AiPD: Autoinhibited Protein Database

Q2V2M9

Gene name	FHOD3 (FHOS2, KIAA1695)
Protein name	FH1/FH2 domain-containing protein 3
Names	Formactin-2, Formin homolog overexpressed in spleen 2, hFHOS2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80206
EC number
Protein Class

Descriptions

Formin-family proteins, in the active state, form actinbased structures such as stress fibres. Formin homology domain protein 3 (FHOD3) is a major endothelial formin. In a study with human FHOD1, FHOD1 was normally autoinhibited by intramolecular interaction between the N-terminal domain and C-terminal DAD domain. Since other formin proteins contain a GBD domain at N-terminus, FHOD3 may also contain a GBD domain and this GBD domain may interact with the DAD domain.

Autoinhibitory domains (AIDs)

1359-1391 (DAD domain) SS

Target domain	883-1328 (FH2 domains)
Relief mechanism	PTM
Assay

AID

1359-1391 (DAD domain)

Target domain

883-1328 (FH2 domains)

Relief mechanism

PTM (ROCK-catalyzed phosphorylation of residues within DAD domain)

Assay

Accessory elements

No accessory elements

References

Takeya R et al. (2008) "The mammalian formin FHOD1 is activated through phosphorylation by ROCK and mediates thrombin-induced stress fibre formation in endothelial cells", The EMBO journal, 27, 618-28

Autoinhibited structure

Activated structure

1 structures for Q2V2M9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q2V2M9-F1	Predicted				AlphaFoldDB

