AiPD: Autoinhibited Protein Database

Q9UKY1

Gene name	ZHX1
Protein name	Zinc fingers and homeoboxes protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11244
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-85 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-85 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

5 structures for Q9UKY1

Entry ID	Method	Resolution	Chain	Position	Source
2ECB	NMR	-	A	565-640	PDB
2GHF	NMR	-	A	60-153	PDB
2LY9	NMR	-	A	462-532	PDB
3NAR	X-ray	260 A	A/B	655-731	PDB
AF-Q9UKY1-F1	Predicted				AlphaFoldDB

541 variants for Q9UKY1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777615439 CA4864915	5	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
TCGA novel	5	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4864913 rs752379171	8	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1169974550 CA372118814	9	T>I		No	ClinGen TOPMed gnomAD
CA4864912 rs200532502	9	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1241454911 CA372118803	10	P>S		No	ClinGen gnomAD
CA4864911 rs189340272	11	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA372118743 rs1444057883	12	M>I		No	ClinGen gnomAD
CA4864910 rs753435018	14	L>F		No	ClinGen ExAC gnomAD
rs369954197 CA4864909	15	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1563810184 CA372118666	16	S>G		No	ClinGen Ensembl
CA4864907 rs375364159	19	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763387925 CA4864906	22	L>F		No	ClinGen ExAC gnomAD
rs763387925 CA4864905	22	L>V		No	ClinGen ExAC gnomAD
rs770374909 CA4864903	23	E>D		No	ClinGen ExAC gnomAD
rs1341575535 CA372118475	24	L>F		No	ClinGen gnomAD
TCGA novel	24	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs937739346 CA184491151	25	I>T		No	ClinGen TOPMed gnomAD
rs765258778 CA4864901	26	S>P		No	ClinGen ExAC gnomAD
rs765258778 CA4864902	26	S>T		No	ClinGen ExAC gnomAD
TCGA novel	27	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4864900 rs770997426	31	G>R		No	ClinGen ExAC gnomAD
rs148312837 CA4864899	33	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1170030362 CA372118331	33	P>S		No	ClinGen TOPMed gnomAD
rs777987589 CA4864898	34	V>M		No	ClinGen ExAC TOPMed gnomAD
CA4864897 rs772134208	36	T>I		No	ClinGen ExAC gnomAD
rs772134208 CA372118292	36	T>R		No	ClinGen ExAC gnomAD
rs1418423541 CA372118283	37	P>R		No	ClinGen gnomAD
rs748002563 CA4864896	37	P>S		No	ClinGen ExAC gnomAD
rs1456342619 CA372118277	38	V>I		No	ClinGen TOPMed
CA372118262 rs1186996567	39	E>G		No	ClinGen gnomAD
CA4864895 rs778536893	41	T>A		No	ClinGen ExAC gnomAD
rs1205575188 COSM165724 CA372118229	42	R>T	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs577418662 CA184491130	45	S>G		No	ClinGen Ensembl
CA372118192 rs1437432471	45	S>N		No	ClinGen gnomAD
CA4864894 rs754988142	49	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4864893 rs200056989	49	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4864892 rs779775993	52	V>F		No	ClinGen ExAC gnomAD
rs755688731 CA4864891	53	H>R		No	ClinGen ExAC gnomAD
CA372118028 rs1231856350	53	H>Y		No	ClinGen gnomAD
rs749892729 CA372117979	55	S>C		No	ClinGen ExAC TOPMed gnomAD
rs749892729 CA4864890	55	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4864888 rs756829553	59	D>E		No	ClinGen ExAC gnomAD
CA4864887 rs142179845	60	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372117893 rs1406559572	61	Q>H		No	ClinGen gnomAD
CA4864886 rs765507040	63	N>D		No	ClinGen ExAC TOPMed gnomAD
CA4864885 rs760106115	63	N>K		No	ClinGen ExAC TOPMed gnomAD
CA4864884 rs777131344	66	V>A		No	ClinGen ExAC TOPMed gnomAD
CA184491041 rs1023818653	68	G>S		No	ClinGen Ensembl
TCGA novel	71	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200994423 CA184491032	73	K>Q		No	ClinGen 1000Genomes
CA372117679 rs1469840898	76	T>I		No	ClinGen gnomAD
rs372656760 CA4864882	76	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4864881 rs773123979	78	Q>H		No	ClinGen ExAC gnomAD
rs149599471 CA4864880	80	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1214946078 CA372117619	81	D>H		No	ClinGen TOPMed gnomAD
rs138403319 CA4864879	82	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA184490957 rs748203625	84	M>V		No	ClinGen TOPMed
rs1331796326 CA372117541	87	F>L		No	ClinGen gnomAD
rs1223525481 CA372117531	87	F>L		No	ClinGen gnomAD
CA372117535 rs1308216850	87	F>S		No	ClinGen gnomAD
CA372117491 rs1563810045	90	D>G		No	ClinGen Ensembl
rs533940290 CA4864876	90	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs780152230 CA4864875	91	S>L		No	ClinGen ExAC TOPMed gnomAD
