AiPD: Autoinhibited Protein Database

Q9H808

Gene name	TLE6
Protein name	Transducin-like enhancer protein 6
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79816
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-63 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-63 (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

1 structures for Q9H808

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H808-F1	Predicted				AlphaFoldDB

563 variants for Q9H808

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_084162	74	Q>H	PREMBL1; unknown pathological significance [UniProt]	Yes	UniProt
CA9072608 VAR_084163 rs769137034	130	D>N	PREMBL1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_084164	240	A>G	PREMBL1; unknown pathological significance [UniProt]	Yes	UniProt
rs752098612 RCV001250897	269	K>missing	Preimplantation embryonic lethality 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_084165	298	T>R	PREMBL1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084166 CA9072936 rs763793074	338	R>H	PREMBL1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs776453307 RCV000519403	378	A>missing	Preimplantation embryonic lethality 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_084167 rs1310808966 CA403287335	409	R>Q	PREMBL1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
VAR_084168	446	W>del	PREMBL1; unknown pathological significance [UniProt]	Yes	UniProt
VAR_084169 rs551247575 CA9073121	503	V>I	PREMBL1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs767222404 VAR_076246 RCV000207476 CA212268	510	S>Y	Preimplantation embryonic lethality 1 PREMBL1; almost complete loss of phosphorylation and reduced interaction with KHDC3L and OOEP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_084170	522	D>H	PREMBL1; unknown pathological significance [UniProt]	Yes	UniProt
CA403292173 VAR_084171 rs1176718387	541	E>K	PREMBL1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
rs1368101249 CA403276850	2	T>I		No	ClinGen TOPMed gnomAD
rs1324741854 CA403276859	4	R>K		No	ClinGen gnomAD
rs190951421 CA9072522	6	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403276872 rs1331004920	6	Q>K		No	ClinGen gnomAD
CA304290024 rs935925792	6	Q>R		No	ClinGen TOPMed gnomAD
CA304290028 rs903343609	9	P>S		No	ClinGen Ensembl
CA403276941 rs1272586283	11	G>D		No	ClinGen gnomAD
CA304290029 rs999135701	12	P>T		No	ClinGen TOPMed
rs573404555 CA9072523	13	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403276961 rs573404555	13	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573404555 CA403276963	13	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1284056624 CA403276957	13	P>S		No	ClinGen TOPMed
rs1285703478 CA403276979	14	K>N		No	ClinGen TOPMed
rs1040845559 CA304290037 COSM3692269	17	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1040845559 CA403277015	17	S>W		No	ClinGen TOPMed gnomAD
CA403277328 rs1396753422	18	P>A		No	ClinGen TOPMed gnomAD
CA403277346 rs1462039985	20	P>L		No	ClinGen TOPMed
TCGA novel	20	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304290844 rs1017221540	21	G>V		No	ClinGen TOPMed
CA304290848 rs371786525	23	S>L		No	ClinGen ESP TOPMed gnomAD
rs1329753937 CA403277368	24	N>S		No	ClinGen gnomAD
rs1258738879 CA403277395	28	S>P		No	ClinGen gnomAD
CA403277401 rs1278976990	29	P>A		No	ClinGen TOPMed gnomAD
CA403277405 rs1484029628	29	P>L		No	ClinGen TOPMed gnomAD
rs1484029628 CA403277403	29	P>Q		No	ClinGen TOPMed gnomAD
rs751941659 CA9072532	30	T>K		No	ClinGen ExAC gnomAD
CA403277410 rs751941659	30	T>M		No	ClinGen ExAC gnomAD
CA403277414 rs1183672200	31	L>P		No	ClinGen TOPMed gnomAD
rs1413406708 CA403277423	32	N>K		No	ClinGen gnomAD
CA403277432 rs1472543344	34	Q>*		No	ClinGen gnomAD
COSM1564527 rs1157405651 CA403277435	34	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA304290859 rs916934852	35	G>S		No	ClinGen TOPMed gnomAD
rs1466765456 CA403277446	36	I>V		No	ClinGen gnomAD
rs929618970 CA304290864	39	R>Q		No	ClinGen TOPMed gnomAD
CA304290861 rs747375518	39	R>W		No	ClinGen TOPMed gnomAD
CA9072533 rs560902219	40	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1351097883 CA403277488 CA403277487	42	Q>H		No	ClinGen gnomAD
CA403277495 rs1227645395	43	F>L		No	ClinGen gnomAD
rs1304620897 CA403277507	45	R>M		No	ClinGen TOPMed gnomAD
CA304291342 rs1038239155	46	F>V		No	ClinGen Ensembl
rs886927786 CA304291346	48	P>S		No	ClinGen TOPMed
CA9072549 rs566584383	51	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403277912 rs566584383	51	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1392313 rs527349785 CA9072551	52	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA304291356 rs570392892	55	E>G		No	ClinGen 1000Genomes
rs753050517 CA9072553	56	S>G		No	ClinGen ExAC gnomAD
rs1444519646 CA403277955	57	I>V		No	ClinGen gnomAD
rs932608404 CA304291358	58	Y>C		No	ClinGen TOPMed gnomAD
CA9072554 rs537444090	60	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA304291361 rs537444090	60	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9072560 rs375705892	62	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403278010 rs963416130	63	K>N		No	ClinGen TOPMed
CA304291564 rs1009150441	65	Q>*		No	ClinGen TOPMed gnomAD
