AiPD: Autoinhibited Protein Database

O94886

Gene name	TMEM63A (KIAA0489, KIAA0792)
Protein name	CSC1-like protein 1
Names	Transmembrane protein 63A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9725
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-137 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-137 (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

4 structures for O94886

Entry ID	Method	Resolution	Chain	Position	Source
8EHW	EM	380 A	A	1-807	PDB
8GRS	EM	330 A	A	1-807	PDB
8WUA	EM	360 A	A	6-719	PDB
AF-O94886-F1	Predicted				AlphaFoldDB

629 variants for O94886

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000850174 VAR_083043 RCV000884702 rs1576101665 CA345024153	168	G>E	Leukodystrophy Leukodystrophy, hypomyelinating, 19, transient infantile HLD19; loss of mechanosensitive ion channel activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000884700 RCV000850175 CA345016170 rs1576080546 VAR_083044	462	I>N	Leukodystrophy Leukodystrophy, hypomyelinating, 19, transient infantile HLD19; loss of mechanosensitive ion channel activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA345013651 RCV000850176 VAR_083045 RCV000884698 rs1576074651	567	G>S	Leukodystrophy Leukodystrophy, hypomyelinating, 19, transient infantile HLD19; loss of mechanosensitive ion channel activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA345025277 rs1576119584	2	M>I		No	ClinGen Ensembl
rs527952122 CA38549320	3	D>Y		No	ClinGen 1000Genomes
CA1419718 COSM1501442 rs147318694	4	S>F	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1419720 rs764369077	4	S>P		No	ClinGen ExAC TOPMed gnomAD
rs147318694 CA1419719	4	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419717 COSM1581844 rs150756609	5	P>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA1419716 rs756105944	5	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747842358 CA1419713	9	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1180493035 CA345025219	12	S>A		No	ClinGen TOPMed
rs1180493035 CA345025217	12	S>P		No	ClinGen TOPMed
rs370774544 CA1419711	13	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs370774544 CA38549231	13	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA38549221 rs941337509	14	A>V		No	ClinGen TOPMed
CA1419710 rs749145507	15	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1419709 rs143034154	16	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA345025191 rs112241897	17	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1419707 rs112241897	17	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345025170 rs781425677	20	Q>*		No	ClinGen ExAC gnomAD
rs781425677 CA1419706	20	Q>E		No	ClinGen ExAC gnomAD
rs1449111506 CA345025166	20	Q>H		No	ClinGen TOPMed
rs1576119435 CA345025168	20	Q>R		No	ClinGen Ensembl
rs757345240 CA345025155	22	G>A		No	ClinGen ExAC TOPMed
CA1419705 rs757345240	22	G>V		No	ClinGen ExAC TOPMed
CA1419703 rs764269495	24	G>R		No	ClinGen ExAC gnomAD
rs373127251 CA38549186	26	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA38549169 rs753093672	26	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753093672 CA1419701	26	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1419702 rs373127251	26	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1398001574 CA345025130	27	P>R		No	ClinGen gnomAD
CA1419699 rs544697683	28	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1419698 rs140490039	29	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs140898373 CA1419697	30	S>C		No	ClinGen 1000Genomes ExAC
TCGA novel	31	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345025074 rs377290215	35	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419695 rs377290215	35	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA38549134 rs374417606	39	S>G		No	ClinGen ESP
rs747847486 CA38549122	43	Q>*		No	ClinGen Ensembl
CA345025015 rs1293957718	44	G>E		No	ClinGen gnomAD
TCGA novel	44	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345025005 rs1409348489	46	T>A		No	ClinGen gnomAD
rs1248314039 CA345024988	48	G>A		No	ClinGen TOPMed
CA345024954 rs1389698459	54	L>V		No	ClinGen gnomAD
rs1423336087 CA345024949	55	L>V		No	ClinGen TOPMed
rs1473563560 CA345024938	56	I>M		No	ClinGen gnomAD
CA1419683 rs758572598	57	D>E		No	ClinGen ExAC TOPMed gnomAD
CA345024935 rs1467213584	57	D>G		No	ClinGen TOPMed
rs747095793 CA1419684	57	D>N		No	ClinGen ExAC gnomAD
CA1419681 rs752862561	58	V>I		No	ClinGen ExAC TOPMed gnomAD
CA345024921 rs1253366186	59	S>I		No	ClinGen gnomAD
CA345024922 rs1253366186	59	S>N		No	ClinGen gnomAD
rs957001448 CA38549091	61	F>V		No	ClinGen TOPMed gnomAD
rs1040613657 CA38547416	64	L>S		No	ClinGen TOPMed
rs779164268 CA1419661	70	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1419660 rs755172681	71	I>R		No	ClinGen ExAC TOPMed gnomAD
rs755172681 CA345024828	71	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1344210262 CA345024831	71	I>V		No	ClinGen TOPMed gnomAD
CA345024824 rs1438537078	72	R>K		No	ClinGen TOPMed gnomAD
CA345024823 rs1438537078	72	R>T		No	ClinGen TOPMed gnomAD
CA345024811 rs1371394796	74	R>*		No	ClinGen gnomAD
rs1319674155 CA345024798	75	F>L		No	ClinGen gnomAD
rs1432409159 CA345024796	76	W>R		No	ClinGen TOPMed gnomAD
rs1390451342 CA345024776	78	Y>C		No	ClinGen gnomAD
CA38547411 rs1018672013	80	R>C		No	ClinGen TOPMed gnomAD
CA1419659 rs371902873	80	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371902873 CA345024763	80	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA345024758 rs780415187	81	I>S		No	ClinGen ExAC gnomAD
