AiPD: Autoinhibited Protein Database

Q86SX3

Gene name	TEDC1
Protein name	Tubulin epsilon and delta complex protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:283643
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-65 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-65 (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 Q86SX3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86SX3-F1	Predicted				AlphaFoldDB

526 variants for Q86SX3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1555439211 CA391187345	2	G>E		No	ClinGen gnomAD
CA391187387 rs1595468642	4	R>P		No	ClinGen Ensembl
rs1595468638 CA391187383	4	R>W		No	ClinGen Ensembl
CA266580068 rs983489160	5	R>Q		No	ClinGen TOPMed gnomAD
rs1555439212 CA391187396	5	R>W		No	ClinGen gnomAD
CA391187459 rs1380590449	7	R>W		No	ClinGen TOPMed gnomAD
CA391187520 rs1299035556	9	D>V		No	ClinGen TOPMed gnomAD
CA266580093 rs942266793	12	A>V		No	ClinGen TOPMed gnomAD
rs1172327769 CA391187695	14	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1595468702 CA391187703	14	A>V		No	ClinGen Ensembl
rs1555439220 CA391187709	15	R>W		No	ClinGen gnomAD
rs1555439222 CA391187777	16	A>G		No	ClinGen gnomAD
CA391187760 rs1555439222	16	A>V		No	ClinGen gnomAD
CA391187802 rs1478671847	17	G>E		No	ClinGen TOPMed
CA391187810 rs1595468732	18	A>D		No	ClinGen Ensembl
CA391187852 rs1044626528	20	P>S		No	ClinGen TOPMed
rs1044626528 CA266580095	20	P>T		No	ClinGen TOPMed
CA391187883 rs1476559203	22	A>G		No	ClinGen TOPMed
rs1555439229 CA391187878	22	A>T		No	ClinGen gnomAD
CA391187916 rs1555439231	23	I>M		No	ClinGen gnomAD
rs1261768483 CA391187894	23	I>V		No	ClinGen TOPMed
CA391187947 rs1555439233	25	A>T		No	ClinGen gnomAD
rs1555439234 CA391187981	26	L>W		No	ClinGen gnomAD
rs587594638 CA266580097	28	R>Q		No	ClinGen 1000Genomes
rs1555439240 CA391188059	29	S>L		No	ClinGen gnomAD
rs1276288681 CA391188103	31	P>L		No	ClinGen TOPMed gnomAD
rs938866683 CA266580100	31	P>S		No	ClinGen TOPMed gnomAD
CA391188113 rs1199641851	32	S>A		No	ClinGen TOPMed
CA391188119 rs1345703853	32	S>L		No	ClinGen TOPMed gnomAD
CA391188120 rs1257682919 CA391188121	33	G>R		No	ClinGen TOPMed gnomAD
rs1339969591 CA391188155	36	P>S		No	ClinGen TOPMed
CA391188209 rs1402124805	39	F>C		No	ClinGen TOPMed gnomAD
CA391188208 rs1402124805	39	F>S		No	ClinGen TOPMed gnomAD
CA391188203 rs1555439245	39	F>V		No	ClinGen gnomAD
rs896261752 CA266580106	40	R>C		No	ClinGen Ensembl
rs1555439254 CA391188227	41	R>C		No	ClinGen gnomAD
rs1555439256 CA391188255	43	K>Q		No	ClinGen gnomAD
CA391188258 rs1333991552	43	K>R		No	ClinGen TOPMed gnomAD
CA391188257 rs1333991552	43	K>T		No	ClinGen TOPMed gnomAD
rs1009710023 CA266580107	45	D>E		No	ClinGen Ensembl
rs1555439265 CA391188305	46	R>H		No	ClinGen gnomAD
CA391188307 rs1555439265	46	R>L		No	ClinGen gnomAD
rs1415402359 CA391188312	47	P>T		No	ClinGen TOPMed
rs1595469104 CA391188379	51	S>F		No	ClinGen Ensembl
CA391188391 rs781787303	53	L>F		No	ClinGen ExAC gnomAD
CA391188395 rs1555439321	53	L>P		No	ClinGen gnomAD
rs781787303 CA7390946	53	L>V		No	ClinGen ExAC gnomAD
rs1555439328 CA391188402	54	W>*		No	ClinGen gnomAD
CA391188411 rs1555439331	55	Q>K		No	ClinGen gnomAD
rs1162296252 CA391188427	56	L>H		No	ClinGen TOPMed gnomAD
CA391188429 rs1162296252	56	L>P		No	ClinGen TOPMed gnomAD
rs782609371 CA7390948	58	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7390949 rs782231587	60	V>L		No	ClinGen ExAC gnomAD
rs1555439349 CA391188475	61	L>F		No	ClinGen gnomAD
CA266580311 rs983906045	62	S>L		No	ClinGen TOPMed gnomAD
CA391188498 rs11554478	63	P>L		No	ClinGen Ensembl
rs1238712587 CA391188493	63	P>S		No	ClinGen TOPMed gnomAD
CA266580316 rs909216811	64	L>I		No	ClinGen gnomAD
CA391188499 rs909216811	64	L>V		No	ClinGen gnomAD
CA391188507 rs1567071997	65	P>A		No	ClinGen Ensembl
rs76054490 CA7390952	65	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1555439362 CA391188514	66	A>T		No	ClinGen gnomAD
rs1555439363 CA391188521	66	A>V		No	ClinGen gnomAD
CA391188526 rs1358694723	67	G>A		No	ClinGen TOPMed gnomAD
CA7390953 rs587675709	67	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391188527 rs1358694723	67	G>V		No	ClinGen TOPMed gnomAD
rs587744754 CA266580333	68	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA391188535 rs1555439369	68	N>S		No	ClinGen gnomAD
