AiPD: Autoinhibited Protein Database

Q86WA9

Gene name	SLC26A11
Protein name	Sodium-independent sulfate anion transporter
Names	Solute carrier family 26 member 11
Species	Homo sapiens (Human)
KEGG Pathway	hsa:284129
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-46 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-46 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q86WA9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86WA9-F1	Predicted				AlphaFoldDB

568 variants for Q86WA9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8818225 rs756288564	2	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8818224 rs756288564	2	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8818226 rs749266673	3	S>F		No	ClinGen ExAC TOPMed gnomAD
CA401366158 rs1196576552	4	S>*		No	ClinGen TOPMed gnomAD
CA8818227 rs771043425	5	V>G		No	ClinGen ExAC TOPMed gnomAD
CA401366182 rs1186384730	6	T>K		No	ClinGen gnomAD
rs1186384730 CA401366188	6	T>M		No	ClinGen gnomAD
CA8818228 rs561848151	7	A>G		No	ClinGen ExAC TOPMed gnomAD
rs561848151 CA8818229	7	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8818231 rs775389353	8	L>Q		No	ClinGen ExAC gnomAD
CA8818232 rs746824309	9	G>V		No	ClinGen ExAC gnomAD
rs768366152 CA8818233	12	R>G		No	ClinGen ExAC gnomAD
CA401366287 rs1401469650	12	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8818234 rs561639116	13	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs764858387 CA8818236	14	S>C		No	ClinGen ExAC gnomAD
CA8818237 rs774697312	15	G>A		No	ClinGen ExAC gnomAD
rs768042728 CA8818239	18	M>L		No	ClinGen ExAC gnomAD
rs1187581796 CA401366366	19	A>T		No	ClinGen TOPMed
CA401366383 rs1598779534	20	P>A		No	ClinGen Ensembl
rs753007585 CA401366389	20	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8818240 rs753007585	20	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8818242 rs146795725	21	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401366404 rs754153623	21	S>R		No	ClinGen ExAC TOPMed gnomAD
COSM3691913 CA294901626 rs986227818	22	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA401366441 rs1278806007	24	C>S		No	ClinGen TOPMed
CA294901634 rs1046170087	27	P>L		No	ClinGen Ensembl
CA401366483 rs1046170087	27	P>R		No	ClinGen Ensembl
rs745969268 CA8818246	28	A>E		No	ClinGen ExAC TOPMed gnomAD
rs745969268 CA401366493	28	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1424889074 CA401366507	29	A>V		No	ClinGen gnomAD
rs76464091 CA8818248	30	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401366519 rs1171132401	31	Q>*		No	ClinGen gnomAD
rs1395418414 CA401366541	32	R>T		No	ClinGen TOPMed
rs1404677562 CA401366548	33	R>G		No	ClinGen gnomAD
rs1598779844 CA401366554	33	R>M		No	ClinGen Ensembl
CA8818252 rs370502982	35	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818251 rs776410925	35	P>S		No	ClinGen ExAC gnomAD
CA401366580 rs1280022460	36	I>V		No	ClinGen gnomAD
rs1237367714 CA401366595	37	L>Q		No	ClinGen gnomAD
rs551429137 CA8818255	38	A>V		No	ClinGen 1000Genomes ExAC TOPMed
TCGA novel	40	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401366663 rs144562896	42	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401366674 rs1350966127	43	Y>C		No	ClinGen gnomAD
CA294901655 rs888376925	44	S>F		No	ClinGen TOPMed gnomAD
rs148454524 CA401366692	45	L>P		No	ClinGen ExAC TOPMed gnomAD
rs148454524 CA8818261	45	L>R		No	ClinGen ExAC TOPMed gnomAD
CA401366724 rs1598780221	50	M>V		No	ClinGen Ensembl
rs1433087773 CA401366734	51	D>N		No	ClinGen gnomAD
rs941955741 CA294901662	53	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8818262 rs372017696	54	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372017696 CA8818263	54	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818265 rs750461173	55	G>A		No	ClinGen ExAC gnomAD
rs1598780316 CA401366765	55	G>C		No	ClinGen Ensembl
rs750461173 CA401366770	55	G>D		No	ClinGen ExAC gnomAD
rs368234615 CA8818266	58	V>G		No	ClinGen ExAC TOPMed gnomAD
CA401366812 rs1386140049	59	G>D		No	ClinGen gnomAD
rs1385633763 CA401366806	59	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1598780434 CA401366823	60	L>F		No	ClinGen Ensembl
rs780138047 CA8818267	62	A>G		No	ClinGen ExAC gnomAD
rs1444775354 CA401366843	62	A>T		No	ClinGen TOPMed
rs142733492 CA294901673	63	I>V		No	ClinGen ESP TOPMed gnomAD
TCGA novel	64	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218219651 CA401366898	66	A>S		No	ClinGen gnomAD
rs375394500 CA8818268	66	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818269 rs754796731	68	A>S		No	ClinGen ExAC gnomAD
rs1030841823 CA294901679	68	A>V		No	ClinGen Ensembl
CA401366929 rs1379126138	69	Y>H		No	ClinGen TOPMed
rs1156478178 CA401366932	69	Y>S		No	ClinGen TOPMed
rs371832198 CA8818270	76	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1441113942 CA401367019	76	P>S		No	ClinGen TOPMed
CA8818271 rs368571336	77	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA401367044 rs1598780736	78	Q>P		No	ClinGen Ensembl
rs766616994 CA8818284	79	Y>C		No	ClinGen ExAC
CA401367592 rs1448643453	79	Y>H		No	ClinGen TOPMed gnomAD
