AiPD: Autoinhibited Protein Database

Q14940

Gene name	SLC9A5 (NHE5)
Protein name	Sodium/hydrogen exchanger 5
Names	Na(+)/H(+) exchanger 5, NHE-5, Solute carrier family 9 member 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6553
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

668-750 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

668-750 (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 Q14940

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q14940-F1	Predicted				AlphaFoldDB

603 variants for Q14940

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1031486614 CA282324001	2	L>V		No	ClinGen TOPMed
rs957550233 CA282324006	3	R>H		No	ClinGen TOPMed gnomAD
CA396315817 rs781377833	4	A>P		No	ClinGen ExAC TOPMed gnomAD
CA396315819 rs781377833	4	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8106651 rs781377833	4	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1414657613 CA396315830	5	A>T		No	ClinGen gnomAD
CA396315864 rs1291842678	7	S>C		No	ClinGen TOPMed gnomAD
rs753680193 CA8106652	9	L>F		No	ClinGen ExAC TOPMed gnomAD
CA396315900 rs1283819404	10	A>S		No	ClinGen gnomAD
CA396315907 rs1315260430	10	A>V		No	ClinGen gnomAD
CA396315917 rs1281046797	11	L>P		No	ClinGen gnomAD
rs1208583790 CA396315926	12	P>S		No	ClinGen gnomAD
rs778721211 CA396315955	14	A>E		No	ClinGen ExAC TOPMed gnomAD
CA282324021 rs796495451	14	A>S		No	ClinGen Ensembl
rs778721211 CA8106654	14	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1455515919 CA396315973	15	G>E		No	ClinGen TOPMed
rs1455515919 CA396315969	15	G>V		No	ClinGen TOPMed
rs964646083 CA282324028	16	A>V		No	ClinGen TOPMed
CA396316041 rs1263412927	20	P>A		No	ClinGen TOPMed
CA396316056 rs1350482144	21	T>A		No	ClinGen TOPMed
CA396316063 rs1405333839	21	T>I		No	ClinGen gnomAD
CA8106656 rs771983433	22	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA396316101 rs1028397134	23	K>N		No	ClinGen gnomAD
CA8106657 rs777496178	25	E>Q		No	ClinGen ExAC gnomAD
CA282324054 rs999093356	26	S>A		No	ClinGen Ensembl
rs1332734951 CA396316145	26	S>F		No	ClinGen gnomAD
CA8106658 rs746507681	27	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8106660 rs368056449	29	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA396316177 rs954112194	29	E>K		No	ClinGen TOPMed gnomAD
rs954112194 CA282324063	29	E>Q		No	ClinGen TOPMed gnomAD
rs1304285197 CA396316196	30	P>A		No	ClinGen TOPMed gnomAD
CA396316205 rs1316587688	30	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA396316194 rs1304285197	30	P>S		No	ClinGen TOPMed gnomAD
CA396316211 rs976150253	31	P>S		No	ClinGen TOPMed gnomAD
CA282324065 rs976150253	31	P>T		No	ClinGen TOPMed gnomAD
CA8106662 rs770073787	32	P>L		No	ClinGen ExAC gnomAD
rs763374146 CA8106664	33	G>D		No	ClinGen ExAC gnomAD
rs775862462 CA8106663	33	G>S		No	ClinGen ExAC TOPMed gnomAD
rs867464551 CA282324109	35	E>D		No	ClinGen Ensembl
CA396316275 rs1469549687	35	E>G		No	ClinGen gnomAD
rs1193852107 CA396316291	36	L>P		No	ClinGen gnomAD
CA8106666 rs751694797	38	R>C		No	ClinGen ExAC gnomAD
CA396316318 rs1452026038	38	R>H		No	ClinGen gnomAD
CA396316316 rs1452026038	38	R>L		No	ClinGen gnomAD
rs751694797 CA282324122	38	R>S		No	ClinGen ExAC gnomAD
CA282324129 rs761857457	43	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1422288311 CA396316353	43	E>K		No	ClinGen gnomAD
CA396316380 rs1398497645	47	P>T		No	ClinGen gnomAD
CA396316389 rs1370434797	48	Y>C		No	ClinGen gnomAD
CA8106670 rs756302250	48	Y>H		No	ClinGen ExAC gnomAD
rs764945795 CA8106671	51	A>T		No	ClinGen ExAC gnomAD
rs1271950110 CA396316408	51	A>V		No	ClinGen gnomAD
CA396316409 rs758329220	52	L>M		No	ClinGen ExAC gnomAD
CA396316427 rs1190640145	54	I>T		No	ClinGen TOPMed
CA396316445 rs1251972228	57	A>V		No	ClinGen gnomAD
rs942316545 CA282324203	58	S>T		No	ClinGen TOPMed gnomAD
rs867266288 CA282324207	60	A>T		No	ClinGen Ensembl
CA8106696 rs757198529	63	V>A		No	ClinGen ExAC gnomAD
CA396317172 rs757198529	63	V>G		No	ClinGen ExAC gnomAD
rs780851237 CA8106697	64	F>L		No	ClinGen ExAC gnomAD
CA8106701 rs61743934	68	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156954686 CA396317290	68	R>Q		No	ClinGen gnomAD
CA8106700 rs61743934	68	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8106703 rs774643155	71	T>I		No	ClinGen ExAC gnomAD
TCGA novel	72	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	74	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396317417 rs1399870685	74	V>I		No	ClinGen gnomAD
rs748659026 CA8106704	77	S>N		No	ClinGen ExAC gnomAD
CA282325981 rs1012845771	78	C>Y		No	ClinGen Ensembl
CA396317599 rs1334813638	79	L>P		No	ClinGen gnomAD
CA8106706 rs773226370	86	V>A		No	ClinGen ExAC TOPMed gnomAD
CA396317824 rs1466509886	87	L>P		No	ClinGen TOPMed
CA396317860 rs1449455479	88	G>E		No	ClinGen gnomAD
TCGA novel	89	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376739539 CA8106708	98	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA282325990 rs369342801	99	E>G		No	ClinGen ESP
CA396318240 rs1482525784	101	Q>*		No	ClinGen gnomAD
rs759625127 CA8106710	103	E>V		No	ClinGen ExAC TOPMed gnomAD
rs763992398 CA8106711	105	G>A		No	ClinGen ExAC gnomAD
rs763992398 CA396318393	105	G>V		No	ClinGen ExAC gnomAD
rs749949450 CA8106715	113	P>A		No	ClinGen ExAC gnomAD
rs1298552285 CA396318693	115	I>N		No	ClinGen gnomAD
rs779389625 CA8106717	118	D>G		No	ClinGen ExAC gnomAD
rs1439531746 TCGA novel CA396318933	122	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs1371183686 CA396318908	122	F>V		No	ClinGen gnomAD