1155 variants for Q2V2M9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8941703 RCV001095747 rs144993045	473	I>T	Hypertrophic cardiomyopathy 7 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1258535181 CA402291815	3	T>M		No	ClinGen gnomAD
rs757258398 CA8941141	6	C>S		No	ClinGen ExAC gnomAD
rs781371018 CA8941142	6	C>W		No	ClinGen ExAC
CA402291837 rs1199324677	7	R>Q		No	ClinGen gnomAD
rs1490019516 CA402291836	7	R>W		No	ClinGen TOPMed gnomAD
rs1598611778 CA402291867	11	L>F		No	ClinGen Ensembl
CA402291875 rs1457701295	12	D>E		No	ClinGen TOPMed
CA402291879 rs1179952276	13	D>H		No	ClinGen gnomAD
rs1363397588 CA402291886	14	T>A		No	ClinGen TOPMed gnomAD
CA402291889 rs1454375774	14	T>M		No	ClinGen gnomAD
rs1598611870 CA402291896	15	D>G		No	ClinGen Ensembl
CA402291891 rs1209696746	15	D>N		No	ClinGen TOPMed gnomAD
rs1209696746 CA402291893	15	D>Y		No	ClinGen TOPMed gnomAD
CA402291900 rs1300103615	16	P>A		No	ClinGen TOPMed
CA8941144 rs527822869	16	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA298841523 rs868016858	17	F>L		No	ClinGen TOPMed gnomAD
rs868016858 CA402291910	17	F>L		No	ClinGen TOPMed gnomAD
rs1302450611 CA402291906	17	F>V		No	ClinGen gnomAD
rs780506143 CA8941145	18	N>S		No	ClinGen ExAC gnomAD
CA402291919 rs1304425062	19	S>G		No	ClinGen gnomAD
rs939238064 CA298841527	23	P>S		No	ClinGen TOPMed
rs749673910 CA402291971	26	S>R		No	ClinGen ExAC TOPMed gnomAD
CA298841531 rs894865057	26	S>R		No	ClinGen TOPMed
CA298841533 rs76159556	26	S>T		No	ClinGen Ensembl
rs755501978 CA8941147	27	R>P		No	ClinGen ExAC TOPMed gnomAD
rs991111933 CA298841538	29	P>L		No	ClinGen TOPMed gnomAD
rs991111933 CA402291987	29	P>R		No	ClinGen TOPMed gnomAD
rs1489688603 CA402291990	30	L>Q		No	ClinGen gnomAD
CA8941149 rs748740273	32	T>K		No	ClinGen ExAC gnomAD
rs1383507921 CA402292016	34	R>C		No	ClinGen gnomAD
CA8941150 rs371634710	37	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162892881 CA402292041	38	A>T		No	ClinGen gnomAD
CA298841546 rs1047727032	38	A>V		No	ClinGen Ensembl
CA402292048 rs1244247128	39	L>F		No	ClinGen TOPMed
CA298841555 rs868485180	40	G>D		No	ClinGen TOPMed gnomAD
CA298841552 rs868485180	40	G>V		No	ClinGen TOPMed gnomAD
rs1216143689 CA402292075	44	A>P		No	ClinGen TOPMed
CA402292080 rs1355382811	44	A>V		No	ClinGen TOPMed
rs1323965196 CA402292137	53	P>R		No	ClinGen gnomAD
rs1360434672 CA402292166	56	L>M		No	ClinGen gnomAD
CA8941180 rs764096122	63	L>F		No	ClinGen ExAC gnomAD
rs773385791 CA8941181	63	L>P		No	ClinGen ExAC gnomAD
CA8941184 rs375600648	66	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs375600648 CA8941183	66	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1323240658 CA402292241	67	G>D		No	ClinGen gnomAD
rs772371175 CA8941186 COSM1207129	68	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1215072623 CA402292258	70	L>V		No	ClinGen gnomAD
rs758768699 CA8941189	71	D>A		No	ClinGen ExAC gnomAD
rs758768699 CA8941188	71	D>G		No	ClinGen ExAC gnomAD
CA8941191 rs756720244	72	L>F		No	ClinGen ExAC gnomAD
CA402292285 rs1336029261	74	A>V		No	ClinGen TOPMed
rs1233168725 CA402292289	75	T>A		No	ClinGen gnomAD
CA402292291 rs1436664221	75	T>N		No	ClinGen TOPMed
CA8941192 rs138122819	79	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs186410723 CA402292322	80	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186410723 CA8941194	80	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8941193 rs199791578	80	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941196 rs749139649	81	D>G		No	ClinGen ExAC gnomAD
CA402292334 rs1410671750	82	E>G		No	ClinGen TOPMed
CA8941197 rs768664285	85	G>D		No	ClinGen ExAC TOPMed gnomAD
CA402292357 rs768664285	85	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1301813977 CA402292359	86	F>L		No	ClinGen gnomAD
rs761883424 CA8941199	90	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8941201 rs373907940	91	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA298848664 rs373907940	91	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941222 rs769863952 COSM302236	92	R>Q	central_nervous_system endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8941221 rs759696197	92	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1435844882 CA402292445	97	S>G		No	ClinGen gnomAD
rs775746153 CA8941223	97	S>N		No	ClinGen ExAC gnomAD
CA402292478 rs1568185357	102	T>A		No	ClinGen Ensembl
COSM50455 CA402292482 rs1238368366	102	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1568185357 CA402292479	102	T>P		No	ClinGen Ensembl
CA8941225 rs367805292	105	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232772173 CA402292506	106	V>A		No	ClinGen TOPMed
CA8941226 rs751932074 COSM3717898	107	R>K	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8941227 rs376390957	109	H>R		No	ClinGen ESP ExAC gnomAD
rs1598877397 CA402292531	110	A>V		No	ClinGen Ensembl
CA402292541 rs1397641790	112	I>V		No	ClinGen gnomAD
rs1345145471 CA402293391	114	K>N		No	ClinGen gnomAD
CA8941252 rs754612889	116	Y>C		No	ClinGen ExAC gnomAD
CA402293421 rs1474603611	117	N>D		No	ClinGen TOPMed
CA402293419 rs1474603611	117	N>H		No	ClinGen TOPMed
rs765016538 CA8941253	118	S>C		No	ClinGen ExAC TOPMed gnomAD
CA298895228 rs765016538	118	S>F		No	ClinGen ExAC TOPMed gnomAD
rs901125834 CA298895229	120	G>E		No	ClinGen TOPMed
CA8941256 rs371092594	120	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA402293472 rs1199009842	121	R>*		No	ClinGen gnomAD
COSM563300 rs374440269 CA8941257	121	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8941258 rs757152281	122	D>G		No	ClinGen ExAC gnomAD
CA8941259 rs548622593	124	R>I		No	ClinGen 1000Genomes ExAC gnomAD
rs548622593 CA402293512	124	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA298895230 rs369228650	126	A>V		No	ClinGen ESP TOPMed
CA8941261 rs768815930	127	L>V		No	ClinGen ExAC TOPMed gnomAD
CA298895232 rs952531768	131	K>T		No	ClinGen TOPMed
rs1402826353 CA402293614	133	I>V		No	ClinGen gnomAD
CA8941280 rs755019342	136	D>A		No	ClinGen ExAC gnomAD
CA402294145 rs1237751176	137	D>N		No	ClinGen gnomAD
rs779030938 CA8941281	141	V>A		No	ClinGen ExAC gnomAD
CA402294186 rs1180520927	142	H>P		No	ClinGen TOPMed gnomAD
CA8941282 rs748356671	142	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA402294185 rs1180520927	142	H>R		No	ClinGen TOPMed gnomAD
CA298896425 rs868723518	143	E>K		No	ClinGen Ensembl
CA298896426 rs772197820	145	V>I		No	ClinGen ExAC TOPMed gnomAD
rs772197820 CA8941283	145	V>L		No	ClinGen ExAC TOPMed gnomAD
CA402294218 rs1163966087	147	A>V		No	ClinGen gnomAD
CA8941284 rs778134560	148	E>G		No	ClinGen ExAC TOPMed gnomAD
CA402294263 rs1163432994	154	I>T		No	ClinGen gnomAD
rs771423423 CA8941286	155	K>E		No	ClinGen ExAC TOPMed gnomAD
CA402294275 rs1599452309	156	V>G		No	ClinGen Ensembl
CA8941287 rs777259181	156	V>L		No	ClinGen ExAC gnomAD
CA402294288 rs1447047402	158	A>V		No	ClinGen gnomAD
rs1332872582 CA402294304	161	D>H		No	ClinGen gnomAD
CA402294315 rs1291295637	162	Q>R		No	ClinGen TOPMed
CA8941288 rs760164338	166	N>S		No	ClinGen ExAC TOPMed gnomAD
rs769410407 CA8941289	167	Y>C		No	ClinGen ExAC gnomAD
rs559623432 CA8941290	168	I>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1323910875 CA402294358	168	I>V		No	ClinGen gnomAD
rs1394320218 CA402294363	169	L>I		No	ClinGen gnomAD
CA402294372 rs1462419555	170	R>K		No	ClinGen gnomAD
CA8941291 rs762597355	170	R>S		No	ClinGen ExAC gnomAD
rs751714168 CA8941322	171	A>G		No	ClinGen ExAC TOPMed gnomAD
rs757562148 CA8941323	172	L>F		No	ClinGen ExAC TOPMed gnomAD
CA402294933 rs1292450166	174	Q>H		No	ClinGen TOPMed
rs1402164551 CA402294937	175	I>V		No	ClinGen gnomAD
CA402294947 rs1402063285	176	M>I		No	ClinGen TOPMed
rs1029257928 CA298922023	176	M>T		No	ClinGen TOPMed gnomAD
rs781645381 CA8941324	177	L>F		No	ClinGen ExAC gnomAD
rs1568447985 CA402294987	182	M>T		No	ClinGen Ensembl
rs953784991 CA298922026	182	M>V		No	ClinGen TOPMed
CA402294998 rs1227187328	183	N>K		No	ClinGen Ensembl
rs746260376 CA8941325	185	V>I		No	ClinGen ExAC gnomAD
CA8941327 rs780677858	186	I>V		No	ClinGen ExAC gnomAD
rs143579901 CA8941328	188	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8941330 COSM988226 rs370403836	188	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA298922034 rs370403836	188	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143579901 CA8941329	188	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8941331 rs747688287	189	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8941332 rs771724997	191	T>I		No	ClinGen ExAC gnomAD
rs760492283 CA8941334	192	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1457484116 CA402295069	194	W>C		No	ClinGen TOPMed
rs80041832 CA298922042	196	Y>D		No	ClinGen Ensembl
CA8941337 rs147225084	197	T>I		No	ClinGen ESP ExAC gnomAD
CA402295086 rs147225084	197	T>N		No	ClinGen ESP ExAC gnomAD
rs1256431355 CA402295089	198	L>F		No	ClinGen TOPMed
rs1211910651 CA402295090	198	L>H		No	ClinGen TOPMed
rs751677131 CA8941339	199	I>T		No	ClinGen ExAC gnomAD
rs61735987 CA8941338	199	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8941340 rs757508646	200	G>R		No	ClinGen ExAC gnomAD
CA402295108 rs1437521682	201	S>*		No	ClinGen gnomAD
CA8941365 rs149572147 COSM1711213	204	R>C	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs755389941 CA402292577	204	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755389941 CA8941366	204	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8941367 rs779504055	205	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA8941368 rs753240721	206	V>M		No	ClinGen ExAC gnomAD
rs1402588334 CA402292603	209	T>A		No	ClinGen gnomAD
CA8941370 rs777319517	210	A>V		No	ClinGen ExAC TOPMed gnomAD
CA298926823 rs983377073	211	L>R		No	ClinGen Ensembl
rs1332131861 CA402292614	211	L>V		No	ClinGen gnomAD
rs1448670511 CA402292636	215	L>F		No	ClinGen gnomAD
rs551483382 CA8941373	216	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402292654 rs1568470122	218	V>I		No	ClinGen Ensembl
rs1258256233 CA402292664	219	E>G		No	ClinGen gnomAD
CA402292680 rs1319390461	221	S>L		No	ClinGen gnomAD
CA402292701 rs763044140	224	N>K		No	ClinGen ExAC TOPMed gnomAD
CA8941376 rs775478366	224	N>S		No	ClinGen ExAC gnomAD
COSM185643 CA8941378 rs144223411	225	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8941380 rs760922542	226	P>R		No	ClinGen ExAC TOPMed gnomAD
CA298926831 rs903340629	226	P>S		No	ClinGen TOPMed gnomAD
rs903340629 CA402292708	226	P>T		No	ClinGen TOPMed gnomAD
rs1477155172 CA402292712	227	L>I		No	ClinGen gnomAD
CA402292740 rs1568470291	231	A>T		No	ClinGen Ensembl
CA8941381 rs766647000	232	V>I		No	ClinGen ExAC TOPMed gnomAD
CA402292749 rs1376495970	233	T>S		No	ClinGen TOPMed
rs890712729 CA298926836	235	V>I		No	ClinGen TOPMed
CA8941382 rs148756251	236	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA402292776 rs765568380	237	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8941384 rs765568380	237	T>R		No	ClinGen ExAC TOPMed gnomAD
rs758967305 CA8941386	238	K>R		No	ClinGen ExAC gnomAD
CA402292792 rs1230600123	240	G>R		No	ClinGen gnomAD
CA402292819 rs1207994985	242	K>E		No	ClinGen TOPMed
CA298928866 rs764658348	242	K>I		No	ClinGen gnomAD
CA8941408 rs750087235	243	P>H		No	ClinGen ExAC gnomAD
rs750087235 CA402292827	243	P>L		No	ClinGen ExAC gnomAD
rs766997171 CA402292826	243	P>S		No	ClinGen ExAC TOPMed gnomAD
rs766997171 CA8941407	243	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8941409 rs755728970	244	W>*		No	ClinGen ExAC TOPMed
CA298928872 rs755728970	244	W>L		No	ClinGen ExAC TOPMed
CA8941411 rs368891038	247	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1234502927 CA402292858	248	M>V		No	ClinGen TOPMed
rs1372215414 CA402292872	249	E>D		No	ClinGen TOPMed
rs1328735738 CA402292894	253	E>*		No	ClinGen gnomAD
rs776638745 CA8941417	254	K>R		No	ClinGen ExAC gnomAD
rs1568481393 CA402292921	256	G>E		No	ClinGen Ensembl
rs746033370 CA8941418	257	V>D		No	ClinGen ExAC gnomAD
rs1309741206 CA402292923	257	V>L		No	ClinGen gnomAD
CA8941419 rs770013602	259	T>M		No	ClinGen ExAC TOPMed gnomAD
rs763277567 CA402292948	261	L>I		No	ClinGen ExAC TOPMed gnomAD