CA391188543 rs1555439370	69	A>S		No	ClinGen gnomAD
rs781939530 CA7390954	70	L>F		No	ClinGen ExAC gnomAD
CA391188563 rs938897682	71	A>E		No	ClinGen gnomAD
TCGA novel	71	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs938897682 CA266580334	71	A>V		No	ClinGen gnomAD
rs782086865 CA7390955	72	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1555439386 CA391188591	74	A>G		No	ClinGen gnomAD
CA391188588 rs1347633799	74	A>S		No	ClinGen TOPMed
rs1405643770 CA391188598	75	L>P		No	ClinGen TOPMed gnomAD
rs1405643770 CA391188600	75	L>R		No	ClinGen TOPMed gnomAD
rs373402464 CA7390956	75	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7390958 rs782135409	76	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1555439522 CA391188673	77	V>A		No	ClinGen gnomAD
rs782787250 CA7390984	77	V>F		No	ClinGen ExAC TOPMed gnomAD
CA391188666 rs782787250	77	V>I		No	ClinGen ExAC TOPMed gnomAD
CA391188667 rs782787250	77	V>L		No	ClinGen ExAC TOPMed gnomAD
CA391188715 rs587618908	79	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7390986 rs587618908	79	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7390988 rs782451914	80	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7390989 rs782451914	80	R>G		No	ClinGen ExAC TOPMed gnomAD
rs181709041 CA7390990	80	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	82	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391188855 rs1168163429	87	C>R		No	ClinGen TOPMed
rs1476168566 CA391188874	88	S>P		No	ClinGen TOPMed
rs781965220 CA7390996	92	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782155658 CA7391000	95	A>T		No	ClinGen ExAC
rs781863269 CA266580710	95	A>V		No	ClinGen Ensembl
rs959989840 CA266580717	96	L>V		No	ClinGen Ensembl
CA391189082 rs1567072507	98	Q>*		No	ClinGen Ensembl
rs1457386062 CA391189099	98	Q>H		No	ClinGen TOPMed
rs782695146 CA7391001	99	L>V		No	ClinGen ExAC gnomAD
CA7391003 rs782107920	100	P>L		No	ClinGen ExAC gnomAD
rs185620086 CA7391002	100	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7391005 rs781879165	101	E>A		No	ClinGen ExAC gnomAD
rs782819389 CA7391007	102	D>A		No	ClinGen ExAC TOPMed gnomAD
CA391189208 rs1555439566	102	D>E		No	ClinGen gnomAD
rs782819389 CA7391008	102	D>G		No	ClinGen ExAC TOPMed gnomAD
rs782529386 CA7391006	102	D>N		No	ClinGen ExAC TOPMed gnomAD
rs368575867 CA7391009	104	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA391189287 rs1555439571	106	G>V		No	ClinGen gnomAD
CA7391012 rs190336306	107	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7391013 rs587677061	107	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs587677061 CA391189307	107	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs180744711 CA7391015	108	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs587683388 COSM1368707 CA7391014	108	R>W	Variant assessed as Somatic; 0.0002821 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7391017 rs782186927	109	E>K		No	ClinGen ExAC gnomAD
CA391189539 rs1162505412	118	L>F		No	ClinGen TOPMed gnomAD
rs1595470340 CA391189540	119	A>T		No	ClinGen Ensembl
CA7391022 rs781817985	120	R>*		No	ClinGen ExAC TOPMed gnomAD
CA391189557 rs782053307	120	R>P		No	ClinGen ExAC TOPMed gnomAD
rs782053307 CA7391023	120	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7391024 rs201690661	121	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1555439599 CA391189584	122	P>H		No	ClinGen gnomAD
CA7391025 rs781818686	123	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1176733549 CA391189593	123	V>M		No	ClinGen TOPMed
CA391189656 rs1555439602	125	E>D		No	ClinGen gnomAD
CA7391028 rs373315186	125	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA391189619 rs373315186	125	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs782528643 CA7391030	127	M>L		No	ClinGen ExAC gnomAD
CA7391029 rs782528643	127	M>V		No	ClinGen ExAC gnomAD
TCGA novel	128	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7391031 rs781784997	129	A>S		No	ClinGen ExAC TOPMed gnomAD
CA391189744 rs1555439604	129	A>V		No	ClinGen gnomAD
CA7391033 rs782614506	132	R>*		No	ClinGen ExAC TOPMed gnomAD
rs587708518 CA7391034	132	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs587708518 CA391189793	132	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1595470411 CA391189817	133	V>G		No	ClinGen Ensembl