CA396319007 rs1242837678	124	P>S		No	ClinGen TOPMed
rs779317383 CA8106720	128	F>L		No	ClinGen ExAC gnomAD
rs1310980656 CA396319163	129	F>L		No	ClinGen gnomAD
rs78465521 CA282326015	130	D>Y		No	ClinGen Ensembl
CA8106721 rs371456290	132	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA396319288 rs1252298637	133	G>C		No	ClinGen gnomAD
CA8106722 rs772621187	134	A>T		No	ClinGen ExAC gnomAD
CA396319490 rs747437177	140	V>L		No	ClinGen ExAC gnomAD
COSM194372 rs747437177 CA8106724	140	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA396319505 rs1193816128	141	V>I		No	ClinGen TOPMed
CA8106725 rs373577571	142	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA282326044 rs1017740126	143	T>P		No	ClinGen TOPMed
CA8106726 rs776513332	148	F>S		No	ClinGen ExAC gnomAD
rs964815120 CA282326057	150	T>A		No	ClinGen Ensembl
CA396319803 rs774344640	152	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8106729 rs774344640	152	A>T		No	ClinGen ExAC TOPMed gnomAD
CA396319819 rs1463866214	153	A>T		No	ClinGen gnomAD
TCGA novel	156	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396320034 rs1597345339	158	Q>K		No	ClinGen Ensembl
rs1166745715 CA396320099	159	Q>H		No	ClinGen gnomAD
CA8106730 rs761679068	160	A>P		No	ClinGen ExAC
CA396320181 rs1394782060	163	V>I		No	ClinGen TOPMed gnomAD
rs764688785 CA8106754	164	A>V		No	ClinGen ExAC gnomAD
rs985344954 CA282326964	165	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA396321741 rs1345356474	167	V>L		No	ClinGen TOPMed
TCGA novel	168	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	170	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396321931 rs1178887370	176	L>P		No	ClinGen TOPMed gnomAD
rs370582171 CA8106757	178	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8106758 rs751861862 COSM460500	182	S>L	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8106761 rs745985201	183	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1597347785 CA396322125	184	V>G		No	ClinGen Ensembl
CA8106764 rs201610107	185	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773118289 CA8106766	186	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs541041935 CA8106765	186	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770945174 CA8106768	187	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1377159140 CA396322196	188	A>V		No	ClinGen gnomAD
CA396322211 rs1597347857	189	V>G		No	ClinGen Ensembl
CA396322202 rs1301405164	189	V>M		No	ClinGen gnomAD
rs917998023 CA282327010	190	L>I		No	ClinGen gnomAD
CA396322298 rs1597347878	196	V>G		No	ClinGen Ensembl
rs200940212 CA8106773	198	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1280948831 CA396322343	200	E>K		No	ClinGen gnomAD
CA8106774 rs377169941	202	L>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	203	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207772744 CA396322372	203	F>L		No	ClinGen gnomAD
CA8106775 rs752000112	204	I>V		No	ClinGen ExAC gnomAD
CA8106778 rs368560910	205	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs757530041 CA8106776	205	I>V		No	ClinGen ExAC TOPMed gnomAD
rs200636776 CA8106779	206	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201517629 COSM1235191 CA8106781	209	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA282327049 rs1020930496	214	D>G		No	ClinGen TOPMed
CA282327047 rs1014520422	214	D>N		No	ClinGen TOPMed
CA282327051 rs967583808	215	A>T		No	ClinGen TOPMed gnomAD
CA8106787 rs745806251	218	V>G		No	ClinGen ExAC gnomAD
rs372419102 CA8106786	218	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8106812 rs549199804	225	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1597348421 CA396322538	227	F>S		No	ClinGen Ensembl
CA396322548 rs1478401443	229	E>*		No	ClinGen gnomAD
rs766811206 CA8106814	230	M>T		No	ClinGen ExAC gnomAD
CA396322576 rs1476330913	233	A>T		No	ClinGen TOPMed gnomAD
rs1597348483 CA396322590	235	V>M		No	ClinGen Ensembl
CA8106816 rs760032923	236	Q>P		No	ClinGen ExAC gnomAD
CA396322606 rs1320308538	237	A>S		No	ClinGen TOPMed gnomAD
CA396322604 rs1320308538	237	A>T		No	ClinGen TOPMed gnomAD
CA282327316 rs908784471	238	T>A		No	ClinGen TOPMed gnomAD
CA282327320 rs908784471	238	T>S		No	ClinGen TOPMed gnomAD
CA396322634 rs1276118676	241	L>R		No	ClinGen gnomAD
rs1399282444 CA396322631	241	L>V		No	ClinGen gnomAD
CA282327321 rs1056252384	243	G>V		No	ClinGen TOPMed
rs752814789 CA8106818	244	V>I		No	ClinGen ExAC gnomAD
CA8106821 rs777947027	245	A>P		No	ClinGen ExAC gnomAD
CA8106820 rs777947027	245	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA396322671 rs1476665260	246	S>P		No	ClinGen gnomAD
CA282327597 rs1041907806	248	F>L		No	ClinGen TOPMed
rs1597349151 CA396322716	253	G>D		No	ClinGen Ensembl
CA282327611 rs559429703	254	G>R		No	ClinGen 1000Genomes gnomAD
rs1402352962 CA396322730 COSM972372	256	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	256	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA282327626 rs539647686	257	V>M		No	ClinGen TOPMed gnomAD
CA396322779 rs374133289	263	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370704309 CA8106861	263	F>S		No	ClinGen ESP ExAC gnomAD
CA396322792 rs1342408097	266	A>T		No	ClinGen TOPMed gnomAD
rs1244173654 CA396322797	266	A>V		No	ClinGen gnomAD
CA396322816 rs1489255321	270	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM972373 rs1217222716 CA396322818	270	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs925011400 CA282327654	274	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8106863 rs752697586	275	V>I		No	ClinGen ExAC gnomAD
