AiPD: Autoinhibited Protein Database

Q9H2X6

Gene name	HIPK2
Protein name	Homeodomain-interacting protein kinase 2
Names	hHIPk2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:28996
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class	DUAL SPECIFICITY PROTEIN KINASE (PTHR24058)

Descriptions

Homeodomain interacting protein kinase 2 (HIPK2) is an evolutionary conserved serine/threonine kinase that regulates gene expression by phosphorylation of transcription factors and accessory components of the transcription machinery. HIPK2 is activated in response to DNA-damaging agents or morphogenic signals and accordingly HIPK2-guided gene expression programs trigger differentiation and development or alternatively apoptosis. Truncation of the autoinhibitory domain between 935 and 1050 increases the activity of HIPK2 to phosphorylate p53 and to stimulate p53-dependent target gene expression and cell death.

Autoinhibitory domains (AIDs)

Target domain	199-527 (Protein kinase domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Mutagenesis experiment

AID

935-1050 (Autoinhibitory domain)

Target domain

199-527 (Protein kinase domain)

Relief mechanism

Partner binding (Axin binding to the autoinhibitory domain)

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

345-366 (Activation loop from InterPro)

Target domain	199-527 (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 Q9H2X6

Entry ID	Method	Resolution	Chain	Position	Source
6P5S	X-ray	219 A	A	177-547	PDB
7NCF	X-ray	272 A	A	183-547	PDB
AF-Q9H2X6-F1	Predicted				AlphaFoldDB

