClinGen ExAC gnomAD
rs751420345 CA1426139	1372	L>F		No	ClinGen ExAC
rs948678266 CA38626529	1377	Q>P		No	ClinGen Ensembl
rs1296017129 CA345053308	1383	Y>H		No	ClinGen TOPMed
rs758408019 CA1426137	1384	P>L		No	ClinGen ExAC gnomAD
CA345053292 rs763923399	1384	P>S		No	ClinGen ExAC gnomAD
CA1426138 rs763923399	1384	P>T		No	ClinGen ExAC gnomAD
COSM1339349 COSM1339350 CA345053261 COSM1339351 rs1470389163	1386	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA345053240 rs1341892668	1387	G>E		No	ClinGen gnomAD
rs752687668 CA1426136	1387	G>R		No	ClinGen ExAC gnomAD
rs765320519 CA1426135	1389	G>R		No	ClinGen ExAC gnomAD
CA1426134 rs759701869	1390	N>S		No	ClinGen ExAC TOPMed gnomAD
CA345053137 rs1297469894	1392	Y>F		No	ClinGen TOPMed
CA1426133 rs200486377	1393	S>G		No	ClinGen ExAC gnomAD
rs766776305 CA1426132	1393	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1426131 rs761109166	1395	L>F		No	ClinGen ExAC gnomAD
rs773672897 CA1426130	1398	N>S		No	ClinGen ExAC gnomAD
CA345053017 rs1274683280	1400	H>Y		No	ClinGen gnomAD
CA1426129 rs772424167	1401	T>A		No	ClinGen ExAC TOPMed gnomAD
CA38626480 rs772424167	1401	T>S		No	ClinGen ExAC TOPMed gnomAD
CA1426127 rs770872855	1403	S>L		No	ClinGen ExAC TOPMed gnomAD
CA345052953 rs1488757441	1406	A>T		No	ClinGen TOPMed
CA345052938 rs1558318708	1407	H>R		No	ClinGen Ensembl
rs1572350982 CA345052905	1409	P>L		No	ClinGen Ensembl
CA345052857 rs1558318668	1413	I>T		No	ClinGen Ensembl
CA345052864 rs1188594937	1413	I>V		No	ClinGen TOPMed
rs183857756 CA1426125	1415	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345052816 rs1424151018	1416	V>A		No	ClinGen gnomAD
rs1481173254 CA345052797	1417	E>D		No	ClinGen TOPMed gnomAD
CA345052806 rs1395142078	1417	E>G		No	ClinGen TOPMed
rs1174027088 CA345052812	1417	E>K		No	ClinGen gnomAD
rs1422007020 CA345052793	1418	I>V		No	ClinGen gnomAD
CA38626454 rs776936556	1423	Y>H		No	ClinGen Ensembl
rs752631178 CA1426119	1428	N>D		No	ClinGen ExAC TOPMed gnomAD
COSM3804116 COSM3804112 rs1029341018 CA38626417 COSM3804114	1430	I>V	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1218531900 CA345052651	1432	I>L		No	ClinGen gnomAD
CA345052642 rs1361750290	1433	Y>C		No	ClinGen gnomAD
CA38626415 rs996572366	1437	Q>H		No	ClinGen TOPMed gnomAD
rs1020429696 CA38626413	1439	R>*		No	ClinGen TOPMed gnomAD
CA1426118 rs369641713	1439	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426117 rs755104034	1440	R>K		No	ClinGen ExAC gnomAD
rs1365307121 CA345052569	1444	Q>R		No	ClinGen TOPMed
CA1426116 rs147617327	1450	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM232000 rs1399674358 COSM231999 CA345052508	1452	P>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs142464333 CA38626379	1454	S>C		No	ClinGen ESP TOPMed gnomAD
CA1426089 rs371469034	1459	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472801008 CA345052089	1460	P>L		No	ClinGen TOPMed
CA345052076 rs763493218	1462	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1426088 rs763493218	1462	L>V		No	ClinGen ExAC TOPMed gnomAD
rs758916289 CA1426087	1463	S>L		No	ClinGen ExAC TOPMed gnomAD
rs772912323 CA1426084	1464	V>M		No	ClinGen ExAC TOPMed gnomAD
CA345052040 rs1479750056	1465	Y>C		No	ClinGen gnomAD
CA345052031 rs1372235982	1466	S>G		No	ClinGen TOPMed
VAR_045588 rs55687355 CA1426083	1469	A>V		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs747951331 CA1426082	1470	V>L		No	ClinGen ExAC TOPMed gnomAD
CA345051967 rs1358783653	1471	D>G		No	ClinGen gnomAD
CA1426081 rs778889428	1475	V>M		No	ClinGen ExAC gnomAD
rs112426338 CA38624384	1477	S>P		No	ClinGen Ensembl
rs768600809 CA1426080	1477	S>Y		No	ClinGen ExAC gnomAD
rs1341002984 CA345051870	1478	M>T		No	ClinGen TOPMed
