AiPD: Autoinhibited Protein Database

Q8TEH3

Gene name	DENND1A
Protein name	DENN domain-containing protein 1A
Names	Connecdenn 1, Connecdenn, Protein FAM31A
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57706
EC number
Protein Class

Descriptions

Connecdenn 1/2 are DENN (differentially expressed in normal and neoplastic cells) domain-bearing proteins that function as GEFs (guanine nucleotide exchange factors) for the small GTPase Rab35. In a study with a mouse homolog, Dennd1a (Q8K382), through an intramolecular interaction the C-terminal regions of connecdenn 1 obstructs substrate binding and reduce GEF activity. In the case of connecdenn 1, this activity is mediated by interaction of the DENN domain with a C-terminal region containing Ser-536 and Ser-538.

Autoinhibitory domains (AIDs)

527-547 (C-terminal autoinhibitory region) SS

Target domain	13-378 (DENN domain)
Relief mechanism	PTM
Assay

AID

527-547 (C-terminal autoinhibitory region)

Target domain

13-378 (DENN domain)

Relief mechanism

PTM (Akt-mediated phosphorylation in autoinhibitory region)

Assay

Accessory elements

No accessory elements

References

Kulasekaran G et al. (2015) "Phosphorylation-dependent Regulation of Connecdenn/DENND1 Guanine Nucleotide Exchange Factors", The Journal of biological chemistry, 290, 17999-18008

Autoinhibited structure

Activated structure

2 structures for Q8TEH3

Entry ID	Method	Resolution	Chain	Position	Source
6EKK	X-ray	182 A	A/B	2-394	PDB
AF-Q8TEH3-F1	Predicted				AlphaFoldDB

