AiPD: Autoinhibited Protein Database

Q2M3M2

Gene name	SLC5A9 (SGLT4)
Protein name	Sodium/glucose cotransporter 4
Names	Na(+)/glucose cotransporter 4, hSGLT4, Solute carrier family 5 member 9
Species	Homo sapiens (Human)
KEGG Pathway	hsa:200010
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

556-639 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

556-639 (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 Q2M3M2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q2M3M2-F1	Predicted				AlphaFoldDB

590 variants for Q2M3M2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs763604741 CA843368	3	K>E		No	ClinGen ExAC gnomAD
CA340285785 rs1453003844	4	E>V		No	ClinGen gnomAD
CA340285814 rs1379958259	9	G>R		No	ClinGen gnomAD
rs866488427 CA22102801	10	P>T		No	ClinGen Ensembl
CA340285829 rs1312490659	11	G>A		No	ClinGen TOPMed
rs199930500 CA843371	14	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1264812211 CA340285850	15	D>H		No	ClinGen gnomAD
rs1264812211 CA340285849	15	D>N		No	ClinGen gnomAD
CA843373 rs756014240	16	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753886062 CA843376	17	V>A		No	ClinGen ExAC TOPMed gnomAD
CA843375 rs753886062	17	V>D		No	ClinGen ExAC TOPMed gnomAD
rs374885808 CA22102807	17	V>F		No	ClinGen ExAC TOPMed gnomAD
rs374885808 CA843374	17	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1179413711 CA340285873	19	T>I		No	ClinGen gnomAD
CA843377 rs779009287	22	A>S		No	ClinGen ExAC gnomAD
CA340285903 rs1253374052	24	H>Y		No	ClinGen gnomAD
CA340285914 rs1469944152	25	I>R		No	ClinGen gnomAD
CA340285910 rs1408831919	25	I>V		No	ClinGen TOPMed gnomAD
CA22102816 rs1018495724	26	A>V		No	ClinGen TOPMed gnomAD
rs1479028364 CA340285939	29	S>F		No	ClinGen TOPMed
rs976891385 CA22102820	32	G>C		No	ClinGen TOPMed
CA340285966 rs1279676741	34	H>P		No	ClinGen gnomAD
CA843382 rs140121983	35	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA843383 rs771338947	36	Y>C		No	ClinGen ExAC gnomAD
rs1204506884 CA340285983	37	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1262781512 CA340285996	38	I>T		No	ClinGen gnomAD
CA843385 rs760024732	39	S>R		No	ClinGen ExAC TOPMed gnomAD
COSM910433 CA843387 rs773867100	40	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA340286017 rs1180664882	42	V>L		No	ClinGen gnomAD
rs761278392 CA843388	45	F>Y		No	ClinGen ExAC gnomAD
rs767249431 CA843389	47	F>L		No	ClinGen ExAC gnomAD
rs201589009 CA22102834	48	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201589009 CA843391	48	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA22102837 rs753970349	49	I>L		No	ClinGen ExAC gnomAD
rs753970349 COSM1658858 CA843392	49	I>V	salivary_gland [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs568504882 CA843412	55	S>L	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA843415 rs752632309	56	S>A		No	ClinGen ExAC gnomAD
COSM910435 rs370045343 CA843417	58	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA843418 rs373666109	58	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1569805632 CA340286138	59	A>E		No	ClinGen Ensembl
CA340286135 rs1569805619	59	A>T		No	ClinGen Ensembl
rs1364933167 CA340286144	60	S>N		No	ClinGen TOPMed
CA340286141 rs1569805659	60	S>R		No	ClinGen Ensembl
COSM79052 rs199760707 CA843420	61	R>*	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs199760707 CA340286149	61	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	61	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs942080775 CA22103216	63	T>N		No	ClinGen TOPMed gnomAD
rs756503001 CA843422	64	I>T		No	ClinGen ExAC TOPMed gnomAD
CA340286174 rs1178233047	65	G>A		No	ClinGen TOPMed
rs746788236 CA22103222	66	G>R		No	ClinGen ExAC TOPMed gnomAD
rs746788236 CA843424	66	G>S		No	ClinGen ExAC TOPMed gnomAD
CA843425 rs769316187	70	A>D		No	ClinGen ExAC gnomAD
rs939126083 CA22103228	71	G>R		No	ClinGen gnomAD
CA843428 rs376518317	72	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA340286219 rs1569805921	73	S>A		No	ClinGen Ensembl
CA843429 rs776209170	74	M>T		No	ClinGen ExAC TOPMed gnomAD
rs145760709 CA843446	79	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	81	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA843447 rs745443210	81	A>V		No	ClinGen ExAC gnomAD
CA843449 rs769519692	85	S>F		No	ClinGen ExAC TOPMed gnomAD
CA340286739 rs933954841 CA22103777	86	S>R		No	ClinGen TOPMed gnomAD
TCGA novel	88	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA843450 rs775102126	88	V>M		No	ClinGen ExAC gnomAD
rs768554187 CA843452	89	G>D		No	ClinGen ExAC gnomAD
CA22103778 rs142241430 COSM1226504	90	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA843453 rs74440350	92	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1465792969 CA340286774	92	L>S		No	ClinGen gnomAD
rs761869637 CA843454	93	F>L		No	ClinGen ExAC TOPMed gnomAD
CA843456 rs750523451	94	I>F		No	ClinGen ExAC TOPMed gnomAD
CA340286784 rs750523451	94	I>L		No	ClinGen ExAC TOPMed gnomAD
