AiPD: Autoinhibited Protein Database

Q8WUQ7

Gene name	CACTIN (C19orf29)
Protein name	Cactin
Names	Renal carcinoma antigen NY-REN-24
Species	Homo sapiens (Human)
KEGG Pathway	hsa:58509
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-206 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-206 (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 Q8WUQ7

Entry ID	Method	Resolution	Chain	Position	Source
6QDV	EM	330 A	F	637-758	PDB
7W5A	EM	360 A	Z	1-758	PDB
7W5B	EM	430 A	Z	1-758	PDB
8C6J	EM	280 A	F	1-758	PDB
AF-Q8WUQ7-F1	Predicted				AlphaFoldDB

631 variants for Q8WUQ7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA9081810 rs762547747	2	G>A		No	ClinGen ExAC gnomAD
rs868759611 CA304383403	2	G>C		No	ClinGen Ensembl
rs868054668 CA304383397	3	R>L		No	ClinGen gnomAD
rs868054668 CA403363290	3	R>P		No	ClinGen gnomAD
CA304383399 rs897626615	3	R>W		No	ClinGen TOPMed gnomAD
rs769508468 CA9081808	4	D>G		No	ClinGen ExAC TOPMed gnomAD
CA403363271 rs775674838	5	T>A		No	ClinGen ExAC TOPMed gnomAD
rs762520508 CA304383392	5	T>R		No	ClinGen TOPMed gnomAD
CA9081806 rs775674838	5	T>S		No	ClinGen ExAC TOPMed gnomAD
CA403363263 rs1263854517	6	R>G		No	ClinGen TOPMed gnomAD
rs1207923714 CA403363259	6	R>P		No	ClinGen gnomAD
CA403363265 rs1263854517	6	R>S		No	ClinGen TOPMed gnomAD
CA403363247 rs1488044735	7	S>W		No	ClinGen gnomAD
CA403363240 rs1265763751	8	R>C		No	ClinGen TOPMed gnomAD
CA403363243 rs1265763751	8	R>S		No	ClinGen TOPMed gnomAD
rs1339685936 CA403363227	9	S>W		No	ClinGen gnomAD
CA403363219 rs1439805978	10	R>P		No	ClinGen TOPMed
CA403363220 rs1439805978	10	R>Q		No	ClinGen TOPMed
rs746280342 CA9081804	10	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1186167329 CA403363209	11	S>F		No	ClinGen TOPMed
rs1228576032 CA403363194	12	A>G		No	ClinGen TOPMed gnomAD
CA403363187 rs1299822890	13	G>C		No	ClinGen TOPMed gnomAD
rs1299822890 CA403363190	13	G>S		No	ClinGen TOPMed gnomAD
CA9081799 rs756290746	14	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9081798 rs752931515	14	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1310753565 CA403363174	15	R>G		No	ClinGen TOPMed
rs1310753565 CA403363173	15	R>W		No	ClinGen TOPMed
CA403363161 rs1355196815	16	G>D		No	ClinGen TOPMed
rs1044722321 CA403363148	17	R>L		No	ClinGen TOPMed gnomAD
rs1044722321 CA304383378	17	R>Q		No	ClinGen TOPMed gnomAD
CA9081797 rs781316893	18	R>K		No	ClinGen ExAC gnomAD
CA403363118 rs1169465863	20	Q>R		No	ClinGen gnomAD
rs1347293258 CA403363110	21	S>G		No	ClinGen TOPMed
CA403363085 rs1431714177	22	Q>H		No	ClinGen gnomAD
CA403363080 rs1208976357	23	S>N		No	ClinGen TOPMed
CA403363074 rs1375944398	24	G>R		No	ClinGen TOPMed gnomAD
rs751376573 CA9081796	26	R>L		No	ClinGen ExAC TOPMed gnomAD
rs751376573 CA9081795	26	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA403363039 rs1252419804	27	S>G		No	ClinGen TOPMed
rs1267936287 CA403363017	29	S>R		No	ClinGen gnomAD
CA9081793 rs749900957	29	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1273553334 CA403362968	32	H>L		No	ClinGen gnomAD
rs1455229675 CA403362952	34	R>Q		No	ClinGen TOPMed
CA9081791 rs764867647	35	R>Q		No	ClinGen ExAC gnomAD
CA403362934 rs1253693561	36	N>D		No	ClinGen gnomAD
CA403362936 rs1253693561	36	N>H		No	ClinGen gnomAD
CA403362920 rs1233194491	36	N>K		No	ClinGen gnomAD
rs761461179 CA9081790	40	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1408443543 CA403362878	41	E>A		No	ClinGen gnomAD
CA403362884 rs1304018789	41	E>K		No	ClinGen gnomAD
rs1308716085 CA403362864	42	D>Y		No	ClinGen TOPMed gnomAD
CA403362852 rs1430021999	43	E>K		No	ClinGen TOPMed
CA403362833 rs1300198477	44	G>R		No	ClinGen TOPMed
rs1350188878 CA403362813	45	R>G		No	ClinGen TOPMed gnomAD
CA403362802 rs1308885681	45	R>Q		No	ClinGen TOPMed gnomAD
rs1411849576 CA403362739	48	R>L		No	ClinGen TOPMed gnomAD
CA403362741 rs1411849576	48	R>P		No	ClinGen TOPMed gnomAD
CA9081789 rs772584947	50	R>W		No	ClinGen ExAC TOPMed gnomAD
rs768264812 CA9081788	51	R>Q		No	ClinGen ExAC gnomAD
CA403362667 rs1313931218	52	S>I		No	ClinGen TOPMed gnomAD
rs759881630 CA9081787	54	E>Q		No	ClinGen ExAC gnomAD
CA304383356 rs1047338956	56	R>K		No	ClinGen TOPMed
CA9081761 rs747224468	57	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1388241237 CA403360276	61	E>K		No	ClinGen gnomAD
CA403360245 rs1162309914	62	E>D		No	ClinGen TOPMed gnomAD
CA9081759 rs117491710	63	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM995215 rs780460957 CA9081760	63	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1448334853 CA403360209	64	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs745727694 CA9081758	65	Q>R		No	ClinGen ExAC gnomAD
rs778932025 CA9081757	66	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9081756 rs568677025	66	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9081755 rs753340469	67	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763544048 CA9081754	68	G>E		No	ClinGen ExAC TOPMed gnomAD
CA403360123 rs1210693903	68	G>R		No	ClinGen gnomAD
CA9081753 rs755692018	69	M>T		No	ClinGen ExAC
rs1295643587 CA403360043	70	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752325115 CA9081752	70	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767214264 CA9081751	71	S>G		No	ClinGen ExAC gnomAD
rs773571101 CA9081749	72	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs763298025 CA9081750	72	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9081748 rs765717577	73	S>N		No	ClinGen ExAC TOPMed gnomAD