840 variants for Q8TEH3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs369931893 CA199761273	7	Q>*		No	ClinGen ESP
CA375142872 rs1588055478	12	T>P		No	ClinGen Ensembl
rs1163620967 CA375142805	20	A>G		No	ClinGen TOPMed gnomAD
CA199761232 rs898893753	22	P>H		No	ClinGen TOPMed
CA5233720 rs747263765	22	P>T		No	ClinGen ExAC gnomAD
CA375142777 rs1190543730	24	T>S		No	ClinGen gnomAD
CA5233719 rs544410606	26	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs750824179 CA5233717	27	T>I		No	ClinGen ExAC gnomAD
rs750824179 CA5233718	27	T>S		No	ClinGen ExAC gnomAD
CA375142726 rs1188368599	30	D>H		No	ClinGen TOPMed
CA375143005 rs1564280514	31	P>S		No	ClinGen Ensembl
CA375142986 rs1282830922	33	V>A		No	ClinGen gnomAD
CA375142990 rs1564280464	33	V>M		No	ClinGen Ensembl
rs1236287534 CA375142977	34	Q>R		No	ClinGen gnomAD
CA5233701 rs772191639	36	Q>R		No	ClinGen ExAC gnomAD
CA5233698 rs757723044	42	S>G		No	ClinGen ExAC gnomAD
CA375142710 rs1408807712	42	S>N		No	ClinGen gnomAD
rs556092132 CA5233697	44	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA199696073 rs1029170409	45	E>K		No	ClinGen Ensembl
CA375144237 rs1472208474	46	V>I		No	ClinGen TOPMed
rs1158469709 CA375144231	47	L>I		No	ClinGen gnomAD
CA5233681 rs746109262	48	Q>*		No	ClinGen ExAC gnomAD
rs996322478 CA199696054	48	Q>H		No	ClinGen TOPMed
CA5233678 rs771261229	51	T>A		No	ClinGen ExAC gnomAD
CA5233676 rs375141317	58	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA375144148 rs1282149295	59	V>M		No	ClinGen gnomAD
CA375143856 rs1248974924	61	S>R		No	ClinGen gnomAD
CA5233662 rs775600841	62	L>P		No	ClinGen ExAC gnomAD
rs767465290 CA5233661	65	S>G		No	ClinGen ExAC gnomAD
CA5233660 rs759712427	66	Q>R		No	ClinGen ExAC gnomAD
CA199687073 rs945437126	67	V>I		No	ClinGen gnomAD
CA375143824 rs945437126	67	V>L		No	ClinGen gnomAD
rs1026489518 CA199687069	68	G>D		No	ClinGen TOPMed gnomAD
rs1589960961 CA375143819	68	G>S		No	ClinGen Ensembl
CA5233657 COSM291008 rs749587293	74	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs773579482 CA5233656	78	I>V		No	ClinGen ExAC gnomAD
CA5233655 rs770282856	80	S>G		No	ClinGen ExAC gnomAD
CA375143676 rs781741061	88	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM752740 CA5233652 rs757822190	88	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs781741061 CA5233653	88	R>S		No	ClinGen ExAC TOPMed gnomAD
CA375143667 rs1315667662	89	L>F		No	ClinGen TOPMed
CA5233650 rs762433414	91	S>A		No	ClinGen ExAC gnomAD
CA5233651 rs762433414	91	S>T		No	ClinGen ExAC gnomAD
rs756986497 CA5233649	92	G>E		No	ClinGen ExAC gnomAD
rs367989785 CA5233647	93	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233648 rs367989785	93	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA199686912 rs556617187	97	F>L		No	ClinGen TOPMed
CA375142668 rs1416873015	102	Y>C		No	ClinGen gnomAD
rs1278704070 CA375142657	104	P>A		No	ClinGen TOPMed
CA375142636 rs1373795615	106	F>L		No	ClinGen TOPMed gnomAD
CA5233625 rs780923591	107	E>K		No	ClinGen ExAC gnomAD
rs1416847737 CA375142603	111	K>R		No	ClinGen gnomAD
CA375142593 rs1249223190	113	L>I		No	ClinGen gnomAD
CA5233620 rs750619127	115	I>M		No	ClinGen ExAC gnomAD
CA199593634 rs1024643458	117	A>V		No	ClinGen Ensembl
rs1190144315 CA375142556	118	D>E		No	ClinGen gnomAD
rs1460422351 CA375142547	120	T>A		No	ClinGen gnomAD
rs777071433 CA5233617	120	T>M		No	ClinGen ExAC TOPMed gnomAD
rs761174377 CA5233594	126	N>D		No	ClinGen ExAC gnomAD
CA375142369 rs1297494797	126	N>S		No	ClinGen gnomAD
CA5233593 rs776131182	130	E>D		No	ClinGen ExAC TOPMed gnomAD
rs199716390 CA199588583	131	L>V		No	ClinGen 1000Genomes
rs768208673 CA5233592	133	E>K		No	ClinGen ExAC gnomAD
rs545679026 CA5233591	134	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs914325457 CA199588556	138	L>P		No	ClinGen Ensembl
CA5233589 rs769278710	141	P>L		No	ClinGen ExAC TOPMed gnomAD
CA375142248 rs1475541806	144	G>E		No	ClinGen gnomAD
CA5233587 rs776186513	145	V>L		No	ClinGen ExAC gnomAD
rs1241832574 CA375142225	148	H>R		No	ClinGen TOPMed
rs768416831 CA5233586	148	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs746862464 CA5233585	149	L>I		No	ClinGen ExAC TOPMed gnomAD
rs758346679 CA5233584	150	S>I		No	ClinGen ExAC gnomAD
rs758346679 CA5233583	150	S>T		No	ClinGen ExAC gnomAD
rs145446980 CA375142209	151	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs145446980 CA5233582	151	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1336998041 CA375142191	152	H>Y		No	ClinGen gnomAD
rs1326210494 CA375142185	153	S>T		No	ClinGen TOPMed gnomAD
rs1347964576 CA375142162	156	T>A		No	ClinGen TOPMed
rs1215176711 CA375142156	157	V>L		No	ClinGen TOPMed
rs771958156 CA5233566	162	E>K		No	ClinGen ExAC gnomAD
rs1175941115 CA375142115	163	L>F		No	ClinGen TOPMed gnomAD
rs1175941115 CA375142117	163	L>I		No	ClinGen TOPMed gnomAD
CA5233565 rs745786864	164	P>A		No	ClinGen ExAC gnomAD
CA5233564 rs370312038	165	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159648110 CA375142101	165	S>R		No	ClinGen TOPMed gnomAD
rs761379995 CA375144114	170	R>I		No	ClinGen ExAC gnomAD
rs761379995 CA5233553	170	R>K		No	ClinGen ExAC gnomAD
rs753349260 CA5233552	173	T>A		No	ClinGen ExAC gnomAD
rs763689172 CA5233551	174	E>A		No	ClinGen ExAC gnomAD
CA5233549 rs775164532	176	F>S		No	ClinGen ExAC gnomAD
CA375144069 rs1298184550	177	V>L		No	ClinGen gnomAD
rs771833188 CA375144062	178	A>D		No	ClinGen ExAC TOPMed gnomAD
rs771833188 CA5233548	178	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1379635810 CA375144065	178	A>T		No	ClinGen TOPMed
rs78862236 CA5233547	179	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs530889216 CA5233546	180	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5233545 rs141759269	182	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs770097498 CA5233542	184	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5233541 rs748345307	186	H>R		No	ClinGen ExAC TOPMed gnomAD
rs751933671 CA5233538	189	A>T		No	ClinGen ExAC gnomAD
CA375143956 rs1462097274 COSM1238657	194	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA375143947 rs1396776730	195	R>C		No	ClinGen gnomAD
CA375143946 rs1162793630	195	R>H		No	ClinGen gnomAD
rs765687149 CA5233536	196	R>Q		No	ClinGen ExAC gnomAD
CA375143942 rs1182874828	196	R>W		No	ClinGen TOPMed
rs757699820 CA5233534	199	I>M		No	ClinGen ExAC gnomAD
rs1564887867 CA375143923	199	I>T		No	ClinGen Ensembl
CA5233535 rs753306222	199	I>V		No	ClinGen ExAC gnomAD
rs375263687 CA199572954	200	I>F		No	ClinGen ESP TOPMed gnomAD
CA375143921 rs375263687	200	I>L		No	ClinGen ESP TOPMed gnomAD
rs1048438004 CA375143901	202	S>R		No	ClinGen gnomAD
CA199572946 rs1048438004	202	S>R		No	ClinGen gnomAD
rs1405631003 CA375143241	208	T>A		No	ClinGen TOPMed
CA199557198 rs894588833	211	I>L		No	ClinGen TOPMed
rs936222820 CA199557185	213	G>A		No	ClinGen TOPMed gnomAD
rs936222820 CA375143206	213	G>E		No	ClinGen TOPMed gnomAD
CA5233510 rs751326941	213	G>R		No	ClinGen ExAC gnomAD
COSM203192 CA5233509 rs766053621	215	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs762885418 CA5233508	216	A>T		No	ClinGen ExAC TOPMed gnomAD
CA199557174 rs773922888	216	A>V		No	ClinGen gnomAD
CA199557168 rs550607029	217	M>I		No	ClinGen 1000Genomes gnomAD
CA375143188 rs1312724204	217	M>V		No	ClinGen Ensembl
CA375143172 rs1589427177	219	Y>S		No	ClinGen Ensembl
rs1178386542 CA375143142	223	W>G		No	ClinGen gnomAD
rs1178386542 CA375143143	223	W>R		No	ClinGen gnomAD
rs528861362 CA199557151	226	V>M		No	ClinGen 1000Genomes gnomAD
rs1212092300 CA375143108	227	Y>*		No	ClinGen gnomAD
rs1589427059 CA375143103	228	I>T		No	ClinGen Ensembl
rs1032418927 CA199557130	230	V>E		No	ClinGen Ensembl
rs761916306 CA5233505	230	V>M		No	ClinGen ExAC gnomAD
CA199557110 rs905444341	233	P>L		No	ClinGen gnomAD
CA375143055 rs1313681870	237	D>N		No	ClinGen gnomAD
CA199557079 rs1041958656	238	Y>C		No	ClinGen TOPMed gnomAD
rs375984977 CA199543610	246	L>I		No	ClinGen ESP TOPMed
rs371474924 CA5233485	254	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233484 rs760867626	254	M>T		No	ClinGen ExAC gnomAD
rs371474924 CA375142405	254	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233462 rs367593738	256	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233461 rs759788959	257	V>A		No	ClinGen ExAC gnomAD
CA375144467 rs1341667856	257	V>F		No	ClinGen TOPMed gnomAD
rs1341667856 CA375144469	257	V>I		No	ClinGen TOPMed gnomAD
rs774594067 CA5233460	258	R>G		No	ClinGen ExAC gnomAD
CA375144449 rs1341418261	260	M>V		No	ClinGen gnomAD
CA5233459 rs771261080	265	V>A		No	ClinGen ExAC gnomAD
CA5233457 rs199634898	266	V>M		No	ClinGen ExAC TOPMed gnomAD