CA8106864 rs533360234	276	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368027957 CA8106865	276	R>H		No	ClinGen ESP ExAC gnomAD
rs533360234 CA282327661	276	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370153228 CA8106866	278	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396322872 rs780862622	279	E>K		No	ClinGen ExAC gnomAD
CA8106868 rs780862622	279	E>Q		No	ClinGen ExAC gnomAD
rs745468278 CA8106869	280	P>L		No	ClinGen ExAC gnomAD
CA8106871 rs780337818	285	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8106873 rs769147019 COSM1266081	287	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8106875 rs761851419	289	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396322943 rs1240873210	291	Y>H		No	ClinGen gnomAD
rs1285226045 CA396322969	294	A>V		No	ClinGen gnomAD
CA396322997 rs1217899898	296	M>I		No	ClinGen gnomAD
rs892270644 CA282327691	297	A>S		No	ClinGen Ensembl
rs1212004305 CA396323018	298	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8106877 rs773507513	299	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1013511390 CA282327695	300	S>A		No	ClinGen Ensembl
COSM1679176 rs1188402885 CA396323041	301	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1157456102 CA396323065	303	L>F		No	ClinGen gnomAD
TCGA novel	303	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396323080 rs1488956636	304	A>G		No	ClinGen gnomAD
rs1255673945 CA396323161	306	T>I		No	ClinGen gnomAD
rs1597350245 CA396323173	307	M>I		No	ClinGen Ensembl
CA8106899 rs775479260	307	M>T		No	ClinGen ExAC gnomAD
CA396323252 rs1197754406	314	K>N		No	ClinGen gnomAD
CA396323311 rs1335224226	317	E>Q		No	ClinGen TOPMed
CA8106902 rs751561164	317	E>V		No	ClinGen ExAC gnomAD
rs922286773 CA282328082	318	A>T		No	ClinGen TOPMed
rs767056170 CA8106904	320	I>V		No	ClinGen ExAC gnomAD
rs199608807 CA8106905	322	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA282328119 rs1028598636	325	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA396323496 rs1299847227	325	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8106906 rs755852418	328	V>A		No	ClinGen ExAC TOPMed gnomAD
rs765993166 CA8106907	329	K>R		No	ClinGen ExAC gnomAD
CA396323743 rs1166974556	333	K>T		No	ClinGen TOPMed
TCGA novel	334	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8106908 rs753449474	335	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8106909 rs755358798	337	S>C		No	ClinGen ExAC
TCGA novel	339	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	340	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396325345 rs1228423459	341	T>I		No	ClinGen gnomAD
CA8106911 rs748695342	342	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	347	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA282330330 rs759050612	347	L>V		No	ClinGen Ensembl
CA8106915 rs542721154	352	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777020113 CA8106916	357	W>*		No	ClinGen ExAC gnomAD
CA396325809 rs1288661586	358	A>T		No	ClinGen TOPMed gnomAD
rs746036308 CA282330339	359	W>*		No	ClinGen ExAC gnomAD
rs746036308 CA8106917	359	W>C		No	ClinGen ExAC gnomAD
CA396325830 rs1413123094	359	W>R		No	ClinGen gnomAD
CA396326187 rs1448261177	371	I>V		No	ClinGen gnomAD
CA396326233 rs1283144463	373	F>Y		No	ClinGen gnomAD
CA282330372 rs775235682	375	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs775235682 CA396326292	375	R>G		No	ClinGen TOPMed gnomAD
rs561263656 CA8106922	376	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA396326310 rs1288786410	376	A>V		No	ClinGen gnomAD
rs528679277	377	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8106924 rs765827160	378	G>S		No	ClinGen ExAC
rs567278884 CA8106953	379	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs780107146 CA8106954	381	L>V		No	ClinGen ExAC gnomAD
COSM972377 rs1398891789 CA396326492	382	Q>H	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs761077744 CA8106956	382	Q>L		No	ClinGen ExAC gnomAD
CA8106957 rs777559010	384	W>C		No	ClinGen ExAC TOPMed gnomAD
CA396326516 rs1391380275	384	W>R		No	ClinGen gnomAD
rs1567410602 CA396326536	385	V>M		No	ClinGen Ensembl
rs747017367 CA8106958	389	F>C		No	ClinGen ExAC gnomAD
rs534800900 CA8106961	390	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8106960 rs770844150	390	R>W		No	ClinGen ExAC TOPMed
rs1382018266 CA396326784	400	V>M		No	ClinGen TOPMed gnomAD
rs775024299 CA8106964	402	M>L		No	ClinGen ExAC TOPMed gnomAD
CA8106965 rs373553376	404	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs764367624 CA8106966	406	G>D		No	ClinGen ExAC gnomAD
CA282330686 rs766839108	408	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766839108 CA8106970	408	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762466239 COSM471935 CA8106969	408	R>W	kidney liver Variant assessed as Somatic; 4.675e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs750571006 CA8106971	409	G>V		No	ClinGen ExAC gnomAD
rs35182421	410	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8106973 rs780124742	414	A>D		No	ClinGen ExAC gnomAD
TCGA novel	415	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754013008 CA8106974	416	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1387826145 CA396327129	421	R>K		No	ClinGen gnomAD
CA396327154 rs1223342917	423	K>E		No	ClinGen TOPMed
TCGA novel	429	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8106978 rs770892877	441	T>A		No	ClinGen ExAC gnomAD
CA8106981 CA282330781 rs75549387	444	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8106980 rs75549387	444	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1443488930 CA396327745	452	L>P		No	ClinGen gnomAD