CA304380270 rs763724454	74	P>L		No	ClinGen Ensembl
CA9081745 rs188275020	75	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761795759	76	R>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9081740 rs201504880	76	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs747158900 CA9081741	76	R>W		No	ClinGen ExAC TOPMed gnomAD
rs183659721 CA9081739	78	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1246604224 CA403359823	79	W>G		No	ClinGen gnomAD
rs1268454373 CA403359718	83	D>G		No	ClinGen TOPMed
CA403359673 rs1200078790	84	G>E		No	ClinGen gnomAD
rs1272833903 CA403359608	86	S>F		No	ClinGen gnomAD
CA9081737 rs778874723	86	S>P		No	ClinGen ExAC gnomAD
CA9081736 rs770861559	88	S>L		No	ClinGen ExAC TOPMed gnomAD
CA403359585 rs1204615081	88	S>T		No	ClinGen gnomAD
CA304380247 rs552324776	89	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	89	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9081733 rs755564282	91	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1274168626 CA403359454	92	E>K		No	ClinGen gnomAD
CA403359401 rs1305814027	94	Q>*		No	ClinGen gnomAD
CA304380235 rs570125841	94	Q>H		No	ClinGen Ensembl
rs538539255 CA9081731	96	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA403359370 rs1244603265	96	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9081730 rs754638301	98	Q>H		No	ClinGen ExAC gnomAD
rs1171953253 CA403359323	98	Q>R		No	ClinGen gnomAD
CA403359295 rs1177776551	99	W>C		No	ClinGen gnomAD
CA9081729 rs750733184	99	W>R		No	ClinGen ExAC gnomAD
rs765548103 CA9081728	100	A>D		No	ClinGen ExAC TOPMed gnomAD
CA403359289 rs1568297187	100	A>T		No	ClinGen Ensembl
rs765548103 CA403359282	100	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1041912810 CA304380220	101	R>C		No	ClinGen gnomAD
CA9081727 rs762274783	101	R>H		No	ClinGen ExAC TOPMed gnomAD
CA403359254 rs764731895	102	R>P		No	ClinGen ExAC TOPMed gnomAD
rs764731895 CA9081725	102	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM178739 CA9081726 rs754275047	102	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9081724 rs760773303	103	R>Q		No	ClinGen ExAC gnomAD
CA403359221 rs772375805	104	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9081722 rs772375805	104	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9081723 rs775728869	104	R>W		No	ClinGen ExAC gnomAD
rs759869661 CA9081721	105	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200387014 CA9081720	105	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA403359160 rs374661733	106	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3707066 CA9081718 rs374661733	106	A>T	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs777564935 CA9081717	107	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9081716 rs769773969	107	R>H		No	ClinGen ExAC gnomAD
rs777564935 CA403359142	107	R>S		No	ClinGen ExAC TOPMed gnomAD
rs55862054 CA403359110	108	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9081714 rs55862054	108	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403359106 rs55862054	108	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9081712 rs751177420	112	S>R		No	ClinGen ExAC gnomAD
CA403358958 rs1410523445	113	S>F		No	ClinGen gnomAD
CA9081711 rs779802743	114	S>L		No	ClinGen ExAC gnomAD
rs1048684291 CA304380179	115	A>G		No	ClinGen TOPMed
CA403358918 rs1238078392	115	A>T		No	ClinGen gnomAD
CA403358909 rs1048684291	115	A>V		No	ClinGen TOPMed
CA304380175 rs1060571	117	S>R		No	ClinGen Ensembl
CA403358834 rs1191669044	118	S>C		No	ClinGen gnomAD
CA9081706 rs752789238	119	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9081708 rs764453544	119	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752789238 CA9081707	119	A>V		No	ClinGen ExAC TOPMed gnomAD
CA403358762 rs1226199053	121	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1308697344 CA403358765	121	P>S		No	ClinGen gnomAD
CA9081703 rs774424818	122	G>E		No	ClinGen ExAC gnomAD
rs774424818 CA403358736	122	G>V		No	ClinGen ExAC gnomAD
CA403358732 rs1354624691	123	R>*		No	ClinGen gnomAD
rs771249787 CA403358729	123	R>P		No	ClinGen ExAC TOPMed gnomAD
rs771249787 CA9081702	123	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA403358694 rs1460400232	125	Q>H		No	ClinGen Ensembl
CA9081701 rs762587656	126	S>G		No	ClinGen ExAC gnomAD
CA9081700 rs773071711	126	S>R		No	ClinGen ExAC gnomAD
rs374039423 CA9081697	128	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	128	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9081695 rs144125650	128	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144125650 CA9081694	128	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144125650 CA9081693	128	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374039423 CA9081696	128	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA403358626 rs201370100	129	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA9081692 rs201370100	129	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9081690 rs201335748	130	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9081688 rs201717662	131	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1258429728 CA403358596	132	A>T		No	ClinGen TOPMed
CA403358484 rs1331844932	137	Q>R		No	ClinGen TOPMed gnomAD
CA403358474 rs1568297014	138	Q>*		No	ClinGen Ensembl
CA9081686 rs751660854	138	Q>H		No	ClinGen ExAC
CA9081685 rs763258212	139	S>N		No	ClinGen ExAC TOPMed gnomAD
