AiPD: Autoinhibited Protein Database

Q08AE8

Gene name	SPIRE1
Protein name	Protein spire homolog 1
Names	Spir-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56907
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

427-502 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

427-502 (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 Q08AE8

Entry ID	Method	Resolution	Chain	Position	Source
2YLE	X-ray	180 A	A	36-236	PDB
2YLF	X-ray	205 A	A	36-236	PDB
3R7G	X-ray	220 A	A	20-237	PDB
3RBW	X-ray	320 A	A/B/C/D	20-237	PDB
AF-Q08AE8-F1	Predicted				AlphaFoldDB

537 variants for Q08AE8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA402034285 rs1176401134	2	A>G		No	ClinGen TOPMed
rs1434182013 CA402034292	2	A>S		No	ClinGen gnomAD
rs1165104409 CA402034272	3	Q>L		No	ClinGen TOPMed
rs577954522 CA296719333	4	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA402034255 rs1190357789	5	A>T		No	ClinGen gnomAD
CA402034248 rs1450034683	5	A>V		No	ClinGen gnomAD
rs1373897970 CA402034230	7	P>L		No	ClinGen TOPMed gnomAD
CA402034201 rs1399938591	10	G>S		No	ClinGen TOPMed
CA296719329 rs1028221853	12	E>G		No	ClinGen Ensembl
CA402034154 rs1413867598	13	P>Q		No	ClinGen TOPMed
rs1309847027 CA402034152	14	R>G		No	ClinGen TOPMed gnomAD
CA402034099 rs1235476372	18	V>A		No	ClinGen TOPMed
rs1443967327 CA402034042	24	R>Q		No	ClinGen TOPMed gnomAD
CA402034014 rs1278885340	26	P>L		No	ClinGen gnomAD
CA402034009 rs903765857	27	G>E		No	ClinGen TOPMed gnomAD
CA402034011 rs1345042382	27	G>R		No	ClinGen gnomAD
CA296719306 rs903765857	27	G>V		No	ClinGen TOPMed gnomAD
rs1340712409 CA402034003	28	A>T		No	ClinGen gnomAD
rs745917007 CA8897661	30	G>S		No	ClinGen ExAC gnomAD
rs781731879 CA8897660	30	G>V		No	ClinGen ExAC gnomAD
rs757660833 CA8897659	31	G>S		No	ClinGen ExAC gnomAD
rs1373665920 CA402033948	32	A>V		No	ClinGen gnomAD
rs1200319246 CA402033933	34	G>E		No	ClinGen TOPMed
CA402033938 rs945013679 CA296719269	34	G>R		No	ClinGen TOPMed gnomAD
rs1375448393 CA402033919	35	G>D		No	ClinGen TOPMed
TCGA novel	36	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416253787 CA402033913	36	S>T		No	ClinGen Ensembl
CA402033891 rs1166156051	38	D>G		No	ClinGen TOPMed gnomAD
rs1171298904 CA402033894	38	D>H		No	ClinGen TOPMed
CA402033812 rs1237851354	44	E>D		No	ClinGen TOPMed gnomAD
rs1306459644 CA402033796	47	R>Q		No	ClinGen TOPMed gnomAD
CA402033797 rs1205227587	47	R>W		No	ClinGen gnomAD
rs1280633801 CA402033787	49	Y>H		No	ClinGen TOPMed
CA296719245 rs926371888	51	Q>K		No	ClinGen TOPMed
rs1058321 CA296719243	52	P>S		No	ClinGen Ensembl
CA8897654 rs758748447	53	I>V		No	ClinGen ExAC gnomAD
CA402033744 rs1232846487	55	E>*		No	ClinGen gnomAD
rs980922723 CA296719237	56	E>D		No	ClinGen TOPMed gnomAD
rs1353769261 CA402033735	56	E>G		No	ClinGen gnomAD
rs1488573691 CA402033718	58	A>V		No	ClinGen TOPMed
rs1354068841 CA402033702	61	V>M		No	ClinGen gnomAD
TCGA novel	63	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598595472 CA402033676	64	Q>R		No	ClinGen Ensembl
CA402033651 rs1326702893	67	G>D		No	ClinGen gnomAD
CA402033652 rs1326702893	67	G>V		No	ClinGen gnomAD
CA402033646 rs910125954	68	S>C		No	ClinGen TOPMed gnomAD
CA296719210 rs910125954	68	S>F		No	ClinGen TOPMed gnomAD
CA402033647 rs910125954	68	S>Y		No	ClinGen TOPMed gnomAD
CA402033640 rs1418257408	70	R>C		No	ClinGen gnomAD
rs1163975590 CA402033637	70	R>H		No	ClinGen gnomAD
rs1163975590 CA402033636	70	R>P		No	ClinGen gnomAD
CA402033632 rs1474131871	71	A>S		No	ClinGen gnomAD
CA402033629 rs1413671954	71	A>V		No	ClinGen gnomAD
CA402033614 rs1177498008	74	R>C		No	ClinGen gnomAD
rs1180724278 CA402033612	74	R>P		No	ClinGen gnomAD
rs574335743 CA296719201	75	R>G		No	ClinGen 1000Genomes
rs182090603 CA8897651	78	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1213420047 CA402033582	79	R>H		No	ClinGen gnomAD
rs1274401523 CA402033586	79	R>S		No	ClinGen TOPMed gnomAD
rs753247959 CA8897650	80	H>Q		No	ClinGen ExAC gnomAD
CA402033578 rs1333230668	80	H>Y		No	ClinGen gnomAD
rs998606007 CA296719185	81	R>G		No	ClinGen TOPMed gnomAD
rs1400668462 CA402033558	83	R>P		No	ClinGen TOPMed
rs1313807508 CA402033521	89	R>C		No	ClinGen TOPMed
CA402033495 rs1243148654	93	D>N		No	ClinGen TOPMed
rs1256859197 CA402033428	103	D>E		No	ClinGen TOPMed
rs1598595222 CA402033433	103	D>H		No	ClinGen Ensembl
rs1598595195 CA402033422	104	D>A		No	ClinGen Ensembl
rs1425320641 CA402033426	104	D>N		No	ClinGen TOPMed
CA402033424 rs1425320641	104	D>Y		No	ClinGen TOPMed
rs1030343259 CA296719166	105	A>G		No	ClinGen TOPMed gnomAD
CA402033403 rs1277887715	107	E>G		No	ClinGen gnomAD
rs1420569174 CA402033397	108	P>S		No	ClinGen TOPMed
rs1358714596 CA402033375	112	A>P		No	ClinGen TOPMed
CA402033366 rs1419251495	112	A>V		No	ClinGen TOPMed
rs1282484066 CA402031874	117	Y>C		No	ClinGen TOPMed gnomAD
CA296706300 rs1041499104	118	S>A		No	ClinGen TOPMed