rs774829328 CA8941423	263	V>A		No	ClinGen ExAC gnomAD
rs1599833897 CA402292971	265	A>P		No	ClinGen Ensembl
rs1177741466 CA402292977	266	M>L		No	ClinGen gnomAD
CA402292982 rs1599833932	266	M>R		No	ClinGen Ensembl
rs1177741466 CA402292978	266	M>V		No	ClinGen gnomAD
CA8941424 rs375099605	268	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs772478823 COSM1729637 CA8941442	272	T>M	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA402293040 rs1377682605	273	L>S		No	ClinGen gnomAD
CA402293049 rs1297832747	274	S>L		No	ClinGen gnomAD
rs760231456 CA8941444	275	G>R		No	ClinGen ExAC TOPMed gnomAD
rs978486483 CA402293055	276	L>I		No	ClinGen gnomAD
rs924000303 CA298931091	278	D>E		No	ClinGen Ensembl
CA402293068 rs1311630611	278	D>H		No	ClinGen gnomAD
rs1232486078 CA402293073	279	Q>K		No	ClinGen gnomAD
CA8941446 rs753526587	280	D>E		No	ClinGen ExAC TOPMed gnomAD
COSM988228 rs146804885 CA8941448	284	D>N	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA298931097 rs377180775	284	D>V		No	ClinGen ESP
rs200811037 CA8941450	285	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs978135845 CA298931105	286	V>A		No	ClinGen TOPMed
CA402293121 rs751568896	286	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8941452 rs751568896	286	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1432049336 CA402293135	288	C>G		No	ClinGen gnomAD
CA402293167 rs1174816975	293	G>S		No	ClinGen TOPMed gnomAD
CA8941454 rs780177528	295	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402293187 rs1361546382	296	A>P		No	ClinGen gnomAD
CA8941455 rs370638263	297	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs916381718 CA402293216	300	R>S		No	ClinGen gnomAD
CA402293221 rs1387371260	301	H>R		No	ClinGen gnomAD
rs374295739 CA8941457	304	K>E		No	ClinGen ESP ExAC
CA8941458 rs748493835	306	G>E		No	ClinGen ExAC gnomAD
rs773570148 CA402293264	307	T>I		No	ClinGen ExAC gnomAD
rs773570148 CA8941461	307	T>S		No	ClinGen ExAC gnomAD
CA8941463 rs770559364	310	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1231526081 CA402293291	311	L>F		No	ClinGen TOPMed gnomAD
CA402293315 rs759204801	315	L>F		No	ClinGen ExAC TOPMed
CA8941465 rs759204801	315	L>I		No	ClinGen ExAC TOPMed
rs764814944 CA8941466	315	L>P		No	ClinGen ExAC TOPMed gnomAD
rs764814944 CA402293317	315	L>R		No	ClinGen ExAC TOPMed gnomAD
CA8941467 rs533100172	316	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA402293328 rs1158523111	317	I>S		No	ClinGen gnomAD
rs571359036 CA8941492	320	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8941493 rs752857554	321	A>V		No	ClinGen ExAC TOPMed gnomAD
rs201237691 CA8941496	324	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402293429 rs1273097136	325	E>K		No	ClinGen gnomAD
CA8941499 rs746438278 COSM260945	328	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8941500 rs769184978	329	E>K		No	ClinGen ExAC gnomAD
rs775074925 CA8941501	330	T>N		No	ClinGen ExAC TOPMed gnomAD
rs200338370 CA8941502	331	T>M		No	ClinGen ExAC TOPMed gnomAD
rs774092205 CA8941504	332	E>G		No	ClinGen ExAC TOPMed gnomAD
rs767351175 CA8941506	333	P>L		No	ClinGen ExAC TOPMed gnomAD
rs761567244 CA8941505	333	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1028485249 CA298939936	334	P>S		No	ClinGen TOPMed gnomAD
rs117005081 CA8941510	335	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117005081 CA402293588	335	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117005081 CA8941509	335	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs908818997 CA298939937	336	S>R		No	ClinGen TOPMed gnomAD
rs368210942 CA8941513	337	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941512 rs145455632	337	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA298939938 rs368210942	337	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941516 rs545624410	339	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8941515 COSM1611218 rs545624410	339	R>Q	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA8941514 rs199822186	339	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1278452604 CA402293667	340	D>E		No	ClinGen gnomAD
CA298939939 rs998852979	340	D>G		No	ClinGen Ensembl
rs574004851 CA8941518	341	R>G		No	ClinGen ExAC TOPMed gnomAD
rs779383407 CA8941519	341	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs574004851 CA8941517	341	R>W		No	ClinGen ExAC TOPMed gnomAD
CA402293690 rs1448915711	344	A>T		No	ClinGen TOPMed
rs146957872 CA8941523	346	V>M		No	ClinGen ESP ExAC gnomAD
CA402293742 rs1477044620	350	G>A		No	ClinGen gnomAD
rs968141468 CA298939940	350	G>C		No	ClinGen TOPMed
rs760471234 CA8941526	351	G>R		No	ClinGen ExAC gnomAD
rs1171314879 CA402293760	353	E>K		No	ClinGen TOPMed gnomAD
rs763055774 CA8941529	354	H>P		No	ClinGen ExAC gnomAD
CA402293776 rs1358370867	354	H>Q		No	ClinGen gnomAD
rs561334570 CA402293778	355	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561334570 COSM1611219 CA8941530	355	R>Q	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs960627486 CA298939942 COSM272693	355	R>W	liver large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs762133189 CA8941532	356	G>A		No	ClinGen ExAC gnomAD
CA8941531 rs751831068	356	G>S		No	ClinGen ExAC TOPMed gnomAD
rs145926464 CA8941533	359	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3717899 rs750825580 CA8941534	359	R>H	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA402293810 rs750825580	359	R>P		No	ClinGen ExAC TOPMed gnomAD
CA402293807 rs145926464	359	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941538 rs780578862	363	R>C		No	ClinGen ExAC gnomAD
rs754354392 CA8941539	363	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754354392 CA298939943	363	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8941540 rs754472369	365	H>R		No	ClinGen ExAC TOPMed gnomAD
CA8941542 rs747730516 COSM1207126	366	S>L	oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA402293868 rs1599930869	367	V>G		No	ClinGen Ensembl
CA8941544 rs777494766	367	V>M		No	ClinGen ExAC gnomAD
CA8941546 rs770668539	371	K>R		No	ClinGen ExAC gnomAD
rs759447091 CA8941548	373	T>S		No	ClinGen ExAC gnomAD
rs1324678685 CA402293926	374	L>P		No	ClinGen gnomAD
CA8941550 rs774589540	375	S>L		No	ClinGen ExAC TOPMed gnomAD
CA402293940 rs1307627112	376	A>S		No	ClinGen gnomAD
rs767883864 CA8941552	377	P>L		No	ClinGen ExAC gnomAD
CA8941553 rs201622588	379	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8941554 rs761081168	380	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8941555 rs546991789	380	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402293973 rs761081168	380	P>S		No	ClinGen ExAC TOPMed gnomAD
CA402293972 rs761081168	380	P>T		No	ClinGen ExAC TOPMed gnomAD
rs754364239 CA402293985	381	C>W		No	ClinGen ExAC gnomAD
CA402294001 rs1215488825	383	Q>H		No	ClinGen gnomAD
rs755479077 CA8941557	383	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs752224880 CA8941559	386	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8941561 rs777446668	389	K>*		No	ClinGen ExAC gnomAD
CA8941562 rs746687054	389	K>N		No	ClinGen ExAC gnomAD
rs1213606565 CA402294056	390	P>R		No	ClinGen TOPMed gnomAD
rs757057948 CA8941563	391	N>S		No	ClinGen ExAC gnomAD
CA298939945 rs943103824	392	Q>H		No	ClinGen TOPMed
CA8941565 rs376015995	394	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8941566 rs528362925	394	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551610601 CA8941568	395	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA8941569 rs772327566	396	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1342093758 CA402294100	396	L>V		No	ClinGen Ensembl
CA8941571 rs760874847	397	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8941572 rs141344928	397	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA402294105 rs760874847	397	R>S		No	ClinGen ExAC TOPMed gnomAD
rs150626381 CA8941635	400	Y>H		No	ClinGen ESP ExAC gnomAD
rs1451856618 CA402209275	401	S>T		No	ClinGen gnomAD
CA402209299 rs1288417184	402	N>S		No	ClinGen gnomAD
CA8941636 rs138727664	405	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA402209423 rs1299656803	407	S>C		No	ClinGen gnomAD
CA402209424 rs1299656803	407	S>F		No	ClinGen gnomAD
rs1343357972 CA402209486	410	S>P		No	ClinGen TOPMed
CA8941640 rs200702049	410	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402209555 rs1600117333	413	P>A		No	ClinGen Ensembl
CA298656851 rs909146825	413	P>L		No	ClinGen TOPMed
CA8941642 rs759230327	416	G>V		No	ClinGen ExAC gnomAD
CA402209669 rs199885700	418	S>G		No	ClinGen 1000Genomes TOPMed
CA298656857 rs199885700	418	S>R		No	ClinGen 1000Genomes TOPMed
rs1211144968 CA402209703	419	V>E		No	ClinGen TOPMed gnomAD
rs1464905314 CA402209696	419	V>M		No	ClinGen gnomAD
CA8941645 rs140934653	420	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8941644 rs140934653	420	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1031496719 CA402209723	421	T>A		No	ClinGen TOPMed gnomAD
rs1031496719 CA298656863	421	T>P		No	ClinGen TOPMed gnomAD
rs1458938674 CA402209827	426	S>P		No	ClinGen TOPMed gnomAD
CA402209834 rs1323967550	426	S>Y		No	ClinGen gnomAD
rs755293878 CA8941652	427	V>D		No	ClinGen ExAC TOPMed gnomAD
CA8941651 rs544989871	427	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8941654 rs748547151	428	S>L		No	ClinGen ExAC TOPMed gnomAD
rs144428734 CA8941653	428	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA298656944 rs762726067	429	P>H		No	ClinGen Ensembl
CA298656937 rs968294120	429	P>S		No	ClinGen Ensembl
rs144334799 CA402209895	430	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144334799 CA298656962	430	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144334799 CA8941655	430	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772806539 CA8941657	431	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA8941656 rs772806539	431	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA8941658 rs772806539	431	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs776130766 CA8941659	432	E>D		No	ClinGen ExAC gnomAD
rs1334818579 CA402209943	433	A>D		No	ClinGen gnomAD
rs374842436 CA8941660	434	R>G		No	ClinGen ExAC gnomAD
rs1479827950 CA402209983	437	R>K		No	ClinGen gnomAD
rs199579476 CA8941679	440	P>L		No	ClinGen ExAC TOPMed gnomAD
rs199579476 CA402215709	440	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA402215704 rs1275765469	440	P>S		No	ClinGen gnomAD
rs775047283 CA8941682	442	G>A		No	ClinGen ExAC TOPMed gnomAD
rs775047283 CA8941681	442	G>D		No	ClinGen ExAC TOPMed gnomAD
rs372938962 CA8941683	445	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA402215830 rs1417524653	446	S>L		No	ClinGen gnomAD
CA298671737 rs909335271	447	S>F		No	ClinGen TOPMed
rs1386739193 CA402215856	448	F>S		No	ClinGen TOPMed
rs550295372 CA8941686	448	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1310627963 CA402215909	452	Q>*		No	ClinGen gnomAD
CA298671787 rs201006691	453	E>A		No	ClinGen 1000Genomes
rs759635243 CA8941688	454	S>P		No	ClinGen ExAC TOPMed gnomAD
rs765465359 CA8941689	456	A>V		No	ClinGen ExAC gnomAD
CA402215952 rs1360544654	457	A>T		No	ClinGen gnomAD
rs753014109 CA8941691	457	A>V		No	ClinGen ExAC
RCV000890941 rs151313792 CA8941694	462	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758818742 CA8941692	462	R>W		No	ClinGen ExAC TOPMed gnomAD
rs780516974 CA8941696	463	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs141148037 CA8941695	463	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769238069 CA8941698	464	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1600219875 CA402216034	465	E>G		No	ClinGen Ensembl
rs1600219905 CA402216041	466	R>G		No	ClinGen Ensembl
CA8941700 rs370344363	466	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA402216051 rs1474398991	467	E>K		No	ClinGen gnomAD
rs768377913 CA8941701	468	E>G		No	ClinGen ExAC gnomAD
CA402216074 rs1390566724	469	R>K		No	ClinGen gnomAD
CA402216077 rs1390566724	469	R>M		No	ClinGen gnomAD
rs774149210 CA8941702	469	R>S		No	ClinGen ExAC gnomAD
CA402216081 rs1600219981	470	L>V		No	ClinGen Ensembl
CA298671914 rs200278646	474	E>A		No	ClinGen 1000Genomes