CA345051772 rs1308173441	1485	P>L		No	ClinGen TOPMed gnomAD
rs756148552 CA345051760	1487	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1426077 rs756148552	1487	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1400085701 CA345051755	1487	K>R		No	ClinGen TOPMed gnomAD
rs376894146 CA38624325	1488	K>T		No	ClinGen Ensembl
CA1426062 rs774166063	1490	R>Q		No	ClinGen ExAC gnomAD
rs1452320881 CA345051490	1491	P>S		No	ClinGen gnomAD
rs768503352 CA1426061	1492	L>S		No	ClinGen ExAC gnomAD
CA345051449 rs146136586	1494	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426060 rs146136586	1494	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs775567448 CA1426059	1495	E>D		No	ClinGen ExAC gnomAD
CA38622588 rs930642822	1495	E>K		No	ClinGen TOPMed
rs1315611908 CA345051425	1496	G>R		No	ClinGen gnomAD
CA345051389 rs1267054578	1500	L>F		No	ClinGen gnomAD
CA1426058 rs769681926	1505	T>S		No	ClinGen ExAC gnomAD
CA38622567 rs971955919	1506	I>V		No	ClinGen TOPMed
rs1202276191 CA345051346	1507	R>G		No	ClinGen TOPMed
CA345051331 rs1261187724	1509	I>V		No	ClinGen gnomAD
rs56229267 CA38622561	1512	K>I		No	ClinGen ExAC gnomAD
CA1426056 rs781173180	1512	K>Q		No	ClinGen ExAC gnomAD
rs56229267 CA1426055	1512	K>R		No	ClinGen ExAC gnomAD
CA38622557 rs139110633	1513	N>S		No	ClinGen ESP gnomAD
rs1558305627 CA345051290	1514	K>N		No	ClinGen Ensembl
CA345051283 rs1321225526	1515	M>I		No	ClinGen gnomAD
rs555844878 CA345051093	1519	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1426042 rs762832639	1519	D>Y		No	ClinGen ExAC gnomAD
CA1426040 rs755208656	1520	E>K		No	ClinGen ExAC TOPMed gnomAD
CA345051077 rs1446510544	1522	V>L		No	ClinGen gnomAD
rs1398367457 CA345051069	1523	V>A		No	ClinGen gnomAD
CA345051067 rs1298949845	1524	P>S		No	ClinGen gnomAD
CA345051050 rs1364942049	1526	T>I		No	ClinGen TOPMed
rs1404302553 CA345051037	1528	D>G		No	ClinGen gnomAD
CA345051032 rs1283605677	1529	N>D		No	ClinGen TOPMed
CA1426037 rs571684122	1531	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776653752 CA345051016	1531	R>W		No	ClinGen ExAC TOPMed gnomAD
rs747096742 CA1426036	1537	N>S		No	ClinGen ExAC TOPMed gnomAD
CA345050954 rs1317390970	1539	N>K		No	ClinGen TOPMed
rs1572266574 CA345050952	1540	N>D		No	ClinGen Ensembl
CA1426034 rs772328155	1540	N>I		No	ClinGen ExAC TOPMed gnomAD
CA1426035 rs772328155	1540	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1488234667 CA345050937	1542	R>Q		No	ClinGen TOPMed
rs1045581683 CA38618014	1542	R>W		No	ClinGen TOPMed
CA1426032 rs779106707 COSM1339346 COSM1339348 COSM1339347	1543	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1426031 rs201852267	1543	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1426030 rs371006782	1544	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1204065277 CA345050919	1545	S>F		No	ClinGen gnomAD
rs368220176 CA38617963	1549	P>R		No	ClinGen Ensembl
rs555542592 CA38617949	1550	E>Q		No	ClinGen TOPMed gnomAD
CA345050867 rs1339448910	1553	R>K		No	ClinGen gnomAD
rs747126532 CA38617936	1554	M>L		No	ClinGen gnomAD
CA345050861 rs747126532	1554	M>V		No	ClinGen gnomAD
rs1245829453 CA345050852	1555	Q>*		No	ClinGen gnomAD
CA345061290 rs1243820785	1560	M>V		No	ClinGen TOPMed
CA38683709 rs1024197267	1562	R>*		No	ClinGen TOPMed
CA1426007 rs751086806	1562	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA345061248 rs1572261392	1563	D>G		No	ClinGen Ensembl
CA1426006 rs777380315	1566	M>K		No	ClinGen ExAC gnomAD
rs777380315 CA345061217	1566	M>T		No	ClinGen ExAC gnomAD
rs1367601535 CA345061206	1568	N>H		No	ClinGen gnomAD
rs752235838 CA1426004	1573	N>Y		No	ClinGen ExAC gnomAD
CA1426003 rs764948029	1576	N>D		No	ClinGen ExAC gnomAD