CA9081683 rs772842638	139	S>R		No	ClinGen ExAC TOPMed gnomAD
CA9081684 rs763258212	139	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	141	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403358445 rs1568296993	141	Q>K		No	ClinGen Ensembl
CA9081682 rs764982264	142	E>G		No	ClinGen ExAC gnomAD
rs1034101816 CA304380132	143	R>Q		No	ClinGen TOPMed gnomAD
CA9081680 rs761641138	143	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA9081678 rs768644417	145	R>W		No	ClinGen ExAC gnomAD
CA403358341 rs866352473	147	R>G		No	ClinGen TOPMed gnomAD
rs775091397 CA9081677	147	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9081676 rs775091397	147	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA304380129 rs866352473	147	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1389567496 CA403358307	148	E>D		No	ClinGen gnomAD
rs575056664 CA9081673	150	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575056664 CA9081672	150	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745506756 CA9081674	150	R>W		No	ClinGen ExAC TOPMed gnomAD
rs748592436 CA9081671	151	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA304380115 rs867707323	152	Q>K		No	ClinGen Ensembl
TCGA novel	153	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866979683 CA403358194	155	E>*		No	ClinGen gnomAD
CA304380111 rs866979683	155	E>K		No	ClinGen gnomAD
CA403358184 rs1339480897	155	E>V		No	ClinGen gnomAD
rs755554710 CA304380106	156	L>M		No	ClinGen ExAC gnomAD
CA9081669 rs755554710	156	L>V		No	ClinGen ExAC gnomAD
rs1568296910 CA403358160	157	M>I		No	ClinGen Ensembl
rs1309832688 CA403358164	157	M>T		No	ClinGen gnomAD
rs751544012 CA9081668	159	A>V		No	ClinGen ExAC gnomAD
CA403358089 rs1346471359	162	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1460003137 CA403358095	162	T>S		No	ClinGen TOPMed
CA403358072 rs1370060254	164	E>K		No	ClinGen gnomAD
rs371224074 CA9081665	167	R>H		No	ClinGen ESP ExAC gnomAD
CA9081661 rs763973263	168	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9081662 rs763973263	168	A>T		No	ClinGen ExAC gnomAD
CA403358007 rs1269274308	169	R>W		No	ClinGen gnomAD
CA403357979 rs1481893313	172	A>T		No	ClinGen gnomAD
CA403357899 rs199984244 CA9081656	178	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1176651766 CA403357890	179	R>C		No	ClinGen TOPMed
CA403357892 rs1176651766	179	R>G		No	ClinGen TOPMed
rs890738741 CA304380079	179	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	180	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770714598 CA9081655	180	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1052353733 CA304380070	182	R>Q		No	ClinGen Ensembl
rs781706693 CA403357812	183	E>D		No	ClinGen ExAC gnomAD
CA403357756 rs1329790133	188	G>S		No	ClinGen gnomAD
rs1393223543 CA403357700	190	E>D		No	ClinGen gnomAD
rs747519855 CA9081651	193	G>A		No	ClinGen ExAC gnomAD
CA403357523 rs1362929052	198	D>E		No	ClinGen gnomAD
CA9081647 rs779038820	198	D>N		No	ClinGen ExAC TOPMed gnomAD
rs763850291 CA9081644	204	N>H		No	ClinGen ExAC gnomAD
rs1322047553 CA403357375	204	N>K		No	ClinGen TOPMed
rs1203617827 CA403357359	205	N>S		No	ClinGen gnomAD
rs1207302617 CA403357312	208	G>D		No	ClinGen gnomAD
rs1350327812 CA403357293	209	T>N		No	ClinGen gnomAD
rs752667656 CA9081642	211	I>V		No	ClinGen ExAC gnomAD
rs1568296792 CA403357230	212	W>L		No	ClinGen Ensembl
rs767751658 CA9081591	215	A>T		No	ClinGen ExAC gnomAD
rs759952507 CA9081590	218	K>R		No	ClinGen ExAC gnomAD
CA403354988 rs1599892306	222	S>G		No	ClinGen Ensembl
CA403354929 rs1333589582	225	E>K		No	ClinGen gnomAD
rs1471162506 CA403354848	228	E>K		No	ClinGen gnomAD
rs1159429266 CA403354797	230	K>R		No	ClinGen gnomAD
CA9081585 rs770015387	231	E>D		No	ClinGen ExAC gnomAD
CA9081584 rs371220220	232	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1181890918 CA403354768	232	R>W		No	ClinGen TOPMed gnomAD
rs1462501623 CA403354712	235	R>G		No	ClinGen gnomAD
CA304379057 rs1014670036	235	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	235	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	235	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599892195 CA403354697	236	I>T		No	ClinGen Ensembl
rs1443637467 CA403354575	241	R>Q		No	ClinGen TOPMed
CA403354578 rs1317195635	241	R>W		No	ClinGen gnomAD
TCGA novel	243	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1445819118 CA403354210	251	R>Q		No	ClinGen gnomAD
rs199703521 CA9081533	253	E>G		No	ClinGen ExAC gnomAD
TCGA novel	253	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403354134 rs1262716884	254	R>Q		No	ClinGen gnomAD
rs750803352 CA403354144	254	R>W		No	ClinGen ExAC gnomAD
CA9081531 rs765605326	256	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1219013892 CA403354082	256	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1291187393 CA403354066	257	E>A		No	ClinGen gnomAD
CA403354047 rs1568295297	258	K>Q		No	ClinGen Ensembl
CA403354008 rs1357032345	259	A>T		No	ClinGen gnomAD
rs1285875158 CA403353964	261	R>C		No	ClinGen gnomAD
rs371376477 CA9081530	261	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9081528 rs764248234	262	E>K		No	ClinGen ExAC gnomAD
CA403353848 rs1363297528	265	L>R		No	ClinGen TOPMed gnomAD
rs1416599099 CA403353798	267	M>K		No	ClinGen gnomAD
rs1424739932 CA403353801	267	M>V		No	ClinGen gnomAD
rs767785709 CA403353774	268	L>M		No	ClinGen ExAC TOPMed gnomAD
