AiPD: Autoinhibited Protein Database

O95436

Gene name	SLC34A2
Protein name	Sodium-dependent phosphate transport protein 2B
Names	Sodium-phosphate transport protein 2B, Na(+)-dependent phosphate cotransporter 2B, NaPi3b, Sodium/phosphate cotransporter 2B, Na(+)/Pi cotransporter 2B, NaPi-2b, Solute carrier family 34 member 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10568
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-95 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-95 (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 O95436

Entry ID	Method	Resolution	Chain	Position	Source
AF-O95436-F1	Predicted				AlphaFoldDB

651 variants for O95436

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs796065044 RCV000190366	71	N>missing	PULMONARY ALVEOLAR MICROLITHIASIS [ClinVar]	Yes	ClinVar dbSNP
CA117703 rs137853141 RCV000006070	76	Q>*	PULMONARY ALVEOLAR MICROLITHIASIS [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA117705 CA2879413 rs137853142 VAR_030677 RCV000006071	106	G>R	PULMONARY ALVEOLAR MICROLITHIASIS PULAM [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001335422 CA2879749 rs150747522	415	T>S	PULMONARY ALVEOLAR MICROLITHIASIS [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000455319 rs6448389 VAR_030678 RCV001808831 RCV002056704 CA2879976	634	D>G	PULMONARY ALVEOLAR MICROLITHIASIS [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2879288 rs746078874	3	P>L		No	ClinGen ExAC gnomAD
rs1183280436 CA356564803	3	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1279336691 CA356564836	4	W>*		No	ClinGen gnomAD
CA93645924 rs374959802	5	P>L		No	ClinGen TOPMed
CA93645954 rs374362027	7	L>F		No	ClinGen TOPMed
rs1258669601 CA356564914	8	G>R		No	ClinGen TOPMed
CA2879298 rs774164744	9	D>H		No	ClinGen ExAC gnomAD
CA2879300 rs541244250	10	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs541244250 CA2879301	10	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA356564965 rs1577491241	11	Q>K		No	ClinGen Ensembl
CA356564988 rs1224743125	12	P>A		No	ClinGen gnomAD
rs1427705269 CA356565012	13	N>S		No	ClinGen gnomAD
rs760202996 CA2879303	14	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1190839863 CA356565029	14	P>S		No	ClinGen gnomAD
CA2879307 rs373409432	15	D>G		No	ClinGen ESP ExAC gnomAD
CA2879306 rs759231403 COSM290841	15	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs758725458 CA2879309	16	K>N		No	ClinGen ExAC gnomAD
rs1289974350 CA356565044	16	K>Q		No	ClinGen gnomAD
rs756307099 CA2879315	19	E>G		No	ClinGen ExAC TOPMed gnomAD
rs148983432 CA2879314	19	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA356565073 rs1313122273	20	G>R		No	ClinGen gnomAD
CA356565071 rs1313122273	20	G>W		No	ClinGen gnomAD
CA2879317 rs747909819	21	A>D		No	ClinGen ExAC gnomAD
CA2879316 rs780162354	21	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs138461251 CA356565082	22	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2879319 rs138461251	22	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA356565088 rs1176412754	23	G>C		No	ClinGen gnomAD
rs1203284366 CA356565089	23	G>D		No	ClinGen gnomAD
rs746937122 CA2879320	25	Q>*		No	ClinGen ExAC gnomAD
rs771029639 CA2879322	26	P>S		No	ClinGen ExAC TOPMed gnomAD
CA356565107 rs771029639	26	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2879323 rs776254543	33	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1362685495 CA356565161	34	E>K		No	ClinGen TOPMed gnomAD
CA356565172 rs1238534614	35	T>N		No	ClinGen TOPMed
rs1452307131 CA356565169	35	T>P		No	ClinGen gnomAD
CA2879325 rs764907223	36	N>S		No	ClinGen ExAC gnomAD
CA356565213 rs1346138984	39	D>A		No	ClinGen gnomAD
CA2879347 rs762187457	41	T>A		No	ClinGen ExAC gnomAD
CA356565239 rs1261064936	43	A>T		No	ClinGen gnomAD
rs148305209 CA2879349	44	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2879348 rs147129009	44	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000962070 rs35426730 CA2879350 VAR_034156	45	V>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2879351 rs766364198	46	T>S		No	ClinGen ExAC gnomAD
rs1219154333 CA356565260	47	K>E		No	ClinGen TOPMed
rs755130085 CA2879353	48	I>F		No	ClinGen ExAC TOPMed gnomAD
CA356565275 rs1480423478	49	E>*		No	ClinGen gnomAD
TCGA novel	49	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2879354 rs374467761	52	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA93646313 rs374467761	52	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410827889 CA356565301	53	S>F		No	ClinGen gnomAD
rs757126576 CA2879356	54	Y>C		No	ClinGen ExAC gnomAD
rs751356705 CA2879355	54	Y>H		No	ClinGen ExAC gnomAD
CA2879357 rs78068143	55	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs114109706 CA2879358	56	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2879359 rs769841286	59	L>M		No	ClinGen ExAC
rs779401709 CA2879360	61	D>G		No	ClinGen ExAC
rs753379731 CA2879361	62	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753379731 CA93646390	62	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA356565362 rs1401524182	64	T>A		No	ClinGen TOPMed
rs1313217429 CA356565367	64	T>I		No	ClinGen TOPMed
CA2879363 rs768251117	65	E>D		No	ClinGen ExAC gnomAD
rs1281245872 CA356565377	66	V>L		No	ClinGen gnomAD
rs1363830519 CA356565389	68	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1379103614 CA356565409	70	W>*		No	ClinGen TOPMed
CA93646432 rs889583762	71	N>D		No	ClinGen TOPMed
rs762105687 CA2879366	73	P>S		No	ClinGen ExAC gnomAD
rs762105687 CA356565424	73	P>T		No	ClinGen ExAC gnomAD
rs114098271 CA93646467	75	L>F		No	ClinGen 1000Genomes TOPMed
CA356565453 rs1230940212	77	D>E		No	ClinGen gnomAD
CA2879369 rs761055208	77	D>N		No	ClinGen ExAC gnomAD
CA356565459 rs1220925598	78	S>L		No	ClinGen TOPMed gnomAD
rs1476024843 CA356565462	79	G>E		No	ClinGen gnomAD
rs1025623272 CA93646494	79	G>R		No	ClinGen Ensembl
rs1041318430 CA93646495	80	I>M		No	ClinGen TOPMed gnomAD
CA2879371 rs753807891	80	I>N		No	ClinGen ExAC gnomAD
CA93646502 rs896896929	81	K>R		No	ClinGen TOPMed