rs770338025 CA5233456	267	I>T		No	ClinGen ExAC TOPMed gnomAD
rs746445913 CA5233455	269	N>D		No	ClinGen ExAC gnomAD
CA375144390 rs1341021356	269	N>T		No	ClinGen TOPMed
rs574249454 CA5233454	271	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs769812060 CA5233452	274	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769812060 CA199503176	274	T>S		No	ClinGen ExAC TOPMed gnomAD
CA375144338 rs757114466	277	T>I		No	ClinGen ExAC gnomAD
CA5233450 rs757114466	277	T>N		No	ClinGen ExAC gnomAD
rs376512545 CA5233448	278	P>S		No	ClinGen ESP ExAC gnomAD
CA199503109 rs375689901	280	D>G		No	ClinGen ESP TOPMed gnomAD
CA5233446 rs752681674	280	D>N		No	ClinGen ExAC gnomAD
rs1482598049 CA375144317	281	D>N		No	ClinGen gnomAD
CA5233444 rs755096901	283	Q>H		No	ClinGen ExAC gnomAD
CA5233445 rs767557607	283	Q>R		No	ClinGen ExAC gnomAD
rs1273751595 CA375144295	284	S>N		No	ClinGen gnomAD
rs1210752214 CA375144267	288	D>G		No	ClinGen gnomAD
CA5233442 rs147566976	288	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA375144263 rs1564762467	289	V>M		No	ClinGen Ensembl
rs759059063 CA5233418	290	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5233417 rs774024883	292	S>F		No	ClinGen ExAC gnomAD
CA5233416 rs770454313	293	L>M		No	ClinGen ExAC
rs1189145865 CA375143533	295	N>S		No	ClinGen gnomAD
rs748942525 CA5233415	296	R>K		No	ClinGen ExAC TOPMed gnomAD
CA5233413 rs375751600	298	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA375143502 rs1208116718	300	V>L		No	ClinGen TOPMed
CA5233411 rs781037070	301	S>P		No	ClinGen ExAC gnomAD
CA5233410 rs754919700	303	T>A		No	ClinGen ExAC TOPMed gnomAD
rs780212499 CA5233408	306	D>Y		No	ClinGen ExAC gnomAD
rs758446220 CA5233407	307	G>D		No	ClinGen ExAC gnomAD
CA375143455 rs1476607221	308	V>L		No	ClinGen TOPMed
rs1476607221 CA375143457	308	V>M		No	ClinGen TOPMed
rs750645781 CA5233406	309	A>S		No	ClinGen ExAC TOPMed gnomAD
rs779072046 CA5233405	310	R>K		No	ClinGen ExAC gnomAD
CA375143435 rs1162945715	311	A>V		No	ClinGen TOPMed gnomAD
rs999898184 CA375143411	315	A>S		No	ClinGen TOPMed gnomAD
CA199486662 rs999898184	315	A>T		No	ClinGen TOPMed gnomAD
CA375143386 rs1399059999	319	F>L		No	ClinGen TOPMed
rs753300648 CA5233400	321	G>S		No	ClinGen ExAC TOPMed gnomAD
rs754274494 CA199486655	322	S>R		No	ClinGen Ensembl
rs762424807 CA375143346	324	R>P		No	ClinGen ExAC TOPMed gnomAD
rs762424807 CA5233398	324	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5233397 rs376355710	325	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233394 rs776432167	326	A>S		No	ClinGen ExAC gnomAD
rs776432167 CA5233395	326	A>T		No	ClinGen ExAC gnomAD
rs779903728 CA5233391	329	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1340711181 CA375143265	330	E>D		No	ClinGen gnomAD
rs772189794 CA5233390	330	E>K		No	ClinGen ExAC gnomAD
rs115363971 CA5233388	331	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5233389 rs745939619	331	P>S		No	ClinGen ExAC gnomAD
CA374860132 rs1361993904	332	E>A		No	ClinGen TOPMed
rs1328795857 CA374860123	333	E>K		No	ClinGen gnomAD
rs1245312051 CA374860109	334	P>L		No	ClinGen gnomAD
CA374860111 rs1266234030	334	P>S		No	ClinGen gnomAD
rs1310228165 CA374860069	337	F>L		No	ClinGen gnomAD
rs1045785768 CA199645465	338	C>G		No	ClinGen TOPMed
rs774398957 CA374860063	338	C>S		No	ClinGen ExAC TOPMed gnomAD
CA5233333 rs774398957	338	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs201469755 CA5233330	341	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs201469755 CA5233331	341	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs770150522 CA374859995	342	F>L		No	ClinGen ExAC gnomAD
rs770150522 CA5233329	342	F>L		No	ClinGen ExAC gnomAD
rs748494730 CA5233328	343	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374859933 rs1459062729	346	Y>C		No	ClinGen gnomAD
CA5233326 rs755409308	347	R>C		No	ClinGen ExAC TOPMed gnomAD
CA374859919 rs755409308	347	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5233323 rs200424404	347	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233325 rs200424404	347	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233324 rs200424404	347	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA374859921 rs755409308	347	R>S		No	ClinGen ExAC TOPMed gnomAD
rs369922983 CA5233321	348	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA199645438 rs369922983	348	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs369922983 CA374859896	348	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233319 rs752437012	349	G>R		No	ClinGen ExAC TOPMed gnomAD
CA374859854 rs1588630050	351	M>L		No	ClinGen Ensembl
rs1487601881 CA374859816	353	Q>L		No	ClinGen gnomAD
CA199645425 rs904201994	355	L>M		No	ClinGen gnomAD
CA199645423 rs967265139	356	Q>H		No	ClinGen TOPMed
rs377192736 CA5233314	358	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377192736 CA5233313	358	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs147957932 CA5233312	359	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1325353953 CA374859723	360	Q>*		No	ClinGen gnomAD
CA374859711 rs1323580988	361	L>M		No	ClinGen gnomAD
CA374859654 rs1388173601	366	Q>E		No	ClinGen gnomAD
rs754678459 CA5233280	370	G>S		No	ClinGen ExAC gnomAD
CA5233279 rs139898166	371	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233278 rs779961742	372	L>*		No	ClinGen ExAC gnomAD
rs758316179 CA5233277	373	D>G		No	ClinGen ExAC gnomAD
CA374859504 rs1336714579	373	D>H		No	ClinGen gnomAD
rs760805756 CA199645201	376	N>S		No	ClinGen gnomAD
rs765285729 CA5233275	378	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5233273 rs202131059 COSM752745	379	E>K	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA374859430 rs1189533917	380	G>D		No	ClinGen TOPMed gnomAD
CA5233272 rs764183615	380	G>S		No	ClinGen ExAC TOPMed gnomAD
rs373336688 CA5233270	382	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233271 rs373336688	382	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233269 rs142859058	382	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233268 rs759963037	383	D>N		No	ClinGen ExAC gnomAD
rs774658427 CA5233267	390	N>D		No	ClinGen ExAC gnomAD
CA374859290 rs1341509235	391	M>I		No	ClinGen TOPMed
CA5233266 rs771486804	391	M>V		No	ClinGen ExAC gnomAD
CA5233264 rs776232573	393	E>K		No	ClinGen ExAC gnomAD
CA374859222 rs1382643715	395	A>D		No	ClinGen gnomAD
rs1446493210 CA374859225	395	A>T		No	ClinGen TOPMed gnomAD
rs1422503310 CA374858569	397	S>G		No	ClinGen TOPMed gnomAD
CA374858563 rs1364961369	397	S>N		No	ClinGen gnomAD
CA199644148 rs909945713	399	K>R		No	ClinGen Ensembl
CA199644143 rs562219854	400	L>P		No	ClinGen 1000Genomes
rs1451190857 CA374858487	401	Y>C		No	ClinGen gnomAD
CA374858392 rs1416800111	404	W>C		No	ClinGen TOPMed gnomAD
CA374858384 rs1185390868	405	L>V		No	ClinGen gnomAD
CA199644139 rs376066923	406	S>A		No	ClinGen ESP TOPMed
rs1248069364 CA374858342	407	T>A		No	ClinGen gnomAD
CA374858333 rs1220792602	408	V>I		No	ClinGen gnomAD
rs1207932916 CA374858321	409	R>P		No	ClinGen gnomAD
rs1207932916 CA374858323	409	R>Q		No	ClinGen gnomAD
CA199644136 rs575067875	409	R>W		No	ClinGen gnomAD
CA374857593 rs1360402541	421	T>I		No	ClinGen gnomAD
rs1180434511 CA374857603	421	T>P		No	ClinGen TOPMed
CA374857581 rs1231130377	422	K>E		No	ClinGen TOPMed
rs745610336 CA5233239	423	A>G		No	ClinGen ExAC gnomAD
rs1182640439 CA374857479	426	A>V		No	ClinGen TOPMed
CA374857467 rs1412207542	427	M>L		No	ClinGen TOPMed gnomAD
rs1412207542 CA374857464	427	M>V		No	ClinGen TOPMed gnomAD
rs749237555 CA5233236	428	K>R		No	ClinGen ExAC gnomAD
CA199643722 rs1017337056	429	T>P		No	ClinGen Ensembl
rs777642178 CA5233235	430	V>A		No	ClinGen ExAC
rs1009103351 CA199643719	431	Y>C		No	ClinGen Ensembl
CA199643718 rs868186860	432	K>E		No	ClinGen Ensembl
rs1564512324 CA374856907	436	D>A		No	ClinGen Ensembl
rs530502915 CA5233210	437	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5233211 rs751791199	437	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1380199968 CA374856848	441	G>V		No	ClinGen gnomAD
rs1383759499 CA374856845	442	I>V		No	ClinGen gnomAD
CA5233208 rs750765074	448	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5233207 rs765790619	448	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5233206 rs146298793	449	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184902169 CA374855143	453	D>N		No	ClinGen TOPMed
rs368539387 CA5233181	454	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs368539387 CA5233180	454	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA374855115 COSM1755923 COSM4007047 COSM1755925 rs1256010674	455	A>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA374855103 rs1320917840	456	E>D		No	ClinGen gnomAD