CA1419658 rs780415187	81	I>T		No	ClinGen ExAC gnomAD
rs1049520566 CA38547405	82	A>T		No	ClinGen TOPMed
rs767905205 CA1419655	84	V>L		No	ClinGen ExAC gnomAD
CA345024746 rs767905205	84	V>M		No	ClinGen ExAC gnomAD
CA1419617 rs761700413	90	E>D		No	ClinGen ExAC gnomAD
CA1419618 rs767484298	90	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1369403356 CA345024690	90	E>V		No	ClinGen gnomAD
CA345024665 rs1428403654	94	Q>*		No	ClinGen gnomAD
rs1488923639 CA345024661	94	Q>H		No	ClinGen gnomAD
rs774425398 CA1419616	94	Q>L		No	ClinGen ExAC gnomAD
CA1419614 rs370710498	98	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768654557 CA1419615	98	S>P		No	ClinGen ExAC gnomAD
CA345024635 rs1287720222	99	T>A		No	ClinGen TOPMed
CA345024634 rs1287720222	99	T>S		No	ClinGen TOPMed
CA345024614 rs1379456240	102	S>L		No	ClinGen Ensembl
rs1459104430 CA345024606	104	Q>K		No	ClinGen TOPMed gnomAD
CA1419610 rs781653230	105	Q>*		No	ClinGen ExAC
CA1419609 rs757858670	106	D>G		No	ClinGen ExAC gnomAD
rs1301761037 CA345024531	112	G>E		No	ClinGen gnomAD
COSM1339273 CA345024527 rs1240639966	113	C>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs746024882 CA1419594	113	C>Y		No	ClinGen ExAC gnomAD
CA38545947 rs200219399	114	C>R		No	ClinGen 1000Genomes
CA345024518 rs1167631904	114	C>S		No	ClinGen TOPMed
CA1419593 rs777146602	115	P>S		No	ClinGen ExAC gnomAD
CA38545944 rs990276807 COSM1288505	116	W>*	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1421949945 CA345024506 COSM1288505	116	W>*	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1327534063 CA345024499	117	L>Q		No	ClinGen TOPMed
VAR_061813 rs57306966 CA38545941	121	F>I		No	ClinGen UniProt 1000Genomes TOPMed dbSNP gnomAD
rs1321507316 CA345024473	121	F>S		No	ClinGen TOPMed
rs377388952 CA1419592	122	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA38545937 rs778512108	122	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA345024428 rs1302373634	126	D>A		No	ClinGen gnomAD
CA345024399 rs1396870772	130	E>G		No	ClinGen gnomAD
rs1576101914 CA345024379	132	C>W		No	ClinGen Ensembl
CA345024382 rs1297123030	132	C>Y		No	ClinGen TOPMed
CA1419569 rs771268658	133	G>R		No	ClinGen ExAC gnomAD
rs772667579 CA1419566	135	D>A		No	ClinGen ExAC gnomAD
rs773681942 CA1419567	135	D>H		No	ClinGen ExAC
rs1254832927 CA345024358	136	A>G		No	ClinGen gnomAD
CA1419562 rs80287818	136	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1419564 rs80287818	136	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1419563 rs80287818	136	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1272181233 CA345024355	137	I>V		No	ClinGen TOPMed
COSM1581843 CA1419561 rs115446082	138	H>D	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1419558 rs777379225	141	S>F		No	ClinGen ExAC gnomAD
CA1419557 rs758366487	142	F>Y		No	ClinGen ExAC gnomAD
rs1559046798 CA345024301	145	H>D		No	ClinGen Ensembl
rs752507825 CA1419556	146	I>V		No	ClinGen ExAC gnomAD
rs1327295206 CA345024279	148	F>V		No	ClinGen gnomAD
rs968416881 CA38541238	151	V>M		No	ClinGen TOPMed
CA1419555 rs765218554	152	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1020043521 CA38541234	154	S>C		No	ClinGen Ensembl
rs115600896 CA1419553	160	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345024187 rs1387471488	163	P>S		No	ClinGen TOPMed
CA38541224 rs1044933902	165	N>S		No	ClinGen TOPMed gnomAD
rs1456088669 CA345024161	167	S>P		No	ClinGen TOPMed
rs1184965374 CA345024148	169	D>H		No	ClinGen gnomAD
rs773650277 CA1419550	171	L>M		No	ClinGen ExAC
rs750546958 CA1419533	175	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750546958 CA345024093	175	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1019154055 CA38540923	175	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
RCV001038017 rs762132510	176	Y>*		No	ClinVar dbSNP
rs774746056 CA1419530	180	R>T		No	ClinGen ExAC gnomAD
CA345024040 rs1559046253	183	I>R		No	ClinGen Ensembl
rs763397871 CA1419528	183	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1337280603 CA345024006	188	T>S		No	ClinGen gnomAD
RCV000955870 CA1419506 rs115347439	190	N>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1419505 rs771654081	190	N>S		No	ClinGen ExAC gnomAD
rs774305381 CA1419503	191	D>E		No	ClinGen ExAC gnomAD
CA1419504 rs747791456	191	D>N		No	ClinGen ExAC gnomAD
CA345023975 rs1365862060	191	D>V		No	ClinGen TOPMed
CA1419502 rs768501353	192	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1419499 rs115282879	194	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345023954 rs1346417022	195	L>M		No	ClinGen gnomAD
rs1318458207 CA345023951	195	L>P		No	ClinGen gnomAD
rs1401774755 CA345023945	196	H>R		No	ClinGen gnomAD
CA1419498 rs769737172	197	T>A		No	ClinGen ExAC gnomAD
rs372548855 CA1419496	198	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419492 rs777965482	202	I>M		No	ClinGen ExAC
rs115137646 CA1419493	202	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1419494 rs191489187	202	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1243897177 CA345023902	203	Y>C		No	ClinGen gnomAD
CA1419491 rs45492299	206	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345023870 rs1402285465	208	V>A		No	ClinGen gnomAD
rs1044082896 CA38540481	208	V>M		No	ClinGen gnomAD
rs750672540 CA38540468	209	G>V		No	ClinGen Ensembl
COSM273688 CA1419487 rs368334549	212	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs760049167 CA1419488	212	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1419485 rs761380197	215	T>A		No	ClinGen ExAC gnomAD