rs1212439686 CA403278081	73	K>R		No	ClinGen gnomAD
CA403278089 rs1238154405	74	Q>R		No	ClinGen gnomAD
CA403278653 rs1448902021	75	I>K		No	ClinGen TOPMed
rs1448902021 CA403278654	75	I>T		No	ClinGen TOPMed
rs189020544 CA9072571	76	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181851708 CA9072573 CA403278668	77	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA304293838 rs1028406004	78	V>I		No	ClinGen TOPMed gnomAD
rs1371805990 CA403278683	79	L>S		No	ClinGen gnomAD
CA403278694 rs1440065409	80	Q>*		No	ClinGen TOPMed gnomAD
CA9072574 rs373099397	81	I>T		No	ClinGen ESP ExAC gnomAD
rs1297985555 CA403278728	82	V>G		No	ClinGen TOPMed
rs1372866082 CA403278779	86	S>C		No	ClinGen gnomAD
rs1428438043 CA403278797	87	Q>*		No	ClinGen gnomAD
rs1269398025 CA403278822	89	Q>K		No	ClinGen TOPMed gnomAD
rs1355988174 CA403278871	92	Q>P		No	ClinGen Ensembl
CA304293844 rs952445108	93	S>P		No	ClinGen TOPMed gnomAD
CA9072575 rs762482172	95	E>D		No	ClinGen ExAC TOPMed
CA403278915 rs1275804796	95	E>K		No	ClinGen gnomAD
CA403278977 rs1366181019	96	V>A		No	ClinGen gnomAD
TCGA novel	97	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249687277 CA403279002	98	P>T		No	ClinGen gnomAD
TCGA novel	99	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403279040 rs1337375050	100	E>D		No	ClinGen gnomAD
rs779265808 CA9072586	101	P>S		No	ClinGen ExAC TOPMed gnomAD
rs746086010 CA403279068	102	A>D		No	ClinGen ExAC TOPMed gnomAD
rs746086010 CA9072587	102	A>G		No	ClinGen ExAC TOPMed gnomAD
rs746086010 CA304293928	102	A>V		No	ClinGen ExAC TOPMed gnomAD
rs772084741 CA9072588	103	S>C		No	ClinGen ExAC TOPMed gnomAD
CA9072590 rs369167598	106	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA403279181 rs1462169965	111	K>E		No	ClinGen Ensembl
CA9072592 rs776837519	115	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765942359 CA304293948 CA9072594	117	E>D		No	ClinGen ExAC TOPMed gnomAD
rs762295089 CA9072593	117	E>K		No	ClinGen ExAC gnomAD
CA9072596 rs759272620	118	S>L		No	ClinGen ExAC TOPMed gnomAD
CA403279276 rs759272620	118	S>W		No	ClinGen ExAC TOPMed gnomAD
CA403279295 rs544431920	119	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9072599 RCV000911590 rs151302669	120	F>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9072600 rs764188950	122	D>V		No	ClinGen ExAC gnomAD
CA304293979 rs932547036	123	I>N		No	ClinGen TOPMed gnomAD
CA9072602 rs757012552	123	I>V		No	ClinGen ExAC gnomAD
rs1246942216 CA403279354	124	M>T		No	ClinGen gnomAD
rs778589545 CA9072603	124	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1353330112 CA403279373	126	T>A		No	ClinGen TOPMed
CA9072604 rs376099775	127	R>K		No	ClinGen ESP ExAC
CA403279400 rs1417244151	128	S>C		No	ClinGen gnomAD
rs1049500067 CA304293987	128	S>P		No	ClinGen TOPMed
CA304294012 rs371606064	129	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs371606064 CA9072606	129	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs373921962 CA403279463	133	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs373921962 CA9072611	133	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9072610 rs548008497	133	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1229354 COSM1229355 CA9072613 rs112012418	134	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs199812275 CA9072612	134	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9072615 rs759221475	135	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759221475 CA9072614	135	P>R		No	ClinGen ExAC TOPMed gnomAD
CA9072617 rs368460177	136	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs141333572 CA9072621	137	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151119762 CA9072619 CA9072620	137	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9072618 rs151119762	137	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs749984134 CA304294083	138	E>A		No	ClinGen gnomAD
rs1396734518 CA403279509	138	E>K		No	ClinGen gnomAD
rs1231316953 CA403279546	140	N>K		No	ClinGen gnomAD
CA9072622 rs750259777	140	N>S		No	ClinGen ExAC TOPMed gnomAD
CA304294093 rs936803738	141	Q>*		No	ClinGen Ensembl
CA9072624 rs780311488	142	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	143	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403279571 rs1258634465	144	T>A		No	ClinGen TOPMed gnomAD
CA9072627 rs781144250	144	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9072628 rs748636222	145	Q>*		No	ClinGen ExAC gnomAD
CA403279633 rs1484986784	149	D>H		No	ClinGen gnomAD
CA9072629 rs770231602	150	K>N		No	ClinGen ExAC TOPMed gnomAD
rs778165067 CA9072630	151	E>D		No	ClinGen ExAC gnomAD
rs771850990 CA403279676	152	P>A		No	ClinGen ExAC gnomAD
CA9072633 rs775221132	152	P>L		No	ClinGen ExAC gnomAD
rs771850990 CA9072632	152	P>T		No	ClinGen ExAC gnomAD
rs760419747 CA9072634	153	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs370995312 CA9072636	156	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs765136258 CA9072638	157	D>G		No	ClinGen ExAC TOPMed gnomAD
rs779498962 CA9072637	157	D>N		No	ClinGen ExAC TOPMed gnomAD
rs779498962 CA403279756	157	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1025421548 CA304294136	158	T>A		No	ClinGen Ensembl
rs868489229 CA304294139	160	T>I		No	ClinGen Ensembl