CA5233179 rs776486544	456	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1027448440 CA199641806	457	N>S		No	ClinGen gnomAD
CA374855072 rs747062773	460	A>P		No	ClinGen ExAC TOPMed gnomAD
rs747062773 CA5233177	460	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1450624093 CA374855054	461	P>S		No	ClinGen TOPMed
CA374855047 rs1588539581	462	T>P		No	ClinGen Ensembl
rs772243080 CA374855033	463	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772243080 CA5233175	463	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1018252121 CA374855017	465	E>K		No	ClinGen gnomAD
CA199641805 rs1018252121	465	E>Q		No	ClinGen gnomAD
CA5233174 rs746073510	468	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1317241697 CA374854960	469	K>N		No	ClinGen TOPMed gnomAD
COSM1203326 rs1365261126 CA374854931	472	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1365261126 CA374854933	472	P>Q		No	ClinGen TOPMed gnomAD
rs1470389226 CA374854935	472	P>S		No	ClinGen gnomAD
CA374854930 rs1437109542	473	S>P		No	ClinGen gnomAD
rs757627460 CA5233172	476	V>M		No	ClinGen ExAC gnomAD
rs778290085 CA5233170	477	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1446391424 CA374854898	477	E>K		No	ClinGen TOPMed
rs756607001 CA5233169	478	A>S		No	ClinGen ExAC gnomAD
CA374854862 rs1588539066	480	D>A		No	ClinGen Ensembl
CA374854867 rs1243755269	480	D>N		No	ClinGen TOPMed
COSM289063 rs753283092 CA5233168	481	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5233167 rs765787874	482	K>R		No	ClinGen ExAC gnomAD
rs1175436759 CA374854836	483	L>I		No	ClinGen TOPMed
CA5233165 rs764876964	484	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5233164 rs764876964	484	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776434364 CA5233162	486	D>N		No	ClinGen ExAC gnomAD
rs200978742 CA374854795	487	R>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs200978742 CA5233160	487	R>Q		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs146278757 CA5233161	487	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1238658 rs775555890 CA5233159	488	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA374854792 rs1469596411	488	R>W		No	ClinGen gnomAD
CA374854784 rs1381682407	489	P>S		No	ClinGen TOPMed
rs772040166 CA5233158	490	I>V		No	ClinGen ExAC gnomAD
CA374854751 rs149291111	492	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233157 rs149291111	492	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316899003 CA374854754	492	V>L		No	ClinGen TOPMed
rs1208992188 CA374854741	493	H>L		No	ClinGen gnomAD
rs1208992188 CA374854743	493	H>R		No	ClinGen gnomAD
rs866820156 CA199641803	493	H>Y		No	ClinGen Ensembl
CA374854706 rs1282647407	496	Q>R		No	ClinGen gnomAD
CA374848752 rs1442342755	497	V>E		No	ClinGen TOPMed
rs554854472 CA5233137	498	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5233136 rs373921365	498	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373921365 CA5233135	498	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5233134 rs771172412	500	P>L		No	ClinGen ExAC gnomAD
rs138578063 CA5233133	501	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs568026028 CA5233132	501	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374848721 rs568026028	501	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770053520 CA5233131	502	P>R		No	ClinGen ExAC gnomAD
CA374848707 rs1325890584	503	H>R		No	ClinGen gnomAD
rs1344879141 CA374848667	506	K>N		No	ClinGen gnomAD
CA374848635 rs1298687850	509	K>R		No	ClinGen gnomAD
CA5233128 rs781496835	512	I>M		No	ClinGen ExAC TOPMed gnomAD
rs150150301 CA5233127	513	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5233125 rs778364398	514	V>L		No	ClinGen ExAC gnomAD
rs141677631 CA5233124	516	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA374848547 rs1480311334	517	R>Q		No	ClinGen gnomAD
CA5233123 rs753427804	517	R>W		No	ClinGen ExAC gnomAD
rs777485564 CA5233122	518	R>K		No	ClinGen ExAC gnomAD
rs112018705 CA5233121	519	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767519626 CA374848500	522	P>L		No	ClinGen ExAC TOPMed gnomAD
rs767519626 CA5233119	522	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs767519626 CA374848499	522	P>R		No	ClinGen ExAC TOPMed gnomAD
CA374848506 rs1564425062	522	P>T		No	ClinGen Ensembl
CA5233117 rs751592161	523	S>R		No	ClinGen ExAC gnomAD
CA199632747 rs990459484	523	S>T		No	ClinGen Ensembl
CA5233116 rs766557790	524	P>L		No	ClinGen ExAC gnomAD
CA374848480 rs766557790	524	P>R		No	ClinGen ExAC gnomAD
rs755635673 CA5233008	526	Q>H		No	ClinGen ExAC gnomAD
CA374848458 rs1223067691	526	Q>R		No	ClinGen gnomAD
rs752178995 CA5233004	527	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1369499733 CA374874072	527	P>S		No	ClinGen TOPMed
CA199650102 rs1000902921	529	P>L		No	ClinGen TOPMed gnomAD
rs1465850668 CA374874057	529	P>S		No	ClinGen gnomAD
rs1418366783 CA374874043	531	R>Q		No	ClinGen gnomAD
COSM1624522 rs766154847 CA5232994	531	R>W	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs948085165 CA199650098	532	T>A		No	ClinGen Ensembl
rs1379807215 CA374874037	533	L>I		No	ClinGen TOPMed gnomAD
CA374874036 rs1379807215	533	L>V		No	ClinGen TOPMed gnomAD
rs987183920 CA199650095	534	R>T		No	ClinGen TOPMed gnomAD
CA374874023 rs1292560179	535	E>*		No	ClinGen TOPMed
CA374874025 rs1292560179	535	E>K		No	ClinGen TOPMed
rs1588250159 CA374874015	536	S>A		No	ClinGen Ensembl
rs1203276014 CA374874013	536	S>L		No	ClinGen TOPMed
rs1275450318 CA374874009	537	D>Y		No	ClinGen TOPMed
CA374874002 rs1254333847	538	S>G		No	ClinGen gnomAD
CA5232990 rs371715901	539	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5232989 rs368054934	539	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5232987 rs776546729	541	G>S		No	ClinGen ExAC TOPMed gnomAD
CA374873978 rs1284745771	542	D>N		No	ClinGen TOPMed gnomAD
rs1170083038 CA374873975	542	D>V		No	ClinGen TOPMed
CA5232984 rs780491508	543	E>K		No	ClinGen ExAC TOPMed gnomAD
CA199650068 rs149225844	545	E>G		No	ClinGen ESP TOPMed
CA374873948 rs1363119474	546	S>C		No	ClinGen gnomAD
CA374873949 rs1363119474	546	S>G		No	ClinGen gnomAD
rs1300402675 CA374873947	546	S>N		No	ClinGen gnomAD
CA5232980 rs779521644	547	P>T		No	ClinGen ExAC gnomAD
rs757672795 CA5232979	550	Q>K		No	ClinGen ExAC gnomAD
rs1455022655 CA374873910	551	V>A		No	ClinGen TOPMed
CA374873909 rs1455022655	551	V>G		No	ClinGen TOPMed
rs546579684 CA199650054	552	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546579684 CA5232977	552	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754417395 CA5232978	552	R>W		No	ClinGen ExAC gnomAD
rs1364528672 CA374873906	553	K>E		No	ClinGen TOPMed
rs1226290693 CA374873903 COSM1249943	553	K>T	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA374873893 rs1265822180	554	S>F		No	ClinGen gnomAD
CA5232976 rs754580261	555	T>P		No	ClinGen ExAC gnomAD
rs974474775 CA199650047	557	P>R		No	ClinGen Ensembl
rs371253977 CA199650043	558	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5232973 rs371253977	558	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1262384047 CA374873869	559	P>Q		No	ClinGen gnomAD
CA374873861 rs1588249681	560	A>V		No	ClinGen Ensembl
rs1223049335 CA374873859	561	P>A		No	ClinGen TOPMed gnomAD
rs1340411788 CA374873855	561	P>L		No	ClinGen TOPMed gnomAD
rs1223049335 CA374873858	561	P>S		No	ClinGen TOPMed gnomAD
rs773025069 CA5232972	562	P>R		No	ClinGen ExAC gnomAD
CA374873852 rs1489183793	562	P>S		No	ClinGen gnomAD
rs1243663517 CA374873849	563	D>N		No	ClinGen TOPMed gnomAD
rs199648302 CA5232971	564	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5232969 rs776689069	564	R>Q		No	ClinGen ExAC gnomAD
rs199648302 CA5232970	564	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5232966 rs571858526	569	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA199650015 rs955860892	572	E>V		No	ClinGen Ensembl
CA374873778 rs377526181	574	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5232962 rs377526181	574	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373545651 CA199650008	577	N>H		No	ClinGen ESP
CA199650004 rs1032943025	577	N>I		No	ClinGen TOPMed gnomAD
rs1170487963 CA374873753	577	N>K		No	ClinGen TOPMed
CA374873755 rs1032943025	577	N>S		No	ClinGen TOPMed gnomAD
CA374873756 rs1032943025	577	N>T		No	ClinGen TOPMed gnomAD
CA374873742 rs1200090110	579	D>E		No	ClinGen gnomAD
CA199649998 rs201498321	579	D>N		No	ClinGen 1000Genomes
rs778344810 CA5232960	580	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5232959 rs754385424	581	E>K		No	ClinGen ExAC gnomAD