rs755503928 CA184490927	95	N>S		No	ClinGen TOPMed gnomAD
rs755503928 CA184490923	95	N>T		No	ClinGen TOPMed gnomAD
rs763739765 CA4864869	101	S>C		No	ClinGen ExAC gnomAD
rs754978851 CA184490856	103	V>D		No	ClinGen Ensembl
TCGA novel	104	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4864867 rs376750048 COSM1095742	106	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs376750048 CA4864866	106	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs761137959 CA4864865	108	N>D		No	ClinGen ExAC gnomAD
rs773386697 CA4864864	108	N>S		No	ClinGen ExAC gnomAD
TCGA novel	113	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372116846 rs1586823608	118	S>C		No	ClinGen Ensembl
rs1215524745 CA372116743	124	Y>C		No	ClinGen gnomAD
CA4864861 rs185407278	126	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145829087 CA4864860 COSM1233470	129	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1563809964 CA372116576	135	M>I		No	ClinGen Ensembl
CA4864857 rs769904122	135	M>V		No	ClinGen ExAC gnomAD
CA184490781 rs375159712	138	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs532503720 CA4864856	138	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4864855 rs780822047	140	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1554635969 CA372116515	140	N>S		No	ClinGen Ensembl
CA372116507 rs1437557345	141	Q>K		No	ClinGen Ensembl
CA372116484 rs1429928152	142	T>I		No	ClinGen gnomAD
CA4864854 rs756726390	143	I>V		No	ClinGen ExAC TOPMed gnomAD
rs370578645 CA4864853	145	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1435621529 CA372116386	147	T>I		No	ClinGen gnomAD
rs758009235 CA4864851	148	I>M		No	ClinGen ExAC gnomAD
rs777428197 CA4864852	148	I>V		No	ClinGen ExAC gnomAD
TCGA novel	149	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	149	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372116257 rs1186505066	155	G>V		No	ClinGen gnomAD
CA372116248 rs1485161372	156	S>T		No	ClinGen gnomAD
CA184490715 rs780372539	158	V>F		No	ClinGen ExAC TOPMed gnomAD
rs780372539 CA4864849	158	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1361075964 CA372116196	159	K>E		No	ClinGen TOPMed gnomAD
CA184490710 rs866425206	162	N>D		No	ClinGen Ensembl
CA4864848 rs756666974	162	N>K		No	ClinGen ExAC gnomAD
CA372116117 rs1231462752	165	Q>E		No	ClinGen gnomAD
CA184490687 rs1050241621	169	T>I		No	ClinGen gnomAD
CA184490664 rs1050241621	169	T>K		No	ClinGen gnomAD
rs1403066120 CA372116046	171	V>I		No	ClinGen TOPMed gnomAD
CA184490650 rs915046477	173	S>Y		No	ClinGen Ensembl
CA4864846 rs35951597	174	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375935655 CA4864844	179	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs764440402 CA4864843	187	M>V		No	ClinGen ExAC gnomAD
CA4864841 rs775485491	189	N>Y		No	ClinGen ExAC gnomAD
CA4864839 rs527977408	191	V>M		No	ClinGen ExAC gnomAD
CA372115127 rs1409758371	193	N>D		No	ClinGen TOPMed
CA4864838 rs369013427	195	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs746535667 CA4864836	195	R>Q		No	ClinGen ExAC gnomAD
rs369013427 CA4864837	195	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4864834 rs144573933	196	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA184490553 rs200158721	200	H>R		No	ClinGen TOPMed gnomAD
CA4864833 rs747781614	201	N>H		No	ClinGen ExAC gnomAD
CA4864831 rs756439344	204	E>K		No	ClinGen ExAC gnomAD
CA4864827 rs201786424	206	V>D		No	ClinGen ExAC TOPMed gnomAD
rs367724677 COSM146122 CA4864828	206	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs367724677 CA4864829	206	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs764258193 CA4864826	208	E>G		No	ClinGen ExAC gnomAD
CA184490501 rs936881623	211	E>K		No	ClinGen TOPMed
CA372114154 rs1563809777	215	K>R		No	ClinGen Ensembl
rs375714181 CA4864825	216	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1233687467 CA372114139	216	P>T		No	ClinGen TOPMed gnomAD
CA4864824 rs752973316	217	D>H		No	ClinGen ExAC gnomAD
rs759275777 CA4864823	218	R>C	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4864822 rs759275777	218	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4864821 rs372444054	218	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA372114010 rs1397343995	221	I>T		No	ClinGen gnomAD
rs916809531 CA184490462	222	V>A		No	ClinGen Ensembl
rs1243191200 CA372114000	222	V>I		No	ClinGen gnomAD
CA4864820 rs368819786	224	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA372113932 rs760635874	226	S>I		No	ClinGen ExAC TOPMed gnomAD