CA356565477 rs1164406354	82	W>R		No	ClinGen gnomAD
TCGA novel	83	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460188501 CA356565778	85	R>G		No	ClinGen gnomAD
CA2879399 rs533106793	85	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA2879400 rs375619028	86	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA356565795 rs533378583	87	T>I		No	ClinGen gnomAD
CA93648231 rs533378583	87	T>S		No	ClinGen gnomAD
CA2879401 rs751290402	89	G>A		No	ClinGen ExAC gnomAD
rs1330412967 CA356565870	98	I>F		No	ClinGen gnomAD
rs369523420 CA2879408	99	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2879407 rs747267602	99	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2879409 rs776921422	100	R>I		No	ClinGen ExAC gnomAD
CA356565905 rs1335275175	103	L>F		No	ClinGen TOPMed
TCGA novel	103	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224638755 CA356565908	104	L>F		No	ClinGen gnomAD
rs1262952398 CA356565916	105	L>P		No	ClinGen gnomAD
rs946695348 CA356565945	110	F>L		No	ClinGen TOPMed gnomAD
rs946695348 CA93648315	110	F>V		No	ClinGen TOPMed gnomAD
rs78448446 CA93648337	112	V>L		No	ClinGen ExAC TOPMed gnomAD
rs78448446 CA2879416	112	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754887557 CA2879418	116	D>G		No	ClinGen ExAC gnomAD
CA356565991 rs1169286373	117	I>V		No	ClinGen TOPMed gnomAD
CA356565996 rs1560235960	118	L>I		No	ClinGen Ensembl
CA2879420 rs752159311	120	S>I		No	ClinGen ExAC gnomAD
CA2879422 rs565847214	121	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	121	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534759029 CA2879423	122	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1471220165 CA356566054	127	G>R		No	ClinGen TOPMed
CA356566083 rs1262207301	129	M>T		No	ClinGen gnomAD
rs1174686939 CA356566090	130	A>S		No	ClinGen TOPMed gnomAD
rs1288539231 CA356566096	131	G>E		No	ClinGen TOPMed
CA93650431 CA356566094 rs868708411	131	G>R		No	ClinGen gnomAD
CA356566099 rs1227597338	132	Q>K		No	ClinGen TOPMed
CA2879455 rs759265646	132	Q>L		No	ClinGen ExAC gnomAD
CA356566119 rs1276601969	134	F>C		No	ClinGen TOPMed
rs756035307 CA2879457	135	S>N		No	ClinGen ExAC TOPMed gnomAD
CA2879458 rs552509301	136	N>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	137	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA93650524 rs1045107363	137	S>R		No	ClinGen TOPMed gnomAD
rs1384719382 CA356566140	137	S>T		No	ClinGen gnomAD
rs761261552 CA2879461	140	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1313059606 CA356566198	146	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA93653158 rs115723691	146	G>V		No	ClinGen 1000Genomes
CA356566212 rs1577495314	148	V>G		No	ClinGen Ensembl
rs1454056410 CA356566210	148	V>L		No	ClinGen Ensembl
rs1241125360 CA356566218	149	I>T		No	ClinGen gnomAD
CA356566215 rs1577495324	149	I>V		No	ClinGen Ensembl
rs373310948 CA2879464 CA2879465	150	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA356566223 rs1245449652	150	G>V		No	ClinGen TOPMed
CA356566230 rs1577495338	151	V>G		No	ClinGen Ensembl
rs1429486561 CA356566225	151	V>M		No	ClinGen TOPMed gnomAD
CA2879466 rs754302028	153	V>M		No	ClinGen ExAC gnomAD
rs201866415 CA2879467	154	T>A		No	ClinGen ExAC TOPMed gnomAD
rs75684712 CA2879468	155	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA356566260 rs1314702409	157	V>L		No	ClinGen TOPMed
rs1420295743 CA356566268	158	Q>R		No	ClinGen TOPMed gnomAD
CA356566275 rs748188355	159	S>N		No	ClinGen ExAC TOPMed gnomAD
CA2879469 rs748188355	159	S>T		No	ClinGen ExAC TOPMed gnomAD
CA2879470 rs758417658	161	S>I		No	ClinGen ExAC gnomAD
TCGA novel	161	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2879471 rs777885336	164	T>A		No	ClinGen ExAC gnomAD
rs1179090320 CA356566308	164	T>K		No	ClinGen TOPMed gnomAD
CA16040530 rs1179090320	164	T>M		No	ClinGen TOPMed gnomAD
CA93653267 rs777885336	164	T>S		No	ClinGen ExAC gnomAD
CA356566310 rs1437422223	165	S>A		No	ClinGen TOPMed
rs1469509708 CA356566320	166	I>S		No	ClinGen gnomAD
CA2879476 rs768601894	167	V>A		No	ClinGen ExAC TOPMed gnomAD
rs768601894 CA356566324	167	V>D		No	ClinGen ExAC TOPMed gnomAD
rs745908881 CA2879475	167	V>I		No	ClinGen ExAC TOPMed gnomAD
CA356566328 rs1306369917	168	V>F		No	ClinGen TOPMed gnomAD
rs899899540 CA93653322	169	S>I		No	ClinGen TOPMed
rs774160853 CA2879477	170	M>V		No	ClinGen ExAC TOPMed gnomAD
rs761328962 CA2879478	171	V>E		No	ClinGen ExAC gnomAD
rs1450851553 CA356566349	171	V>L		No	ClinGen TOPMed
rs1323934956 CA356566354	172	S>A		No	ClinGen gnomAD
rs1202661099 CA356566357	172	S>F		No	ClinGen TOPMed gnomAD
rs1202661099 CA356566355	172	S>Y		No	ClinGen TOPMed gnomAD
TCGA novel	173	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	175	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA93654703 rs943020177	176	L>V		No	ClinGen gnomAD
CA2879496 rs748033823	177	T>A		No	ClinGen ExAC TOPMed gnomAD
rs772182600 CA2879497	177	T>I		No	ClinGen ExAC
rs1039280160 CA93654725	178	V>I		No	ClinGen Ensembl
CA2879498 rs552759498	179	R>G		No	ClinGen ExAC TOPMed gnomAD
rs760292711 CA2879500	179	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2879499 rs760292711	179	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1226285 CA93654761 rs552759498	179	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA93654790 rs994395982	181	A>S		No	ClinGen TOPMed gnomAD
CA356566409 rs994395982	181	A>T		No	ClinGen TOPMed gnomAD
CA2879502 rs759287315	182	I>L		No	ClinGen ExAC TOPMed gnomAD
CA356566417 rs1429372987	182	I>S		No	ClinGen gnomAD
CA93654804 rs759287315	182	I>V		No	ClinGen ExAC TOPMed gnomAD
CA356566420 rs1388417758	183	P>A		No	ClinGen gnomAD
rs765511454 CA2879503	184	I>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	184	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2879504 rs765511454	184	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2879506 rs560000806	185	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA93654843 rs865994371	186	M>I		No	ClinGen Ensembl