rs750523451 CA22103779	94	I>V		No	ClinGen ExAC TOPMed gnomAD
rs754222482 CA843459	95	G>D		No	ClinGen ExAC
CA843458 rs182981612	95	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA340286807 rs1284372045	98	G>E		No	ClinGen gnomAD
CA22103781 rs1022152684	99	T>A		No	ClinGen Ensembl
rs1311244813 CA340286813	99	T>I		No	ClinGen gnomAD
rs753194046 CA843462	102	A>P		No	ClinGen ExAC gnomAD
rs1045974161 CA22103782	103	G>E		No	ClinGen Ensembl
rs61746559 CA843464	103	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1490832528 CA340286841	104	G>V		No	ClinGen gnomAD
rs749926751 CA843466	105	L>S		No	ClinGen ExAC
rs1266487954 CA340286848	106	A>P		No	ClinGen gnomAD
CA843471 rs200805074	107	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1430508714 CA340286868	109	G>D		No	ClinGen TOPMed gnomAD
rs150361131 CA340286878	110	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201648239 CA22103783	111	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA340286881 rs1569823018	111	E>G		No	ClinGen Ensembl
rs201648239 CA843473	111	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs774147025 CA843474	112	W>*		No	ClinGen ExAC gnomAD
rs761673642	113	N>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA843524 rs763214405	114	A>E		No	ClinGen ExAC gnomAD
CA340287129 rs1457991651	121	L>P		No	ClinGen gnomAD
rs202206960 CA843529	123	W>*		No	ClinGen ExAC gnomAD
CA340287149 rs1569825031	124	V>G		No	ClinGen Ensembl
CA843530 rs141515954 VAR_068963	124	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA340287153 rs1422393037	125	F>C		No	ClinGen gnomAD
rs1557469892 CA340287151	125	F>L		No	ClinGen Ensembl
TCGA novel	126	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM395170 CA843532 rs368240645	126	V>I	lung endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs139280979 CA843533	127	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1553129213 CA340287165	127	P>L		No	ClinGen Ensembl
CA843536 rs528278569	128	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA843535 rs528278569	128	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA843534 rs777583677	128	V>M		No	ClinGen ExAC gnomAD
rs1304672424 CA340287175	129	Y>C		No	ClinGen gnomAD
CA340287179 rs1331481395	130	I>L		No	ClinGen gnomAD
CA843538 rs745940389 COSM910438	131	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	132	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365818649 CA340287196	132	A>V		No	ClinGen gnomAD
TCGA novel	133	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286686450 CA340287211	135	V>F		No	ClinGen TOPMed
rs1230663417 CA340287212	135	V>G		No	ClinGen gnomAD
rs770058511 CA843539	136	T>K		No	ClinGen ExAC gnomAD
rs147235542 CA843540	138	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	139	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375167432 CA22103813	142	K>N		No	ClinGen ESP TOPMed gnomAD
rs1244598070 CA340287288	143	K>T		No	ClinGen gnomAD
CA843542 rs369855692	144	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA843543 rs369420774	144	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200014962 CA843545	145	F>S		No	ClinGen ExAC TOPMed gnomAD
CA843546 rs771048498	147	G>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	149	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340287423 rs1173536756	151	Q>R		No	ClinGen TOPMed
CA843549 rs746124330	152	V>A		No	ClinGen ExAC gnomAD
rs212989 VAR_043166 CA843548	152	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA22103814 rs111642829	154	M>I		No	ClinGen TOPMed gnomAD
CA340287505 rs1286489866	155	S>C		No	ClinGen gnomAD
CA340287507 rs1286489866	155	S>F		No	ClinGen gnomAD
CA340287539 rs1428079080	158	S>P		No	ClinGen TOPMed
rs762616164 CA843552	161	L>V		No	ClinGen ExAC TOPMed gnomAD
CA340287612 rs199536445	162	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs763702226 CA843553	162	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs200484428 CA843555	163	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1368958065 CA340287640	164	F>I		No	ClinGen gnomAD
rs377329714 CA843557 CA843558	166	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA
rs1386883707 CA340287662	167	I>T		No	ClinGen TOPMed gnomAD
CA843560 rs780145358	168	S>L		No	ClinGen ExAC TOPMed gnomAD
rs756129706 CA843559	168	S>P		No	ClinGen ExAC gnomAD
rs778062141 CA843584	174	G>R		No	ClinGen ExAC gnomAD
CA843585 rs747422046	174	G>V		No	ClinGen ExAC
rs1253858333 CA340288229	175	A>V		No	ClinGen TOPMed gnomAD
rs771435785 CA843586	176	L>F		No	ClinGen ExAC gnomAD
rs1465241810 CA340288232	176	L>P		No	ClinGen TOPMed
TCGA novel	177	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200192358 CA22103928	178	I>V		No	ClinGen TOPMed
rs1331774673 CA340288262	180	M>T		No	ClinGen gnomAD
CA843589 rs57262835	182	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA843591 rs767995111 CA843590	185	N>K		No	ClinGen ExAC TOPMed gnomAD
CA22103929 rs201106657	190	T>I		No	ClinGen Ensembl
CA843593 rs767304904	191	G>R		No	ClinGen ExAC gnomAD