rs781062636 CA8897641	120	C>Y		No	ClinGen ExAC gnomAD
CA402031827 rs1302575163	121	M>V		No	ClinGen TOPMed gnomAD
rs895986706 CA296706294	124	E>A		No	ClinGen TOPMed
rs895986706 CA402031802	124	E>G		No	ClinGen TOPMed
CA402031804 rs1438645684	124	E>Q		No	ClinGen gnomAD
CA402031743 rs1192976960	125	V>D		No	ClinGen TOPMed
rs1487368943 CA402031746	125	V>I		No	ClinGen TOPMed
rs754522024 CA8897634	126	I>T		No	ClinGen ExAC gnomAD
rs753403640 CA8897633	128	S>F		No	ClinGen ExAC gnomAD
TCGA novel	128	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8897631 rs765865347	136	A>T		No	ClinGen ExAC gnomAD
rs760230999 CA8897630	136	A>V		No	ClinGen ExAC gnomAD
CA8897629 rs750371630	139	Y>C		No	ClinGen ExAC gnomAD
CA402031631 rs1431159025	142	K>R		No	ClinGen gnomAD
TCGA novel	145	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201594816 CA296678986	146	E>K		No	ClinGen 1000Genomes
TCGA novel	148	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402031573 rs1171813837	150	S>R		No	ClinGen gnomAD
CA8897628 rs550163360	151	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8897627 rs761726469	152	P>S		No	ClinGen ExAC gnomAD
rs1454578048 CA402031527	157	I>V		No	ClinGen TOPMed
TCGA novel	158	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8897624 rs776896071	159	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA402031501 rs1208774620	160	M>T		No	ClinGen gnomAD
rs747079005 CA8897621	161	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8897622 rs770981432	161	A>T		No	ClinGen ExAC TOPMed
CA402031491 rs1251800238	162	N>D		No	ClinGen gnomAD
rs1356087475 CA402031488	162	N>S		No	ClinGen TOPMed
rs1226616758 CA402031483	163	T>A		No	ClinGen TOPMed gnomAD
rs773757114 CA8897620	163	T>M	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8897617 rs779190933	164	V>A		No	ClinGen ExAC gnomAD
rs755358176 CA8897616	165	E>K		No	ClinGen ExAC gnomAD
rs779727504 CA8897614	168	G>S		No	ClinGen ExAC TOPMed gnomAD
rs755631259 CA8897613	169	S>N		No	ClinGen ExAC gnomAD
CA402031426 rs1180638691	171	D>E		No	ClinGen TOPMed
rs762194492 CA8897611	171	D>H		No	ClinGen ExAC TOPMed gnomAD
rs757190097 CA402031419	172	E>D		No	ClinGen ExAC gnomAD
rs774988828 CA296678980	172	E>K		No	ClinGen Ensembl
rs1167583237 CA402031421	172	E>V		No	ClinGen gnomAD
CA402031418 rs1567923992	173	G>S		No	ClinGen Ensembl
rs762801914 CA8897607	174	Y>C		No	ClinGen ExAC gnomAD
CA402031409 rs762801914	174	Y>F		No	ClinGen ExAC gnomAD
rs764035519 CA8897608	174	Y>H		No	ClinGen ExAC gnomAD
rs776757245 CA8897606	180	G>D		No	ClinGen ExAC
TCGA novel	182	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479629203 CA402031350	183	D>G		No	ClinGen gnomAD
CA8897603 rs371127508	185	D>G		No	ClinGen ESP ExAC gnomAD
CA296678976 rs774265265	185	D>N		No	ClinGen Ensembl
CA402031332 rs1420083810	186	E>K		No	ClinGen TOPMed
TCGA novel	187	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598456491 CA402031320	187	K>R		No	ClinGen Ensembl
rs143141455 CA8897601	190	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402031296 rs1291043217	190	I>M		No	ClinGen gnomAD
CA8897600 rs748714026	191	S>A		No	ClinGen ExAC
rs150085674 CA8897598	194	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8897597 COSM986646 rs150085674	194	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs774837450 CA8897599	194	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745372632 CA8897594	195	S>L		No	ClinGen ExAC gnomAD
CA296678972 rs141634147	196	Y>C		No	ClinGen ESP TOPMed
rs1301050963 CA402031263	197	R>G		No	ClinGen TOPMed
CA296678969 rs373117533	198	D>Y		No	ClinGen ESP TOPMed
CA296678966 rs937314160	199	V>A		No	ClinGen TOPMed
rs927387609 CA296678963	200	M>I		No	ClinGen TOPMed
CA8897592 rs756810674	200	M>T		No	ClinGen ExAC gnomAD
CA402031244 rs1462280644	200	M>V		No	ClinGen gnomAD
rs1162968096 CA402031237	201	K>Q		No	ClinGen gnomAD
rs891029600 CA296677087	206	H>P		No	ClinGen gnomAD
rs777593287 CA8897568	206	H>Q		No	ClinGen ExAC gnomAD
rs891029600 CA296677086	206	H>R		No	ClinGen gnomAD
CA8897567 rs138454017	208	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8897566 rs752448604	208	P>L		No	ClinGen ExAC
rs754764903 CA8897565	209	T>A		No	ClinGen ExAC gnomAD
rs754764903 CA8897564	209	T>S		No	ClinGen ExAC gnomAD
rs1327449411 CA402030740	210	E>Q		No	ClinGen gnomAD
CA8897562 rs751621843 CA8897561	212	D>E		No	ClinGen ExAC gnomAD
rs1567916218 CA402030715	213	A>G		No	ClinGen Ensembl
TCGA novel	213	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567916218 CA402030714	213	A>V		No	ClinGen Ensembl
rs1398389833 CA402030710	214	P>R		No	ClinGen gnomAD
CA402030712 rs1274193993	214	P>T		No	ClinGen TOPMed
rs764517052 CA8897558	215	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1567916199 CA402030695	216	H>R		No	ClinGen Ensembl
rs1362508328 CA402030698	216	H>Y		No	ClinGen TOPMed
rs779625456 CA402030690	217	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8897557 rs775844543	217	Y>D		No	ClinGen ExAC gnomAD
