AiPD: Autoinhibited Protein Database

Q9H422

Gene name	HIPK3 (DYRK6, FIST3, PKY)
Protein name	Homeodomain-interacting protein kinase 3
Names	Androgen receptor-interacting nuclear protein kinase, ANPK, Fas-interacting serine/threonine-protein kinase, FIST, Homolog of protein kinase YAK1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10114
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

HIPK2 is a serine/threonine-protein kinase involved in transcription regulation, p53/TP53-mediated cellular apoptosis and regulation of the cell cycle.?In a study with human HIPK2, the truncated form lacking the autoinhibitory C-terminal region resulted in a hyperactive kinase, which potentiates p53/TP53 Ser-46 phosphorylation and subsequent activation of the cell death machinery. HIPK2 also contains a similar C-terminal sequence that may act as an autoinhibitory region.

Autoinhibitory domains (AIDs)

993-1215 (Autoinhibitory domain) SS

Target domain	197-525 (Protein kinase domain)
Relief mechanism	Partner binding
Assay

AID

993-1215 (Autoinhibitory domain)

Target domain

197-525 (Protein kinase domain)

Relief mechanism

Partner binding (Axin binding to the autoinhibitory domain)

Assay

Accessory elements

343-364 (Activation loop from InterPro)

Target domain	197-525 (Protein kinase domain)
Relief mechanism
Assay

References

Calzado MA et al. (2007) "HIPK2: a versatile switchboard regulating the transcription machinery and cell death", Cell cycle (Georgetown, Tex.), 6, 139-43

Autoinhibited structure

Activated structure

3 structures for Q9H422

Entry ID	Method	Resolution	Chain	Position	Source
7O7I	X-ray	250 A	A	159-562	PDB
7O7J	X-ray	281 A	A	159-562	PDB
AF-Q9H422-F1	Predicted				AlphaFoldDB