rs1383945104 CA396327781	454	K>N		No	ClinGen gnomAD
CA396327855 rs1597351613	458	V>G		No	ClinGen Ensembl
CA8107000 rs181872913	461	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748811643 CA8107001	464	H>R		No	ClinGen ExAC gnomAD
CA8107002 rs768234396	465	K>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	466	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295032270 CA396328063	470	Q>H		No	ClinGen TOPMed
rs747754091	475	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs774178473 CA8107003	475	H>Y		No	ClinGen ExAC gnomAD
CA282331074 rs909696220	486	D>V		No	ClinGen Ensembl
CA396328570 rs1467565376	486	D>Y		No	ClinGen gnomAD
CA396328589 rs1322443141	487	V>I		No	ClinGen gnomAD
CA396328678 rs1567411354	490	H>Y		No	ClinGen Ensembl
TCGA novel	492	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	492	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8107025 rs747365256	494	H>R		No	ClinGen ExAC gnomAD
rs1597351913 CA396328907	498	D>G		No	ClinGen Ensembl
CA282331078 rs961290431	499	R>G		No	ClinGen Ensembl
TCGA novel	499	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306320150 CA396329208	500	W>*		No	ClinGen gnomAD
rs1270135312 CA396329291	503	F>I		No	ClinGen gnomAD
CA396329424 rs1597352780	507	Y>S		No	ClinGen Ensembl
rs947360399 CA282331364	514	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs781341421 CA8107048	514	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8107049 rs768416025	515	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8107050 rs770275880	515	R>Q		No	ClinGen ExAC gnomAD
CA396329625 rs1391202005	516	S>L		No	ClinGen gnomAD
CA8107051 rs775598551	517	A>T		No	ClinGen ExAC gnomAD
CA8107052 rs762992042	517	A>V		No	ClinGen ExAC gnomAD
rs768684916 CA8107053	518	Y>N		No	ClinGen ExAC gnomAD
CA8107054 rs774656218	519	R>C		No	ClinGen ExAC TOPMed gnomAD
rs761883254 CA8107055	519	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	519	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM972381 CA8107057 rs753560981	521	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs937568624 CA282331386	521	R>W		No	ClinGen TOPMed gnomAD
CA8107058 rs759593586	522	D>N		No	ClinGen ExAC gnomAD
rs752639977 CA8107060	525	W>L		No	ClinGen ExAC gnomAD
rs1220764916 CA396329883 COSM972382	527	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1288565176 CA396329914	528	Y>C		No	ClinGen gnomAD
rs758001516 CA8107061	529	Y>C		No	ClinGen ExAC
CA8107062 rs199753728	530	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM972384 rs781665116 CA8107065	534	R>Q	endometrium Variant assessed as Somatic; 9.28e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs756859968 CA8107064	534	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746212337 CA8107066	535	D>G		No	ClinGen ExAC gnomAD
CA282331438 rs1016637651	541	D>N		No	ClinGen TOPMed
CA396331153 COSM972385 rs1335562611	546	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs186121912 CA8107089	550	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1567413223 CA396331273	553	T>I		No	ClinGen Ensembl
rs1597354695 CA396331263	553	T>P		No	ClinGen Ensembl
CA396331291 rs1278108133	555	P>S		No	ClinGen gnomAD
rs1597354744 CA396331339	557	M>I		No	ClinGen Ensembl
rs1198806361 CA396331344	558	P>A		No	ClinGen TOPMed gnomAD
CA396331360 rs1262661912	559	S>R		No	ClinGen gnomAD
rs376890989 CA8107093	560	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA282332143 rs200404701	560	R>H		No	ClinGen gnomAD
rs556818212 CA396331400	563	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556818212 CA8107094	563	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8107095 rs747168030	564	A>T		No	ClinGen ExAC gnomAD
rs1179450963 CA396331476	568	V>L		No	ClinGen gnomAD
rs1052524457 CA282332168	570	N>K		No	ClinGen TOPMed
TCGA novel	571	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775417861 CA8107097	572	L>P		No	ClinGen ExAC gnomAD
CA8107121 rs771577662	574	E>D		No	ClinGen ExAC gnomAD
rs1428612982 CA396331636	575	S>T		No	ClinGen gnomAD
CA8107122 rs772705073	577	S>C		No	ClinGen ExAC gnomAD
CA396331663 rs1597355130	577	S>R		No	ClinGen Ensembl
CA396331676 rs1567413555	578	G>A		No	ClinGen Ensembl
CA8107124 rs368066325	579	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1289282714 CA396331696	580	C>R		No	ClinGen gnomAD
CA396331701 rs1486670750	580	C>Y		No	ClinGen gnomAD
TCGA novel	584	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597355204 CA396331789	585	V>G		No	ClinGen Ensembl
CA396331807 rs1186728670	586	I>T		No	ClinGen gnomAD
TCGA novel	589	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260526843 CA396331863	589	V>I		No	ClinGen gnomAD
CA8107126 COSM972386 rs375911278	590	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs372898190 CA8107127 COSM972387	590	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs758935237 CA8107129	593	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA396331980 rs1331301681	595	R>C		No	ClinGen TOPMed
rs1163401561 CA396331984	595	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs778053322 CA8107130	596	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8107132 rs757597015	606	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8107133 rs781599367	608	L>R		No	ClinGen ExAC gnomAD
CA8107135 rs768350811	609	Y>*		No	ClinGen ExAC gnomAD
CA8107134 rs746056125	609	Y>C		No	ClinGen ExAC gnomAD
CA396332254 rs1179116662	609	Y>H		No	ClinGen TOPMed
rs1016389176 CA282332433	611	P>A		No	ClinGen Ensembl