CA8941704 rs772079874	474	E>D		No	ClinGen ExAC TOPMed gnomAD
rs781419029 CA8941706	475	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs9964535 VAR_055804 CA8941705	475	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs142042172 COSM988231 CA8941707	478	R>I	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs752959012 CA8941708	479	N>D		No	ClinGen ExAC gnomAD
rs368544178 CA298671939	479	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941709 rs763272073	479	N>S		No	ClinGen ExAC gnomAD
rs751992485 CA8941711	480	K>E		No	ClinGen ExAC gnomAD
rs751992485 CA298671948	480	K>Q		No	ClinGen ExAC gnomAD
rs1346043653 CA402216205	481	F>S		No	ClinGen gnomAD
CA298671949 rs202238556	482	R>I		No	ClinGen 1000Genomes
rs1471175141 CA402218569	488	Q>K		No	ClinGen TOPMed
rs375328772 CA8941765	491	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941766 rs781263077	491	A>V		No	ClinGen ExAC gnomAD
rs1465713940 CA402218600	492	E>D		No	ClinGen gnomAD
CA8941768 rs138585180	494	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1208448971 CA402218621	495	E>D		No	ClinGen TOPMed
rs778872098 CA8941769	495	E>K		No	ClinGen ExAC TOPMed gnomAD
rs778872098 CA298682468	495	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8941770 rs748357762	497	E>K		No	ClinGen ExAC gnomAD
rs772218157 CA8941771	497	E>V		No	ClinGen ExAC gnomAD
CA8941773 rs768295559	498	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA298682504 rs993043667	499	R>G		No	ClinGen Ensembl
CA8941775 rs533572045	501	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148866621 COSM3772561 CA8941776	501	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8941774 rs533572045	501	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8941777 rs764664781	502	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8941779 rs752170663	503	V>L		No	ClinGen ExAC TOPMed gnomAD
rs752170663 CA8941778	503	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8941781 rs553341694	505	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763622401 COSM3422163 CA8941780	505	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA402218699 rs1600269047	509	D>A		No	ClinGen Ensembl
rs371328026 CA402218698	509	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371328026 CA298682638	509	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs371328026 CA8941784	509	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600269072 CA402218726	513	D>A		No	ClinGen Ensembl
rs756143998 CA8941785	514	L>P		No	ClinGen ExAC TOPMed gnomAD
rs756143998 CA402218734	514	L>R		No	ClinGen ExAC TOPMed gnomAD
CA402218740 rs1379462884	515	T>I		No	ClinGen gnomAD
CA402218735 rs1600269122	515	T>P		No	ClinGen Ensembl
rs748150318 CA8941787 COSM50456	516	S>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA402218751 rs1473119944	517	P>L		No	ClinGen TOPMed
rs61735993 CA8941789	518	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1301612256 CA402218760	519	A>D		No	ClinGen gnomAD
rs1385885407 CA402218758	519	A>S		No	ClinGen TOPMed gnomAD
rs377593658 CA298682711	520	P>A		No	ClinGen ESP TOPMed
CA402218779 rs1226081460	522	C>F		No	ClinGen gnomAD
CA402218807 rs1283012295	527	S>N		No	ClinGen TOPMed
rs374836945 CA402218823	529	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA298682754 rs374836945	529	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941795 rs766481778	529	S>R		No	ClinGen ExAC TOPMed gnomAD
rs374836945 CA8941794	529	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000953071 CA8941796 rs7238035	530	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763729178 CA8941797	531	S>L		No	ClinGen ExAC
rs766445354 CA298682806	531	S>T		No	ClinGen Ensembl
rs1471717348 CA402218863	536	Q>P		No	ClinGen gnomAD
rs1434612459 CA402218877	538	A>P		No	ClinGen gnomAD
rs1274446108 CA402218880	538	A>V		No	ClinGen gnomAD
CA8941801 rs527769846	540	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8941803 rs372396096	541	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317903576 CA402218909	543	A>V		No	ClinGen TOPMed gnomAD
rs753874707 CA8941804	544	S>A		No	ClinGen ExAC gnomAD
CA8941806 rs777911547	545	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1369344035 CA402218931	547	G>E		No	ClinGen gnomAD
CA402218935 rs1407564770	548	T>N		No	ClinGen TOPMed gnomAD
CA8941807 rs376385732	549	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA402218945 rs1230788632	550	H>Y		No	ClinGen gnomAD
CA298682880 rs781496146	551	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1263736235 CA402218961	551	H>Y		No	ClinGen Ensembl
CA402218979 rs1267585670	552	P>L		No	ClinGen TOPMed gnomAD
CA298682912 rs1000131047	552	P>S		No	ClinGen gnomAD
rs1198990191 CA402218998	554	A>P		No	ClinGen TOPMed
CA8941824 rs751668460	555	S>C		No	ClinGen ExAC gnomAD
CA298697631 rs199567532	556	A>S		No	ClinGen 1000Genomes gnomAD
rs757367072 CA8941825	556	A>V		No	ClinGen ExAC
CA402221793 rs746145023	557	G>R		No	ClinGen ExAC gnomAD
rs746145023 CA8941827	557	G>R		No	ClinGen ExAC gnomAD
COSM1252436 CA402221794 rs746145023	557	G>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA402221809 rs1350745536	558	D>N		No	ClinGen gnomAD
CA298697645 rs905216371	558	D>V		No	ClinGen TOPMed gnomAD
CA8941831 rs139884505	562	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139884505 CA402221882	562	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149817279 CA8941832	563	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941833 rs747643926	564	E>K		No	ClinGen ExAC gnomAD
CA402221936 rs1439842952	565	A>V		No	ClinGen TOPMed
rs771767630 CA8941834	566	E>K		No	ClinGen ExAC gnomAD
CA8941835 rs144847554	567	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144847554 CA402221979	567	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA298697701 rs1051163829	567	P>T		No	ClinGen TOPMed
CA402221992 rs1401164540	568	E>K		No	ClinGen gnomAD
rs571190184 CA402222083	573	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8941837 rs571190184	573	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1363631991 CA402222099	574	G>A		No	ClinGen gnomAD
CA402222102 rs1363631991	574	G>V		No	ClinGen gnomAD
rs1339334317 COSM332309 CA402222093	574	G>W	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1298768403 CA402222105	575	Q>E		No	ClinGen gnomAD
CA8941839 rs759348974	576	V>G		No	ClinGen ExAC gnomAD
CA298697738 rs369656706	577	A>D		No	ClinGen ESP TOPMed
CA8941840 rs765189794	579	E>V		No	ClinGen ExAC gnomAD
rs752680512 CA8941841	581	G>D		No	ClinGen ExAC gnomAD
CA8941842 rs761865941	582	Q>*		No	ClinGen ExAC gnomAD
CA8941843 rs61735994	582	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750588369 CA8941844	583	D>G		No	ClinGen ExAC gnomAD
CA298697769 rs1028556081	584	I>L		No	ClinGen TOPMed
rs756383713 CA402222272	588	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA402222269 rs1463468719	588	H>R		No	ClinGen gnomAD
rs373252776 CA298697830	589	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs373252776 CA8941846 COSM1189681	589	E>K	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA402222300 rs754200767	591	A>S		No	ClinGen ExAC TOPMed gnomAD
rs754200767 CA8941847	591	A>T		No	ClinGen ExAC TOPMed gnomAD
rs968085780 CA298697838	593	T>S		No	ClinGen TOPMed
rs779554406 CA8941849	595	V>M		No	ClinGen ExAC gnomAD
rs983774011 CA298697869	597	Q>E		No	ClinGen TOPMed
CA8941852 rs777433168	598	A>P		No	ClinGen ExAC gnomAD
CA402222685 rs1435993334	602	E>K		No	ClinGen TOPMed
CA8941856 rs200191001	603	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1345972050 CA402222716	606	R>K		No	ClinGen gnomAD
CA402222724 rs1266296284	607	A>G		No	ClinGen gnomAD
rs201034295 CA8941859	607	A>T		No	ClinGen ExAC TOPMed gnomAD
CA298697952 rs991984267	608	S>Y		No	ClinGen Ensembl
rs1327028661 CA402222732	609	L>V		No	ClinGen TOPMed gnomAD
rs760689524 CA298697954	611	E>D		No	ClinGen Ensembl
CA402222786 rs1486723696	616	N>T		No	ClinGen TOPMed
rs1044726015 CA298697994	617	E>K		No	ClinGen TOPMed gnomAD
rs1044726015 CA402222792	617	E>Q		No	ClinGen TOPMed gnomAD
CA402222799 rs1568645677	618	G>R		No	ClinGen Ensembl
CA8941861 rs750548010	619	V>E		No	ClinGen ExAC gnomAD
rs780155092 CA298698045	621	E>D		No	ClinGen ExAC gnomAD
rs1053750729 COSM185690 CA298698028	621	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA402222830 rs1349524516	623	D>N		No	ClinGen TOPMed
CA8941867 rs753194188	626	S>F		No	ClinGen ExAC gnomAD
rs1387763450 CA402222861	627	A>P		No	ClinGen gnomAD
CA402222877 rs764039558	629	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8941869 rs61735998	630	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61735998 CA402222879	630	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200136691 CA298698107	631	S>L		No	ClinGen TOPMed
CA402222884 rs1331953481	631	S>T		No	ClinGen gnomAD
rs1339299820 CA402222896	633	S>P		No	ClinGen gnomAD
CA402222911 rs1349882045	635	S>G		No	ClinGen gnomAD
CA8941873 rs186506465	636	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA298698109 rs186506465	636	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768552095 CA8941877	638	E>V		No	ClinGen ExAC gnomAD
rs151157762 CA8941878	639	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1451852171 CA402222941	640	E>K		No	ClinGen gnomAD
rs1472012953 CA402222958	642	K>E		No	ClinGen gnomAD
rs760798366 CA8941880	643	E>A		No	ClinGen ExAC gnomAD
rs766437892 CA8941881	644	D>N		No	ClinGen ExAC gnomAD
rs892638487 CA298698153	646	L>F		No	ClinGen Ensembl
rs1472085775 CA402223034	648	R>G		No	ClinGen TOPMed gnomAD
CA402223064 rs1163069529	650	R>K		No	ClinGen gnomAD
CA402223070 rs1391860261	650	R>S		No	ClinGen TOPMed gnomAD
CA402223072 rs1391860261	650	R>S		No	ClinGen TOPMed gnomAD
CA8941882 rs776850658	652	T>I		No	ClinGen ExAC gnomAD
rs541250101 CA8941883	653	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1341052819 CA402211263	653	G>D		No	ClinGen gnomAD
CA8941901 rs765522220	654	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1342191795 CA402211314	655	W>*		No	ClinGen gnomAD
CA8941903 rs763395254	655	W>C		No	ClinGen ExAC TOPMed gnomAD
CA8941904 rs764431004	656	P>S		No	ClinGen ExAC TOPMed gnomAD
rs757717851 CA8941906	657	A>T		No	ClinGen ExAC gnomAD
CA8941907 rs767014890	658	G>D		No	ClinGen ExAC TOPMed gnomAD
CA402211420 rs1172727181	659	V>F		No	ClinGen gnomAD
CA402211432 rs1375777733	660	Q>R		No	ClinGen gnomAD
CA402211460 rs1600392739	664	V>A		No	ClinGen Ensembl
CA402211485 rs1166783544	668	C>R		No	ClinGen TOPMed
rs544119818 CA8941911	670	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1454466654 CA402211512	672	L>I		No	ClinGen gnomAD
rs749010433 CA8941912	674	N>S		No	ClinGen ExAC gnomAD
CA402211535 rs1199832153	675	K>R		No	ClinGen gnomAD
CA8941914 rs778589963	676	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8941913 rs377466268	676	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941915 rs748073769	679	L>F		No	ClinGen ExAC gnomAD
CA8941916 rs371457682	681	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941917 rs371457682	681	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941919 rs770054401	684	A>T		No	ClinGen ExAC gnomAD
rs1247424901 CA402211597	685	H>N		No	ClinGen TOPMed
rs1462719818 CA402211612	686	N>K		No	ClinGen gnomAD
rs763272130 CA8941921	688	K>M		No	ClinGen ExAC gnomAD
rs769006502 CA8941922	689	S>P		No	ClinGen ExAC gnomAD
CA8941923 rs774611476	690	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1200258812 CA402211643	691	D>E		No	ClinGen gnomAD
rs750988072 CA8941926	693	E>K		No	ClinGen ExAC gnomAD
rs1367381269 CA402211660	694	E>K		No	ClinGen TOPMed
rs374688382 CA8941927	696	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374688382 CA8941928	696	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1454152905 CA402211683	697	D>G		No	ClinGen gnomAD
CA8941929 rs753435264	698	G>R		No	ClinGen ExAC gnomAD
rs754612317 CA8941930	701	G>E		No	ClinGen ExAC gnomAD
CA402211708 rs1376319535	701	G>R		No	ClinGen gnomAD
CA402211720 rs1346784828	703	T>A		No	ClinGen TOPMed gnomAD
rs1456198804 CA402211722	703	T>N		No	ClinGen TOPMed