CA8897555 rs779625456	217	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs775844543 CA8897556	217	Y>H		No	ClinGen ExAC gnomAD
rs1169632920 CA402030685	218	Q>*		No	ClinGen gnomAD
rs1464325739 CA402030683	218	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	219	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296677085 rs989881338	221	C>S		No	ClinGen TOPMed
CA8897553 rs776470145	222	R>C		No	ClinGen ExAC gnomAD
CA8897552 rs770657469 COSM986644	222	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA296677084 rs866401699	224	L>P		No	ClinGen Ensembl
CA8897551 COSM1227391 rs746548516 CA402030640	225	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	227	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402030614 rs1257846808	229	M>I		No	ClinGen gnomAD
rs935750522 CA296677083	229	M>V		No	ClinGen Ensembl
rs907725782 CA296677082	231	L>R		No	ClinGen TOPMed
rs1354304790 CA402030596	232	H>R		No	ClinGen gnomAD
rs777270037 CA8897550	232	H>Y		No	ClinGen ExAC gnomAD
CA296677081 rs868318456	233	T>R		No	ClinGen Ensembl
CA8897548 rs200159648	237	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA296677080 rs374657090	238	I>T		No	ClinGen ESP TOPMed
rs778685964 CA8897547	239	K>Q		No	ClinGen ExAC gnomAD
CA402030544 rs1270012971	240	S>N		No	ClinGen gnomAD
rs371325728 CA296677079	241	A>T		No	ClinGen ESP
COSM181045 rs754818224 CA8897546	241	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8897544 rs781426997	243	E>K		No	ClinGen ExAC gnomAD
rs1260342476 CA401958236	249	Q>*		No	ClinGen TOPMed
TCGA novel	249	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_058695 CA8897531 rs1785296	249	Q>P		No	ClinGen UniProt ExAC dbSNP gnomAD
CA296722312 rs145908253	250	E>Q		No	ClinGen ESP TOPMed
rs550436527 CA8897530	251	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1462806621 CA401958185	253	K>E		No	ClinGen gnomAD
rs768537942 CA8897529	254	S>N		No	ClinGen ExAC gnomAD
CA401958159 rs749083073	254	S>R		No	ClinGen ExAC TOPMed gnomAD
rs779762941 CA8897527	255	D>H		No	ClinGen ExAC TOPMed gnomAD
rs779762941 CA296722277	255	D>N		No	ClinGen ExAC TOPMed gnomAD
rs984357192 CA296722263	256	E>G		No	ClinGen TOPMed
rs755894289 CA8897526	256	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs924421652 CA296722261	258	S>G		No	ClinGen Ensembl
CA401958114 rs1177255129	258	S>I		No	ClinGen TOPMed gnomAD
rs1400455999 CA401958107	259	T>A		No	ClinGen TOPMed
rs758557092 CA8897523	265	K>E		No	ClinGen ExAC TOPMed gnomAD
CA296722242 rs765878117	266	N>K		No	ClinGen ExAC TOPMed gnomAD
rs752673186 CA8897522	266	N>S		No	ClinGen ExAC gnomAD
rs550038562 CA8897520	269	W>R		No	ClinGen ExAC TOPMed gnomAD
COSM986640 rs1289032823 CA401957446	271	R>*	endometrium haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8897502 rs754436637	271	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA296717899 rs868807029	275	Q>R		No	ClinGen Ensembl
rs1339658856 COSM372879 CA401957364	277	M>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	278	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8897500 rs756522541	279	D>N		No	ClinGen ExAC gnomAD
CA401957331 rs756522541	279	D>Y		No	ClinGen ExAC gnomAD
rs1434839887 CA401957287	282	N>S		No	ClinGen gnomAD
CA401957264 rs1396203732	284	V>L		No	ClinGen gnomAD
CA401957241 rs1431745514	286	L>I		No	ClinGen gnomAD
rs374845625 CA8897498	288	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA296717867 rs1008797614	289	V>D		No	ClinGen TOPMed
TCGA novel	290	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8897496 rs761310883	291	E>K		No	ClinGen ExAC gnomAD
CA8897494 rs140647765	292	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8897495 rs751195668	292	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA296717828 rs146843168	293	Q>R		No	ClinGen ESP
CA401957177 rs1207959244	294	Y>C		No	ClinGen gnomAD
CA296717824 rs80049209	294	Y>D		No	ClinGen Ensembl
CA401957160 rs1368368517	296	P>L		No	ClinGen Ensembl
CA401957154 rs1296050354	297	L>F		No	ClinGen TOPMed gnomAD
rs762422307 CA8897493	297	L>V		No	ClinGen ExAC gnomAD
rs1213823247 CA401957117	302	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	303	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	309	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401957052 rs1374333950	311	D>A		No	ClinGen TOPMed gnomAD
rs1374333950 CA401957053	311	D>G		No	ClinGen TOPMed gnomAD
CA8897489 rs776223347	314	R>C		No	ClinGen ExAC gnomAD
CA401957032 rs372489121 COSM212257	314	R>H	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8897488 rs372489121	314	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs776223347 CA401957034	314	R>S		No	ClinGen ExAC gnomAD
rs1205879630 CA401956994	319	T>I		No	ClinGen TOPMed gnomAD
CA401956986 rs1190410060	321	R>*		No	ClinGen gnomAD
CA401956985 rs1190410060	321	R>G		No	ClinGen gnomAD