CA4864819 rs760635874	226	S>N		No	ClinGen ExAC TOPMed gnomAD
CA184490413 rs952936160	227	S>F		No	ClinGen TOPMed gnomAD
CA372113915 rs952936160	227	S>Y		No	ClinGen TOPMed gnomAD
rs1450420484 CA372113898	229	A>T		No	ClinGen gnomAD
CA372113849 rs1292068773	231	E>D		No	ClinGen TOPMed gnomAD
CA372113858 rs1410642223	231	E>K		No	ClinGen TOPMed
CA372113805 rs1338986727	233	N>S		No	ClinGen TOPMed
CA372113778 rs1250740291	234	T>I		No	ClinGen gnomAD
CA184490402 rs1026223442	236	T>I		No	ClinGen Ensembl
rs374383567 CA4864818	237	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315398271 CA372113720	238	I>T		No	ClinGen TOPMed
CA372113731 rs1479339658	238	I>V		No	ClinGen gnomAD
rs1274494036 CA372113679	241	R>G		No	ClinGen gnomAD
rs1214319683 CA372113665	241	R>S		No	ClinGen gnomAD
rs771561714 CA4864817	243	H>R		No	ClinGen ExAC gnomAD
CA372113618 rs1364231140	244	P>R		No	ClinGen TOPMed
rs1563809690 CA372113602	245	S>N		No	ClinGen Ensembl
CA372113550 rs1233987276	247	A>P		No	ClinGen gnomAD
CA372113532 rs965804264	248	S>C		No	ClinGen TOPMed gnomAD
rs965804264 CA184490335	248	S>G		No	ClinGen TOPMed gnomAD
CA4864811 rs150942935	249	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs768305461 CA4864812	249	T>S		No	ClinGen ExAC gnomAD
rs1392863604 CA372113475	251	V>A		No	ClinGen gnomAD
rs1443716738 CA372113444	253	P>L		No	ClinGen TOPMed
CA4864807 rs778357930	255	A>V		No	ClinGen ExAC gnomAD
rs1203934017 CA372113420	256	V>F		No	ClinGen TOPMed
CA372113422 rs1203934017	256	V>I		No	ClinGen TOPMed
rs1244072417 CA372113369	261	A>T		No	ClinGen TOPMed
TCGA novel	262	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17854004 CA184490250	263	V>M		No	ClinGen Ensembl
rs765411034 CA4864804	264	I>V		No	ClinGen ExAC TOPMed gnomAD
CA372113276 rs1187191690	265	T>A		No	ClinGen TOPMed
CA372113248 rs1254378942	266	A>D		No	ClinGen gnomAD
CA372113245 COSM378826 rs1254378942	266	A>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs755198935 CA4864803	268	S>Y		No	ClinGen ExAC
CA372113199 rs1263663827	269	A>V		No	ClinGen Ensembl
CA4864801 rs753622216	270	Q>*		No	ClinGen ExAC
CA372113166 rs773135160	270	Q>H		No	ClinGen ExAC gnomAD
rs374360214 CA4864799	270	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs374360214 CA4864800	270	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA372113105 rs1271119322	273	S>C		No	ClinGen TOPMed gnomAD
CA372113100 rs1271119322	273	S>F		No	ClinGen TOPMed gnomAD
rs767384028 CA4864797	275	L>M		No	ClinGen ExAC gnomAD
CA4864796 rs761334367	277	P>S		No	ClinGen ExAC gnomAD
TCGA novel	280	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372112930 rs1237202784	282	P>S		No	ClinGen gnomAD
CA4864795 rs201841106	284	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748958786 COSM1095739 CA4864794	285	S>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs748958786 CA4864793	285	S>T		No	ClinGen ExAC gnomAD
rs1471055931 CA372112824	287	P>L		No	ClinGen TOPMed
CA372112832 rs1586823081	287	P>S		No	ClinGen Ensembl
rs776929418 CA4864792	288	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747321018 CA4864790	289	Y>*		No	ClinGen ExAC gnomAD
rs572569224 CA184490149	290	N>I		No	ClinGen 1000Genomes gnomAD
CA372112777 rs572569224	290	N>S		No	ClinGen 1000Genomes gnomAD
CA372112723 rs1384782114	293	L>S		No	ClinGen gnomAD
CA4864789 rs778449892	295	N>K		No	ClinGen ExAC gnomAD
CA4864788 rs758938232	296	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1434148274 CA372112590	297	P>L		No	ClinGen TOPMed gnomAD
TCGA novel rs1586823058 CA372112612	297	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs369629237 CA372112472	302	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369629237 CA4864787	302	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA372112420 rs1272529460	304	N>S		No	ClinGen TOPMed
CA4864784 rs755210044	309	P>R		No	ClinGen ExAC gnomAD
CA4864783 rs373785363	311	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1350367334 CA372112201	315	T>A		No	ClinGen gnomAD
CA372112193 rs1281227537	315	T>I		No	ClinGen gnomAD
CA4864782 rs766441550	318	S>C		No	ClinGen ExAC gnomAD
rs541736561 CA4864781	319	A>T		No	ClinGen ExAC gnomAD
rs1271998785 CA372112077	322	K>R		No	ClinGen gnomAD
rs1326335563 CA372111982	327	Q>E		No	ClinGen gnomAD
rs1264313339 CA372111853	335	Q>*		No	ClinGen TOPMed
rs76772843 CA184490080	339	H>Q		No	ClinGen Ensembl
rs1416936636 CA372111777	339	H>R		No	ClinGen TOPMed gnomAD