rs139909093 CA356566440	186	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs139909093 CA2879507	186	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2879508 rs757338289	188	A>T		No	ClinGen ExAC gnomAD
CA2879509 rs781418181	189	N>D		No	ClinGen ExAC gnomAD
CA356566464 rs750598263	190	I>N		No	ClinGen ExAC TOPMed gnomAD
CA2879510 rs750598263	190	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2879512 rs778542996	191	G>E		No	ClinGen ExAC gnomAD
rs773901723 CA93654882	192	T>A		No	ClinGen TOPMed
CA2879513 rs747996136	192	T>M		No	ClinGen ExAC TOPMed gnomAD
CA356566483 rs1244217722	194	I>V		No	ClinGen gnomAD
CA356566499 rs1279995565	196	N>S		No	ClinGen TOPMed gnomAD
rs1560237944 CA356566509	198	I>V		No	ClinGen Ensembl
rs746461033 CA2879516	199	V>L		No	ClinGen ExAC gnomAD
TCGA novel	200	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292376724 CA356566521	200	A>T		No	ClinGen TOPMed
CA2879517 rs770547360	200	A>V		No	ClinGen ExAC TOPMed gnomAD
rs992817594 CA93654941	201	L>F		No	ClinGen TOPMed
CA356566539 rs1394661992	202	M>I		No	ClinGen TOPMed
CA2879520 rs769533615	204	V>A		No	ClinGen ExAC gnomAD
rs763342540 CA356566568	207	R>P		No	ClinGen ExAC TOPMed gnomAD
rs763342540 CA2879522	207	R>Q	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2879521 rs775671016	207	R>W		No	ClinGen ExAC gnomAD
CA356566574 rs1431110029	208	S>T		No	ClinGen gnomAD
rs566170283 CA356566633	214	F>L		No	ClinGen TOPMed
CA2879542 rs774765778	216	G>E		No	ClinGen ExAC gnomAD
CA93656759 rs528548762	217	A>D		No	ClinGen ExAC gnomAD
rs528548762 CA2879544	217	A>G		No	ClinGen ExAC gnomAD
CA93656757 rs1017010569	217	A>P		No	ClinGen TOPMed
CA356566654 rs1364840975	219	V>I		No	ClinGen gnomAD
rs1470096048 CA356566665	220	H>P		No	ClinGen TOPMed gnomAD
CA93656766 rs201431617	221	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs754095460 CA356566719	228	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754095460 CA2879548	228	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2879549 rs755318649	229	L>S		No	ClinGen ExAC TOPMed gnomAD
CA356566731 rs957622809 CA93656821	230	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA2879554 rs148403466	234	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2879553 rs148403466	234	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1577498860 CA356566775	236	V>G		No	ClinGen Ensembl
CA356566769 rs1489202319	236	V>L		No	ClinGen TOPMed
rs1354569469 CA356566785	237	A>V		No	ClinGen gnomAD
CA2879555 rs755663472	238	T>I		No	ClinGen ExAC TOPMed gnomAD
CA356566800 rs1215959671	239	H>P		No	ClinGen TOPMed
TCGA novel	239	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748938980 CA2879557	240	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2879556 rs779601225	240	Y>D		No	ClinGen ExAC gnomAD
CA356566829 rs77356826	242	E>*		No	ClinGen gnomAD
CA93656875 rs77356826	242	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2879559 rs771345195	244	I>L		No	ClinGen ExAC TOPMed gnomAD
CA2879560 rs748540626	244	I>T		No	ClinGen ExAC gnomAD
rs955065752 CA93656888	245	T>P		No	ClinGen Ensembl
rs773779289 CA2879562	246	Q>H		No	ClinGen ExAC gnomAD
CA356566888 rs1249616108	247	L>P		No	ClinGen gnomAD
CA2879564 rs766475578	248	I>T		No	ClinGen ExAC gnomAD
CA2879563 rs761139382	248	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2879565 rs776889430	249	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1334997978 CA356566909	250	E>K		No	ClinGen gnomAD
CA2879567 rs372932392	251	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA356566927 rs1398829947	251	S>I		No	ClinGen TOPMed
TCGA novel	253	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA93656917 rs755505609	255	K>N		No	ClinGen Ensembl
COSM1567358 CA356567002 rs751362507	257	G>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs914989881 CA93656929	257	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2879568 rs751362507	257	G>R		No	ClinGen ExAC gnomAD
CA356567018 rs1305633157	258	E>D		No	ClinGen TOPMed gnomAD
CA356567025 rs1368069917	259	D>Y		No	ClinGen gnomAD
rs757080528 CA2879569	260	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1329663398 CA356567050	261	P>Q		No	ClinGen gnomAD
CA2879570 rs767301588	261	P>S		No	ClinGen ExAC gnomAD
rs1433172731 CA356567061	262	D>G		No	ClinGen gnomAD
CA356567063 rs1433172731	262	D>V		No	ClinGen gnomAD
TCGA novel	262	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1270926255 CA356567073	263	L>H		No	ClinGen gnomAD
TCGA novel	264	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2879573 rs779511287	265	K>T		No	ClinGen ExAC gnomAD
CA2879574 rs748849027	268	T>N		No	ClinGen ExAC gnomAD
CA2879576 rs778538325	270	P>L		No	ClinGen ExAC TOPMed gnomAD
rs754578808 CA2879575	270	P>S		No	ClinGen ExAC gnomAD
TCGA novel	274	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375836606 CA2879578	274	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248328642 CA356567194	275	I>L		No	ClinGen gnomAD
CA356567350 rs1388316871	280	K>*		No	ClinGen gnomAD
rs982150295 CA93657774	280	K>I		No	ClinGen TOPMed gnomAD
rs982150295 CA356567353	280	K>T		No	ClinGen TOPMed gnomAD
RCV000968936 rs79937695 CA2879600	281	K>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2879601 rs747355268	281	K>R		No	ClinGen ExAC gnomAD
CA356567368 rs1403002865	282	V>A		No	ClinGen gnomAD
rs1223366439 CA356567365	282	V>I		No	ClinGen TOPMed
rs758895971 CA93657805	287	A>S		No	ClinGen TOPMed gnomAD
rs771522281 CA2879602	288	M>T		No	ClinGen ExAC gnomAD
CA93657836 rs150930496	289	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs140631105 CA2879604	289	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2879605 rs769981964	290	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769981964 CA2879606	290	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1402547020 CA356567426	291	E>Q		No	ClinGen TOPMed