CA401367613 rs1298398134	80	G>D		No	ClinGen TOPMed gnomAD
CA8818288 rs752477881	83	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8818287 rs781013597	83	S>P		No	ClinGen ExAC gnomAD
rs1256655675 CA401367664	85	F>I		No	ClinGen gnomAD
rs755862160 CA8818289	85	F>L		No	ClinGen ExAC gnomAD
rs141472706 CA8818290	86	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401367685 rs1435286589	86	M>R		No	ClinGen gnomAD
rs141472706 CA8818291	86	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1482383854 CA401367721	89	F>I		No	ClinGen gnomAD
CA294901935 rs190898093	90	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs1192875146 CA401367747	91	Y>C		No	ClinGen gnomAD
CA8818295 rs769151850	96	T>I		No	ClinGen ExAC gnomAD
rs1598784885 CA401367806	96	T>P		No	ClinGen Ensembl
rs139873166 CA8818298	98	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM985572 CA8818297 rs139873166	98	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs202220608 CA8818296	98	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567941336	101	T>R		No	Ensembl
rs763305292 CA401367891	103	G>A		No	ClinGen ExAC gnomAD
rs763305292 CA8818300	103	G>V		No	ClinGen ExAC gnomAD
CA401367902 rs1234386670	104	P>R		No	ClinGen TOPMed
CA8818301 rs766737530	105	T>P		No	ClinGen ExAC gnomAD
CA8818303 rs373473890	106	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs145333794 CA8818304	107	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401367984 rs1055185344	111	L>V		No	ClinGen TOPMed
rs755921379 CA8818307	114	F>V		No	ClinGen ExAC gnomAD
rs777474848 CA8818308	115	Y>F		No	ClinGen ExAC gnomAD
CA8818309 rs142468357	116	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1598785105 CA401368046	116	T>P		No	ClinGen Ensembl
CA8818312 rs778554491	118	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8818313 rs745319776	119	E>K		No	ClinGen ExAC gnomAD
rs376946563 CA8818316	121	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8818315 rs376946563	121	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA294901977 rs146924772	122	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_068239 CA8818317 rs765188926	122	Y>C		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs753543137 CA294901979	123	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8818319 rs749690412	123	A>V		No	ClinGen ExAC gnomAD
rs1274695318 CA401368173	126	L>V		No	ClinGen TOPMed gnomAD
rs1365948218 CA401368191	127	A>V		No	ClinGen gnomAD
CA401368215 rs1221230423	129	L>P		No	ClinGen TOPMed gnomAD
rs1567941584 CA401368219	130	S>T		No	ClinGen Ensembl
CA401368233 rs374746901	131	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8818323 rs374746901	131	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8818324 rs775474106	132	C>F		No	ClinGen ExAC gnomAD
CA8818325 rs775474106	132	C>Y		No	ClinGen ExAC gnomAD
CA8818327 rs753576667	135	L>M		No	ClinGen ExAC gnomAD
CA8818328 rs757053859	136	A>S		No	ClinGen ExAC gnomAD
rs1245985694 CA401368306	137	M>V		No	ClinGen gnomAD
CA8818329 rs764866670	138	G>E		No	ClinGen ExAC TOPMed gnomAD
rs757904651 CA8818331	141	R>C		No	ClinGen ExAC gnomAD
rs779471971 CA8818332	141	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401368345 rs779471971	141	R>L		No	ClinGen ExAC TOPMed gnomAD
rs779471971 CA401368344	141	R>P		No	ClinGen ExAC TOPMed gnomAD
rs778437437 CA8818335	142	L>F		No	ClinGen ExAC gnomAD
CA8818334 rs756529163	142	L>S		No	ClinGen ExAC TOPMed gnomAD
rs148979132 CA294902142	143	G>A		No	ClinGen ESP
CA401368428 rs1317077913	144	F>L		No	ClinGen gnomAD
rs1317077913 CA401368430	144	F>V		No	ClinGen gnomAD
rs1598786728 CA401368480	147	D>A		No	ClinGen Ensembl
CA401368478 rs1453359437	147	D>N		No	ClinGen TOPMed
CA8818364 rs374680442	150	S>C		No	ClinGen ESP ExAC gnomAD
rs1598786745 CA401368526	150	S>P		No	ClinGen Ensembl
rs1186278633 CA401368554	151	Y>*		No	ClinGen gnomAD
CA401368542 rs1490904419	151	Y>H		No	ClinGen gnomAD
CA401368546 rs1598786787	151	Y>S		No	ClinGen Ensembl
CA401368566 rs1475868890	152	P>R		No	ClinGen gnomAD
rs200793605 CA8818365	152	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294902161 rs774660252	153	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	156	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401368659 rs1598786849	158	T>P		No	ClinGen Ensembl
rs759099809 CA401368681	159	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8818369 rs759099809	159	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs532485121 CA8818371	160	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs532485121 CA8818370	160	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA8818372 rs757796994	161	A>T		No	ClinGen ExAC gnomAD
CA8818374 rs367684406	163	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818375 rs575009277	164	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	165	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8818378 rs138520983	165	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144577972 CA8818376	165	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM2803382 rs781211086 CA8818379	166	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA401368868 rs1237010800	168	G>E		No	ClinGen TOPMed