rs1186739323 CA340288340	192	I>N		No	ClinGen TOPMed
CA340288353 rs1372946914	195	V>L		No	ClinGen gnomAD
CA22103930 rs1044519316	196	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA843596 rs766324242	197	T>I		No	ClinGen ExAC gnomAD
rs760430402 CA843595	197	T>S		No	ClinGen ExAC gnomAD
rs753658145 CA843598	198	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200783955 CA843600	199	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	201	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA843602 rs758597301	201	T>S		No	ClinGen ExAC TOPMed
rs1433431562 CA522637358	204	G>*		No	ClinGen gnomAD
CA843604 rs747368599	204	G>S		No	ClinGen ExAC gnomAD
rs751675519 CA843621	205	G>D		No	ClinGen ExAC gnomAD
rs1389261401 CA340288428	206	L>F		No	ClinGen TOPMed
CA340288432 rs1557472186	207	M>L		No	ClinGen Ensembl
VAR_043167 rs12047252 CA843622	207	M>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	208	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1433672755 CA340288448	209	V>E		No	ClinGen TOPMed gnomAD
rs571691782 CA22104000	209	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA340288470 rs1201219630	212	T>R		No	ClinGen TOPMed gnomAD
rs780749249 CA843626	213	D>G		No	ClinGen ExAC gnomAD
CA340288472 rs1311666689	213	D>N		No	ClinGen gnomAD
rs747660405 CA843627	214	A>T		No	ClinGen ExAC gnomAD
CA340288491 rs1465543251	216	Q>*		No	ClinGen gnomAD
rs1208178404 CA340288492	216	Q>L		No	ClinGen gnomAD
CA843629 rs147266128	217	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA340288518 rs1182954533	220	M>T		No	ClinGen gnomAD
CA843630 rs746598985	220	M>V		No	ClinGen ExAC TOPMed gnomAD
CA340288533 rs1187710020	222	G>A		No	ClinGen gnomAD
rs1474419651 CA340288531	222	G>R		No	ClinGen gnomAD
CA340288535 rs1421056338	223	G>R		No	ClinGen TOPMed
CA340288543 rs61730945	224	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776268093 CA843633	224	A>S		No	ClinGen ExAC gnomAD
CA843634 rs61730945	224	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1448621140 CA340288555	226	V>A		No	ClinGen gnomAD
CA843637 rs762892060	228	M>I		No	ClinGen ExAC gnomAD
rs367794847 CA843636	228	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA340288563 rs1353534396	228	M>V		No	ClinGen gnomAD
rs764095817 CA843638	231	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774273531 CA843658	233	Q>R		No	ClinGen ExAC gnomAD
rs761997128 CA843659	234	D>N		No	ClinGen ExAC gnomAD
CA843661 rs773544150	235	V>M		No	ClinGen ExAC TOPMed gnomAD
CA340288624 rs1392739156	236	G>S		No	ClinGen gnomAD
rs1451181629 CA340288649	239	P>S		No	ClinGen gnomAD
CA340288647 rs1451181629	239	P>T		No	ClinGen gnomAD
rs1407973165 CA340288672	243	Q>K		No	ClinGen gnomAD
CA843665 rs755516006	244	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA843664 rs149962239	244	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756848541 CA843669	246	R>S		No	ClinGen ExAC
CA843668 rs751027469	246	R>W		No	ClinGen ExAC gnomAD
rs780580027 CA843670	247	Q>*		No	ClinGen ExAC gnomAD
CA22104036 rs905566447	248	A>V		No	ClinGen TOPMed gnomAD
CA22104037 rs202036262	250	P>R		No	ClinGen 1000Genomes
rs1340545326 CA340288725	251	N>S		No	ClinGen TOPMed
CA340288728 rs1291658147	252	V>I		No	ClinGen TOPMed
rs1234130501 CA340288735	253	T>A		No	ClinGen gnomAD
COSM1343221 rs1298967389 CA340288756	256	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA843675 COSM1343222 rs568233994	257	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs369664164 CA22104038	257	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs1292539948 CA340288767	258	T>N		No	ClinGen TOPMed gnomAD
rs1207832629 CA340288780	260	H>N		No	ClinGen TOPMed gnomAD
CA22104039 rs199566627	261	L>F		No	ClinGen TOPMed
rs900663983 CA22104040	261	L>R		No	ClinGen TOPMed
CA843677 rs748165111	263	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs140292897 CA843676	263	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA843678 rs772136687	264	P>T		No	ClinGen ExAC gnomAD
CA340288809 rs766752160	265	D>E		No	ClinGen ExAC TOPMed gnomAD
CA843680 rs760928641	265	D>N		No	ClinGen ExAC TOPMed gnomAD
CA843683 rs777101704	266	A>G		No	ClinGen ExAC gnomAD
rs1569835093 CA340288811	266	A>T		No	ClinGen Ensembl
rs777101704 CA843682	266	A>V		No	ClinGen ExAC gnomAD
rs902192147 CA22104041	267	F>Y		No	ClinGen TOPMed
rs1183595641 CA340288825	268	H>R		No	ClinGen TOPMed
rs999167805 CA22104042	268	H>Y		No	ClinGen Ensembl
VAR_043168 rs212991 CA843684	269	I>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753189184 CA843685	270	L>F		No	ClinGen ExAC TOPMed gnomAD
CA843686 rs138342839	271	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1406132527 CA340288841	271	R>W		No	ClinGen TOPMed gnomAD
CA340288845 rs1292528631	272	D>H		No	ClinGen TOPMed
rs767014884 CA843687	274	V>M		No	ClinGen ExAC gnomAD
rs749958781 CA843688	275	S>N		No	ClinGen ExAC gnomAD