CA1426002 rs759247798	1578	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1426000 rs766273445	1580	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1425999 rs760563818	1581	A>T		No	ClinGen ExAC gnomAD
rs200918078 CA1425998	1583	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1425997 rs772078661	1585	P>S		No	ClinGen ExAC gnomAD
CA1425995 rs774428577	1587	D>G		No	ClinGen ExAC TOPMed gnomAD
CA1425994 rs375660195	1589	I>M		No	ClinGen ESP ExAC gnomAD
rs1225847674 CA345061059	1589	I>R		No	ClinGen gnomAD
rs923749633 CA38683564	1590	Q>E		No	ClinGen Ensembl
rs1221957811 CA345061043	1592	L>V		No	ClinGen gnomAD
CA1425991 rs770316257	1594	D>E		No	ClinGen ExAC gnomAD
CA1425992 rs775968651	1594	D>Y		No	ClinGen ExAC gnomAD
rs754496353 CA1425989	1596	P>L		No	ClinGen ExAC gnomAD
COSM679330 rs747760705 COSM679332 CA1425987 COSM679331	1597	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1425988 rs757915965	1597	M>L		No	ClinGen ExAC gnomAD
CA345061014 rs757915965	1597	M>V		No	ClinGen ExAC gnomAD
rs748038725 CA1425899	1599	P>A		No	ClinGen ExAC gnomAD
CA345060465 rs778999374	1599	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1425898 rs778999374	1599	P>R		No	ClinGen ExAC TOPMed gnomAD
CA1425896 rs749382100	1600	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs373302295 CA1425897	1600	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs780296620 CA1425895	1601	P>A		No	ClinGen ExAC gnomAD
rs756328956 CA345060446	1602	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA1425894 rs756328956	1602	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA38673693 rs758497392	1604	S>G		No	ClinGen TOPMed gnomAD
CA1425892 rs767823654	1605	R>Q		No	ClinGen ExAC gnomAD
CA1425893 rs750686607	1605	R>W		No	ClinGen ExAC TOPMed gnomAD
CA345060410 rs1187754381	1606	T>A		No	ClinGen TOPMed gnomAD
CA345060403 rs1436896648	1606	T>I		No	ClinGen gnomAD
rs1342339025 CA345060379	1609	S>G		No	ClinGen gnomAD
rs764656269 CA1425889	1610	G>D		No	ClinGen ExAC gnomAD
CA345060350 rs1245951546	1612	V>G		No	ClinGen gnomAD
CA345060345 rs1354624549	1613	S>R		No	ClinGen gnomAD
CA1425888 rs759034833	1614	I>V		No	ClinGen ExAC TOPMed gnomAD
rs776055049 CA1425887	1615	P>A		No	ClinGen ExAC gnomAD
CA1425885 rs199675358	1617	I>V		No	ClinGen ExAC TOPMed gnomAD
rs2297417 VAR_045589 CA1425884	1618	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1425883 rs771924794	1618	T>S		No	ClinGen ExAC TOPMed gnomAD
COSM1185756 COSM1185755 CA1425882 COSM1185757 rs148881297	1621	R>C	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs768760090 CA1425880	1621	R>H		No	ClinGen ExAC TOPMed gnomAD
rs768760090 CA38673641	1621	R>L		No	ClinGen ExAC TOPMed gnomAD
rs768760090 CA1425881	1621	R>P		No	ClinGen ExAC TOPMed gnomAD
rs376558824 CA1425879	1622	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1425878 rs779954841	1624	P>S		No	ClinGen ExAC gnomAD
rs756238413 CA1425877	1626	R>C		No	ClinGen ExAC gnomAD
rs576159915 CA38673630	1626	R>H		No	ClinGen 1000Genomes gnomAD
rs1183948492 CA345060217	1627	S>C		No	ClinGen TOPMed gnomAD
rs1483084012 CA345060195	1629	S>N		No	ClinGen gnomAD
CA1425875 rs781400182	1634	L>F		No	ClinGen ExAC gnomAD
rs771388079 CA38664016	1639	S>CAH*		No	ClinGen Ensembl
COSM1339339 COSM1339338 rs904725867 CA38664008 COSM1339340	1640	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA345059702 rs1191214849	1640	A>V		No	ClinGen TOPMed
CA345059680 rs1388842884	1642	N>H		No	ClinGen gnomAD
rs755545219 CA1425831	1643	G>S		No	ClinGen ExAC gnomAD
CA1425830 rs749841288	1644	S>C		No	ClinGen ExAC gnomAD