rs536655493 CA8818380	169	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1051291745 CA294902191	170	I>N		No	ClinGen TOPMed
CA401368948 rs1210915565	171	K>N		No	ClinGen TOPMed gnomAD
rs777558399 CA8818402	172	N>D		No	ClinGen ExAC gnomAD
CA401370131 rs1455350834	175	G>E		No	ClinGen TOPMed gnomAD
rs201919186 CA294904034	178	N>K		No	ClinGen Ensembl
rs1160258925 CA401370192	179	I>T		No	ClinGen gnomAD
rs551734728 CA294904045	181	R>K		No	ClinGen TOPMed gnomAD
CA8818405 rs115961261	182	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8818406 COSM242632 rs150742595	182	P>L	lung prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs567751738 CA8818409	185	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8818412 rs547334278	186	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547334278 CA8818411	186	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1208473402 CA401370278	188	Y>*		No	ClinGen TOPMed gnomAD
CA401370275 rs1356238627	188	Y>F		No	ClinGen TOPMed gnomAD
TCGA novel	188	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	189	H>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469119731 CA401370293	189	H>Q		No	ClinGen TOPMed gnomAD
CA401370299 rs1285623464	190	T>A		No	ClinGen gnomAD
COSM377519 CA401370341 rs1236540061	193	R>G	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8818415 rs751866378	193	R>S		No	ClinGen ExAC gnomAD
rs765881805 CA294904085	194	I>T		No	ClinGen TOPMed gnomAD
CA401370366 rs1364351556	195	A>T		No	ClinGen gnomAD
COSM227140 rs1598796288 CA401370405	197	T>I	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1050181418 CA294904097	198	R>K		No	ClinGen gnomAD
rs1432381002 CA401370683	198	R>S		No	ClinGen gnomAD
CA401370413 rs1050181418	198	R>T		No	ClinGen gnomAD
CA8818455 COSM166995 rs775782388	202	A>T	Variant assessed as Somatic; 6.908e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8818457 rs369128934 COSM3787466	203	V>I	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs868740135 CA294905158	205	G>V		No	ClinGen Ensembl
rs1345967871 CA401370777	207	V>F		No	ClinGen gnomAD
rs1345967871 CA401370773	207	V>I		No	ClinGen gnomAD
CA8818463 CA401370811 rs750562857	209	M>I		No	ClinGen ExAC TOPMed gnomAD
CA401370852 rs1485992368	214	V>M		No	ClinGen gnomAD
CA8818465 rs758367238	215	L>P		No	ClinGen ExAC gnomAD
CA8818469 rs780881251	219	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8818467 rs751304381	219	R>W		No	ClinGen ExAC gnomAD
rs151155883 CA8818471 COSM3356979	222	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs772508818 CA8818474	223	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8818475 rs775863228	224	P>S		No	ClinGen ExAC gnomAD
rs1011172266 CA294905208	225	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	225	V>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768951894 CA8818477	227	P>S		No	ClinGen ExAC TOPMed gnomAD
CA294905216 rs779131560	228	E>K		No	ClinGen gnomAD
rs1222106468 CA401371037	229	M>L		No	ClinGen gnomAD
CA401371040 rs1282122411	229	M>R		No	ClinGen gnomAD
rs1282122411 CA401371041	229	M>T		No	ClinGen gnomAD
rs577552272 CA401371053	230	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577552272 CA8818480	230	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs761901488 CA8818479	230	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1466923540 CA401371073	232	G>C		No	ClinGen gnomAD
rs763132300 CA401371098	234	R>L		No	ClinGen ExAC gnomAD
rs763132300 CA8818482	234	R>Q		No	ClinGen ExAC gnomAD
rs545801150 CA8818481	234	R>W		No	ClinGen ExAC TOPMed gnomAD
rs766417800 CA8818483	235	L>F		No	ClinGen ExAC TOPMed gnomAD
CA401371104 rs1598800497	235	L>P		No	ClinGen Ensembl
rs751507304 CA8818484	237	R>C		No	ClinGen ExAC gnomAD
CA8818485 rs144498025	237	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818488 rs755714023	241	W>C		No	ClinGen ExAC gnomAD
rs1326867575 CA401371170	241	W>R		No	ClinGen gnomAD
CA8818489 rs147253546	243	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA401371207 rs1224285364	244	T>A		No	ClinGen gnomAD
CA8818491 rs756825706	244	T>M		No	ClinGen ExAC TOPMed gnomAD
rs747512623 CA8818493	246	A>T		No	ClinGen ExAC gnomAD
CA8818522 rs760449076 COSM985573	247	R>C	Variant assessed as Somatic; 0.0 impact. skin endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs142373038 CA8818523	247	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142373038 CA8818524	247	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151264202 CA401371899	249	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8818526 rs151264202	249	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1484230921 CA401371904	249	A>V		No	ClinGen TOPMed
CA401371924 rs1598817351	251	V>A		No	ClinGen Ensembl
CA401371920 rs1277553526	251	V>M		No	ClinGen gnomAD
rs373620978 CA8818528	255	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs781539782 CA8818529	256	A>S		No	ClinGen ExAC gnomAD