rs61997212 CA340288868	275	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1165793 CA843690 rs779722385 CA340288870	276	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA843691 rs557745584	277	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	278	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357533308 CA340288885	278	I>N		No	ClinGen gnomAD
TCGA novel	279	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232249805 CA340288894	279	P>L		No	ClinGen gnomAD
rs61997217 CA843692	280	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA843693 rs61997217	280	W>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA843694 rs748075804	281	P>L		No	ClinGen ExAC TOPMed gnomAD
CA22104043 rs912497305	282	G>S		No	ClinGen TOPMed gnomAD
rs1260452617 CA340288909	282	G>V		No	ClinGen gnomAD
rs1052870117 CA22104044	286	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA340288940 rs1237791778	287	L>F		No	ClinGen gnomAD
rs777976388 CA843696	287	L>R		No	ClinGen ExAC TOPMed gnomAD
CA340288947 rs1162580361	288	T>I		No	ClinGen gnomAD
CA340288949 rs1459070578	289	V>M		No	ClinGen gnomAD
CA843698 rs771272837	290	L>V		No	ClinGen ExAC gnomAD
CA340288964 rs1380983570	291	A>V		No	ClinGen gnomAD
rs1336741724 CA340289000	296	C>Y		No	ClinGen gnomAD
CA340289014 rs1569835792	298	D>A		No	ClinGen Ensembl
rs759851385 CA843700	299	Q>H		No	ClinGen ExAC gnomAD
CA417894843 rs1483272328	300	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs185252766 CA843726	303	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA843728 rs143335119	304	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs764835227 CA843727	304	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs557616758 CA843730	306	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs113156070 CA843732 COSM1226503	307	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs751475157 CA843731	307	S>P		No	ClinGen ExAC gnomAD
rs376782403 CA22104059	308	A>S		No	ClinGen ESP TOPMed
CA843735 rs530346791	308	A>V		No	ClinGen ExAC gnomAD
CA843736 rs780208311	309	K>*		No	ClinGen ExAC TOPMed gnomAD
CA843737 rs749654304	309	K>N		No	ClinGen ExAC gnomAD
TCGA novel	310	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340289096 rs1323566213	310	S>R		No	ClinGen gnomAD
CA843738 rs143051695	310	S>R		No	ClinGen ESP TOPMed gnomAD
rs768953057 CA843742	313	H>N		No	ClinGen ExAC gnomAD
TCGA novel	313	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs553288423 CA843743	314	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs553288423 CA843744	314	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1557473952 CA340289123	315	K>T		No	ClinGen Ensembl
rs1368357364 CA340289138	317	G>A		No	ClinGen TOPMed gnomAD
CA843747 rs752480246	319	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA843748 rs759033605	320	L>V		No	ClinGen ExAC gnomAD
CA843749 rs142245431	321	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	322	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1253653086 CA340289160	322	G>S		No	ClinGen TOPMed gnomAD
CA843750 rs774946828	323	Y>H		No	ClinGen ExAC gnomAD
CA843751 rs762669255	324	L>M		No	ClinGen ExAC gnomAD
TCGA novel	325	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	326	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340289478 rs1371701672	329	M>I		No	ClinGen gnomAD
CA843752 rs142642468	329	M>K		No	ClinGen ESP ExAC gnomAD
CA340289472 rs1429691878	329	M>L		No	ClinGen gnomAD
CA22104060 rs1037027712	333	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA843757 rs756208342	334	M>I		No	ClinGen ExAC gnomAD
rs750513632 CA843756	334	M>V		No	ClinGen ExAC
CA340289524 rs1365821362	336	G>D		No	ClinGen gnomAD
CA843761 CA843760 rs755228113	337	M>I		No	ClinGen ExAC gnomAD
rs144494090 CA843759	337	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144494090 CA843758	337	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA843763 rs772560201	340	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA843762 rs374218994	340	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs773646113 CA843764	344	P>T		No	ClinGen ExAC TOPMed gnomAD
CA843786 rs770282251	345	D>E		No	ClinGen ExAC TOPMed gnomAD
rs567259297 CA843788	346	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA843792 rs376023192	350	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA843793 rs148677917	352	P>S		No	ClinGen ESP ExAC TOPMed
CA340289632 rs148677917	352	P>T		No	ClinGen ESP ExAC TOPMed
CA843795 rs759668252	354	V>F		No	ClinGen ExAC TOPMed gnomAD
CA843796 rs765311609	355	C>Y		No	ClinGen ExAC gnomAD
rs199879523 CA22104185	358	I>T		No	ClinGen Ensembl
rs1281465269 CA340289691	360	G>E		No	ClinGen gnomAD
rs752848191 CA843798	361	A>D		No	ClinGen ExAC TOPMed gnomAD
CA843799 rs758650324	362	R>*		No	ClinGen ExAC TOPMed gnomAD
rs144112204 CA22104187	362	R>P		No	ClinGen ESP TOPMed gnomAD
CA22104186 rs144112204	362	R>Q		No	ClinGen ESP TOPMed gnomAD
CA843800 rs777949734	364	G>*		No	ClinGen ExAC TOPMed gnomAD
CA340289705 rs777949734	364	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1279999923 CA340289738	368	I>M		No	ClinGen gnomAD