CA8897485 rs768905374	321	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8897483 rs780736790	322	K>E		No	ClinGen ExAC gnomAD
CA296717755 rs866943184	324	M>I		No	ClinGen Ensembl
rs1567890376 CA401956635	326	N>S		No	ClinGen Ensembl
CA401956621 rs1448232773	328	D>G		No	ClinGen TOPMed
rs1456227307 CA401956611	329	I>M		No	ClinGen TOPMed gnomAD
CA401956605 rs1254691182	330	P>L		No	ClinGen gnomAD
rs776618837 CA8897470	331	P>A		No	ClinGen ExAC gnomAD
rs1355184124 CA401956600	331	P>L		No	ClinGen gnomAD
CA8897469 rs770699341	332	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA401956598 rs1409888147	332	R>W		No	ClinGen gnomAD
CA296710663 rs1001530459	335	K>E		No	ClinGen TOPMed
TCGA novel	336	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401956556 rs1383808082	338	H>R		No	ClinGen TOPMed
CA296710657 rs781474266	338	H>Y		No	ClinGen gnomAD
CA8897468 rs760523745	340	I>V		No	ClinGen ExAC TOPMed gnomAD
CA401956509 rs1399097591	345	I>V		No	ClinGen TOPMed
CA8897466 rs768958282	346	R>S		No	ClinGen ExAC gnomAD
rs1567890239 CA401956492	347	S>F		No	ClinGen Ensembl
CA401956490 rs1375102311	348	R>G		No	ClinGen gnomAD
CA8897465 rs749380572	349	P>H		No	ClinGen ExAC TOPMed gnomAD
CA296710609 rs897119549	349	P>T		No	ClinGen TOPMed
rs1161748131	353	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA401956456 rs1390276477 COSM986634	353	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8897441 rs778055659	354	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1213814474 CA401956426	356	A>T		No	ClinGen gnomAD
TCGA novel	357	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598929251 CA401956387	362	T>P		No	ClinGen Ensembl
rs753346539 CA8897436	365	R>Q		No	ClinGen ExAC gnomAD
rs754467228 CA8897437	365	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM473622 rs756055132 CA8897434	367	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM986632 rs149161859 CA8897435	367	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA401956356 rs1398224053	368	S>G		No	ClinGen gnomAD
CA8897433 rs750370757	369	L>F		No	ClinGen ExAC gnomAD
rs975088552 CA401956341	370	H>P		No	ClinGen gnomAD
rs975088552 CA296708777	370	H>R		No	ClinGen gnomAD
CA296708774 rs989657179	375	E>G		No	ClinGen TOPMed gnomAD
rs1399739601 CA401956285	378	K>E		No	ClinGen gnomAD
CA296708773 rs543924604	379	A>G		No	ClinGen 1000Genomes
CA401956271 rs1452014282	380	E>K		No	ClinGen TOPMed
CA401956261 rs1215448114	381	R>I		No	ClinGen TOPMed
CA296708772 rs145251926	382	K>Q		No	ClinGen ESP
CA401956246 rs1453744342	384	R>G		No	ClinGen TOPMed
rs1475654330 COSM1387806 CA401956242	384	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA401956245 rs1453744342	384	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA401956237 rs1188575260	385	P>R		No	ClinGen TOPMed
TCGA novel	385	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs958540656 CA296708766	388	P>S		No	ClinGen TOPMed gnomAD
rs958540656 CA401956223	388	P>T		No	ClinGen TOPMed gnomAD
rs373732654 CA8897430	390	E>K		No	ClinGen ESP ExAC gnomAD
rs1167027599 CA401956201	391	I>F		No	ClinGen TOPMed
CA8897429 rs200831129	391	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA401956192 rs1277182058	392	R>S		No	ClinGen gnomAD
rs759567988 CA8897428	393	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8897427 rs776709366	393	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8897426 rs771442936	394	S>R		No	ClinGen ExAC gnomAD
rs1598928965 CA401956177	395	R>K		No	ClinGen Ensembl
CA8897416 rs537619139	398	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8897415 rs750421889	399	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs986951875 CA296704549	399	R>W		No	ClinGen TOPMed gnomAD
rs570308083 CA296704506	400	P>A		No	ClinGen 1000Genomes
TCGA novel	402	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401956114 rs1354343270	403	M>T		No	ClinGen gnomAD
rs542522454 CA296704491	403	M>V		No	ClinGen Ensembl
rs186520265 CA296704486	407	F>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA8897413 rs757027841	408	D>H		No	ClinGen ExAC gnomAD
rs757027841 CA401956079	408	D>Y		No	ClinGen ExAC gnomAD
CA401956062 rs1375824103	410	S>*		No	ClinGen gnomAD
CA401956043 rs1269122587	411	D>V		No	ClinGen TOPMed gnomAD
CA401956036 rs1210996806	412	V>A		No	ClinGen TOPMed gnomAD
rs781566607 CA296700532	412	V>M		No	ClinGen gnomAD
CA401956034 rs1433876469	413	T>A		No	ClinGen gnomAD
TCGA novel	414	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8897400 rs749034440	415	P>A		No	ClinGen ExAC
rs139892928 CA401956020	415	P>L		No	ClinGen 1000Genomes ExAC TOPMed
rs139892928 CA8897398	415	P>R		No	ClinGen 1000Genomes ExAC TOPMed
rs1568197274 CA401956017	416	E>Q		No	ClinGen Ensembl
rs745325731 CA8897395	418	T>I		No	ClinGen ExAC gnomAD
rs1424232862 CA401955999	419	K>E		No	ClinGen TOPMed
rs1327628646 CA401955980	421	L>P		No	ClinGen gnomAD