rs754385424 CA374873732	581	E>Q		No	ClinGen ExAC gnomAD
rs751089227 CA5232958	581	E>V		No	ClinGen ExAC gnomAD
CA5232957 rs779644873	582	A>T		No	ClinGen ExAC gnomAD
CA199649980 rs369779021	583	A>T		No	ClinGen ESP TOPMed gnomAD
CA5232954 rs764931282	583	A>V		No	ClinGen ExAC gnomAD
rs1588249068 CA374873715	584	L>P		No	ClinGen Ensembl
CA5232953 rs761735480	586	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5232952 rs753651903	587	L>R		No	ClinGen ExAC gnomAD
rs866005704 CA199649959	589	Q>H		No	ClinGen Ensembl
CA199649961 rs1056547041	589	Q>K		No	ClinGen Ensembl
CA199649955 rs774855206	592	S>G		No	ClinGen Ensembl
rs1392036093 CA374873655	594	E>K		No	ClinGen gnomAD
CA5232950 rs201017866	597	R>C		No	ClinGen 1000Genomes ExAC gnomAD
COSM1203327 rs775679517 CA5232949	597	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1399312834 CA374873624	598	A>V		No	ClinGen gnomAD
CA374873619 rs1467574522	599	P>L		No	ClinGen gnomAD
CA5232948 rs375269403	599	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5232947 rs759819093	600	K>Q		No	ClinGen ExAC gnomAD
CA374873615 rs1296283525	600	K>R		No	ClinGen gnomAD
rs1588248764 CA374873609	601	D>A		No	ClinGen Ensembl
rs1419164850 CA374873606	601	D>E		No	ClinGen gnomAD
CA199649950 rs904658715	601	D>Y		No	ClinGen TOPMed gnomAD
CA374873597 rs1464746891	603	R>T		No	ClinGen gnomAD
rs749672773 CA5232944	605	Q>H		No	ClinGen ExAC
CA5232945 rs150045647	605	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1223910356 CA374873573	606	P>L		No	ClinGen TOPMed
CA374873567 rs1457013747	607	G>E		No	ClinGen gnomAD
CA5232943 rs778090960	611	Y>C		No	ClinGen ExAC gnomAD
CA5232942 rs770362481	612	Q>R		No	ClinGen ExAC gnomAD
CA199649372 rs1002723210	613	R>G		No	ClinGen Ensembl
CA374873517 rs1198066099	613	R>K		No	ClinGen TOPMed
CA374873513 rs1471583738	613	R>S		No	ClinGen gnomAD
CA374873486 rs1261659533	618	G>E		No	ClinGen TOPMed gnomAD
CA5232916 rs756967284	618	G>R		No	ClinGen ExAC TOPMed gnomAD
CA374873481 rs1216449185	619	S>C		No	ClinGen TOPMed gnomAD
rs777608404 CA5232914	621	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5232913 rs756040661	622	S>I		No	ClinGen ExAC gnomAD
CA374873455 rs1226858241	622	S>R		No	ClinGen gnomAD
rs767572605 CA5232911	623	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5232912 rs767572605	623	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5232909 rs751689270	623	R>H		No	ClinGen ExAC gnomAD
rs751689270 CA5232910	623	R>L		No	ClinGen ExAC gnomAD
rs943357883 CA199649340	624	G>A		No	ClinGen Ensembl
rs1037729488 CA374873452	624	G>R		No	ClinGen TOPMed gnomAD
CA199649343 rs1037729488	624	G>R		No	ClinGen TOPMed gnomAD
CA374873443 rs1588242589	625	V>G		No	ClinGen Ensembl
CA374873437 rs1400852304	626	T>I		No	ClinGen gnomAD
rs765585913 CA5232905	628	A>V		No	ClinGen ExAC gnomAD
CA374873423 rs1338099617	629	L>V		No	ClinGen TOPMed
rs545166170 CA5232902	631	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1389560116 CA374873402	632	T>S		No	ClinGen gnomAD
rs773887773 CA374873394	633	H>P		No	ClinGen ExAC gnomAD
rs773887773 CA5232900	633	H>R		No	ClinGen ExAC gnomAD
rs745342804 CA5232901	633	H>Y		No	ClinGen ExAC gnomAD
CA199649317 rs910646747	634	P>A		No	ClinGen TOPMed gnomAD
CA5232899 rs770403164	634	P>L		No	ClinGen ExAC TOPMed gnomAD
rs987493215 CA199649306	635	Y>F		No	ClinGen gnomAD
CA374873315 rs1219442983	638	L>F		No	ClinGen gnomAD
rs755911964 CA5232896	639	W>S		No	ClinGen ExAC TOPMed gnomAD
CA374873280 rs1259223623	640	S>N		No	ClinGen TOPMed
rs777702405 CA5232894	645	D>N		No	ClinGen ExAC gnomAD
rs1244208107 CA374873163	647	A>T		No	ClinGen gnomAD
rs1276168217 CA374873110	650	S>N		No	ClinGen gnomAD
CA374873112 rs1276168217	650	S>T		No	ClinGen gnomAD
rs751503358 CA5232892	653	P>Q		No	ClinGen ExAC gnomAD
rs1331638970 CA374873045	655	A>G		No	ClinGen TOPMed gnomAD
rs984965231 CA199649277	656	S>F		No	ClinGen TOPMed
CA5232891 rs766471139	657	P>S		No	ClinGen ExAC gnomAD
CA5232890 RCV000953297 rs149353656	661	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA374872918 rs1189921496	664	L>R		No	ClinGen gnomAD
rs573967328 CA5232886	665	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5232884 rs761228707	666	N>I		No	ClinGen ExAC gnomAD
rs1236187976 CA374872866	667	S>F		No	ClinGen gnomAD
CA374872870 rs1236187976	667	S>Y		No	ClinGen gnomAD
rs540955950 CA5232883	669	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374872828 rs1217355655	672	R>*		No	ClinGen gnomAD
COSM1177579 rs148701664 CA5232882	672	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5232881 rs558378738	673	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769596954 CA5232880	673	R>S		No	ClinGen ExAC TOPMed gnomAD
rs558378738 CA374872823	673	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5232878 rs747839834	674	P>S		No	ClinGen ExAC gnomAD
rs1331170973 CA374872800	676	N>K		No	ClinGen gnomAD
CA5232877 rs781109163 COSM1105029	677	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1249945 CA374872798 rs1449224989	677	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5232876 rs768633275	678	D>G		No	ClinGen ExAC gnomAD
rs144036086 CA5232875	680	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375684700 CA5232874	680	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA199649234 rs144036086	680	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA374872773 rs758450688	681	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5232873 rs758450688	681	L>R		No	ClinGen ExAC TOPMed gnomAD
CA374872768 rs1237796712	682	N>S		No	ClinGen gnomAD
rs1564393535 CA374872753	684	S>I		No	ClinGen Ensembl
CA5232872 rs538691610	686	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs779069429 CA374872739	686	K>M		No	ClinGen ExAC TOPMed gnomAD
CA5232871 rs779069429	686	K>R		No	ClinGen ExAC TOPMed gnomAD
COSM250908 rs1479368826 CA374872728	688	E>K	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1241672522 CA374872709	690	P>L		No	ClinGen TOPMed gnomAD
CA374872703 rs1305874809	691	T>I		No	ClinGen gnomAD
CA374872707 rs1588241594	691	T>P		No	ClinGen Ensembl
rs1228490416 CA374872697	692	P>L		No	ClinGen gnomAD
rs1588241557 CA374872696	693	T>P		No	ClinGen Ensembl
rs995726977 CA199649212	694	L>V		No	ClinGen Ensembl
CA374872685 rs760950776	695	G>C		No	ClinGen ExAC TOPMed gnomAD
rs760950776 CA5232866	695	G>S		No	ClinGen ExAC TOPMed gnomAD
rs753189230 CA5232865	696	S>N		No	ClinGen ExAC TOPMed gnomAD
rs769475609 CA5232861	701	R>Q		No	ClinGen ExAC gnomAD
rs772814564 CA5232862	701	R>W		No	ClinGen ExAC gnomAD
rs1588241430 CA374872609	707	T>P		No	ClinGen Ensembl
CA5232858 rs768434420	708	P>S		No	ClinGen ExAC TOPMed gnomAD
rs768434420 CA374872604	708	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5232857 rs137970832	709	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1179885730 CA374872582	711	G>V		No	ClinGen gnomAD
CA5232855 rs200808594	713	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374872560 rs1487037786	714	P>L		No	ClinGen gnomAD
CA374872562 rs1223762065	714	P>S		No	ClinGen TOPMed
CA374872550 rs1259591157	715	P>S		No	ClinGen gnomAD
CA374872535 rs1311100904	716	P>L		No	ClinGen TOPMed gnomAD
CA5232853 rs778943077	716	P>S		No	ClinGen ExAC gnomAD
rs1341447255 CA374872532	717	P>S		No	ClinGen gnomAD
CA5232850 rs201926869	720	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142681458 COSM131411 CA5232849	720	R>H	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs142681458 CA374872483	720	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459689380 CA374872481	721	P>A		No	ClinGen TOPMed gnomAD
rs753030912 CA5232848	721	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374872480 rs1459689380	721	P>S		No	ClinGen TOPMed gnomAD
CA374872457 rs1424014026	724	L>R		No	ClinGen gnomAD
rs1195803163 CA374872445	726	A>D		No	ClinGen gnomAD
CA374872439 rs1476784839	727	A>V		No	ClinGen gnomAD
CA374872436 rs138634586	728	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs138634586 CA5232845	728	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5232843 rs761416021	729	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5232842 rs776368154	729	A>V		No	ClinGen ExAC TOPMed gnomAD
rs200730676 CA199649132	730	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5232840 rs200730676	730	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374872399 rs1588240966	734	V>A		No	ClinGen Ensembl
CA5232838 rs771953018	734	V>I		No	ClinGen ExAC TOPMed gnomAD
CA199646015 rs1056773667	736	E>D		No	ClinGen TOPMed gnomAD
CA5232836 rs774275724	736	E>G		No	ClinGen ExAC gnomAD