rs200813738 CA266580895	133	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs377507500 CA7391035	134	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA391189832 rs377507500	134	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7391037 rs782297610	136	G>D		No	ClinGen ExAC gnomAD
CA7391036 rs782674304	136	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7391039 rs782308934	137	D>E		No	ClinGen ExAC TOPMed gnomAD
rs370719810 CA266580903	137	D>G		No	ClinGen ESP TOPMed gnomAD
rs782084018 CA7391040	138	E>G		No	ClinGen ExAC TOPMed gnomAD
rs782354765 CA7391041	139	M>I		No	ClinGen ExAC TOPMed gnomAD
CA391189946 rs1555439618	140	T>S		No	ClinGen gnomAD
rs781981411 CA7391043	141	V>M		No	ClinGen ExAC gnomAD
TCGA novel	142	C>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480795063 CA391190145	145	E>G		No	ClinGen TOPMed
rs1176112649 CA391190137	145	E>K		No	ClinGen TOPMed
rs1555439682 CA391190158	146	A>S		No	ClinGen gnomAD
rs587754406 CA391190195	148	A>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA266581191 rs587754406	148	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs782383449 CA7391060	148	A>V		No	ClinGen ExAC gnomAD
rs587652095 CA7391062	149	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1555439689 CA391190235	150	P>R		No	ClinGen gnomAD
rs1248142038 CA391190260	152	P>L		No	ClinGen TOPMed
CA7391063 rs74091203	155	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA266581213 rs781995112	155	P>H		No	ClinGen gnomAD
CA391190309 rs781995112	155	P>R		No	ClinGen gnomAD
CA266581209 rs74091203	155	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1555439699 CA391190315	156	H>D		No	ClinGen gnomAD
rs781931988 CA7391064	156	H>L		No	ClinGen ExAC TOPMed gnomAD
rs112340345 CA7391065	157	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391190354 rs899079849	157	M>R		No	ClinGen TOPMed gnomAD
rs899079849 CA266581216	157	M>T		No	ClinGen TOPMed gnomAD
rs1555439703 CA391190337	157	M>V		No	ClinGen gnomAD
rs1555439706 CA391190384	159	A>S		No	ClinGen gnomAD
rs1555439707 CA391190402	159	A>V		No	ClinGen gnomAD
rs1555439708 CA391190445	160	E>D		No	ClinGen gnomAD
CA391190467 rs1555439712	161	G>C		No	ClinGen gnomAD
CA391190450 rs1555439712	161	G>S		No	ClinGen gnomAD
CA391190478 rs1366629961	162	P>T		No	ClinGen TOPMed
CA391190550 rs1363727846	164	D>E		No	ClinGen TOPMed
CA266581223 rs375089933	164	D>H		No	ClinGen ESP TOPMed
rs782004369 CA7391067	166	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7391068 rs782151431	166	R>H		No	ClinGen ExAC TOPMed gnomAD
CA391190576 rs782151431	166	R>L		No	ClinGen ExAC TOPMed gnomAD
rs587680986 CA7391069	167	H>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1555439731 CA391190717	172	M>T		No	ClinGen gnomAD
rs1490077683 CA391190770	175	L>R		No	ClinGen TOPMed
rs1224434227 CA391190781	176	R>Q		No	ClinGen TOPMed gnomAD
CA7391071 rs782457605	176	R>W		No	ClinGen ExAC TOPMed gnomAD
rs781843164 CA391190816	178	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7391073 rs781843164	178	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7391072 rs369945102	178	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs372232345 CA7391074	180	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA266581262 rs587638935 COSM1732776	180	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
rs1404622182 CA391190869	181	Q>*		No	ClinGen TOPMed
CA266581270 rs1033255212 CA391190881	181	Q>H		No	ClinGen gnomAD
CA391190872 rs1555439737	181	Q>P		No	ClinGen gnomAD
CA391190903 rs1555439742	183	V>A		No	ClinGen gnomAD
rs1555439742 CA391190904	183	V>G		No	ClinGen gnomAD
CA391190898 rs1555439741 CA391190899	183	V>L		No	ClinGen gnomAD
rs1555439748 CA391190983	186	Q>*		No	ClinGen gnomAD
CA391191014 rs1289994268	187	Q>R		No	ClinGen TOPMed
CA266581296 rs1029808895	188	E>G		No	ClinGen TOPMed gnomAD
CA266581295 rs996992355	188	E>K		No	ClinGen TOPMed
rs372900449 CA7391076	191	A>T		No	ClinGen ExAC TOPMed gnomAD
CA391191110 rs1429558256	191	A>V		No	ClinGen TOPMed
rs113761895 CA266581306	192	L>H		No	ClinGen Ensembl
TCGA novel	192	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555439766 CA391191170	194	S>N		No	ClinGen gnomAD
rs782524294	196	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs782226694 CA7391096	196	I>N		No	ClinGen ExAC gnomAD