CA9072640 rs762801651	161	E>G		No	ClinGen ExAC gnomAD
rs906514054 CA304294142	161	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs906514054 CA403279802	161	E>Q		No	ClinGen TOPMed gnomAD
rs1315786159 CA403279828	162	Q>H		No	ClinGen TOPMed
TCGA novel	162	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403279857 rs1354247367	164	W>C		No	ClinGen gnomAD
rs766166831 CA304294162	165	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1229353 CA9072642 COSM1229352 rs751721273	165	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA403279863 rs766166831	165	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1345068577 CA403279882	166	I>M		No	ClinGen gnomAD
CA403279878 rs1279021907	166	I>T		No	ClinGen gnomAD
CA9072644 rs767591378	169	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9072648 rs375620029	170	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs375620029 CA9072647	170	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9072650 rs749821030	172	D>N		No	ClinGen ExAC TOPMed gnomAD
CA403280027 rs1383322482	173	E>G		No	ClinGen TOPMed
CA9072652 rs779444424	176	K>T		No	ClinGen ExAC gnomAD
rs954121474 CA304294201	177	P>S		No	ClinGen Ensembl
rs1428922291 CA403280096	178	R>K		No	ClinGen TOPMed
rs746623996 CA403280106	178	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1169283400 CA403280119	179	D>E		No	ClinGen gnomAD
rs201776641 CA9072654	181	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1415331131 CA403281001	182	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	183	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	184	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304297803 rs889621175	187	G>R		No	ClinGen Ensembl
rs1346809393 CA403281048	188	Q>*		No	ClinGen TOPMed
rs753339304 CA9072720	188	Q>R		No	ClinGen ExAC gnomAD
CA9072721 rs756687106	192	A>P		No	ClinGen ExAC gnomAD
rs559093244 CA9072722	192	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403281082 rs1182261632	193	P>A		No	ClinGen gnomAD
CA403281083 rs1182261632	193	P>S		No	ClinGen gnomAD
rs377122023 CA304297819	196	C>*		No	ClinGen ESP
rs772091672 CA9072724	198	P>S		No	ClinGen ExAC gnomAD
CA9072725 rs201132874	199	G>R		No	ClinGen ExAC TOPMed gnomAD
rs926993464 CA304297828	202	P>S		No	ClinGen TOPMed
CA403281194 rs1410956466	203	C>R		No	ClinGen TOPMed gnomAD
rs1410956466 CA403281189	203	C>S		No	ClinGen TOPMed gnomAD
CA9072728 rs150334730	207	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403281329 rs768995360	207	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9072727 rs768995360	207	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9072729 rs150334730	207	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA304297838 rs553277183	208	S>F		No	ClinGen Ensembl
CA403281555 rs1599162057	210	P>L		No	ClinGen Ensembl
CA9072759 rs45508491	210	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403281570 rs1191829385	211	R>T		No	ClinGen gnomAD
rs944775041 CA304297923	212	P>L		No	ClinGen Ensembl
rs149458627 CA9072760	212	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs149458627 CA304297921	212	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1476433145 CA403281663	215	A>S		No	ClinGen gnomAD
rs751495408 CA9072761	215	A>V		No	ClinGen ExAC gnomAD
CA9072762 rs563813436	216	S>F		No	ClinGen 1000Genomes ExAC
CA9072763 rs375278479	217	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183988210 CA403281685	217	S>T		No	ClinGen TOPMed
rs748004033 CA9072764	218	S>I		No	ClinGen ExAC gnomAD
rs778120083 CA9072766	219	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9072765 rs756273765	219	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9072767 rs144099702	220	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA403281774 rs1338343474	222	G>S		No	ClinGen gnomAD
rs770982104 CA9072769	225	D>A		No	ClinGen ExAC TOPMed gnomAD
CA403281855 rs1352166533	226	R>K		No	ClinGen TOPMed
TCGA novel	231	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403281969 rs1242308954	231	G>V		No	ClinGen gnomAD
CA9072771 rs369419085	232	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350939392 CA403281991	233	V>I		No	ClinGen TOPMed gnomAD
CA403281995 rs1350939392	233	V>L		No	ClinGen TOPMed gnomAD
CA403282158 rs1301843216	237	P>L		No	ClinGen Ensembl
rs1310974336 CA403282160	238	G>R		No	ClinGen gnomAD
rs1207186540 CA403282199	240	A>V		No	ClinGen gnomAD
CA403282226 rs752620549	242	R>G		No	ClinGen ExAC TOPMed gnomAD
CA403282237 rs760548952	242	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9072801 rs760548952	242	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM3388820 CA9072800 COSM3388819 rs752620549	242	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA403282301 rs1454820465	245	Q>*		No	ClinGen gnomAD
CA403282313 rs1477194810	245	Q>H		No	ClinGen TOPMed
rs745525575 CA403282641	247	I>M		No	ClinGen ExAC TOPMed gnomAD
CA403282361 rs1431398891	247	I>T		No	ClinGen gnomAD
rs1423090494 CA403282351	247	I>V		No	ClinGen gnomAD
CA403282690 rs1599164051	250	D>A		No	ClinGen Ensembl
rs771655255 CA403282855	255	E>K		No	ClinGen ExAC gnomAD
rs771655255 CA9072817	255	E>Q		No	ClinGen ExAC gnomAD
CA9072818 rs774891628	256	D>A		No	ClinGen ExAC gnomAD