rs774227634 CA9081523	270	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9081522 rs770736305	270	R>H		No	ClinGen ExAC TOPMed gnomAD
CA403353690 rs1347230485	271	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA403353640 rs1268425823	272	K>R		No	ClinGen gnomAD
rs769277949 CA9081519	275	E>D		No	ClinGen ExAC gnomAD
rs1170602681 CA403353476	276	H>L		No	ClinGen gnomAD
rs1291953113 CA403353492	276	H>N		No	ClinGen gnomAD
CA403353419 rs780752827	278	K>M		No	ClinGen ExAC gnomAD
CA9081517 rs780752827	278	K>R		No	ClinGen ExAC gnomAD
CA9081515 rs746170233	285	D>N		No	ClinGen ExAC gnomAD
CA9081513 rs757601367	293	K>T		No	ClinGen ExAC TOPMed
CA304378807 rs977415590	295	R>C		No	ClinGen gnomAD
rs1307684730 CA403351593	296	S>C		No	ClinGen Ensembl
rs771865433 CA9081480	297	K>N		No	ClinGen ExAC gnomAD
CA403351517 rs1382651018	299	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs778317029 CA9081477	301	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9081478 rs749622565	301	R>W		No	ClinGen ExAC TOPMed
CA9081475 rs560662203	303	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA304378482 rs551044617	304	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA304378479 rs992695258	305	A>G		No	ClinGen TOPMed
CA9081473 rs755078191	308	I>F		No	ClinGen ExAC gnomAD
rs780261607 CA9081471	309	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1240014982 CA403351055	315	I>T		No	ClinGen TOPMed gnomAD
rs1355611706 CA403351068	315	I>V		No	ClinGen TOPMed
CA9081466 rs753811318	317	A>T		No	ClinGen ExAC TOPMed gnomAD
CA403350997 rs1287591106	317	A>V		No	ClinGen gnomAD
CA9081463 rs763944157	321	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	323	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774885554 CA9081461 COSM1480941	324	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1360253023 CA403350831	329	P>T		No	ClinGen gnomAD
CA403350806 rs1400887024	332	F>L		No	ClinGen gnomAD
rs201105368 CA9081460	334	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs759237600 CA9081459	334	N>S		No	ClinGen ExAC gnomAD
CA9081457 rs770273141	335	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9081455 rs777126778	337	T>S		No	ClinGen ExAC
rs1425354720 CA403350766	338	V>M		No	ClinGen gnomAD
CA304378457 rs964784661	339	A>V		No	ClinGen TOPMed
CA9081452 rs780138534	340	D>N		No	ClinGen ExAC gnomAD
COSM3822757 CA403350729 rs1313709774	341	M>V	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA9081451 rs758512766	343	D>N		No	ClinGen ExAC TOPMed gnomAD
CA403350675 rs1266570087	345	L>V		No	ClinGen gnomAD
CA9081448 rs372265731 CA9081449	349	Q>H		No	ClinGen ESP ExAC gnomAD
rs534488397 CA304378413	350	V>I		No	ClinGen TOPMed
TCGA novel	351	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236857174 CA403350533	353	E>D		No	ClinGen TOPMed
CA403350495 rs1302916793	357	G>D		No	ClinGen gnomAD
CA304378407 rs929878950	357	G>S		No	ClinGen Ensembl
CA304378404 rs200560369	360	A>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA403350458 rs200560369	360	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA403350447 rs865856318	361	D>N		No	ClinGen gnomAD
CA304378402 rs865856318	361	D>Y		No	ClinGen gnomAD
CA304378396 rs868578565	363	W>L		No	ClinGen gnomAD
rs964526295 CA304378400	363	W>R		No	ClinGen TOPMed gnomAD
rs201581975 CA403350407	364	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA304378392 rs201581975	364	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs745952291 CA9081429	364	R>W		No	ClinGen ExAC gnomAD
rs1377833256 CA403350403	365	D>Y		No	ClinGen gnomAD
rs1177694997 CA403350374	366	M>I		No	ClinGen gnomAD
rs1416728010 CA403350352	367	T>I		No	ClinGen gnomAD
rs368947206 CA9081427	368	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9081425 rs777402329	371	E>K		No	ClinGen ExAC TOPMed gnomAD
CA304378379 rs866494558	373	E>*		No	ClinGen TOPMed
CA304378381 rs866494558	373	E>K		No	ClinGen TOPMed
CA403350240 rs1257978759	374	I>V		No	ClinGen gnomAD
CA403350190 rs1308487338	376	K>E		No	ClinGen gnomAD
rs1181223544 CA403350143	377	L>H		No	ClinGen gnomAD
CA403350155 rs1447476312	377	L>I		No	ClinGen gnomAD
CA403350128 rs1334513817	378	R>C		No	ClinGen gnomAD
rs373966903 CA9081422	378	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA403350117 rs373966903	378	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1256513529 CA403350092	379	K>N		No	ClinGen TOPMed
rs1031477859 CA304378371	380	L>Q		No	ClinGen TOPMed gnomAD
CA9081421 rs370534868	381	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1451028386 CA403350087	381	E>K		No	ClinGen gnomAD
rs1158696741 CA403350062	382	A>T		No	ClinGen gnomAD
CA9081420 rs751123629	383	S>L		No	ClinGen ExAC TOPMed gnomAD
rs968821657 CA304378351	384	G>A		No	ClinGen Ensembl
CA403349981 rs1203573361	386	G>R		No	ClinGen gnomAD
CA9081418 rs373257697	387	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1199648929 CA403347456	388	G>D		No	ClinGen gnomAD
CA403349928 rs1242386857	388	G>S		No	ClinGen TOPMed gnomAD
CA9081396 rs760891337	390	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9081395 rs547967161	390	R>H		No	ClinGen ExAC gnomAD
CA403347432 rs760891337	390	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1324607016 CA403347421	391	R>C		No	ClinGen TOPMed
rs1415742959 CA403347418	391	R>H		No	ClinGen gnomAD
rs1317010882 CA403347410	392	E>K		No	ClinGen gnomAD
CA403347408 rs1317010882	392	E>Q		No	ClinGen gnomAD
rs1258330275 CA403347385	393	G>E		No	ClinGen gnomAD