rs1385917532 CA345023824	215	T>I		No	ClinGen gnomAD
rs761380197 CA1419486	215	T>S		No	ClinGen ExAC gnomAD
CA1419484 rs752630752	216	Q>H*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	217	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1425170715 CA345023807	218	I>F		No	ClinGen TOPMed
CA1419483 rs374963238	218	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345023767 rs1353028768	223	E>G		No	ClinGen gnomAD
rs1576098295 CA345023733	227	R>G		No	ClinGen Ensembl
CA345023723 rs142373258	228	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1419450 rs142373258	228	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM904674 rs1274492466 CA345023725	228	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA345023717 rs1315814137	229	T>I		No	ClinGen gnomAD
rs751133639 CA1419449	230	L>M		No	ClinGen ExAC gnomAD
rs763636233 CA1419447	232	I>M		No	ClinGen ExAC
rs1222582443 CA345023696	233	T>P		No	ClinGen gnomAD
rs758128174 CA1419446	234	G>R		No	ClinGen ExAC gnomAD
CA345023683 rs1440419556	235	L>P		No	ClinGen gnomAD
rs1461970235 CA345023663	238	D>G		No	ClinGen TOPMed gnomAD
rs759422312 CA1419443	238	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1419442 rs776260328	239	A>G		No	ClinGen ExAC TOPMed gnomAD
rs766373154 CA1419440	241	K>N		No	ClinGen ExAC gnomAD
TCGA novel	242	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345023616 rs1192835748	245	E>G		No	ClinGen gnomAD
rs1256646454 CA345023620	245	E>K		No	ClinGen TOPMed
CA1419438 rs773293000	246	S>R		No	ClinGen ExAC gnomAD
CA345023599 CA1419437 rs772076723	247	H>Q		No	ClinGen ExAC gnomAD
CA1419434 rs200544450 COSM1501443	249	R>P	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1419435 rs200544450	249	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs574552778 CA1419436	249	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA1419403 rs200715020	250	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA1419401 rs115639846	251	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1187811932 CA345022210	251	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA345022203 rs1237211783	252	Y>H		No	ClinGen TOPMed
CA1419399 rs768868822	253	P>A		No	ClinGen ExAC gnomAD
rs768868822 CA38537838	253	P>S		No	ClinGen ExAC gnomAD
rs201498073 CA1419397	254	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1419395 rs369935667	255	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA38537796 rs145694056	258	V>A		No	ClinGen ESP TOPMed gnomAD
rs770118004 CA1419394	258	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1402329836 CA345022144	259	D>A		No	ClinGen TOPMed
CA38537782 rs946138520	261	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1419393 rs760016927	262	L>V		No	ClinGen ExAC gnomAD
rs771589505 CA1419391	263	C>W		No	ClinGen ExAC TOPMed gnomAD
rs140642925 CA1419389	266	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138645976 CA1419388	270	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA345022075 rs138645976	270	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA345022072 rs1330651651	270	I>T		No	ClinGen TOPMed
CA38537747 rs921212141	274	K>*		No	ClinGen TOPMed
CA345022047 rs921212141	274	K>E		No	ClinGen TOPMed
rs748821904 CA1419387	274	K>N		No	ClinGen ExAC gnomAD
CA1419386 rs376750060	276	K>E		No	ClinGen ESP ExAC TOPMed
CA1419366 rs748792169	281	K>N		No	ClinGen ExAC
CA345021973 rs1204453570	282	S>N		No	ClinGen gnomAD
rs1204453570 CA345021975	282	S>T		No	ClinGen gnomAD
rs1348519358 CA345021955	285	Y>C		No	ClinGen TOPMed gnomAD
rs1281061577 CA345021938	287	T>I		No	ClinGen TOPMed gnomAD
CA345021927 rs1044934286	289	L>P		No	ClinGen gnomAD
CA38537601 rs1044934286	289	L>Q		No	ClinGen gnomAD
rs930566633 CA38537592	290	Q>R		No	ClinGen Ensembl
CA1419362 rs774943839	291	V>A		No	ClinGen ExAC gnomAD
rs550369429 CA1419361	293	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529510505 CA1419359	295	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs529510505 CA1419360	295	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA1419358 rs757054922	295	Q>H		No	ClinGen ExAC gnomAD
rs116456190 CA1419356	296	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1419355 rs116456190	296	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs746796483 CA1419357	296	R>W		No	ClinGen ExAC TOPMed gnomAD
rs752844802 CA1419354	297	T>I		No	ClinGen ExAC
rs972141860 CA38537582	298	L>F		No	ClinGen TOPMed gnomAD
CA1419353 rs765351852	298	L>P		No	ClinGen ExAC gnomAD
CA1419351 rs754179573	300	N>S		No	ClinGen ExAC gnomAD
rs1247345207 CA345021861	301	P>L		No	ClinGen gnomAD
CA1419349 rs141742746	303	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs766612215 CA1419350	303	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA345021822 rs1576091548	307	F>V		No	ClinGen Ensembl
CA345021812 rs1182240173	308	C>S		No	ClinGen TOPMed
CA1419348 rs773599409	310	C>R		No	ClinGen ExAC gnomAD
CA1419347 rs573617463	311	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1576091507 CA345021781	312	V>G		No	ClinGen Ensembl
CA345021785 rs1277972538	312	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1419343 rs745365127	314	G>S		No	ClinGen ExAC TOPMed gnomAD
rs116516791 CA1419342	316	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779044443 CA1419313	318	E>G		No	ClinGen ExAC gnomAD
rs115452233 CA1419314	318	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA345021622 rs1258133211	319	D>E		No	ClinGen TOPMed gnomAD
rs768686642 CA1419312	320	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA345021602 rs1291921350	321	I>V		No	ClinGen TOPMed gnomAD