CA199646008 rs770939915	737	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770939915 CA5232835	737	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs947529556 CA199646011	737	R>W		No	ClinGen gnomAD
rs926309742 CA199646002	738	L>M		No	ClinGen TOPMed
CA5232833 rs141091713	740	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5232829 rs755439880	741	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755439880 CA374872365	741	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs143737492 CA5232827	742	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143737492 CA374872358	742	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5232826 rs143737492	742	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752049322 CA5232828	742	R>W		No	ClinGen ExAC TOPMed gnomAD
CA199645951 COSM1624521 rs148982854	745	R>*	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5232823 rs148982854	745	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA374872342 rs540568147	745	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs540568147 CA5232822	745	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5232821 rs146808527	746	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1339063351 CA374872334	747	A>T		No	ClinGen gnomAD
rs573485155 CA5232820	749	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA374872319 rs1236002424	749	S>R		No	ClinGen gnomAD
CA374872308 rs1403125136	751	G>E		No	ClinGen TOPMed
CA374872305 rs1302729135	752	L>F		No	ClinGen gnomAD
CA374872304 rs1302729135	752	L>V		No	ClinGen gnomAD
CA374872289 rs1432547968	754	P>L		No	ClinGen gnomAD
rs1333197342 CA374872292	754	P>S		No	ClinGen gnomAD
rs369161055 CA5232818	755	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs773140344 CA5232816	756	V>G		No	ClinGen ExAC gnomAD
CA5232817 rs141317172	756	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA374872279 rs769972192	757	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5232815 rs769972192	757	V>L		No	ClinGen ExAC TOPMed gnomAD
rs748311987 CA374872257	760	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1172460092 CA374872258	760	G>S		No	ClinGen gnomAD
rs748311987 CA5232814	760	G>V		No	ClinGen ExAC TOPMed gnomAD
CA5232813 rs558030378	761	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755339464 CA5232812	762	T>S		No	ClinGen ExAC TOPMed gnomAD
rs780671593 CA5232810	763	E>D		No	ClinGen ExAC
rs758942571 CA5232809	764	L>V		No	ClinGen ExAC gnomAD
rs750988785 CA5232808	765	L>F		No	ClinGen ExAC TOPMed gnomAD
rs777136028 CA5232807	765	L>P		No	ClinGen ExAC gnomAD
CA5232804 rs200503663	767	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA374872207 rs1307370233	769	S>N		No	ClinGen gnomAD
CA374872192 rs1185165903	771	G>V		No	ClinGen TOPMed
rs372596722 CA5232799	773	G>A		No	ClinGen ESP ExAC gnomAD
rs139597680 CA5232800	773	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5232798 rs769698295	774	A>D		No	ClinGen ExAC gnomAD
CA374872161 rs537978057	777	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537978057 CA5232797	777	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374872151 rs1156474750	779	S>G		No	ClinGen gnomAD
CA5232794 rs747278506	780	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5232791 rs199752483	781	A>D		No	ClinGen ExAC TOPMed gnomAD
rs772626360 CA5232792	781	A>T		No	ClinGen ExAC gnomAD
CA374872126 rs1489325809	783	L>V		No	ClinGen gnomAD
rs189947178 CA5232788	784	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5232789 rs755527233	784	A>T		No	ClinGen ExAC TOPMed gnomAD
CA374872116 rs1246720944	785	L>V		No	ClinGen gnomAD
CA199645798 rs914854979	788	P>L		No	ClinGen TOPMed gnomAD
rs914854979 CA374872095	788	P>Q		No	ClinGen TOPMed gnomAD
rs914854979 CA374872094	788	P>R		No	ClinGen TOPMed gnomAD
CA199645793 rs922469701	790	S>N		No	ClinGen TOPMed
rs1479019109 CA374872064	793	W>S		No	ClinGen TOPMed
CA374872032 rs762739882	798	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5232783 rs762739882	798	L>V		No	ClinGen ExAC TOPMed gnomAD
rs376967578 CA5232781	799	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376967578 CA374872026	799	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5232782 rs185875912	799	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551131472 CA5232779	801	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768909607 CA5232778	801	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1281259862 CA374872014	802	P>A		No	ClinGen TOPMed
CA374872011 rs1240489115	802	P>L		No	ClinGen gnomAD
CA374872008 rs775924786	803	A>P		No	ClinGen ExAC TOPMed gnomAD
CA5232776 rs775924786	803	A>T		No	ClinGen ExAC TOPMed gnomAD
CA199645760 rs868409761	804	T>P		No	ClinGen TOPMed gnomAD
rs746263087 CA5232774	805	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746263087 CA374871995	805	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs993609484 CA199645748	806	N>I		No	ClinGen TOPMed
CA5232772 rs771433802	809	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1588239707 CA374871974	809	T>P		No	ClinGen Ensembl
rs780666850 CA5232770	810	P>A		No	ClinGen ExAC gnomAD
rs754548266 CA5232769	811	F>V		No	ClinGen ExAC gnomAD
CA374871955 rs1363288617	812	T>P		No	ClinGen TOPMed
rs1438212789 CA374871948	813	P>H		No	ClinGen gnomAD
CA5232767 rs779697484	814	Q>*		No	ClinGen ExAC gnomAD
CA374871942 rs1437917180	814	Q>P		No	ClinGen TOPMed
rs1160613193 CA374871936	815	F>V		No	ClinGen TOPMed
rs1417998020 CA374871925	816	S>N		No	ClinGen TOPMed gnomAD
rs1467703965 CA374871930	816	S>R		No	ClinGen gnomAD
rs1417998020 CA374871926	816	S>T		No	ClinGen TOPMed gnomAD
CA374871917 rs1423710107	817	F>C		No	ClinGen TOPMed
rs1301041801 CA374871916	817	F>L		No	ClinGen TOPMed
rs1362092744 CA374871911	818	P>H		No	ClinGen gnomAD
rs1387276918 CA374871907	819	P>A		No	ClinGen TOPMed
rs1248486134 CA374871905	819	P>H		No	ClinGen gnomAD
rs1421703673 CA374871902	820	A>T		No	ClinGen gnomAD
rs1042165631 CA199645726	820	A>V		No	ClinGen gnomAD
rs1252210423 CA374871891	822	T>P		No	ClinGen TOPMed gnomAD
rs1241721929 CA374871874	824	T>I		No	ClinGen TOPMed
CA374871879 rs1588239355	824	T>P		No	ClinGen Ensembl
rs1199037267 CA374871867	826	F>L		No	ClinGen gnomAD
rs1358252863 CA374871855	827	P>L		No	ClinGen TOPMed
CA5232765 rs116352541	827	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5232764 rs764981032	829	P>S		No	ClinGen ExAC TOPMed gnomAD
CA374871774 rs1276077491	834	F>V		No	ClinGen gnomAD
rs757200919 CA5232763	837	S>Y		No	ClinGen ExAC gnomAD
CA199645707 rs181525590	838	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs181525590 CA5232761	838	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5232760 rs561888467	839	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA374871710 rs1449482454	839	P>T		No	ClinGen gnomAD
CA374871695 rs1328806245	840	A>T		No	ClinGen TOPMed gnomAD
rs775804109 CA5232759	842	P>A		No	ClinGen ExAC gnomAD
CA5232758 rs767879833	842	P>L		No	ClinGen ExAC gnomAD
CA374871651 COSM4152050 rs1181005123	844	T>P	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1230926155 CA374871629	845	L>P		No	ClinGen gnomAD
rs771257511 CA5232755	846	P>L		No	ClinGen ExAC gnomAD
CA199645693 rs868172108	847	L>M		No	ClinGen Ensembl
rs1231445001 CA374871604	847	L>P		No	ClinGen TOPMed gnomAD
CA199645692 rs866031881	848	V>G		No	ClinGen Ensembl
rs1203905394 CA374871581	849	S>C		No	ClinGen gnomAD
rs1588238947 CA374871588	849	S>P		No	ClinGen Ensembl
rs1325063701 CA374871565	850	T>I		No	ClinGen gnomAD
rs1309556019 CA374871574	850	T>P		No	ClinGen gnomAD
rs374521148 CA5232753	851	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA374871550 rs1371676870	852	A>S		No	ClinGen gnomAD
CA5232752 rs768095751	853	G>R		No	ClinGen ExAC TOPMed gnomAD
rs768095751 CA374871541	853	G>W		No	ClinGen ExAC TOPMed gnomAD
CA5232751 rs746547346	854	P>H		No	ClinGen ExAC TOPMed
CA374871522 rs746547346	854	P>L		No	ClinGen ExAC TOPMed
CA5232750 rs779643425	855	F>S		No	ClinGen ExAC gnomAD
rs758039314 CA5232749	856	G>R		No	ClinGen ExAC TOPMed gnomAD
rs758039314 CA199645653	856	G>W		No	ClinGen ExAC TOPMed gnomAD
CA374871468 rs1361194667	858	P>L		No	ClinGen gnomAD
CA374871461 rs1160714208	859	P>S		No	ClinGen gnomAD
CA374871449 rs1417524136	860	A>S		No	ClinGen gnomAD
CA374871418 rs1588238643	862	L>P		No	ClinGen Ensembl
CA374871408 rs1405584849	863	G>E		No	ClinGen gnomAD
rs1258794638 CA374871412	863	G>R		No	ClinGen TOPMed
rs1472964681 CA374871402	864	P>L		No	ClinGen TOPMed gnomAD
rs1424124186 CA374871401	865	A>T		No	ClinGen TOPMed
rs778760002 CA5232747	867	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5232744 rs775689158	869	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1314749836 CA374871369	870	L>F		No	ClinGen gnomAD