803 variants for Q9H2X6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA369573165 rs1450203403	3	P>L		No	ClinGen TOPMed
rs1338074689 CA369573150	6	E>K		No	ClinGen TOPMed
CA4511374 rs770305413	8	M>V		No	ClinGen ExAC gnomAD
CA369522984 rs760011575	9	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4511373 rs760011575	9	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4511372 rs771234997	11	H>P		No	ClinGen ExAC TOPMed gnomAD
CA4511370 rs746610328	11	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA4511371 rs771234997	11	H>R		No	ClinGen ExAC TOPMed gnomAD
CA369522969 rs1569480099	12	V>M		No	ClinGen Ensembl
rs1475042035 CA369522956	13	Q>H		No	ClinGen TOPMed gnomAD
CA369522955 rs1245970242	14	V>I		No	ClinGen gnomAD
CA4511367 rs747654281	19	T>I		No	ClinGen ExAC gnomAD
rs747654281 CA369522917	19	T>N		No	ClinGen ExAC gnomAD
rs1278706738 CA369522884	24	A>G		No	ClinGen gnomAD
rs779858149 CA4511363	29	K>E		No	ClinGen ExAC TOPMed gnomAD
CA369522810 rs1339231299	33	I>T		No	ClinGen gnomAD
COSM1596799 CA4511362 rs755866095	35	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs758660941 CA4511360	38	N>S		No	ClinGen ExAC TOPMed gnomAD
rs758660941 CA4511359	38	N>T		No	ClinGen ExAC TOPMed gnomAD
CA4511358 rs574939673	40	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs765254882 CA4511357	41	M>V		No	ClinGen ExAC gnomAD
rs779999860 CA167926859	43	G>R		No	ClinGen Ensembl
CA369522659 rs1361038408	44	Y>C		No	ClinGen gnomAD
CA4511355 rs188752635	45	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4511354 rs376416847	45	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA167926856 rs959052812	46	S>F		No	ClinGen Ensembl
CA369522638 rs1170379511	46	S>P		No	ClinGen gnomAD
rs773782325 CA4511353	47	H>L		No	ClinGen ExAC gnomAD
rs773782325 CA4511352	47	H>P		No	ClinGen ExAC gnomAD
CA369522616 rs773782325	47	H>R		No	ClinGen ExAC gnomAD
CA369522599 rs1336806503	49	K>E		No	ClinGen gnomAD
CA167926852 rs765999135	49	K>R		No	ClinGen Ensembl
CA4511351 rs771816410	50	V>A		No	ClinGen ExAC gnomAD
CA369522558 rs1483989386	51	Y>C		No	ClinGen gnomAD
rs544274991 CA4511349	52	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4511348 rs372112637	52	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA167926847 rs907544638	54	S>C		No	ClinGen TOPMed
CA4511347 rs749182137	54	S>N		No	ClinGen ExAC gnomAD
CA369522483 rs1585414708	55	K>E		No	ClinGen Ensembl
rs202073871 CA4511345	57	I>N		No	ClinGen ExAC gnomAD
rs202073871 CA369522439	57	I>T		No	ClinGen ExAC gnomAD
rs745656889 CA4511344	58	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758572771 CA4511342	59	L>P		No	ClinGen ExAC gnomAD
rs781016298 CA4511343	59	L>V		No	ClinGen ExAC gnomAD
CA4511341 rs762639929	60	S>L		No	ClinGen ExAC TOPMed gnomAD
CA369522367 rs1316586391	62	P>S		No	ClinGen TOPMed
rs755030266 CA4511339	64	T>N		No	ClinGen ExAC gnomAD
CA4511338 rs576969831	65	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201336118 CA4511335	67	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369827930 CA4511333	69	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511330 rs748732904	72	P>L		No	ClinGen ExAC TOPMed gnomAD
CA369522189 rs748732904	72	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA369522180 rs1585414520	73	V>F		No	ClinGen Ensembl
CA4511327 rs745830383	75	N>S		No	ClinGen ExAC gnomAD
CA369522156 rs745830383	75	N>T		No	ClinGen ExAC gnomAD
CA4511328 rs769698027	75	N>Y		No	ClinGen ExAC gnomAD
CA369522147 rs1585414481	76	P>A		No	ClinGen Ensembl
CA4511326 rs780924754	76	P>Q		No	ClinGen ExAC gnomAD
CA4511323 rs778994427	81	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4511322 rs755296991	82	Q>P		No	ClinGen ExAC gnomAD
CA4511319 rs756638561 COSM1448492	85	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs780228518 CA167926817	85	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4511320 rs780228518 COSM1448493	85	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4511317 rs767922812	89	S>C		No	ClinGen ExAC gnomAD
CA369522009 rs1459283274	90	T>I		No	ClinGen TOPMed gnomAD
rs536171726 CA4511315	91	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747709692 CA4511313 COSM3832051	94	V>M	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA369521948 rs1189953399	100	S>N		No	ClinGen gnomAD
CA4511310 rs759402713	101	T>P		No	ClinGen ExAC gnomAD
CA4511308 rs770917545	104	T>A		No	ClinGen ExAC gnomAD
CA369521911 rs1208347230	104	T>I		No	ClinGen gnomAD
rs777667216 CA4511306	105	G>R		No	ClinGen ExAC gnomAD
CA4511305 rs768735147	107	V>G		No	ClinGen ExAC gnomAD
rs756262865 CA4511302	109	G>A		No	ClinGen ExAC gnomAD
rs780236493 CA4511303	109	G>S		No	ClinGen ExAC gnomAD
CA4511300 rs781761115	110	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4511298 rs528047010	115	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA4511299 rs757903612	115	M>T		No	ClinGen ExAC gnomAD
CA167926800 rs776369379	116	R>C		No	ClinGen Ensembl
CA4511297 rs764542823 COSM3832048	117	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs764670764 CA4511295	121	S>I		No	ClinGen ExAC TOPMed gnomAD
CA4511294 rs764670764	121	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4511293 rs759036858	125	T>I		No	ClinGen ExAC gnomAD
CA369521525 rs1277697160	129	C>Y		No	ClinGen TOPMed
CA4511292 rs776192377	130	G>E		No	ClinGen ExAC gnomAD
rs371188483 CA4511291	133	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs371188483 CA369521438	133	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA369521421 rs1189882332	134	K>E		No	ClinGen gnomAD
rs760718990 CA4511290	134	K>R		No	ClinGen ExAC gnomAD
rs749400694 CA4511287	136	E>A		No	ClinGen ExAC gnomAD
rs749400694 CA4511288	136	E>G		No	ClinGen ExAC gnomAD
rs745936379 CA4511284	138	I>M		No	ClinGen ExAC TOPMed gnomAD
CA369521335 rs1254333286	138	I>N		No	ClinGen gnomAD
CA369521307 rs1463711994	139	E>K		No	ClinGen TOPMed
rs1357322569 CA369521247	141	T>K		No	ClinGen Ensembl
rs1023250674 CA167926788	142	S>G		No	ClinGen TOPMed
rs879174968 CA167926785	143	S>G		No	ClinGen Ensembl
rs113824554 CA167926783	143	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369521193 rs747583311	144	V>L		No	ClinGen ExAC gnomAD
rs747583311 CA4511281	144	V>M		No	ClinGen ExAC gnomAD
CA4511280 rs777933191	146	I>T		No	ClinGen ExAC gnomAD
CA369521127 rs1189944913	147	I>V		No	ClinGen TOPMed
CA369521107 rs542490482	148	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4511279 rs542490482	148	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369521089 rs754669097	149	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4511277 rs764868804	149	E>G		No	ClinGen ExAC gnomAD
CA4511278 rs753119905	149	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1456356549 CA369521064	150	H>Q		No	ClinGen TOPMed
CA4511275 rs753327187	153	M>V		No	ClinGen ExAC gnomAD
rs530352545 CA4511274	157	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA167926773 rs981522651	160	G>E		No	ClinGen Ensembl
rs767156658 CA4511271	160	G>R		No	ClinGen ExAC TOPMed gnomAD
rs577031287 CA369520810	161	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA4511269 rs577031287	161	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA369520800 rs1273878882	162	T>A		No	ClinGen gnomAD
CA4511266 rs776813164	163	V>G		No	ClinGen ExAC gnomAD
rs372037037 CA4511264	164	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338285849 CA369520765	164	A>V		No	ClinGen gnomAD
CA369520751 rs1396142366	166	A>S		No	ClinGen gnomAD
CA369520745 rs1396142366	166	A>T		No	ClinGen gnomAD
rs758898326 CA4511262	168	T>M		No	ClinGen ExAC gnomAD
rs1448761873 CA369520583	174	K>R		No	ClinGen TOPMed
rs746787655 CA167926764	175	N>D		No	ClinGen TOPMed gnomAD
rs368174633 CA4511257	177	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375141572 CA4511256	178	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511254 rs767483426	179	N>H		No	ClinGen ExAC gnomAD
rs1483960672 CA369520476	179	N>S		No	ClinGen TOPMed gnomAD
COSM3778153 rs1585413725 CA369520455	180	S>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1410172491 CA369520451	180	S>N		No	ClinGen TOPMed
CA4511251 rs764002747	183	D>N		No	ClinGen ExAC gnomAD
CA369520243 rs1585413693	187	V>G		No	ClinGen Ensembl
CA369520225 rs1285640623	188	Q>H		No	ClinGen gnomAD