rs756838979 CA345059627	1645	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1339335 COSM1339336 rs756838979 CA1425828 COSM1339337	1645	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751193044 CA1425827	1645	A>V		No	ClinGen ExAC TOPMed gnomAD
CA38663993 rs866181712	1647	K>R		No	ClinGen gnomAD
rs763877436 CA1425826	1649	E>K		No	ClinGen ExAC gnomAD
rs758118650 CA1425825	1652	G>E		No	ClinGen ExAC gnomAD
CA1425823 rs765054481	1653	G>A		No	ClinGen ExAC gnomAD
CA1425824 rs752590269	1653	G>R		No	ClinGen ExAC TOPMed gnomAD
rs759429493 CA1425822	1655	Y>C		No	ClinGen ExAC gnomAD
rs1437090782 CA345059500	1655	Y>H		No	ClinGen TOPMed
CA1425821 rs776573133	1658	K>R		No	ClinGen ExAC
CA1425819 rs369962125	1659	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1425820 COSM425474 rs532891873 COSM425476 COSM425475	1659	R>W	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1297311841 CA345059427	1660	Q>P		No	ClinGen gnomAD
rs1407453228 CA345059418	1661	P>S		No	ClinGen gnomAD
CA1425818 rs145538584	1662	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345059397 rs1310336496	1663	P>S		No	ClinGen gnomAD
rs1368185442 CA345059376	1665	P>L		No	ClinGen gnomAD
CA1425817 rs772385104	1665	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1231774326 CA345059371	1666	S>P		No	ClinGen TOPMed
rs1289814252 CA345059352	1667	E>D		No	ClinGen TOPMed
CA345059334 rs1322917970	1669	S>Y		No	ClinGen TOPMed
CA38663953 rs200692909	1670	L>S		No	ClinGen Ensembl
rs749751520 COSM1200364 CA1425813 COSM1200362 COSM1200363	1673	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1044332221 CA38663946	1675	M>V		No	ClinGen TOPMed
CA1425812 rs780708396	1676	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1179957709 CA345059284	1677	Q>*		No	ClinGen TOPMed
CA1425811 rs756824948	1678	G>E		No	ClinGen ExAC TOPMed gnomAD
CA345059277 rs1205737521	1678	G>R		No	ClinGen TOPMed gnomAD
CA1425810 rs746579028	1679	S>G		No	ClinGen ExAC gnomAD
rs931142776 CA38663929	1679	S>N		No	ClinGen gnomAD
rs777272887 CA1425809	1680	D>E		No	ClinGen ExAC gnomAD
CA345059257 rs1287292827	1681	A>D		No	ClinGen TOPMed gnomAD
rs752323864 CA1425807	1683	A>V		No	ClinGen ExAC TOPMed gnomAD
rs753710619 CA38663913	1685	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1425804 rs753710619	1685	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1158646294 CA345059212	1688	G>E		No	ClinGen gnomAD
COSM425473 COSM425471 CA1425802 rs143404397 COSM425472	1688	G>R	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA345059180 rs1349252735	1691	S>P		No	ClinGen gnomAD
rs540511213 CA1425778	1694	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751799596 CA1425779	1694	P>S		No	ClinGen ExAC gnomAD
CA345059157 rs1400071060	1695	R>G		No	ClinGen gnomAD
rs1174400426 CA345059131	1698	T>I		No	ClinGen gnomAD
rs2802269 VAR_045590 CA345059042	1699	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1389473065 CA345059123	1700	S>P		No	ClinGen gnomAD
rs1334757132 CA345059097	1703	S>F		No	ClinGen TOPMed
rs1384975003 CA345059092	1704	N>S		No	ClinGen TOPMed
CA345059084 rs1297016559	1705	L>R		No	ClinGen TOPMed
rs1226082607 CA345059087	1705	L>V		No	ClinGen TOPMed
rs1036557918 CA38663448	1706	S>T		No	ClinGen TOPMed gnomAD
CA1425775 rs770318162	1708	P>S		No	ClinGen ExAC gnomAD
CA1425774 rs373832771	1709	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777019251 CA345059062	1709	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs777019251 CA1425773	1709	P>R		No	ClinGen ExAC TOPMed gnomAD
rs373832771 CA345059063	1709	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373832771 CA38663430	1709	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1274517446 CA345059055	1710	S>I		No	ClinGen TOPMed gnomAD
CA345059051 rs1226909425	1711	P>A		No	ClinGen gnomAD