rs1335965008 CA403282904	257	A>S		No	ClinGen gnomAD
COSM710560 COSM710561 CA403282912 rs1233031120	257	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA304298628 rs867308541	258	W>R		No	ClinGen gnomAD
rs377362419 CA9072820	260	R>K		No	ClinGen ESP ExAC gnomAD
rs776485299 CA9072821	262	D>E		No	ClinGen ExAC gnomAD
CA403283031 rs752227580	263	A>G		No	ClinGen TOPMed
CA304298634 rs752227580	263	A>V		No	ClinGen TOPMed
rs1259492500 CA403283059	265	P>L		No	ClinGen gnomAD
CA304298643 rs992083008	265	P>S		No	ClinGen TOPMed gnomAD
rs565639059 CA9072824	266	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA304298645 rs565639059	266	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403283097 rs1242213285	267	Q>R		No	ClinGen TOPMed
rs199719687 CA9072825	268	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs147398793 CA9072829	269	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9072830 rs751638415	271	L>R		No	ClinGen ExAC gnomAD
rs984487138 CA304298669	272	A>T		No	ClinGen TOPMed gnomAD
rs374523528 CA9072833	272	A>V		No	ClinGen ESP ExAC gnomAD
rs201705289 CA9072835	273	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9072837 rs144709669	274	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9072839 rs775054821	276	K>I		No	ClinGen ExAC TOPMed gnomAD
rs150862919 CA9072840	278	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1417181622 CA403283296	278	E>Q		No	ClinGen TOPMed
CA403283360 CA403283356 rs1282467594	280	M>I		No	ClinGen TOPMed gnomAD
CA9072841 rs768221505	280	M>T		No	ClinGen ExAC TOPMed gnomAD
CA403283364 rs375035546	281	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs376615116 CA9072844	281	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375035546 CA9072842	281	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1467766997 CA403283388	282	I>L		No	ClinGen TOPMed
rs763137764 CA9072846	282	I>T		No	ClinGen ExAC gnomAD
CA403283456 rs1011770029	284	A>G		No	ClinGen gnomAD
CA403283440 rs1437338917	284	A>T		No	ClinGen gnomAD
rs1011770029 CA304298705	284	A>V		No	ClinGen gnomAD
rs767644574 CA9072850	286	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1568215423 CA403283565	287	E>K		No	ClinGen Ensembl
CA304298728 rs1035743269	289	V>G		No	ClinGen TOPMed
rs778249399 CA9072853	289	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9072854 rs778249399	289	V>M		No	ClinGen ExAC TOPMed gnomAD
rs758122305 CA9072855	290	L>P		No	ClinGen ExAC gnomAD
rs201798976 CA403283720	291	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201798976 CA9072857	291	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9072858 rs145393603	292	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9072860 rs371430440	294	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA403283852 rs1199763375	295	S>I		No	ClinGen TOPMed gnomAD
CA403283846 rs1199763375	295	S>N		No	ClinGen TOPMed gnomAD
rs908874979 CA304298741	296	S>T		No	ClinGen Ensembl
rs772976016 CA9072862	297	F>L		No	ClinGen ExAC gnomAD
rs769774847 CA9072861	297	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs141406529 CA9072863	298	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs556698104 CA9072867	299	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM994363 CA9072866 COSM994362 rs374365091	299	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA304298759 rs576843904	301	V>M		No	ClinGen TOPMed gnomAD
CA304298763 rs1053245230	303	T>I		No	ClinGen TOPMed
CA403284161 rs1478008290	306	R>G		No	ClinGen gnomAD
rs752861192 CA9072868	306	R>K		No	ClinGen ExAC gnomAD
CA403284240 rs1422248158	308	G>D		No	ClinGen gnomAD
rs761252299 CA9072869	309	I>M		No	ClinGen ExAC gnomAD
TCGA novel	311	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866691522 CA403284297	311	V>L		No	ClinGen TOPMed gnomAD
rs866691522 CA304298775	311	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA403284385 rs1232582306	315	T>S		No	ClinGen TOPMed
CA304298796 rs959466465	316	G>R		No	ClinGen TOPMed
rs1273063732 CA403284462	317	Q>R		No	ClinGen gnomAD
rs1341381288 CA403284505	318	V>G		No	ClinGen gnomAD
CA403284525 rs1214948851	319	A>S		No	ClinGen gnomAD
rs779357860 CA9072873	320	E>D		No	ClinGen ExAC TOPMed gnomAD
rs990937278 CA304298797	320	E>K		No	ClinGen TOPMed gnomAD
rs751133154 CA9072874	321	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9072875 rs754701022	321	D>V		No	ClinGen ExAC gnomAD
CA403284584 rs1264824235	322	R>W		No	ClinGen gnomAD
CA403284603 rs1599164716	323	F>V		No	ClinGen Ensembl
rs1404291833 CA403284649	324	P>L		No	ClinGen TOPMed
rs1474041173 CA403284670	325	E>D		No	ClinGen gnomAD
rs780660720 CA403284683	326	S>I		No	ClinGen ExAC gnomAD
CA9072877 rs780660720	326	S>T		No	ClinGen ExAC gnomAD
rs199549520 CA9072879	327	H>P		No	ClinGen ExAC gnomAD
CA9072880 rs199549520	327	H>R		No	ClinGen ExAC gnomAD
rs747712252 CA9072878	327	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1599164799 CA403284792	329	P>L		No	ClinGen Ensembl
CA403284795 rs1599164799	329	P>R		No	ClinGen Ensembl
rs1165984634 CA403284788	329	P>S		No	ClinGen gnomAD
CA9072883 rs770578786	330	I>T		No	ClinGen ExAC gnomAD
rs373092028 CA9072882	330	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs759643393 CA9072885	331	Q>*		No	ClinGen ExAC gnomAD