rs372023023 CA2879607	293	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	295	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	295	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	295	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1577499883 CA356567462	296	K>E		No	ClinGen Ensembl
CA356567465 rs1483366865	296	K>R		No	ClinGen TOPMed gnomAD
rs531268967 CA2879609	297	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421434088 CA356567482	299	V>I		No	ClinGen gnomAD
TCGA novel	300	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2879610 rs760496504	300	K>Q		No	ClinGen ExAC gnomAD
CA2879612 rs753759730	301	I>M		No	ClinGen ExAC gnomAD
CA2879611 rs766244885	301	I>N		No	ClinGen ExAC gnomAD
CA356567497 rs766244885	301	I>T		No	ClinGen ExAC gnomAD
CA93657917 rs968407909	301	I>V		No	ClinGen Ensembl
rs1428504117 CA356567505	302	W>C		No	ClinGen TOPMed
rs375862993 CA2879613	302	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA356567517 rs1197446411	304	K>*		No	ClinGen TOPMed
rs1378483202 CA356567538	307	T>P		No	ClinGen gnomAD
CA356567548 CA2879615 rs752197307	308	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2879614 rs764692447	308	N>S		No	ClinGen ExAC gnomAD
CA2879616 rs758019128	309	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1418396668 CA356567571	310	T>S		No	ClinGen TOPMed
RCV000964959 CA2879640 rs112461275	312	I>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371683311 CA93658783	314	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs780459503 CA2879642	315	T>I		No	ClinGen ExAC TOPMed gnomAD
CA356567605 rs749325501	316	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2879643 rs749325501	316	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	318	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356567621 rs1239009061	318	S>W		No	ClinGen TOPMed
CA2879645 rs74775366	322	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA356567659 rs1406242794	324	S>F		No	ClinGen TOPMed
CA2879648 rs142510757	325	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745693733 CA2879649	328	C>S		No	ClinGen ExAC gnomAD
CA2879650 rs79450009	330	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2879651 rs79450009	330	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2879653 rs763509268	331	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA356567705 rs1296266971	332	G>S		No	ClinGen gnomAD
CA356567765 rs1362335015	339	K>N		No	ClinGen gnomAD
rs200560714 CA2879654	340	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356567773 rs1321628742	341	V>M		No	ClinGen gnomAD
rs1560240149 CA356567783	342	T>I		No	ClinGen Ensembl
rs149375438 CA2879656	342	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1014669572 CA93658869	343	Y>*		No	ClinGen TOPMed
CA356567789 rs1262834719	343	Y>F		No	ClinGen gnomAD
CA2879657 rs750781565	344	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1268215258 CA356567798	345	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs756443417 CA2879658	347	I>M		No	ClinGen ExAC TOPMed gnomAD
CA356567819 rs1296496065	347	I>S		No	ClinGen TOPMed gnomAD
CA356567818 rs1296496065	347	I>T		No	ClinGen TOPMed gnomAD
rs995352868 COSM1054676 CA356567821	348	A>S	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA93658898 rs995352868	348	A>T		No	ClinGen TOPMed gnomAD
CA356567826 rs1182511455	349	K>E		No	ClinGen gnomAD
CA2879676 rs377419850	351	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs148080437 CA2879677	353	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs759907304 CA2879678	355	V>A		No	ClinGen ExAC gnomAD
rs1488051982 CA356568181	357	F>L		No	ClinGen TOPMed
CA2879682 rs138755203	360	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2879683 rs138755203	360	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758484073 CA2879681	360	P>S		No	ClinGen ExAC gnomAD
TCGA novel	363	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356568336 rs1181236105	366	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	367	I>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356568342 rs768442620	367	I>L		No	ClinGen ExAC TOPMed gnomAD
rs768442620 CA2879687	367	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1218828502 CA356568378	369	L>I		No	ClinGen TOPMed
CA356568399 rs1423857252	370	I>K		No	ClinGen gnomAD
rs1423857252 CA356568401	370	I>T		No	ClinGen gnomAD
rs915538683 CA93660276	370	I>V		No	ClinGen TOPMed gnomAD
CA356568444 rs1453645256	375	V>L		No	ClinGen gnomAD
CA356568449 rs1169918983	376	L>I		No	ClinGen gnomAD
rs1371773112 CA356568454	376	L>P		No	ClinGen gnomAD
rs1173859771 CA356568467	378	G>A		No	ClinGen gnomAD
TCGA novel	381	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356568489 rs1306601216	382	M>V		No	ClinGen gnomAD
CA2879690 rs771701778	383	I>T		No	ClinGen ExAC gnomAD
CA356568519 rs1274419196	386	I>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA93660313 rs868371878	389	S>F		No	ClinGen Ensembl
CA2879691 rs772886127	390	V>A		No	ClinGen ExAC gnomAD
rs760218005 CA2879692	391	L>F		No	ClinGen ExAC TOPMed gnomAD
rs770634792 CA2879693	392	K>*		No	ClinGen ExAC gnomAD
rs1451015654 CA356568557	392	K>N		No	ClinGen TOPMed
CA356568554 rs1319054788	392	K>R		No	ClinGen TOPMed
rs1204290211 CA356568560	393	G>W		No	ClinGen gnomAD
CA356568565 rs1360348032	394	Q>E		No	ClinGen TOPMed
CA356568572 rs1176382844	395	V>I		No	ClinGen TOPMed
rs560657112 CA2879696	396	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA2879697 rs765673564	398	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1577502425 COSM587045 CA356568645	402	T>N	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs141905062 COSM1291897 CA2879698	403	I>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs767634415 CA2879743	406	D>E		No	ClinGen ExAC gnomAD
rs1304696561 CA356568853	406	D>G		No	ClinGen gnomAD
rs764129224 CA2879700	406	D>N		No	ClinGen ExAC TOPMed gnomAD
CA356568998 rs1577503654	412	A>S		No	ClinGen Ensembl
CA356569006 rs1353482968	412	A>V		No	ClinGen gnomAD
rs766735856 COSM1694221 CA2879747	413	W>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA93661637 rs112928137	413	W>R		No	ClinGen Ensembl