rs1595472975 CA391191690	197	H>P		No	ClinGen Ensembl
CA391191734 rs1442269807	199	Y>*		No	ClinGen TOPMed
CA7391101 rs148446003	199	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148446003 CA391191728	199	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7391102 rs118022421	201	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs118022421 CA7391103	201	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7391104 rs59080216	201	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7391105 rs59080216	201	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391191777 rs1555439977	202	G>A		No	ClinGen gnomAD
CA7391107 rs140812013	202	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7391108 rs144656487	205	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391191855 rs934389740	206	D>E		No	ClinGen gnomAD
TCGA novel	206	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147865275 CA7391109	206	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391191859 rs1555439984	207	Q>E		No	ClinGen gnomAD
rs782726555 CA7391110	207	Q>H		No	ClinGen ExAC
TCGA novel	208	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781819407 CA7391111	208	S>I		No	ClinGen ExAC TOPMed gnomAD
CA7391112 rs781819407	208	S>N		No	ClinGen ExAC TOPMed gnomAD
CA391191887 rs782759694	208	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1555439985 CA391191892	209	L>V		No	ClinGen gnomAD
rs781894955 CA7391115	210	S>N		No	ClinGen ExAC TOPMed gnomAD
CA391191927 rs1410848414	210	S>R		No	ClinGen TOPMed gnomAD
rs781894955 CA7391114	210	S>T		No	ClinGen ExAC TOPMed gnomAD
CA7391116 rs782570786	211	H>Y		No	ClinGen ExAC gnomAD
CA391191960 rs1301880627	212	L>P		No	ClinGen TOPMed gnomAD
rs1595473112 CA391191999	214	V>A		No	ClinGen Ensembl
rs1555439990 CA391192002	215	T>A		No	ClinGen gnomAD
CA7391118 rs782470937	215	T>S		No	ClinGen ExAC gnomAD
rs782246489 CA7391120	216	E>G		No	ClinGen ExAC gnomAD
rs782631414 CA7391119	216	E>K		No	ClinGen ExAC gnomAD
CA7391121 rs371801390	219	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs80086621 CA7391122	219	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391192027 rs371801390	219	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA266582126 rs947309915	220	L>F		No	ClinGen Ensembl
rs782291389 CA7391124	221	R>G		No	ClinGen ExAC TOPMed gnomAD
rs782305933 CA7391125	221	R>K		No	ClinGen ExAC gnomAD
rs781932897 CA7391126	222	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7391127 rs782080808	223	P>T		No	ClinGen ExAC gnomAD
CA391192070 rs1472814466	225	G>E		No	ClinGen TOPMed gnomAD
rs59013219 CA7391128	225	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7391129 rs201752678	226	G>C		No	ClinGen ExAC TOPMed gnomAD
rs201752678 CA7391130	226	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1220232694 CA391192079	227	Q>*		No	ClinGen TOPMed
CA391192082 rs1595473222	227	Q>H		No	ClinGen Ensembl
rs782813113 CA7391131	227	Q>R		No	ClinGen ExAC gnomAD
rs1555439997 CA391192085	228	Q>E		No	ClinGen gnomAD
rs1555439999 CA391192089	228	Q>R		No	ClinGen gnomAD
CA391192635 rs1555440329	230	S>A		No	ClinGen gnomAD
CA7391173 rs113070134	232	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391192655 rs1555440332	233	G>E		No	ClinGen gnomAD
CA391192652 rs1377216881	233	G>R		No	ClinGen TOPMed gnomAD
rs1310742816 CA391192659	234	A>T		No	ClinGen TOPMed gnomAD
CA7391175 rs781837134	234	A>V		No	ClinGen ExAC TOPMed gnomAD
CA391192663 rs1294029619	235	A>T		No	ClinGen TOPMed gnomAD
CA391192671 rs1459425844	236	Q>*		No	ClinGen TOPMed gnomAD
rs1459425844 CA391192670	236	Q>E		No	ClinGen TOPMed gnomAD
CA391192672 rs1555440340	236	Q>P		No	ClinGen gnomAD
rs782704996 CA7391177	238	L>Q		No	ClinGen ExAC gnomAD
rs587611481 CA266583768	242	Y>F		No	ClinGen 1000Genomes
CA391192790 rs1343181977	244	K>N		No	ClinGen TOPMed
rs782292214 CA391192798	245	C>F		No	ClinGen ExAC TOPMed gnomAD
CA7391178 rs782292214	245	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA266583795 rs1042322180	249	F>L		No	ClinGen Ensembl
CA391192877 rs1253765605	251	T>A		No	ClinGen TOPMed
CA391192900 rs1485198164	252	P>L		No	ClinGen TOPMed gnomAD
rs782434998 CA7391180	252	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1555440352 CA391192923	254	M>K		No	ClinGen gnomAD
rs1241846641 CA391192953	256	P>L		No	ClinGen TOPMed gnomAD