rs2802269 CA1425772 VAR_057104	1712	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1425771 rs545978830	1713	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA38663419 rs778513565	1714	P>S		No	ClinGen ExAC
CA1425770 rs778513565	1714	P>T		No	ClinGen ExAC
rs748969764 CA1425767	1715	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1425765 rs145018031	1715	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1425766 rs145018031	1715	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1415443204 CA345059023	1716	K>N		No	ClinGen TOPMed gnomAD
rs1370083095 CA345059021	1717	T>A		No	ClinGen TOPMed gnomAD
CA345059020 rs1370083095	1717	T>S		No	ClinGen TOPMed gnomAD
CA1425764 rs146538430	1719	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1425763 rs376204917	1719	S>R		No	ClinGen ESP ExAC gnomAD
CA1425762 rs757348849	1720	L>F		No	ClinGen ExAC gnomAD
rs917515448 CA38663397	1720	L>R		No	ClinGen TOPMed gnomAD
rs764383159 CA1425760	1722	L>P		No	ClinGen ExAC gnomAD
CA345058989 rs764383159	1722	L>Q		No	ClinGen ExAC gnomAD
CA345058991 rs751642687	1722	L>V		No	ClinGen ExAC gnomAD
CA345058984 rs1407991147	1723	E>K		No	ClinGen TOPMed
rs1407991147 CA345058985	1723	E>Q		No	ClinGen TOPMed
CA345058973 rs1471967854	1724	S>G		No	ClinGen gnomAD
CA345058969 rs1249015062	1724	S>N		No	ClinGen gnomAD
rs1484328843 CA345058955	1725	T>I		No	ClinGen TOPMed gnomAD
COSM1339330 COSM1339331 CA345058956 COSM1339329 rs1484328843	1725	T>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1425759 rs373581147	1727	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373581147 CA1425758	1727	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs369792934 CA1425757	1727	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1425756 rs555455666	1728	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1425755 rs142402392	1729	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs946389435 CA38663366	1732	P>A		No	ClinGen TOPMed gnomAD
CA345058885 rs1286539810	1732	P>L		No	ClinGen TOPMed gnomAD
CA345058883 rs1286539810	1732	P>Q		No	ClinGen TOPMed gnomAD
CA345058882 rs1286539810	1732	P>R		No	ClinGen TOPMed gnomAD

No associated diseases with Q5VT25

12 regional properties for Q5VT25

Type	Name	Position	InterPro Accession
domain	CRIB domain	1571 - 1606	IPR000095
domain	Protein kinase domain	77 - 343	IPR000719
domain	AGC-kinase, C-terminal	344 - 414	IPR000961
domain	Citron homology (CNH) domain	1227 - 1510	IPR001180
domain	Pleckstrin homology domain	1082 - 1203	IPR001849
domain	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	1012 - 1063	IPR002219
active_site	Serine/threonine-protein kinase, active site	197 - 209	IPR008271
domain	Myotonic dystrophy protein kinase, coiled coil	881 - 941	IPR014930
binding_site	Protein kinase, ATP binding site	83 - 106	IPR017441
domain	Protein kinase, C-terminal	362 - 404	IPR017892
domain	Serine/threonine-protein kinase MRCK alpha, catalytic domain	4 - 412	IPR026611
domain	KELK-motif containing domain	529 - 608	IPR031597

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Cell projection, lamellipodium	Displays a dispersed punctate distribution and concentrates along the cell periphery, especially at the leading edge and cell-cell junction This concentration is PH-domain dependent Localizes in the lamellipodium in a FAM89B/LRAP25-dependent manner
PANTHER Family	PTHR22988	MYOTONIC DYSTROPHY S/T KINASE-RELATED
PANTHER Subfamily	PTHR22988:SF31	SERINE_THREONINE-PROTEIN KINASE MRCK ALPHA
PANTHER Protein Class	non-receptor serine/threonine protein kinase protein modifying enzyme
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
actomyosin	Any complex of actin, myosin, and accessory proteins.