rs1585413676 CA369520137	191	V>G		No	ClinGen Ensembl
rs1585413666 CA369520123	193	C>R		No	ClinGen Ensembl
rs900697694 CA167926756	194	S>C		No	ClinGen TOPMed gnomAD
rs770843085 CA167926755	195	M>V		No	ClinGen Ensembl
CA369520009 rs759766196	196	T>N		No	ClinGen ExAC gnomAD
rs759766196 CA4511250	196	T>S		No	ClinGen ExAC gnomAD
rs1409540395 CA369519964	198	T>A		No	ClinGen TOPMed
rs771118504 CA4511248	199	Y>C		No	ClinGen ExAC
rs1317231863 CA369519779 COSM3703149	204	F>L	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA167926751 rs749431014	205	L>V		No	ClinGen Ensembl
rs778077114 CA167926748 COSM3411653	207	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs748679608 CA4511244	209	T>M		No	ClinGen ExAC gnomAD
CA167926746 rs746938596	212	Q>R		No	ClinGen Ensembl
CA369519601 rs1382262276	214	V>I		No	ClinGen TOPMed gnomAD
rs1585413513 CA369519576	215	K>R		No	ClinGen Ensembl
rs779205072 CA4511243	219	R>Q		No	ClinGen ExAC gnomAD
rs1462160260 CA369519448	219	R>W		No	ClinGen gnomAD
rs769008284 CA4511242	221	T>I		No	ClinGen ExAC gnomAD
rs748879672 CA4511241	222	N>S		No	ClinGen ExAC TOPMed gnomAD
CA167926742 rs1047433519	225	V>I		No	ClinGen TOPMed gnomAD
CA369519290 rs1353105992	227	I>V		No	ClinGen TOPMed
CA4511239 rs755788299	228	K>M		No	ClinGen ExAC
CA4511234 rs763923302	238	R>Q		No	ClinGen ExAC gnomAD
CA4511233 rs375404752	240	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1436374881 CA369518955	244	V>L		No	ClinGen TOPMed gnomAD
rs899098605 CA167926728	249	R>Q		No	ClinGen TOPMed gnomAD
CA167926730 rs201571339	249	R>W		No	ClinGen TOPMed
CA167926727 rs1055074926	252	T>M		No	ClinGen gnomAD
CA4511229 rs377036744	256	D>N		No	ClinGen ESP ExAC gnomAD
CA4511228 rs569105631	258	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4511225 rs769206499	261	V>I		No	ClinGen ExAC TOPMed gnomAD
rs201003985 CA4511223	262	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4511224 rs201003985	262	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs372688648 CA167926719	262	R>W		No	ClinGen ESP TOPMed gnomAD
rs780713334 CA4511220	265	E>G		No	ClinGen ExAC gnomAD
CA369518607 rs756842940	266	C>S		No	ClinGen ExAC gnomAD
rs756842940 CA4511219	266	C>Y		No	ClinGen ExAC gnomAD
CA4511218 rs751172786	267	F>L		No	ClinGen ExAC gnomAD
CA167926713 rs369422642	267	F>V		No	ClinGen ESP TOPMed
CA4511217 rs777851674	270	K>R		No	ClinGen ExAC gnomAD
rs758451789 CA4511216	271	N>S		No	ClinGen ExAC gnomAD
rs1391822581 CA369518528	272	H>D		No	ClinGen TOPMed
rs752518503 CA4511215 COSM1448488	273	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs756324420 CA4511213	281	E>D		No	ClinGen ExAC TOPMed gnomAD
CA369518386 rs1360191503	282	Q>R		No	ClinGen TOPMed
CA369518375 rs1345862175	283	N>D		No	ClinGen TOPMed gnomAD
rs750610684 CA369518326	286	D>E		No	ClinGen ExAC gnomAD
rs1412712569 CA369518291	291	N>S		No	ClinGen gnomAD
CA4511211 rs767523092	292	K>E		No	ClinGen ExAC gnomAD
CA4511210 rs761865721 COSM1137648	292	K>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1388077472 CA369518270	294	S>N		No	ClinGen gnomAD
CA4511209 rs774477756	295	P>T		No	ClinGen ExAC gnomAD
CA167926700 rs369553560	298	L>H		No	ClinGen ESP
CA369518231 rs1585413095	300	Y>C		No	ClinGen Ensembl
CA4511205 rs770086216	301	I>N		No	ClinGen ExAC gnomAD
rs745467395 CA4511204	302	R>C		No	ClinGen ExAC TOPMed gnomAD
rs776135107 CA4511203	302	R>H		No	ClinGen ExAC TOPMed gnomAD
CA369518220 rs745467395	302	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1440379948 CA369518216	303	P>S		No	ClinGen TOPMed
CA369518200 rs1230898544	305	L>P		No	ClinGen gnomAD
CA369518204 rs1295769819	305	L>V		No	ClinGen TOPMed gnomAD
rs746489231 CA4511201	309	A>S		No	ClinGen ExAC gnomAD
rs1445967484 CA369518164	311	A>P		No	ClinGen gnomAD
rs1215891769 CA369518158	312	L>V		No	ClinGen gnomAD
rs777477670 CA4511200	316	K>Q		No	ClinGen ExAC gnomAD
CA4511199 rs758365437	317	S>N		No	ClinGen ExAC gnomAD
CA369518116 rs1186117407	318	L>V		No	ClinGen TOPMed
CA4511197 rs778706926	333	V>L		No	ClinGen ExAC gnomAD
rs778706926 CA369517969	333	V>M		No	ClinGen ExAC gnomAD
CA167926689 rs886174499	344	V>I		No	ClinGen TOPMed gnomAD
rs753720650 CA4511195	345	I>V		No	ClinGen ExAC gnomAD
rs764180061 CA4511191	353	V>I		No	ClinGen ExAC TOPMed gnomAD
rs781660779 CA167926683	358	C>S		No	ClinGen gnomAD
rs1308418473 CA369517640	363	Q>R		No	ClinGen gnomAD
rs1569459177 CA369523284	369	A>T		No	ClinGen Ensembl
rs1191762899 CA369523246	374	L>P		No	ClinGen TOPMed gnomAD
rs752890410 CA369523201	381	A>S		No	ClinGen ExAC TOPMed gnomAD
rs752890410 CA4511170	381	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765632399 CA4511169	382	I>V		No	ClinGen ExAC TOPMed gnomAD
CA369523176 rs1366646394	384	M>I		No	ClinGen gnomAD
CA4511167 rs754209780	384	M>T		No	ClinGen ExAC gnomAD
CA4511168 rs760140980	384	M>V		No	ClinGen ExAC gnomAD
CA369523145 rs1438196354	389	C>Y		No	ClinGen gnomAD
rs748110718 CA4511165	391	I>N		No	ClinGen ExAC TOPMed gnomAD
rs748110718 CA167883106	391	I>T		No	ClinGen ExAC TOPMed gnomAD
rs985068417 CA167883081	397	G>V		No	ClinGen TOPMed
rs768453110 CA4511160	401	Y>C		No	ClinGen ExAC gnomAD
rs372252578 CA4511161	401	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA369523027 rs1569459130	407	Y>C		No	ClinGen Ensembl
rs779783511 CA4511158	408	D>Y		No	ClinGen ExAC gnomAD
COSM3411650 rs762809580 CA4511140	411	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs769789582 CA4511138	421	A>T		No	ClinGen ExAC gnomAD
rs1347587536 CA369522460	422	E>D		No	ClinGen TOPMed
rs530591248 CA4511136	427	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4511134 rs748435810	428	G>R		No	ClinGen ExAC gnomAD
rs778794392 CA4511133	429	T>I		No	ClinGen ExAC gnomAD
CA4511132 rs370656821	430	K>N		No	ClinGen ESP ExAC gnomAD
rs749441703 CA4511131	432	T>A		No	ClinGen ExAC TOPMed gnomAD
rs376167387 CA167882561	436	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511130 rs376167387	436	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376167387 CA369522239	436	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs756724364 CA4511129	437	R>C		No	ClinGen ExAC gnomAD
CA4511128 rs750791923	437	R>H		No	ClinGen ExAC gnomAD
rs1278180721 CA369522226	438	D>H		No	ClinGen TOPMed
CA4511127 rs767943877	439	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1224809722 CA369522185	441	S>*		No	ClinGen TOPMed
CA369522188 rs1447920751	441	S>P		No	ClinGen gnomAD
rs756817319 CA369522176	442	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756817319 CA4511126	442	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1423379788 CA369522150	444	P>T		No	ClinGen gnomAD
rs1212940156 CA369522118 COSM1448486	446	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA369522101 rs1273980906	447	R>K		No	ClinGen TOPMed
rs762436589 CA4511123	448	L>P		No	ClinGen ExAC gnomAD
rs1337906257 CA369521912	450	T>I		No	ClinGen gnomAD
CA4511104 rs758095051	452	D>Y		No	ClinGen ExAC gnomAD
rs764756104 CA4511102	453	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4511103 rs752153081	453	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1392507958 CA369521880	453	D>Y		No	ClinGen gnomAD
CA369521863 rs1321609551	454	H>R		No	ClinGen TOPMed
CA369521834 rs1411320732	457	E>K		No	ClinGen gnomAD
rs1156744475 CA369521817	458	T>I		No	ClinGen gnomAD
rs1232821696 CA369521815	459	G>R		No	ClinGen TOPMed gnomAD
CA369521781 rs1233261513	461	K>N		No	ClinGen gnomAD
CA4511101 rs759398905	461	K>R		No	ClinGen ExAC gnomAD
rs1197851407 CA369521664	468	Y>C		No	ClinGen gnomAD
rs1182918585 CA369521660	469	I>L		No	ClinGen gnomAD
rs1254546284 CA369521554	473	L>V		No	ClinGen gnomAD
rs1213919449 CA369521509	474	D>E		No	ClinGen gnomAD
CA369521448 rs1265625120	477	A>D		No	ClinGen gnomAD
CA369521454 rs1464103561	477	A>T		No	ClinGen gnomAD
rs1433040487 CA369520350	479	V>M		No	ClinGen gnomAD
rs1345846635 CA369520324	480	N>I		No	ClinGen gnomAD
rs754495063 CA4511084	481	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4511083 rs753352107	482	T>M		No	ClinGen ExAC TOPMed gnomAD
CA369520167 rs1569457932	484	D>V		No	ClinGen Ensembl
rs1252008458 CA369520157	485	L>V		No	ClinGen TOPMed
rs760581872 CA4511081	486	E>G		No	ClinGen ExAC gnomAD
rs974387478 CA369520051	489	D>E		No	ClinGen TOPMed