828 variants for Q9H422

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs144688161 CA5938337	2	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs776191579 CA5938339	3	S>L		No	ClinGen ExAC TOPMed gnomAD
CA380109940 rs1590358542	4	Q>K		No	ClinGen Ensembl
CA380109960 rs1369328106	6	L>F		No	ClinGen gnomAD
rs1369328106 CA380109959	6	L>F		No	ClinGen gnomAD
rs1457573913 CA380109965	7	V>A		No	ClinGen gnomAD
CA380109971 rs1565063739	8	Y>C		No	ClinGen Ensembl
CA380109991 rs1246633726	11	Y>C		No	ClinGen TOPMed
rs533099783 CA380109995	12	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533099783 CA5938341	12	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380110004 rs1590358608	13	Y>F		No	ClinGen Ensembl
rs1334434368 CA380110001	13	Y>H		No	ClinGen TOPMed
CA5938344 rs762680653	15	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5938343 rs762680653	15	T>S		No	ClinGen ExAC TOPMed gnomAD
rs751426383 CA5938345	17	S>T		No	ClinGen ExAC TOPMed gnomAD
rs372642188 CA5938346	21	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386571669 CA380110063	22	S>G		No	ClinGen TOPMed
rs781044216 CA5938347	22	S>N		No	ClinGen ExAC
rs779058885 CA5938349	29	E>G		No	ClinGen ExAC TOPMed gnomAD
CA380110111 rs1342655501	29	E>K		No	ClinGen TOPMed gnomAD
CA380110124 rs1481845070	31	S>G		No	ClinGen TOPMed
CA380110133 rs1263630329	32	S>G		No	ClinGen gnomAD
rs1289079128 CA380110135	32	S>N		No	ClinGen gnomAD
rs779230839 CA5938350	33	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1204114213 CA380110177	38	R>G		No	ClinGen TOPMed
COSM185877 rs746108673 CA5938351	38	R>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5938352 rs772499872 COSM98909	38	R>S	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1590358737 CA380110186	39	N>S		No	ClinGen Ensembl
rs200300898 CA5938354	40	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371285073 CA5938355	41	P>A		No	ClinGen ESP ExAC gnomAD
rs1002932768 CA220385134	42	R>Q		No	ClinGen TOPMed gnomAD
CA5938356 rs148530680	42	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA380110209 rs1312887666	43	T>I		No	ClinGen TOPMed
rs145481182 CA5938359	44	Y>C		No	ClinGen ESP ExAC gnomAD
CA5938358 rs769199253	44	Y>N		No	ClinGen ExAC
CA380110217 rs1359243753	45	V>M		No	ClinGen gnomAD
rs1468003735 CA380110234	47	G>D		No	ClinGen gnomAD
rs751330303 CA5938362	48	R>I		No	ClinGen ExAC TOPMed gnomAD
rs1373813596 CA380110241	48	R>S		No	ClinGen TOPMed
rs1394888564 CA380110247	49	N>S		No	ClinGen gnomAD
CA380110258 rs759285677	50	F>L		No	ClinGen ExAC TOPMed gnomAD
CA380110279 rs1378651004	54	H>Y		No	ClinGen gnomAD
rs1390361482 CA380110289	55	P>S		No	ClinGen gnomAD
CA380110293 rs1240676783	56	P>T		No	ClinGen TOPMed gnomAD
CA380110300 rs1308228037	57	T>A		No	ClinGen gnomAD
rs1367121509 CA380110306	58	K>E		No	ClinGen TOPMed
CA5938365 rs147614894	60	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5938366 rs757307052	60	S>N		No	ClinGen ExAC gnomAD
rs779140704 CA5938367	61	A>G		No	ClinGen ExAC gnomAD
rs750599692 CA380110349	64	T>I		No	ClinGen ExAC gnomAD
CA5938368 rs750599692	64	T>K		No	ClinGen ExAC gnomAD
rs1018035334 CA220385135	66	I>T		No	ClinGen TOPMed
CA5938371 rs144644881	67	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs529358219 CA5938370	67	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA220385136 rs755320304	72	R>*		No	ClinGen ExAC gnomAD
COSM1353590 CA220385137 rs563248984	72	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs781681280 CA5938373	76	F>I		No	ClinGen ExAC gnomAD
CA220385138 rs781681280	76	F>L		No	ClinGen ExAC gnomAD
CA220385139 rs868117977	76	F>S		No	ClinGen Ensembl
CA5938375 rs144410310	77	S>*		No	ClinGen ESP ExAC TOPMed
CA380110428 rs748606217	77	S>A		No	ClinGen ExAC TOPMed gnomAD
CA5938374 rs748606217	77	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1334107803 CA380110444	79	Q>R		No	ClinGen gnomAD
rs748842821 CA5938377	80	T>I		No	ClinGen ExAC gnomAD
rs151214053 CA5938378	81	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA380110471 rs1554963036	84	V>I		No	ClinGen Ensembl
rs140400527 CA5938380	86	K>E		No	ClinGen ESP ExAC gnomAD
CA380110486 rs1301895735	86	K>T		No	ClinGen gnomAD
rs1221822677 CA380110495	87	N>S		No	ClinGen gnomAD
CA380110510 rs1263555477	89	A>V		No	ClinGen TOPMed
CA5938381 rs759330269	91	A>T		No	ClinGen ExAC gnomAD
rs1217878808 CA380110523	92	T>A		No	ClinGen TOPMed
rs760526637 CA5938384	95	I>T		No	ClinGen ExAC
rs998471618 CA220385140	98	Q>R		No	ClinGen TOPMed gnomAD
rs1231340368 CA380110572	99	A>V		No	ClinGen gnomAD
rs150292649 CA220385141	103	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA380110603 rs1292227589	104	V>A		No	ClinGen TOPMed
CA380110602 rs750509696	104	V>L		No	ClinGen ExAC TOPMed gnomAD
rs750509696 CA5938387	104	V>L		No	ClinGen ExAC TOPMed gnomAD
rs750509696 CA5938386	104	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5938388 rs766659837	109	I>T		No	ClinGen ExAC TOPMed gnomAD
CA380110636 rs1590359180	109	I>V		No	ClinGen Ensembl
rs144907072 CA5938389	110	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5938390 rs755301195	111	A>S		No	ClinGen ExAC gnomAD
rs375017758 CA5938391	111	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA220385143 rs770590582	113	R>*		No	ClinGen TOPMed gnomAD
CA5938392 rs187022690	113	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5938395 rs756588954	116	L>V		No	ClinGen ExAC gnomAD
CA220385144 rs868664854	121	G>C		No	ClinGen Ensembl
CA380110712 rs868664854	121	G>R		No	ClinGen Ensembl
rs748752873 CA5938400	121	G>V		No	ClinGen ExAC
rs551845395 CA5938403	122	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380110724 rs1265193027	123	Q>R		No	ClinGen gnomAD
rs368850984 CA5938404	124	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1241493166 CA380110735	125	C>Y		No	ClinGen TOPMed
CA5938405 rs775136731	128	K>N		No	ClinGen ExAC
CA380110762 rs1325458719	129	R>C		No	ClinGen TOPMed
CA380110775 rs1590359333	131	S>G		No	ClinGen Ensembl
CA220385146 rs746901635	131	S>N		No	ClinGen gnomAD
rs140900571 CA220385147	131	S>R		No	ClinGen ESP
rs764092630 CA5938408	132	E>G		No	ClinGen ExAC gnomAD
CA5938409 rs776731441	135	D>E		No	ClinGen ExAC gnomAD
CA5938410 rs763068533	137	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1245494388 CA380110831	138	S>R		No	ClinGen gnomAD
rs1422458794 CA380110835	139	S>N		No	ClinGen gnomAD
rs556300403 CA380110840	140	A>P		No	ClinGen ExAC TOPMed gnomAD
rs556300403 CA5938411	140	A>S		No	ClinGen ExAC TOPMed gnomAD
rs556300403 COSM1209687 CA220385148	140	A>T	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5938412 rs751726102	141	M>V		No	ClinGen ExAC gnomAD
CA5938415 rs767826647	142	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA5938414 rs767826647	142	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs34193811 VAR_040549 CA5938413	142	Q>R		No	ClinGen UniProt ExAC dbSNP gnomAD
CA220385149 rs776099317	143	I>F		No	ClinGen Ensembl
rs571959388 CA5938419	145	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5938418 rs754359744	145	D>N		No	ClinGen ExAC gnomAD
CA380110878 rs1463186033	146	E>A		No	ClinGen TOPMed gnomAD
CA380110888 rs1433287469	147	L>F		No	ClinGen TOPMed
CA5938421 rs745443752	148	S>C		No	ClinGen ExAC gnomAD
CA5938420 rs778285089	148	S>P		No	ClinGen ExAC TOPMed gnomAD
CA5938422 rs771603026	149	I>V		No	ClinGen ExAC gnomAD
CA5938423 rs779796961	151	P>A		No	ClinGen ExAC gnomAD
rs1239894661 CA380110909	151	P>H		No	ClinGen gnomAD
rs779796961 CA380110906	151	P>T		No	ClinGen ExAC gnomAD
CA380110911 rs1182101380	152	A>T		No	ClinGen gnomAD
CA5938425 rs768584563	153	M>V		No	ClinGen ExAC TOPMed gnomAD
CA380110957 rs1179751239	158	M>T		No	ClinGen TOPMed gnomAD
CA5938427 rs761836642	158	M>V		No	ClinGen ExAC gnomAD
rs1172591799 CA380110977	161	P>A		No	ClinGen TOPMed
CA380110993 rs1565064482	163	T>I		No	ClinGen Ensembl
rs1418651174 CA380111013	167	A>P		No	ClinGen TOPMed
CA5938429 VAR_040550 rs34698015	170	G>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA220385151 rs374084636	170	G>R		No	ClinGen Ensembl
CA380111032 rs34698015	170	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1283819120 CA380111068	175	C>S		No	ClinGen gnomAD
rs759698272 CA5938430	176	T>I		No	ClinGen ExAC gnomAD
CA380111082 rs1242841070	177	T>I		No	ClinGen gnomAD
CA5938431 rs369151270	181	D>E		No	ClinGen ESP ExAC gnomAD