cell leading edge	The area of a motile cell closest to the direction of movement.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
identical protein binding	Binding to an identical protein or proteins.
magnesium ion binding	Binding to a magnesium (Mg) ion.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
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.

6 GO annotations of biological process

Name	Definition
actin cytoskeleton reorganization	A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins.
actomyosin structure organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments.
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.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
peptidyl-threonine phosphorylation	The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
protein phosphorylation	The process of introducing a phosphate group on to a protein.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q28021	ROCK2	Rho-associated protein kinase 2	Bos taurus (Bovine)	SS
Q9W1B0	gek	Serine/threonine-protein kinase Genghis Khan	Drosophila melanogaster (Fruit fly)	SS
Q9Y5S2	CDC42BPB	Serine/threonine-protein kinase MRCK beta	Homo sapiens (Human)	SS
Q13464	ROCK1	Rho-associated protein kinase 1	Homo sapiens (Human)	SS
O75116	ROCK2	Rho-associated protein kinase 2	Homo sapiens (Human)	SS
P70336	Rock2	Rho-associated protein kinase 2	Mus musculus (Mouse)	SS
P70335	Rock1	Rho-associated protein kinase 1	Mus musculus (Mouse)	SS
Q7TT50	Cdc42bpb	Serine/threonine-protein kinase MRCK beta	Mus musculus (Mouse)	SS
Q80UW5	Cdc42bpg	Serine/threonine-protein kinase MRCK gamma	Mus musculus (Mouse)	PR
Q3UU96	Cdc42bpa	Serine/threonine-protein kinase MRCK alpha	Mus musculus (Mouse)	SS
M3TYT0	ROCK2	Rho-associated protein kinase 2	Sus scrofa (Pig)	SS
Q62868	Rock2	Rho-associated protein kinase 2	Rattus norvegicus (Rat)	EV
Q63644	Rock1	Rho-associated protein kinase 1	Rattus norvegicus (Rat)	SS
Q7TT49	Cdc42bpb	Serine/threonine-protein kinase MRCK beta	Rattus norvegicus (Rat)	SS
O54874	Cdc42bpa	Serine/threonine-protein kinase MRCK alpha	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MSGEVRLRQL	EQFILDGPAQ	TNGQCFSVET	LLDILICLYD	ECNNSPLRRE	KNILEYLEWA
70	80	90	100	110	120
KPFTSKVKQM	RLHREDFEIL	KVIGRGAFGE	VAVVKLKNAD	KVFAMKILNK	WEMLKRAETA
130	140	150	160	170	180
CFREERDVLV	NGDNKWITTL	HYAFQDDNNL	YLVMDYYVGG	DLLTLLSKFE	DRLPEDMARF
190	200	210	220	230	240