CA4511079 rs767454229	489	D>N		No	ClinGen ExAC TOPMed gnomAD
CA369520040 rs1569457910	490	M>T		No	ClinGen Ensembl
CA369519860 rs1187876778	497	R>Q		No	ClinGen TOPMed gnomAD
rs1236311429 CA369519864	497	R>W		No	ClinGen TOPMed gnomAD
rs959126759 CA167878988	498	R>Q		No	ClinGen gnomAD
CA4511076 rs770199830	498	R>W		No	ClinGen ExAC gnomAD
CA4511075 rs759657312	499	E>G		No	ClinGen ExAC gnomAD
CA4511074 rs776622676	500	F>V		No	ClinGen ExAC gnomAD
CA4511073 rs372950682	501	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511072 rs747500553	504	L>S		No	ClinGen ExAC gnomAD
CA167878962 rs894385089	507	M>K		No	ClinGen TOPMed
CA369519471 rs1412882445	509	T>I		No	ClinGen TOPMed gnomAD
rs1412882445 CA369519475	509	T>N		No	ClinGen TOPMed gnomAD
rs778043532 CA4511071	512	A>G		No	ClinGen ExAC
rs748567056 CA4511069	514	K>Q		No	ClinGen ExAC gnomAD
rs779457298 CA4511065	519	I>V		No	ClinGen ExAC TOPMed gnomAD
rs369022855 CA4511063	520	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4511062 rs767365986	523	N>H		No	ClinGen ExAC gnomAD
CA369519152 rs1189251746	523	N>K		No	ClinGen gnomAD
CA369519159 rs1260289436	523	N>S		No	ClinGen gnomAD
CA369519143 rs1383397504	524	H>Y		No	ClinGen TOPMed
rs543724948 CA4511061	525	P>A		No	ClinGen ExAC TOPMed gnomAD
CA167878855 rs887179043	525	P>L		No	ClinGen TOPMed gnomAD
rs543724948 CA167878856	525	P>T		No	ClinGen ExAC TOPMed gnomAD
CA4511060 rs751468746	526	F>S		No	ClinGen ExAC TOPMed gnomAD
CA369519069 rs1282903065	528	T>I		No	ClinGen TOPMed
CA4511058 rs759698867	531	H>P		No	ClinGen ExAC gnomAD
CA369519009 rs759698867	531	H>R		No	ClinGen ExAC gnomAD
CA4511057 rs776731877	533	L>P		No	ClinGen ExAC gnomAD
rs770918396 CA4511056	534	D>N		No	ClinGen ExAC TOPMed gnomAD
rs770918396 CA369518948	534	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA4511033 rs767985572	541	V>I		No	ClinGen ExAC gnomAD
CA4511032 rs774661798	545	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1368683419 CA369517072	551	C>S		No	ClinGen TOPMed
COSM1596807 rs774993972 CA4511028	553	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs188322077 CA4511027	553	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4511025 rs780898575	554	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4511026 rs745341860	554	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746947115 CA4511023	555	V>G		No	ClinGen ExAC gnomAD
CA4511024 rs778977393	555	V>M		No	ClinGen ExAC TOPMed gnomAD
CA167873215 rs920057163	557	M>T		No	ClinGen TOPMed
rs777565233 CA4511022	557	M>V		No	ClinGen ExAC TOPMed gnomAD
rs998820274 CA167873214	560	T>M		No	ClinGen TOPMed gnomAD
CA369516850 rs1346885315	563	Q>R		No	ClinGen gnomAD
rs750450028 CA4511017	570	T>M		No	ClinGen ExAC TOPMed gnomAD
rs750450028 CA369516702	570	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1425069865 CA369516690	571	H>Y		No	ClinGen TOPMed
CA369516671 rs1386481971	572	V>M		No	ClinGen TOPMed gnomAD
rs764723582 CA4511013	573	A>V		No	ClinGen ExAC gnomAD
rs981119364 CA167873152	576	T>M		No	ClinGen TOPMed gnomAD
rs935772891 CA167873154	576	T>S		No	ClinGen TOPMed
rs367785445 CA167873151	578	T>S		No	ClinGen ESP
rs144194569 CA4511010	579	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1402954223 CA369516538	579	N>S		No	ClinGen TOPMed
rs1395967965 CA369516527	580	L>M		No	ClinGen gnomAD
CA4511009 rs759292885	582	M>V		No	ClinGen ExAC gnomAD
CA369516434 rs1187050333	586	N>S		No	ClinGen gnomAD
rs1277963967 CA369516427	587	Q>E		No	ClinGen gnomAD
rs1277963967 CA369516428	587	Q>K		No	ClinGen gnomAD
CA167873131 rs760991739	591	V>A		No	ClinGen TOPMed gnomAD
rs748145285 CA4510984	595	A>D		No	ClinGen ExAC TOPMed gnomAD
CA369514755 rs1175413803	595	A>P		No	ClinGen TOPMed
rs778509901 CA369514743	596	P>A		No	ClinGen ExAC TOPMed gnomAD
CA369514736 rs1332014375	596	P>L		No	ClinGen gnomAD
CA369514738 rs1332014375	596	P>R		No	ClinGen gnomAD
rs778509901 CA4510983	596	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1409988971 CA369514731	597	S>A		No	ClinGen Ensembl
CA167868691 rs768457644	597	S>C		No	ClinGen ExAC TOPMed gnomAD
rs768457644 CA4510982	597	S>F		No	ClinGen ExAC TOPMed gnomAD
rs749142215 CA167868657	598	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4510981 rs749142215	598	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1341456470 CA369514712	599	T>A		No	ClinGen gnomAD
rs781391926 CA4510980	600	S>R		No	ClinGen ExAC gnomAD
rs199879002 CA4510978	602	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4510977 rs199879002	602	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4510976 rs558445929	607	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4510975 rs753260718	608	P>A		No	ClinGen ExAC gnomAD
CA369514585 rs927228887	609	E>*		No	ClinGen TOPMed gnomAD
CA167868626 rs927228887	609	E>K		No	ClinGen TOPMed gnomAD
CA369514522 rs1372702299	617	S>P		No	ClinGen TOPMed
rs1017224152 CA167868617	618	T>A		No	ClinGen TOPMed
rs971181573 CA167868612	619	L>H		No	ClinGen Ensembl
CA369514487 rs754291827	620	Y>*		No	ClinGen ExAC gnomAD
rs1179442627 CA369514484	621	Q>*		No	ClinGen gnomAD
CA4510971 rs373468541	622	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA167868599 COSM1154775 rs1020138286	624	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1274439157 CA369514413	626	S>P		No	ClinGen gnomAD
CA4510968 rs369052622	627	M>V		No	ClinGen ESP ExAC gnomAD
COSM1150597 rs1357622639 CA369514376	628	A>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs774261466 CA4510966	629	A>S		No	ClinGen ExAC gnomAD
rs774261466 CA369514373	629	A>T		No	ClinGen ExAC gnomAD
rs376489732 CA4510964	631	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4510963 rs775314427	633	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA167868530 rs956831465	633	R>W		No	ClinGen Ensembl
CA369514287 rs771010120	635	M>I		No	ClinGen ExAC gnomAD
CA4510961 rs771010120	635	M>I		No	ClinGen ExAC gnomAD
CA4510960 rs201615330	636	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1480654930 CA369514270	637	L>V		No	ClinGen TOPMed
rs1585278972 CA369514258	638	Q>R		No	ClinGen Ensembl
CA369514208 rs1384222257	642	A>S		No	ClinGen TOPMed gnomAD
CA369514212 rs1384222257	642	A>T		No	ClinGen TOPMed gnomAD
rs1000904312 CA167868480	643	Q>P		No	ClinGen Ensembl
CA369514164 rs1188236303	645	C>G		No	ClinGen TOPMed
rs758491660 CA4510958	645	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs748240698 CA4510957	646	A>T		No	ClinGen ExAC gnomAD
CA369514141 rs755587785	647	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4510955 rs755587785	647	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779530024 CA4510956	647	R>W		No	ClinGen ExAC gnomAD
rs1585278873 CA369514115	649	D>E		No	ClinGen Ensembl
CA369514123 rs1254370255	649	D>N		No	ClinGen gnomAD
CA167868464 rs373425042	650	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA369514106 rs373425042	650	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4510954 rs373425042	650	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1284249153 CA369514090	651	F>S		No	ClinGen gnomAD
CA369514059 rs1203894414	653	Q>H		No	ClinGen gnomAD
rs1213012778 CA369514050	654	A>G		No	ClinGen gnomAD
CA4510952 rs755651674	655	L>V		No	ClinGen ExAC gnomAD
rs767138100 CA4510950	657	V>M		No	ClinGen ExAC TOPMed gnomAD
CA167868417 rs1047236685	659	P>A		No	ClinGen TOPMed gnomAD
CA167868422 rs1047236685	659	P>T		No	ClinGen TOPMed gnomAD
CA369514001 rs1325923659	660	P>A		No	ClinGen gnomAD
CA369514000 rs1325923659	660	P>S		No	ClinGen gnomAD
rs369184245 CA4510946	661	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369513982 rs1402314668	663	Q>E		No	ClinGen gnomAD
CA4510945 rs775225921	663	Q>P		No	ClinGen ExAC gnomAD
rs1229253020 CA369513899	666	Q>R		No	ClinGen TOPMed
CA167867816 rs950014212	667	A>T		No	ClinGen TOPMed gnomAD
CA4510930 rs751023070	668	S>F		No	ClinGen ExAC gnomAD
rs1187851597 CA369513872	669	P>S		No	ClinGen gnomAD
CA4510927 rs752617083	673	A>P		No	ClinGen ExAC TOPMed gnomAD
CA369513832 rs752617083	673	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4510928 rs752617083	673	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4510925 rs35583497	674	G>S		No	ClinGen ExAC TOPMed gnomAD
CA369513788 rs1585277278	677	V>G		No	ClinGen Ensembl