CA8897392 rs371381885	422	V>A		No	ClinGen ESP ExAC gnomAD
CA8897393 rs757153948	422	V>M		No	ClinGen ExAC gnomAD
rs758124936 CA8897390	425	S>F		No	ClinGen ExAC gnomAD
rs766566442 CA8897388	426	M>T		No	ClinGen ExAC TOPMed gnomAD
COSM1303580 CA8897389 rs754100028	426	M>V	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA401955948 rs1217419011	427	V>L		No	ClinGen gnomAD
CA401955925 rs1316468199	430	G>D		No	ClinGen TOPMed
CA401955920 rs1312505370	431	L>S		No	ClinGen TOPMed gnomAD
rs1312505370 CA401955919	431	L>W		No	ClinGen TOPMed gnomAD
CA8897386 rs750435725	435	T>K		No	ClinGen ExAC gnomAD
rs147805118 CA8897385	438	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769102563 CA401955865	439	G>A		No	ClinGen ExAC gnomAD
CA8897382 rs769102563	439	G>E		No	ClinGen ExAC gnomAD
CA8897383 rs199808412	439	G>R		No	ClinGen ExAC gnomAD
rs763201855 CA8897381	441	S>N		No	ClinGen ExAC gnomAD
rs775301411 CA8897380	443	S>L		No	ClinGen ExAC gnomAD
rs745380777 CA8897378	445	Q>*		No	ClinGen ExAC gnomAD
CA401955827 rs1214009277	445	Q>R		No	ClinGen TOPMed
CA296700354 rs952920901	447	P>A		No	ClinGen TOPMed
CA296700350 rs952920901	447	P>S		No	ClinGen TOPMed
rs1320907283 CA401955805	449	Q>*		No	ClinGen gnomAD
CA296700328 rs373281197	450	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8897376 rs770337498	450	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8897377 COSM1630502 rs373281197	450	R>W	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8897375 rs747036091	452	K>Q		No	ClinGen ExAC gnomAD
COSM986630 rs758262450 CA8897373	458	T>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs376885798 CA8897372	458	T>S		No	ClinGen ESP ExAC gnomAD
rs540407248 CA8897370	461	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs767699837 CA8897368	468	E>K		No	ClinGen ExAC gnomAD
rs1295574292 CA401952661	471	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs139795292 CA8897350	471	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1040018108 CA296730182	472	L>P		No	ClinGen TOPMed gnomAD
CA8897347 rs757378537	473	H>R		No	ClinGen ExAC gnomAD
CA8897348 rs576388162	473	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA401952630 rs371987064	474	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8897346 rs371987064	474	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8897345 rs764669806	475	S>*		No	ClinGen ExAC gnomAD
rs1038517495 CA296730170	475	S>A		No	ClinGen Ensembl
rs764669806 CA401952608	475	S>L		No	ClinGen ExAC gnomAD
CA296730165 rs941501727	476	T>A		No	ClinGen gnomAD
CA8897340 rs776394887	481	V>L		No	ClinGen ExAC TOPMed gnomAD
rs776394887 CA401952538	481	V>M		No	ClinGen ExAC TOPMed gnomAD
rs765900275 CA8897339	482	S>C		No	ClinGen ExAC gnomAD
CA401952511 rs1185581780	483	P>L		No	ClinGen TOPMed
CA401952502 rs1356435489	484	S>C		No	ClinGen gnomAD
CA401952431 rs1436990032	489	P>L		No	ClinGen gnomAD
TCGA novel	490	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8897338 rs760264057	492	E>G		No	ClinGen ExAC gnomAD
CA401952410 rs1442607116	492	E>Q		No	ClinGen TOPMed
rs772537931 CA8897337	494	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	495	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8897336 rs368087838 COSM986631	496	T>A	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368087838 CA8897335	496	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs774239351 CA8897334	497	R>G		No	ClinGen ExAC gnomAD
CA401952354 rs1286631999	497	R>K		No	ClinGen TOPMed
rs200544551 CA8897333	499	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150770551 CA296729359	501	P>A		No	ClinGen ESP TOPMed gnomAD
rs536296853 CA8897322	502	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8897321 rs760301518	502	K>N		No	ClinGen ExAC gnomAD
CA401952208 rs1598894824	503	F>S		No	ClinGen Ensembl
TCGA novel	505	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401952177 rs1195400769	506	I>V		No	ClinGen gnomAD
CA401952152 rs1598894790	508	S>P		No	ClinGen Ensembl
CA401952127 rs1261880990	510	P>S		No	ClinGen gnomAD
CA401952073 rs1469867163	514	R>K		No	ClinGen TOPMed
CA296729334 rs761287322	515	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8897317 rs774290131	515	R>Q		No	ClinGen ExAC gnomAD
CA8897318 rs761287322	515	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769619906 CA8897313	519	Q>H		No	ClinGen ExAC gnomAD
rs775092182 CA8897314	519	Q>P		No	ClinGen ExAC gnomAD
rs775092182 CA401952017	519	Q>R		No	ClinGen ExAC gnomAD
CA8897312 rs747265516	521	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1564101 CA8897311 rs141286455	528	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368599511 CA8897309	530	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs779597266 CA401951858	531	N>K		No	ClinGen ExAC TOPMed gnomAD