rs76404281 RCV000971876 CA2879748 CA356569057	414	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA356569078 rs763851809	416	G>C		No	ClinGen ExAC TOPMed gnomAD
rs763851809 CA2879750	416	G>S		No	ClinGen ExAC TOPMed gnomAD
rs757181024 CA2879752	417	Y>*		No	ClinGen ExAC gnomAD
rs1577503702 CA356569099	417	Y>S		No	ClinGen Ensembl
rs780731923 CA2879753	418	L>M		No	ClinGen ExAC TOPMed gnomAD
CA356569118 rs780731923	418	L>V		No	ClinGen ExAC TOPMed gnomAD
CA356569151 rs1251501328	419	A>D		No	ClinGen gnomAD
CA356569141 COSM1186543 rs1183400797	419	A>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA356569161 rs1212536813	420	I>L		No	ClinGen TOPMed
CA2879755 rs755725918	421	L>H		No	ClinGen ExAC TOPMed gnomAD
CA2879756 rs755725918	421	L>P		No	ClinGen ExAC TOPMed gnomAD
rs116219115 CA2879758	422	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA93661698 CA2879760 rs769110830	423	G>R		No	ClinGen ExAC TOPMed gnomAD
CA356569255 rs1328096499	424	A>V		No	ClinGen gnomAD
rs1308433103 CA356569265	425	G>S		No	ClinGen gnomAD
rs773301208 CA2879762	426	M>I		No	ClinGen ExAC gnomAD
rs978269433 CA93661753	427	T>A		No	ClinGen Ensembl
rs776977311 CA2879765	428	F>C		No	ClinGen ExAC gnomAD
TCGA novel	428	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771219442 CA2879764 COSM447749	428	F>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC
rs1331309166 CA356570061	429	I>V		No	ClinGen gnomAD
CA2879767 rs201539404	430	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356570102 rs1292179461	432	S>N		No	ClinGen gnomAD
CA2879768 rs751360382	432	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2879769 rs761761874	433	S>N		No	ClinGen ExAC gnomAD
CA2879770 rs767387893	436	F>C		No	ClinGen ExAC gnomAD
TCGA novel	437	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2879771 rs749870943	437	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356570164 rs749870943	437	T>R		No	ClinGen ExAC TOPMed gnomAD
rs200073812 CA2879773	438	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA356570192 rs1192196621	441	T>N		No	ClinGen TOPMed
rs1577503836 CA356570186	441	T>P		No	ClinGen Ensembl
CA2879779 rs772561415	442	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778435287 CA356570209	443	L>M		No	ClinGen ExAC
rs778435287 CA2879782	443	L>V		No	ClinGen ExAC
rs1167220392 CA356570291	445	G>A		No	ClinGen TOPMed gnomAD
rs200795814 CA2879804	446	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1259023473 CA356570329	447	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA93662070 rs866816525	447	G>S		No	ClinGen TOPMed gnomAD
rs76854178 CA93662096	448	V>L		No	ClinGen ExAC TOPMed gnomAD
rs76854178 CA2879807	448	V>M	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1270314548 CA356570407	451	I>F		No	ClinGen gnomAD
rs771851891 CA2879810	457	L>F		No	ClinGen ExAC TOPMed gnomAD
CA93662120 rs771851891	457	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2879811 rs200499595	458	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356570583 rs760586486	458	T>K		No	ClinGen ExAC TOPMed gnomAD
rs760586486 CA2879812	458	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1349186972 CA356570599	459	L>V		No	ClinGen TOPMed gnomAD
CA2879815 rs758978788	461	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1413783999 CA356570671	462	N>K		No	ClinGen gnomAD
CA356570682 rs1457416500	463	I>F		No	ClinGen gnomAD
rs115151720 CA2879817	464	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs115151720 CA2879816	464	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1355369590 CA356570728	465	T>I		No	ClinGen TOPMed gnomAD
rs199692975 CA93662183	467	T>P		No	ClinGen Ensembl
rs201392996 CA2879822	469	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM1742641 CA2879827 rs377112763	473	A>T	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1258211926 CA356570877	473	A>V		No	ClinGen gnomAD
CA93662271 rs982148536	475	A>S		No	ClinGen Ensembl
rs772947084 CA2879829	476	S>N		No	ClinGen ExAC gnomAD
CA2879832 rs369254101	483	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2879834 rs375377923	485	L>F		No	ClinGen ESP ExAC
rs867296079	487	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2879861 rs767745165	487	I>V		No	ClinGen ExAC gnomAD
TCGA novel	488	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410822906 CA356571005	488	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750852077 CA2879862	489	L>P		No	ClinGen ExAC gnomAD
rs1206153018 CA356571012	489	L>V		No	ClinGen TOPMed
rs761041179 CA2879863	490	C>*		No	ClinGen ExAC
CA2879864 rs371691747	492	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1475358288 CA356571044	493	F>L		No	ClinGen gnomAD
rs1374202786 CA356571039	493	F>V		No	ClinGen gnomAD
rs867302694 CA93663602	498	G>D		No	ClinGen Ensembl
CA356571074 rs1022453751	498	G>R		No	ClinGen TOPMed gnomAD
rs1022453751 CA93663569	498	G>S		No	ClinGen TOPMed gnomAD
CA356571084 rs1313344843	499	I>M		No	ClinGen TOPMed
rs1392536681 CA356571080	499	I>V		No	ClinGen gnomAD
CA356571096 rs1321264988	501	L>R		No	ClinGen gnomAD
rs752882870 CA2879868	502	W>*		No	ClinGen ExAC TOPMed gnomAD
rs780800769 CA2879870	504	P>R		No	ClinGen ExAC gnomAD
rs758667043 CA2879869	504	P>S		No	ClinGen ExAC gnomAD
rs200297029 CA93663662	505	I>T		No	ClinGen Ensembl
CA356571126 rs769551404	506	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2879872 rs769551404	506	P>R		No	ClinGen ExAC TOPMed gnomAD
rs866234217 CA93663681	506	P>S		No	ClinGen Ensembl
CA93663700 rs967754975	508	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	508	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1577505495 CA356571135	508	T>P		No	ClinGen Ensembl
rs34751784 CA93663702	509	R>C		No	ClinGen gnomAD
rs34751784 CA356571141	509	R>G		No	ClinGen gnomAD
CA356571157 rs1422630929	512	I>V		No	ClinGen TOPMed
rs147732740 CA2879876	513	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2879875 RCV000909241 rs147732740	513	R>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2879877 rs115874588 COSM447750	513	R>H	Variant assessed as Somatic; 4.621e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs960372872 CA356571167	514	M>L		No	ClinGen gnomAD