CA4510923 rs772285960	677	V>M		No	ClinGen ExAC gnomAD
CA369513784 rs1231309890	678	R>Q		No	ClinGen gnomAD
CA369513778 rs986760320	679	M>L		No	ClinGen gnomAD
CA167867724 rs986760320	679	M>V		No	ClinGen gnomAD
CA369513761 rs1585277248	680	E>G		No	ClinGen Ensembl
rs774501853 CA4510921	682	A>S		No	ClinGen ExAC gnomAD
CA4510919 rs749441608 COSM1209686	686	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs770247779 CA4510917	687	T>A		No	ClinGen ExAC gnomAD
rs746224330 CA4510916	694	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746224330 CA369513607	694	P>R		No	ClinGen ExAC TOPMed gnomAD
CA369513609 rs1416430869	694	P>S		No	ClinGen gnomAD
CA167867716 rs567186214	699	P>A		No	ClinGen 1000Genomes
rs369637010 CA167867688	700	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369637010 CA4510914	700	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4510895 rs777370798	707	W>L		No	ClinGen ExAC gnomAD
CA167863352 rs896665236	708	P>S		No	ClinGen TOPMed gnomAD
rs1585264597 CA369512820	709	S>N		No	ClinGen Ensembl
CA4510893 rs752201719	712	Q>K		No	ClinGen ExAC gnomAD
rs1334561938 CA369512801	712	Q>P		No	ClinGen TOPMed
rs74372297 CA4510892	714	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs905506394 CA167863332	716	L>I		No	ClinGen TOPMed
rs1442542662 CA369512770	717	P>S		No	ClinGen gnomAD
rs755971499 CA4510888	718	P>R		No	ClinGen ExAC gnomAD
CA369512764 rs1231614534	718	P>T		No	ClinGen TOPMed
CA369512644 rs1160786043	726	V>M		No	ClinGen gnomAD
CA4510885 rs763294474	727	A>D		No	ClinGen ExAC gnomAD
rs1257368139 CA369512611	728	T>N		No	ClinGen Ensembl
rs1191973730 CA369512578	730	T>K		No	ClinGen gnomAD
rs1434981969 CA369512499	735	A>G		No	ClinGen gnomAD
rs1434981969 CA369512498	735	A>V		No	ClinGen gnomAD
rs1484828373 CA369512476	737	V>M		No	ClinGen TOPMed gnomAD
rs771467267 CA4510880	738	I>V		No	ClinGen ExAC gnomAD
rs1346864204 CA369512418	740	E>K		No	ClinGen TOPMed gnomAD
CA369512384 rs1277831491	742	M>T		No	ClinGen gnomAD
rs549262737 CA4510877	744	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4510876 rs530745135	749	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4510875 rs778426702	749	A>V		No	ClinGen ExAC TOPMed gnomAD
CA369512224 rs1585264295	750	D>G		No	ClinGen Ensembl
rs1585264278 CA369512201	752	R>G		No	ClinGen Ensembl
CA4510861 rs773495658	754	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4510858 rs773868543	755	H>L		No	ClinGen ExAC gnomAD
rs144631225 CA369511695	757	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748728818 CA4510856	758	G>R		No	ClinGen ExAC TOPMed gnomAD
CA369511686 rs1388954199	759	S>R		No	ClinGen TOPMed
rs371052046 CA4510855	760	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1402544141 CA369511673	760	H>Y		No	ClinGen gnomAD
rs993398535 CA167861667	764	I>L		No	ClinGen TOPMed
rs1288206389 CA369511612	765	M>V		No	ClinGen TOPMed
rs1415446944 CA369511552	768	P>S		No	ClinGen gnomAD
rs200945053 CA4510853	769	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA369511510 COSM1448476 rs1585259107	772	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA4510849 rs374685190	773	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4510848 rs755249664	774	H>R		No	ClinGen ExAC gnomAD
rs1374480280 CA369511447	775	V>G		No	ClinGen gnomAD
CA369511352 rs1440168346	780	A>V		No	ClinGen TOPMed
CA4510845 rs761107693	781	Q>H		No	ClinGen ExAC gnomAD
rs1054550380 CA167861648	784	N>S		No	ClinGen TOPMed gnomAD
CA167861645 rs891009217	790	V>M		No	ClinGen gnomAD
CA4510842 rs750726446	792	R>G		No	ClinGen ExAC TOPMed gnomAD
rs56132157 CA4510840 VAR_040547	792	R>Q		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA4510841 rs750726446	792	R>W		No	ClinGen ExAC TOPMed gnomAD
rs762701723 CA4510839	793	Q>*		No	ClinGen ExAC gnomAD
rs1460948222 CA369511175	795	P>S		No	ClinGen gnomAD
CA369511161 rs1388516961	796	T>I		No	ClinGen gnomAD
CA369511160 rs1164864525	797	S>R		No	ClinGen gnomAD
rs375497865 CA167861633	798	T>I		No	ClinGen ESP
rs769442831 CA4510837	799	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4510836 rs745430223	801	S>P		No	ClinGen ExAC gnomAD
rs770949231 CA4510834 COSM1448468	802	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4510835 rs781272894	802	R>W		No	ClinGen ExAC TOPMed gnomAD
CA369511123 rs1288357486	803	K>M		No	ClinGen gnomAD
CA369511121 rs1361953011	803	K>N		No	ClinGen gnomAD
CA369511111 rs1212149783	805	K>E		No	ClinGen gnomAD
CA369511101 rs1357565259	806	Q>R		No	ClinGen gnomAD
CA369511094 rs777655026	807	H>D		No	ClinGen ExAC TOPMed gnomAD
CA4510832 rs777655026	807	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs755087607 CA369511084	808	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA4510831 rs755087607	808	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA369511068 rs1379433806	811	V>L		No	ClinGen TOPMed gnomAD
rs754069451 CA4510830	812	R>T		No	ClinGen ExAC gnomAD
rs1276662845 CA369510628	815	S>F		No	ClinGen gnomAD
CA167860920 rs759087572	816	T>I		No	ClinGen ExAC TOPMed gnomAD
rs759087572 CA4510819	816	T>N		No	ClinGen ExAC TOPMed gnomAD
rs776224575 CA4510818	817	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs528825468 CA369510527	819	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4510817 rs528825468	819	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1360926125 CA369510491	820	S>Y		No	ClinGen gnomAD
CA4510816 rs373937725	823	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs963887108 CA167860910	825	I>M		No	ClinGen TOPMed gnomAD
CA4510814 rs199969137	825	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1423554841 CA369510288	829	Q>*		No	ClinGen gnomAD
CA369510249 rs1489512174	830	R>Q		No	ClinGen TOPMed gnomAD
CA369510226 rs780215904	831	S>C		No	ClinGen ExAC gnomAD
CA369510217 rs780215904	831	S>F		No	ClinGen ExAC gnomAD
rs1022367794 CA167860906	831	S>P		No	ClinGen TOPMed gnomAD
CA4510812 rs780215904	831	S>Y		No	ClinGen ExAC gnomAD
CA4510811 rs756380561	833	R>C		No	ClinGen ExAC TOPMed gnomAD
CA369510205 rs756380561	833	R>G		No	ClinGen ExAC TOPMed gnomAD
rs745902293 CA4510810	833	R>H		No	ClinGen ExAC TOPMed gnomAD
rs745902293 CA369510200	833	R>P		No	ClinGen ExAC TOPMed gnomAD
rs781367320 CA4510809	836	E>K		No	ClinGen ExAC gnomAD
CA4510808 rs757642518	838	T>A		No	ClinGen ExAC TOPMed gnomAD
CA369510154 rs757642518	838	T>P		No	ClinGen ExAC TOPMed gnomAD
CA4510805 rs758831488	841	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758831488 CA4510806	841	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4510804 rs374263328	841	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374263328 CA369510129	841	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1309609715 CA369510095	844	M>I		No	ClinGen TOPMed
CA369510096 rs1309609715	844	M>I		No	ClinGen TOPMed
CA369510104 rs1360560622	844	M>V		No	ClinGen gnomAD
CA4510803 rs371202598	845	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs966027443 CA369510064	847	S>C		No	ClinGen TOPMed gnomAD
CA167860882 rs966027443	847	S>G		No	ClinGen TOPMed gnomAD
CA4510800 rs765926754	848	S>G		No	ClinGen ExAC gnomAD
COSM1154774 rs760156592 CA4510799	849	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA369510034 rs1181666461	850	A>S		No	ClinGen TOPMed gnomAD
rs1471983665 CA369510031	850	A>V		No	ClinGen gnomAD
CA4510795 rs774155562	851	C>R		No	ClinGen ExAC gnomAD
rs746097594 CA4510793	851	C>S		No	ClinGen ExAC TOPMed gnomAD
CA4510794 rs746097594	851	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA4510792 rs376180392	852	S>G		No	ClinGen ESP ExAC gnomAD
rs1486484812 CA369510010	854	S>L		No	ClinGen TOPMed
CA4510790 rs747126338	854	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1226410521 CA369509997	856	T>S		No	ClinGen gnomAD
rs1380982814 CA369509994	857	C>R		No	ClinGen gnomAD
CA4510788 rs759024272	858	G>R		No	ClinGen ExAC gnomAD
rs1390756853 CA369509975	859	W>C		No	ClinGen TOPMed gnomAD
COSM4153883 rs374570079 CA4510786	861	D>N	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4510784 rs753515895	862	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1164613579 CA369509942	864	S>F		No	ClinGen gnomAD
CA369509941 rs1404021743	865	S>R		No	ClinGen gnomAD
CA4510782 rs766010178	866	T>S		No	ClinGen ExAC TOPMed gnomAD