rs1375951927 CA372111752	340	G>S		No	ClinGen TOPMed
CA372111600 rs1172450823	345	P>T		No	ClinGen TOPMed gnomAD
rs761706584 CA4864778	346	E>K		No	ClinGen ExAC gnomAD
rs763656006 CA4864776	349	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
TCGA novel	352	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1257952942 CA372111335	357	N>K		No	ClinGen gnomAD
CA4864771 rs747411383	357	N>S		No	ClinGen ExAC TOPMed gnomAD
CA184490035 COSM1095737 rs200967178	358	G>E	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA4864770 rs773682397	359	T>I		No	ClinGen ExAC gnomAD
rs772759172 CA4864769	360	V>M		No	ClinGen ExAC TOPMed gnomAD
CA184490024 rs148858924	362	T>I		No	ClinGen ESP TOPMed
rs1275264993 CA372111277	363	V>I		No	ClinGen gnomAD
rs748649570 CA4864768	366	T>I		No	ClinGen ExAC gnomAD
CA4864767 rs778922946	367	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1321557684 CA372111179	370	I>T		No	ClinGen TOPMed
rs1478987378 CA372111149	372	T>A		No	ClinGen TOPMed gnomAD
rs1356576619 CA372111095	374	I>V		No	ClinGen gnomAD
CA4864764 rs780345342	376	T>A		No	ClinGen ExAC gnomAD
rs1413836574 CA372110989	378	S>C		No	ClinGen TOPMed gnomAD
CA184490003 rs947723490	378	S>N		No	ClinGen TOPMed gnomAD
rs916234491 CA184490000	379	N>Y		No	ClinGen Ensembl
CA372110835 rs1330348456	383	S>F		No	ClinGen gnomAD
CA4864762 rs750258115	384	I>V		No	ClinGen ExAC gnomAD
TCGA novel	387	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372110666 rs1191016239	393	Q>P		No	ClinGen gnomAD
rs1191016239 CA372110667	393	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA184489944 rs545103974	395	G>D		No	ClinGen 1000Genomes gnomAD
rs114129661 CA372110629	395	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4864758 rs114129661	395	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372110563 rs1214386837	399	T>I		No	ClinGen gnomAD
CA184489917 rs767123344	401	V>L		No	ClinGen ExAC gnomAD
rs767123344 CA4864755	401	V>M		No	ClinGen ExAC gnomAD
rs765024823 CA4864754	404	T>A		No	ClinGen ExAC gnomAD
rs1272966841 CA372110496	404	T>K		No	ClinGen gnomAD
rs759246041 CA4864753	405	N>K		No	ClinGen ExAC gnomAD
CA372110415 rs1251194744	407	L>S		No	ClinGen TOPMed
rs1457250241 CA372110354	410	T>A		No	ClinGen TOPMed
rs774933867 CA4864749	411	A>T		No	ClinGen ExAC gnomAD
CA372110318 rs768992606	413	I>L		No	ClinGen ExAC gnomAD
rs768992606 CA4864748	413	I>V		No	ClinGen ExAC gnomAD
CA372110279 rs1462994997	414	A>V		No	ClinGen gnomAD
CA372110263 rs1563809307	415	L>S		No	ClinGen Ensembl
rs892645215 CA184489835	416	T>A		No	ClinGen TOPMed gnomAD
CA4864747 rs144435068	417	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs746076691 CA4864743	420	V>G		No	ClinGen ExAC gnomAD
CA4864744 rs770050796	420	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4864742 rs781326525	421	P>S		No	ClinGen ExAC
CA372110131 rs1392722735	422	S>R		No	ClinGen TOPMed
rs751265965 CA4864740	424	N>S		No	ClinGen ExAC gnomAD
CA372110091 rs777798392	426	I>K		No	ClinGen ExAC TOPMed gnomAD
CA372110087 rs1252850806	426	I>M		No	ClinGen gnomAD
rs777798392 CA4864739	426	I>T		No	ClinGen ExAC TOPMed gnomAD
rs758241093 CA4864738	430	Q>K		No	ClinGen ExAC gnomAD
CA4864737 rs752303790	432	P>R		No	ClinGen ExAC gnomAD
rs200803962 CA4864736	434	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376788877 CA4864733	437	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs762258094 CA4864732	437	T>I		No	ClinGen ExAC TOPMed gnomAD
rs201550572 CA184489752	438	A>T		No	ClinGen 1000Genomes gnomAD
CA184489733 rs936881132	439	E>*		No	ClinGen Ensembl
CA184489709 rs972577819	439	E>G		No	ClinGen TOPMed gnomAD
rs774538058 CA4864731	441	K>Q		No	ClinGen ExAC gnomAD
CA4864730 rs147221349	442	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1462146790 CA372109957	445	A>T		No	ClinGen TOPMed gnomAD
rs763345856 CA4864729	446	A>V		No	ClinGen ExAC gnomAD
CA372109939 rs1400362764	448	P>A		No	ClinGen gnomAD
rs1185066303 CA372109937	448	P>Q		No	ClinGen TOPMed
rs1185066303 CA372109936	448	P>R		No	ClinGen TOPMed
rs368339951 CA4864728	449	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4864727 rs770028418	451	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	453	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745890032 CA4864726	453	V>I		No	ClinGen ExAC gnomAD
CA372109902 rs1190050469	454	K>E		No	ClinGen gnomAD
CA372109898 rs1243107380	454	K>N		No	ClinGen gnomAD
CA4864724 rs761184687	454	K>R		No	ClinGen ExAC gnomAD
CA4864723 rs192954126	455	H>D		No	ClinGen 1000Genomes ExAC gnomAD