rs752935813 CA5938432	182	Y>C		No	ClinGen ExAC gnomAD
rs1222586133 CA380111121	183	Q>R		No	ClinGen TOPMed gnomAD
CA5938434 rs764450120	185	V>G		No	ClinGen ExAC gnomAD
rs148715569 CA5938433	185	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5938436 rs757751554	186	Q>P		No	ClinGen ExAC gnomAD
rs749871355 CA5938438	187	H>R		No	ClinGen ExAC TOPMed gnomAD
rs757957571 CA5938439	188	E>V		No	ClinGen ExAC gnomAD
CA220385152 rs201202256	190	L>F		No	ClinGen gnomAD
rs1297440629 CA380111166	190	L>S		No	ClinGen TOPMed
VAR_040551 CA5938440 rs35689361	191	C>R		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA220385153 rs952298477	191	C>Y		No	ClinGen TOPMed gnomAD
CA380111182 rs1415173939	193	M>V		No	ClinGen gnomAD
rs1590359691 CA380111207	196	T>A		No	ClinGen Ensembl
CA220385154 rs887056868	199	V>I		No	ClinGen TOPMed
rs1332241715 CA380111233	200	L>I		No	ClinGen gnomAD
CA5938444 rs141595291	200	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA380111242 rs1354021958	201	D>G		No	ClinGen TOPMed
rs1462514078 COSM3809111 CA380111238	201	D>N	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1237251616 CA380111268	205	R>Q		No	ClinGen gnomAD
rs376339186 CA5938445	207	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA380111310 rs369914142	212	V>I		No	ClinGen ESP ExAC gnomAD
CA5938448 rs369914142	212	V>L		No	ClinGen ESP ExAC gnomAD
CA380111328 rs1182721278	214	C>F		No	ClinGen TOPMed
CA5938450 rs760884860	220	N>S		No	ClinGen ExAC TOPMed gnomAD
CA380111385 rs1565064733	222	I>T		No	ClinGen Ensembl
rs764361772 CA5938451	222	I>V		No	ClinGen ExAC
rs1224146309 CA380111388	223	V>L		No	ClinGen TOPMed
CA380111409 rs1179385041	226	K>*		No	ClinGen gnomAD
rs1478302605 CA380111414	226	K>N		No	ClinGen gnomAD
rs1248443606 CA380111412	226	K>R		No	ClinGen gnomAD
CA220385155 rs535328561	228	L>F		No	ClinGen Ensembl
CA380111429 rs1362190483	229	K>Q		No	ClinGen TOPMed
rs750962772 CA5938455	232	P>S		No	ClinGen ExAC
CA5938456 rs757779297	233	S>P		No	ClinGen ExAC gnomAD
CA5938457 rs758924721	234	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs867823585 CA220385156	235	A>V		No	ClinGen Ensembl
CA5938458 rs765907964	236	R>C		No	ClinGen ExAC TOPMed gnomAD
rs751170625 CA5938459	236	R>H		No	ClinGen ExAC TOPMed gnomAD
CA220385157 rs976152004	238	G>D		No	ClinGen Ensembl
rs922016811 CA220385158	242	V>A		No	ClinGen Ensembl
CA5938461 rs781029181	242	V>M		No	ClinGen ExAC gnomAD
CA220385159 rs931991377	244	I>M		No	ClinGen Ensembl
rs1325922509 CA380111529	244	I>V		No	ClinGen gnomAD
CA220385160 rs546084528	245	L>F		No	ClinGen Ensembl
CA380111545 rs1332221400	246	A>V		No	ClinGen gnomAD
rs150819399 CA5938462	247	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA380111553 rs1326922324	248	L>V		No	ClinGen TOPMed gnomAD
rs1366073140 CA380111560	249	S>C		No	ClinGen TOPMed
rs1343108509 CA380111566	250	T>A		No	ClinGen gnomAD
rs573350879 CA220385162	250	T>I		No	ClinGen Ensembl
rs969951797 CA220385163	255	E>D		No	ClinGen TOPMed
CA5938464 rs777509665	256	Y>S		No	ClinGen ExAC
rs1565064896 CA380111638	260	R>*		No	ClinGen Ensembl
CA220385164 rs928188226	262	Y>H		No	ClinGen TOPMed
rs376939727 CA5938469	268	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5938470 rs139279668	268	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376939727 CA5938468	268	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA380111699 rs1590360004	269	N>D		No	ClinGen Ensembl
rs200282854 CA5938471	271	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1293072258 CA380111773	279	E>A		No	ClinGen TOPMed
CA380111806 rs1590360037	283	Y>C		No	ClinGen Ensembl
rs765638038 CA5938472	284	D>E		No	ClinGen ExAC TOPMed gnomAD
CA380111813 rs1209778240	284	D>G		No	ClinGen TOPMed
rs1165183553 CA380111833	287	K>R		No	ClinGen gnomAD
CA380111838 rs767041104	288	Q>*		No	ClinGen ExAC gnomAD
CA5938475 rs767041104	288	Q>K		No	ClinGen ExAC gnomAD
CA5938476 rs751080432	289	N>K		No	ClinGen ExAC gnomAD
rs754563697 CA5938478	290	K>N		No	ClinGen ExAC
CA5938477 rs754563697	290	K>N		No	ClinGen ExAC
CA220385168 rs915203740	291	F>C		No	ClinGen TOPMed
rs752404266 CA5938483	291	F>L		No	ClinGen ExAC TOPMed
rs752404266 CA5938481	291	F>L		No	ClinGen ExAC TOPMed
CA5938484 rs755802668	292	S>G		No	ClinGen ExAC gnomAD
CA5938487 rs749098026	292	S>I		No	ClinGen ExAC gnomAD
rs755802668 CA5938485	292	S>R		No	ClinGen ExAC gnomAD
CA5938486 rs749098026	292	S>T		No	ClinGen ExAC gnomAD
CA380111868 rs1406796293	293	P>T		No	ClinGen TOPMed
rs747053879 CA5938493	299	I>M		No	ClinGen ExAC gnomAD
CA220385169 rs907021448	299	I>V		No	ClinGen Ensembl
rs1285539449 CA380111909	300	R>Q		No	ClinGen gnomAD
rs1224824771 CA380111908	300	R>W		No	ClinGen TOPMed gnomAD
rs1565065057 CA380111913	301	P>A		No	ClinGen Ensembl
rs768746295 CA5938494	302	I>V		No	ClinGen ExAC gnomAD
CA5938496 rs368956023	307	A>T		No	ClinGen ESP ExAC gnomAD
rs769967245 CA5938497	308	T>S		No	ClinGen ExAC
CA380111992 rs1261170328	313	L>W		No	ClinGen gnomAD
rs1385003086 CA380112000	314	K>R		No	ClinGen TOPMed
CA220385170 rs938522132	315	S>T		No	ClinGen TOPMed gnomAD
rs1444477216 CA380112015	316	L>P		No	ClinGen gnomAD
rs766949315 CA5938501	317	G>D		No	ClinGen ExAC gnomAD
rs763265128 CA5938500	317	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1456544483 CA380112055	322	D>E		No	ClinGen TOPMed
CA5938502 rs775018730	327	N>S		No	ClinGen ExAC gnomAD
CA220385171 rs565513802	331	V>A		No	ClinGen gnomAD
rs1409260847 CA380112117	331	V>L		No	ClinGen TOPMed
rs867903963 CA220385172	333	P>L		No	ClinGen Ensembl
CA380112138 rs1565065139	334	V>G		No	ClinGen Ensembl
rs142299107 CA5938504	335	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143910249 CA220385173	335	R>Q		No	ClinGen ESP TOPMed gnomAD
rs142299107 CA5938503	335	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5938505 rs752219629	338	Y>C		No	ClinGen ExAC gnomAD
CA380112183 rs1260241710	342	V>I		No	ClinGen gnomAD
rs1312610793 CA380112193	343	I>T		No	ClinGen gnomAD
rs762944755 CA5938506	345	F>PRRPPAMWIEAQE*		No	ClinGen ExAC
rs760366152 CA5938507	347	S>L		No	ClinGen ExAC gnomAD
rs557342659 CA5938509	349	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs995166517 CA380112240	350	H>P		No	ClinGen TOPMed gnomAD
rs995166517 CA220385174	350	H>R		No	ClinGen TOPMed gnomAD
CA5938510 rs147258823	351	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1382585994 CA380112277	356	C>Y		No	ClinGen gnomAD
rs199856578 CA5938513	358	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199856578 CA5938514	358	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1225588865 CA380112307	361	Q>*		No	ClinGen TOPMed
CA5938518 rs749613606	364	Y>C		No	ClinGen ExAC gnomAD
rs140836901 CA5938519	365	Y>C		No	ClinGen ESP ExAC
rs772677781 CA5938539	370	I>M		No	ClinGen ExAC gnomAD
CA379998917 rs1268721283	372	L>F		No	ClinGen gnomAD
CA5938542 rs768066929	375	P>T		No	ClinGen ExAC TOPMed
rs776281439 CA5938543	377	C>S		No	ClinGen ExAC gnomAD
CA5938544 rs761440300	380	I>M		No	ClinGen ExAC gnomAD
CA379999057 rs1590175966	380	I>T		No	ClinGen Ensembl
rs1565088016 CA379999101	382	M>I		No	ClinGen Ensembl
rs1565088011 CA379999098	382	M>T		No	ClinGen Ensembl
rs1410148544 CA379999090	382	M>V		No	ClinGen gnomAD
CA379999118 rs1227991113	384	S>L		No	ClinGen TOPMed
CA5938546 rs772957704	389	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1554966966 CA379999154	390	A>S		No	ClinGen Ensembl
rs1303691040 CA379999207	397	P>L		No	ClinGen TOPMed gnomAD
CA379999210 rs1403236324	398	L>F		No	ClinGen gnomAD
CA5938547 rs762766609	402	A>T		No	ClinGen ExAC gnomAD
rs1362703540 CA379999238	402	A>V		No	ClinGen gnomAD
rs1350286545 CA379999258	405	Y>C		No	ClinGen TOPMed
CA219557971 rs929167719	406	D>H		No	ClinGen Ensembl
rs1160233732 CA380000924	409	R>Q		No	ClinGen gnomAD
rs776637893 CA219565188	410	Y>N		No	ClinGen Ensembl
rs1400257332 CA380000957	411	I>F		No	ClinGen gnomAD
CA380000980 rs1156982608	412	S>C		No	ClinGen TOPMed gnomAD
CA380000983 rs1156982608	412	S>F		No	ClinGen TOPMed gnomAD
rs766088113 CA5938567	415	Q>H		No	ClinGen ExAC gnomAD
rs1163350285 COSM1254191 CA380001010	416	G>S	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA5938568 rs774266359	417	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5938572 rs757447364	423	L>I		No	ClinGen ExAC gnomAD
rs765511533 CA5938573	424	N>S		No	ClinGen ExAC TOPMed gnomAD
rs932903353 CA219565205	429	S>C		No	ClinGen TOPMed gnomAD