CA167860862 rs369995117	868	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4510780 rs369995117	868	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760198380 CA4510781	868	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4510778 rs761773680	870	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4510779 rs547460978	870	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4510776 rs557572356	872	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA4510777 rs774069494	872	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4510774 rs776908150	873	Q>L		No	ClinGen ExAC gnomAD
CA4510775 rs776908150	873	Q>R		No	ClinGen ExAC gnomAD
CA369509884 rs1276314482	875	I>V		No	ClinGen TOPMed
CA369509860 COSM1154773 rs1222887042	878	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA369509846 rs1465698039	880	T>I		No	ClinGen TOPMed gnomAD
CA369509847 rs1465698039	880	T>S		No	ClinGen TOPMed gnomAD
CA167860859 rs377181369	884	T>A		No	ClinGen ESP
CA369509821 rs1446895902	884	T>M		No	ClinGen gnomAD
rs367751989 CA4510766	887	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4510765 rs755386169	889	T>I		No	ClinGen ExAC gnomAD
CA4510763 rs779731461	894	T>M		No	ClinGen ExAC gnomAD
rs371213842 CA4510760	895	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs371213842 CA369509747	895	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA369509746 rs761684082	896	E>K		No	ClinGen ExAC TOPMed gnomAD
rs761684082 CA4510759	896	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA369509728 rs1489402960	898	E>A		No	ClinGen gnomAD
rs751489905 CA4510758	902	H>R		No	ClinGen ExAC gnomAD
rs753842765 CA4510757	903	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4510733 rs567307034	907	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369506825 rs567307034	907	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1338964985 CA369506801	910	K>N		No	ClinGen gnomAD
rs369931135 CA4510731	913	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA167913626 rs912625901	914	N>D		No	ClinGen Ensembl
CA4510728 rs749766167	915	V>D		No	ClinGen ExAC gnomAD
CA4510729 rs769164072	915	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1192284314 CA369506736	920	T>S		No	ClinGen gnomAD
rs575877859 CA167913618	922	H>R		No	ClinGen Ensembl
rs746298288 CA4510725	923	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4510721 rs777181124	928	D>N		No	ClinGen ExAC TOPMed gnomAD
rs758295040 CA4510720	929	S>Y		No	ClinGen ExAC gnomAD
CA4510719 rs752560918	930	S>A		No	ClinGen ExAC gnomAD
rs1316626284 CA369506670	930	S>F		No	ClinGen gnomAD
CA4510717 rs201846027	932	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369506651 rs1189834491	933	T>S		No	ClinGen TOPMed
CA369506637 rs1310923864	935	P>R		No	ClinGen gnomAD
rs753734410 CA4510716	936	Y>S		No	ClinGen ExAC gnomAD
CA4510714 rs371916573	938	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1402391966 CA369506612	939	Q>R		No	ClinGen gnomAD
CA4510713 rs367907799	941	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4510711 rs550978102	941	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1548550 rs550978102 CA4510712	941	R>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA369506586 rs1336981977	943	G>E		No	ClinGen gnomAD
CA369506565 rs1569444984	946	N>S		No	ClinGen Ensembl
rs372955477 CA167913506	948	N>D		No	ClinGen TOPMed gnomAD
rs1237144133 CA369506546	949	A>S		No	ClinGen gnomAD
CA4510709 rs775857033	950	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1325054906 CA369506535	951	D>N		No	ClinGen TOPMed
rs777004868 CA4510706	958	N>D		No	ClinGen ExAC gnomAD
CA369506472 rs1264019282	959	H>Q		No	ClinGen gnomAD
rs1356155854 CA369506477	959	H>Y		No	ClinGen gnomAD
rs770533498 CA4510705	961	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4510703 rs777536755	963	N>K		No	ClinGen ExAC gnomAD
rs757838666 CA4510702	964	P>L		No	ClinGen ExAC gnomAD
CA369506445 rs1444663922	964	P>T		No	ClinGen gnomAD
rs747730038 CA4510701	965	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200640941 CA4510699	969	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369506400 COSM1448458 rs1202397897	971	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs757498258 CA4510696	974	T>I		No	ClinGen ExAC gnomAD
CA4510694 rs535648338	978	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4510693 rs368331725	980	L>W		No	ClinGen ESP ExAC gnomAD
rs1451571703 CA369506338	981	V>L		No	ClinGen TOPMed gnomAD
rs1212019100 CA369506325	983	C>R		No	ClinGen TOPMed gnomAD
rs1212019100 CA369506326	983	C>S		No	ClinGen TOPMed gnomAD
rs1490597097 CA369506323	983	C>Y		No	ClinGen gnomAD
CA369506314 rs1285658852	984	D>G		No	ClinGen gnomAD
CA369506307 rs765616125	985	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4510691 rs765616125	985	S>T		No	ClinGen ExAC TOPMed gnomAD
CA167913423 rs754917626	987	V>G		No	ClinGen Ensembl
CA369506291 rs1329291585	988	P>S		No	ClinGen TOPMed gnomAD
rs761529257 CA4510663	989	V>G		No	ClinGen ExAC TOPMed gnomAD
CA4510662 rs556051311	991	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1585227304 CA369506070	991	T>S		No	ClinGen Ensembl
CA4510661 rs768270210	992	S>G		No	ClinGen ExAC gnomAD
rs748876430 CA4510660	992	S>N		No	ClinGen ExAC gnomAD
CA369506065 rs748876430	992	S>T		No	ClinGen ExAC gnomAD
rs1200441504 CA369506059	993	H>R		No	ClinGen gnomAD
rs899588486 CA167906958	993	H>Y		No	ClinGen TOPMed gnomAD
rs780109584 CA167906937	995	S>*		No	ClinGen ExAC gnomAD
rs780109584 CA4510659	995	S>L		No	ClinGen ExAC gnomAD
rs1315237503 CA369506034	997	S>F		No	ClinGen TOPMed gnomAD
rs866647612 CA167906912	997	S>P		No	ClinGen Ensembl
CA4510657 rs769902193	998	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA369506028 rs769902193	998	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA369506024 rs1329984122	999	K>Q		No	ClinGen gnomAD
CA4510655 rs781075408	1003	S>F		No	ClinGen ExAC gnomAD
rs1323341834 CA369505990	1004	S>G		No	ClinGen gnomAD
CA4510654 rs376379874	1006	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1585227138 CA369505970	1007	T>P		No	ClinGen Ensembl
CA4510653 rs752980431	1008	S>P		No	ClinGen ExAC gnomAD
CA369505954 rs1378530022	1009	T>I		No	ClinGen gnomAD
CA369505959 rs1585227110	1009	T>P		No	ClinGen Ensembl
rs1050404523 CA167906881	1011	G>D		No	ClinGen Ensembl
CA369505943 rs1480935968	1011	G>S		No	ClinGen TOPMed gnomAD
rs755017265 CA4510651	1012	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1378681849 CA369505928	1013	S>F		No	ClinGen TOPMed
CA4510650 rs753964655	1015	G>R		No	ClinGen ExAC gnomAD
CA4510649 rs543223121	1016	S>N		No	ClinGen ExAC gnomAD
CA369505904 rs1292133457	1017	S>L		No	ClinGen gnomAD
rs756676356 CA4510648	1018	S>Y		No	ClinGen ExAC gnomAD
CA167906832 rs865973123	1019	G>E		No	ClinGen gnomAD
CA369505898 rs1350924595	1019	G>R		No	ClinGen gnomAD
CA4510646 rs767937322	1021	I>T		No	ClinGen ExAC TOPMed gnomAD
rs750686936 CA4510647	1021	I>V		No	ClinGen ExAC gnomAD
rs762140683 CA4510645	1022	T>N		No	ClinGen ExAC TOPMed gnomAD
CA369505882 rs1585227015	1022	T>P		No	ClinGen Ensembl
CA4510643 rs373403455	1024	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs774143609 CA4510644	1024	R>W		No	ClinGen ExAC TOPMed gnomAD
rs35255718 VAR_040548 CA4510641	1027	R>Q		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs762529690 CA4510642	1027	R>W		No	ClinGen ExAC TOPMed gnomAD
CA167906774 rs909365400	1028	P>L		No	ClinGen TOPMed gnomAD
CA369505839 rs1301899753	1029	G>D		No	ClinGen TOPMed
rs35105635 CA4510639	1030	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369505828 rs1481326908	1031	H>P		No	ClinGen gnomAD
rs1481326908 CA369505827	1031	H>R		No	ClinGen gnomAD
rs1237849740 CA369505829	1031	H>Y		No	ClinGen TOPMed
rs1215577572 CA369505811	1033	Q>R		No	ClinGen TOPMed gnomAD
rs56300656 CA167906769	1035	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369505784 rs1215895008	1037	P>A		No	ClinGen gnomAD
CA369505762 rs1487728237	1040	L>F		No	ClinGen TOPMed
rs1301256559 CA369505753	1041	S>I		No	ClinGen gnomAD
rs1244366051 CA369505711	1045	Q>P		No	ClinGen gnomAD
CA4510608 rs745975390	1047	I>M		No	ClinGen ExAC gnomAD
CA4510609 rs756212286	1047	I>N		No	ClinGen ExAC gnomAD
CA369505684 rs1253412738	1049	T>M		No	ClinGen gnomAD