CA402211719 rs1346784828	703	T>P		No	ClinGen TOPMed gnomAD
CA402211721 rs1346784828	703	T>S		No	ClinGen TOPMed gnomAD
CA298654039 rs188731619	705	Q>K		No	ClinGen 1000Genomes
CA8941932 rs752399381	707	A>V		No	ClinGen ExAC TOPMed gnomAD
rs146524905 CA298654043	709	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs146524905 CA8941933	709	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA298654051 rs79013230	710	V>G		No	ClinGen Ensembl
COSM988236 rs747008430 CA8941935	710	V>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs894656081 CA298654052	711	A>V		No	ClinGen TOPMed gnomAD
rs991129743 CA298654057	715	T>A		No	ClinGen Ensembl
rs1254168808 CA402211798	715	T>I		No	ClinGen TOPMed
rs1043314255 CA298654065	716	R>G		No	ClinGen TOPMed gnomAD
CA298654071 rs903470087	717	I>V		No	ClinGen TOPMed
rs780295290 CA8941937	719	T>N		No	ClinGen ExAC gnomAD
rs768730922 CA8941939	721	Q>K		No	ClinGen ExAC gnomAD
CA402211830 rs1161055612	721	Q>R		No	ClinGen gnomAD
rs774684499 CA8941940	722	A>G		No	ClinGen ExAC TOPMed gnomAD
CA402211848 rs1328734133	723	N>S		No	ClinGen gnomAD
CA298654082 rs1029983582	724	S>A		No	ClinGen TOPMed gnomAD
rs762073199 CA8941941	725	Q>R		No	ClinGen ExAC gnomAD
CA402211887 rs762835524	726	T>N		No	ClinGen gnomAD
CA298654103 rs762835524	726	T>S		No	ClinGen gnomAD
CA8941942 rs561221195	728	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402211916 rs1374725771	728	D>V		No	ClinGen gnomAD
CA8941943 rs773646639	729	E>Q		No	ClinGen ExAC
rs761187077 CA8941944	730	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8941945 rs765831058	732	R>S		No	ClinGen ExAC gnomAD
rs369684929 CA8941946	736	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3959169 CA8941948 rs764770035	737	G>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1036438895 CA298654141	738	C>R		No	ClinGen gnomAD
CA402212135 rs752449314	738	C>S		No	ClinGen ExAC gnomAD
rs752449314 CA8941949	738	C>Y		No	ClinGen ExAC gnomAD
rs373600666 CA402212227	740	D>E		No	ClinGen ESP gnomAD
CA402212255 rs1411514578	741	N>K		No	ClinGen TOPMed gnomAD
rs370852733 CA8941950	741	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941951 rs373880183	742	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941953 rs757282023	742	R>Q		No	ClinGen ExAC gnomAD
CA8941952 rs373880183	742	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA402212299 rs1386759431	743	G>S		No	ClinGen gnomAD
rs781319592 CA8941954	744	S>T		No	ClinGen ExAC gnomAD
rs1354551398 CA402212363	745	V>M		No	ClinGen gnomAD
rs141108688 CA8941956	746	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA402212411 rs1301670842	747	A>P		No	ClinGen gnomAD
CA8941957 COSM1189682 rs779000457	750	E>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8941958 rs145658831	751	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA402212582 rs1431830174	752	F>L		No	ClinGen TOPMed
rs1267150343 CA402212600	753	N>S		No	ClinGen TOPMed
CA402212629 rs1257533078	754	S>G		No	ClinGen gnomAD
CA298654199 rs950727997	754	S>R		No	ClinGen TOPMed gnomAD
CA402212645 rs1317546979	754	S>T		No	ClinGen gnomAD
CA8941959 rs772366943	755	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8941960 rs773593596	756	D>A		No	ClinGen ExAC gnomAD
rs1600394364 CA402212682	756	D>N		No	ClinGen Ensembl
CA8941961 rs747477675	757	L>V		No	ClinGen ExAC TOPMed gnomAD
rs959999549 CA298654222	758	G>E		No	ClinGen TOPMed
CA298654221 rs928636783	758	G>W		No	ClinGen TOPMed
rs771392080 CA8941962	759	R>I		No	ClinGen ExAC gnomAD
rs529974673 CA8941964	762	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402212874 rs1460800215	762	I>T		No	ClinGen gnomAD
CA8941963 rs529974673	762	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8941966 rs549368904	763	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1447289233 CA402212914	763	S>Y		No	ClinGen gnomAD
CA402212987 rs1419777101	765	D>E		No	ClinGen gnomAD
CA402212979 rs1166901383	765	D>G		No	ClinGen gnomAD
CA402212956 rs1307506444	765	D>N		No	ClinGen TOPMed
rs138220175 CA8941967	766	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941968 rs557679911	768	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8941969 rs371750634	769	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs767550055 CA8941971	771	K>E		No	ClinGen ExAC gnomAD
CA402213196 rs1430443269	771	K>N		No	ClinGen gnomAD
CA8941972 rs199890387	771	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs754948359 CA8941973	772	V>F		No	ClinGen ExAC TOPMed gnomAD
CA298654262 rs367807699	772	V>G		No	ClinGen ESP
COSM170245 CA8941974 rs754948359	772	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1600394763 CA402213268	774	E>G		No	ClinGen Ensembl
rs748272987 CA8941975	774	E>K		No	ClinGen ExAC gnomAD
CA8941977 rs372680469	776	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771338841 CA8941979 COSM1388612	777	P>L	large_intestine breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8941981 rs551904999	780	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA298654296 rs551904999	780	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551904999 CA8941982	780	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1188978576 CA402213423	782	T>A		No	ClinGen gnomAD
rs1427905886 CA402213450	783	E>A		No	ClinGen gnomAD
CA8941984 rs762471951	784	S>P		No	ClinGen ExAC gnomAD
rs1026588182 CA298654334	785	D>A		No	ClinGen TOPMed
CA402213541 rs1387084576	786	Y>H		No	ClinGen gnomAD
rs763816763 CA402213653	790	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs763816763 CA8941985	790	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA402213680 rs1348340324	790	Q>R		No	ClinGen TOPMed
CA8941987 rs761697737	796	R>G		No	ClinGen ExAC TOPMed gnomAD
CA402213920 rs1415058761	797	E>K		No	ClinGen TOPMed
rs374060543 CA8941988	799	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8941989 rs750273575	800	I>T		No	ClinGen ExAC gnomAD
rs1346170227 CA402214069	801	Q>H		No	ClinGen TOPMed gnomAD
CA8941990 rs756103507	802	D>N		No	ClinGen ExAC TOPMed gnomAD
CA402214119 COSM709594 rs1348419097	803	M>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs765195457 CA8941991	803	M>V		No	ClinGen ExAC gnomAD
rs752794648 CA8941992	807	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1204388807 CA402214194	807	D>N		No	ClinGen gnomAD
CA8941993 rs571696890	809	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs202061844 CA8941994	810	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1480515228 CA402214321	812	D>V		No	ClinGen gnomAD
CA8941996 rs751843910	814	I>L		No	ClinGen ExAC gnomAD
CA8941998 rs781629126	814	I>M		No	ClinGen ExAC TOPMed
CA8941995 rs751843910	814	I>V		No	ClinGen ExAC gnomAD
rs1410458652 CA402214433	819	V>M		No	ClinGen gnomAD
rs1410536277 CA402214487	823	H>D		No	ClinGen gnomAD
rs770364602 CA8942000	824	R>M		No	ClinGen ExAC gnomAD
CA8942001 rs780465742	824	R>S		No	ClinGen ExAC gnomAD
rs1366426648 CA402214546	826	A>V		No	ClinGen gnomAD
rs1333935514 CA402214594	829	P>L		No	ClinGen gnomAD
CA402214604 rs1238156434	830	P>T		No	ClinGen gnomAD
CA402214623 rs1279934388	831	P>S		No	ClinGen gnomAD
CA402214637 rs748794732	832	P>A		No	ClinGen ExAC gnomAD
rs1185511062 CA402214642	832	P>Q		No	ClinGen TOPMed
COSM224540 CA8942005 rs748794732	832	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA402214650 rs1290629007	833	P>T		No	ClinGen gnomAD
rs774082158 CA8942010	834	P>A		No	ClinGen ExAC gnomAD
CA8942012 rs761572972	834	P>L		No	ClinGen ExAC
CA8942015 rs773093917	836	T>P		No	ClinGen ExAC TOPMed gnomAD
rs766322180 CA402214718	837	F>C		No	ClinGen ExAC gnomAD
CA8942018 rs760430460	837	F>L		No	ClinGen ExAC gnomAD
rs766322180 CA8942019	837	F>S		No	ClinGen ExAC gnomAD
CA402214734 rs1163309409	838	L>R		No	ClinGen gnomAD
rs1386152376 CA402214739	839	G>C		No	ClinGen gnomAD
rs1426737061 CA402214747	839	G>V		No	ClinGen TOPMed gnomAD
CA402214764 rs1395786860	840	L>F		No	ClinGen gnomAD
CA402214762 rs1395786860	840	L>F		No	ClinGen gnomAD
CA8942023 rs537641087	841	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402214817 rs1568664945	843	P>L		No	ClinGen Ensembl
rs751719624 CA8942025	843	P>S		No	ClinGen ExAC gnomAD
rs1247633383 CA402214843	844	P>L		No	ClinGen gnomAD
CA402214849 rs199955061	845	P>A		No	ClinGen 1000Genomes gnomAD
rs1338250838 CA402214857	845	P>L		No	ClinGen gnomAD
CA298654532 rs199955061	845	P>S		No	ClinGen 1000Genomes gnomAD
rs567922320 CA8942030	846	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1253336673 CA402214874	846	P>S		No	ClinGen gnomAD
rs1244051101 CA402214917	848	L>P		No	ClinGen gnomAD
rs768225243 CA8942033	850	D>A		No	ClinGen ExAC gnomAD
CA402214960 rs768225243	850	D>G		No	ClinGen ExAC gnomAD
rs1462595840 CA402214981	851	S>C		No	ClinGen TOPMed gnomAD
rs971074535 CA402214985	851	S>N		No	ClinGen TOPMed
rs971074535 CA298654549	851	S>T		No	ClinGen TOPMed
rs778590885 CA8942034	852	I>F		No	ClinGen ExAC gnomAD
CA298654556 rs982347747	853	P>L		No	ClinGen Ensembl
rs1398574122 CA402215034	853	P>T		No	ClinGen gnomAD
CA402215070 rs1335846396	854	P>L		No	ClinGen TOPMed gnomAD
CA402215069 COSM116726 rs1335846396	854	P>R	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8942037 rs572508966	855	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8942038 COSM988240 rs760500987	855	P>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA402215085 rs760500987	855	P>L		No	ClinGen ExAC TOPMed gnomAD
CA402215077 rs572508966	855	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs867972764 CA298654581	856	P>S		No	ClinGen Ensembl
rs141541132 CA8942040	857	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1600396915 CA402215148	859	G>R		No	ClinGen Ensembl
rs764109970 CA8942042	862	L>F		No	ClinGen ExAC gnomAD
rs1462970284 CA402215277	865	P>L		No	ClinGen gnomAD
rs575280361 CA8942043	865	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8942044 rs372094507	866	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA402215285 rs1342399815	866	P>T		No	ClinGen TOPMed
rs1429281868 CA402215325	868	V>G		No	ClinGen gnomAD
CA8942045 rs767757054	868	V>M		No	ClinGen ExAC gnomAD
rs750678797 CA8942046	870	N>S		No	ClinGen ExAC TOPMed gnomAD
rs150872384 CA8942049	871	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs560946106 CA402215354	871	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560946106 CA8942048	871	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150872384 CA298654660	871	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8942050 rs755575574	872	P>S		No	ClinGen ExAC gnomAD
rs369177477 CA8942051	873	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs747642309 COSM3821420 CA8942052	873	Q>R	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777473337 CA8942054	874	G>A		No	ClinGen ExAC gnomAD
CA8942053 rs757908101	874	G>C		No	ClinGen ExAC gnomAD
rs757908101 CA402215395	874	G>S		No	ClinGen ExAC gnomAD
CA8942055 rs373928167	875	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs574638946 CA8942056	876	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1389500289 CA402215508	878	S>F		No	ClinGen TOPMed
CA8942057 rs776430392	879	Q>H		No	ClinGen ExAC gnomAD
rs745763304 CA8942058	880	V>G		No	ClinGen ExAC gnomAD
rs915904673 CA298654679	881	P>L		No	ClinGen TOPMed
rs1237353787 CA402215599	882	R>K		No	ClinGen gnomAD
CA402215808 rs1339895925	890	K>E		No	ClinGen TOPMed gnomAD
CA8942060 rs140242097	891	K>R		No	ClinGen ESP ExAC TOPMed
rs1207070288 CA402215901	893	T>A		No	ClinGen gnomAD
COSM185698 CA8942061 rs761939836	895	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8942062 rs767499972	895	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8942064 rs760831860	899	N>I		No	ClinGen ExAC gnomAD
rs766811453 CA8942065	901	V>F		No	ClinGen ExAC gnomAD
rs766811453 CA298654726	901	V>I		No	ClinGen ExAC gnomAD
rs78740177 CA8942066 RCV000955538	902	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369206677 CA298654733	902	R>W		No	ClinGen Ensembl
CA402216097 rs1216414320	904	F>V		No	ClinGen gnomAD
rs1454104885 CA402216151	906	W>C		No	ClinGen TOPMed gnomAD
rs1362965607 CA402216136	906	W>R		No	ClinGen gnomAD