CA4864722 rs777410482	455	H>R		No	ClinGen ExAC TOPMed gnomAD
CA184489596 rs1048052017	458	A>T		No	ClinGen Ensembl
rs748034215 CA4864720	460	V>G		No	ClinGen ExAC gnomAD
rs778924018 CA4864719	461	N>S		No	ClinGen ExAC gnomAD
CA4864717 rs753347078	462	P>A		No	ClinGen ExAC gnomAD
COSM286707 rs1399089654 CA372109811	468	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1315082569 CA372109779	473	K>E		No	ClinGen gnomAD
CA4864714 rs752002112	477	A>P		No	ClinGen ExAC TOPMed gnomAD
rs763584091 CA4864712	478	E>V		No	ClinGen ExAC gnomAD
TCGA novel	481	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194849846 CA372109715	482	S>C		No	ClinGen gnomAD
rs1186299674 CA372109683	486	N>S		No	ClinGen gnomAD
rs952669571 CA184489477	490	H>R		No	ClinGen TOPMed
rs765684086 CA4864710	491	D>G		No	ClinGen ExAC TOPMed gnomAD
CA372109638 rs1305830375	492	S>L		No	ClinGen TOPMed
CA4864709 rs374275355	494	I>V		No	ClinGen ESP ExAC gnomAD
CA4864708 rs776662832	495	I>N		No	ClinGen ExAC gnomAD
rs1206785997 CA372109578	498	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs370560217 CA4864707	500	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747187364 CA4864706	502	G>D		No	ClinGen ExAC gnomAD
CA372109514 rs139687816	504	T>K		No	ClinGen ESP ExAC gnomAD
CA4864704 rs139687816	504	T>M		No	ClinGen ESP ExAC gnomAD
rs1294871680 CA372109449	508	I>V		No	ClinGen gnomAD
TCGA novel	509	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563809035	510	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1429763324 CA372109278	515	T>S		No	ClinGen TOPMed
rs1170468596 CA372109168	519	Q>*		No	ClinGen TOPMed
rs1376583829 CA372109140	520	R>I		No	ClinGen TOPMed
rs985548645 CA184489289	524	S>N		No	ClinGen Ensembl
rs1463530965 CA372108987	527	C>W		No	ClinGen gnomAD
CA4864699 rs779686104	528	L>I		No	ClinGen ExAC gnomAD
CA4864698 rs755852551	529	H>N		No	ClinGen ExAC TOPMed
CA372108840 rs1170441844	532	N>S		No	ClinGen gnomAD
rs1464491114 CA372108809	533	D>V		No	ClinGen gnomAD
rs750039063 CA4864697	536	T>A		No	ClinGen ExAC gnomAD
rs1207738651 CA372108746	536	T>I		No	ClinGen TOPMed gnomAD
CA372108615 rs1475347321	537	T>I		No	ClinGen gnomAD
CA4864695 rs557557161	540	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA184489232 rs370469256	543	S>G		No	ClinGen ESP TOPMed gnomAD
rs753021928 CA4864694	543	S>N		No	ClinGen ExAC gnomAD
CA372108440 rs1320458356	544	D>G		No	ClinGen TOPMed
rs765774124 CA4864693	545	E>G		No	ClinGen ExAC gnomAD
CA4864692 rs760017808	547	T>K		No	ClinGen ExAC gnomAD
TCGA novel	548	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372108344 rs1274839066	548	E>G		No	ClinGen gnomAD
rs150624227 CA4864690	550	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	550	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4864688 rs773316677	551	T>A		No	ClinGen ExAC gnomAD
CA372108262 rs1296337691	551	T>N		No	ClinGen TOPMed
rs773316677 CA372108265	551	T>P		No	ClinGen ExAC gnomAD
CA372108231 rs1393355514	553	G>S		No	ClinGen gnomAD
CA372108217 rs1446238429	553	G>V		No	ClinGen gnomAD
rs141881595 CA4864687	559	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA372108049 rs1330734543	560	S>T		No	ClinGen gnomAD
rs1001039128 CA184489142	566	D>V		No	ClinGen TOPMed
CA372107735 rs1379007108	569	P>H		No	ClinGen gnomAD
rs1461601482 CA372107720	570	Q>L		No	ClinGen TOPMed
CA4864684 rs768760434	576	T>I		No	ClinGen ExAC gnomAD
CA4864683 rs749222801	577	A>T		No	ClinGen ExAC gnomAD
CA372107468 rs1250680516	579	Q>E		No	ClinGen gnomAD
CA4864682 COSM2155560 rs138343253	581	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1456411514 CA372107416	581	R>H		No	ClinGen gnomAD
rs1586822251 CA372105646	586	S>G		No	ClinGen Ensembl
rs769191143 CA4864681	589	N>Y		No	ClinGen ExAC gnomAD
TCGA novel	590	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1031358156 CA184489124	592	V>A		No	ClinGen TOPMed
CA372105519 rs1241507829	592	V>I		No	ClinGen gnomAD
rs780739650 CA4864679	593	L>R		No	ClinGen ExAC TOPMed gnomAD
CA372105477 rs1308657566	594	T>K		No	ClinGen TOPMed gnomAD
TCGA novel	595	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372105437 rs1423824764	596	E>K		No	ClinGen TOPMed
TCGA novel	597	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184489102 rs999435573	597	E>V		No	ClinGen Ensembl
CA372105367 rs1444565883	599	N>S		No	ClinGen gnomAD
CA4864678 rs753111689	600	R>K		No	ClinGen ExAC gnomAD
CA4864677 rs753111689	600	R>T		No	ClinGen ExAC gnomAD