rs144565971 CA5938574	429	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5938577 rs768155159	435	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1183711572 CA380001144	436	E>K		No	ClinGen gnomAD
CA5938578 rs370787117	438	D>A		No	ClinGen ESP ExAC gnomAD
CA5938579 rs755406392	439	M>I		No	ClinGen ExAC gnomAD
rs1220002288 CA380001169	439	M>T		No	ClinGen TOPMed
CA380001166 rs1267867739	439	M>V		No	ClinGen TOPMed
rs781686638 CA5938580	441	H>L		No	ClinGen ExAC gnomAD
rs148475804 CA5938581	443	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5938582 rs769304237	445	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1328805288 CA380001877	452	H>Q		No	ClinGen TOPMed gnomAD
CA219565655 rs959219326	452	H>R		No	ClinGen TOPMed
rs1229178320 CA380001891	454	A>V		No	ClinGen gnomAD
CA380001903 rs1270352772	456	T>R		No	ClinGen gnomAD
rs777249846 CA5938605	458	M>L		No	ClinGen ExAC gnomAD
rs1293932827 CA380001925	459	K>R		No	ClinGen gnomAD
CA380001929 rs1490486679	460	S>P		No	ClinGen gnomAD
CA5938606 rs748875250	465	K>R		No	ClinGen ExAC gnomAD
CA5938607 rs564378173	466	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA5938608 rs533124606	467	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380002003 rs961022626	470	S>I		No	ClinGen gnomAD
CA219565667 rs961022626	470	S>N		No	ClinGen gnomAD
CA380002007 rs1165841647	471	L>V		No	ClinGen TOPMed gnomAD
CA380002026 rs1565093611	473	D>E		No	ClinGen Ensembl
rs266472 CA5938609 RCV000967196 VAR_051627	474	V>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1181142175 CA380002034	475	A>T		No	ClinGen TOPMed
CA5938610 rs559716959	475	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1045996807 CA219565853	477	V>M		No	ClinGen TOPMed
CA5938637 rs771047290	478	N>D		No	ClinGen ExAC gnomAD
rs775798510 CA5938641	481	M>R		No	ClinGen ExAC gnomAD
CA5938640 rs373644583	481	M>V		No	ClinGen ESP ExAC gnomAD
CA5938642 rs368066220	484	E>G		No	ClinGen ESP ExAC gnomAD
CA380002107 rs368066220	484	E>V		No	ClinGen ESP ExAC gnomAD
CA380002113 rs1442419735	485	G>E		No	ClinGen gnomAD
CA380002117 rs1481725126	486	S>G		No	ClinGen TOPMed
CA5938643 rs764461793	487	D>E		No	ClinGen ExAC gnomAD
CA5938644 rs540576523 COSM1580995	489	L>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs756659597 CA5938645	490	A>D		No	ClinGen ExAC gnomAD
rs1260254287 CA380002145	490	A>S		No	ClinGen gnomAD
rs1263913780 CA598862924	493	A>N		No	ClinGen gnomAD
CA380002164 rs1461196543	493	A>T		No	ClinGen TOPMed gnomAD
rs1253342639 CA380002180	495	R>K		No	ClinGen gnomAD
COSM1685154 CA219565870 rs914238918	497	E>D	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5938647 rs749959602	498	F>L		No	ClinGen ExAC TOPMed gnomAD
CA380002208 rs1362722760	499	V>F		No	ClinGen gnomAD
CA5938648 VAR_040552 rs11032229	500	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA380002212 rs1455126058	500	S>R		No	ClinGen gnomAD
rs1228135195 CA380002281	503	K>M		No	ClinGen gnomAD
rs201753105 CA5938650	504	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5938651 rs754831592	505	M>I		No	ClinGen ExAC TOPMed gnomAD
rs748108573 CA5938653	508	I>M		No	ClinGen ExAC gnomAD
rs769673994 CA5938654	509	D>G		No	ClinGen ExAC gnomAD
rs201133345 CA5938656	510	A>E		No	ClinGen ExAC TOPMed gnomAD
rs201133345 CA380002411	510	A>G		No	ClinGen ExAC TOPMed gnomAD
rs200260579 CA5938655	510	A>T		No	ClinGen ExAC TOPMed gnomAD
rs772244370 CA5938657	515	T>A		No	ClinGen ExAC gnomAD
rs1208514193 CA380002530	518	E>D		No	ClinGen gnomAD
rs371957082 CA5938658	519	T>I		No	ClinGen ESP ExAC gnomAD
rs760975918 CA5938659	522	H>Y		No	ClinGen ExAC gnomAD
CA5938660 rs188152932	526	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA219565889 rs998774722	527	M>T		No	ClinGen TOPMed gnomAD
CA380002689 rs1227153391	528	K>E		No	ClinGen TOPMed gnomAD
CA5938661 rs776927541	531	L>P		No	ClinGen ExAC
rs1163360677 CA380002819	535	H>Y		No	ClinGen TOPMed
CA219565892 rs1033447016 COSM333801	536	S>N	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5938663 rs765714177	538	H>Y		No	ClinGen ExAC gnomAD
rs745902071 CA5938679	545	I>V		No	ClinGen ExAC gnomAD
rs762874390 CA5938681	546	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5938680 rs772156247	546	M>V		No	ClinGen ExAC TOPMed gnomAD
CA380003701 rs1237865982	547	D>G		No	ClinGen TOPMed
rs747231767 CA5938682	549	C>F		No	ClinGen ExAC gnomAD
CA5938683 rs768818936	552	H>R		No	ClinGen ExAC TOPMed gnomAD
CA380003764 rs1303637315	556	C>R		No	ClinGen gnomAD
rs1434396720 CA380003810	559	N>T		No	ClinGen gnomAD
rs762126378 CA5938685	560	N>S		No	ClinGen ExAC gnomAD
CA5938687 rs773867918	562	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5938688 rs762484561	566	L>F		No	ClinGen ExAC TOPMed gnomAD
rs762484561 CA380003902	566	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5938690 rs751168585	569	P>R		No	ClinGen ExAC gnomAD
rs1198793134 CA380003942	569	P>S		No	ClinGen Ensembl
CA380003957 rs1590187150	570	V>A		No	ClinGen Ensembl
rs1320658174 CA380003953	570	V>F		No	ClinGen gnomAD
rs1243534627 CA380003995	573	S>I		No	ClinGen gnomAD
rs1187497046 CA380004007	574	S>N		No	ClinGen TOPMed gnomAD
CA5938692 rs561360873	577	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA380004050 rs1403726764	578	L>M		No	ClinGen gnomAD
rs1161342020 CA380004068	578	L>P		No	ClinGen gnomAD
rs755886595 CA5938694	579	T>I		No	ClinGen ExAC TOPMed gnomAD
CA380004084 rs1353850118	580	A>T		No	ClinGen TOPMed
CA380004127 rs1309915263	583	T>A		No	ClinGen TOPMed
CA380004174 rs1354029023	586	G>E		No	ClinGen TOPMed
rs140757794 CA5938696	586	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757256891 CA5938697	591	Q>E		No	ClinGen ExAC gnomAD
rs771522009 CA5938726	592	A>V		No	ClinGen ExAC gnomAD
rs745327494 CA5938728	593	L>F		No	ClinGen ExAC gnomAD
CA219566369 rs946369297	595	T>A		No	ClinGen TOPMed gnomAD
CA5938730 rs775136389	598	H>L		No	ClinGen ExAC gnomAD
rs775136389 CA380004265	598	H>R		No	ClinGen ExAC gnomAD
CA219566374 rs1039779647	598	H>Y		No	ClinGen TOPMed gnomAD
CA380004269 rs1371667448	599	S>T		No	ClinGen TOPMed
rs944240011 CA219566377	601	V>L		No	ClinGen TOPMed
rs760235974 CA5938731	604	G>E		No	ClinGen ExAC gnomAD
rs1411939445 CA380004324	607	L>R		No	ClinGen gnomAD
CA5938733 rs776380614	608	Q>*		No	ClinGen ExAC gnomAD
CA5938735 rs765113008	610	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1233534813 CA380004345	611	T>P		No	ClinGen gnomAD
CA5938736 rs750330846	613	Q>*		No	ClinGen ExAC gnomAD
rs758426329 CA5938737	614	F>C		No	ClinGen ExAC gnomAD
CA380004373 rs1251357608	615	G>A		No	ClinGen TOPMed
CA219566387 rs997963382	617	G>S		No	ClinGen TOPMed gnomAD
CA380004399 rs767481473	619	A>G		No	ClinGen ExAC gnomAD
CA5938738 rs767481473	619	A>V		No	ClinGen ExAC gnomAD
rs1479647948 CA380004426	623	T>A		No	ClinGen TOPMed
rs867563289 CA219566394	628	P>L		No	ClinGen Ensembl
CA219566392 rs868173525	628	P>S		No	ClinGen Ensembl
rs756369080 CA5938740	629	P>S		No	ClinGen ExAC gnomAD
CA380004477 rs1376126629	631	I>V		No	ClinGen TOPMed gnomAD
CA380004482 rs1476621427	632	Q>K		No	ClinGen gnomAD
CA5938741 rs563990421	632	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA219567656 rs971552660	633	G>A		No	ClinGen TOPMed
CA380004577 rs1391233180	634	I>S		No	ClinGen TOPMed
rs1481046366 CA380004575	634	I>V		No	ClinGen Ensembl
CA380004585 rs1317146785	635	P>L		No	ClinGen gnomAD
rs754119933 CA5938760	638	H>R		No	ClinGen ExAC TOPMed gnomAD
CA380004630 rs1263780667	642	T>I		No	ClinGen gnomAD
CA5938762 rs779133811	643	S>N		No	ClinGen ExAC TOPMed gnomAD
CA380004634 rs779133811	643	S>T		No	ClinGen ExAC TOPMed gnomAD
rs750849954 CA5938763	644	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA5938765 rs140297828	646	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs112993351 CA380004658	647	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA380004664 rs1423780162	648	V>I		No	ClinGen TOPMed gnomAD
CA5938768 rs113037552	650	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA219567678 rs956286797	653	P>A		No	ClinGen TOPMed gnomAD
rs1262729292 CA380004700	653	P>L		No	ClinGen gnomAD
CA380004697 rs956286797	653	P>T		No	ClinGen TOPMed gnomAD
CA5938770 rs747783399	654	L>F		No	ClinGen ExAC TOPMed gnomAD
CA380004721 rs1338242956	657	Q>*		No	ClinGen TOPMed
CA219567686 rs77834200	658	A>P		No	ClinGen gnomAD