CA374871348 rs1292007686	874	S>G		No	ClinGen TOPMed gnomAD
CA199645616 rs751205199	874	S>I		No	ClinGen Ensembl
CA199645608 rs751205199	874	S>N		No	ClinGen Ensembl
CA374871349 rs1292007686	874	S>R		No	ClinGen TOPMed gnomAD
rs1381352163 CA374871343	875	A>P		No	ClinGen TOPMed
rs767538874 CA5232741	876	G>S		No	ClinGen ExAC gnomAD
CA374871317 rs1300092239	878	C>G		No	ClinGen gnomAD
CA5232740 rs759789849	879	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1220993476 CA374871293	880	P>S		No	ClinGen TOPMed
CA199645596 rs189520846	881	H>R		No	ClinGen 1000Genomes
CA374871258 rs1405761989	882	R>K		No	ClinGen TOPMed gnomAD
rs974189822 CA374871156	889	A>S		No	ClinGen TOPMed gnomAD
rs974189822 CA199645562	889	A>T		No	ClinGen TOPMed gnomAD
CA374871150 rs1187762062	889	A>V		No	ClinGen gnomAD
CA374871107 rs1221784601	892	M>I		No	ClinGen gnomAD
CA199645561 rs962581238	892	M>V		No	ClinGen TOPMed gnomAD
rs773663026 CA5232736	893	P>L		No	ClinGen ExAC gnomAD
CA199645557 rs984089854	893	P>S		No	ClinGen TOPMed
rs770318593 CA5232735	894	N>D		No	ClinGen ExAC gnomAD
rs1430900865 CA374871093	894	N>S		No	ClinGen TOPMed
CA374871087 rs1588238064	895	L>F		No	ClinGen Ensembl
CA374871075 rs1359277211	897	G>S		No	ClinGen TOPMed
CA5232733 rs528747641	900	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5232734 rs201746975	900	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1438838088 CA374871047	901	M>V		No	ClinGen gnomAD
CA5232731 rs745533261	902	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1162512014 CA374871029	903	T>I		No	ClinGen gnomAD
rs1027679666 CA374871017	905	T>K		No	ClinGen TOPMed gnomAD
CA199645527 rs1027679666	905	T>M		No	ClinGen TOPMed gnomAD
CA5232729 rs770704072	906	S>N		No	ClinGen ExAC gnomAD
rs903159600 CA199645514	907	P>A		No	ClinGen TOPMed gnomAD
rs1035108429 CA199645511	907	P>L		No	ClinGen TOPMed gnomAD
COSM1701699 rs777747780 CA5232727	910	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777747780 CA374870988	910	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs947427541 CA199645501	913	P>L		No	ClinGen gnomAD
CA199645496 rs1024218215	915	A>P		No	ClinGen TOPMed gnomAD
CA374870964 rs1024218215	915	A>T		No	ClinGen TOPMed gnomAD
rs755016081 CA5232723	915	A>V		No	ClinGen ExAC TOPMed gnomAD
CA199645494 rs1056015093	916	V>A		No	ClinGen Ensembl
CA374870955 rs1369042880	917	A>T		No	ClinGen gnomAD
CA5232722 rs376233242	918	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA199645491 rs376233242	918	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1325396964 CA374870947	918	P>S		No	ClinGen gnomAD
CA5232721 rs766530275	919	S>L		No	ClinGen ExAC gnomAD
rs766530275 CA374870941	919	S>W		No	ClinGen ExAC gnomAD
CA374870940 rs1564390395	920	R>G		No	ClinGen Ensembl
rs370911229 CA199645474	920	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs765640826 CA5232718	921	I>S		No	ClinGen ExAC gnomAD
CA5232717 rs564824791	922	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs777076599 CA5232716	922	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1046379153 CA199645467	923	T>M		No	ClinGen gnomAD
CA374870911 rs1194637817	925	P>S		No	ClinGen gnomAD
rs1453608974 CA374870904	926	L>P		No	ClinGen gnomAD
CA5232712 rs376419805	928	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs748993355 CA5232711	928	R>H		No	ClinGen ExAC gnomAD
rs376419805 CA374870896	928	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434922486 CA374870884	930	S>C		No	ClinGen TOPMed
CA374870873 rs1345746656	931	A>V		No	ClinGen TOPMed gnomAD
rs1336169856 CA374870865	933	A>T		No	ClinGen gnomAD
CA5232709 rs769777771	935	E>K		No	ClinGen ExAC gnomAD
rs1465554691 CA374870833	937	K>N		No	ClinGen gnomAD
rs1395681960 CA374870830	938	Q>*		No	ClinGen gnomAD
rs1588237333 CA374870827	938	Q>R		No	ClinGen Ensembl
CA199645446 rs973757286	939	G>E		No	ClinGen Ensembl
CA374870824 rs1313347212	939	G>R		No	ClinGen gnomAD
CA374870808 rs1373052499	942	L>M		No	ClinGen gnomAD
rs911086434 CA199645424	945	G>A		No	ClinGen TOPMed
CA5232705 rs751624191	945	G>R		No	ClinGen ExAC TOPMed gnomAD
CA374870783 rs1160381588	946	D>A		No	ClinGen TOPMed gnomAD
CA374870779 rs1564390056	946	D>E		No	ClinGen Ensembl
CA374870782 rs1160381588	946	D>G		No	ClinGen TOPMed gnomAD
rs1160381588 CA374870781	946	D>V		No	ClinGen TOPMed gnomAD
rs780224992 CA5232703	947	P>T		No	ClinGen ExAC gnomAD
CA5232702 rs758597456	948	P>A		No	ClinGen ExAC gnomAD
rs765585771 CA5232700	948	P>L		No	ClinGen ExAC TOPMed gnomAD
rs765585771 CA5232701	948	P>R		No	ClinGen ExAC TOPMed gnomAD
CA374870768 rs1190637786	949	L>I		No	ClinGen gnomAD
CA374870748 rs1417851475	952	P>L		No	ClinGen TOPMed gnomAD
CA374870740 rs754315383	954	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5232698 rs754315383	954	P>T		No	ClinGen ExAC TOPMed gnomAD
rs764535042 CA374870732	955	P>H		No	ClinGen ExAC TOPMed gnomAD
rs764535042 CA5232697	955	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764535042 CA374870731	955	P>R		No	ClinGen ExAC TOPMed gnomAD
CA374870713 rs1353101399	957	G>V		No	ClinGen gnomAD
rs1178195548 CA374870700	958	L>P		No	ClinGen Ensembl
rs1176268196 CA374870690	959	E>K		No	ClinGen TOPMed
rs1588236979 CA374870668	960	P>L		No	ClinGen Ensembl
rs1239503909 CA374870664	961	T>A		No	ClinGen TOPMed
CA199645407 rs373157481	961	T>I		No	ClinGen ESP gnomAD
rs955180567 CA199645403	964	P>L		No	ClinGen Ensembl
CA374870599 rs1190455796	966	A>T		No	ClinGen Ensembl
rs773709278 CA5232695	967	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5232693 rs766040661	968	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA374870538 rs1403957996	970	A>G		No	ClinGen TOPMed
CA374870529 rs150591766	971	R>G		No	ClinGen ESP TOPMed
rs769654098 CA374870512	971	R>S		No	ClinGen ExAC TOPMed gnomAD
CA374870485 rs1156388144	973	P>R		No	ClinGen gnomAD
rs1564389782 CA374870492	973	P>T		No	ClinGen Ensembl
CA374870473 rs1184016071	975	E>K		No	ClinGen gnomAD
rs747017882 CA5232686	979	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA5232685 rs779985177	979	Q>H		No	ClinGen ExAC gnomAD
rs747017882 CA5232687	979	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1447779169 CA374870441	979	Q>R		No	ClinGen TOPMed
CA374870412 rs1256980283	983	Q>R		No	ClinGen gnomAD
CA5232684 rs758541150	984	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5232683 rs779124894	985	V>L		No	ClinGen ExAC gnomAD
CA5232682 rs779124894	985	V>M		No	ClinGen ExAC gnomAD
rs754188975 CA5232680	986	S>G		No	ClinGen ExAC gnomAD
CA374870397 rs754188975	986	S>R		No	ClinGen ExAC gnomAD
rs764565454 CA5232679 COSM3788168	987	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs764565454 CA374870387	987	P>R		No	ClinGen ExAC TOPMed gnomAD
rs371138017 CA199645340	987	P>S		No	ClinGen ESP TOPMed gnomAD
CA374870384 rs1292527052	988	S>C		No	ClinGen gnomAD
CA5232677 rs753309845	988	S>T		No	ClinGen ExAC TOPMed gnomAD
CA5232676 rs765919260	989	P>L		No	ClinGen ExAC TOPMed gnomAD
CA374870373 rs1285963938	990	A>P		No	ClinGen TOPMed gnomAD
rs1285963938 CA374870372	990	A>S		No	ClinGen TOPMed gnomAD
CA374870367 rs201942010	991	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA374870365 rs761567995	991	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5232672 rs761567995	991	L>R		No	ClinGen ExAC TOPMed gnomAD
rs776270301 CA374870361	992	A>G		No	ClinGen ExAC TOPMed
rs1055858477 CA199645316	992	A>T		No	ClinGen Ensembl
CA5232671 rs776270301	992	A>V		No	ClinGen ExAC TOPMed
CA5232668 rs1169237981	993	P>L		No	ClinGen TOPMed
rs1169237981 CA374870357	993	P>R		No	ClinGen TOPMed
rs746917881 CA374870348	995	P>S		No	ClinGen ExAC TOPMed gnomAD
rs746917881 CA5232666	995	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1564389373 CA374870339	996	D>V		No	ClinGen Ensembl
CA5232661 rs376350165	997	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1339656038 CA374870336	997	S>P		No	ClinGen TOPMed
CA374870323 rs1371372838	999	E>*		No	ClinGen gnomAD
CA374870303 rs1192803732	1002	R>G		No	ClinGen gnomAD
CA5232656 rs757446451	1003	K>N		No	ClinGen ExAC TOPMed gnomAD
rs745972611 CA5232658	1003	K>R		No	ClinGen ExAC gnomAD
CA5232655 rs749579939	1004	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs777992283 CA5232654	1004	Q>R		No	ClinGen ExAC gnomAD
rs1275952663 CA374870270	1006	E>D		No	ClinGen TOPMed
CA5232653 rs756502251	1006	E>Q		No	ClinGen ExAC gnomAD
CA5232651 rs768161570	1009	E>K		No	ClinGen ExAC gnomAD
rs757940275 CA5232650	1010	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1459198832 CA374870242	1010	E>W		No	ClinGen gnomAD