rs782595569 CA7391181	257	R>*		No	ClinGen ExAC gnomAD
rs782437205 CA266583802	257	R>T		No	ClinGen Ensembl
rs1555440354 CA391192991	259	F>V		No	ClinGen gnomAD
rs1287713790 CA391193019	260	W>*		No	ClinGen TOPMed gnomAD
CA391193043 rs1555440357	261	N>S		No	ClinGen gnomAD
rs1346494461 CA391193085	263	L>P		No	ClinGen TOPMed gnomAD
CA391193115 rs1359808530	265	L>Q		No	ClinGen TOPMed
rs1001132182 CA266583810	266	V>I		No	ClinGen TOPMed gnomAD
rs587674031 CA7391182	267	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782366752 CA7391183	267	C>S		No	ClinGen ExAC gnomAD
CA391193147 rs782366752	267	C>Y		No	ClinGen ExAC gnomAD
CA266583851 rs374888760	274	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA391193242 rs1555440369	274	P>S		No	ClinGen gnomAD
rs997569746 CA266583859	275	G>A		No	ClinGen TOPMed
TCGA novel	276	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367946951 CA391193290 CA266583861	277	W>R		No	ClinGen gnomAD
CA391193325 rs1261651654	278	A>V		No	ClinGen TOPMed gnomAD
rs1195119367 CA391193331	279	A>V		No	ClinGen TOPMed gnomAD
rs1255911432 CA391193340	280	P>S		No	ClinGen TOPMed
rs950727415 CA266583879	283	P>S		No	ClinGen Ensembl
rs1555440378 CA391193416	284	G>V		No	ClinGen gnomAD
rs1555440382 CA391193421	285	G>E		No	ClinGen gnomAD
rs1555440381 CA391193418	285	G>W		No	ClinGen gnomAD
rs1234799117 CA391193443	287	S>L		No	ClinGen TOPMed gnomAD
CA391193486 rs1294761056	291	L>P		No	ClinGen TOPMed
rs1555440387 CA391193542	294	P>L		No	ClinGen gnomAD
rs963640242 CA266583912	297	A>V		No	ClinGen TOPMed gnomAD
rs1555440618 CA391194146	299	L>P		No	ClinGen gnomAD
rs143331574 CA7391198	300	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs80142487 CA7391197	300	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391194174 rs1555440623	303	E>Q		No	ClinGen gnomAD
rs1454359879 CA391194185	304	R>C		No	ClinGen TOPMed gnomAD
CA7391199 rs150970762	304	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1174536177 CA391194197	305	E>K		No	ClinGen TOPMed
CA391194212 rs1555440630	306	N>D		No	ClinGen gnomAD
rs1555440632 CA391194228	307	Q>K		No	ClinGen gnomAD
CA7391200 rs781866090	308	R>C		No	ClinGen ExAC TOPMed
rs868961496 CA391194253	308	R>H		No	ClinGen TOPMed gnomAD
CA7391201 rs782526717	310	E>D		No	ClinGen ExAC TOPMed gnomAD
CA391194283 rs1555440637	311	A>T		No	ClinGen gnomAD
CA391194297 rs1260574182	312	V>A		No	ClinGen TOPMed
rs977514520 CA391194293	312	V>I		No	ClinGen TOPMed gnomAD
rs977514520 CA266584923	312	V>L		No	ClinGen TOPMed gnomAD
CA391194316 rs200479980	314	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391194306 rs1555440641	314	A>T		No	ClinGen gnomAD
CA7391202 rs200479980	314	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391194331 rs1555440645	315	W>*		No	ClinGen gnomAD
rs782300782 CA7391204	316	R>Q		No	ClinGen ExAC gnomAD
rs957630414 CA266584924	316	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782587840 CA7391205	317	R>C		No	ClinGen ExAC TOPMed gnomAD
rs782201254 CA7391206	317	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1555440654 CA391194398	319	E>Q		No	ClinGen gnomAD
rs1555440657 CA391194410	319	E>V		No	ClinGen gnomAD
rs1567076184 CA616255935	320	L>P		No	ClinGen Ensembl
CA391194443 rs782356830	321	V>F		No	ClinGen ExAC gnomAD
CA391194440 rs782356830	321	V>I		No	ClinGen ExAC gnomAD
CA7391207 rs782356830	321	V>L		No	ClinGen ExAC gnomAD
TCGA novel	322	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144610042 CA266584957	322	F>V		No	ClinGen ESP TOPMed gnomAD
rs1338216078 CA391194507	323	W>C		No	ClinGen TOPMed
rs200060019 CA7391209	324	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374363839 CA7391208	324	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391194525 rs1595478654	325	W>G		No	ClinGen Ensembl
rs373766264 CA7391228	328	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1318421061 CA391194793	329	V>I		No	ClinGen TOPMed
rs138505168 CA7391230	330	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7391231 rs782380367	331	G>C		No	ClinGen ExAC TOPMed gnomAD
CA391194831 rs1175686672	331	G>D		No	ClinGen TOPMed
CA7391232 rs587735275	332	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA266585221 rs782061308	334	A>V		No	ClinGen Ensembl
rs782685957 CA7391234	335	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7391233 rs782151673	335	P>S		No	ClinGen ExAC gnomAD