rs755445775 CA8942067	908	C>R		No	ClinGen ExAC gnomAD
CA8942068 rs765829768	909	K>R		No	ClinGen ExAC gnomAD
CA402216213 rs1403864642	910	N>T		No	ClinGen gnomAD
CA8942069 rs753318459	912	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8942070 rs190397321	913	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1388613 CA8942071 rs369061380	913	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA402216249 rs1306765565	914	C>*		No	ClinGen gnomAD
rs1443412465 CA402216245	914	C>G		No	ClinGen gnomAD
rs1370333417 CA402216248	914	C>Y		No	ClinGen TOPMed
CA8942074 rs780861283	920	S>T		No	ClinGen ExAC gnomAD
CA402216306 rs1223336268	923	E>K		No	ClinGen gnomAD
rs1489439222 CA402216316	924	P>S		No	ClinGen gnomAD
rs745642307 COSM212979 CA8942075	926	K>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1568666294 CA402216335	927	V>M		No	ClinGen Ensembl
CA8942076 rs551839272	929	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402216353 rs1351340564	929	T>I		No	ClinGen TOPMed
CA8942077 rs775338957	931	R>T		No	ClinGen ExAC gnomAD
CA402216372 rs1383020679	933	E>Q		No	ClinGen gnomAD
CA402216379 rs1423536599	934	H>N		No	ClinGen gnomAD
CA402216383 rs1600398074	934	H>R		No	ClinGen Ensembl
rs1310022477 CA402216400	937	E>K		No	ClinGen TOPMed
CA8942079 rs772140841	940	S>T		No	ClinGen ExAC gnomAD
rs1298144479 CA402216485	943	L>M		No	ClinGen TOPMed gnomAD
rs1374684060 CA402216506	945	V>I		No	ClinGen TOPMed gnomAD
CA402216531 rs1185707825	946	S>L		No	ClinGen Ensembl
CA402216521 rs1416155665	946	S>P		No	ClinGen TOPMed
CA8942094 rs755845638	949	T>A		No	ClinGen ExAC
CA402220023 rs1424761328	950	A>P		No	ClinGen TOPMed
CA402220020 rs1424761328	950	A>T		No	ClinGen TOPMed
rs1317232283 CA402220055	951	A>G		No	ClinGen TOPMed gnomAD
rs779845037 CA8942095	951	A>T		No	ClinGen ExAC TOPMed gnomAD
rs749208597 CA8942096	955	R>K		No	ClinGen ExAC gnomAD
rs1460735989 CA402220196	958	I>V		No	ClinGen gnomAD
CA298663665 rs545223693	959	I>V		No	ClinGen 1000Genomes
CA8942099 rs747042785	960	V>F		No	ClinGen ExAC
rs866155419 CA298663679	962	D>N		No	ClinGen Ensembl
rs746707013 CA8942102	968	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8942101 rs746707013	968	A>T		No	ClinGen ExAC TOPMed gnomAD
rs770238411 CA8942103	968	A>V		No	ClinGen ExAC gnomAD
CA8942104 rs775750887	970	N>S		No	ClinGen ExAC gnomAD
CA402220520 rs1405993279	972	G>S		No	ClinGen gnomAD
rs768331030 CA298663714	974	T>M		No	ClinGen gnomAD
rs1343660286 CA402220562	975	V>M		No	ClinGen TOPMed gnomAD
CA298663751 rs947098150	976	L>V		No	ClinGen TOPMed
rs978251252 CA298663768	978	P>A		No	ClinGen gnomAD
rs978251252 CA402220629	978	P>S		No	ClinGen gnomAD
rs1221732628 CA402220682	980	R>K		No	ClinGen gnomAD
rs200068789 CA8942107	981	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322203041 CA402220750	983	K>T		No	ClinGen TOPMed
CA402220771 rs1223906302	984	I>F		No	ClinGen TOPMed gnomAD
CA402220767 rs1223906302	984	I>V		No	ClinGen TOPMed gnomAD
CA298663796 COSM988244 rs958133125	985	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs755793623 CA8942111	986	I>V		No	ClinGen ExAC gnomAD
CA402221046 rs1242312096	993	A>V		No	ClinGen gnomAD
CA402221063 rs1196636869	994	L>S		No	ClinGen gnomAD
CA402221059 rs1489005827	994	L>V		No	ClinGen gnomAD
CA402221089 rs1429220665	995	N>S		No	ClinGen gnomAD
rs575632990 CA8942114	999	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8942115 rs754856542	1000	E>K		No	ClinGen ExAC gnomAD
rs746532528 CA298670841	1001	K>R		No	ClinGen Ensembl
CA402223942 rs1182988689	1004	T>A		No	ClinGen TOPMed gnomAD
CA402223944 rs149659760	1004	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8942137 rs149659760	1004	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA402223945 rs149659760	1004	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1024492998 CA298670876	1006	I>N		No	ClinGen Ensembl
rs534431362 CA8942139	1006	I>V		No	ClinGen 1000Genomes ExAC
rs554487359 CA8942142	1009	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554487359 CA402223973	1009	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1459567596 CA402223999	1012	K>R		No	ClinGen gnomAD
rs1001987136 CA402224004	1013	Q>*		No	ClinGen TOPMed
rs1001987136 CA298670886	1013	Q>E		No	ClinGen TOPMed
CA402224029 rs1298897588	1016	Q>R		No	ClinGen gnomAD
rs1376003945 CA402224046	1018	A>V		No	ClinGen gnomAD
rs201152499 CA8942143	1021	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8942144 rs772543666	1022	N>K		No	ClinGen ExAC gnomAD
rs772543666 CA8942145	1022	N>K		No	ClinGen ExAC gnomAD
CA8942146 rs760171223	1023	P>A		No	ClinGen ExAC gnomAD
COSM3821421 rs1324428548 CA402224078	1024	E>*	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA402224080 rs1450149160	1024	E>G		No	ClinGen gnomAD
CA8942147 rs765914500	1026	P>A		No	ClinGen ExAC gnomAD
rs776085836 CA402224093	1026	P>H		No	ClinGen ExAC TOPMed gnomAD
rs776085836 CA8942148	1026	P>L		No	ClinGen ExAC TOPMed gnomAD
CA402224103 rs1267831491	1028	G>D		No	ClinGen TOPMed gnomAD
rs375394116 CA402224107	1029	S>C		No	ClinGen ESP gnomAD
rs375394116 CA298670906	1029	S>G		No	ClinGen ESP gnomAD
rs148422896 CA8942149	1029	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142640038 CA402224156	1032	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1020881591 CA298670965	1036	T>S		No	ClinGen TOPMed gnomAD
CA298670992 rs765159862	1042	E>*		No	ClinGen gnomAD
rs765159862 CA298670990	1042	E>K		No	ClinGen gnomAD
CA8942152 rs758320383	1045	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1372529698 CA402224371	1046	R>*		No	ClinGen gnomAD
rs1192799141 COSM275171 CA402224372	1046	R>Q	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs202146466 CA8942154	1051	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425684293 CA402224491	1053	K>N		No	ClinGen gnomAD
rs780196406 CA8942156	1054	M>I		No	ClinGen ExAC TOPMed gnomAD
rs780196406 CA8942157	1054	M>I		No	ClinGen ExAC TOPMed gnomAD
rs755196527 CA8942158	1055	D>G		No	ClinGen ExAC gnomAD
CA402224501 rs1335770464	1055	D>H		No	ClinGen gnomAD
CA402224513 rs779154005	1056	Y>*		No	ClinGen ExAC gnomAD
rs923242540 CA298671014	1056	Y>C		No	ClinGen TOPMed
rs1315638223 CA402224530	1059	T>A		No	ClinGen gnomAD
rs371962021 CA8942160	1059	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs772488613 CA8942161	1060	E>*		No	ClinGen ExAC gnomAD
CA402224887 rs1255659054	1066	P>Q		No	ClinGen TOPMed
CA402224882 rs1422268130	1066	P>T		No	ClinGen TOPMed
rs768523082 CA8942191	1069	D>N		No	ClinGen ExAC TOPMed gnomAD
rs768523082 CA402224900	1069	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8942192 rs774256377	1072	E>K		No	ClinGen ExAC gnomAD
rs1423425958 CA402224929	1073	G>E		No	ClinGen gnomAD
CA402224938 rs1294699424	1074	I>M		No	ClinGen gnomAD
rs1466277977 CA402224933	1074	I>V		No	ClinGen TOPMed
CA402224945 rs1370345771	1075	D>E		No	ClinGen gnomAD
rs1246170025 CA402224955	1077	L>M		No	ClinGen TOPMed
rs761562098 CA8942193	1078	E>G		No	ClinGen ExAC TOPMed gnomAD
CA8942195 rs767474893	1079	N>K		No	ClinGen ExAC TOPMed gnomAD
rs370786413 CA298672473	1080	N>S		No	ClinGen ESP TOPMed gnomAD
CA8942196 rs759590017	1082	T>N		No	ClinGen ExAC gnomAD
CA402224991 rs1600512333	1082	T>P		No	ClinGen Ensembl
CA8942197 rs765309663	1084	G>D		No	ClinGen ExAC gnomAD
rs1434544130 CA402225010	1085	F>V		No	ClinGen gnomAD
rs752864429 CA402225016	1086	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8942198 rs752864429	1086	I>V		No	ClinGen ExAC TOPMed gnomAD
CA402225029 rs1295802772	1088	S>P		No	ClinGen TOPMed
rs1193859645 CA402225034	1089	T>A		No	ClinGen TOPMed gnomAD
rs1193859645 CA402225035	1089	T>S		No	ClinGen TOPMed gnomAD
CA402225040 rs1568711281	1090	L>V		No	ClinGen Ensembl
rs746712580 CA8942201	1092	A>D		No	ClinGen ExAC TOPMed gnomAD
rs746712580 CA8942202 COSM1388614	1092	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8942204 rs199737141	1093	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1017859569 CA298672531	1098	N>S		No	ClinGen TOPMed
CA402225106 rs1276781510	1100	T>S		No	ClinGen gnomAD
CA8942225 rs780755294	1102	A>G		No	ClinGen ExAC gnomAD
CA8942226 COSM173209 rs748794665	1104	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA402225158 rs1467563243	1106	E>G		No	ClinGen gnomAD
rs1358804059 CA402225166	1107	L>F		No	ClinGen gnomAD
rs754600394 CA8942227	1107	L>I		No	ClinGen ExAC gnomAD
rs761947490 CA8942229	1111	E>A		No	ClinGen ExAC TOPMed gnomAD
CA8942228 COSM1207128 rs144885199	1111	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA298673751 rs897549607	1113	V>F		No	ClinGen TOPMed
rs771848731 CA8942230	1114	P>L		No	ClinGen ExAC gnomAD
CA298673802 rs1019676557	1117	K>R		No	ClinGen TOPMed
CA298673832 rs993578673	1121	H>N		No	ClinGen Ensembl
rs765285060 CA8942233	1122	K>R		No	ClinGen ExAC gnomAD
CA402225272 rs1168612472	1123	Q>P		No	ClinGen Ensembl
CA8942234 rs776609845	1124	S>L		No	ClinGen ExAC gnomAD
rs1238812793 CA402225306	1128	H>R		No	ClinGen gnomAD
rs1192280315 CA402225329	1131	T>I		No	ClinGen TOPMed gnomAD
CA402225337 rs1479048959	1132	M>I		No	ClinGen gnomAD
rs200566120 CA8942238	1134	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8942237 rs2303510	1134	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402225371 rs1568714486	1137	F>L		No	ClinGen Ensembl
rs1415375749 CA402225375	1138	P>S		No	ClinGen gnomAD
CA402225401 rs1298816471	1142	D>N		No	ClinGen gnomAD
rs1298816471 CA402225403	1142	D>Y		No	ClinGen gnomAD
CA8942241 rs756604100	1145	S>L		No	ClinGen ExAC TOPMed gnomAD
rs754399962 CA8942243	1146	E>D		No	ClinGen ExAC TOPMed gnomAD
rs150188745 CA8942242	1146	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778305842 COSM119769 CA8942245	1148	G>R	kidney ovary breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1283880393 CA402225442	1148	G>V		No	ClinGen TOPMed
CA402225448 rs1243996512	1149	A>D		No	ClinGen Ensembl
CA8942248 rs763415734	1153	S>P		No	ClinGen ExAC TOPMed gnomAD
CA402225472 rs763415734	1153	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1313029283 CA402225480	1154	A>G		No	ClinGen TOPMed
rs771378845 CA8942276	1159	D>A		No	ClinGen ExAC gnomAD
rs773510270 CA8942274	1159	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8942275 rs773510270	1159	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8942277 rs777101956	1160	Q>R		No	ClinGen ExAC
rs111659891 CA298676905	1161	L>P		No	ClinGen Ensembl
CA402225621 rs1445772251	1162	Q>R		No	ClinGen gnomAD
rs759991830 CA8942279	1163	D>A		No	ClinGen ExAC TOPMed gnomAD
rs759991830 CA8942278	1163	D>V		No	ClinGen ExAC TOPMed gnomAD
rs904416522 CA298676928	1165	L>F		No	ClinGen Ensembl
rs761072317 CA298676917	1165	L>I		No	ClinGen TOPMed gnomAD
rs761072317 CA402225669	1165	L>V		No	ClinGen TOPMed gnomAD
CA298676935 rs138836570	1167	Q>H		No	ClinGen ESP gnomAD
rs762306497 CA8942281	1171	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1183235748 CA402225794	1171	R>T		No	ClinGen gnomAD
CA8942283 rs751164919	1176	W>*		No	ClinGen ExAC gnomAD
rs1446667169 CA402225826	1176	W>R		No	ClinGen gnomAD
rs756934260 CA8942284	1177	D>Y		No	ClinGen ExAC gnomAD
rs1243621698 CA402225855	1180	K>E		No	ClinGen TOPMed
CA402225872 rs1473803490	1182	I>T		No	ClinGen gnomAD
rs756002908 CA8942287	1183	A>G		No	ClinGen ExAC gnomAD
rs779787001 CA8942288	1185	H>Q		No	ClinGen ExAC gnomAD
rs201721037 CA298676980	1185	H>Y		No	ClinGen Ensembl
CA8942289 rs749261912	1187	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1464923853 CA402225943	1187	M>V		No	ClinGen gnomAD
CA402225974 rs1568721087	1189	P>T		No	ClinGen Ensembl
rs1397567187 CA402226023	1192	K>E		No	ClinGen TOPMed
CA402226029 rs1339152858	1192	K>R		No	ClinGen TOPMed
CA8942290 rs758359909	1193	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA8942292 rs138484144	1194	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8942291 COSM988248 rs201618945	1194	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8942293 rs771254203	1195	M>I		No	ClinGen ExAC gnomAD
rs764779231 CA298677008	1195	M>V		No	ClinGen Ensembl
rs777048502 CA8942294	1197	E>K		No	ClinGen ExAC gnomAD
rs775806072 CA8942297	1204	E>G		No	ClinGen ExAC gnomAD