CA403347379 rs1220132648	394	V>I		No	ClinGen TOPMed gnomAD
CA9081393 rs760007589	395	N>S		No	ClinGen ExAC gnomAD
CA304374923 rs376665574	396	A>T		No	ClinGen ESP TOPMed gnomAD
CA403347333 rs1333334600	396	A>V		No	ClinGen gnomAD
rs1329833106 CA403347319	397	S>F		No	ClinGen gnomAD
rs763163777 CA9081390	398	V>I		No	ClinGen ExAC gnomAD
rs1005402570 CA304374914	403	Q>H		No	ClinGen gnomAD
rs1173238344 CA403347230	403	Q>R		No	ClinGen gnomAD
rs773244712 CA9081389	404	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747898988 CA9081387	405	V>M		No	ClinGen ExAC gnomAD
rs1248398407 CA403347191	406	F>L		No	ClinGen gnomAD
rs1238614264 CA403347131	410	T>I		No	ClinGen gnomAD
rs1489646652 CA403347123	411	Y>C		No	ClinGen gnomAD
TCGA novel	411	Y>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9081385 rs768608877	412	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1240108902 CA403347059	416	V>I		No	ClinGen gnomAD
rs1244668540 CA403347036	418	F>L		No	ClinGen TOPMed gnomAD
rs1446277629 CA403347027	419	Q>H		No	ClinGen gnomAD
CA9081381 rs1333409671	420	G>D		No	ClinGen gnomAD
CA403347009 rs1416264644	422	E>G		No	ClinGen gnomAD
rs377058963 CA9081379	422	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs895607825 CA304374897	424	K>R		No	ClinGen Ensembl
CA403346966 rs1378510400	425	I>V		No	ClinGen gnomAD
CA9081378 rs778381426	426	R>C		No	ClinGen ExAC TOPMed gnomAD
CA403346949 rs778381426	426	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9081377 rs532574991	426	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	427	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9081375 rs180738658	427	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1482118753 CA403346915	428	G>D		No	ClinGen gnomAD
CA403346899 rs1357290909	429	G>A		No	ClinGen TOPMed
rs1236554449 CA403346881	430	P>L		No	ClinGen gnomAD
TCGA novel	432	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1443754807 CA403346772	434	M>I		No	ClinGen TOPMed gnomAD
CA9081374 rs759954761	434	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9081373 rs752008930	435	G>A		No	ClinGen ExAC gnomAD
CA403346696 rs1215247689	438	E>K		No	ClinGen gnomAD
CA403346600 rs1355135089 COSM995056	440	L>F	endometrium Variant assessed as Somatic; 5.177e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA304374892 rs868235171	443	Q>K		No	ClinGen Ensembl
CA403346482 rs1285038145	444	L>P		No	ClinGen gnomAD
rs762886918 CA9081371	445	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9081370 rs773360251	445	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9081369 rs765332572	447	H>N		No	ClinGen ExAC gnomAD
CA9081368 rs762094047	448	M>I		No	ClinGen ExAC
rs1420311004 CA403346385	448	M>V		No	ClinGen gnomAD
CA9081367 rs777040239	449	A>V		No	ClinGen ExAC gnomAD
rs772069555 CA9081363	450	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9081364 rs772069555	450	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746865447 CA9081365	450	R>W		No	ClinGen ExAC gnomAD
TCGA novel	451	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778457363 CA9081361	451	A>S		No	ClinGen ExAC
rs756811264 CA9081360	451	A>V		No	ClinGen ExAC gnomAD
rs755272837 CA9081357	452	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777472046 CA9081358	452	R>W		No	ClinGen ExAC gnomAD
CA403345579 rs1236458705	454	R>C		No	ClinGen gnomAD
CA403345576 rs1374543077	454	R>H		No	ClinGen gnomAD
CA403345546 rs1330496380	456	R>H		No	ClinGen gnomAD
TCGA novel	457	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403345522 rs1425337103	458	Q>E		No	ClinGen Ensembl
rs1442034906 CA403345490	460	V>M		No	ClinGen TOPMed
rs12977742 CA304374446	466	Y>*		No	ClinGen Ensembl
CA304374443 rs12971866	467	K>E		No	ClinGen Ensembl
rs1179662922 CA403345353	471	E>G		No	ClinGen gnomAD
rs770872634 CA403345362	471	E>K		No	ClinGen ExAC TOPMed gnomAD
rs770872634 CA9081326	471	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA403345313 rs1421196675	473	G>S		No	ClinGen gnomAD
TCGA novel	474	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403345287 rs1200053237	474	V>M		No	ClinGen gnomAD
CA9081324 rs772735810	476	S>G		No	ClinGen ExAC gnomAD
rs769330852 CA9081323	476	S>N		No	ClinGen ExAC TOPMed gnomAD
rs747811589 CA9081322	476	S>R		No	ClinGen ExAC gnomAD
CA9081321 rs780763984	477	E>K		No	ClinGen ExAC TOPMed gnomAD
rs780763984 CA304374418	477	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs376878075 CA9081320	478	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376878075 CA403345134	478	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA403345122 rs1190495326	479	L>V		No	ClinGen TOPMed
CA403345056 rs1395139397	481	P>L		No	ClinGen gnomAD
CA403345029 rs754868791	483	L>F		No	ClinGen gnomAD
CA304374411 rs754868791	483	L>V		No	ClinGen gnomAD
CA403344984 rs1422438993	486	E>Q		No	ClinGen TOPMed
CA403344960 rs1159732817	487	P>L		No	ClinGen gnomAD
rs12977519 CA304374403	487	P>S		No	ClinGen Ensembl
rs754436865 CA9081316	488	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs778027693 CA304374399	488	Q>L		No	ClinGen TOPMed gnomAD
rs547983366 CA9081315	489	S>P		No	ClinGen ExAC gnomAD
rs1599884334 CA403344934	489	S>Y		No	ClinGen Ensembl
CA304374388 rs12977508	490	P>R		No	ClinGen Ensembl
rs12977510 CA304374392	490	P>T		No	ClinGen Ensembl
CA403344904 rs1424676917	491	S>T		No	ClinGen gnomAD
rs1191612364 CA403344894	492	R>C		No	ClinGen TOPMed gnomAD