rs868951715 CA391194942	336	E>*		No	ClinGen gnomAD
rs1555440753 CA391195016	338	P>L		No	ClinGen gnomAD
CA391195042 rs1555440755	339	A>V		No	ClinGen gnomAD
CA391195079 rs1168748721	340	A>V		No	ClinGen TOPMed
CA391195098 rs1475223387	341	A>S		No	ClinGen TOPMed
rs1555440763 CA391195162	342	S>L		No	ClinGen gnomAD
rs782062954 CA7391236	343	Q>R		No	ClinGen ExAC gnomAD
CA7391237 rs140430062	344	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	344	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7391238 rs150385054	344	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555440772 CA391195212	345	T>A		No	ClinGen gnomAD
CA391195259 rs1555440775	347	L>M		No	ClinGen gnomAD
rs1555440777 CA391195268	348	P>S		No	ClinGen gnomAD
CA391195313 rs1440836283	350	V>I		No	ClinGen TOPMed gnomAD
rs1567076631 CA391195327	351	P>A		No	ClinGen Ensembl
CA7391241 rs781881820	352	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199648972 CA7391242	353	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149522435 CA7391243	353	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555440795 CA391195389	354	G>E		No	ClinGen gnomAD
rs868920456 CA391195365	354	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	354	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391195378 rs868920456	354	G>W		No	ClinGen TOPMed gnomAD
rs1379998491 CA391195391	355	G>S		No	ClinGen TOPMed gnomAD
CA391195405 rs1555440797	355	G>V		No	ClinGen gnomAD
rs369626772 CA7391245	356	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA391195416 rs1555440800	356	G>V		No	ClinGen gnomAD
rs374594192 CA7391247	357	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1555440803 CA391195453	359	D>E		No	ClinGen gnomAD
rs1555440806 CA391195458	360	L>M		No	ClinGen gnomAD
TCGA novel	361	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782193976 CA266585277	362	V>M		No	ClinGen gnomAD
rs782038842 CA7391249 COSM3689914	363	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782433439 CA7391248	363	R>W		No	ClinGen ExAC TOPMed gnomAD
rs782808616 CA266585285	367	A>T		No	ClinGen gnomAD
rs369895322 CA7391251	367	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7391253 rs782093997	370	E>K		No	ClinGen ExAC TOPMed gnomAD
CA391195658 rs1567076732	371	E>*		No	ClinGen Ensembl
CA7391257 rs782145151	373	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs373497678 CA7391256	373	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA391195722 rs1555440833	374	E>Q		No	ClinGen gnomAD
CA391195779 rs1197219969	376	A>V		No	ClinGen TOPMed gnomAD
rs377013279 CA7391259	378	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs782475967 CA7391260	378	R>H		No	ClinGen ExAC TOPMed gnomAD
rs377013279 CA391195799	378	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1595479540 CA391195810	379	R>G		No	ClinGen Ensembl
CA266585377 rs1053366223	379	R>K		No	ClinGen TOPMed gnomAD
rs1011819628 CA266585380	380	R>L		No	ClinGen TOPMed gnomAD
CA391195847 rs1011819628	380	R>Q		No	ClinGen TOPMed gnomAD
rs200143862 CA7391261	380	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391195860 rs1555440853	381	A>T		No	ClinGen gnomAD
CA7391262 rs371407528	381	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1364975434 CA391195904	382	A>V		No	ClinGen TOPMed
TCGA novel	384	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA266585957 rs1052995533	387	A>G		No	ClinGen TOPMed gnomAD
rs1555440992 CA391196086	388	G>R		No	ClinGen gnomAD
rs1555440994 CA391196110	389	G>D		No	ClinGen gnomAD
CA391196097 rs1170572910	389	G>S		No	ClinGen TOPMed gnomAD
rs202031010 CA7391284	392	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7391283 rs782330051	392	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7391285 rs782175020	393	G>R		No	ClinGen ExAC gnomAD
rs1555441000 CA391196222	396	W>G		No	ClinGen gnomAD
rs1555441000 CA391196219	396	W>R		No	ClinGen gnomAD
rs1555441002 CA391196243	397	S>G		No	ClinGen gnomAD
CA391196245 rs1555441003	397	S>N		No	ClinGen gnomAD
CA7391286 rs113336000	398	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782458985 CA7391288	399	A>T		No	ClinGen ExAC TOPMed gnomAD