No associated diseases with Q8TEH3

9 regional properties for Q8TEH3

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	22 - 280	IPR000719
domain	EF-hand domain	323 - 394	IPR002048-1
domain	EF-hand domain	395 - 464	IPR002048-2
active_site	Serine/threonine-protein kinase, active site	142 - 154	IPR008271
binding_site	Protein kinase, ATP binding site	28 - 51	IPR017441
binding_site	EF-Hand 1, calcium-binding site	336 - 348	IPR018247-1
binding_site	EF-Hand 1, calcium-binding site	372 - 384	IPR018247-2
binding_site	EF-Hand 1, calcium-binding site	408 - 420	IPR018247-3
binding_site	EF-Hand 1, calcium-binding site	442 - 454	IPR018247-4

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Peripheral membrane protein Presynaptic cell membrane	Associates to membranes via lipid-binding activity
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
clathrin-coated vesicle	A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes.
clathrin-coated vesicle membrane	The lipid bilayer surrounding a clathrin-coated vesicle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
presynaptic membrane	A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane.

3 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
phosphatidylinositol phosphate binding	Binding to phosphatidylinositol phosphate.
phosphatidylinositol-3-phosphate binding	Binding to phosphatidylinositol-3-phosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' position.

4 GO annotations of biological process

Name	Definition
endocytic recycling	The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of Rab protein signal transduction	Any process that modulates the frequency, rate or extent of Rab protein signal transduction.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6P3S1	DENND1B	DENN domain-containing protein 1B	Homo sapiens (Human)	SS
Q8C4S8	Dennd2a	DENN domain-containing protein 2A	Mus musculus (Mouse)	PR
Q3U1T9	Dennd1b	DENN domain-containing protein 1B	Mus musculus (Mouse)	PR
Q8K382	Dennd1a	DENN domain-containing protein 1A	Mus musculus (Mouse)	EV

10	20	30	40	50	60
MGSRIKQNPE	TTFEVYVEVA	YPRTGGTLSD	PEVQRQFPED	YSDQEVLQTL	TKFCFPFYVD
70	80	90	100	110	120
SLTVSQVGQN	FTFVLTDIDS	KQRFGFCRLS	SGAKSCFCIL	SYLPWFEVFY	KLLNILADYT
130	140	150	160	170	180
TKRQENQWNE	LLETLHKLPI	PDPGVSVHLS	VHSYFTVPDT	RELPSIPENR	NLTEYFVAVD
190	200	210	220	230	240
VNNMLHLYAS	MLYERRILII	CSKLSTLTAC	IHGSAAMLYP	MYWQHVYIPV	LPPHLLDYCC
250	260	270	280	290	300
APMPYLIGIH	LSLMEKVRNM	ALDDVVILNV	DTNTLETPFD	DLQSLPNDVI	SSLKNRLKKV
310	320	330	340	350	360
STTTGDGVAR	AFLKAQAAFF	GSYRNALKIE	PEEPITFCEE	AFVSHYRSGA	MRQFLQNATQ
370	380	390	400	410	420
LQLFKQFIDG	RLDLLNSGEG	FSDVFEEEIN	MGEYAGSDKL	YHQWLSTVRK	GSGAILNTVK
430	440	450	460	470	480
TKANPAMKTV	YKFAKDHAKM	GIKEVKNRLK	QKDIAENGCA	PTPEEQLPKT	APSPLVEAKD
490	500	510	520	530	540
PKLREDRRPI	TVHFGQVRPP	RPHVVKRPKS	NIAVEGRRTS	VPSPEQPQPY	RTLRESDSAE
550	560	570	580	590	600
GDEAESPEQQ	VRKSTGPVPA	PPDRAASIDL	LEDVFSNLDM	EAALQPLGQA	KSLEDLRAPK
610	620	630	640	650	660
DLREQPGTFD	YQRLDLGGSE	RSRGVTVALK	LTHPYNKLWS	LGQDDMAIPS	KPPAASPEKP
670	680	690	700	710	720
SALLGNSLAL	PRRPQNRDSI	LNPSDKEEVP	TPTLGSITIP	RPQGRKTPEL	GIVPPPPIPR
730	740	750	760	770	780
PAKLQAAGAA	LGDVSERLQT	DRDRRAALSP	GLLPGVVPQG	PTELLQPLSP	GPGAAGTSSD
790	800	810	820	830	840
ALLALLDPLS	TAWSGSTLPS	RPATPNVATP	FTPQFSFPPA	GTPTPFPQPP	LNPFVPSMPA
850	860	870	880	890	900
APPTLPLVST	PAGPFGAPPA	SLGPAFASGL	LLSSAGFCAP	HRSQPNLSAL	SMPNLFGQMP
910	920	930	940	950	960
MGTHTSPLQP	LGPPAVAPSR	IRTLPLARSS	ARAAETKQGL	ALRPGDPPLL	PPRPPQGLEP
970	980	990	1000
TLQPSAPQQA	RDPFEDLLQK	TKQDVSPSPA	LAPAPDSVEQ	LRKQWETFE