CA304374384 rs907098575 COSM3787642	492	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA403344757 rs1176552462	495	E>G		No	ClinGen gnomAD
rs965699374 CA304374261	495	E>Q		No	ClinGen TOPMed gnomAD
rs2074789 CA403344686	499	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2074789 CA9081279	499	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748223072 CA403344675	500	A>E		No	ClinGen ExAC TOPMed gnomAD
rs748223072 CA9081278	500	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1307632880 CA403344659	501	P>L		No	ClinGen gnomAD
rs747215434 CA9081275	501	P>S		No	ClinGen ExAC gnomAD
CA9081273 rs758119857	503	P>L		No	ClinGen ExAC TOPMed gnomAD
CA304374243 rs758119857	503	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1309693560 CA403344628	504	P>L		No	ClinGen TOPMed
rs1231606898 CA403344618	505	G>R		No	ClinGen gnomAD
rs1340086982 CA403344593	506	P>S		No	ClinGen gnomAD
CA9081272 rs201253601	508	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403344514 rs1156714914	509	E>G		No	ClinGen gnomAD
CA403344478 rs1400009460	510	G>D		No	ClinGen TOPMed gnomAD
CA403344476 rs1400009460	510	G>V		No	ClinGen TOPMed gnomAD
CA403344472 rs1204709005	511	G>S		No	ClinGen TOPMed
rs753854187 CA403344430	513	A>G		No	ClinGen ExAC gnomAD
rs757172712 CA403344437	513	A>S		No	ClinGen ExAC gnomAD
rs757172712 CA9081270	513	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9081269 rs753854187	513	A>V		No	ClinGen ExAC gnomAD
rs1486337803 CA403344403	515	A>T		No	ClinGen TOPMed gnomAD
CA9081266 rs775217403	516	E>K		No	ClinGen ExAC gnomAD
CA9081265 rs368780790	517	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs942131606 CA304374215	517	V>M		No	ClinGen TOPMed
rs763364403 CA9081264	519	G>S		No	ClinGen ExAC gnomAD
CA403344311 rs748577553	520	A>E		No	ClinGen ExAC TOPMed gnomAD
CA403344309 rs748577553	520	A>G		No	ClinGen ExAC TOPMed gnomAD
rs770238123 CA9081262	520	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM1198307 rs748577553 CA9081261	520	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777249426 CA9081260	522	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA304374197 rs933496746	522	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA403344276 rs1297631880	523	T>P		No	ClinGen gnomAD
CA403344261 rs1430004782	524	E>K		No	ClinGen gnomAD
rs905202069 CA304374193	525	G>D		No	ClinGen Ensembl
rs1235401230 CA403344192	526	D>E		No	ClinGen TOPMed
CA9081256 rs780189887	527	G>D		No	ClinGen ExAC gnomAD
rs747092999 CA9081257	527	G>S		No	ClinGen ExAC TOPMed gnomAD
rs758640325 CA9081255	528	D>G		No	ClinGen ExAC TOPMed gnomAD
CA403344176 rs1045047734	528	D>H		No	ClinGen Ensembl
CA304374171 rs1045047734	528	D>N		No	ClinGen Ensembl
CA9081251 rs753715429	529	G>E		No	ClinGen ExAC gnomAD
CA9081252 CA9081253 rs757133531	529	G>R		No	ClinGen ExAC TOPMed gnomAD
rs199696376 CA304374151	530	D>E		No	ClinGen Ensembl
CA9081248 rs777769596	530	D>N		No	ClinGen ExAC gnomAD
rs1219843347 CA403344093	531	G>S		No	ClinGen TOPMed gnomAD
rs1453815447 CA403344051	532	E>A		No	ClinGen TOPMed
CA403344066 rs1274077416	532	E>K		No	ClinGen gnomAD
CA403344012 rs1316279171	533	G>S		No	ClinGen gnomAD
CA9081242 rs752276114	534	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9081240 rs759229508	537	G>D		No	ClinGen ExAC gnomAD
CA403343799 rs1290505711	539	A>T		No	ClinGen TOPMed gnomAD
CA9081239 rs751269807	539	A>V		No	ClinGen ExAC
rs1393513031 CA403343776	540	V>M		No	ClinGen gnomAD
rs765511076 CA9081235	541	L>F		No	ClinGen ExAC TOPMed gnomAD
CA403343705 rs1421022867	543	E>K		No	ClinGen gnomAD
rs776939629 CA9081233	544	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1428533316 CA403343653	544	E>V		No	ClinGen gnomAD
rs927049693 CA304374069	547	I>M		No	ClinGen TOPMed
CA403343425 rs1189945805	549	Q>*		No	ClinGen gnomAD
rs760698740 CA9081231	550	S>T		No	ClinGen ExAC gnomAD
rs374665182 CA9081229	551	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs746055523 CA403343298	552	D>E		No	ClinGen ExAC gnomAD
CA403343326 rs1215936674	552	D>N		No	ClinGen gnomAD
CA403343290 rs1250909614	553	D>N		No	ClinGen gnomAD
CA403343262 rs1205334185	554	Y>H		No	ClinGen gnomAD
rs1299241295 CA403343175	555	D>Y		No	ClinGen gnomAD
rs1370144865 CA403343143	556	A>T		No	ClinGen gnomAD
rs1025442513 CA403343087	557	G>C		No	ClinGen TOPMed gnomAD
CA403343099 rs1025442513	557	G>R		No	ClinGen TOPMed gnomAD
CA304374045 rs1025442513	557	G>S		No	ClinGen TOPMed gnomAD
CA9081223 rs756148437	559	Y>D		No	ClinGen ExAC gnomAD
rs1355817175 CA403342911	561	P>L		No	ClinGen gnomAD
rs371323853 CA9081221	562	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA403342898 rs1568290953	562	R>Q		No	ClinGen Ensembl
rs371323853 CA9081222 COSM1392465	562	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs910222279 CA304374042	564	L>F		No	ClinGen gnomAD
rs751171863 CA9081219	565	T>M		No	ClinGen ExAC gnomAD
rs1481729113 CA403342713	566	A>E		No	ClinGen TOPMed gnomAD
CA403342707 rs1481729113	566	A>V		No	ClinGen TOPMed gnomAD
rs761140332 CA9081214	567	H>P		No	ClinGen ExAC gnomAD
rs1406274773 CA403342691	567	H>Q		No	ClinGen gnomAD
rs761140332 CA9081215	567	H>R		No	ClinGen ExAC gnomAD
CA304374002 rs776025793	568	E>D		No	ClinGen ExAC TOPMed gnomAD
CA403342689 rs1347070939	568	E>K		No	ClinGen gnomAD
CA9081212 rs772134055	569	L>P		No	ClinGen ExAC gnomAD
rs1305988033 CA403342669	570	P>S		No	ClinGen gnomAD