rs550331395 CA8107136	611	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8107139 rs772748191	612	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760209962 CA8107140	612	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs760209962 CA396332337	612	R>L		No	ClinGen ExAC
rs770377841 CA8107142	613	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8107144 COSM1226609 rs759158210	613	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8107143 rs770377841	613	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	614	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213408231 CA396333252	615	Y>*		No	ClinGen gnomAD
rs1597360149 CA396333249	615	Y>S		No	ClinGen Ensembl
TCGA novel	620	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs558004056 CA8107165	621	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA282334936 rs756960539 COSM972388	621	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs756960539 CA8107166	621	R>L		No	ClinGen ExAC TOPMed gnomAD
CA282334943 rs933733493	622	H>R		No	ClinGen TOPMed
CA8107168 rs762345507	623	F>L		No	ClinGen ExAC gnomAD
CA396333311 rs1163447535	624	I>N		No	ClinGen gnomAD
CA282334952 rs1046927060	624	I>V		No	ClinGen TOPMed
CA8107169 rs576356728	628	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA396333355 rs1375697247	630	E>D		No	ClinGen TOPMed
CA8107171 rs543707765	630	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA8107173 rs200168021	631	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766655157 CA8107172	631	R>W		No	ClinGen ExAC TOPMed gnomAD
rs758203225 CA8107174	633	D>G		No	ClinGen ExAC gnomAD
CA396333368 rs1446335127	633	D>N		No	ClinGen gnomAD
rs777476527 CA8107175	634	K>*		No	ClinGen ExAC TOPMed
CA396333377 rs1206291681	634	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	635	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757169178 CA8107178	636	V>A		No	ClinGen ExAC gnomAD
rs757169178 CA8107177	636	V>G		No	ClinGen ExAC gnomAD
rs1038270988 CA282334985	636	V>I		No	ClinGen TOPMed
rs1290111023 CA396333403	638	Q>*		No	ClinGen gnomAD
rs769149966 CA8107180 COSM703873	643	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1004904229 CA282334990	643	R>W		No	ClinGen TOPMed gnomAD
rs561872101 CA8107182	644	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8107181 rs775232645	644	R>W		No	ClinGen ExAC gnomAD
rs76572348 CA282335000	646	E>G		No	ClinGen Ensembl
CA396333460 rs1248790844	647	S>A		No	ClinGen gnomAD
rs372540427 CA8107183	648	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356100897 CA396333482	650	S>P		No	ClinGen gnomAD
CA396333488 rs1228863661	651	T>A		No	ClinGen TOPMed
TCGA novel rs1208377829 CA396333492	651	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA396333499 rs1406853162	652	K>N		No	ClinGen TOPMed
CA8107184 rs774853159	652	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1447754465 CA396333504	653	H>L		No	ClinGen gnomAD
rs1338996286 CA396333509	654	N>D		No	ClinGen TOPMed
CA8107185 rs762468262	654	N>S		No	ClinGen ExAC gnomAD
CA396333526 rs1246238686	656	C>S		No	ClinGen gnomAD
rs1412949721 CA396333532	657	F>L		No	ClinGen TOPMed
rs1462640713 CA396333545	659	K>E		No	ClinGen gnomAD
CA8107186 rs768047954	663	R>*		No	ClinGen ExAC gnomAD
CA8107187 rs377060134	663	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA396333579 rs1471695640	664	P>T		No	ClinGen gnomAD
rs201186357 CA8107188	665	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA282335029 rs201186357	665	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8107189 rs766311207	665	R>H		No	ClinGen ExAC TOPMed gnomAD
CA396333584 rs766311207	665	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1399735004 CA396333589	666	K>T		No	ClinGen gnomAD
CA8107191 rs759746267	667	T>I		No	ClinGen ExAC TOPMed gnomAD
rs763930444 CA8107192	669	R>C		No	ClinGen ExAC TOPMed gnomAD
CA282335065 rs763930444	669	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8107193 rs751330671	669	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751330671 CA396333606	669	R>L		No	ClinGen ExAC TOPMed gnomAD
rs757179033 CA8107194	670	R>G		No	ClinGen ExAC gnomAD
rs781224911 CA8107195	670	R>K		No	ClinGen ExAC gnomAD
rs759799150 CA8107209	673	D>H		No	ClinGen ExAC gnomAD
CA396334522 rs1182622909	674	G>V		No	ClinGen gnomAD
rs370631480 CA8107210	676	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8107211 COSM1581761 rs747233063	676	A>V	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA282335406 rs984195080	679	E>D		No	ClinGen Ensembl
rs1017784723 CA282335414	681	T>A		No	ClinGen TOPMed
rs1179682186 CA396334752	683	G>E		No	ClinGen gnomAD
rs1179682186 CA396334758	683	G>V		No	ClinGen gnomAD
rs750383445 CA8107214	685	H>N		No	ClinGen ExAC gnomAD
CA396334786 rs1183333388	685	H>R		No	ClinGen TOPMed gnomAD
CA8107215 COSM3691099 rs756005398	686	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8107216 rs565752422	686	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA282335446 rs1037209784	687	G>D		No	ClinGen Ensembl
TCGA novel	694	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA282335932 rs201953318	695	A>T		No	ClinGen gnomAD
CA396335495 rs1377385838	696	V>A		No	ClinGen gnomAD
CA8107230 rs763022359	697	I>L		No	ClinGen ExAC gnomAD
CA396335573 rs1167166710	699	T>S		No	ClinGen gnomAD
CA8107233 rs367947198	700	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	700	V>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293171125 CA396335735	706	E>K		No	ClinGen gnomAD