CA8897307 rs368399127	532	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368399127 CA8897306	532	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8897303 rs565777271	537	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8897304 rs565777271	537	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401951772 rs1422540927	539	S>P		No	ClinGen gnomAD
rs1167907444 CA401951724	542	S>T		No	ClinGen TOPMed gnomAD
rs370674022 CA296729250	543	S>C		No	ClinGen ESP gnomAD
CA401951704 rs1251620609	544	R>C		No	ClinGen TOPMed
rs761342289 CA8897301	544	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401950372 rs1371300389	550	C>Y		No	ClinGen TOPMed gnomAD
CA8897280 rs751203620	551	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1453349558 CA401950342	552	P>A		No	ClinGen gnomAD
CA8897278 rs369979810	557	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA401950197 rs1300733441	560	V>L		No	ClinGen TOPMed
CA401950084 rs1277359881	564	M>I		No	ClinGen gnomAD
rs1375897156 CA401950089	564	M>T		No	ClinGen gnomAD
COSM986626 CA8897276 rs765173503	567	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM1227389 rs534205788 CA8897275	567	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA
rs980566817 CA296723444	569	V>A		No	ClinGen TOPMed
rs1275526585 CA401949903	571	V>A		No	ClinGen TOPMed
rs148627675 CA8897273	579	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8897271 rs762192188	581	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8897272 COSM1611066 rs767867444	581	Y>N	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs774681820 CA8897270	584	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1479117993 CA401949577	586	T>A		No	ClinGen gnomAD
CA8897267 rs149450365	587	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401949547 rs149450365	587	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1489882802 CA401949533	587	A>V		No	ClinGen gnomAD
rs1288001940 CA401949503	589	K>R		No	ClinGen gnomAD
rs1217276046 CA401949491	590	K>E		No	ClinGen gnomAD
TCGA novel	591	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401949338 rs1192768204	593	L>H		No	ClinGen TOPMed
CA401949300 rs1360134937	596	C>R		No	ClinGen gnomAD
TCGA novel	596	C>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468404244 CA401949260	598	R>Q		No	ClinGen TOPMed gnomAD
CA296722344 rs1016273856	600	R>K		No	ClinGen TOPMed
rs1400876369 CA401949228	601	R>K		No	ClinGen TOPMed
rs760104114 CA8897243	601	R>S		No	ClinGen ExAC gnomAD
CA401949185 rs1171457031	604	F>Y		No	ClinGen gnomAD
CA401949156 rs1399942327	606	T>A		No	ClinGen TOPMed
rs1399942327 CA401949154	606	T>S		No	ClinGen TOPMed
rs777094617 CA8897242	609	Y>H		No	ClinGen ExAC gnomAD
rs747329773 CA8897240	611	C>W		No	ClinGen ExAC gnomAD
rs866348894 CA296722322	612	Q>H		No	ClinGen Ensembl
CA401948925 rs1310199448	617	P>L		No	ClinGen TOPMed gnomAD
CA8897216 rs137893351	620	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA401948767 rs1421359751	626	M>V		No	ClinGen TOPMed
rs773590464 CA8897204	627	R>Q		No	ClinGen ExAC gnomAD
rs568852514 CA8897205	627	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8897203 rs767972169	629	P>A		No	ClinGen ExAC gnomAD
rs1598881103 CA401948712	631	K>Q		No	ClinGen Ensembl
CA8897201 rs774082973	632	P>T		No	ClinGen ExAC
TCGA novel	633	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415279594 CA401948640	635	T>A		No	ClinGen TOPMed
CA8897199 rs748817192	635	T>I		No	ClinGen ExAC gnomAD
CA8897198 rs775194626	637	P>S		No	ClinGen ExAC gnomAD
rs769420628 COSM437912 CA8897197	638	I>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1394931973 CA401948514	643	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1195263339 CA401948465	647	Q>*		No	ClinGen gnomAD
TCGA novel	648	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746746069 CA8897193	650	E>G		No	ClinGen ExAC
CA401948425 rs1263117093	650	E>K		No	ClinGen TOPMed gnomAD
CA8897191 rs755135923	651	S>N		No	ClinGen ExAC TOPMed gnomAD
CA296721835 rs865907652	652	S>R		No	ClinGen Ensembl
CA401948377 rs1257932116	653	M>V		No	ClinGen TOPMed gnomAD
rs754047127 CA401948303	657	K>N		No	ClinGen ExAC gnomAD
TCGA novel	657	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401948298 rs1323146585	658	P>A		No	ClinGen gnomAD
CA8897189 rs766515157	658	P>L		No	ClinGen ExAC gnomAD
CA296721821 rs1002627248	660	T>I		No	ClinGen TOPMed gnomAD
CA8897188 rs756124455	663	H>Y		No	ClinGen ExAC gnomAD
rs767870576 CA8897186	664	R>Q		No	ClinGen ExAC gnomAD
CA8897187 rs750960664	664	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762242022 CA401948172	665	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8897185 rs762242022	665	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA401948178 rs1404109464	665	P>S		No	ClinGen gnomAD
CA401948185 rs1404109464	665	P>T		No	ClinGen gnomAD
rs774794185 CA8897184	666	L>F		No	ClinGen ExAC gnomAD
rs1426827927 CA401948155	666	L>R		No	ClinGen gnomAD