rs925883686 CA340289748	370	Y>C		No	ClinGen TOPMed gnomAD
rs925883686 CA22104189	370	Y>S		No	ClinGen TOPMed gnomAD
CA843801 rs553678770	371	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340289754 rs945575414	371	P>L		No	ClinGen TOPMed gnomAD
CA22104190 rs945575414	371	P>R		No	ClinGen TOPMed gnomAD
rs553678770 CA340289753	371	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762761457 CA22104191	373	L>F		No	ClinGen TOPMed
CA843804 rs781756895	374	V>F		No	ClinGen ExAC TOPMed gnomAD
CA843803 rs781756895	374	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1454626850 CA340289784	376	A>T		No	ClinGen gnomAD
rs768225318 CA843805	377	L>F		No	ClinGen ExAC TOPMed gnomAD
rs768225318 CA22104192	377	L>V		No	ClinGen ExAC TOPMed gnomAD
CA843806 rs778574259	378	M>V		No	ClinGen ExAC TOPMed gnomAD
rs369126505 CA843807	379	P>L		No	ClinGen ESP ExAC gnomAD
rs1329368638 CA340289801	379	P>T		No	ClinGen TOPMed gnomAD
CA22104193 rs1014091685	380	V>I		No	ClinGen Ensembl
rs193163259 CA843831	382	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1345828939 CA340280739	383	R>G		No	ClinGen TOPMed
rs775516581 CA843833	383	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1345828939 CA340280740	383	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA843835 rs763159768	388	A>D		No	ClinGen ExAC gnomAD
rs763159768 CA340280773	388	A>G		No	ClinGen ExAC gnomAD
rs763159768 CA340280774	388	A>V		No	ClinGen ExAC gnomAD
CA843837 rs139537448	389	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1429059510 CA340280793	391	M>I		No	ClinGen gnomAD
CA340280788 rs1326401993	391	M>V		No	ClinGen gnomAD
rs1295564577 CA340280799	392	A>D		No	ClinGen gnomAD
CA340280796 TCGA novel rs1569848391	392	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA340280805 rs1289388140	393	A>D		No	ClinGen TOPMed
CA340280802 rs1323631952	393	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA340280832 rs1309980923	397	S>A		No	ClinGen gnomAD
rs750843034 CA843840	398	L>P		No	ClinGen ExAC gnomAD
CA340280844 rs1373160559	399	T>N		No	ClinGen TOPMed
rs184173294 CA22264764	399	T>P		No	ClinGen 1000Genomes gnomAD
CA340280847 rs1283470005	400	S>T		No	ClinGen gnomAD
rs767037148 CA843843	401	I>L		No	ClinGen ExAC gnomAD
CA843845 rs200836976	404	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA340280883 rs1430681682	405	S>G		No	ClinGen TOPMed
CA843846 rs188924026	405	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746630728 CA843847	407	T>I		No	ClinGen ExAC gnomAD
CA843848 rs756923867	410	T>A		No	ClinGen ExAC TOPMed gnomAD
rs182008527 CA843849	411	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA22264765 COSM315361 rs947707023	411	I>T	lung ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs868262367 CA22264766	412	D>E		No	ClinGen Ensembl
CA843850 rs372937766	413	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA340280948 rs1315100389	415	Q>*		No	ClinGen gnomAD
CA843852 rs142604560	416	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA843853 rs146900022	416	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs768716366 CA843854	417	F>L		No	ClinGen ExAC gnomAD
CA843855 rs377226169	418	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs377226169 CA22264767	418	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs762048414 CA843856	418	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA340280970 rs1348367913	419	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1569848901 CA340280983	421	S>A		No	ClinGen Ensembl
CA340281005 rs1212970473	424	Q>*		No	ClinGen gnomAD
CA22264768 rs946305975	425	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1280711425 CA340281022	426	L>Q		No	ClinGen gnomAD
CA340281028 rs1232655073	427	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA340281026 rs1208518246	427	M>T		No	ClinGen gnomAD
rs772475145 CA843857	427	M>V		No	ClinGen ExAC gnomAD
CA340281036 rs1352989975	428	V>A		No	ClinGen TOPMed
rs1352989975 CA340281034	428	V>G		No	ClinGen TOPMed
TCGA novel	433	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271897563 CA340281083	434	V>M		No	ClinGen TOPMed gnomAD
CA843883 rs148103384	435	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA843882 rs761379470	435	V>M		No	ClinGen ExAC gnomAD
rs1282618494 CA340281094	436	F>L		No	ClinGen TOPMed
rs1450516118 CA340281110	438	V>A		No	ClinGen TOPMed
rs1297404498 CA340281119	440	I>V		No	ClinGen gnomAD
rs750018469 CA843884	441	S>R		No	ClinGen ExAC gnomAD
rs779856218 CA843886	442	I>V		No	ClinGen ExAC TOPMed gnomAD
rs754917964 CA843888	444	W>*		No	ClinGen ExAC gnomAD
rs534099478 CA843889	445	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1172818000 CA340281158	446	P>T		No	ClinGen TOPMed
CA22264943 rs748230603	447	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	447	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1429447877 CA340281175	448	I>M		No	ClinGen gnomAD
CA843891 rs373647432	448	I>T		No	ClinGen ESP ExAC gnomAD