rs782021817 COSM1368708 CA7391289	399	A>V	large_intestine Variant assessed as Somatic; 6.448e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA391196302 rs370802481	400	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370802481 CA7391292	400	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7391291 rs367868489	400	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1228853506 CA391196315	401	R>Q		No	ClinGen TOPMed gnomAD
CA7391293 rs200842206	401	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782303260 CA7391294	402	A>V		No	ClinGen ExAC gnomAD
CA391196356 rs1555441012	403	S>F		No	ClinGen gnomAD
rs1555441011 CA391196343	403	S>P		No	ClinGen gnomAD
CA7391296 rs782228940	404	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7391295 rs368710205	404	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391196399 rs1555441016	405	E>D		No	ClinGen gnomAD
rs1441664279 CA391196382	405	E>Q		No	ClinGen TOPMed
CA391196401 rs1351335853	406	A>T		No	ClinGen TOPMed gnomAD
CA391196475 rs1555441019	409	K>E		No	ClinGen gnomAD
CA7391298 rs1310152324	410	E>G		No	ClinGen TOPMed
rs1555441021 CA391196512	410	E>K		No	ClinGen gnomAD
TCGA novel	411	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372669658 CA7391300	411	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA391196633 rs1555441023	415	Q>*		No	ClinGen gnomAD
rs782152844 CA7391302	416	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs948083230 CA266586031	418	W>G		No	ClinGen gnomAD
CA391196705 rs948083230	418	W>R		No	ClinGen gnomAD
rs367671262 CA7391303	419	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7391304 rs371492836	420	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371492836 CA7391305	420	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs587693244 CA391196757	420	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7391306 rs587693244	420	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782105553 CA7391308	422	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7391309 rs76619093	424	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782549197 CA7391312	425	A>V		No	ClinGen ExAC gnomAD
CA391196886 rs1329651925	426	Q>E		No	ClinGen TOPMed
CA266586098 rs782533597	427	P>S		No	ClinGen Ensembl
rs1290402308 CA391196914	428	H>R		No	ClinGen TOPMed
CA391196953 rs1567077355	430	P>L		No	ClinGen Ensembl
rs1011057618 CA266586102	431	H>R		No	ClinGen TOPMed gnomAD
CA391196958 rs1344899486	431	H>Y		No	ClinGen TOPMed
CA7391314 rs781805929	432	R>Q		No	ClinGen ExAC gnomAD
CA7391313 rs369370157	432	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs782643867 CA7391316	434	V>G		No	ClinGen ExAC gnomAD
CA7391317 rs782261461	436	R>*		No	ClinGen ExAC TOPMed gnomAD
rs782261461 CA266586136	436	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7391318 rs34137879	436	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555441051 CA391197035	438	D>G		No	ClinGen gnomAD
CA7391319 rs782688538	439	G>E		No	ClinGen ExAC gnomAD
CA391197061 rs1555441056	441	A>S		No	ClinGen gnomAD
CA391197078 rs1555441060	442	G>V		No	ClinGen gnomAD
CA391197080 rs1555441061	443	D>N		No	ClinGen gnomAD
CA7391321 rs587670728	443	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7391327 rs781999003	444	R>L		No	ClinGen ExAC gnomAD
CA7391326 rs781999003	444	R>P		No	ClinGen ExAC gnomAD
CA7391325 rs781999003	444	R>Q		No	ClinGen ExAC gnomAD
rs200624465 CA7391323	444	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7391328 rs781918053	445	D>G		No	ClinGen ExAC gnomAD
rs1555441073 CA391197104	445	D>Y		No	ClinGen gnomAD
CA391197129 rs201620460	447	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7391332 rs201620460	447	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7391331 rs147462508	447	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs782790474 CA7391333	448	A>P		No	ClinGen ExAC gnomAD
rs1595480916 CA391197141	449	A>S		No	ClinGen Ensembl
CA7391335 rs782437210	450	V>A		No	ClinGen ExAC gnomAD
rs376423697 CA391197150	450	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376423697 CA7391334	450	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs782590162 CA7391336	453	R>G		No	ClinGen ExAC gnomAD
TCGA novel	453	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139837113 CA7391338	454	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs782250848 CA7391340	456	R>G		No	ClinGen ExAC TOPMed
CA391197190 rs1270088884	457	S>G		No	ClinGen TOPMed