rs1230557699 CA345021565	323	Y>S		No	ClinGen gnomAD
rs969381263 CA38537379	324	Y>C		No	ClinGen TOPMed gnomAD
CA345021531 rs1219274157	325	T>A		No	ClinGen TOPMed
rs780137081 CA1419310	325	T>I		No	ClinGen ExAC gnomAD
TCGA novel	326	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1419308 rs372305824	326	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs374327294 CA1419309	326	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA345021490 rs1220249059	327	M>I		No	ClinGen TOPMed
CA38537378 rs748371880	328	K>N		No	ClinGen gnomAD
CA1419307 rs369172814	329	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1186003163 CA345021453	330	R>G		No	ClinGen gnomAD
TCGA novel	333	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1419306 rs757665625	333	E>V		No	ClinGen ExAC TOPMed gnomAD
CA345021379 rs1166782486	335	I>T		No	ClinGen gnomAD
rs1248646322 CA345021326	338	E>A		No	ClinGen TOPMed
rs375216322 CA345021297	339	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA38537364 rs555104135	339	E>G		No	ClinGen 1000Genomes
CA1419302 rs533729776	340	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1238341255 CA345021289	340	R>H		No	ClinGen TOPMed gnomAD
rs1238341255 CA345021287	340	R>P		No	ClinGen TOPMed gnomAD
rs772977492 CA1419300	342	V>F		No	ClinGen ExAC TOPMed gnomAD
rs772977492 CA1419299	342	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	343	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771828979 CA1419298	343	Q>R		No	ClinGen ExAC gnomAD
CA345021199 rs1576090750	344	D>A		No	ClinGen Ensembl
CA345021189 rs1322913188	345	Q>E		No	ClinGen gnomAD
rs1286669988 CA345021126	348	G>E		No	ClinGen gnomAD
CA1419297 rs761742818	348	G>R		No	ClinGen ExAC gnomAD
CA345021094 rs1224561892	349	M>I		No	ClinGen gnomAD
CA345021069 rs1379588540	350	A>D		No	ClinGen gnomAD
rs768741568 CA1419294 COSM404484	352	V>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1419292 rs779848348	353	T>I		No	ClinGen ExAC TOPMed gnomAD
CA345021025 rs779848348	353	T>S		No	ClinGen ExAC TOPMed gnomAD
rs551246274 CA38537281	358	S>F		No	ClinGen 1000Genomes
CA345020947 rs1380713722	359	M>L		No	ClinGen TOPMed gnomAD
rs543171714 CA1419288	359	M>T		No	ClinGen ExAC gnomAD
CA345020945 rs1380713722	359	M>V		No	ClinGen TOPMed gnomAD
CA1419286 rs751941977	362	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs900135589 CA38536592	363	I>V		No	ClinGen Ensembl
rs1264332566 CA345020328	364	L>P		No	ClinGen gnomAD
rs1264332566 CA345020330	364	L>R		No	ClinGen gnomAD
CA345020317 rs1210705491 COSM3804095	366	D>Y	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1343323759 CA345020306	367	F>C		No	ClinGen gnomAD
CA345020305 rs1257923261	367	F>L		No	ClinGen gnomAD
rs116013256 CA1419268	368	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146601568 CA1419267	369	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419266 rs747166464	370	C>W		No	ClinGen ExAC gnomAD
CA38536573 rs1011701834	371	K>N		No	ClinGen gnomAD
CA345020218 rs1576088379	372	C>S		No	ClinGen Ensembl
rs1489521319 CA345020196 COSM533090	373	Q>H	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1341125155 CA345020200	373	Q>R		No	ClinGen gnomAD
rs777967561 CA1419265	374	S>G		No	ClinGen ExAC gnomAD
rs946912926 CA38536563	374	S>N		No	ClinGen TOPMed gnomAD
rs1052834204 CA345020144 CA345020146	376	Q>H		No	ClinGen TOPMed gnomAD
CA38536556 rs922141252	379	G>R		No	ClinGen TOPMed
TCGA novel	380	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345020044 rs1404109742	382	Q>P		No	ClinGen gnomAD
TCGA novel	382	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345020029 rs1461208949	383	P>A		No	ClinGen gnomAD
CA1419263 rs748440868	383	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1172266821 CA345020012	384	S>T		No	ClinGen gnomAD
CA345019977 rs1187885391	386	H>R		No	ClinGen gnomAD
rs114853295 CA1419260	391	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749973022 CA1419259	392	T>A		No	ClinGen ExAC gnomAD
CA1419256 rs756978095	398	T>I		No	ClinGen ExAC gnomAD
CA345019826 rs1559041696	399	F>I		No	ClinGen Ensembl
rs919882812 CA38536483	401	A>G		No	ClinGen gnomAD
CA1419253 rs763812477	401	A>S		No	ClinGen ExAC gnomAD
rs763812477 CA1419252	401	A>T		No	ClinGen ExAC gnomAD
rs919882812 CA345019810	401	A>V		No	ClinGen gnomAD
rs911881094 CA38536465	402	D>E		No	ClinGen TOPMed gnomAD
CA1419251 rs762843499	402	D>N		No	ClinGen ExAC gnomAD
rs775104407 CA1419250	403	P>A		No	ClinGen ExAC gnomAD
rs765241071 CA1419249	403	P>R		No	ClinGen ExAC gnomAD
CA1419247 rs776695742	408	W>*		No	ClinGen ExAC gnomAD
rs749645088 CA1419220	411	L>P		No	ClinGen ExAC TOPMed gnomAD
CA345018907 rs1204507320	414	Q>*		No	ClinGen gnomAD
TCGA novel	414	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	416	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1419217 rs770381793	417	R>C		No	ClinGen ExAC TOPMed gnomAD
rs746536484 CA1419216	417	R>H		No	ClinGen ExAC TOPMed gnomAD
CA38535456 rs1045597515	422	W>*		No	ClinGen Ensembl
rs777088826 CA1419215	424	G>R		No	ClinGen ExAC gnomAD
CA345018453 rs752358693	425	I>N		No	ClinGen ExAC gnomAD
CA1419213 rs752358693	425	I>T		No	ClinGen ExAC gnomAD
rs778614695 CA1419212	426	N>K		No	ClinGen ExAC
rs754816246 CA1419211	428	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1419210 rs753599553	429	L>V		No	ClinGen ExAC gnomAD
rs1160884835 CA345018131	432	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs760559507 CA1419207	436	L>P		No	ClinGen ExAC