CA8818530 rs753302636	259	A>T		No	ClinGen ExAC gnomAD
CA8818531 rs150028811	259	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8818534 rs771000032	260	Y>*		No	ClinGen ExAC gnomAD
rs749689997 CA8818533	260	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1598817450 CA401372036	261	S>T		No	ClinGen Ensembl
rs141463339 CA8818536	263	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs772251238 CA8818537	264	V>M		No	ClinGen ExAC gnomAD
CA401372088 rs1380365296	265	T>P		No	ClinGen TOPMed gnomAD
rs1326715583 CA401372119	267	Y>C		No	ClinGen gnomAD
CA8818539 rs760567831	268	Q>K		No	ClinGen ExAC gnomAD
rs367760816 CA294908874	271	I>T		No	ClinGen ESP
CA401372170 rs1300721784	271	I>V		No	ClinGen TOPMed gnomAD
rs768603359 CA8818540	272	L>P		No	ClinGen ExAC TOPMed gnomAD
CA401372192 rs1598817542	273	T>A		No	ClinGen Ensembl
CA8818543 rs145160723	274	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8818544 rs761676347	275	E>K		No	ClinGen ExAC gnomAD
rs1018158432 CA294908875	276	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs762351153 CA401372298	282	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8818548 rs766024195	282	P>L		No	ClinGen ExAC gnomAD
CA8818547 rs762351153	282	P>S		No	ClinGen ExAC TOPMed gnomAD
rs199760680 CA8818549	283	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8818551 rs778433615	284	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs551759356 CA8818550	284	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294908877 rs1016456801	285	I>V		No	ClinGen Ensembl
rs754187560 CA8818552	286	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8818553 rs754187560	286	P>R		No	ClinGen ExAC TOPMed gnomAD
rs778988177 CA294908879	290	V>A		No	ClinGen ExAC gnomAD
CA8818554 rs778988177	290	V>E		No	ClinGen ExAC gnomAD
CA401372391 rs1389107779	291	T>A		No	ClinGen gnomAD
rs746148650 CA8818555	292	T>R		No	ClinGen ExAC TOPMed gnomAD
CA8818556 rs74000655	293	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1323501571 CA401372412	293	A>T		No	ClinGen gnomAD
rs143498900 CA401372441 CA8818559	295	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs747886377 CA8818561	296	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1341792220 CA401372473	297	I>N		No	ClinGen Ensembl
CA8818563 rs61910709	298	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368330402 CA8818564	299	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1598817918 CA401372507	300	T>I		No	ClinGen Ensembl
CA8818566 rs773937490	301	E>G		No	ClinGen ExAC gnomAD
CA401372509 rs1195370265	301	E>K		No	ClinGen TOPMed gnomAD
CA8818567 rs759120372	302	M>V		No	ClinGen ExAC gnomAD
rs754423795 CA8818569	304	Q>R		No	ClinGen ExAC gnomAD
rs759703113 CA8818613	306	M>K		No	ClinGen ExAC gnomAD
CA401373139 rs1228843826	306	M>V		No	ClinGen gnomAD
CA401373163 rs1332333771	308	A>T		No	ClinGen gnomAD
CA401373178 CA8818616 rs756212450	309	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8818617 rs756212450	309	G>W		No	ClinGen ExAC TOPMed gnomAD
CA401373208 rs549132744	312	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549132744 CA8818619	312	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778809642 CA8818620	314	P>T		No	ClinGen ExAC TOPMed gnomAD
CA401373244 rs1187756278	315	L>P		No	ClinGen gnomAD
CA401373251 rs1412132248	316	M>T		No	ClinGen TOPMed
rs745672652 CA8818621	317	G>A		No	ClinGen ExAC TOPMed gnomAD
CA294908912 rs745672652	317	G>D		No	ClinGen ExAC TOPMed gnomAD
CA401373267 rs745672652	317	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8818623 rs771689113	318	L>H		No	ClinGen ExAC
CA401373295 rs1408315482	320	E>Q		No	ClinGen gnomAD
CA8818627 rs768103444	322	I>M		No	ClinGen ExAC TOPMed gnomAD
rs141741804 CA8818625	322	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA401373320 rs1172613201	322	I>V		No	ClinGen gnomAD
CA8818628 rs201569712	323	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818630 rs371994810	325	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs767773262 CA8818632	326	K>E		No	ClinGen ExAC gnomAD
CA8818633 rs147201172	326	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1228673239 CA401373371	327	A>T		No	ClinGen TOPMed
rs368920537	328	F>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs368920537 CA8818635	328	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA401373398 rs138804367	329	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818636 rs138804367	329	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818661 rs754532565	332	N>D		No	ClinGen ExAC gnomAD
CA401373878 rs1567961491	334	Y>*		No	ClinGen Ensembl
rs1175763289 CA401373872	334	Y>S		No	ClinGen gnomAD
CA8818662 rs61732344	335	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202012964 CA8818664	335	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8818663 rs202012964	335	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA401373892 rs1349009609	336	I>V		No	ClinGen gnomAD
CA294909879 rs113729558	337	D>E		No	ClinGen Ensembl
CA8818666 rs746400752	337	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8818667 rs373987508	337	D>V		No	ClinGen ESP ExAC gnomAD