CA8897183 rs764536309	667	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8897182 rs370726479	667	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs764536309 CA296721751	667	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs377342565 CA8897181	668	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs968230347 CA296721721	669	I>L		No	ClinGen Ensembl
rs139042319 CA8897180	669	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8897156 rs760597915	678	S>P		No	ClinGen ExAC gnomAD
TCGA novel	678	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296720025 rs936837347	679	M>T		No	ClinGen TOPMed gnomAD
CA401946156 rs1310948357	680	D>E		No	ClinGen gnomAD
rs1380339048 CA401946159	680	D>V		No	ClinGen gnomAD
CA8897155 rs561269456	681	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA401946110 rs1334853790	682	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771874253 CA8897154	684	E>K		No	ClinGen ExAC gnomAD
TCGA novel	687	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747896199 CA8897153	693	M>L		No	ClinGen ExAC TOPMed gnomAD
CA296719956 rs928738249	694	E>K		No	ClinGen Ensembl
CA8897152 rs780256116	696	W>*		No	ClinGen ExAC gnomAD
CA296719939 rs201168955	698	T>I		No	ClinGen 1000Genomes gnomAD
CA401945750 rs1368889451	699	M>V		No	ClinGen TOPMed
rs574553529 CA8897150	700	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1179357774 CA401945599	706	K>E		No	ClinGen gnomAD
TCGA novel	706	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568176264 CA401945553	708	F>I		No	ClinGen Ensembl
rs781195748 CA8897149	709	I>V		No	ClinGen ExAC gnomAD
rs757327564 CA8897148	710	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1453405353 CA401945494	711	E>A		No	ClinGen gnomAD
rs924082349 CA296719920	713	I>T		No	ClinGen TOPMed
CA401945447 rs1292332855	714	S>N		No	ClinGen TOPMed gnomAD
CA8897147 rs752159679	716	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8897146 rs778378090	717	R>Q		No	ClinGen ExAC gnomAD
rs1357246242 CA401945408	717	R>W		No	ClinGen gnomAD
CA296719894 rs747311581	718	R>C		No	ClinGen TOPMed
CA401945397 rs1224186975	718	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401945394 rs1224186975	718	R>L		No	ClinGen TOPMed gnomAD
CA8897145 rs758867496	719	S>N		No	ClinGen ExAC
rs764956341 CA8897143	721	V>A		No	ClinGen ExAC gnomAD
rs1277418607 CA401945366	721	V>L		No	ClinGen gnomAD
CA8897142 rs759172967	722	L>S		No	ClinGen ExAC gnomAD
rs1345623509 CA401945358	722	L>V		No	ClinGen gnomAD
TCGA novel	726	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8897140 rs765850860	728	R>*		No	ClinGen ExAC TOPMed gnomAD
rs201864753 CA8897139	728	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	733	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8897136 rs764058426 COSM285325	733	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs768493411 CA8897134	736	F>L		No	ClinGen ExAC gnomAD
rs781452811 CA8897132	737	Y>C		No	ClinGen ExAC gnomAD
CA8897133 rs577239034	737	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA401945131 rs1316137401	738	M>T		No	ClinGen TOPMed gnomAD
rs376041494 CA8897131	738	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747047335 CA8897130	741	P>S		No	ClinGen ExAC gnomAD
rs748656009 CA8897127	742	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8897124 rs763129042	744	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8897125 rs779215877	744	S>P		No	ClinGen ExAC
CA8897122 rs766013462	745	E>K		No	ClinGen ExAC TOPMed gnomAD
CA401945059 rs1431857139	747	C>F		No	ClinGen gnomAD
CA401945048 rs1344994117	748	P>A		No	ClinGen TOPMed gnomAD
CA8897121 rs755622102	748	P>L		No	ClinGen ExAC gnomAD
rs766997546 CA8897119	750	E>G		No	ClinGen ExAC gnomAD
rs761806323 CA8897118	752	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1004803708 CA296719744	753	I>N		No	ClinGen TOPMed gnomAD
rs763843659 CA8897116	753	I>V		No	ClinGen ExAC gnomAD
rs530309556 CA8897115	754	S>N		No	ClinGen ExAC TOPMed gnomAD
CA296719743 rs890368733	756	I>T		No	ClinGen TOPMed

No associated diseases with Q08AE8

2 regional properties for Q08AE8

Type	Name	Position	InterPro Accession
domain	KIND domain	40 - 236	IPR011019
domain	Protein Spire homolog 1, FYVE-related domain	588 - 708	IPR029905

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cytoplasm, perinuclear region Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasmic vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side	Detected at the cleavage furrow during asymmetric oocyte division and polar body extrusion (By similarity) Punctate spots in perinuclear region and cytoplasm, colocalized with Rab11 (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 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.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
integral component of mitochondrial outer membrane	The component of the mitochondrial outer membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.