rs771204896 CA9081210	572	D>E		No	ClinGen ExAC TOPMed gnomAD
rs748994497 CA9081208	573	A>T		No	ClinGen ExAC gnomAD
rs1300570995 CA403342648	573	A>V		No	ClinGen gnomAD
rs777676313 CA9081207	574	H>R		No	ClinGen ExAC gnomAD
rs367932696 CA9081206	575	V>L		No	ClinGen ESP ExAC gnomAD
rs367932696 CA9081205	575	V>M		No	ClinGen ESP ExAC gnomAD
rs1418372487 CA403342631	577	E>K		No	ClinGen TOPMed gnomAD
rs1418372487 CA403342630	577	E>Q		No	ClinGen TOPMed gnomAD
rs962540694 CA304373985	578	P>L		No	ClinGen TOPMed gnomAD
rs374814542 CA9081204	579	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9081203 rs754383114	581	D>G		No	ClinGen ExAC TOPMed gnomAD
CA9081202 rs746545132	582	L>R		No	ClinGen ExAC gnomAD
CA304373979 rs889092455	584	R>C		No	ClinGen TOPMed gnomAD
TCGA novel	586	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758102743 CA9081200	587	L>V		No	ClinGen ExAC gnomAD
rs1318364481 CA403342491	588	S>W		No	ClinGen gnomAD
rs1413664069 CA403342482	589	R>H		No	ClinGen gnomAD
rs768024454 CA9081195	590	Q>R		No	ClinGen ExAC
rs774518960 CA9081192	591	Q>H		No	ClinGen ExAC
rs759483992 CA9081193	591	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA304373959 rs759483992	591	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs868092144 CA304373946	592	L>F		No	ClinGen TOPMed
rs868092144 CA304373954	592	L>I		No	ClinGen TOPMed
CA403342428 rs1445027088	593	Q>L		No	ClinGen gnomAD
CA304373941 rs902014712	594	V>L		No	ClinGen TOPMed
TCGA novel	595	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9081190 rs763208736	595	T>M		No	ClinGen ExAC TOPMed gnomAD
rs763208736 CA403342409	595	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1305875293 CA403342268	599	S>N		No	ClinGen TOPMed gnomAD
rs1294910792 CA403342260	600	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	604	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9081153 rs368303299	606	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368303299 CA403342166	606	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs751667810	607	F>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
COSM289198 CA9081150 rs371228649	608	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9081152 rs374408117	608	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs1459093992 CA403342126	609	R>W		No	ClinGen gnomAD
CA403342107 rs1352313665	611	K>Q		No	ClinGen gnomAD
rs879617658 CA304373506	611	K>R		No	ClinGen TOPMed gnomAD
rs750556716 CA9081149	613	G>D		No	ClinGen ExAC gnomAD
rs1411086242 CA403342092	613	G>S		No	ClinGen gnomAD
CA403342063 rs1454076190	617	D>N		No	ClinGen gnomAD
rs202198597 CA9081146	619	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403342048 rs1193189511	619	A>T		No	ClinGen gnomAD
rs1305849252 CA403342030	621	F>L		No	ClinGen gnomAD
rs936879392 CA304373495	621	F>V		No	ClinGen Ensembl
CA304373490 rs888177323	622	S>G		No	ClinGen TOPMed gnomAD
CA9081144 rs760454759	623	V>M		No	ClinGen ExAC gnomAD
rs775439498 CA9081143	625	M>I		No	ClinGen ExAC gnomAD
CA403342001 rs1370033736	625	M>L		No	ClinGen TOPMed gnomAD
rs978214109 CA304373480	627	L>F		No	ClinGen gnomAD
rs944092670 CA304373479	627	L>P		No	ClinGen Ensembl
CA9081140 rs773818588	629	G>S		No	ClinGen ExAC TOPMed gnomAD
rs770474199 CA9081139	631	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9081137 COSM1198309 rs370352349	639	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1178679703 CA403341841	639	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1392463 rs1568290119 CA403341829	641	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1314780892 CA403341570	661	T>M		No	ClinGen gnomAD
CA304373461 rs973702786	666	D>E		No	ClinGen Ensembl
rs1242358687 CA403341487	667	N>H		No	ClinGen TOPMed
CA9081128 rs760468314	667	N>S		No	ClinGen ExAC gnomAD
CA9081127 rs760468314	667	N>T		No	ClinGen ExAC gnomAD
TCGA novel	669	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9081116 rs772616027	687	D>A		No	ClinGen ExAC gnomAD
rs376455756 CA9081117	687	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA403341190 rs1405282493	688	K>R		No	ClinGen TOPMed
rs746366510 CA9081115	690	S>A		No	ClinGen ExAC gnomAD
rs1401398752 CA403341164	690	S>F		No	ClinGen TOPMed
rs1599882345 CA403341157	691	T>K		No	ClinGen Ensembl
TCGA novel	691	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9081114 rs779630431	693	E>D		No	ClinGen ExAC gnomAD
CA403341109 rs1303579733	695	F>L		No	ClinGen TOPMed
CA403341087 rs1290906224	697	E>K		No	ClinGen gnomAD
rs558114212 CA304373439	698	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs199729475 CA9081112	698	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA403341046 rs1384761069	699	C>W		No	ClinGen gnomAD
CA9081110 rs756257561 COSM3692659	700	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA304373427 rs1024724333	701	D>E		No	ClinGen Ensembl
CA403341029 rs1392474063	701	D>N		No	ClinGen gnomAD
rs1475550403 CA403340955	706	A>T		No	ClinGen gnomAD
rs1011949575 CA304373421	709	R>C		No	ClinGen TOPMed gnomAD
rs1011949575 CA304373422	709	R>G		No	ClinGen TOPMed gnomAD
CA403340916 rs751426762	709	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9081105 rs751426762	709	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1479674951 CA403340893	711	H>N		No	ClinGen TOPMed gnomAD
rs565999503 CA9081103	711	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA9081102 rs772632241	712	A>V		No	ClinGen ExAC TOPMed gnomAD