CA340281198 rs1569853457	452	N>H		No	ClinGen Ensembl
rs747196715 CA843893	452	N>K		No	ClinGen ExAC TOPMed gnomAD
CA340281206 rs1160982859	453	S>G		No	ClinGen TOPMed
CA22264945 rs914678663	454	G>R		No	ClinGen TOPMed gnomAD
COSM1343225 CA843894 rs771100263	455	Q>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA340281219 rs771100263	455	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA340281223 rs1181451632	455	Q>H		No	ClinGen TOPMed
rs777032942 CA843895	457	F>I		No	ClinGen ExAC TOPMed
COSM263737 CA843897 rs368141578	458	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	460	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA843899 rs763462831	460	I>N		No	ClinGen ExAC gnomAD
CA340281254 rs1569853593	460	I>V		No	ClinGen Ensembl
CA340281277 rs1381425756	463	V>A		No	ClinGen gnomAD
TCGA novel	463	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA843900 rs766963227	465	S>N		No	ClinGen ExAC gnomAD
CA843901 rs772737919	467	L>Q		No	ClinGen ExAC gnomAD
rs1557479802 CA340281319	470	P>H		No	ClinGen Ensembl
CA340281318 rs1557479793	470	P>S		No	ClinGen Ensembl
CA340281328 rs1190689922	471	I>M		No	ClinGen TOPMed gnomAD
CA22264950 rs150185389	472	T>I		No	ClinGen ESP
CA22264949 rs150185389	472	T>S		No	ClinGen ESP
CA843904 rs771834200 COSM910441	473	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA843905 rs138167685	474	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA843907 rs765097977	476	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	477	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA843908 rs752636298	478	A>D		No	ClinGen ExAC gnomAD
CA843909 COSM1726347 rs758443854	479	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA843910 rs777972357	480	F>S		No	ClinGen ExAC gnomAD
rs1374458767 CA340281388	482	K>Q		No	ClinGen TOPMed
CA22264952 rs1056786279	482	K>R		No	ClinGen TOPMed
rs1387594923 CA340281401	483	R>S		No	ClinGen gnomAD
CA843912 rs371294116	486	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1416781455 CA340281417	486	E>G		No	ClinGen gnomAD
rs144046578 CA843911	486	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs537681535 CA843914	487	P>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	489	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414357370 CA340281451	490	F>Y		No	ClinGen TOPMed
CA843933 rs756388074	491	W>*		No	ClinGen ExAC gnomAD
CA843934 rs780364292	492	G>A		No	ClinGen ExAC gnomAD
rs373672831 CA843936	494	V>M		No	ClinGen ExAC TOPMed gnomAD
CA22265094 rs186369129	496	G>A		No	ClinGen 1000Genomes gnomAD
rs1262729073 CA340281517	498	G>A		No	ClinGen TOPMed
CA340281546 rs1286882823	500	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	502	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1265993 rs770302678 CA843940	503	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA843939 rs770302678	503	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM681853 rs201842032 CA843941	503	R>H	lung large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs201842032 CA340281594	503	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340281588 rs770302678	503	R>S		No	ClinGen ExAC TOPMed gnomAD
CA843943 rs775413914	507	E>D		No	ClinGen ExAC gnomAD
CA340281653 rs1254797616	507	E>G		No	ClinGen gnomAD
CA340281650 rs1176309946	507	E>K		No	ClinGen gnomAD
CA340281647 rs1176309946	507	E>Q		No	ClinGen gnomAD
CA340281666 rs1220871070	508	F>S		No	ClinGen gnomAD
CA340281687 rs1569857534	510	Y>S		No	ClinGen Ensembl
CA843944 rs762909807	511	P>L		No	ClinGen ExAC gnomAD
rs142122619 CA843945	512	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761833352 CA843947	513	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	514	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767455044 CA843948	515	C>Y		No	ClinGen ExAC gnomAD
rs75695974 CA843949	516	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1339340492 CA340281792	518	V>M		No	ClinGen TOPMed
CA843951 rs150024038	520	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756265866 CA843950	520	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1274578035 CA340281842	522	P>T		No	ClinGen gnomAD
TCGA novel	523	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1057379406 CA22265096	523	A>V		No	ClinGen TOPMed
rs754194259 CA843953	524	V>A		No	ClinGen ExAC gnomAD
CA843952 rs754194259	524	V>E		No	ClinGen ExAC gnomAD
CA340281861 rs1365901016	524	V>L		No	ClinGen gnomAD
CA843954 rs549710132	529	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340282006 rs748567609	532	Y>*		No	ClinGen ExAC gnomAD
rs1196143904 CA340282002	532	Y>C		No	ClinGen gnomAD
CA340282041 rs1192959618	535	I>M		No	ClinGen gnomAD
rs772678215 CA843956	535	I>V		No	ClinGen ExAC gnomAD
CA340282049 rs1186880053	536	L>H		No	ClinGen TOPMed
rs546396946 CA22265098	538	C>R		No	ClinGen Ensembl
CA843958 rs745443918	539	G>R		No	ClinGen ExAC TOPMed gnomAD
rs940889730 CA22265100	541	T>I		No	ClinGen TOPMed gnomAD