CA9072886 rs772383730	331	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA403285979 rs1599165209	332	T>P		No	ClinGen Ensembl
CA403286009 rs1394043074 CA403286007	334	G>R		No	ClinGen gnomAD
CA9072932 rs763388594	335	A>T		No	ClinGen ExAC TOPMed gnomAD
rs182608246 CA304298977	336	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9072935 rs760297974 COSM994365 COSM994364	338	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs756736116 CA9072938	339	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA403286088 rs756736116	339	T>P		No	ClinGen ExAC gnomAD
rs1239091340 CA403286170	345	N>D		No	ClinGen gnomAD
CA9072940 rs146844578	347	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9072942 rs140689745	348	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs140689745 CA9072941	348	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	350	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9072946 rs781406061	352	G>D		No	ClinGen ExAC
rs1376982287 CA403286288	352	G>S		No	ClinGen TOPMed gnomAD
rs1568216082 CA403286325	354	Y>C		No	ClinGen Ensembl
CA403286339 rs1447136278	355	N>H		No	ClinGen TOPMed
CA9072947 rs748328533	355	N>K		No	ClinGen ExAC TOPMed gnomAD
rs900445826 CA403286353	355	N>S	Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA304298998 rs900445826	355	N>T		No	ClinGen TOPMed gnomAD
rs1047372820 CA304299001	358	S>C		No	ClinGen TOPMed
CA403286399 rs1445516041	358	S>T		No	ClinGen TOPMed gnomAD
CA9072950 rs749763451	359	V>M		No	ClinGen ExAC gnomAD
rs771475818 CA9072951	360	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759958804 CA9072953	361	V>M		No	ClinGen ExAC TOPMed gnomAD
rs761404814 CA9072956	363	D>E		No	ClinGen ExAC gnomAD
rs1197025715 CA403286547	365	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766494422 CA9072960	366	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs140669738 CA403286576	367	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9072962 rs140669738	367	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9072963 rs780868393	370	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1434322922 CA403286628	370	H>Y		No	ClinGen TOPMed gnomAD
CA403286683 rs1568216195	372	K>T		No	ClinGen Ensembl
rs756327021 CA9072966	374	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs150093541 CA9072968	374	Q>H		No	ClinGen ESP ExAC TOPMed
CA9072970 rs771422468	376	P>L		No	ClinGen ExAC gnomAD
CA403286757 rs1379315031	376	P>S		No	ClinGen TOPMed
CA403286802 rs1417228187	378	A>V		No	ClinGen TOPMed
rs1599165623 CA403286820	380	L>I		No	ClinGen Ensembl
rs779336079 CA9072972	381	N>S		No	ClinGen ExAC TOPMed gnomAD
CA403286857 rs1292371213	382	C>F		No	ClinGen gnomAD
CA403286854 rs1292371213	382	C>Y		No	ClinGen gnomAD
CA403286921 rs1384374530	386	D>A		No	ClinGen gnomAD
rs1340347613 CA403286948	387	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA403286965 rs1275354973	388	N>K		No	ClinGen gnomAD
rs1220942845 CA403286979	389	L>Q		No	ClinGen gnomAD
CA403286972 rs1322483285	389	L>V		No	ClinGen gnomAD
CA304299037 rs937628874	390	D>Y		No	ClinGen Ensembl
CA9072976 rs775758684	391	A>G		No	ClinGen ExAC gnomAD
rs199781582 CA304299043	392	N>I		No	ClinGen ExAC TOPMed gnomAD
rs199781582 CA9072978	392	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1477407498 CA403287041	393	L>V		No	ClinGen gnomAD
rs1191233915 CA403287052	394	A>T		No	ClinGen gnomAD
rs762488562 CA9072980	394	A>V		No	ClinGen ExAC gnomAD
CA403287102 rs1447444919	396	A>G		No	ClinGen TOPMed gnomAD
CA9072982 rs751489659	396	A>S		No	ClinGen ExAC gnomAD
CA9072983 rs751489659	396	A>T		No	ClinGen ExAC gnomAD
rs752483396 CA9072985	398	F>L		No	ClinGen ExAC gnomAD
CA9072987 rs764288043	399	T>I		No	ClinGen ExAC gnomAD
rs1244151884 CA403287182	401	G>S		No	ClinGen Ensembl
CA9072988 rs754061462	402	V>M		No	ClinGen ExAC gnomAD
CA304299069 rs1018498431	404	R>T		No	ClinGen TOPMed gnomAD
rs757279812 CA9072989	405	I>V		No	ClinGen ExAC gnomAD
CA403287290 rs1217092569	406	W>*		No	ClinGen TOPMed
rs778997869 CA9072990	409	R>W		No	ClinGen ExAC TOPMed gnomAD
CA403287350 rs1237964344	410	D>G		No	ClinGen TOPMed
rs746343352 CA9072991	412	S>G		No	ClinGen ExAC gnomAD
CA9072992 rs367866687	413	V>A		No	ClinGen ESP ExAC TOPMed
rs780457906 CA403287403	414	V>F		No	ClinGen ExAC gnomAD
CA9072993 rs780457906	414	V>I		No	ClinGen ExAC gnomAD
rs1214199078 CA403287422	415	R>M		No	ClinGen gnomAD
CA403288598 rs1443173654	416	D>G		No	ClinGen gnomAD
rs982323654 CA304300410	418	K>Q		No	ClinGen Ensembl
CA9073030 rs762010740	418	K>R		No	ClinGen ExAC TOPMed gnomAD
CA9073031 rs765514197	419	G>V		No	ClinGen ExAC gnomAD
rs1222798343 CA403288648	420	Y>C		No	ClinGen TOPMed
CA403288670 rs1568218663	421	P>L		No	ClinGen Ensembl
rs1319593635 CA403288660	421	P>S		No	ClinGen gnomAD
rs750666304 CA9073032	422	D>E		No	ClinGen ExAC TOPMed gnomAD
rs138108619 CA9073034	424	V>I		No	ClinGen ESP ExAC TOPMed
rs755579533 CA9073036	425	K>R		No	ClinGen ExAC TOPMed gnomAD
CA304300443 rs376939088	426	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9073039 rs149510291 CA9073038	426	S>R		No	ClinGen ESP ExAC gnomAD
rs376939088 CA9073037	426	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA304300446 rs762659345	427	I>F		No	ClinGen TOPMed