rs1327228140 CA372105284	602	R>S		No	ClinGen gnomAD
CA372105270 rs1386705325	603	A>T		No	ClinGen gnomAD
CA184489088 rs59843972	603	A>V		No	ClinGen Ensembl
TCGA novel	606	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4864676 rs779237885	606	K>R		No	ClinGen ExAC gnomAD
rs755548464 CA4864675	608	T>S		No	ClinGen ExAC gnomAD
CA4864674 rs754351377	609	R>G		No	ClinGen ExAC TOPMed gnomAD
CA372105109 rs1157533362	609	R>K		No	ClinGen gnomAD
CA372105068 rs1437217290	612	I>V		No	ClinGen gnomAD
rs1012005221 CA184489075	613	D>N		No	ClinGen TOPMed gnomAD
CA372105012 rs1343834706	614	A>V		No	ClinGen TOPMed
rs767669976 CA4864670	615	W>*		No	ClinGen ExAC gnomAD
CA4864671 rs750472738	615	W>S		No	ClinGen ExAC gnomAD
CA4864668 rs530080011	617	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762770128 CA4864666	619	K>E		No	ClinGen ExAC gnomAD
rs762770128 CA372104927	619	K>Q		No	ClinGen ExAC gnomAD
rs1366959819 CA372104921	619	K>R		No	ClinGen TOPMed
CA184489016 rs1037725309	621	K>E		No	ClinGen Ensembl
rs944300852 CA184489003	621	K>I		No	ClinGen TOPMed
CA372104823 rs1383064305	625	L>S		No	ClinGen gnomAD
rs940806601 CA184488986	628	E>K		No	ClinGen TOPMed
TCGA novel	628	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374123668 CA372104745	630	M>R		No	ClinGen ESP ExAC gnomAD
rs374123668 CA4864663	630	M>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	631	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184488956 rs1049852109	631	E>K		No	ClinGen Ensembl
rs745412395 CA4864662	632	I>M		No	ClinGen ExAC gnomAD
rs1324469244 CA372104719	632	I>V		No	ClinGen TOPMed
CA372104694 rs1417446625	633	D>N		No	ClinGen gnomAD
CA372104672 rs1253907820	634	E>*		No	ClinGen Ensembl
rs142156546 CA372104649	635	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4864661 rs142156546	635	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA372104641 rs567568377	636	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746663941 CA4864659	636	N>S		No	ClinGen ExAC gnomAD
rs567568377 CA4864660	636	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4864658 rs777344022	637	A>P		No	ClinGen ExAC TOPMed gnomAD
CA184488915 rs932753686	637	A>V		No	ClinGen Ensembl
CA4864657 rs755354406	638	G>D		No	ClinGen ExAC gnomAD
CA4864656 rs754149126	640	S>F		No	ClinGen ExAC gnomAD
CA4864655 rs780453437	642	E>A		No	ClinGen ExAC gnomAD
CA4864654 rs774111132	644	A>S		No	ClinGen ExAC TOPMed gnomAD
CA184488882 rs774111132	644	A>T		No	ClinGen ExAC TOPMed gnomAD
CA372104373 rs1200884968	649	P>S		No	ClinGen TOPMed
TCGA novel	650	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA184488832 rs914636574	651	D>G		No	ClinGen TOPMed gnomAD
CA372104326 rs1228778296	651	D>N		No	ClinGen gnomAD
CA4864650 rs750514614	655	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4864649 rs138992353	655	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs762192099 CA4864648	656	P>R		No	ClinGen ExAC TOPMed gnomAD
CA184488816 rs980672094	657	K>*		No	ClinGen TOPMed gnomAD
CA372104203 rs980672094	657	K>E		No	ClinGen TOPMed gnomAD
CA372104201 rs1310108542	657	K>R		No	ClinGen gnomAD
CA372104187 rs1413346175	658	S>A		No	ClinGen gnomAD
rs143390709 CA4864647	659	G>E		No	ClinGen ESP ExAC
rs764354163 CA4864646	663	K>E		No	ClinGen ExAC gnomAD
rs369760371 CA4864644	664	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1422721247 CA372103960	668	T>I		No	ClinGen gnomAD
CA4864643 rs765138111	669	P>S		No	ClinGen ExAC gnomAD
CA4864642 rs759506087	674	M>L		No	ClinGen ExAC TOPMed gnomAD
rs759506087 CA372103837	674	M>V		No	ClinGen ExAC TOPMed gnomAD
rs776073776 CA4864641	677	S>N		No	ClinGen ExAC gnomAD
CA372103754 rs1399792171	677	S>R		No	ClinGen TOPMed gnomAD
CA372103614 rs1375246942	681	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs770435282 CA4864640	681	R>W		No	ClinGen ExAC gnomAD
rs763856910 CA184488743	683	Q>H		No	ClinGen TOPMed
rs746467900 CA4864639	684	W>R		No	ClinGen ExAC gnomAD
rs1317791634 CA372103319	690	Y>C		No	ClinGen gnomAD
rs1235450384 CA372103301	691	D>G		No	ClinGen gnomAD
rs1284480369 CA372103192	695	K>R		No	ClinGen gnomAD
rs780441689 CA4864635	698	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4864633 rs199937711	702	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs756635705 CA4864634	702	T>P		No	ClinGen ExAC gnomAD
CA372103044 rs1291807780	703	D>A		No	ClinGen TOPMed
TCGA novel	703	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482470201	706	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	710	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4864630 rs751649497	712	R>C		No	ClinGen ExAC gnomAD