CA380004727 rs77834200 COSM926480	658	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1343056186 CA380004731	658	A>V		No	ClinGen gnomAD
CA380004740 rs1590192593	660	A>P		No	ClinGen Ensembl
CA380004747 rs762837344	661	V>A		No	ClinGen ExAC gnomAD
CA5938773 rs762837344	661	V>E		No	ClinGen ExAC gnomAD
CA380004748 rs762837344	661	V>G		No	ClinGen ExAC gnomAD
rs1200089612 CA380004744	661	V>M		No	ClinGen TOPMed gnomAD
CA5938775 rs774358050	663	P>L		No	ClinGen ExAC gnomAD
CA380004764 rs1288012214	664	L>Q		No	ClinGen gnomAD
CA219567695 rs1032133671	667	R>*		No	ClinGen Ensembl
rs760768955 CA5938776	667	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1475382 rs374207916 CA219567698	673	Q>E	breast [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA5938794 rs367997325	674	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA219567753 rs1037325584	676	S>C		No	ClinGen TOPMed
CA380004859 rs1481746937	678	R>G		No	ClinGen gnomAD
rs372518927 CA5938795	678	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5938796 rs762020370	680	Q>*		No	ClinGen ExAC gnomAD
rs765332302 CA5938797	682	M>K		No	ClinGen ExAC TOPMed gnomAD
rs1039658135 CA219567758	683	L>Q		No	ClinGen TOPMed
rs773499448 CA5938798	684	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5938799 rs763163296	686	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1046108448 CA380004917	687	W>*		No	ClinGen TOPMed
CA219567763 rs1046108448	687	W>S		No	ClinGen TOPMed
rs199603859 CA219567765	689	Q>L		No	ClinGen TOPMed
rs1368798701 CA380004948	691	T>I		No	ClinGen gnomAD
rs1000667643 CA219567770	692	P>L		No	ClinGen TOPMed
rs181305871 CA5938800	692	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181305871 CA5938801	692	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1294400582 CA380004959	694	A>S		No	ClinGen gnomAD
CA219567774 rs752999522	696	A>T		No	ClinGen Ensembl
CA380004984 rs1298216838	698	T>S		No	ClinGen gnomAD
rs1565098236 CA380004989	699	T>K		No	ClinGen Ensembl
rs752153289 CA5938804	705	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1223095591 CA380005060	710	R>M		No	ClinGen gnomAD
rs748963286 CA5938807	711	L>F		No	ClinGen ExAC TOPMed gnomAD
CA380005065 rs1156854548	711	L>H		No	ClinGen TOPMed
rs756919528 CA5938808	712	G>*		No	ClinGen ExAC
rs1189054254 CA380005075	713	D>A		No	ClinGen gnomAD
rs1009342386 CA219567785	713	D>N		No	ClinGen Ensembl
CA380005085 rs1249680989	714	W>L		No	ClinGen gnomAD
CA5938811 rs772096269	715	G>A		No	ClinGen ExAC gnomAD
CA5938810 rs745699207	715	G>R		No	ClinGen ExAC gnomAD
rs756903887 CA380005107	716	K>R		No	ClinGen ExAC gnomAD
CA5938827 rs756903887	716	K>T		No	ClinGen ExAC gnomAD
rs778739935 CA5938828	717	M>L		No	ClinGen ExAC gnomAD
CA380005115 rs1389623162	717	M>T		No	ClinGen gnomAD
rs745613512 CA5938829	719	S>T		No	ClinGen ExAC gnomAD
CA380005135 rs1318994219	720	C>F		No	ClinGen gnomAD
rs758285566 CA5938830	720	C>W		No	ClinGen ExAC gnomAD
rs1349824953 CA380005143	721	S>N		No	ClinGen TOPMed gnomAD
CA380005146 rs1449419617	722	N>H		No	ClinGen gnomAD
CA5938831 rs551081820	723	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1377901573 CA380005165	724	Y>C		No	ClinGen gnomAD
rs189153633 CA5938832	727	V>M		No	ClinGen 1000Genomes ExAC gnomAD
VAR_040553 CA5938833 rs55807239	729	P>L		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs138907505 CA380005212	731	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138907505 CA5938836	731	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5938835 rs749355350	731	P>S		No	ClinGen ExAC gnomAD
CA380005216 rs1443860407	732	L>F		No	ClinGen gnomAD
CA380005227 rs1236819012	734	T>A		No	ClinGen gnomAD
rs774569615 CA5938837	736	Q>R		No	ClinGen ExAC gnomAD
rs759828783 CA5938838	738	T>I		No	ClinGen ExAC gnomAD
CA219567840 rs547809	740	S>F		No	ClinGen Ensembl
CA380005277 rs772419674	742	P>A		No	ClinGen ExAC gnomAD
CA5938839 rs772419674	742	P>S		No	ClinGen ExAC gnomAD
rs775773329 CA5938840	743	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs775773329 CA380005287	743	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA5938841 rs761224457	744	P>A		No	ClinGen ExAC gnomAD
rs149006860 CA5938842	746	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA380005303 rs149006860	746	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs761251698 CA5938844	747	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750109042 CA5938846	749	I>T		No	ClinGen ExAC TOPMed
rs573470200 CA219567855	750	A>S		No	ClinGen 1000Genomes
CA219567857 rs536065171	750	A>V		No	ClinGen 1000Genomes
rs1350517355 CA380005334	751	H>Q		No	ClinGen gnomAD
CA380005331 rs1309353356	751	H>R		No	ClinGen gnomAD
CA380005329 rs1421473150	751	H>Y		No	ClinGen TOPMed
rs959014357 CA219567861	754	W>C		No	ClinGen Ensembl
rs77998863 CA5938847	756	Q>H		No	ClinGen ExAC gnomAD
rs779984421 CA5938848	760	T>S		No	ClinGen ExAC
CA219567866 rs954973458	760	T>S		No	ClinGen TOPMed
rs751347954 CA5938849	763	N>K		No	ClinGen ExAC gnomAD
rs1286063505 CA380005410	763	N>S		No	ClinGen gnomAD
rs754901481 CA5938850	766	C>G		No	ClinGen ExAC TOPMed gnomAD
rs754901481 CA380005430	766	C>R		No	ClinGen ExAC TOPMed gnomAD
CA5938852 rs143841994	767	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5938851 rs143841994	767	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5938854 rs555970913	768	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1483313426 CA380005450	769	R>*		No	ClinGen TOPMed
rs1203089603 CA380005473	770	G>V		No	ClinGen gnomAD
CA380005481 rs1452440974	771	I>M		No	ClinGen gnomAD
rs62622015 CA219567918	775	L>P		No	ClinGen Ensembl
rs1198366261 CA380005519	777	E>V		No	ClinGen gnomAD
rs765567561 CA219567922	778	W>S		No	ClinGen gnomAD
rs1390077943 CA380005549	781	G>E		No	ClinGen gnomAD
rs752573063 CA5938873	785	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1458659568 CA380005635	791	S>N		No	ClinGen gnomAD
rs1321017305 CA380005651	793	S>*		No	ClinGen gnomAD
rs1380472000 CA380005665	795	Q>R		No	ClinGen gnomAD
rs1590193746 CA380005670	796	N>Y		No	ClinGen Ensembl
CA380005685 rs1174599754	798	N>D		No	ClinGen Ensembl
rs143804053 CA5938892	798	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1341216664 CA380005698	800	P>A		No	ClinGen gnomAD
CA380005699 rs1341216664	800	P>S		No	ClinGen gnomAD
rs147249051 CA219568025	801	H>P		No	ClinGen ESP TOPMed
CA380005705 rs1172167926	801	H>Y		No	ClinGen TOPMed
rs1291707313 CA380005710	802	S>A		No	ClinGen gnomAD
CA380005715 rs1248907483	802	S>L		No	ClinGen TOPMed
CA5938894 rs373565743	803	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs536173008 CA219568030	804	F>L		No	ClinGen 1000Genomes
rs750454121 CA5938895	804	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1267903048 CA380005739	806	S>Y		No	ClinGen gnomAD
CA5938896 rs758421783	812	G>R		No	ClinGen ExAC gnomAD
rs1002379334 CA219568034	815	V>I		No	ClinGen Ensembl
rs1375730645 CA380005804	816	E>K		No	ClinGen Ensembl
CA5938899 rs755288665	817	E>K		No	ClinGen ExAC TOPMed gnomAD
rs781392443 CA5938900	820	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs748551613 CA5938901	821	I>M		No	ClinGen ExAC gnomAD
rs1451356482 CA380005850	822	E>D		No	ClinGen gnomAD
CA5938902 rs770373389	822	E>V		No	ClinGen ExAC gnomAD
rs773864245 CA5938903	824	Q>R		No	ClinGen ExAC gnomAD
rs150770633 CA5938905	827	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs969330215 CA219568047	828	N>I		No	ClinGen TOPMed
CA219568048 rs781158617	829	S>T		No	ClinGen gnomAD
rs759086859 CA5938908	836	C>F		No	ClinGen ExAC gnomAD
CA5938909 rs370501263	837	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA380005955 rs1235861167	837	C>W		No	ClinGen gnomAD
rs1590193883 CA380005973	840	S>F		No	ClinGen Ensembl
rs760486342 CA5938911	841	I>V		No	ClinGen ExAC gnomAD
rs1004307154 CA219568058	842	R>T		No	ClinGen Ensembl
CA5938913 rs753780390	844	D>A		No	ClinGen ExAC TOPMed
rs569559432 CA5938912	844	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA5938914 rs187124851	845	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA219568062 rs956534187	849	V>I		No	ClinGen TOPMed gnomAD
CA380006027 rs956534187	849	V>L		No	ClinGen TOPMed gnomAD
rs766360128 CA5938915	852	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5938916 rs139168123	854	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA380006097 rs1465492668	859	I>T		No	ClinGen gnomAD
CA5938918 rs755128120	860	A>G		No	ClinGen ExAC TOPMed gnomAD