CA340282135 rs1461739580	542	A>V		No	ClinGen TOPMed
rs143280278 CA843959	543	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372274033 CA843961	544	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768521240 CA843962	545	I>V		No	ClinGen ExAC gnomAD
rs1306963532 CA340282205	547	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	549	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377502714 CA340282249	552	T>I		No	ClinGen TOPMed
rs539385800 CA843963	555	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA843964 rs761623507	555	I>S		No	ClinGen ExAC gnomAD
CA843965 rs767538169	557	E>Q		No	ClinGen ExAC gnomAD
rs994916140 CA22265101	559	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	560	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370215281 CA843989	562	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs190242298 CA843990	562	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370215281 CA340282321	562	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA843992 rs752056803	563	L>F		No	ClinGen ExAC gnomAD
CA843993 rs538829881	565	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA843994 rs538829881	565	W>C		No	ClinGen 1000Genomes ExAC gnomAD
CA843995 rs748854334	566	W>*		No	ClinGen ExAC TOPMed gnomAD
CA340282346 rs1403981594	566	W>*		No	ClinGen TOPMed
CA340282358 rs1330279113	568	R>Q		No	ClinGen gnomAD
CA843996 rs138580488 COSM535395	568	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1388832831 CA340282370	570	C>R		No	ClinGen TOPMed
rs1167455211 CA340282374	570	C>Y		No	ClinGen gnomAD
rs1450668994 CA340282395	574	E>K		No	ClinGen TOPMed
TCGA novel	576	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456794222 CA340282424	578	E>K		No	ClinGen gnomAD
rs746921720 CA844002	579	A>G		No	ClinGen ExAC TOPMed gnomAD
rs184128699 CA844004	580	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs994343262 CA22265371	581	E>D		No	ClinGen Ensembl
CA340282448 rs1374376294	581	E>G		No	ClinGen gnomAD
rs149305292 CA844005	581	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA844006 rs139604418	584	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763106238 CA844008	585	E>Q		No	ClinGen ExAC gnomAD
CA844009 rs764479667	586	I>L		No	ClinGen ExAC TOPMed gnomAD
CA340282477 rs764479667	586	I>V		No	ClinGen ExAC TOPMed gnomAD
rs536336459 CA844010	588	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs536336459 CA22265374	588	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs753392103 CA844013	592	G>R		No	ClinGen ExAC TOPMed gnomAD
rs850763 CA844014	593	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1277856451 CA340282528	594	C>F		No	ClinGen TOPMed gnomAD
CA22265375 rs778297474	594	C>W		No	ClinGen ExAC TOPMed gnomAD
CA340282530 rs1277856451	594	C>Y		No	ClinGen TOPMed gnomAD
CA340282534 rs1215705244	595	P>S		No	ClinGen gnomAD
rs1215705244 CA340282532	595	P>T		No	ClinGen gnomAD
rs752340886 CA844016	596	A>E		No	ClinGen ExAC TOPMed gnomAD
CA340282545 rs1208361350	597	G>R		No	ClinGen gnomAD
CA340282552 rs1488383995	598	G>D		No	ClinGen gnomAD
rs78427303 CA340282564	600	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78427303 CA844020	600	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745820385 CA844022	601	A>S		No	ClinGen ExAC gnomAD
rs769871897 CA844023	602	E>G		No	ClinGen ExAC gnomAD
rs1569864400 CA340282582	603	N>T		No	ClinGen Ensembl
rs577887479 CA340282590	604	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577887479 CA844024	604	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768808902 CA844026	605	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1399208153 CA340282597	605	S>R		No	ClinGen gnomAD
rs1338791680 CA340282602	606	L>R		No	ClinGen gnomAD
CA340282616 rs1235151466	608	Q>H		No	ClinGen gnomAD
CA844030 rs75538709	609	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375773416 CA844028	609	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA22265377 rs375773416	609	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs370412840 CA844032	610	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs370412840 CA844031	610	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1243278391 CA340282632	611	P>H		No	ClinGen gnomAD
CA844033 rs557187487	612	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs750235067 CA844059	613	A>G		No	ClinGen ExAC TOPMed gnomAD
rs758059910 CA844034	613	A>P		No	ClinGen ExAC TOPMed gnomAD
CA340283425 rs1333465342	614	P>Q		No	ClinGen gnomAD
CA844062 rs749251662	615	S>N		No	ClinGen ExAC gnomAD
CA844064 rs149032192	618	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574215071 CA22265877	620	K>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA340283523 rs1258175029	622	L>F		No	ClinGen gnomAD
CA340283525 rs1557488240	622	L>P		No	ClinGen Ensembl
CA340283542 rs1196648805	623	W>C		No	ClinGen gnomAD
CA340283530 rs1457223742 COSM1321004	623	W>R	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA844065 rs748338968	624	S>R		No	ClinGen ExAC gnomAD