CA369505681 rs1228560735	1050	D>Y		No	ClinGen gnomAD
rs369198128 CA4510607	1051	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA369505673 rs866984851	1051	R>H		No	ClinGen gnomAD
rs866984851 CA167905124	1051	R>L		No	ClinGen gnomAD
CA369505674 rs369198128	1051	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383599186 CA369505667	1052	T>S		No	ClinGen gnomAD
CA4510602 rs752386966	1053	G>E		No	ClinGen ExAC gnomAD
CA4510603 rs758069044	1053	G>W		No	ClinGen ExAC gnomAD
CA369505656 rs1298558940	1054	S>N		No	ClinGen gnomAD
rs1457165983 CA369505650	1055	H>R		No	ClinGen gnomAD
rs1366353963 CA369505644	1056	R>*		No	ClinGen gnomAD
CA4510601 rs764835080	1056	R>Q		No	ClinGen ExAC gnomAD
rs1444773116 CA369505627	1058	Q>H		No	ClinGen gnomAD
CA369505622 rs1585224480	1059	Q>P		No	ClinGen Ensembl
rs759061928 CA4510600	1060	A>S		No	ClinGen ExAC TOPMed gnomAD
CA369505609 rs753307032	1061	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4510599 rs753307032	1061	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1585224448 CA369505599	1063	T>P		No	ClinGen Ensembl
CA4510597 rs760610598	1064	P>A		No	ClinGen ExAC gnomAD
rs375184224 CA4510596	1066	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288676257 CA369505569	1067	A>V		No	ClinGen gnomAD
rs541983791 CA4510595	1068	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1289940236 CA369505550	1070	P>L		No	ClinGen gnomAD
rs1230019347 CA369505553	1070	P>S		No	ClinGen TOPMed gnomAD
rs1026893000 CA369505537	1072	S>C		No	ClinGen Ensembl
rs1026893000 CA167904999	1072	S>F		No	ClinGen Ensembl
rs371975835 CA167904986	1073	F>L		No	ClinGen ESP gnomAD
CA4510594 rs761661585	1073	F>V		No	ClinGen ExAC gnomAD
rs775752128 CA369505526	1074	P>L		No	ClinGen ExAC gnomAD
CA4510593 rs775752128	1074	P>Q		No	ClinGen ExAC gnomAD
rs769961103 CA4510592	1077	S>R		No	ClinGen ExAC gnomAD
rs368094721 CA4510591	1078	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA369505492 rs1363466282	1079	S>I		No	ClinGen gnomAD
rs377054672 CA167904963	1080	H>Q		No	ClinGen ESP TOPMed gnomAD
CA369505484 rs1264423567	1080	H>R		No	ClinGen TOPMed
rs781161791 CA4510590	1081	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1156325133 CA369505470	1083	V>L		No	ClinGen gnomAD
rs1585224313 CA369505462	1084	H>P		No	ClinGen Ensembl
rs747535840 CA4510588	1085	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1447630005 CA369505448	1086	H>P		No	ClinGen gnomAD
rs1183149672 CA369505432	1089	A>T		No	ClinGen gnomAD
CA4510584 rs778576105	1091	A>P		No	ClinGen ExAC gnomAD
rs778576105 CA4510585	1091	A>T		No	ClinGen ExAC gnomAD
CA4510582 rs368528575	1093	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs754614157 CA4510583	1093	A>P		No	ClinGen ExAC gnomAD
CA4510581 rs368528575	1093	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs760236553 CA4510580	1094	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1460832644 CA369505402	1095	H>D		No	ClinGen TOPMed
rs767482011 CA369505399	1095	H>L		No	ClinGen ExAC gnomAD
rs767482011 CA369505400	1095	H>P		No	ClinGen ExAC gnomAD
CA4510577 rs767482011	1095	H>R		No	ClinGen ExAC gnomAD
rs761575499 CA369505396	1096	L>F		No	ClinGen ExAC TOPMed gnomAD
CA369505393 rs1585224162	1096	L>P		No	ClinGen Ensembl
CA4510575 rs761575499	1096	L>V		No	ClinGen ExAC TOPMed gnomAD
rs774038916 CA4510574	1097	P>H		No	ClinGen ExAC gnomAD
CA4510572 rs759686165	1098	T>I		No	ClinGen ExAC gnomAD
CA4510573 rs770019150	1098	T>P		No	ClinGen ExAC TOPMed gnomAD
rs770019150 CA369505385	1098	T>S		No	ClinGen ExAC TOPMed gnomAD
rs771123672 CA4510570	1100	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1305766466 CA369505364	1101	H>L		No	ClinGen TOPMed
CA167904868 rs906592701	1102	L>F		No	ClinGen TOPMed gnomAD
CA369505361 rs906592701	1102	L>I		No	ClinGen TOPMed gnomAD
rs747155656 CA4510569	1103	Y>N		No	ClinGen ExAC gnomAD
rs748501094 CA4510566	1106	T>A		No	ClinGen ExAC gnomAD
CA369505334 rs748501094	1106	T>S		No	ClinGen ExAC gnomAD
rs375558560 CA4510565	1107	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA369505323 rs1270386775	1108	P>S		No	ClinGen TOPMed
rs779821211 CA4510562	1113	S>C		No	ClinGen ExAC gnomAD
rs749985664 CA369505285	1115	G>C		No	ClinGen ExAC TOPMed gnomAD
CA369505284 rs1199902615	1115	G>D		No	ClinGen gnomAD
rs749985664 CA4510561	1115	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4510560 rs749985664	1115	G>S		No	ClinGen ExAC TOPMed gnomAD
rs751302512 CA4510557	1117	V>M		No	ClinGen ExAC gnomAD
rs1326616785 CA369505235	1123	S>L		No	ClinGen gnomAD
rs763813001 CA4510556	1123	S>T		No	ClinGen ExAC gnomAD
CA167904714 rs146609551	1124	Q>*		No	ClinGen 1000Genomes
CA369505219 rs1250027962	1126	S>A		No	ClinGen TOPMed
CA369505210 rs1449763097	1127	A>G		No	ClinGen TOPMed gnomAD
CA369505211 rs1449763097	1127	A>V		No	ClinGen TOPMed gnomAD
rs945360375 CA167904708	1128	R>C		No	ClinGen TOPMed
CA4510553 rs574613144	1128	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs945360375 CA167904709	1128	R>S		No	ClinGen TOPMed
CA369505203 rs1470539114	1129	H>R		No	ClinGen gnomAD
CA369419595 rs1166409323	1130	T>A		No	ClinGen gnomAD
rs773455086 CA4510551	1130	T>I		No	ClinGen ExAC gnomAD
CA4510547 rs768898572	1131	V>G		No	ClinGen ExAC TOPMed gnomAD
CA4510549 rs370105109	1131	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4510548 rs370105109 COSM1150596	1131	V>M	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA369419579 rs1244955430	1132	Q>H		No	ClinGen gnomAD
CA167904656 rs565434525	1136	Y>H		No	ClinGen Ensembl
CA369419555 rs1457185151	1136	Y>S		No	ClinGen gnomAD
rs1270666665 CA369419547	1137	P>S		No	ClinGen gnomAD
CA4510545 rs779656979	1138	A>G		No	ClinGen ExAC gnomAD
CA369419529 rs1585223788	1140	I>V		No	ClinGen Ensembl
rs921463007 CA167904648	1141	V>I		No	ClinGen gnomAD
rs556337946 CA4510542	1144	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs544605371 CA4510540	1146	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369419483 rs1354422226	1147	S>T		No	ClinGen TOPMed gnomAD
CA4510539 rs764160813	1148	M>V		No	ClinGen ExAC gnomAD
rs1012836104 CA167904635	1149	G>D		No	ClinGen TOPMed
CA4510538 rs758100204	1151	R>Q		No	ClinGen ExAC gnomAD
CA369419458 rs1420497638	1151	R>W		No	ClinGen gnomAD
rs752555598 CA4510537	1155	S>L		No	ClinGen ExAC gnomAD
CA369419431 rs1353936172	1156	P>S		No	ClinGen TOPMed
rs1585223663 CA369419425	1157	T>P		No	ClinGen Ensembl
rs1585223650 CA369419411	1159	H>P		No	ClinGen Ensembl
rs773365235 CA4510534	1160	P>S		No	ClinGen ExAC gnomAD
rs1438182319 CA369419386	1162	Q>H		No	ClinGen gnomAD
CA369419381 rs1288770060	1163	Y>C		No	ClinGen gnomAD
CA369419345 rs1227950398	1168	A>G		No	ClinGen gnomAD
rs1585223614 CA369419347	1168	A>S		No	ClinGen Ensembl
rs1038630445 CA167904560	1169	H>Q		No	ClinGen TOPMed gnomAD
CA369419318 rs1585223582	1172	Y>C		No	ClinGen Ensembl
CA369419313 rs1323609712	1173	I>L		No	ClinGen TOPMed
rs774689345 CA4510531	1173	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1481122311 CA369419284	1177	P>L		No	ClinGen TOPMed
rs775864063 CA4510528	1177	P>S		No	ClinGen ExAC gnomAD
CA4510526 rs745534344	1178	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1164315294 CA369419271	1180	T>A		No	ClinGen TOPMed gnomAD
CA369419270 rs1164315294	1180	T>S		No	ClinGen TOPMed gnomAD
CA4510524 rs770345730	1181	V>F		No	ClinGen ExAC TOPMed gnomAD
rs770345730 CA4510525	1181	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1470416769 CA369419246	1184	G>E		No	ClinGen gnomAD
CA4510522 rs777552589	1184	G>R		No	ClinGen ExAC gnomAD
CA369419214 rs1267876384	1189	P>S		No	ClinGen gnomAD
CA369419210 rs1490744666	1190	A>T		No	ClinGen gnomAD
CA369419207 rs1291978749	1190	A>V		No	ClinGen gnomAD
rs373765956 CA4510518	1192	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754874476 CA4510517	1194	Q>*		No	ClinGen ExAC gnomAD
rs750669012 CA4510516	1194	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4510515 rs767889986	1195	Y>N		No	ClinGen ExAC gnomAD
rs1347631442 CA369419168	1196	P>S		No	ClinGen gnomAD
CA4510514 rs761776719	1197	Y>*		No	ClinGen ExAC gnomAD
rs751681164 CA4510513	1198	I>M		No	ClinGen ExAC TOPMed gnomAD
CA369419152 rs1343483066	1198	I>R		No	ClinGen gnomAD
rs1463251475 CA369419151	1199	I>K		No	ClinGen TOPMed