CA8942298 rs763539351	1205	R>L		No	ClinGen ExAC TOPMed gnomAD
CA402226263 rs763539351	1205	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8942300 rs773822511	1211	I>V		No	ClinGen ExAC gnomAD
rs1260948416 CA402226374	1213	H>Y		No	ClinGen gnomAD
rs1383129844 CA402226382	1214	R>K		No	ClinGen TOPMed gnomAD
CA402226383 rs1383129844	1214	R>T		No	ClinGen TOPMed gnomAD
CA402226397 rs1477434472	1216	I>K		No	ClinGen gnomAD
CA402226587 rs1407097012	1221	H>R		No	ClinGen TOPMed
CA8942322 rs772691283	1226	F>L		No	ClinGen ExAC TOPMed gnomAD
rs199876947 CA8942324	1231	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8942325 rs753641918	1232	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs759460324 CA8942326	1234	I>V		No	ClinGen ExAC TOPMed gnomAD
CA298687666 rs1015303591	1235	R>Q		No	ClinGen TOPMed
rs1218875049 COSM1711215 CA402226679	1235	R>W	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA402226704 rs1246863575	1239	I>V		No	ClinGen TOPMed
rs752689233 CA8942329	1244	R>G		No	ClinGen ExAC gnomAD
rs1267727739 CA402226748	1244	R>S		No	ClinGen gnomAD
rs1267727739 CA402226747	1244	R>S		No	ClinGen gnomAD
rs757359096 CA8942330	1246	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1462859448 CA402226781	1247	S>N		No	ClinGen gnomAD
CA402226778 rs1462859448	1247	S>T		No	ClinGen gnomAD
rs532990034 CA8942331	1248	E>V		No	ClinGen ExAC TOPMed gnomAD
CA298687749 rs557997491	1250	A>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA8942332 rs750571771	1252	E>G		No	ClinGen ExAC gnomAD
rs868433081 CA298687752	1253	Y>C		No	ClinGen Ensembl
CA8942333 rs756328690	1254	R>H		No	ClinGen ExAC gnomAD
CA402226858 rs1160569748	1254	R>S		No	ClinGen gnomAD
rs749640715 CA8942335	1255	T>I		No	ClinGen ExAC gnomAD
CA8942336 rs769012032	1257	R>K		No	ClinGen ExAC TOPMed gnomAD
rs779333572 CA8942337	1257	R>S		No	ClinGen ExAC gnomAD
CA402226910 rs748677167	1258	E>D		No	ClinGen ExAC gnomAD
CA8942339 rs748677167	1258	E>D		No	ClinGen ExAC gnomAD
rs747796137 CA298687794	1258	E>G		No	ClinGen Ensembl
rs1363614101 CA402226923	1259	R>S		No	ClinGen gnomAD
CA8942341 rs772743596	1261	L>F		No	ClinGen ExAC gnomAD
rs771530659 CA402226940	1261	L>S		No	ClinGen ExAC TOPMed gnomAD
rs771530659 CA8942340	1261	L>W		No	ClinGen ExAC TOPMed gnomAD
rs1470676921 CA402226952	1262	Q>R		No	ClinGen gnomAD
rs373436846 CA8942344 COSM1680341	1267	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8942343 rs770601848	1267	R>W		No	ClinGen ExAC TOPMed gnomAD
CA402227027 COSM1523049 rs571460399	1268	A>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
CA298687848 rs571460399	1268	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1196510309 CA402227061	1270	H>Q		No	ClinGen gnomAD
rs1237192600 CA402227067	1271	R>K		No	ClinGen gnomAD
rs759341766 CA8942345	1272	E>K		No	ClinGen ExAC gnomAD
rs1411058842 CA402227105	1274	N>D		No	ClinGen TOPMed gnomAD
rs1411058842 CA402227103	1274	N>H		No	ClinGen TOPMed gnomAD
rs1322867438 CA402227139	1276	T>S		No	ClinGen TOPMed
rs1335562647 CA402227193	1281	I>L		No	ClinGen TOPMed gnomAD
rs539796920 CA8942347	1281	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA402227214 rs1464406693	1283	D>N		No	ClinGen TOPMed gnomAD
rs1170326208 CA402227223	1283	D>V		No	ClinGen gnomAD
rs1366218115 CA402227410	1287	F>I		No	ClinGen TOPMed
rs575939229 CA8942371	1288	S>A		No	ClinGen 1000Genomes ExAC gnomAD
rs575939229 CA402227417	1288	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs760749128 COSM1523048 CA8942372	1289	G>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA298692507 rs929954513	1290	S>N		No	ClinGen TOPMed gnomAD
CA298692509 rs987224599	1291	S>P		No	ClinGen Ensembl
rs867961706 CA298692523	1292	P>L		No	ClinGen TOPMed gnomAD
rs868223405 CA298692539	1293	A>V		No	ClinGen gnomAD
rs199888159 CA8942377	1295	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8942378 rs201532185	1296	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8942379 rs148788615	1298	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148788615 CA8942380	1298	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1481818656 CA402227529	1298	P>S		No	ClinGen TOPMed
rs1321482767 CA402227544	1299	Q>P		No	ClinGen gnomAD
CA402227543 rs1321482767	1299	Q>R		No	ClinGen gnomAD
rs1349125176 CA402227563	1301	L>V		No	ClinGen TOPMed gnomAD
rs745415621 CA8942384	1302	S>I		No	ClinGen ExAC gnomAD
CA8942383 rs745415621	1302	S>N		No	ClinGen ExAC gnomAD
CA402227601 rs1346065749	1304	A>E		No	ClinGen TOPMed
rs1346065749 CA402227604	1304	A>V		No	ClinGen TOPMed
rs1238795388 CA402227608	1305	E>Q		No	ClinGen gnomAD
rs574765321 CA8942385	1307	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM70780 CA8942386 rs141169952	1307	A>V	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1289787925 CA402227665	1309	E>G		No	ClinGen gnomAD
CA8942388 rs774294621	1311	E>K		No	ClinGen ExAC gnomAD
rs761686731 CA8942389	1312	N>H		No	ClinGen ExAC gnomAD
rs1457455251 CA402227705	1312	N>S		No	ClinGen TOPMed gnomAD
CA402227717 rs1376227756	1313	M>L		No	ClinGen TOPMed
CA402227721 rs1234721345	1313	M>T		No	ClinGen gnomAD
CA8942390 rs767530064	1315	A>V		No	ClinGen ExAC gnomAD
rs371397197 CA8942391	1316	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1412959537 CA402227757	1316	V>L		No	ClinGen gnomAD
rs1481004373 CA402227765	1317	L>V		No	ClinGen TOPMed
rs1411851939 CA402227780	1318	K>R		No	ClinGen TOPMed
CA402227793 rs192942818	1319	T>N		No	ClinGen 1000Genomes gnomAD
CA402227788 rs1600600076	1319	T>P		No	ClinGen Ensembl
CA298692620 rs192942818	1319	T>S		No	ClinGen 1000Genomes gnomAD
CA8942393 rs753760476	1320	S>A		No	ClinGen ExAC TOPMed gnomAD
rs753760476 CA402227799	1320	S>T		No	ClinGen ExAC TOPMed gnomAD
rs895335894 CA298692653	1321	S>T		No	ClinGen Ensembl
CA8942397 rs546431597	1322	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8942395 rs546431597	1322	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546431597 CA8942396	1322	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8942394 rs371075854	1322	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8942400 rs576568476	1324	V>M		No	ClinGen ExAC gnomAD
CA402227857 rs1324064274	1325	E>Q		No	ClinGen TOPMed
CA8942401 rs755754053	1326	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8942404 rs768456654	1328	T>I		No	ClinGen ExAC TOPMed gnomAD
rs748913113 CA8942403	1328	T>P		No	ClinGen ExAC gnomAD
CA402227911 rs1197728912	1329	P>A		No	ClinGen gnomAD
CA402227923 rs1440823844	1330	A>P		No	ClinGen TOPMed gnomAD
CA402227922 rs1440823844	1330	A>T		No	ClinGen TOPMed gnomAD
rs1400335480 CA402227932	1330	A>V		No	ClinGen TOPMed
CA8942406 rs748024730	1331	L>R		No	ClinGen ExAC gnomAD
rs149906669 CA402227963	1333	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8942407 rs149906669	1333	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs773196842 CA8942408	1334	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773196842 CA8942410	1334	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8942411 rs775735689 COSM1734259	1334	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8942409 rs773196842	1334	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1464904301 CA402227988	1335	T>A		No	ClinGen gnomAD
rs1168198729 CA402227995	1335	T>I		No	ClinGen TOPMed gnomAD
rs1181910215 CA402228027	1338	R>G		No	ClinGen TOPMed
CA402228032 rs1412269450	1338	R>Q		No	ClinGen gnomAD
rs763118335 CA8942412	1339	A>G		No	ClinGen ExAC gnomAD
CA298692754 rs1012329616	1339	A>T		No	ClinGen gnomAD
rs906658191 CA298692794	1341	R>L		No	ClinGen gnomAD
rs906658191 CA298692804	1341	R>Q		No	ClinGen gnomAD
CA402228763 rs1600645207	1347	W>*		No	ClinGen Ensembl
rs1410802385 CA402228756 COSM563286	1347	W>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs909476618 CA298700665	1349	M>V		No	ClinGen gnomAD
CA8942437 rs145954630	1350	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8942438 rs145954630	1350	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8942439 rs761231541	1352	D>G		No	ClinGen ExAC gnomAD
CA8942440 rs187008252	1354	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187008252 CA402228891	1354	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8942442 rs139930679	1356	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8942443 rs756521652	1358	T>I		No	ClinGen ExAC gnomAD
CA8942444 rs199957836	1362	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs369818309 CA8942445	1363	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA402228992 rs369818309	1363	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA402229012 rs1314996952	1364	E>V		No	ClinGen TOPMed
rs547809819 CA8942446	1366	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1386549876 CA402229044	1367	D>A		No	ClinGen gnomAD
CA8942447 rs746849940	1367	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8942448 rs770836110	1368	R>C		No	ClinGen ExAC TOPMed gnomAD
rs781253442 CA8942449	1368	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749323905 CA8942450	1369	I>V		No	ClinGen ExAC gnomAD
CA8942453 rs748406356	1370	V>A		No	ClinGen ExAC TOPMed gnomAD
COSM1388617 CA8942452 rs201824593	1370	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1354061501 CA402229090	1371	K>R		No	ClinGen TOPMed gnomAD
CA402229104 rs1253241184	1372	S>L		No	ClinGen gnomAD
CA8942456 rs761178557	1374	T>A		No	ClinGen ExAC gnomAD
CA298700797 rs1053578528	1376	V>G		No	ClinGen Ensembl
CA402229144 rs1260467779	1377	P>S		No	ClinGen gnomAD
CA8942457 rs766791798	1379	Q>K		No	ClinGen ExAC gnomAD
CA8942458 rs777196169	1379	Q>R		No	ClinGen ExAC gnomAD
rs1161988816 CA402229163	1380	R>*		No	ClinGen TOPMed gnomAD
CA8942459 rs758908752	1380	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA402229176 rs1461254845	1382	V>G		No	ClinGen gnomAD
rs764823335 CA8942460	1382	V>L		No	ClinGen ExAC
CA8942461 rs752304451	1383	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1166059916 CA402229179	1383	P>S		No	ClinGen gnomAD
CA8942462 rs61735985	1384	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751342833 CA8942464	1385	E>G		No	ClinGen ExAC gnomAD
CA8942465 rs757110164	1386	R>W		No	ClinGen ExAC gnomAD
CA8942467 rs745833917	1388	R>*		No	ClinGen ExAC gnomAD
rs754966761 CA8942468	1388	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754966761 CA402229210	1388	R>P		No	ClinGen ExAC TOPMed gnomAD
rs754966761 COSM175378 CA8942469	1388	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772406333 CA8942471	1389	S>C		No	ClinGen ExAC gnomAD
CA8942472 rs773631227	1390	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8942474 rs375589910	1390	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs773631227 CA8942473	1390	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8942475 rs776953843	1391	A>V		No	ClinGen ExAC TOPMed gnomAD
COSM1388618 CA402229232 rs1178366358	1393	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs754161642 CA298700928	1393	R>W		No	ClinGen gnomAD
CA402229687 rs1313423479	1396	L>F		No	ClinGen gnomAD
rs906287770 CA298707490	1397	R>*		No	ClinGen TOPMed gnomAD
rs201185019 CA8942497 COSM1480320	1397	R>Q	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA402229732 rs1567982412	1400	L>V		No	ClinGen Ensembl
CA402229775 rs761561531	1402	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8942500 rs767122022	1403	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1346603430 CA402229810	1405	T>N		No	ClinGen gnomAD
rs1346603430 CA402229811	1405	T>S		No	ClinGen gnomAD
CA402229866 rs1246958126	1409	A>T		No	ClinGen TOPMed gnomAD
rs897426251 CA298707535	1411	A>D		No	ClinGen gnomAD
rs766348312 CA402229899	1411	A>S		No	ClinGen ExAC gnomAD
rs766348312 CA8942504	1411	A>T		No	ClinGen ExAC gnomAD
rs897426251 CA402229905	1411	A>V		No	ClinGen gnomAD
CA8942505 rs753840808	1413	G>S		No	ClinGen ExAC gnomAD
rs1567982600 CA402229944	1415	V>F		No	ClinGen Ensembl
rs1394688722 CA402229985	1417	T>I		No	ClinGen gnomAD
rs758502891 CA8942506	1418	S>L		No	ClinGen ExAC TOPMed gnomAD
CA402230034 rs1396838613	1420	L>F		No	ClinGen gnomAD
CA298707570 rs889975216	1423	L>R		No	ClinGen Ensembl