rs149848059 CA1419206	437	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA345017952 rs1208380892	439	P>R		No	ClinGen TOPMed
rs761952080 CA1419204	439	P>S		No	ClinGen ExAC gnomAD
rs915136067 CA38535356	441	I>V		No	ClinGen TOPMed
CA345017867 rs1265050049	445	T>A		No	ClinGen gnomAD
rs982550757 CA38535342	446	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA345017682 rs1184217880	451	V>G		No	ClinGen TOPMed
TCGA novel	452	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs114874822 CA38535337	457	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
TCGA novel	458	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276006170 CA345017408	459	N>S		No	ClinGen gnomAD
rs1280595835 CA345016217	460	N>T		No	ClinGen TOPMed gnomAD
rs776000468 COSM904672 CA1419181	461	P>L	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs1215391754 CA345016143	464	S>T		No	ClinGen TOPMed
CA1419178 rs777052443	470	L>F		No	ClinGen ExAC gnomAD
CA345015951 rs139209425	474	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA38533633 rs1040455760	474	S>T		No	ClinGen Ensembl
CA1419175 rs139209425	474	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419174 rs768312567	475	F>V		No	ClinGen ExAC gnomAD
rs912360052 CA38533627	476	S>L		No	ClinGen gnomAD
rs779679456 CA1419172	479	L>F		No	ClinGen ExAC gnomAD
CA345015876 rs1183450420	480	P>L		No	ClinGen gnomAD
rs1183450420 CA345015878	480	P>R		No	ClinGen gnomAD
CA1419170 rs186710219	481	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1168141825 CA345015770	486	S>F		No	ClinGen TOPMed
rs757166107 CA1419168	487	T>I		No	ClinGen ExAC gnomAD
TCGA novel	489	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321709889 CA345015698	490	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1419163 rs758545850	490	E>Q		No	ClinGen ExAC gnomAD
rs753026260 CA1419162	492	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765534154 CA1419160	494	T>S		No	ClinGen ExAC gnomAD
CA38533275 rs979972451	495	K>N		No	ClinGen TOPMed gnomAD
CA1419138 rs766702251	496	S>L		No	ClinGen ExAC TOPMed gnomAD
CA1419136 rs202236133	497	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419134 CA345015501 rs767993739	498	E>D		No	ClinGen ExAC gnomAD
CA1419133 rs372366088	499	N>K		No	ClinGen ExAC TOPMed gnomAD
CA345015497 rs1238990869	499	N>Y		No	ClinGen TOPMed
rs769342057 CA1419131	502	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1559038578 CA345015452	502	M>L		No	ClinGen Ensembl
CA1419132 rs367878173	502	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419130 rs759158194	504	T>S		No	ClinGen ExAC gnomAD
rs1280028128 CA345015397	505	K>N		No	ClinGen TOPMed
rs1339842359 CA345015402	505	K>R		No	ClinGen gnomAD
CA1419129 rs527273477	508	I>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	508	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746756700 CA1419127	513	M>V		No	ClinGen ExAC gnomAD
CA1419125 rs772094659	516	I>F		No	ClinGen ExAC gnomAD
CA1419124 rs748261411	519	S>F		No	ClinGen ExAC gnomAD
rs1392694320 CA345015082	524	S>G		No	ClinGen gnomAD
rs780368313 CA1419099	529	F>I		No	ClinGen ExAC gnomAD
rs1256288389 CA345014805	529	F>L		No	ClinGen gnomAD
CA345014802 rs370848969	530	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419098 rs370848969	530	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1286811437 CA345014803 COSM904671	530	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs200316385 CA38532513	531	W>*		No	ClinGen 1000Genomes
CA1419095 rs138154690	533	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419094 rs757608415	538	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1283510419 CA345014745	539	E>Q		No	ClinGen gnomAD
CA38532477 rs1020301097	540	A>V		No	ClinGen Ensembl
rs1386874634 CA345014733	541	S>T		No	ClinGen TOPMed
CA1419090 rs753239436	542	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA345013921 rs1487176714	546	C>Y		No	ClinGen gnomAD
rs759582890 CA1419061	547	V>F		No	ClinGen ExAC gnomAD
rs1343707087 CA345013885	549	L>M		No	ClinGen gnomAD
CA345013853 rs1284470073	551	D>E		No	ClinGen gnomAD
CA1419057 rs747432606	554	A>S		No	ClinGen ExAC gnomAD
CA38531122 rs547841434	555	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs878975890 CA38531118	557	V>E		No	ClinGen Ensembl
CA345013741 rs1401600234	559	Y>C		No	ClinGen TOPMed gnomAD
rs151242805 CA1419056	561	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419055 rs772645534	562	A>T		No	ClinGen ExAC TOPMed gnomAD
rs149216134 CA1419054	563	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs755723413 CA1419052	566	I>F		No	ClinGen ExAC TOPMed gnomAD
rs755723413 CA345013661	566	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	567	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1419050 rs373721455	568	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA345013619 rs1323595848	569	G>D		No	ClinGen gnomAD
rs756925175 CA1419049	569	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1323595848 CA345013615	569	G>V		No	ClinGen gnomAD
CA345013612 rs1325223958	570	M>L		No	ClinGen TOPMed
rs146699794 CA1419047	570	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1419046 rs762806303	572	L>Q		No	ClinGen ExAC gnomAD
rs369519987 CA1419043	574	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1419044 rs765139600	574	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775295346 CA38531061	579	I>F		No	ClinGen gnomAD
CA345013495 rs1169909794	580	L>F		No	ClinGen gnomAD
CA1419042 rs376838971	580	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1004604363 CA345013482	581	Y>C		No	ClinGen gnomAD