rs1345056932 CA401373908	338	A>T		No	ClinGen TOPMed
CA294909881 rs913456302	340	Q>H		No	ClinGen TOPMed
rs147429148 CA8818668	343	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs367934688	345	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs747405879 CA8818669	345	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8818671 rs367934688	345	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA401373955 rs1471517228	345	I>T		No	ClinGen gnomAD
CA8818698 rs760271439	346	G>A		No	ClinGen ExAC gnomAD
rs140725186 CA8818672	346	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818700 rs377308776	351	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1431066596 CA401374410	351	L>V		No	ClinGen TOPMed gnomAD
CA8818701 rs143667170	352	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780404519 CA8818703	355	V>I		No	ClinGen ExAC TOPMed gnomAD
rs144744659 CA8818704	356	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA401374440 rs144744659	356	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818706 rs576883673	357	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA8818709 rs373604987	359	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1032941046 CA8818710	359	P>L		No	ClinGen TOPMed gnomAD
rs1032941046 CA8818711	359	P>Q		No	ClinGen TOPMed gnomAD
rs1032941046 CA8818712	359	P>R		No	ClinGen TOPMed gnomAD
CA8818708 rs373604987	359	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1470362281 CA401374497	366	R>Q		No	ClinGen TOPMed gnomAD
CA8818715 rs373030126	366	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818745 rs77106895	367	T>A		No	ClinGen ExAC TOPMed gnomAD
rs77106895 CA294911515	367	T>P		No	ClinGen ExAC TOPMed gnomAD
CA401374513 rs1275299331	367	T>R		No	ClinGen gnomAD
CA8818747 rs147759020	369	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1409063309 CA401374530	370	N>S		No	ClinGen gnomAD
CA8818749 rs539743945	371	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1288639460 CA401374545	372	Q>H		No	ClinGen TOPMed gnomAD
rs756400489 CA8818750	372	Q>R		No	ClinGen ExAC gnomAD
rs374707575 CA401374550	373	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs374707575 CA8818751	373	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA401374558 rs199912887 CA294911535	375	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs199912887 CA401374557	375	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs1460970510 CA401374568	376	C>W		No	ClinGen TOPMed
CA8818754 rs779006768	376	C>Y		No	ClinGen ExAC gnomAD
rs1254424903 CA401374574	377	T>I		No	ClinGen gnomAD
rs745943087 CA8818755 COSM1680129	378	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA294911544 rs940290673	378	P>S		No	ClinGen TOPMed
TCGA novel	379	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8818756 rs758522694	379	A>T		No	ClinGen ExAC gnomAD
CA294911556 rs570193518 COSM985575	379	A>V	Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed
CA8818758 rs746911139	381	G>D		No	ClinGen ExAC TOPMed gnomAD
rs746911139 CA294911566	381	G>V		No	ClinGen ExAC TOPMed gnomAD
rs768502056 CA8818759	382	L>P		No	ClinGen ExAC gnomAD
rs1304103622 CA401374598	383	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs537929586 CA401374606	384	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs537929586 CA8818762 COSM1265800	384	T>M	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1012203624 CA294911799	388	V>L		No	ClinGen gnomAD
rs1220144082 CA401374645	390	L>V		No	ClinGen gnomAD
rs751658402 CA8818800	391	S>C		No	ClinGen ExAC TOPMed gnomAD
CA401374653 rs751658402	391	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8818801 rs755075019	392	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1248727285 CA401374665	393	D>E		No	ClinGen gnomAD
CA8818804 rs756148308	394	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs142863782 CA8818803	394	Y>H		No	ClinGen ESP ExAC gnomAD
rs749106661 CA401374673	395	L>V		No	ClinGen ExAC gnomAD
CA8818807 rs770639202	398	L>M		No	ClinGen ExAC TOPMed gnomAD
rs146615233 CA294911808	398	L>P		No	ClinGen ESP TOPMed gnomAD
CA401374699 rs1410847377	399	F>L		No	ClinGen TOPMed gnomAD
rs745370131 CA8818810	400	Y>*		No	ClinGen ExAC gnomAD
rs113606482 CA294911811	401	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401374724 rs1322186922	403	P>L		No	ClinGen gnomAD
rs748555377 CA8818813	404	K>T		No	ClinGen ExAC gnomAD
rs972818181 CA294911816	405	S>C		No	ClinGen gnomAD
CA401374735 rs1288130481	405	S>P		No	ClinGen gnomAD
rs770300455 CA8818814	406	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8818815 rs773501651	406	A>V		No	ClinGen ExAC TOPMed gnomAD
CA401374753 rs1208106960	408	A>V		No	ClinGen TOPMed gnomAD
CA8818818 rs774490818	410	V>D		No	ClinGen ExAC TOPMed gnomAD
rs140124148 CA8818817	410	V>I	Variant assessed as Somatic; 9.309e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8818821 rs146864061	411	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1399654117 CA401374767	411	I>T		No	ClinGen TOPMed