TCGA novel	707	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1269066783 CA396335771	707	E>K		No	ClinGen TOPMed
CA396335829 rs766389319	708	E>D		No	ClinGen ExAC TOPMed
CA8107237 rs753787983	709	S>C		No	ClinGen ExAC
CA8107240 rs752461284	710	D>G		No	ClinGen ExAC gnomAD
rs764771319 CA8107239	710	D>N		No	ClinGen ExAC gnomAD
CA396335909 rs1364439097	711	S>N		No	ClinGen gnomAD
CA8107245 rs202201691	719	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs77908037 CA282335977	719	D>V		No	ClinGen Ensembl
CA396336247 rs1205247833	724	F>S		No	ClinGen gnomAD
rs1276501474 CA396336298	727	R>C		No	ClinGen TOPMed
rs769869221 CA8107251	727	R>H		No	ClinGen ExAC gnomAD
CA8107250 rs769869221	727	R>P		No	ClinGen ExAC gnomAD
rs768739346 CA8107253	728	A>P		No	ClinGen ExAC gnomAD
CA8107254 rs773100125	729	T>P		No	ClinGen ExAC gnomAD
rs1164465849 CA396336354	729	T>S		No	ClinGen gnomAD
CA8107256 rs766229636	732	V>A		No	ClinGen ExAC TOPMed gnomAD
rs760420354 CA396336444	732	V>F		No	ClinGen ExAC TOPMed gnomAD
CA8107255 rs760420354	732	V>I		No	ClinGen ExAC TOPMed gnomAD
rs530527126 CA8107258	733	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8107259 rs201718658	736	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8107260 rs75080122	738	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA282336039 rs952173796	738	V>G		No	ClinGen Ensembl
rs1413912815 CA396338128	741	S>G		No	ClinGen gnomAD
CA396338135 rs1173885101	741	S>N		No	ClinGen gnomAD
CA8107282 rs767930519	745	C>S		No	ClinGen ExAC TOPMed gnomAD
rs767930519 CA396338169	745	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1307143395 CA396338174	746	P>S		No	ClinGen gnomAD
rs1368365624 CA396338182	747	S>T		No	ClinGen gnomAD
rs878874218 CA282338234	749	R>G		No	ClinGen Ensembl
CA282338250 rs756654496	749	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8107284 rs756654496	749	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA396338229 rs1299849932	753	P>H		No	ClinGen TOPMed gnomAD
rs1299849932 CA396338231	753	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	754	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551643826 CA282338253	755	P>L		No	ClinGen gnomAD
rs1400713979 CA396338263	756	T>A		No	ClinGen gnomAD
CA8107286 rs754323324	757	C>F		No	ClinGen ExAC gnomAD
CA8107288 rs779044084	761	E>Q		No	ClinGen ExAC gnomAD
CA8107289 rs748437319	762	L>F		No	ClinGen ExAC gnomAD
rs748437319 CA396338349	762	L>V		No	ClinGen ExAC gnomAD
rs1444132428 CA396338382	764	W>C		No	ClinGen TOPMed gnomAD
rs1449978937 CA396338422	767	G>A		No	ClinGen gnomAD
CA396338416 rs1421614554	767	G>R		No	ClinGen gnomAD
rs1449978937 CA396338423	767	G>V		No	ClinGen gnomAD
CA8107292 rs781172824	769	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8107291 rs781172824	769	G>W		No	ClinGen ExAC TOPMed gnomAD
CA396338455 rs1478403910	770	D>N		No	ClinGen TOPMed
rs762884236 CA8107295	771	L>P		No	ClinGen ExAC gnomAD
rs372545331 CA8107296	773	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs372545331 CA282338351	773	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	774	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396338492 rs1597368614	774	Y>F		No	ClinGen Ensembl
rs61740302 CA282338377	775	V>L		No	ClinGen TOPMed
CA396338496 rs61740302	775	V>M		No	ClinGen TOPMed
rs190492342 CA8107299	777	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	786	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766710566 CA8107302	787	M>I		No	ClinGen ExAC
rs761052191 CA8107301	787	M>V		No	ClinGen ExAC TOPMed gnomAD
rs754368770 CA8107303	788	Q>E		No	ClinGen ExAC gnomAD
rs1260957659 CA396338651	788	Q>R		No	ClinGen TOPMed
CA8107304 rs755495387	789	T>M		No	ClinGen ExAC TOPMed gnomAD
CA282338394 rs776340278	790	G>D		No	ClinGen Ensembl
rs1219525306 CA396338690	791	W>L		No	ClinGen gnomAD
rs545038054 CA8107306	792	N>S		No	ClinGen ExAC gnomAD
CA8107307 rs758508890	794	S>C		No	ClinGen ExAC TOPMed gnomAD
rs778159601 CA8107308	794	S>T		No	ClinGen ExAC gnomAD
rs1388188573 CA396338809	801	L>V		No	ClinGen gnomAD
CA282338413 rs923653070	802	A>P		No	ClinGen TOPMed gnomAD
CA396338817 rs923653070	802	A>T		No	ClinGen TOPMed gnomAD
CA396338823 rs1163584484	802	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779896928 CA8107311	803	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA396338843 rs1160732896	804	P>S		No	ClinGen TOPMed gnomAD
CA396338854 rs1388727364	805	P>A		No	ClinGen gnomAD
rs749244322 CA8107312	808	Q>E		No	ClinGen ExAC gnomAD
CA396338934 rs1320499407	811	I>V		No	ClinGen gnomAD
CA8107314 rs773896012	813	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1597368753 CA396338955	813	T>P		No	ClinGen Ensembl
CA396338997 rs202115455	816	P>A		No	ClinGen gnomAD
CA282338448 rs202115455	816	P>S		No	ClinGen gnomAD
rs772866456 CA8107317	818	H>L		No	ClinGen ExAC TOPMed gnomAD
rs760310759 CA8107318	818	H>Q		No	ClinGen ExAC gnomAD
rs772866456 CA282338467	818	H>R		No	ClinGen ExAC TOPMed gnomAD
rs376301186 COSM84348 CA8107323	820	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8107321 rs373074223	820	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs758562275 CA8107324	821	G>D		No	ClinGen ExAC TOPMed gnomAD
rs764200871 CA8107325	822	T>N		No	ClinGen ExAC gnomAD
CA8107328 rs55690921	823	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs757491167 CA8107327	823	E>V		No	ClinGen ExAC gnomAD
rs1202246794 CA396339106	825	P>A		No	ClinGen gnomAD
rs971595451 CA282338541	826	Q>*		No	ClinGen Ensembl
TCGA novel	826	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749082630 CA8107329	827	V>D		No	ClinGen ExAC gnomAD