CA403288741 rs762659345	427	I>V		No	ClinGen TOPMed
rs745545547 CA403288754	428	V>L		No	ClinGen ExAC TOPMed gnomAD
rs745545547 CA9073041	428	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1599170657 CA403288780	430	K>N		No	ClinGen Ensembl
rs1170303899 CA403288783	431	G>S		No	ClinGen gnomAD
CA9073044 rs746899472	432	Y>C		No	ClinGen ExAC gnomAD
rs148540573 CA9073043	432	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	432	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304300466 rs1040903492	434	I>V		No	ClinGen Ensembl
rs1199932176 CA403288835	435	W>C		No	ClinGen TOPMed
rs1435622235 CA403288825	435	W>G		No	ClinGen TOPMed gnomAD
CA9073047 rs775595254	436	T>I		No	ClinGen ExAC TOPMed gnomAD
rs776409892 CA9073046	436	T>S		No	ClinGen ExAC gnomAD
CA403288860 rs1257108715	438	G>D		No	ClinGen TOPMed gnomAD
CA403288862 rs1257108715	438	G>V		No	ClinGen TOPMed gnomAD
CA9073049 rs199757173	439	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	439	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403288920 rs1428210928	444	R>Q		No	ClinGen gnomAD
rs751705597 CA9073053	444	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1435765881 CA403288946	446	W>*		No	ClinGen TOPMed
CA403288953 rs1193307956	446	W>C		No	ClinGen gnomAD
CA403288978 rs1473868824	448	Q>H		No	ClinGen TOPMed gnomAD
CA9073056 rs768204804	448	Q>P		No	ClinGen ExAC gnomAD
CA9073057 rs753259755	450	T>S		No	ClinGen ExAC TOPMed gnomAD
CA403289005 rs1219893276	451	I>N		No	ClinGen TOPMed gnomAD
CA403289007 rs1219893276	451	I>T		No	ClinGen TOPMed gnomAD
rs778220394 CA9073059	452	M>K		No	ClinGen ExAC gnomAD
CA403289033 rs1301281034	453	K>N		No	ClinGen TOPMed gnomAD
CA403289058 rs1426687476	456	E>A		No	ClinGen TOPMed
rs750014486 CA9073063	461	S>F		No	ClinGen ExAC gnomAD
rs750014486 CA9073062	461	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	462	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1353624711 CA403289122	463	I>K		No	ClinGen TOPMed
rs1449960717 CA403289127	464	M>V		No	ClinGen gnomAD
CA9073090 rs777412586	465	S>N		No	ClinGen ExAC gnomAD
rs749170107 CA9073091	465	S>R		No	ClinGen ExAC gnomAD
rs1312880813 CA403289142	466	L>V		No	ClinGen TOPMed
CA403289159 rs1377743424	467	S>C		No	ClinGen TOPMed
CA403289149 rs1599174286	467	S>P		No	ClinGen Ensembl
rs746112852 CA9073094	468	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs529227877 CA403289179	469	S>I		No	ClinGen 1000Genomes TOPMed
rs529227877 CA9073095	469	S>N		No	ClinGen 1000Genomes TOPMed
CA9073098 rs371178281	470	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9073097 rs772237436	470	P>S		No	ClinGen ExAC gnomAD
rs761252171 CA9073099	472	E>G		No	ClinGen ExAC gnomAD
rs1200790167 CA403289734	472	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	473	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764729766 CA9073100	473	D>N		No	ClinGen ExAC gnomAD
CA403289768 rs1599174369	474	W>G		No	ClinGen Ensembl
CA9073103 rs762182832	474	W>S		No	ClinGen ExAC gnomAD
rs1467994398 CA403289814	478	G>A		No	ClinGen gnomAD
rs1376890308 CA403289807	478	G>S		No	ClinGen gnomAD
CA9073105 rs751175290	479	M>T		No	ClinGen ExAC gnomAD
rs867598847 CA304301582	480	A>T		No	ClinGen gnomAD
rs1295934202 CA403289856	480	A>V		No	ClinGen gnomAD
CA403289873 rs1188679497	481	N>S		No	ClinGen TOPMed
TCGA novel	482	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA304301590 rs868453681	485	W>R		No	ClinGen Ensembl
rs766989413 CA9073107	487	Q>E		No	ClinGen ExAC gnomAD
rs146055967 CA304301599	488	S>T		No	ClinGen ESP TOPMed gnomAD
CA403290064 rs1317512322	490	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA403290066 rs1317512322	490	S>R		No	ClinGen TOPMed gnomAD
CA9073110 rs375057396	491	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs375057396 CA403290099	491	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9073113 rs757026461	492	S>N		No	ClinGen ExAC gnomAD
rs143898372 CA9073115	494	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778881312 CA9073114	494	R>W		No	ClinGen ExAC gnomAD
CA9073116 rs533155876	495	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9073117 rs371324549	495	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs533155876 CA304301625	495	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs949267141 CA304301634	496	M>V		No	ClinGen TOPMed
CA403290227 rs1167753292	497	V>L		No	ClinGen gnomAD
rs549297336 CA9073119	498	G>E		No	ClinGen ExAC gnomAD
CA403290258 rs1351145676	498	G>R		No	ClinGen gnomAD
rs1293471265 CA403290282	499	Q>*		No	ClinGen gnomAD
CA403290290 rs1364176357	499	Q>R		No	ClinGen gnomAD
rs1209062970 CA403290325	501	D>H		No	ClinGen TOPMed gnomAD
rs995948406 CA304301639	502	S>T		No	ClinGen TOPMed
CA403290449 rs1256892446	505	L>M		No	ClinGen TOPMed gnomAD
CA304301644 rs867448895	506	S>N		No	ClinGen gnomAD
CA9073123 rs139657057	507	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403290543 rs1489835680	508	K>Q		No	ClinGen gnomAD
CA9073125 rs759171798	508	K>R		No	ClinGen ExAC gnomAD
CA9073126 rs767222404 COSM439163 COSM439162	510	S>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs150039726 CA9073127	511	P>A		No	ClinGen ESP ExAC gnomAD