rs143908551 CA8818819	411	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818822 rs756061144	413	M>V		No	ClinGen ExAC gnomAD
COSM1303465 CA8818824 rs753683168	415	V>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs140113501 CA8818825	417	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140113501 CA401374805	417	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs182802137 CA8818830 CA8818829	419	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773763400 CA8818832	420	D>G		No	ClinGen ExAC gnomAD
CA8818831 rs371059198 COSM1387048	420	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs771320466 CA8818835	421	T>A		No	ClinGen ExAC
CA401374827 rs1598839798	421	T>I		No	ClinGen Ensembl
rs1242778178 CA401374829	422	K>E		No	ClinGen gnomAD
rs774813599 CA8818836	426	T>M		No	ClinGen ExAC gnomAD
rs767796154 CA8818838	428	W>*		No	ClinGen ExAC gnomAD
rs370455417 CA8818839	429	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818840 rs576299920	429	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401374879 rs576299920	429	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294911852 rs576299920	429	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8818842 rs764115198	431	K>R		No	ClinGen ExAC TOPMed
CA8818841 rs764115198	431	K>T		No	ClinGen ExAC TOPMed
rs1413378286 CA401349955	432	R>K		No	ClinGen TOPMed
CA401349985 rs1313828348	434	D>G		No	ClinGen TOPMed
rs538790431 CA294856931	435	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401349992 rs1453852610	435	L>R		No	ClinGen TOPMed
rs538790431 CA8818877	435	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401349998 rs1207636237	436	L>P		No	ClinGen gnomAD
rs780393494 CA8818878	438	L>V		No	ClinGen ExAC gnomAD
rs149066274 CA8818881	439	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376299076 CA8818882	440	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818884 rs773247330	441	T>I		No	ClinGen ExAC gnomAD
rs111824287 CA8818883	441	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762620664 CA8818885	442	F>I		No	ClinGen ExAC TOPMed gnomAD
rs766154017 CA8818886	444	L>P		No	ClinGen ExAC gnomAD
rs1431533893 CA401350082	445	C>Y		No	ClinGen gnomAD
CA401350110 rs767163564	447	W>*		No	ClinGen ExAC TOPMed gnomAD
CA8818889 rs767163564	447	W>S		No	ClinGen ExAC TOPMed gnomAD
CA8818891 rs752202065	448	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8818892 rs779266918	450	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA401350164 rs750980417 CA401350163 COSM708744	450	Q>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA
rs369568037 CA8818895	451	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA401350186 rs1298336753	452	G>D		No	ClinGen TOPMed
rs111343399 CA8818896	452	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781620925 CA8818898	454	L>P		No	ClinGen ExAC gnomAD
rs755245365 CA8818897	454	L>V		No	ClinGen ExAC gnomAD
CA401350226 rs1487796154	456	G>R		No	ClinGen TOPMed gnomAD
CA401350237 rs1193371676	457	A>S		No	ClinGen gnomAD
CA401350243 rs1270082925	457	A>V		No	ClinGen gnomAD
rs1472446996 CA401350253	458	L>P		No	ClinGen gnomAD
rs573226135 CA8818902	459	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573226135 CA401350263	459	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8818901 rs773193498	459	V>L		No	ClinGen ExAC gnomAD
CA401350266 rs1264436124	460	S>T		No	ClinGen TOPMed gnomAD
CA294857065 rs373010460	461	L>Q		No	ClinGen ESP TOPMed gnomAD
CA401350286 rs1164165394	462	L>I		No	ClinGen gnomAD
CA401350305 rs1194835167	463	M>T		No	ClinGen gnomAD
rs1456340610 CA401350299	463	M>V		No	ClinGen gnomAD
rs1345943236 CA401350329	466	H>Q		No	ClinGen gnomAD
CA401350326 rs1169770804	466	H>R		No	ClinGen TOPMed
CA401350332 rs1408955983	467	S>P		No	ClinGen gnomAD
rs1286119973 CA401350341	468	A>E		No	ClinGen gnomAD
rs189845840 CA8818904	469	A>T		No	ClinGen 1000Genomes ExAC
rs1223933843 CA401350348	470	R>G		No	ClinGen gnomAD
CA401350357 rs1288546760	471	P>S		No	ClinGen gnomAD
rs1193840697 CA401350371	473	T>P		No	ClinGen TOPMed
rs767146818 CA294857080	474	K>E		No	ClinGen ExAC TOPMed gnomAD
CA401350378 CA401350379 rs1482962190	474	K>N		No	ClinGen TOPMed gnomAD
CA8818906 rs767146818	474	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA8818907 rs775174696	474	K>R		No	ClinGen ExAC gnomAD
rs1031475482 CA294857379	475	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	477	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8818928 rs776200009	479	P>L		No	ClinGen ExAC gnomAD
CA401350420 rs1321254379	480	V>I		No	ClinGen TOPMed
rs1321254379 CA401350421	480	V>L		No	ClinGen TOPMed
TCGA novel	481	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369853134 CA8818931	484	Q>*		No	ClinGen ESP ExAC gnomAD
CA8818932 rs200526137	485	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753012932 CA8818934	486	A>T		No	ClinGen ExAC gnomAD
CA8818935 rs566876893	487	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754003456 CA8818937	488	G>S		No	ClinGen ExAC gnomAD
rs757379307 CA8818938	492	P>A		No	ClinGen ExAC gnomAD