14 GO annotations of biological process

Name	Definition
actin cytoskeleton 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 and their associated proteins.
actin filament network formation	The assembly of a network of actin filaments; actin filaments on different axes and with differing orientations are crosslinked together to form a mesh of filaments.
actin filament polymerization	Assembly of actin filaments by the addition of actin monomers to a filament.
actin nucleation	The initial step in the formation of an actin filament, in which actin monomers combine to form a new filament. Nucleation is slow relative to the subsequent addition of more monomers to extend the filament.
cleavage furrow formation	Generation of the cleavage furrow, a shallow groove in the cell surface near the old metaphase plate that marks the site of cytokinesis. This process includes the recruitment and localized activation of signals such as RhoA at the site of the future furrow to ensure that furrowing initiates at the correct site in the cell.
establishment of meiotic spindle localization	The cell cycle process in which the directed movement of the meiotic spindle to a specific location in the cell occurs.
formin-nucleated actin cable assembly	The aggregation, arrangement and bonding together of a set of components to form a formin-nucleated actin cable. A formin-nucleated actin cable is an actin filament bundle that consists of short filaments organized into bundles of uniform polarity, and is nucleated by formins.
Golgi vesicle transport	The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles.
intracellular transport	The directed movement of substances within a cell.
polar body extrusion after meiotic divisions	The cell cycle process in which two small cells are generated, as byproducts destined to degenerate, as a result of the first and second meiotic divisions of a primary oocyte during its development to a mature ovum. One polar body is formed in the first division of meiosis and the other in the second division; at each division, the cytoplasm divides unequally, so that the polar body is of much smaller size than the developing oocyte. At the second division in which a polar body is formed, the polar body and the developing oocyte each contain a haploid set of chromosomes.
positive regulation of double-strand break repair	Any process that activates or increases the frequency, rate or extent of double-strand break repair.
positive regulation of mitochondrial fission	Any process that increases the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q52KF3	Spire1	Protein spire homolog 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAQAAGPAGG	GEPRTEAVGG	EGPREPGAAG	GAAGGSRDAL	SLEEILRLYN	QPINEEQAWA
70	80	90	100	110	120
VCYQCCGSLR	AAARRRQPRH	RVRSAAQIRV	WRDGAVTLAP	AADDAGEPPP	VAGKLGYSQC
130	140	150	160	170	180
METEVIESLG	IIIYKALDYG	LKENEERELS	PPLEQLIDHM	ANTVEADGSN	DEGYEAAEEG
190	200	210	220	230	240
LGDEDEKRKI	SAIRSYRDVM	KLCAAHLPTE	SDAPNHYQAV	CRALFAETME	LHTFLTKIKS
250	260	270	280	290	300
AKENLKKIQE	MEKSDESSTD	LEELKNADWA	RFWVQVMRDL	RNGVKLKKVQ	ERQYNPLPIE
310	320	330	340	350	360
YQLTPYEMLM	DDIRCKRYTL	RKVMVNGDIP	PRLKKSAHEI	ILDFIRSRPP	LNPVSARKLK
370	380	390	400	410	420
PTPPRPRSLH	ERILEEIKAE	RKLRPVSPEE	IRRSRLAMRP	LSMSYSFDLS	DVTTPESTKN
430	440	450	460	470	480
LVESSMVNGG	LTSQTKENGL	STSQQVPAQR	KKLLRAPTLA	ELDSSESEEE	TLHKSTSSSS
490	500	510	520	530	540
VSPSFPEEPV	LEAVSTRKKP	PKFLPISSTP	QPERRQPPQR	RHSIEKETPT	NVRQFLPPSR
550	560	570	580	590	600
QSSRSLEEFC	YPVECLALTV	EEVMHIRQVL	VKAELEKYQQ	YKDIYTALKK	GKLCFCCRTR
610	620	630	640	650	660
RFSFFTWSYT	CQFCKRPVCS	QCCKKMRLPS	KPYSTLPIFS	LGPSALQRGE	SSMRSEKPST
670	680	690	700	710	720
AHHRPLRSIA	RFSSKSKSMD	KSDEELQFPK	ELMEDWSTME	VCVDCKKFIS	EIISSSRRSL
730	740	750
VLANKRARLK	RKTQSFYMSS	PGPSEYCPSE	RTISEI