rs1004604363 CA38531043	581	Y>F		No	ClinGen gnomAD
CA38531053 rs377043894	581	Y>H		No	ClinGen Ensembl
CA345013467 rs1186961513	582	T>I		No	ClinGen TOPMed gnomAD
rs75188792 CA1419041	584	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760750326 CA1419040 COSM1473452	584	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA38531039 rs960670575	585	M>T		No	ClinGen TOPMed
CA345013438 rs1461403517	585	M>V		No	ClinGen TOPMed gnomAD
rs1198585456 CA345013404	587	M>V		No	ClinGen gnomAD
CA1419039 COSM904670 rs552485282	590	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs759219656 CA38531030	593	D>E		No	ClinGen gnomAD
rs1282681775 CA345013322	593	D>G		No	ClinGen gnomAD
TCGA novel	593	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1419036 rs184214838	594	R>C		No	ClinGen 1000Genomes
CA1419035 rs200900214	594	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA345013305 rs200900214	594	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1419034 rs779609845	599	Q>E		No	ClinGen ExAC gnomAD
CA345012805 rs1213860211	601	Q>E		No	ClinGen gnomAD
CA345012789 rs1318837647	602	A>S		No	ClinGen gnomAD
CA345012779 rs1307718845	602	A>V		No	ClinGen gnomAD
CA345012761 rs1559035735	604	Q>*		No	ClinGen Ensembl
rs776139628 CA1419010	604	Q>R		No	ClinGen ExAC gnomAD
CA1419009 rs372983742	606	E>Q		No	ClinGen ESP ExAC gnomAD
CA345012714 rs1270579150	607	F>S		No	ClinGen TOPMed
rs142731715 CA1419008	608	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA345012703 rs1405381054	608	G>R		No	ClinGen gnomAD
rs1207718509 CA345012674	610	M>I		No	ClinGen gnomAD
CA1419007 rs576201370	610	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1454975259 CA345012678	610	M>T		No	ClinGen gnomAD
CA345012653 rs1345278362	612	A>P		No	ClinGen TOPMed gnomAD
rs1345278362 CA345012655	612	A>S		No	ClinGen TOPMed gnomAD
CA38528527 rs942669306	612	A>V		No	ClinGen Ensembl
rs747941663 CA1419005	613	W>*		No	ClinGen ExAC TOPMed gnomAD
CA1419006 rs758031250	613	W>R		No	ClinGen ExAC gnomAD
CA1419004 rs778622132	614	M>I		No	ClinGen ExAC gnomAD
rs754752907 CA1419003	615	L>R		No	ClinGen ExAC gnomAD
CA1419002 rs753839471	616	C>Y		No	ClinGen ExAC gnomAD
CA38528502 rs368338263	620	V>I		No	ClinGen Ensembl
rs370524375 CA1419000	621	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1009668 CA345012537	622	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1009668 CA1418999 VAR_031191	622	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1428076815 CA345012525	623	A>P		No	ClinGen TOPMed
COSM173099 rs1264969151 CA345012498	625	S>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs377135043 CA1418997	626	I>M		No	ClinGen ESP ExAC gnomAD
rs113994916 CA1418996	627	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113994916 CA345012468	627	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1328741370 CA345012441	629	P>L		No	ClinGen TOPMed
rs1301343783 CA345012450	629	P>S		No	ClinGen TOPMed
rs774865665 CA1418995	631	I>S		No	ClinGen ExAC TOPMed gnomAD
rs763382932 CA1418993	632	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs116201959 CA1418992	632	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1407606946 CA345012413	633	P>L		No	ClinGen gnomAD
rs115530894 CA1418964	636	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1418963 rs115530894	636	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745872415 CA1418961	637	I>T		No	ClinGen ExAC gnomAD
rs201162140 COSM1581841 CA1418962	637	I>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1052683946 CA38526620	639	I>V		No	ClinGen TOPMed gnomAD
CA1418958 rs751643225	641	L>F		No	ClinGen ExAC gnomAD
rs1393594091 CA345011812	643	H>Q		No	ClinGen gnomAD
rs778175774 CA345011810	644	M>L		No	ClinGen ExAC gnomAD
CA345011801 rs1369304234	644	M>T		No	ClinGen TOPMed
rs778175774 CA1418957	644	M>V		No	ClinGen ExAC gnomAD
rs759956033 CA38526598	645	V>M		No	ClinGen Ensembl
CA345011784 rs1177512352	646	D>Y		No	ClinGen gnomAD
rs753018849 CA1418955	647	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1418956 rs758628572	647	R>W		No	ClinGen ExAC gnomAD
TCGA novel	648	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1051979369 CA38526592	649	N>S		No	ClinGen TOPMed
CA1418953 rs765691279	651	Y>C		No	ClinGen ExAC gnomAD
CA345011718 rs1469722818	651	Y>D		No	ClinGen gnomAD
CA1418951 rs145863221	653	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1418950 rs766848700	654	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA345011673 rs766848700	654	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs761332479 CA1418949	655	L>P		No	ClinGen ExAC
CA345011626 rs1490772902	657	A>T		No	ClinGen gnomAD
CA1418947 rs768300074	658	K>R		No	ClinGen ExAC gnomAD
CA1418946 rs762605479	663	I>N		No	ClinGen ExAC TOPMed gnomAD
CA345011453 rs1241807622	664	H>Q		No	ClinGen gnomAD
rs947449115 CA38526505	665	F>I		No	ClinGen Ensembl
CA345011387 rs146840117	667	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1418943 rs146840117	667	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1418942 rs543998533	667	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs747092012 CA38526481	671	A>P		No	ClinGen ExAC TOPMed gnomAD
rs747092012 CA1418940	671	A>T		No	ClinGen ExAC TOPMed gnomAD
CA345011275 rs1576067327	673	A>T		No	ClinGen Ensembl
CA1418938 rs758539519	674	A>D		No	ClinGen ExAC gnomAD
CA345011229 rs1160439099	676	I>V		No	ClinGen gnomAD
CA345011186 rs1454362149	678	C>F		No	ClinGen gnomAD
rs1187140434 CA345011192	678	C>R		No	ClinGen TOPMed