rs371204493 CA9081100	714	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9081101 rs371204493	714	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs746239817 CA9081097	717	E>D		No	ClinGen ExAC gnomAD
CA9081096 rs774941496	718	D>G		No	ClinGen ExAC TOPMed gnomAD
CA403340815 rs1369082344	719	I>M		No	ClinGen gnomAD
TCGA novel	720	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368184093 CA9081093	725	N>I		No	ClinGen ESP ExAC gnomAD
TCGA novel	728	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1279019288 CA403340705	730	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1279019288 CA403340706	730	Y>S		No	ClinGen TOPMed
rs1599882220 CA403340692	731	S>P		No	ClinGen Ensembl
CA403340677 rs748311809	732	H>P		No	ClinGen ExAC gnomAD
CA9081091 rs748311809	732	H>R		No	ClinGen ExAC gnomAD
rs1451053631 CA403340659 COSM995035	733	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA403340656 rs1451053631	733	R>L		No	ClinGen gnomAD
CA403340634 rs1222596214	735	G>R		No	ClinGen TOPMed gnomAD
rs751381616 CA9081088	736	F>L		No	ClinGen ExAC gnomAD
rs750426626 CA9081085	739	Q>R		No	ClinGen ExAC gnomAD
rs1339324233 CA403340501	741	A>V		No	ClinGen gnomAD
CA403340479 rs2158935	742	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764641492 CA9081084	742	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs550085862 CA9081080	755	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1185125834 CA403339066 COSM566206	757	R>W	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	758	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q8WUQ7

3 regional properties for Q8WUQ7

Type	Name	Position	InterPro Accession
conserved_site	Terpene synthase, conserved site	613 - 627	IPR002365
domain	Squalene cyclase, C-terminal	423 - 760	IPR032696
domain	Squalene cyclase, N-terminal	109 - 410	IPR032697

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm, cytosol	Nuclear localization with a speckled expression pattern in some cells Colocalizes with NFKBIL1 in the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
catalytic step 2 spliceosome	A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.

1 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.

16 GO annotations of biological process

Name	Definition
cellular response to interleukin-1	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus.
cellular response to lipopolysaccharide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to tumor necrosis factor	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
mRNA cis splicing, via spliceosome	The joining together, after removal of an intervening sequence composed of one or more introns, of two segments of the same RNA molecule via spliceosomal catalysis to produce an mRNA composed only of exon sequences that all came from the same primary transcript.
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
negative regulation of I-kappaB kinase/NF-kappaB signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling.
negative regulation of innate immune response	Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response.
negative regulation of interferon-beta production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-beta production.
negative regulation of interleukin-8 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-8 production.
negative regulation of lipopolysaccharide-mediated signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of signaling in response to detection of lipopolysaccharide.
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.
negative regulation of protein phosphorylation	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.
negative regulation of toll-like receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor signaling pathway.
negative regulation of tumor necrosis factor production	Any process that stops, prevents, or reduces the frequency, rate, or extent of tumor necrosis factor production.
negative regulation of type I interferon-mediated signaling pathway	Any process that decreases the rate, frequency or extent of a type I interferon-mediated signaling pathway.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9CS00	Cactin	Cactin	Mus musculus (Mouse)	PR
G5EG14	cacn-1	Cactin	Caenorhabditis elegans	PR

10	20	30	40	50	60
MGRDTRSRSR	SAGRRGRRRQ	SQSGSRSRSR	SHGRRNRRRR	EDEGRRRRRR	RSRERRSDSE
70	80	90	100	110	120
EERWQRSGMR	SRSPPRPKWH	SRDGSSQSDS	GEEQSRGQWA	RRRRRARSWS	PSSSASSSAS
130	140	150	160	170	180
PGRSQSPRAA	AAALSQQQSL	QERLRLREER	KQQEELMKAF	ETPEEKRARR	LAKKEAKERK
190	200	210	220	230	240
KREKMGWGEE	YMGYTNTDNP	FGDNNLLGTF	IWNKALEKKG	ISHLEEKELK	ERNKRIQEDN
250	260	270	280	290	300
RLELQKVKQL	RLEREREKAM	REQELEMLQR	EKEAEHFKTW	EEQEDNFHLQ	QAKLRSKIRI
310	320	330	340	350	360
RDGRAKPIDL	LAKYISAEDD	DLAVEMHEPY	TFLNGLTVAD	MEDLLEDIQV	YMELEQGKNA
370	380	390	400	410	420
DFWRDMTTIT	EDEISKLRKL	EASGKGPGER	REGVNASVSS	DVQSVFKGKT	YNQLQVIFQG
430	440	450	460	470	480
IEGKIRAGGP	NLDMGYWESL	LQQLRAHMAR	ARLRERHQDV	LRQKLYKLKQ	EQGVESEPLF
490	500	510	520	530	540
PILKQEPQSP	SRSLEPEDAA	PTPPGPSSEG	GPAEAEVDGA	TPTEGDGDGD	GEGEGEGEAV
550	560	570	580	590	600
LMEEDLIQQS	LDDYDAGRYS	PRLLTAHELP	LDAHVLEPDE	DLQRLQLSRQ	QLQVTGDASE
610	620	630	640	650	660
SAEDIFFRRA	KEGMGQDEAQ	FSVEMPLTGK	AYLWADKYRP	RKPRFFNRVH	TGFEWNKYNQ
670	680	690	700	710	720
THYDFDNPPP	KIVQGYKFNI	FYPDLIDKRS	TPEYFLEACA	DNKDFAILRF	HAGPPYEDIA
730	740	750
FKIVNREWEY	SHRHGFRCQF	ANGIFQLWFH	FKRYRYRR