CA9073128 rs760173639	511	P>H		No	ClinGen ExAC gnomAD
CA9073129 rs763533512	513	G>S		No	ClinGen ExAC gnomAD
rs371832700 CA9073158	514	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312976210 CA403290884 COSM178527	515	W>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1402641492 CA403290896	516	W>*		No	ClinGen gnomAD
CA9073160 rs778192582	516	W>G		No	ClinGen ExAC gnomAD
CA9073161 rs749816466	517	A>T		No	ClinGen ExAC gnomAD
CA403290908 rs1415867489	517	A>V		No	ClinGen TOPMed
CA403290929 rs1328249471	518	S>N		No	ClinGen gnomAD
CA9073164 rs746651067	519	V>A		No	ClinGen ExAC TOPMed gnomAD
rs774617976 CA9073163	519	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9073165 rs144932623	520	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA403290951 rs1368059556	520	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA304302123 rs951449813	521	M>I		No	ClinGen Ensembl
CA403290972 rs1599175869	521	M>R		No	ClinGen Ensembl
CA9073166 rs776350715	522	D>Y		No	ClinGen ExAC
rs559972945 CA9073168	523	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1004620671 CA304302137	525	L>F		No	ClinGen TOPMed gnomAD
rs1224457831 CA403291086	526	G>D		No	ClinGen gnomAD
rs1441371187 CA403291122	527	V>A		No	ClinGen TOPMed gnomAD
rs201913892 CA9073172	527	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1426114280 CA403291133	528	Y>H		No	ClinGen gnomAD
CA403291159 rs1599175967	529	S>G		No	ClinGen Ensembl
CA9073176 CA403291217 rs752974556	530	M>I		No	ClinGen ExAC gnomAD
rs541118460 CA304302188	530	M>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs767565358 CA403291189	530	M>R		No	ClinGen ExAC TOPMed gnomAD
rs767565358 CA9073175	530	M>T		No	ClinGen ExAC TOPMed gnomAD
CA9073177 rs200522179 COSM439164 COSM439165	531	P>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1366114001 CA403291225	531	P>S		No	ClinGen TOPMed gnomAD
rs749763013 CA9073179	532	A>T		No	ClinGen ExAC gnomAD
rs757810781 CA9073180	532	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746153839 CA9073182 COSM1740586 COSM1740585	533	G>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA403291281 rs1336893418	533	G>R		No	ClinGen gnomAD
rs1599176080 CA403291332	534	T>A		No	ClinGen Ensembl
rs1599176136 CA403291402	536	V>G		No	ClinGen Ensembl
CA403291396 rs1265752650	536	V>M		No	ClinGen gnomAD
COSM3422630 COSM3422629 rs987371288 CA403291426	537	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9073183 rs752045340	538	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9073184 rs752045340	538	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs778523096 CA9073239	539	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778523096 CA9073238	539	V>M		No	ClinGen ExAC TOPMed gnomAD
rs772104297 CA9073240	540	P>S		No	ClinGen ExAC gnomAD
CA403292186 rs1332770411	542	M>I		No	ClinGen gnomAD
rs760404451 CA9073243	542	M>V		No	ClinGen ExAC TOPMed gnomAD
rs141174431 CA9073245	543	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs141174431 CA9073244	543	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs762137613 CA9073246	544	P>L		No	ClinGen ExAC gnomAD
CA403292201 rs1370807070	545	V>D		No	ClinGen gnomAD
CA403292200 rs1305431343	545	V>F		No	ClinGen TOPMed gnomAD
CA403292199 rs1305431343	545	V>L		No	ClinGen TOPMed gnomAD
rs146997057 CA9073248	546	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9073247 rs146997057	546	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs766930705 CA9073250	547	C>R		No	ClinGen ExAC gnomAD
rs185878675 CA9073251	548	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403292225 rs1200653454	549	D>G		No	ClinGen gnomAD
rs755341491 CA9073252	549	D>N		No	ClinGen ExAC
CA9073254 rs753398922	550	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1195177975 CA403292238	551	S>C		No	ClinGen gnomAD
rs372173822 CA9073255	552	S>P		No	ClinGen ESP ExAC gnomAD
rs778271167 CA9073256	552	S>Y		No	ClinGen ExAC gnomAD
CA403292256 rs1479234869	554	N>S		No	ClinGen TOPMed gnomAD
CA9073258 rs188333998	555	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs573128239 CA9073259	555	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs188333998 CA403292260	555	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403292264 rs1192521316	556	L>V		No	ClinGen TOPMed
CA403292271 rs201878408	557	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9073262 rs201878408	557	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9073263 rs776460999	559	T>I		No	ClinGen ExAC TOPMed gnomAD
CA403292291 rs1343913712	560	G>A		No	ClinGen gnomAD
CA9073265 rs770123619	561	S>P		No	ClinGen ExAC gnomAD
rs766584615 CA9073268	562	G>E		No	ClinGen ExAC gnomAD
rs141722011 CA9073267	562	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs760158074 CA403292306	563	E>D		No	ClinGen ExAC gnomAD
CA9073269 rs774955682	563	E>K		No	ClinGen ExAC TOPMed gnomAD
CA403292315 rs150135561	564	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs962660214 CA304303129	565	A>T		No	ClinGen TOPMed gnomAD
CA9073272 rs753162351	565	A>V		No	ClinGen ExAC
CA9073274 rs376160916	567	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA403292359 rs1211240328	571	T>N		No	ClinGen gnomAD
CA403292363 rs1487774498	572	Y>S		No	ClinGen gnomAD