rs960372872 CA93663717	514	M>V		No	ClinGen gnomAD
TCGA novel	515	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356571194 rs565728265	518	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1458981472 CA356571197	518	L>P		No	ClinGen gnomAD
CA2879880 rs773412999	519	G>V		No	ClinGen ExAC gnomAD
rs201181333 CA93663737	523	A>T		No	ClinGen gnomAD
CA356571248 rs1415224624	526	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2879883 rs115131445	526	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1292418842 CA356571258	527	W>C		No	ClinGen gnomAD
rs760073369 CA356571267	528	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2879885 rs372824816	529	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752794996 CA2879886	530	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA93663804 rs868535475	531	F>V		No	ClinGen Ensembl
CA356571298 rs764381388	532	Y>*		No	ClinGen ExAC gnomAD
CA2879888 rs758507678	532	Y>S		No	ClinGen ExAC
CA356571317 rs1319890768	534	I>F		No	ClinGen TOPMed
rs1227346120 COSM733650 CA356571346	536	F>I	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA356571384 rs1258935311	538	F>I		No	ClinGen gnomAD
rs1258935311 CA356571388	538	F>L		No	ClinGen gnomAD
CA356571454 rs779781092	541	P>L		No	ClinGen ExAC gnomAD
CA2879893 rs779781092	541	P>R		No	ClinGen ExAC gnomAD
rs778521171 CA2879896	543	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2879897 rs747696561 COSM1226284	543	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs771562085 CA2879898	544	V>A		No	ClinGen ExAC TOPMed gnomAD
CA356571493 rs771562085	544	V>E		No	ClinGen ExAC TOPMed gnomAD
CA2879899 rs377166831	545	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368834147 CA2879900	547	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs771292841 CA2879901	548	S>L		No	ClinGen ExAC gnomAD
TCGA novel	550	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs115500754 CA2879903	553	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2879905 rs775481758	553	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs115500754 COSM733649 CA93663914	553	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA356571678 rs1577505745	554	V>G		No	ClinGen Ensembl
rs1236301699 CA356571671	554	V>L		No	ClinGen gnomAD
rs1236301699 CA356571668	554	V>M		No	ClinGen gnomAD
rs891098704 CA356571682	555	L>V		No	ClinGen gnomAD
rs1378920926 CA356571703	556	V>F		No	ClinGen TOPMed
rs763108345 CA2879906	557	G>R		No	ClinGen ExAC gnomAD
rs142545132 CA93663961	558	V>A		No	ClinGen ESP TOPMed
rs1278633292 CA356571753	559	G>R		No	ClinGen gnomAD
rs964288475 CA93663969	560	V>G		No	ClinGen Ensembl
TCGA novel	561	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	562	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	563	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1417525170 CA356571835	563	V>D		No	ClinGen gnomAD
CA356571830 rs766256521	563	V>F		No	ClinGen ExAC gnomAD
CA2879910 COSM3133349 rs766256521	563	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs753711680 CA356571863	564	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1388696450 CA356571889	566	I>V		No	ClinGen gnomAD
CA356571924 rs1560243447	567	I>M		No	ClinGen Ensembl
rs1240865106 CA356571922	567	I>N		No	ClinGen TOPMed
CA2879912 rs754928705	569	V>I		No	ClinGen ExAC TOPMed gnomAD
CA356571973 rs1172865461	571	C>G		No	ClinGen gnomAD
CA356571984 rs1373554521	572	L>F		No	ClinGen gnomAD
rs144863385 CA2879915	572	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs144863385 CA356571992	572	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2879916 rs777185101	573	R>Q		No	ClinGen ExAC gnomAD
CA356572013 rs1389272646	574	L>F		No	ClinGen gnomAD
CA356572052 rs1203130119	576	Q>R		No	ClinGen Ensembl
CA2879920 rs538449848	578	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA93664033 rs538449848	578	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2879922 rs775964069	579	C>R		No	ClinGen ExAC TOPMed gnomAD
CA356572415 rs763437727	580	P>S		No	ClinGen ExAC TOPMed gnomAD
rs763437727 CA2879923	580	P>T		No	ClinGen ExAC TOPMed gnomAD
CA356572423 rs1577505943	581	R>C		No	ClinGen Ensembl
CA2879925 COSM1054678 rs774345090	581	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA356572437 rs140514938	582	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2879929 rs140514938	582	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs765186413 CA2879930	583	L>Q		No	ClinGen ExAC gnomAD
COSM1429272 CA2879932 rs758313049	584	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2879931 rs61740663	584	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	585	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264773283 CA356572482	586	K>*		No	ClinGen TOPMed
CA356572499 rs1170905735	587	L>H		No	ClinGen gnomAD
CA356572495 rs1412219986	587	L>V		No	ClinGen TOPMed gnomAD
rs1022087472 CA93664165	594	P>A		No	ClinGen TOPMed gnomAD
rs1327576349 CA356572592	594	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA356572594 rs1327576349	594	P>R		No	ClinGen TOPMed gnomAD
rs1022087472 CA356572588	594	P>S		No	ClinGen TOPMed gnomAD
CA2879934 rs138158613	595	L>P		No	ClinGen ESP ExAC gnomAD
rs1323270465 CA356572631	597	M>I		No	ClinGen gnomAD
COSM292460 rs756835851 CA2879935	598	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs780836430 CA2879936	598	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356572642 rs780836430	598	R>P		No	ClinGen ExAC TOPMed gnomAD
rs756835851 CA356572635	598	R>S		No	ClinGen ExAC gnomAD
rs116358149 TCGA novel CA93664188	599	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA
CA2879937 rs116358149	599	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs116358149 CA356572651	599	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770112348 CA356572655	600	L>V		No	ClinGen ExAC TOPMed gnomAD