rs755128120 CA5938919	860	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5938922 rs756547034	861	D>H		No	ClinGen ExAC TOPMed gnomAD
rs756547034 CA5938921	861	D>N		No	ClinGen ExAC TOPMed gnomAD
rs749798625 CA5938923	862	S>C		No	ClinGen ExAC gnomAD
CA5938925 rs778254342	863	P>L		No	ClinGen ExAC TOPMed gnomAD
CA380006121 rs1255353727	864	S>G		No	ClinGen TOPMed
CA380006130 rs1330827402	865	P>A		No	ClinGen gnomAD
CA380006136 rs144093715	866	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs144093715 CA219568083	866	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs761268002 CA219568081	866	A>T		No	ClinGen Ensembl
rs144093715 CA5938927	866	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA380006141 rs1343752915	867	V>A		No	ClinGen gnomAD
rs1277393904 CA380006138	867	V>L		No	ClinGen gnomAD
rs760396235 CA5938929	870	I>V		No	ClinGen ExAC gnomAD
rs768439196 CA5938930	871	T>A		No	ClinGen ExAC gnomAD
CA380006167 rs1273447803	871	T>I		No	ClinGen TOPMed
CA380006169 rs1192510396	872	I>V		No	ClinGen TOPMed gnomAD
CA380006175 rs1453565987	873	S>G		No	ClinGen TOPMed gnomAD
CA380006177 rs1453565987	873	S>R		No	ClinGen TOPMed gnomAD
rs776471428 CA5938931	873	S>T		No	ClinGen ExAC gnomAD
rs1391922814 CA380006186	874	S>T		No	ClinGen gnomAD
CA5938933 rs765263227 COSM223451	876	T>I	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1294271446 CA380006246	882	S>F		No	ClinGen TOPMed gnomAD
rs1439144045 CA380006268	885	H>Q		No	ClinGen TOPMed gnomAD
rs1439144045 CA380006269	885	H>Q		No	ClinGen TOPMed gnomAD
rs1390550221 CA380006265	885	H>R		No	ClinGen gnomAD
CA5938936 rs759671739	886	S>T		No	ClinGen ExAC
CA5938937 rs767777066	888	R>G		No	ClinGen ExAC gnomAD
CA5938954 rs762862382	889	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5938938 rs373619155	889	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs767689041 CA5938955	890	C>Y		No	ClinGen ExAC gnomAD
CA380006311 rs1465130710	891	K>E		No	ClinGen gnomAD
CA380006321 rs1590194311	892	G>D		No	ClinGen Ensembl
rs1051950632 CA219568173	892	G>S		No	ClinGen TOPMed gnomAD
CA380006326 rs1425695155	893	S>G		No	ClinGen TOPMed
CA380006333 rs760946894	894	L>V		No	ClinGen ExAC gnomAD
rs1171789332 CA380006338	895	D>H		No	ClinGen TOPMed
CA380006353 rs1182492128	897	E>K		No	ClinGen gnomAD
CA219568178 rs966597955	899	C>R		No	ClinGen TOPMed gnomAD
rs764442186 CA5938958	900	Q>H		No	ClinGen ExAC gnomAD
rs754101213 CA5938959	902	T>A		No	ClinGen ExAC TOPMed gnomAD
rs754101213 CA5938960	902	T>P		No	ClinGen ExAC TOPMed gnomAD
CA380006392 rs1188604922	902	T>S		No	ClinGen TOPMed
CA5938962 rs773029433	907	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs751432115 CA5938961	907	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1314463866 CA380006430	908	M>T		No	ClinGen TOPMed
CA380006440 rs1361373786	909	C>F		No	ClinGen gnomAD
rs1234049218 CA380006453	911	L>S		No	ClinGen TOPMed
rs754776009 CA219568189	912	S>G		No	ClinGen Ensembl
CA5938964 rs779519463	914	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1565099455 CA380006481	915	D>G		No	ClinGen Ensembl
CA380006495 rs1229203685	917	T>I		No	ClinGen TOPMed
CA219568197 rs368393624	921	S>G		No	ClinGen ESP TOPMed
CA5938969 rs372352323	921	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs139983826 CA5938970	921	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA380006524 rs1313900872	922	S>P		No	ClinGen gnomAD
rs866503460 CA219568201	924	G>V		No	ClinGen Ensembl
rs747827163 CA5938971	928	P>L		No	ClinGen ExAC gnomAD
CA380006568 rs1484727241	929	S>P		No	ClinGen gnomAD
CA5938972 rs769624035	930	P>R		No	ClinGen ExAC gnomAD
rs990671535 CA219568205	932	K>Q		No	ClinGen TOPMed
CA380006593 rs1252784739	933	R>G		No	ClinGen gnomAD
rs143130710 CA5938973	933	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5938974 rs143130710	933	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5938975 rs527424646	934	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5938977 rs760859209	935	N>K		No	ClinGen ExAC gnomAD
rs1173489214 CA380006615	936	S>N		No	ClinGen gnomAD
CA5939004 rs140277514	937	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA219568728 rs371101353	939	D>V		No	ClinGen Ensembl
CA5939005 rs773590972	945	S>G		No	ClinGen ExAC TOPMed gnomAD
rs763334237 CA5939006	946	C>F		No	ClinGen ExAC gnomAD
CA380006878 rs1304975417	947	D>N		No	ClinGen TOPMed
rs766801531 CA5939007	948	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1293339789 CA380006915	950	D>H		No	ClinGen TOPMed
rs371278906 CA5939009	952	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA219568736 rs371278906	952	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA380006946 rs1295022486	953	P>A		No	ClinGen TOPMed gnomAD
rs760789845 CA5939010	953	P>L		No	ClinGen ExAC TOPMed gnomAD
CA219568742 rs927234802	954	T>A		No	ClinGen TOPMed
CA5939014 rs753628841	955	S>P		No	ClinGen ExAC gnomAD
CA5939015 rs757122827	956	D>H		No	ClinGen ExAC TOPMed gnomAD
rs142589533 CA5939016	957	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs771954226 CA5939018	958	S>C		No	ClinGen ExAC gnomAD
rs770013268 CA5939021	959	G>E		No	ClinGen ExAC gnomAD
rs748210021 CA5939020	959	G>R		No	ClinGen ExAC TOPMed gnomAD
rs369147055 CA5939024	960	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA380007051 rs1437196608	962	S>T		No	ClinGen gnomAD
rs760055119 CA5939026	963	P>L		No	ClinGen ExAC gnomAD
CA5939025 rs774743730	963	P>S		No	ClinGen ExAC gnomAD
rs945802372 CA219568770	965	A>P		No	ClinGen TOPMed gnomAD
CA219568772 rs1006317152	967	S>G		No	ClinGen Ensembl
CA219568777 rs1042576777	968	T>A		No	ClinGen TOPMed gnomAD
CA5939028 rs752201549	968	T>S		No	ClinGen ExAC
CA5939030 rs763735454	969	F>S		No	ClinGen ExAC gnomAD
CA380007147 rs1331653916	970	V>A		No	ClinGen gnomAD
CA380007154 rs1261609325	971	E>A		No	ClinGen TOPMed gnomAD
CA5939031 rs371973544	971	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5939032 rs757029110	972	D>G		No	ClinGen ExAC gnomAD
rs375435479 CA5939033	973	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs750285030 CA5939034	974	H>Q		No	ClinGen ExAC gnomAD
rs1238651227 CA380007193	974	H>R		No	ClinGen gnomAD
CA5939036 rs779882976	975	E>D		No	ClinGen ExAC gnomAD
CA5939035 rs758319403	975	E>K		No	ClinGen ExAC TOPMed gnomAD
rs200063110 CA219568784	977	T>A		No	ClinGen 1000Genomes
CA5939040 rs140531306	983	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs531724493 CA219568792	984	D>V		No	ClinGen Ensembl
rs774657507 CA5939042	985	T>K		No	ClinGen ExAC gnomAD
rs759837851 CA5939043	987	T>I		No	ClinGen ExAC gnomAD
CA380007379 rs201934152	990	A>D		No	ClinGen TOPMed gnomAD
CA219568797 rs201934152	990	A>G		No	ClinGen TOPMed gnomAD
rs574179092 CA5939044	991	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA380007404 rs1202639349	992	C>F		No	ClinGen TOPMed gnomAD
rs1202639349 CA380007400	992	C>Y		No	ClinGen TOPMed gnomAD
CA5939046 rs373543551	994	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs763683619 CA5939047	995	V>M		No	ClinGen ExAC gnomAD
CA5939048 rs368948226	998	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254934574 CA380007472	998	P>R		No	ClinGen gnomAD
rs765016544 CA5939050	1003	N>D		No	ClinGen ExAC
rs750197197 CA5939051	1007	A>T		No	ClinGen ExAC gnomAD
CA5939053 rs200039689 COSM1638822	1008	D>N	stomach [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200039689 CA5939054	1008	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1590196837 CA380007611	1009	E>G		No	ClinGen Ensembl
rs1174240007 CA380007603	1009	E>K		No	ClinGen TOPMed gnomAD
rs754988278 CA5939055	1010	H>R		No	ClinGen ExAC gnomAD
CA219568809 rs769743039	1011	M>T		No	ClinGen Ensembl
CA380007646 rs1434156008	1012	A>T		No	ClinGen TOPMed gnomAD
CA5939056 rs201982369	1013	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380007674 rs1343581504	1014	T>I		No	ClinGen TOPMed
CA5939074 rs754867300	1016	S>C		No	ClinGen ExAC gnomAD
CA5939076 rs150461240	1017	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs956026145 CA219568897	1017	I>M		No	ClinGen Ensembl
CA5939075 rs150461240	1017	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757332378 CA5939077	1018	C>F		No	ClinGen ExAC TOPMed gnomAD
CA380007779 rs1215364308	1019	Q>K		No	ClinGen TOPMed gnomAD
rs1253341842 CA380007792	1020	P>S		No	ClinGen gnomAD
rs1047110856 CA219568900	1021	L>F		No	ClinGen TOPMed gnomAD