CA401350490 rs757379307	492	P>T		No	ClinGen ExAC gnomAD
rs373579294 CA8818941	494	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs745767261 CA401350504	494	M>R		No	ClinGen ExAC TOPMed gnomAD
rs745767261 CA8818940	494	M>T		No	ClinGen ExAC TOPMed gnomAD
CA8818939 rs778791813	494	M>V		No	ClinGen ExAC gnomAD
rs1248115185 CA401350512	495	E>D		No	ClinGen TOPMed
CA8818942 rs779841705	495	E>K		No	ClinGen ExAC TOPMed gnomAD
CA401350516 rs1212456447	496	A>P		No	ClinGen TOPMed
CA8818944 rs534164590	498	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM985576 rs374724739 CA8818943	498	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA401350569 rs569489286	500	E>D		No	ClinGen TOPMed gnomAD
CA401350588 rs776192949	502	L>V		No	ClinGen ExAC gnomAD
CA8818949 rs772867549	504	R>P		No	ClinGen ExAC TOPMed gnomAD
rs772867549 CA8818948	504	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs147011619 CA8818946	504	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767917670 CA8818950	505	A>T		No	ClinGen ExAC gnomAD
CA8818951 rs753105335	505	A>V		No	ClinGen ExAC gnomAD
CA401350784 rs1339985547	510	P>A		No	ClinGen gnomAD
rs754225039 CA8818972	510	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8818974 rs765450568	511	P>S		No	ClinGen ExAC gnomAD
CA8818975 rs376649818	512	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8818976 rs758456476	512	R>H		No	ClinGen ExAC TOPMed gnomAD
CA401350848 rs1567969033	513	C>S		No	ClinGen Ensembl
rs1197228846 CA401350843	513	C>S		No	ClinGen gnomAD
rs751411232 CA8818978	515	V>A		No	ClinGen ExAC gnomAD
rs1304816084 CA401350875	515	V>F		No	ClinGen gnomAD
rs754963584 CA8818979	516	L>P		No	ClinGen ExAC gnomAD
CA8818980 rs780788573	518	C>R		No	ClinGen ExAC TOPMed gnomAD
rs747957103 CA8818981	518	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA8818982 rs755827764	519	T>P		No	ClinGen ExAC gnomAD
rs777631032 CA8818983	520	H>N		No	ClinGen ExAC TOPMed gnomAD
rs772403469 CA401351546	520	H>P		No	ClinGen gnomAD
rs772403469 CA294858151	520	H>R		No	ClinGen gnomAD
rs777631032 CA401351542	520	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA294858152 rs148053248	522	C>Y		No	ClinGen ESP TOPMed gnomAD
CA401351610 rs770390858	524	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8818984 rs376096747	524	I>V		No	ClinGen ESP ExAC gnomAD
rs773944762 CA8818986	525	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8818987 rs747427058	526	Y>H		No	ClinGen ExAC gnomAD
CA401351649 rs1305602865	527	T>I		No	ClinGen gnomAD
CA401351676 rs1567969163	530	L>P		No	ClinGen Ensembl
CA401351692 rs1308803138	532	L>F		No	ClinGen gnomAD
rs377168575 CA8818990	533	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8818991 rs377168575	533	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766317219 CA8818994	534	E>G		No	ClinGen ExAC TOPMed gnomAD
CA8818993 rs150834163	534	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401351709 rs150834163	534	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401351715 rs766317219	534	E>V		No	ClinGen ExAC TOPMed gnomAD
CA401351726 rs1220438439	535	L>F		No	ClinGen TOPMed
CA8818995 rs751670813	538	D>G		No	ClinGen ExAC gnomAD
rs761082284 CA8818998	544	V>F		No	ClinGen ExAC TOPMed gnomAD
rs761082284 CA8818999	544	V>I		No	ClinGen ExAC TOPMed gnomAD
CA294858191 rs139242541	545	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs139242541 CA8819001 COSM1387050	545	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA401351928 rs1288279274	546	L>Q		No	ClinGen gnomAD
rs1359777010 CA401351947	547	A>V		No	ClinGen gnomAD
CA401351971 rs1383785746	549	V>M		No	ClinGen gnomAD
CA401351990 rs1296046121	550	G>S		No	ClinGen gnomAD
rs1344585441 CA401351998	550	G>V		No	ClinGen gnomAD
rs373957119 CA8819002	552	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA294858201 rs373957119	552	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs200590347 CA294859989	553	V>F		No	ClinGen 1000Genomes
rs774686697 CA401352959	554	P>A		No	ClinGen ExAC TOPMed gnomAD
rs774686697 CA8819032	554	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM1735394 CA401352977 rs772243435	555	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8819034 rs772243435	555	V>L		No	ClinGen ExAC gnomAD
CA294860016 rs894937653	556	L>F		No	ClinGen TOPMed
rs80293861 CA8819035	557	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760632323 CA8819036	557	R>H		No	ClinGen ExAC TOPMed gnomAD
CA294860027 rs753573160	559	L>M		No	ClinGen ExAC gnomAD
rs140695037 CA401353050	560	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs561034564 CA294860060	562	A>P		No	ClinGen ExAC TOPMed gnomAD
rs561034564 CA8819042	562	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8819044 rs201189320	564	L>P		No	ClinGen ExAC gnomAD
rs140131205 CA401353158 CA8819045	566	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778398417 CA8819046	566	G>V		No	ClinGen ExAC gnomAD
rs749596778 CA8819047	568	Q>*		No	ClinGen ExAC gnomAD
CA8819049 rs76203432	568	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8819048 rs771370243	568	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1242676847 CA401353233	569	Y>D		No	ClinGen gnomAD