rs772461163 TCGA novel CA844066	625	W>*	Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA340283607 rs1424658311	629	L>H		No	ClinGen gnomAD
rs1463411941 CA340283605	629	L>V		No	ClinGen TOPMed gnomAD
rs1431667820 CA340283616	630	S>F		No	ClinGen TOPMed gnomAD
rs747402330 CA844068	631	G>E		No	ClinGen ExAC TOPMed gnomAD
rs773702431 CA844067	631	G>R		No	ClinGen ExAC gnomAD
CA22265878 rs747402330	631	G>V		No	ClinGen ExAC TOPMed gnomAD
CA844069 rs771335656	633	P>L		No	ClinGen ExAC TOPMed gnomAD
CA340283681 rs1429711234	636	A>S		No	ClinGen gnomAD
CA340283694 rs1174788160	637	L>P		No	ClinGen TOPMed
CA340283742 rs1274635576	641	E>G		No	ClinGen gnomAD
rs763554828 CA844072	641	E>K		No	ClinGen ExAC gnomAD
rs763554828 CA844073	641	E>Q		No	ClinGen ExAC gnomAD
rs12040115 CA844074	644	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA844075 rs12040115	644	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA340283792 rs1476849415	646	E>G		No	ClinGen TOPMed
CA340283804 rs1480571782	647	Q>L		No	ClinGen gnomAD
CA844077 rs755798541	648	K>N		No	ClinGen ExAC gnomAD
CA340283820 rs1243976898	649	L>P		No	ClinGen TOPMed
CA844078 rs766209597	652	I>M		No	ClinGen ExAC
CA340283843 rs1216326098	652	I>V		No	ClinGen gnomAD
CA340283859 rs1569878130	653	E>G		No	ClinGen Ensembl
rs753666190 CA844079	654	E>G		No	ClinGen ExAC gnomAD
rs754993615 CA844080	656	P>A		No	ClinGen ExAC TOPMed gnomAD
CA340283894 rs754993615	656	P>S		No	ClinGen ExAC TOPMed gnomAD
rs779102010 CA844081	659	R>*		No	ClinGen ExAC gnomAD
rs200736723 CA844082	659	R>K		No	ClinGen ExAC gnomAD
CA340283923 rs1424660840	660	H>N		No	ClinGen TOPMed gnomAD
CA844083 rs758692069	660	H>R		No	ClinGen ExAC TOPMed gnomAD
rs925346484 CA22265879	661	V>A		No	ClinGen gnomAD
CA22265880 rs936852864	662	C>G		No	ClinGen TOPMed gnomAD
rs936852864 CA340283940	662	C>S		No	ClinGen TOPMed gnomAD
CA340283949 rs1178203092	662	C>Y		No	ClinGen gnomAD
rs1325428715 CA340283966	663	N>D		No	ClinGen TOPMed
CA340283985 rs1408716880	665	N>D		No	ClinGen TOPMed gnomAD
CA22265881 rs143549806	665	N>S		No	ClinGen ESP gnomAD
rs771155200 CA844086	671	A>S		No	ClinGen ExAC gnomAD
rs988232489 CA22265882	672	I>M		No	ClinGen Ensembl
rs781644406 CA844087	673	N>S		No	ClinGen ExAC gnomAD
CA340284110 rs1397526461	676	L>F		No	ClinGen gnomAD
rs770336986 CA844089	676	L>P		No	ClinGen ExAC gnomAD
rs1356914497 CA340284123	677	W>C		No	ClinGen gnomAD
TCGA novel	680	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271467648 CA340284152	680	F>V		No	ClinGen TOPMed
CA844091 rs531016028	681	A>T		No	ClinGen ExAC TOPMed gnomAD
rs377657949 CA844092	681	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q2M3M2

1 regional properties for Q2M3M2

Type	Name	Position	InterPro Accession
conserved_site	Sodium/solute symporter, conserved site	183 - 208	IPR018212

Functions

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

3 GO annotations of cellular component

Name	Definition
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
glucose:sodium symporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glucose(out) + Na+(out) = glucose(in) + Na+(in).
low-affinity glucose:sodium symporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glucose(out) + Na+(out) = glucose(in) + Na+(in). In low-affinity transport the transporter is able to bind the solute only if it is present at very high concentrations.

2 GO annotations of biological process

Name	Definition
hexose transmembrane transport	The process in which hexose is transported across a membrane. Hexoses are aldoses with a chain of six carbon atoms in the molecule.
sodium ion transport	The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q49B93	Slc5a12	Sodium-coupled monocarboxylate transporter 2	Mus musculus (Mouse)	PR
Q63008	Slc5a5	Sodium/iodide cotransporter	Rattus norvegicus (Rat)	PR
Q5BL81	slc5a8	Sodium-coupled monocarboxylate transporter 1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MSKELAAMGP	GASGDGVRTE	TAPHIALDSR	VGLHAYDISV	VVIYFVFVIA	VGIWSSIRAS
70	80	90	100	110	120
RGTIGGYFLA	GRSMSWWPIG	ASLMSSNVGS	GLFIGLAGTG	AAGGLAVGGF	EWNATWLLLA
130	140	150	160	170	180
LGWVFVPVYI	AAGVVTMPQY	LKKRFGGQRI	QVYMSVLSLI	LYIFTKISTD	IFSGALFIQM
190	200	210	220	230	240
ALGWNLYLST	GILLVVTAVY	TIAGGLMAVI	YTDALQTVIM	VGGALVLMFL	GFQDVGWYPG
250	260	270	280	290	300
LEQRYRQAIP	NVTVPNTTCH	LPRPDAFHIL	RDPVSGDIPW	PGLIFGLTVL	ATWCWCTDQV
310	320	330	340	350	360
IVQRSLSAKS	LSHAKGGSVL	GGYLKILPMF	FIVMPGMISR	ALFPDEVGCV	DPDVCQRICG
370	380	390	400	410	420
ARVGCSNIAY	PKLVMALMPV	GLRGLMIAVI	MAALMSSLTS	IFNSSSTLFT	IDVWQRFRRK
430	440	450	460	470	480
STEQELMVVG	RVFVVFLVVI	SILWIPIIQS	SNSGQLFDYI	QAVTSYLAPP	ITALFLLAIF
490	500	510	520	530	540
CKRVTEPGAF	WGLVFGLGVG	LLRMILEFSY	PAPACGEVDR	RPAVLKDFHY	LYFAILLCGL
550	560	570	580	590	600
TAIVIVIVSL	CTTPIPEEQL	TRLTWWTRNC	PLSELEKEAH	ESTPEISERP	AGECPAGGGA
610	620	630	640	650	660
AENSSLGQEQ	PEAPSRSWGK	LLWSWFCGLS	GTPEQALSPA	EKAALEQKLT	SIEEEPLWRH
670	680
VCNINAVLLL	AINIFLWGYF	A