CA380007829 rs1388140473	1023	K>E		No	ClinGen TOPMed
CA380007873 rs1160008772	1027	A>T		No	ClinGen TOPMed
rs888551433 CA219568903	1037	V>A		No	ClinGen TOPMed gnomAD
rs746065570 CA5939079	1038	G>D		No	ClinGen ExAC TOPMed gnomAD
CA380008008 rs746065570	1038	G>V		No	ClinGen ExAC TOPMed gnomAD
rs758696665 CA5939080	1040	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5939081 rs780252862	1040	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5939085 rs747599085	1050	Q>R		No	ClinGen ExAC gnomAD
CA5939087 rs772823226	1052	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5939088 rs567030889	1056	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1234682228 CA380008271	1057	Q>H		No	ClinGen gnomAD
CA5939116 rs148327404	1058	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374715839 CA5939114	1058	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5939115 rs374715839	1058	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5939117 rs775312482	1061	F>V		No	ClinGen ExAC gnomAD
CA380008385 rs1436015891	1065	H>P		No	ClinGen TOPMed gnomAD
rs1313154559 CA380008395	1066	Q>R		No	ClinGen gnomAD
CA380008407 rs868492143	1068	W>G		No	ClinGen Ensembl
rs764124053 CA5939119	1068	W>L		No	ClinGen ExAC gnomAD
CA219569158 rs868492143	1068	W>R		No	ClinGen Ensembl
CA5939120 rs750422947	1070	G>R		No	ClinGen ExAC TOPMed gnomAD
CA380008430 rs1159889717	1071	N>S		No	ClinGen TOPMed
CA5939121 rs763110427	1075	R>G		No	ClinGen ExAC gnomAD
CA380008457 rs1373706924	1075	R>K		No	ClinGen gnomAD
rs1223220073 CA380008466	1076	R>T		No	ClinGen gnomAD
rs1181546635 CA380008481	1078	Q>R		No	ClinGen TOPMed
rs755312894 CA5939124	1079	A>T		No	ClinGen ExAC gnomAD
CA380008502 rs1279635165	1081	I>T		No	ClinGen gnomAD
CA5939125 rs781659761	1083	T>A		No	ClinGen ExAC gnomAD
rs1206807252 CA380008515	1083	T>I		No	ClinGen TOPMed gnomAD
rs1206807252 CA380008513	1083	T>N		No	ClinGen TOPMed gnomAD
rs753140791 CA5939126	1084	S>N		No	ClinGen ExAC gnomAD
rs1469935377 CA380008522	1084	S>R		No	ClinGen gnomAD
CA219569175 rs572445631	1087	S>T		No	ClinGen TOPMed gnomAD
rs1289717522 CA380008555	1089	P>L		No	ClinGen TOPMed
CA5939128 rs200186370	1090	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778344464 CA5939131	1092	L>V		No	ClinGen ExAC TOPMed gnomAD
rs891878916 CA219569183	1093	S>Y		No	ClinGen TOPMed gnomAD
COSM1507980 rs141714879 CA219569184	1094	H>D	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed
CA5939132 rs745497440	1094	H>R		No	ClinGen ExAC TOPMed gnomAD
COSM110615 CA219569186 rs141714879	1094	H>Y	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed
rs775226114 CA5939134	1095	G>R		No	ClinGen ExAC gnomAD
rs1565101971 CA380008588	1095	G>V		No	ClinGen Ensembl
rs200223965 CA5939135	1098	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA219569196 rs199898293	1099	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5939137 rs776637460	1099	H>R		No	ClinGen ExAC gnomAD
CA5939136 rs199898293	1099	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA380008620 rs1302768846	1100	T>I		No	ClinGen gnomAD
CA380008621 rs1345808371	1101	A>T		No	ClinGen gnomAD
rs149374485 CA5939139	1104	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs761725983 CA5939138	1104	A>T		No	ClinGen ExAC gnomAD
rs774626464 CA5939140	1105	H>P		No	ClinGen ExAC gnomAD
rs1469317144 CA380008662	1107	A>V		No	ClinGen gnomAD
CA380008682 rs1565102032	1110	T>I		No	ClinGen Ensembl
CA380008687 rs1590198444	1111	H>P		No	ClinGen Ensembl
rs373637582 CA5939143	1112	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419823989 CA380008696	1113	G>R		No	ClinGen TOPMed gnomAD
CA380008705 rs1408956484	1114	G>E		No	ClinGen gnomAD
rs1168286996 CA380008712	1115	Q>R		No	ClinGen gnomAD
rs764431138 CA5939145	1117	T>A		No	ClinGen ExAC TOPMed gnomAD
CA380008726 rs1379770007	1117	T>I		No	ClinGen TOPMed
CA5939146 rs186297123	1118	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1490253554 CA380008739	1120	P>S		No	ClinGen TOPMed
rs950048163 CA219569219	1122	P>R		No	ClinGen Ensembl
CA5939149 rs745414263 COSM542475	1124	S>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA380008763 rs1218894609	1124	S>P		No	ClinGen TOPMed
CA5939150 rs757998887	1125	A>V		No	ClinGen ExAC gnomAD
rs368061213 CA5939151	1127	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs768481281 CA5939153	1128	S>G		No	ClinGen ExAC gnomAD
CA219569228 rs371485212	1129	S>G		No	ClinGen ESP
CA380008805 rs1565102132	1131	A>S		No	ClinGen Ensembl
CA5939155 rs748083916	1135	H>N		No	ClinGen ExAC gnomAD
rs1430402345 CA380008836	1136	L>Q		No	ClinGen TOPMed gnomAD
CA380008842 rs1449420418	1137	L>S		No	ClinGen gnomAD
CA219569234 rs1001433241	1140	P>L		No	ClinGen TOPMed gnomAD
rs774536478 CA5939158	1141	C>Y		No	ClinGen ExAC gnomAD
rs775843338 CA5939161	1146	M>I		No	ClinGen ExAC gnomAD
CA5939160 rs767793284	1146	M>V		No	ClinGen ExAC gnomAD
CA380008921 rs1164175602	1149	H>L		No	ClinGen gnomAD
rs148114408 CA5939162	1151	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1325864134 CA380008945	1153	N>D		No	ClinGen TOPMed gnomAD
rs1325864134 CA380008944	1153	N>H		No	ClinGen TOPMed gnomAD
rs1295338592 CA380008956	1154	I>N		No	ClinGen gnomAD
CA5939165 rs757732993	1154	I>V		No	ClinGen ExAC gnomAD
rs1363431969 CA380008962	1155	S>C		No	ClinGen Ensembl
CA380008973 rs779228109	1157	P>S		No	ClinGen gnomAD
CA219569252 rs779228109	1157	P>T		No	ClinGen gnomAD
rs1344145952 CA380008990	1159	G>V		No	ClinGen TOPMed
rs749867079 CA5939167	1160	I>T		No	ClinGen ExAC gnomAD
rs994408098 CA219569255	1160	I>V		No	ClinGen TOPMed gnomAD
rs757915190 CA5939169	1163	Q>R		No	ClinGen ExAC gnomAD
CA380009019 rs1445903692	1164	V>L		No	ClinGen gnomAD
CA380009035 rs1173539375	1167	G>S		No	ClinGen TOPMed
rs748722092 CA219569272	1170	P>H		No	ClinGen ExAC TOPMed gnomAD
rs748722092 CA5939174	1170	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1475307327 CA380009056	1170	P>T		No	ClinGen gnomAD
CA5939175 rs772295594	1171	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5939176 rs768803562	1171	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5939179 rs775753278	1175	S>P		No	ClinGen ExAC gnomAD
CA5939180 rs760929205 COSM87774	1177	T>A	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5939182 rs777014191	1178	I>V		No	ClinGen ExAC gnomAD
rs1279160192 CA380009125	1179	H>R		No	ClinGen TOPMed
rs201569128 CA5939183	1180	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380009192 rs1590198790	1184	K>N		No	ClinGen Ensembl
CA219569290 COSM926485 rs975026500	1184	K>R	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs146004527 CA5939186	1186	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1352388275 CA380009229	1187	F>L		No	ClinGen gnomAD
rs1590198807 CA380009226	1187	F>S		No	ClinGen Ensembl
rs1218909607 CA380009253	1189	P>L		No	ClinGen TOPMed
CA5939187 rs139964400	1190	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380009278 rs1485801986	1191	S>F		No	ClinGen gnomAD
CA380009292 rs141882893	1192	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5939188 rs751075958	1192	Y>S		No	ClinGen ExAC gnomAD
rs780717002 CA5939190	1193	I>T		No	ClinGen ExAC gnomAD
CA5939191 rs752481875	1194	A>S		No	ClinGen ExAC gnomAD
rs755963043 CA5939192	1194	A>V		No	ClinGen ExAC gnomAD
CA5939193 rs200574738	1196	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1175609972 CA380009345	1198	A>T		No	ClinGen gnomAD
CA380009374 rs771041815	1199	Y>*		No	ClinGen ExAC gnomAD
CA5939194 rs749208278	1199	Y>C		No	ClinGen ExAC gnomAD
CA5939197 rs373299730	1201	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5939198 rs768855318	1202	F>C		No	ClinGen ExAC gnomAD
CA380009432 rs1404424244	1203	P>L		No	ClinGen TOPMed
rs1413521757 CA380009428	1203	P>T		No	ClinGen gnomAD
CA380009468 rs1293179135	1206	P>A		No	ClinGen gnomAD
rs146182417 CA219569311	1207	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs76323203 CA219569313	1207	T>K		No	ClinGen Ensembl
CA5939199 rs146182417	1207	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419002925 CA380009491	1208	K>E		No	ClinGen TOPMed
rs1590198933 CA380009502	1208	K>N		No	ClinGen Ensembl
CA5939200 rs762078398	1209	L>P		No	ClinGen ExAC gnomAD
rs770136905 COSM3383432 CA5939201	1210	S>N	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5939202 rs773603948	1212	Y>C		No	ClinGen ExAC gnomAD
rs1232153381 CA380009612	1215	M>I		No	ClinGen gnomAD