CA4864627 rs752495337	723	Y>C		No	ClinGen ExAC gnomAD
rs1179289648 CA372102635	723	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs956537213 CA184488651	724	Y>C		No	ClinGen TOPMed
CA4864626 rs757146815	725	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA372102611 rs1586821824	726	Y>C		No	ClinGen Ensembl
rs1197485110 CA372102599	728	S>R		No	ClinGen Ensembl
rs200418101 CA4864623	729	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753655694 CA372102572	732	S>G		No	ClinGen TOPMed gnomAD
CA184488626 rs753655694	732	S>R		No	ClinGen TOPMed gnomAD
rs766259407 CA4864622	733	S>G		No	ClinGen ExAC gnomAD
CA372102554 rs1586821796	734	M>T		No	ClinGen Ensembl
rs760205823 CA4864621	738	S>P		No	ClinGen ExAC gnomAD
CA372102517 rs1329297106	740	L>F		No	ClinGen gnomAD
CA4864620 rs772674424	741	R>T		No	ClinGen ExAC TOPMed gnomAD
rs771757750 CA4864619	743	R>S		No	ClinGen ExAC gnomAD
CA4864618 rs747820185	744	G>E		No	ClinGen ExAC gnomAD
CA372102492 rs1563808486	744	G>R		No	ClinGen Ensembl
CA372102446 rs1487226100	747	R>I		No	ClinGen gnomAD
CA184488601 rs770197354	751	R>P		No	ClinGen ExAC TOPMed gnomAD
rs770197354 CA4864615	751	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4864616 rs775783361	751	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746160266 CA4864614	753	R>K		No	ClinGen ExAC TOPMed gnomAD
CA4864613 rs781770196	756	P>L		No	ClinGen ExAC gnomAD
rs747135351 CA4864611 COSM1095731	757	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs777988701 CA4864610	757	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs887744341 CA184488576	758	G>A		No	ClinGen TOPMed
rs1449523424 CA372102311	759	R>Q		No	ClinGen gnomAD
CA184488573 COSM1095730 rs137887004	759	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA gnomAD
rs765322229 CA4864607	761	R>G		No	ClinGen ExAC gnomAD
rs777663399 CA372102289	761	R>K		No	ClinGen TOPMed gnomAD
CA184488557 rs777663399	761	R>T		No	ClinGen TOPMed gnomAD
CA4864606 rs150304141	763	S>C		No	ClinGen ESP ExAC TOPMed
rs755856015 CA4864605	764	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA372102238 rs1460301892	765	R>K		No	ClinGen TOPMed
rs766339290 CA4864604	765	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1274031728 CA372102150	771	R>K		No	ClinGen TOPMed gnomAD
rs1475380535 CA372102140	772	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs749989829 CA4864602	773	P>L		No	ClinGen ExAC gnomAD
CA4864600 rs761159679	775	L>V		No	ClinGen ExAC gnomAD
CA4864598 rs768144433	777	K>N		No	ClinGen ExAC gnomAD
TCGA novel	780	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	783	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1054980060 CA184488457	784	I>T		No	ClinGen Ensembl
rs759985746 CA4864597	784	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1434286456 COSM1132855 CA372101934	787	D>G	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA372101919 rs1563808385	788	Y>C		No	ClinGen Ensembl
rs777114142 CA4864596	789	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	790	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403594071 CA372101897	790	L>M		No	ClinGen TOPMed
CA372101883 rs1338952309	791	K>R		No	ClinGen TOPMed gnomAD
rs17854005 CA184488445	792	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1189858760 CA372101857	793	K>R		No	ClinGen gnomAD
rs771624511 CA4864595	796	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1383215461 CA372101806	797	E>K		No	ClinGen gnomAD
CA372101791 rs1216938276	798	Q>E		No	ClinGen gnomAD
rs778359984 CA4864593	800	L>P		No	ClinGen ExAC gnomAD
rs772210263 CA4864592	806	K>I		No	ClinGen ExAC gnomAD
rs1277902604 CA372101619	808	H>R		No	ClinGen TOPMed gnomAD
rs748131999 CA4864590	809	M>L		No	ClinGen ExAC TOPMed gnomAD
rs748131999 CA372101606	809	M>V		No	ClinGen ExAC TOPMed gnomAD
CA372101511 rs1291805935	812	E>G		No	ClinGen gnomAD
rs755120087 CA4864588	814	V>I		No	ClinGen ExAC gnomAD
rs1460246373 CA372101466	816	E>Q		No	ClinGen TOPMed
rs1399650946 CA372101364	821	R>I		No	ClinGen gnomAD
CA184488360 rs917815662	822	Q>H		No	ClinGen Ensembl
rs1466567279 CA372101313	825	S>*		No	ClinGen gnomAD
rs753678182 CA4864587	825	S>P		No	ClinGen ExAC TOPMed gnomAD
CA372101274 rs1463134569	827	L>F		No	ClinGen gnomAD
TCGA novel	827	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4864586 rs779814219	830	E>K		No	ClinGen ExAC TOPMed gnomAD
rs988432609 CA184488347	834	E>G		No	ClinGen TOPMed