rs1165714680 CA396339155	829	L>R		No	ClinGen TOPMed
CA396339161 rs754689710	830	H>P		No	ClinGen ExAC gnomAD
rs1442936718 CA396339172	830	H>Q		No	ClinGen TOPMed
CA8107330 rs754689710	830	H>R		No	ClinGen ExAC gnomAD
rs778844833 CA8107331	831	L>P		No	ClinGen ExAC gnomAD
rs1479190755 CA396339201	832	P>R		No	ClinGen TOPMed gnomAD
CA396339184 rs1446203410	832	P>T		No	ClinGen gnomAD
TCGA novel	833	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8107333 rs368076123	834	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs368076123 CA396339231	834	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs564480645 CA8107334	835	P>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	836	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8107335 rs746687269	836	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1252544237 CA396339297	837	S>C		No	ClinGen TOPMed
rs776106536 CA8107337	838	S>N		No	ClinGen ExAC gnomAD
CA282338593 rs867408319	840	A>T		No	ClinGen gnomAD
rs765635589 CA8107339	841	F>I		No	ClinGen ExAC
TCGA novel	841	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291801362 CA396339410	842	P>L		No	ClinGen TOPMed
TCGA novel	842	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199584921 CA8107341	843	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396339445 rs1179458536	844	S>C		No	ClinGen gnomAD
TCGA novel	844	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751640080 CA8107343	845	L>V		No	ClinGen ExAC
CA396339507 rs1478030201	846	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8107344 rs757464169	846	A>T		No	ClinGen ExAC gnomAD
CA8107345 rs372880688	848	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs866552511 CA282338642	849	G>D		No	ClinGen Ensembl
rs750563312 CA8107346	850	R>C		No	ClinGen ExAC gnomAD
rs750563312 CA396339564	850	R>G		No	ClinGen ExAC gnomAD
CA282338648 rs1040436622	850	R>H		No	ClinGen Ensembl
COSM1519546 rs754815769 CA8107347	852	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8107348 rs778613956	852	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748152238 CA8107349	853	S>T		No	ClinGen ExAC gnomAD
rs375616125 CA8107350	854	E>D		No	ClinGen ESP ExAC gnomAD
CA396339632 rs1409426242	854	E>K		No	ClinGen gnomAD
CA8107352 rs202002136	855	S>G		No	ClinGen ExAC TOPMed gnomAD
rs780907544 CA8107354	857	A>S		No	ClinGen ExAC gnomAD
CA396339711 rs780907544	857	A>T		No	ClinGen ExAC gnomAD
rs1597369060 CA396339736	858	D>A		No	ClinGen Ensembl
CA396339743 rs1342744158	858	D>E		No	ClinGen gnomAD
CA396339757 rs1597369068	859	L>P		No	ClinGen Ensembl
rs372000444 CA282338689	860	P>L		No	ClinGen ESP TOPMed
CA396339787 rs1482560433	861	Q>E		No	ClinGen TOPMed gnomAD
rs1202586455 CA396339791	861	Q>L		No	ClinGen gnomAD
TCGA novel	863	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8107357 rs770346781	863	Q>R		No	ClinGen ExAC gnomAD
CA396339891 rs1197505576	866	Q>H		No	ClinGen gnomAD
rs529471266 CA8107359	867	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs992168530 CA282338700	868	L>V		No	ClinGen TOPMed
CA396339931 rs1050514858	869	M>L		No	ClinGen TOPMed
rs1477315588 CA396339941	869	M>T		No	ClinGen gnomAD
CA282338713 rs1050514858	869	M>V		No	ClinGen TOPMed
CA282338714 rs917477438	870	G>C		No	ClinGen TOPMed
rs981732806 CA282338720	871	H>P		No	ClinGen TOPMed gnomAD
CA396340024 rs1213094114	874	H>R		No	ClinGen TOPMed gnomAD
CA8107361 rs774685138	875	T>I		No	ClinGen ExAC gnomAD
CA396340047 rs774685138	875	T>N		No	ClinGen ExAC gnomAD
rs903912889 CA282338736	877	L>F		No	ClinGen Ensembl
CA396340104 rs1365525024	878	S>G		No	ClinGen TOPMed
CA282338755 rs556887900	878	S>N		No	ClinGen Ensembl
CA396340131 rs1383797980	879	P>R		No	ClinGen Ensembl
TCGA novel	880	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8107364 rs750666129	882	A>T		No	ClinGen ExAC gnomAD
TCGA novel	882	A>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396340192 rs1269018258	883	T>A		No	ClinGen TOPMed
rs1322948420 CA396340203	883	T>I		No	ClinGen TOPMed gnomAD
CA396340190 rs1269018258	883	T>P		No	ClinGen TOPMed
rs1295710584 CA396340227	885	H>Y		No	ClinGen Ensembl
CA396340268 rs1489741192	886	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs760884880 CA8107365	886	W>R		No	ClinGen ExAC gnomAD
CA8107367 rs765063930	887	C>F		No	ClinGen ExAC gnomAD
CA396340278 rs1597369241	887	C>R		No	ClinGen Ensembl
rs1341210294 CA396340319	889	Q>*		No	ClinGen gnomAD
CA8107368 rs752455614	894	S>R		No	ClinGen ExAC gnomAD
CA282338800 rs1031095194	895	R>Q		No	ClinGen TOPMed gnomAD
CA8107370 rs777705471	895	R>W		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q14940

1 regional properties for Q14940

Type	Name	Position	InterPro Accession
domain	Cation/H+ exchanger	51 - 455	IPR006153

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Recycling endosome membrane ; Multi-pass membrane protein Cell projection, dendritic spine membrane ; Multi-pass membrane protein Synaptic cell membrane ; Multi-pass membrane protein Cell junction, focal adhesion	Cycles between recycling endosome and plasma membrane in response to diverse stimuli Its internalization is clathrin- and beta-arrestin dependent and its plasma membrane insertion from the recycling endosomes requires phosphoinositide 3-kinase (PIK3CA) and SCAMP2
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
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
potassium:proton antiporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(in) + H+(out) = K+(out) + H+(in).