No associated diseases with Q9H422

2 regional properties for Q9H422

Type	Name	Position	InterPro Accession
domain	High mobility group box domain	8 - 80	IPR009071-1
domain	High mobility group box domain	92 - 162	IPR009071-2

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
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.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
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.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.

7 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
mRNA transcription	The cellular synthesis of messenger RNA (mRNA) from a DNA template.
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 JUN kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of JUN kinase activity.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
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.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q13627	DYRK1A	Dual specificity tyrosine-phosphorylation-regulated kinase 1A	Homo sapiens (Human)	PR
Q8NE63	HIPK4	Homeodomain-interacting protein kinase 4	Homo sapiens (Human)	PR
Q9H2X6	HIPK2	Homeodomain-interacting protein kinase 2	Homo sapiens (Human)	EV
Q92630	DYRK2	Dual specificity tyrosine-phosphorylation-regulated kinase 2	Homo sapiens (Human)	PR
Q9NR20	DYRK4	Dual specificity tyrosine-phosphorylation-regulated kinase 4	Homo sapiens (Human)	PR
Q8BI55	Dyrk4	Dual specificity tyrosine-phosphorylation-regulated kinase 4	Mus musculus (Mouse)	PR
Q61214	Dyrk1a	Dual specificity tyrosine-phosphorylation-regulated kinase 1A	Mus musculus (Mouse)	PR
Q3V016	Hipk4	Homeodomain-interacting protein kinase 4	Mus musculus (Mouse)	PR
Q9QZR5	Hipk2	Homeodomain-interacting protein kinase 2	Mus musculus (Mouse)	SS
Q4V793	Hipk4	Homeodomain-interacting protein kinase 4	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MASQVLVYPP	YVYQTQSSAF	CSVKKLKVEP	SSCVFQERNY	PRTYVNGRNF	GNSHPPTKGS
70	80	90	100	110	120
AFQTKIPFNR	PRGHNFSLQT	SAVVLKNTAG	ATKVIAAQAQ	QAHVQAPQIG	AWRNRLHFLE
130	140	150	160	170	180
GPQRCGLKRK	SEELDNHSSA	MQIVDELSIL	PAMLQTNMGN	PVTVVTATTG	SKQNCTTGEG
190	200	210	220	230	240
DYQLVQHEVL	CSMKNTYEVL	DFLGRGTFGQ	VVKCWKRGTN	EIVAIKILKN	HPSYARQGQI
250	260	270	280	290	300
EVSILARLST	ENADEYNFVR	AYECFQHRNH	TCLVFEMLEQ	NLYDFLKQNK	FSPLPLKVIR
310	320	330	340	350	360
PILQQVATAL	KKLKSLGLIH	ADLKPENIML	VDPVRQPYRV	KVIDFGSASH	VSKTVCSTYL
370	380	390	400	410	420
QSRYYRAPEI	ILGLPFCEAI	DMWSLGCVIA	ELFLGWPLYP	GALEYDQIRY	ISQTQGLPGE
430	440	450	460	470	480
QLLNVGTKST	RFFCKETDMS	HSGWRLKTLE	EHEAETGMKS	KEARKYIFNS	LDDVAHVNTV
490	500	510	520	530	540
MDLEGSDLLA	EKADRREFVS	LLKKMLLIDA	DLRITPAETL	NHPFVNMKHL	LDFPHSNHVK
550	560	570	580	590	600
SCFHIMDICK	SHLNSCDTNN	HNKTSLLRPV	ASSSTATLTA	NFTKIGTLRS	QALTTSAHSV
610	620	630	640	650	660
VHHGIPLQAG	TAQFGCGDAF	QQTLIICPPA	IQGIPATHGK	PTSYSIRVDN	TVPLVTQAPA
670	680	690	700	710	720
VQPLQIRPGV	LSQTWSGRTQ	QMLVPAWQQV	TPLAPATTTL	TSESVAGSHR	LGDWGKMISC
730	740	750	760	770	780
SNHYNSVMPQ	PLLTNQITLS	APQPVSVGIA	HVVWPQPATT	KKNKQCQNRG	ILVKLMEWEP
790	800	810	820	830	840
GREEINAFSW	SNSLQNTNIP	HSAFISPKII	NGKDVEEVSC	IETQDNQNSE	GEARNCCETS
850	860	870	880	890	900
IRQDSDSSVS	DKQRQTIIIA	DSPSPAVSVI	TISSDTDEEE	TSQRHSLREC	KGSLDCEACQ
910	920	930	940	950	960
STLNIDRMCS	LSSPDSTLST	SSSGQSSPSP	CKRPNSMSDE	EQESSCDTVD	GSPTSDSSGH
970	980	990	1000	1010	1020
DSPFAESTFV	EDTHENTELV	SSADTETKPA	VCSVVVPPVE	LENGLNADEH	MANTDSICQP
1030	1040	1050	1060	1070	1080
LIKGRSAPGR	LNQPSAVGTR	QQKLTSAFQQ	QHLNFSQVQH	FGSGHQEWNG	NFGHRRQQAY
1090	1100	1110	1120	1130	1140
IPTSVTSNPF	TLSHGSPNHT	AVHAHLAGNT	HLGGQPTLLP	YPSSATLSSA	APVAHLLASP
1150	1160	1170	1180	1190	1200
CTSRPMLQHP	TYNISHPSGI	VHQVPVGLNP	RLLPSPTIHQ	TQYKPIFPPH	SYIAASPAYT
1210
GFPLSPTKLS	QYPYM