YLAEMVIAID	SVHQLHYVHR	DIKPDNILMD	MNGHIRLADF	GSCLKLMEDG	TVQSSVAVGT
250	260	270	280	290	300
PDYISPEILQ	AMEDGKGRYG	PECDWWSLGV	CMYEMLYGET	PFYAESLVET	YGKIMNHKER
310	320	330	340	350	360
FQFPAQVTDV	SENAKDLIRR	LICSREHRLG	QNGIEDFKKH	PFFSGIDWDN	IRNCEAPYIP
370	380	390	400	410	420
EVSSPTDTSN	FDVDDDCLKN	SETMPPPTHT	AFSGHHLPFV	GFTYTSSCVL	SDRSCLRVTA
430	440	450	460	470	480
GPTSLDLDVN	VQRTLDNNLA	TEAYERRIKR	LEQEKLELSR	KLQESTQTVQ	ALQYSTVDGP
490	500	510	520	530	540
LTASKDLEIK	NLKEEIEKLR	KQVTESSHLE	QQLEEANAVR	QELDDAFRQI	KAYEKQIKTL
550	560	570	580	590	600
QQEREDLNKE	LVQASERLKN	QSKELKDAHC	QRKLAMQEFM	EINERLTELH	TQKQKLARHV
610	620	630	640	650	660
RDKEEEVDLV	MQKVESLRQE	LRRTERAKKE	LEVHTEALAA	EASKDRKLRE	QSEHYSKQLE
670	680	690	700	710	720
NELEGLKQKQ	ISYSPGVCSI	EHQQEITKLK	TDLEKKSIFY	EEELSKREGI	HANEIKNLKK
730	740	750	760	770	780
ELHDSEGQQL	ALNKEIMILK	DKLEKTRRES	QSEREEFESE	FKQQYEREKV	LLTEENKKLT
790	800	810	820	830	840
SELDKLTTLY	ENLSIHNQQL	EEEVKDLADK	KESVAHWEAQ	ITEIIQWVSD	EKDARGYLQA
850	860	870	880	890	900
LASKMTEELE	ALRNSSLGTR	ATDMPWKMRR	FAKLDMSARL	ELQSALDAEI	RAKQAIQEEL
910	920	930	940	950	960
NKVKASNIIT	ECKLKDSEKK	NLELLSEIEQ	LIKDTEELRS	EKGIEHQDSQ	HSFLAFLNTP
970	980	990	1000	1010	1020
TDALDQFERS	PSCTPASKGR	RTVDSTPLSV	HTPTLRKKGC	PGSTGFPPKR	KTHQFFVKSF
1030	1040	1050	1060	1070	1080
TTPTKCHQCT	SLMVGLIRQG	CSCEVCGFSC	HITCVNKAPT	TCPVPPEQTK	GPLGIDPQKG
1090	1100	1110	1120	1130	1140
IGTAYEGHVR	IPKPAGVKKG	WQRALAIVCD	FKLFLYDIAE	GKASQPSVVI	SQVIDMRDEE
1150	1160	1170	1180	1190	1200
FSVSSVLASD	VIHASRKDIP	CIFRVTASQL	SASNNKCSIL	MLADTENEKN	KWVGVLSELH
1210	1220	1230	1240	1250	1260
KILKKNKFRD	RSVYVPKEAY	DSTLPLIKTT	QAAAIIDHER	IALGNEEGLF	VVHVTKDEII
1270	1280	1290	1300	1310	1320
RVGDNKKIHQ	IELIPNDQLV	AVISGRNRHV	RLFPMSALDG	RETDFYKLSE	TKGCQTVTSG
1330	1340	1350	1360	1370	1380
KVRHGALTCL	CVAMKRQVLC	YELFQSKTRH	RKFKEIQVPY	NVQWMAIFSE	QLCVGFQSGF
1390	1400	1410	1420	1430	1440
LRYPLNGEGN	PYSMLHSNDH	TLSFIAHQPM	DAICAVEISS	KEYLLCFNSI	GIYTDCQGRR
1450	1460	1470	1480	1490	1500
SRQQELMWPA	NPSSCCYNAP	YLSVYSENAV	DIFDVNSMEW	IQTLPLKKVR	PLNNEGSLNL
1510	1520	1530	1540	1550	1560
LGLETIRLIY	FKNKMAEGDE	LVVPETSDNS	RKQMVRNINN	KRRYSFRVPE	EERMQQRREM
1570	1580	1590	1600	1610	1620
LRDPEMRNKL	ISNPTNFNHI	AHMGPGDGIQ	ILKDLPMNPR	PQESRTVFSG	SVSIPSITKS
1630	1640	1650	1660	1670	1680
RPEPGRSMSA	SSGLSARSSA	QNGSALKREF	SGGSYSAKRQ	PMPSPSEGSL	SSGGMDQGSD
1690	1700	1710	1720	1730
APARDFDGED	SDSPRHSTAS	NSSNLSSPPS	PASPRKTKSL	SLESTDRGSW	DP