rs903704817 CA93664206	601	K>Q		No	ClinGen Ensembl
rs1274106130 CA356572671	601	K>R		No	ClinGen gnomAD
CA93664212 rs1001924803	602	P>S		No	ClinGen Ensembl
CA2879939 rs780348999	603	W>*		No	ClinGen ExAC gnomAD
rs75359384 CA93664218	603	W>G		No	ClinGen Ensembl
rs749787280 CA2879940	604	D>G		No	ClinGen ExAC gnomAD
rs369547850 CA2879941 COSM1054680	606	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2879943 rs761826151	607	V>A		No	ClinGen ExAC gnomAD
rs199853390 COSM1739047 CA356572728	607	V>I	haematopoietic_and_lymphoid_tissue Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs199853390 CA93664277	607	V>L		No	ClinGen gnomAD
rs772368155 CA2879944	609	K>E		No	ClinGen ExAC gnomAD
rs116673562 CA2879945	609	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761049513 CA2879946	610	F>L		No	ClinGen ExAC gnomAD
CA2879949 rs765114627	612	G>C		No	ClinGen ExAC gnomAD
CA2879948 rs765114627	612	G>R		No	ClinGen ExAC gnomAD
CA2879947 rs765114627	612	G>S		No	ClinGen ExAC gnomAD
CA93664345 rs556551664	613	C>Y		No	ClinGen gnomAD
CA356572781 rs1360474771	615	Q>H		No	ClinGen TOPMed gnomAD
CA356572786 rs1464270773	616	M>K		No	ClinGen TOPMed
CA2879951 rs374543043 COSM1226287	617	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
rs1417065596 CA356572793	617	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2879953 rs763970739	618	C>F		No	ClinGen ExAC gnomAD
TCGA novel	618	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356572799 rs763970739	618	C>Y		No	ClinGen ExAC gnomAD
CA93664371 rs991877151	620	C>Y		No	ClinGen TOPMed gnomAD
CA93664399 rs1016252352	622	C>*		No	ClinGen Ensembl
rs1317664145 CA356572835	623	R>C		No	ClinGen gnomAD
rs1215136729 CA356572836	623	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356572840 rs1560243859	624	V>A		No	ClinGen Ensembl
CA2879958 CA2879959 rs372833249	624	V>L		No	ClinGen ESP ExAC gnomAD
rs372833249 CA2879960	624	V>M		No	ClinGen ESP ExAC gnomAD
rs780406724 CA2879965	626	C>G		No	ClinGen ExAC gnomAD
rs780406724 CA356572850	626	C>S		No	ClinGen ExAC gnomAD
CA2879966 rs749617387	626	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs377357118 CA2879967	627	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377357118 CA93664442	627	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA93664445 rs974734046	627	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2879969 rs748709275	628	A>T		No	ClinGen ExAC gnomAD
rs932836843 CA93664470 COSM447752	628	A>V	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs77129821 CA2879974	630	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1343993902 CA356572882	631	L>W		No	ClinGen gnomAD
CA356572895 rs1477308873	633	C>Y		No	ClinGen gnomAD
rs6448389 CA356572902	634	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs6448389 CA356572901	634	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774124314 CA2879978	635	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1374299739 CA356572913	636	P>S		No	ClinGen gnomAD
rs766999791 CA356572943	640	R>C		No	ClinGen ExAC TOPMed
rs766999791 CA2879981	640	R>G		No	ClinGen ExAC TOPMed
rs374537882 CA2879982 COSM270169	640	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA356572942 rs766999791	640	R>S		No	ClinGen ExAC TOPMed
CA356572947 rs1351450858	641	C>R		No	ClinGen TOPMed gnomAD
rs755695232 CA2879983	644	C>G		No	ClinGen ExAC gnomAD
CA2879984 rs765975386	644	C>Y		No	ClinGen ExAC gnomAD
rs1239027168 CA356572982	645	C>*		No	ClinGen TOPMed
CA356572977 rs1459216491	645	C>R		No	ClinGen TOPMed
CA2879985 COSM1429274 rs754178434	646	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2879986 rs755271436	648	L>F		No	ClinGen ExAC gnomAD
rs1010061802 CA93664555	650	E>K		No	ClinGen TOPMed
rs548315834 CA2879987	651	A>G		No	ClinGen ExAC gnomAD
rs548315834 CA2879988	651	A>V		No	ClinGen ExAC gnomAD
CA356573026 rs1292174866	652	Q>*		No	ClinGen TOPMed
CA2879992 rs747118884	652	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA2879991 rs747118884	652	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs866758031 CA93664625	653	E>G		No	ClinGen Ensembl
rs1560244077 CA356573031	653	E>Q		No	ClinGen Ensembl
CA2879993 rs776696165	655	Q>*		No	ClinGen ExAC gnomAD
CA2879994 rs776696165	655	Q>E		No	ClinGen ExAC gnomAD
rs768332363 CA2879995	655	Q>R		No	ClinGen ExAC
rs761679756 CA2879997	656	D>G		No	ClinGen ExAC gnomAD
CA2879996 rs779048099	656	D>N		No	ClinGen ExAC gnomAD
rs1577506439 CA356573057	657	V>G		No	ClinGen Ensembl
rs772666393 CA2879999	658	P>H		No	ClinGen ExAC gnomAD
rs760197776 CA93664661	661	A>G		No	ClinGen ExAC TOPMed gnomAD
rs945288110 CA93664652	661	A>S		No	ClinGen Ensembl
CA2880000 rs760197776	661	A>V		No	ClinGen ExAC TOPMed gnomAD
rs867649889 CA93664667	662	P>S		No	ClinGen Ensembl
CA356573087 rs1242781682	663	E>K		No	ClinGen TOPMed
TCGA novel	664	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356573115 rs1378570238	666	D>E		No	ClinGen TOPMed
rs376344748 CA2880001	668	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1560244146 CA356573141	670	I>T		No	ClinGen Ensembl
CA356573139 rs1373201943	670	I>V		No	ClinGen TOPMed gnomAD
CA93664676 rs201145885	671	S>I		No	ClinGen 1000Genomes
CA356573154 rs1484381895	672	R>T		No	ClinGen Ensembl
CA356573162 rs1304146549	673	E>G		No	ClinGen gnomAD
CA2880003 rs754721602	674	A>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	674	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2880004 rs765465820	677	E>V		No	ClinGen ExAC gnomAD
rs753118743 CA2880005	678	V>A		No	ClinGen ExAC gnomAD
rs1324991208 CA356573213	681	S>W		No	ClinGen TOPMed
CA2880007 rs778449544	682	D>G		No	ClinGen ExAC gnomAD
CA93664704 rs865848979	682	D>N		No	ClinGen TOPMed gnomAD
rs865848979 CA356573216	682	D>Y		No	ClinGen TOPMed gnomAD
rs747570357 CA2880008	686	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2880009 rs138734284	687	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs746063666 CA356573274	691	L>K		No	ClinGen ExAC gnomAD
CA2880012 rs746063666	691	L>Q		No	ClinGen ExAC gnomAD