1 associated diseases with Q9H808

[MIM: 616814]: Preimplantation embryonic lethality 1 (PREMBL1)

A rare cause of female primary infertility. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired. Inheritance is autosomal recessive. {ECO:0000269|PubMed:26537248, ECO:0000269|PubMed:31897846, ECO:0000269|PubMed:33020905}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A rare cause of female primary infertility. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired. Inheritance is autosomal recessive. {ECO:0000269|PubMed:26537248, ECO:0000269|PubMed:31897846, ECO:0000269|PubMed:33020905}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for Q9H808

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	276 - 313	IPR001680-1
repeat	WD40 repeat	326 - 363	IPR001680-2
repeat	WD40 repeat	368 - 407	IPR001680-3
repeat	WD40 repeat	410 - 447	IPR001680-4
repeat	WD40 repeat	490 - 529	IPR001680-5
repeat	WD40 repeat	532 - 569	IPR001680-6

Functions

		Description
EC Number
Subcellular Localization	Nucleus ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
subcortical maternal complex	Comprised of at least NLRP5, OOEP, TLE6, and KHDC3/KHDC3L with evidence of additional SCMC-associated proteins that interact with one or multiple members of the core complex.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

1 GO annotations of molecular function

Name	Definition
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.

9 GO annotations of biological process

Name	Definition
actin filament organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
embryonic process involved in female pregnancy	A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother.
endoplasmic reticulum localization	Any process in which endoplasmic reticulum is transported to, and/or maintained in, a specific location within the cell.
establishment of spindle localization	The directed movement of the spindle to a specific location in the cell.
mitochondrion localization	Any process in which a mitochondrion or mitochondria are transported to, and/or maintained in, a specific location within the cell.
negative regulation of canonical Wnt signaling pathway	Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
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.
positive regulation of embryonic development	Any process that activates or increases the frequency, rate or extent of embryonic development.
regulation of cell division	Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9WVB3	Tle6	Transducin-like enhancer protein 6	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTSRDQPRPK	GPPKSTSPCP	GISNSESSPT	LNYQGILNRL	KQFPRFSPHF	AAELESIYYS
70	80	90	100	110	120
LHKIQQDVAE	HHKQIGNVLQ	IVESCSQLQG	FQSEEVSPAE	PASPGTPQQV	KDKTLQESSF
130	140	150	160	170	180
EDIMATRSSD	WLRRPLGEDN	QPETQLFWDK	EPWFWHDTLT	EQLWRIFAGV	HDEKAKPRDR
190	200	210	220	230	240
QQAPGLGQES	KAPGSCDPGT	DPCPEDASTP	RPPEASSSPP	EGSQDRNTSW	GVVQEPPGRA
250	260	270	280	290	300
SRFLQSISWD	PEDFEDAWKR	PDALPGQSKR	LAVPCKLEKM	RILAHGELVL	ATAISSFTRH
310	320	330	340	350	360
VFTCGRRGIK	VWSLTGQVAE	DRFPESHLPI	QTPGAFLRTC	LLSSNSRSLL	TGGYNLASVS
370	380	390	400	410	420
VWDLAAPSLH	VKEQLPCAGL	NCQALDANLD	ANLAFASFTS	GVVRIWDLRD	QSVVRDLKGY
430	440	450	460	470	480
PDGVKSIVVK	GYNIWTGGPD	ACLRCWDQRT	IMKPLEYQFK	SQIMSLSHSP	QEDWVLLGMA
490	500	510	520	530	540
NGQQWLQSTS	GSQRHMVGQK	DSVILSVKFS	PFGQWWASVG	MDDFLGVYSM	PAGTKVFEVP
550	560	570
EMSPVTCCDV	SSNNRLVVTG	SGEHASVYQI	TY