sodium:proton antiporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out).

4 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.
potassium ion transmembrane transport	A process in which a potassium ion is transported from one side of a membrane to the other.
regulation of intracellular pH	Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion.
sodium ion import across plasma membrane	The directed movement of sodium ions from outside of a cell, across the plasma membrane and into the cytosol.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q28036	SLC9A1	Sodium/hydrogen exchanger 1	Bos taurus (Bovine)	PR
Q9UBY0	SLC9A2	Sodium/hydrogen exchanger 2	Homo sapiens (Human)	PR
P19634	SLC9A1	Sodium/hydrogen exchanger 1	Homo sapiens (Human)	PR
Q4G0N8	SLC9C1	Sodium/hydrogen exchanger 10	Homo sapiens (Human)	PR
Q61165	Slc9a1	Sodium/hydrogen exchanger 1	Mus musculus (Mouse)	PR
Q8BUE1	Slc9a4	Sodium/hydrogen exchanger 4	Mus musculus (Mouse)	PR
P48762	SLC9A1	Sodium/hydrogen exchanger 1	Sus scrofa (Pig)	PR
P26434	Slc9a4	Sodium/hydrogen exchanger 4	Rattus norvegicus (Rat)	PR
P48763	Slc9a2	Sodium/hydrogen exchanger 2	Rattus norvegicus (Rat)	PR
P26431	Slc9a1	Sodium/hydrogen exchanger 1	Rattus norvegicus (Rat)	PR
Q8T5S1	nhx-2	Na(+)/H(+) exchanger protein 2	Caenorhabditis elegans	PR
Q84WG1	NHX3	Sodium/hydrogen exchanger 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8S397	NHX4	Sodium/hydrogen exchanger 4	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MLRAALSLLA	LPLAGAAEEP	TQKPESPGEP	PPGLELFRWQ	WHEVEAPYLV	ALWILVASLA
70	80	90	100	110	120
KIVFHLSRKV	TSLVPESCLL	ILLGLVLGGI	VLAVAKKAEY	QLEPGTFFLF	LLPPIVLDSG
130	140	150	160	170	180
YFMPSRLFFD	NLGAILTYAV	VGTLWNAFTT	GAALWGLQQA	GLVAPRVQAG	LLDFLLFGSL
190	200	210	220	230	240
ISAVDPVAVL	AVFEEVHVNE	TLFIIVFGES	LLNDAVTVVL	YKVCNSFVEM	GSANVQATDY
250	260	270	280	290	300
LKGVASLFVV	SLGGAAVGLV	FAFLLALTTR	FTKRVRIIEP	LLVFLLAYAA	YLTAEMASLS
310	320	330	340	350	360
AILAVTMCGL	GCKKYVEANI	SHKSRTTVKY	TMKTLASCAE	TVIFMLLGIS	AVDSSKWAWD
370	380	390	400	410	420
SGLVLGTLIF	ILFFRALGVV	LQTWVLNQFR	LVPLDKIDQV	VMSYGGLRGA	VAFALVILLD
430	440	450	460	470	480
RTKVPAKDYF	VATTIVVVFF	TVIVQGLTIK	PLVKWLKVKR	SEHHKPTLNQ	ELHEHTFDHI
490	500	510	520	530	540
LAAVEDVVGH	HGYHYWRDRW	EQFDKKYLSQ	LLMRRSAYRI	RDQIWDVYYR	LNIRDAISFV
550	560	570	580	590	600
DQGGHVLSST	GLTLPSMPSR	NSVAETSVTN	LLRESGSGAC	LDLQVIDTVR	SGRDREDAVM
610	620	630	640	650	660
HHLLCGGLYK	PRRRYKASCS	RHFISEDAQE	RQDKEVFQQN	MKRRLESFKS	TKHNICFTKS
670	680	690	700	710	720
KPRPRKTGRR	KKDGVANAEA	TNGKHRGLGF	QDTAAVILTV	ESEEEEEESD	SSETEKEDDE
730	740	750	760	770	780
GIIFVARATS	EVLQEGKVSG	SLEVCPSPRI	IPPSPTCAEK	ELPWKSGQGD	LAVYVSSETT
790	800	810	820	830	840
KIVPVDMQTG	WNQSISSLES	LASPPCNQAP	ILTCLPPHPR	GTEEPQVPLH	LPSDPRSSFA
850	860	870	880	890
FPPSLAKAGR	SRSESSADLP	QQQELQPLMG	HKDHTHLSPG	TATSHWCIQF	NRGSRL