2 associated diseases with O95436

[MIM: 265100]: Pulmonary alveolar microlithiasis (PULAM)

Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long-term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance. {ECO:0000269|PubMed:16960801}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long-term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance. {ECO:0000269|PubMed:16960801}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for O95436

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O95436

Functions

		Description
EC Number
Subcellular Localization	Apical cell membrane ; Multi-pass membrane protein	Localized at the brush border membranes of enterocytes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
brush border	The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.
brush border membrane	The portion of the plasma membrane surrounding the brush border.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
vesicle	Any small, fluid-filled, spherical organelle enclosed by membrane.

3 GO annotations of molecular function

Name	Definition
phosphate ion binding	Binding to a phosphate ion.
sodium ion binding	Binding to a sodium ion (Na+).
sodium:phosphate symporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + phosphate(out) = Na+(in) + phosphate(in).

6 GO annotations of biological process

Name	Definition
cellular phosphate ion homeostasis	Any process involved in the maintenance of an internal steady state of phosphate ions at the level of a cell.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
phosphate ion transport	The directed movement of phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
protein metabolic process	The chemical reactions and pathways involving a protein. Includes protein modification.
response to estrogen	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics.
sodium-dependent phosphate transport	The directed movement of phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore, by a mechanism dependent upon sodium ions.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9DBP0	Slc34a2	Sodium-dependent phosphate transport protein 2B	Mus musculus (Mouse)	PR
Q9JJ09	Slc34a2	Sodium-dependent phosphate transport protein 2B	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAPWPELGDA	QPNPDKYLEG	AAGQQPTAPD	KSKETNKTDN	TEAPVTKIEL	LPSYSTATLI
70	80	90	100	110	120
DEPTEVDDPW	NLPTLQDSGI	KWSERDTKGK	ILCFFQGIGR	LILLLGFLYF	FVCSLDILSS
130	140	150	160	170	180
AFQLVGGKMA	GQFFSNSSIM	SNPLLGLVIG	VLVTVLVQSS	STSTSIVVSM	VSSSLLTVRA
190	200	210	220	230	240
AIPIIMGANI	GTSITNTIVA	LMQVGDRSEF	RRAFAGATVH	DFFNWLSVLV	LLPVEVATHY
250	260	270	280	290	300
LEIITQLIVE	SFHFKNGEDA	PDLLKVITKP	FTKLIVQLDK	KVISQIAMND	EKAKNKSLVK
310	320	330	340	350	360
IWCKTFTNKT	QINVTVPSTA	NCTSPSLCWT	DGIQNWTMKN	VTYKENIAKC	QHIFVNFHLP
370	380	390	400	410	420
DLAVGTILLI	LSLLVLCGCL	IMIVKILGSV	LKGQVATVIK	KTINTDFPFP	FAWLTGYLAI
430	440	450	460	470	480
LVGAGMTFIV	QSSSVFTSAL	TPLIGIGVIT	IERAYPLTLG	SNIGTTTTAI	LAALASPGNA
490	500	510	520	530	540
LRSSLQIALC	HFFFNISGIL	LWYPIPFTRL	PIRMAKGLGN	ISAKYRWFAV	FYLIIFFFLI
550	560	570	580	590	600
PLTVFGLSLA	GWRVLVGVGV	PVVFIIILVL	CLRLLQSRCP	RVLPKKLQNW	NFLPLWMRSL
610	620	630	640	650	660
KPWDAVVSKF	TGCFQMRCCC	CCRVCCRACC	LLCDCPKCCR	CSKCCEDLEE	AQEGQDVPVK
670	680
APETFDNITI	SREAQGEVPA	SDSKTECTAL