rs1424851573 CA372101105	835	N>K		No	ClinGen gnomAD
rs372360773 CA4864585	835	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4864584 rs750366460	836	E>K		No	ClinGen ExAC gnomAD
CA372101054 rs1183223912	838	E>A		No	ClinGen gnomAD
rs761408638 CA4864582	839	D>N		No	ClinGen ExAC gnomAD
rs1236348384 CA372101013	840	E>*		No	ClinGen gnomAD
CA184488329 rs775023918	842	I>M		No	ClinGen Ensembl
CA4864581 rs750993826	842	I>T		No	ClinGen ExAC TOPMed gnomAD
COSM130333 rs953096730 CA184488327	843	D>N	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1258499317 CA372100927	844	D>V		No	ClinGen TOPMed gnomAD
CA372100915 rs1563808256	845	Q>E		No	ClinGen Ensembl
CA4864580 rs763855358	845	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4864579 rs762498515	847	E>D		No	ClinGen ExAC gnomAD
rs1316314209 CA372100882	847	E>K		No	ClinGen TOPMed gnomAD
CA4864578 rs767017753	848	D>E		No	ClinGen ExAC TOPMed gnomAD
rs375235916 CA4864577	849	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4864576 rs761060097	850	E>G		No	ClinGen ExAC gnomAD
rs573544945 CA4864575	851	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4864573 rs1554635650	852	T>A		No	ClinGen Ensembl
rs142746860 CA4864572	857	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372100599 rs1170424729	858	W>*		No	ClinGen gnomAD
TCGA novel	860	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372100498 rs748294823	862	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs144367640 CA4864570	862	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745749076 CA372100392	866	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4864567 rs780185709	866	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4864568 rs745749076	866	R>W		No	ClinGen ExAC TOPMed gnomAD
rs750170249 CA4864565	872	D>E		No	ClinGen ExAC TOPMed gnomAD
rs755918638 CA4864566	872	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1266956475 CA372100247	873	D>G		No	ClinGen gnomAD
CA4864564 rs781221058	873	D>N		No	ClinGen ExAC TOPMed gnomAD
CA184488275 rs112845592	874	D>R		No	ClinGen Ensembl

No associated diseases with Q9UKY1

9 regional properties for Q9UKY1

Type	Name	Position	InterPro Accession
domain	Homeobox domain	284 - 346	IPR001356-1
domain	Homeobox domain	464 - 526	IPR001356-2
domain	Homeobox domain	569 - 630	IPR001356-3
domain	Homeobox domain	660 - 722	IPR001356-4
domain	Homeobox domain	777 - 832	IPR001356-5
domain	Zinc finger C2H2-type	70 - 93	IPR013087-1
domain	Zinc finger C2H2-type	102 - 130	IPR013087-2
domain	Homez, homeobox domain	785 - 822	IPR024578
domain	ZHX, C2H2 finger domain	99 - 149	IPR041057

Functions

		Description
EC Number
Subcellular Localization	Nucleus	Colocalized in the nucleus with DNMT3B
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.

5 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding	Binding to a metal ion.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.

4 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
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.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y6X8	ZHX2	Zinc fingers and homeoboxes protein 2	Homo sapiens (Human)	PR

10	20	30	40	50	60
MASRRKSTTP	CMVLASEQDP	DLELISDLDE	GPPVLTPVEN	TRAESISSDE	EVHESVDSDN
70	80	90	100	110	120
QQNKKVEGGY	ECKYCTFQTP	DLNMFTFHVD	SEHPNVVLNS	SYVCVECNFL	TKRYDALSEH
130	140	150	160	170	180
NLKYHPGEEN	FKLTMVKRNN	QTIFEQTIND	LTFDGSFVKE	ENAEQAESTE	VSSSGISISK
190	200	210	220	230	240
TPIMKMMKNK	VENKRIAVHH	NSVEDVPEEK	ENEIKPDREE	IVENPSSSAS	ESNTSTSIVN
250	260	270	280	290	300
RIHPSTASTV	VTPAAVLPGL	AQVITAVSAQ	QNSNLIPKVL	IPVNSIPTYN	AALDNNPLLL
310	320	330	340	350	360
NTYNKFPYPT	MSEITVLSAQ	AKYTEEQIKI	WFSAQRLKHG	VSWTPEEVEE	ARRKQFNGTV
370	380	390	400	410	420
HTVPQTITVI	PTHISTGSNG	LPSILQTCQI	VGQPGLVLTQ	VAGTNTLPVT	APIALTVAGV
430	440	450	460	470	480
PSQNNIQKSQ	VPAAQPTAET	KPATAAVPTS	QSVKHETALV	NPDSFGIRAK	KTKEQLAELK
490	500	510	520	530	540
VSYLKNQFPH	DSEIIRLMKI	TGLTKGEIKK	WFSDTRYNQR	NSKSNQCLHL	NNDSSTTIII
550	560	570	580	590	600
DSSDETTESP	TVGTAQPKQS	WNPFPDFTPQ	KFKEKTAEQL	RVLQASFLNS	SVLTDEELNR
610	620	630	640	650	660
LRAQTKLTRR	EIDAWFTEKK	KSKALKEEKM	EIDESNAGSS	KEEAGETSPA	DESGAPKSGS
670	680	690	700	710	720
TGKICKKTPE	QLHMLKSAFV	RTQWPSPEEY	DKLAKESGLA	RTDIVSWFGD	TRYAWKNGNL
730	740	750	760	770	780
KWYYYYQSAN	SSSMNGLSSL	RKRGRGRPKG	RGRGRPRGRP	RGSKRINNWD	RGPSLIKFKT
790	800	810	820	830	840
GTAILKDYYL	KHKFLNEQDL	DELVNKSHMG	YEQVREWFAE	RQRRSELGIE	LFEENEEEDE
850	860	870
VIDDQEEDEE	ETDDSDTWEP	PRHVKRKLSK	SDD