rs1026344815 CA294860112	572	T>S		No	ClinGen Ensembl
rs775644964 CA8819052	574	E>G		No	ClinGen ExAC TOPMed gnomAD
CA401353348 rs1399928968	576	A>E		No	ClinGen TOPMed gnomAD
CA401353351 rs1399928968	576	A>V		No	ClinGen TOPMed gnomAD
CA8819069 rs189596202	577	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1322690786 CA401353564	578	K>R		No	ClinGen TOPMed
rs779282402 CA8819070	579	H>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	579	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338025204 CA401353600	580	L>M		No	ClinGen gnomAD
rs1567972449 CA401353615	581	R>S		No	ClinGen Ensembl
rs17853480 CA294861307	583	E>K		No	ClinGen TOPMed gnomAD
rs17853480 CA401353643	583	E>Q		No	ClinGen TOPMed gnomAD
CA294861318 rs899133760	584	P>S		No	ClinGen TOPMed
rs1044086881 CA294861332	585	G>V		No	ClinGen Ensembl
CA401353727 rs1272302386	587	Q>*		No	ClinGen gnomAD
rs1223163316 CA401353757	588	P>L		No	ClinGen TOPMed gnomAD
CA8819072 rs758689885	588	P>S		No	ClinGen ExAC gnomAD
rs1447581072 CA401353771	589	Y>C		No	ClinGen gnomAD
CA401353915 rs1204383187	595	S>Y		No	ClinGen gnomAD
rs200956038 CA8819074	599	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200956038 CA8819073	599	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8819075 rs768740645	600	K>M		No	ClinGen ExAC gnomAD
CA294861377 rs759370536	600	K>N		No	ClinGen gnomAD
CA401354081 rs1198302293	603	L>P		No	ClinGen gnomAD
rs1426751958 CA401354102	604	L>P		No	ClinGen gnomAD
rs1172659195 CA401354141	606	A>T		No	ClinGen gnomAD
rs1383541214 CA401354163	607	A>Q		No	ClinGen gnomAD

No associated diseases with Q86WA9

3 regional properties for Q86WA9

Type	Name	Position	InterPro Accession
domain	Haemagglutinin outer capsid protein VP4, concanavalin-like domain	65 - 224	IPR000416
domain	Rotavirus VP4 helical domain	486 - 776	IPR035329
domain	Rotavirus VP4, membrane interaction domain	251 - 474	IPR035330

Functions

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

9 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
integral component of plasma membrane	The component of the plasma 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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
anion transmembrane transporter activity	Enables the transfer of a negatively charged ion from one side of a membrane to the other.
secondary active sulfate transmembrane transporter activity	Enables the secondary active transfer of sulfate from one side of a membrane to the other. Secondary active transport is the transfer of a solute across a membrane, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy. Secondary active transporters include symporters and antiporters.
sulfate transmembrane transporter activity	Enables the transfer of sulfate ions, SO4(2-), from one side of a membrane to the other.

2 GO annotations of biological process

Name	Definition
ion transport	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
sulfate transport	The directed movement of sulfate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6QNW6	SLC26A8	Testis anion transporter 1	Bos taurus (Bovine)	PR
P50443	SLC26A2	Sulfate transporter	Homo sapiens (Human)	PR
Q96RN1	SLC26A8	Testis anion transporter 1	Homo sapiens (Human)	PR
P58743	SLC26A5	Prestin	Homo sapiens (Human)	PR
Q8TE54	SLC26A7	Anion exchange transporter	Homo sapiens (Human)	PR
Q9R155	Slc26a4	Pendrin	Mus musculus (Mouse)	PR
Q9WVC8	Slc26a3	Chloride anion exchanger	Mus musculus (Mouse)	PR
Q99NH7	Slc26a5	Prestin	Mus musculus (Mouse)	PR
Q8R0C3	Slc26a8	Testis anion transporter 1	Mus musculus (Mouse)	PR
Q924C9	Slc26a3	Chloride anion exchanger	Rattus norvegicus (Rat)	PR
Q9EPH0	Slc26a5	Prestin	Rattus norvegicus (Rat)	PR
Q02920		Early nodulin-70	Glycine max (Soybean) (Glycine hispida)	PR
Q9FY46	SULTR4;1	Sulfate transporter 4.1, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SV13	SULTR3;1	Sulfate transporter 3.1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8GYH8	SULTR4;2	Probable sulfate transporter 4.2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MPSSVTALGQ	ARSSGPGMAP	SACCCSPAAL	QRRLPILAWL	PSYSLQWLKM	DFVAGLSVGL
70	80	90	100	110	120
TAIPQALAYA	EVAGLPPQYG	LYSAFMGCFV	YFFLGTSRDV	TLGPTAIMSL	LVSFYTFHEP
130	140	150	160	170	180
AYAVLLAFLS	GCIQLAMGVL	RLGFLLDFIS	YPVIKGFTSA	AAVTIGFGQI	KNLLGLQNIP
190	200	210	220	230	240
RPFFLQVYHT	FLRIAETRVG	DAVLGLVCML	LLLVLKLMRD	HVPPVHPEMP	PGVRLSRGLV
250	260	270	280	290	300
WAATTARNAL	VVSFAALVAY	SFEVTGYQPF	ILTGETAEGL	PPVRIPPFSV	TTANGTISFT
310	320	330	340	350	360
EMVQDMGAGL	AVVPLMGLLE	SIAVAKAFAS	QNNYRIDANQ	ELLAIGLTNM	LGSLVSSYPV
370	380	390	400	410	420
TGSFGRTAVN	AQSGVCTPAG	GLVTGVLVLL	SLDYLTSLFY	YIPKSALAAV	IIMAVAPLFD
430	440	450	460	470	480
TKIFRTLWRV	KRLDLLPLCV	TFLLCFWEVQ	YGILAGALVS	LLMLLHSAAR	PETKVSEGPV
490	500	510	520	530	540
LVLQPASGLS	FPAMEALREE	ILSRALEVSP	PRCLVLECTH	VCSIDYTVVL	GLGELLQDFQ
550	560	570	580	590	600
KQGVALAFVG	LQVPVLRVLL	SADLKGFQYF	STLEEAEKHL	RQEPGTQPYN	IREDSILDQK

VALLKA