No associated diseases with Q9H2X6

3 regional properties for Q9H2X6

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	199 - 527	IPR000719
active_site	Serine/threonine-protein kinase, active site	320 - 332	IPR008271
binding_site	Protein kinase, ATP binding site	205 - 228	IPR017441

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Nucleus, PML body Cytoplasm Cytoplasm, Stress granule	Concentrated in PML/POD/ND10 nuclear bodies Small amounts are cytoplasmic
PANTHER Family	PTHR24058	DUAL SPECIFICITY PROTEIN KINASE
PANTHER Subfamily	PTHR24058:SF53	HOMEODOMAIN-INTERACTING PROTEIN KINASE 2
PANTHER Protein Class	protein modifying enzyme
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.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
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.
RNA polymerase II transcription regulator complex	A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II.

11 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.
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
SMAD binding	Binding to a SMAD signaling protein.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.
virion binding	Binding to a virion, either by binding to components of the capsid or the viral envelope.

38 GO annotations of biological process

Name	Definition
adult walking behavior	The behavior of an adult relating to the progression of that organism along the ground by the process of lifting and setting down each leg.
anterior/posterior pattern specification	The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism.
cellular response to hypoxia	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, resulting in the induction of the transcription of p21 (also known as WAF1, CIP1 and SDI1) or any equivalent protein, in response to the detection of DNA damage.
embryonic camera-type eye morphogenesis	The process in which the anatomical structures of the eye are generated and organized during embryonic development.
embryonic retina morphogenesis in camera-type eye	The process in which the anatomical structure of the retina is generated and organized in a camera-type eye during the embryonic life stage.
erythrocyte differentiation	The process in which a myeloid precursor cell acquires specializes features of an erythrocyte.
eye development	The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight.
intrinsic apoptotic signaling pathway	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP).
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
iris morphogenesis	The process in which the iris is generated and organized. The iris is an anatomical structure in the eye whose opening forms the pupil. The iris is responsible for controlling the diameter and size of the pupil and the amount of light reaching the retina.
lens induction in camera-type eye	Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens.
negative regulation of BMP signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway.
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of ubiquitin-dependent protein catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin-dependent protein catabolic process.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
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.
PML body organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of PML bodies, a class of nuclear body; they react against SP100 auto-antibodies (PML = promyelocytic leukemia).
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of DNA binding	Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).
positive regulation of DNA-binding transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of protein binding	Any process that activates or increases the frequency, rate or extent of protein binding.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of transforming growth factor beta receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of signal transduction by p53 class mediator	Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator.
retina layer formation	The process in which the vertebrate retina is organized into three laminae: the outer nuclear layer (ONL), which contains photoreceptor nuclei; the inner nuclear layer (INL), which contains amacrine, bipolar and horizontal cells; and the retinal ganglion cell (RGC) layer. Between the inner and outer nuclear layers, the outer plexiform layer (OPL) contains connections between the photoreceptors and bipolar and horizontal cells. The inner plexiform layer (IPL) is positioned between the INL and the ganglion cell layer and contains the dendrites of RGCs and processes of bipolar and amacrine cells. Spanning all layers of the retina are the radially oriented Mueller glia.
SMAD protein signal transduction	The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell.
smoothened signaling pathway	The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.
transforming growth factor beta receptor signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
voluntary musculoskeletal movement	The movement of an organism or part of an organism using mechanoreceptors, the nervous system, striated muscle and/or the skeletal system that can be controlled at will.

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
Q9H422	HIPK3	Homeodomain-interacting protein kinase 3	Homo sapiens (Human)	SS
Q8NE63	HIPK4	Homeodomain-interacting protein kinase 4	Homo sapiens (Human)	PR
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
MAPVYEGMAS	HVQVFSPHTL	QSSAFCSVKK	LKIEPSSNWD	MTGYGSHSKV	YSQSKNIPLS
70	80	90	100	110	120
QPATTTVSTS	LPVPNPSLPY	EQTIVFPGST	GHIVVTSASS	TSVTGQVLGG	PHNLMRRSTV
130	140	150	160	170	180
SLLDTYQKCG	LKRKSEEIEN	TSSVQIIEEH	PPMIQNNASG	ATVATATTST	ATSKNSGSNS
190	200	210	220	230	240
EGDYQLVQHE	VLCSMTNTYE	VLEFLGRGTF	GQVVKCWKRG	TNEIVAIKIL	KNHPSYARQG
250	260	270	280	290	300
QIEVSILARL	STESADDYNF	VRAYECFQHK	NHTCLVFEML	EQNLYDFLKQ	NKFSPLPLKY
310	320	330	340	350	360
IRPVLQQVAT	ALMKLKSLGL	IHADLKPENI	MLVDPSRQPY	RVKVIDFGSA	SHVSKAVCST
370	380	390	400	410	420
YLQSRYYRAP	EIILGLPFCE	AIDMWSLGCV	IAELFLGWPL	YPGASEYDQI	RYISQTQGLP
430	440	450	460	470	480
AEYLLSAGTK	TTRFFNRDTD	SPYPLWRLKT	PDDHEAETGI	KSKEARKYIF	NCLDDMAQVN
490	500	510	520	530	540
MTTDLEGSDM	LVEKADRREF	IDLLKKMLTI	DADKRITPIE	TLNHPFVTMT	HLLDFPHSTH
550	560	570	580	590	600
VKSCFQNMEI	CKRRVNMYDT	VNQSKTPFIT	HVAPSTSTNL	TMTFNNQLTT	VHNQAPSSTS
610	620	630	640	650	660
ATISLANPEV	SILNYPSTLY	QPSAASMAAV	AQRSMPLQTG	TAQICARPDP	FQQALIVCPP
670	680	690	700	710	720
GFQGLQASPS	KHAGYSVRME	NAVPIVTQAP	GAQPLQIQPG	LLAQQAWPSG	TQQILLPPAW
730	740	750	760	770	780
QQLTGVATHT	SVQHATVIPE	TMAGTQQLAD	WRNTHAHGSH	YNPIMQQPAL	LTGHVTLPAA
790	800	810	820	830	840
QPLNVGVAHV	MRQQPTSTTS	SRKSKQHQSS	VRNVSTCEVS	SSQAISSPQR	SKRVKENTPP
850	860	870	880	890	900
RCAMVHSSPA	CSTSVTCGWG	DVASSTTRER	QRQTIVIPDT	PSPTVSVITI	SSDTDEEEEQ
910	920	930	940	950	960
KHAPTSTVSK	QRKNVISCVT	VHDSPYSDSS	SNTSPYSVQQ	RAGHNNANAF	DTKGSLENHC
970	980	990	1000	1010	1020
TGNPRTIIVP	PLKTQASEVL	VECDSLVPVN	TSHHSSSYKS	KSSSNVTSTS	GHSSGSSSGA
1030	1040	1050	1060	1070	1080
ITYRQQRPGP	HFQQQQPLNL	SQAQQHITTD	RTGSHRRQQA	YITPTMAQAP	YSFPHNSPSH
1090	1100	1110	1120	1130	1140
GTVHPHLAAA	AAAAHLPTQP	HLYTYTAPAA	LGSTGTVAHL	VASQGSARHT	VQHTAYPASI
1150	1160	1170	1180	1190
VHQVPVSMGP	RVLPSPTIHP	SQYPAQFAHQ	TYISASPAST	VYTGYPLSPA	KVNQYPYI