CA391197196 rs1555441096	457	S>R		No	ClinGen gnomAD
CA7391342 rs369976314	458	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA391197197 rs369976314	458	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7391343 rs142782649	458	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782327514 CA7391344	461	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	462	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373427074 CA7391346	464	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA391197243 rs1358206147	465	V>L		No	ClinGen TOPMed gnomAD
CA266586267 rs928005781	466	L>V		No	ClinGen TOPMed
CA7391348 rs150700739	467	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7391349 rs200916915	467	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7391350 rs139986633	468	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7391351 rs34156999	468	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1130308 CA266586313	471	G>A		No	ClinGen ExAC gnomAD
rs1130308 CA7391352	471	G>E		No	ClinGen ExAC gnomAD
rs1555441135 CA391197303	471	G>R		No	ClinGen gnomAD
CA391197313 rs1555441141	472	Q>*		No	ClinGen gnomAD
rs782752312 CA7391353	472	Q>R		No	ClinGen ExAC gnomAD
CA7391354 rs587610951	473	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs370166565 CA7391356	474	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117715376 CA7391355	474	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1555441145 CA391197384	477	L>V		No	ClinGen gnomAD
CA391197402 rs1212552148	479	R>M		No	ClinGen TOPMed
rs1229710939 CA391197429	481	V>A		No	ClinGen TOPMed gnomAD
CA7391358 rs782429089	481	V>M		No	ClinGen ExAC TOPMed gnomAD
CA391197450 rs1555441149	483	A>V		No	ClinGen gnomAD
CA7391360 rs140908263	484	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782358864 CA7391361	484	R>H		No	ClinGen ExAC gnomAD
rs782358864 CA7391362	484	R>P		No	ClinGen ExAC gnomAD
rs782423488 CA7391364	485	P>L		No	ClinGen ExAC gnomAD
CA391197466 rs1380403999	485	P>S		No	ClinGen TOPMed
rs1039464393 CA266586400	486	G>S		No	ClinGen Ensembl
rs782342763 CA7391368	488	I>M		No	ClinGen ExAC gnomAD
CA391197513 rs1352194035	489	W>R		No	ClinGen TOPMed
CA266586405 rs900877348	490	I>T		No	ClinGen Ensembl
rs143242009 CA7391370	491	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391197546 rs1167410634	491	P>S		No	ClinGen TOPMed
CA7391372 rs781880196	492	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1555441164 CA391197564	493	P>R		No	ClinGen gnomAD
CA391197557 rs1555441162	493	P>T		No	ClinGen gnomAD
CA391197573 rs782700947	494	G>A		No	ClinGen ExAC gnomAD
rs782700947 CA7391374	494	G>V		No	ClinGen ExAC gnomAD
rs782697723 CA7391376	495	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7391377 rs782608215	495	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	496	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782536735 CA7391379	496	R>R		No	ClinGen ExAC gnomAD
rs371734454 CA7391381	496	R>W		No	ClinGen 1000Genomes ExAC TOPMed

No associated diseases with Q86SX3

1 regional properties for Q86SX3

Type	Name	Position	InterPro Accession
domain	Telomere length regulation protein, conserved domain	434 - 546	IPR019337

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
centriole	A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
positive regulation of smoothened signaling pathway	Any process that activates or increases the frequency, rate or extent of smoothened signaling.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3UK37	Tedc1	Tubulin epsilon and delta complex protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGRRRQRVDP	AAGARAGALP	EAIAALSRSL	PSGPSPEIFR	RAKFDRPEAT	SALWQLLFRV
70	80	90	100	110	120
LSPLPAGNAL	ASLALEVQAR	LVKSALCSQG	YPRLALAQLP	EDGSQGSREL	LLALSWLLAR
130	140	150	160	170	180
GPVPEQMLAQ	ARVPLGDEMT	VCQCEALASP	GPPAPHMEAE	GPVDVRHVQW	LMGKLRFRWR
190	200	210	220	230	240
QLVSSQQEQC	ALLSKIHLYT	RGCHSDQSLS	HLSVTEAEML	RDPEGGQQVS	GAGAAQNLDL
250	260	270	280	290	300
AYPKCLHSFC	TPGMGPRTFW	NDLWLVCEQP	GLLPGDWAAP	LDPGGASACS	LLSPFRALLR
310	320	330	340	350	360
TLERENQRLE	AVLAWRRSEL	VFWRWMDTVL	GTCAPEVPAA	ASQPTFLPWV	PERGGGELDL
370	380	390	400	410	420
VVRELQALEE	ELREAAERRR	AAWEAKAGGC	GRGPEWSAAR	RASREAVEKE	LGALQQCWER
430	440	450	460	470	480
DGGPAQPHGP	HRLVRREDGA	AGDRDLRAAV	VIRTLRSQEA	CLEAVLRRLQ	GQCRQELARL
490
VGARPGLIWI	PPPGR