CA345011144 rs1559033511	681	W>R		No	ClinGen Ensembl
CA345011058 rs1269268596	684	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	684	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1418935 rs770412529	684	F>Y		No	ClinGen ExAC gnomAD
CA1418933 rs766901624	686	S>P		No	ClinGen ExAC gnomAD
CA345010984 rs1444853583	687	F>Y		No	ClinGen gnomAD
CA1418932 rs762379887	689	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1446214507 CA345010523	692	M>L		No	ClinGen gnomAD
rs1334699076 CA345010521	692	M>T		No	ClinGen gnomAD
rs1454641185 CA345010515	693	K>E		No	ClinGen gnomAD
CA345010506 rs1406806699	694	A>D		No	ClinGen gnomAD
rs1031699711 CA38525770	694	A>P		No	ClinGen Ensembl
CA345010502 rs756452406	695	P>A		No	ClinGen ExAC gnomAD
rs750992101 CA1418914	695	P>L		No	ClinGen ExAC gnomAD
CA1418915 rs756452406	695	P>S		No	ClinGen ExAC gnomAD
rs376648031 COSM904668 CA1418911	696	A>T	endometrium Variant assessed as Somatic; 6.027e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed
CA345010495 rs1443562138	696	A>V		No	ClinGen gnomAD
rs199899559 CA38525716	697	T>I		No	ClinGen 1000Genomes
rs1184964772 CA345010489	698	L>M		No	ClinGen gnomAD
rs907269802 CA38525715	700	T>A		No	ClinGen Ensembl
CA345010472 rs1204389887	700	T>I		No	ClinGen gnomAD
CA345010462 rs1436453622	702	L>V		No	ClinGen TOPMed gnomAD
rs1275483902 CA345010458	703	V>M		No	ClinGen gnomAD
rs1297564525 CA345010428	708	I>F		No	ClinGen TOPMed gnomAD
TCGA novel	708	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766346141 CA1418904	708	I>M		No	ClinGen ExAC gnomAD
rs776410741 CA1418905	708	I>S		No	ClinGen ExAC gnomAD
CA345010430 rs1297564525	708	I>V		No	ClinGen TOPMed gnomAD
CA38525684 rs368128506	710	V>A		No	ClinGen ESP gnomAD
CA1418901 rs568592632	711	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA345010399 rs1444747295	713	A>G		No	ClinGen gnomAD
rs748290582 CA1418900	714	H>D		No	ClinGen ExAC gnomAD
CA1418898 rs768932916	715	T>I		No	ClinGen ExAC gnomAD
rs1021981650 CA38525655	716	C>R		No	ClinGen TOPMed
CA1418897 rs749565228	716	C>Y		No	ClinGen ExAC gnomAD
CA1418896 rs765505351	717	F>S		No	ClinGen ExAC TOPMed gnomAD
CA1418894 rs746185601	718	G>A		No	ClinGen ExAC gnomAD
CA345010345 rs1289909472	718	G>R		No	ClinGen gnomAD
CA345010301 rs1322425644	720	F>L		No	ClinGen gnomAD
TCGA novel	722	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781689352 CA1418893	722	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1306303578 CA345010280	722	H>Y		No	ClinGen gnomAD
COSM3943503 CA345010267 rs1375517301	723	L>F	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	724	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	725	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345010070 rs1192578785	730	T>R		No	ClinGen Ensembl
rs963993065 CA38525286	733	P>L		No	ClinGen TOPMed
rs1202963863 CA345010033	733	P>S		No	ClinGen TOPMed gnomAD
rs771315045 CA1418869	734	A>T		No	ClinGen ExAC gnomAD
CA1418868 rs747537243	735	S>G		No	ClinGen ExAC TOPMed gnomAD
CA345010010 rs1233763093	735	S>N		No	ClinGen gnomAD
rs778314352 CA1418867	737	K>E		No	ClinGen ExAC TOPMed gnomAD
CA345009986 rs778314352	737	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA1418865 rs115883015	740	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1418864 rs545829694	741	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1449823864 CA345009898	741	A>V		No	ClinGen gnomAD
rs755760581 CA1418863	743	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1023014137 CA38525238	745	M>I		No	ClinGen TOPMed gnomAD
CA1418862 rs750256409	746	P>S		No	ClinGen ExAC gnomAD
CA345009760 rs1430454369	747	P>L		No	ClinGen gnomAD
CA1418860 rs200799790	747	P>S		No	ClinGen ExAC gnomAD
rs761660004 CA1418859	748	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA345009716 rs1460017111	749	F>L		No	ClinGen gnomAD
CA38525222 rs1037526805	750	T>I		No	ClinGen Ensembl
CA1418833 rs58852301	751	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1418832 rs200897453	752	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA345008597 COSM1229716 rs1158691862	752	Y>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs557116423 CA1418830	753	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1418828 rs766575680	754	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1418826 rs773556605	755	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760976579 CA1418827	755	R>W		No	ClinGen ExAC gnomAD
CA1418825 rs772718652	756	I>V		No	ClinGen ExAC gnomAD
rs145910502 CA38524162	759	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs145910502 CA1418823	759	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1418821 rs745358141 CA1418822	760	L>F		No	ClinGen ExAC gnomAD
rs780727416 CA1418820	762	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	762	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345008402 rs1312967279	763	E>K		No	ClinGen TOPMed
rs1267846331 CA345008382	764	R>T		No	ClinGen gnomAD
rs1196840086 CA345008373	765	T>A		No	ClinGen gnomAD
rs746795549 CA1418818	765	T>I		No	ClinGen ExAC gnomAD
rs758189012 CA1418816	766	A>V		No	ClinGen ExAC gnomAD
CA1418814 rs765137739	767	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1311406419 CA345008341	768	S>T		No	ClinGen TOPMed
CA1418812 rs543585499	769	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1418810 rs760892222	770	Q>R		No	ClinGen ExAC gnomAD
CA38524055 rs1038279638	771	Q>R		No	ClinGen TOPMed
rs1334057499 CA345008293	772	Q>*		No	ClinGen TOPMed gnomAD
CA1418809 rs374322367	773	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1418808 rs193031527	775	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA345008249 rs1380974669	777	Y>*		No	ClinGen TOPMed
CA345008251 rs1381758802	777	Y>C		No	ClinGen gnomAD
rs1559031074 CA345008253	777	Y>D		No	ClinGen Ensembl
rs141158178 CA1418801	778	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1576060731 CA345008240	779	A>P		No	ClinGen Ensembl
rs751823909 CA1418800	780	I>M		No	ClinGen ExAC TOPMed gnomAD
CA38524014 rs551210972	780	I>T		No	ClinGen Ensembl
rs769234490 CA1418799	782	N>I		No	ClinGen ExAC TOPMed gnomAD
rs776152722 CA1418796	785	G>E		No	ClinGen ExAC TOPMed gnomAD
COSM3376994 CA1418797 rs371101906	785	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA345008120 rs1444801702	787	I>L		No	ClinGen gnomAD
rs1277354293 CA345008115	787	I>T		No	ClinGen gnomAD
CA1418793 rs572303390	788	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs746747329 CA1418794	788	P>S		No	ClinGen ExAC gnomAD
rs144560491 CA1418792	789	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA345008076 rs1263039802	790	Q>P		No	ClinGen gnomAD
TCGA novel	793	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1418791 COSM1339267 rs145042946	793	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA345008019 COSM79302 rs1275691433	794	Q>*	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs754876677 CA1418789	796	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1418788 rs371169629	797	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1418787 rs371169629	797	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405322540 CA345007957	798	G>D		No	ClinGen gnomAD
rs750710174 CA1418785	799	S>C		No	ClinGen ExAC gnomAD
CA1418784 rs767822076	799	S>N		No	ClinGen ExAC gnomAD
CA345007896 rs1457359994	802	A>V		No	ClinGen TOPMed
rs756941718	805	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA38523912 rs1023969223	807	A>S		No	ClinGen TOPMed

1 associated diseases with O94886

[MIM: 618688]: Leukodystrophy, hypomyelinating, 19, transient infantile (HLD19)

An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. {ECO:0000269|PubMed:31587869}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. {ECO:0000269|PubMed:31587869}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for O94886

Type	Name	Position	InterPro Accession
domain	CSC1/OSCA1-like, 7TM region	422 - 692	IPR003864
domain	CSC1/OSCA1-like, cytosolic domain	228 - 410	IPR027815
domain	CSC1/OSCA1-like, N-terminal transmembrane domain	53 - 210	IPR032880

Functions

		Description
EC Number
Subcellular Localization	Lysosome membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
centriolar satellite	A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
specific granule membrane	The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.
tertiary granule membrane	The lipid bilayer surrounding a tertiary granule.

4 GO annotations of molecular function

Name	Definition
calcium activated cation channel activity	Enables the calcium concentration-regulatable energy-independent passage of cations across a lipid bilayer down a concentration gradient.
mechanosensitive ion channel activity	Enables the transmembrane transfer of an ion by a channel that opens in response to a mechanical stress.
nucleic acid binding	Binding to a nucleic acid.
osmolarity-sensing cation channel activity	Enables the transmembrane transfer of a cation by a channel that opens when a change in the osmolarity occurs in the extracellular space of the cell in which the cation channel resides.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9P1W3	TMEM63C	Calcium permeable stress-gated cation channel 1	Homo sapiens (Human)	PR
Q5T3F8	TMEM63B	CSC1-like protein 2	Homo sapiens (Human)	PR
Q91YT8	Tmem63a	CSC1-like protein 1	Mus musculus (Mouse)	PR
Q94A87	At1g10090	CSC1-like protein At1g10090	Arabidopsis thaliana (Mouse-ear cress)	PR
B5TYT3	At1g11960	CSC1-like protein At1g11960	Arabidopsis thaliana (Mouse-ear cress)	PR
F4IBD7	RXW8	CSC1-like protein RXW8	Arabidopsis thaliana (Mouse-ear cress)	PR
F4HYR3	At1g62320	CSC1-like protein At1g62320	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9XEA1	OSCA1	Protein OSCA1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q5XEZ5	CSC1	Calcium permeable stress-gated cation channel 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MMDSPFLELW	QSKAVSIREQ	LGLGDRPNDS	YCYNSAKNST	VLQGVTFGGI	PTVLLIDVSC
70	80	90	100	110	120
FLFLILVFSI	IRRRFWDYGR	IALVSEADSE	SRFQRLSSTS	SSGQQDFENE	LGCCPWLTAI
130	140	150	160	170	180
FRLHDDQILE	WCGEDAIHYL	SFQRHIIFLL	VVVSFLSLCV	ILPVNLSGDL	LDKDPYSFGR
190	200	210	220	230	240
TTIANLQTDN	DLLWLHTIFA	VIYLFLTVGF	MRHHTQSIKY	KEENLVRRTL	FITGLPRDAR
250	260	270	280	290	300
KETVESHFRD	AYPTCEVVDV	QLCYNVAKLI	YLCKEKKKTE	KSLTYYTNLQ	VKTGQRTLIN
310	320	330	340	350	360
PKPCGQFCCC	EVLGCEWEDA	ISYYTRMKDR	LLERITEEER	HVQDQPLGMA	FVTFQEKSMA
370	380	390	400	410	420
TYILKDFNAC	KCQSLQCKGE	PQPSSHSREL	YTSKWTVTFA	ADPEDICWKN	LSIQGLRWWL
430	440	450	460	470	480
QWLGINFTLF	LGLFFLTTPS	IILSTMDKFN	VTKPIHALNN	PIISQFFPTL	LLWSFSALLP
490	500	510	520	530	540
SIVYYSTLLE	SHWTKSGENQ	IMMTKVYIFL	IFMVLILPSL	GLTSLDFFFR	WLFDKTSSEA
550	560	570	580	590	600
SIRLECVFLP	DQGAFFVNYV	IASAFIGNGM	ELLRLPGLIL	YTFRMIMAKT	AADRRNVKQN
610	620	630	640	650	660
QAFQYEFGAM	YAWMLCVFTV	IVAYSITCPI	IAPFGLIYIL	LKHMVDRHNL	YFVYLPAKLE
670	680	690	700	710	720
KGIHFAAVNQ	ALAAPILCLF	WLYFFSFLRL	GMKAPATLFT	FLVLLLTILV	CLAHTCFGCF
730	740	750	760	770	780
KHLSPLNYKT	EEPASDKGSE	AEAHMPPPFT	PYVPRILNGL	ASERTALSPQ	QQQQQTYGAI
790	800
HNISGTIPGQ	CLAQSATGSV	AAAPQEA