1 associated diseases with Q2V2M9

[MIM: 619402]: Cardiomyopathy, familial hypertrophic 28 (CMH28)

A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH28 is an autosomal dominant form with incomplete penetrance. {ECO:0000269|PubMed:30442288, ECO:0000269|PubMed:31742804}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH28 is an autosomal dominant form with incomplete penetrance. {ECO:0000269|PubMed:30442288, ECO:0000269|PubMed:31742804}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q2V2M9

Type	Name	Position	InterPro Accession
domain	Diaphanous autoregulatory (DAD) domain	1359 - 1391	IPR014767
domain	Formin, FH2 domain	883 - 1328	IPR015425
domain	FHOD1, N-terminal GTPase-binding domain	6 - 123	IPR041387

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton	Main part of the protein localizes to actin fibers and the remaining part displays filamentous staining
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

1 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.

5 GO annotations of biological process

Name	Definition
actin filament network formation	The assembly of a network of actin filaments; actin filaments on different axes and with differing orientations are crosslinked together to form a mesh of filaments.
cardiac myofibril assembly	The process whose specific outcome is the progression of the cardiac myofibril over time, from its formation to the mature structure. A cardiac myofibril is a myofibril specific to cardiac muscle cells.
cortical actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
negative regulation of actin filament polymerization	Any process that stops, prevents, or reduces the frequency, rate or extent of actin polymerization.
sarcomere organization	The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y613	FHOD1	FH1/FH2 domain-containing protein 1	Homo sapiens (Human)	EV
Q6P9Q4	Fhod1	FH1/FH2 domain-containing protein 1	Mus musculus (Mouse)	SS
Q76LL6	Fhod3	FH1/FH2 domain-containing protein 3	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MATLACRVQF	LDDTDPFNST	NFPEPSRPPL	FTFREDLALG	TQLAGVHRLL	QAPHKLDDCT
70	80	90	100	110	120
LQLSHNGAYL	DLEATLAEQR	DELEGFQDDA	GRGKKHSIIL	RTQLSVRVHA	CIEKLYNSSG
130	140	150	160	170	180
RDLRRALFSL	KQIFQDDKDL	VHEFVVAEGL	TCLIKVGAEA	DQNYQNYILR	ALGQIMLYVD
190	200	210	220	230	240
GMNGVINRNE	TIQWLYTLIG	SKFRLVVKTA	LKLLLVFVEY	SESNAPLLIQ	AVTAVDTKRG
250	260	270	280	290	300
VKPWSNIMEI	LEEKDGVDTE	LLVYAMTLVN	KTLSGLPDQD	TFYDVVDCLE	ELGIAAVSQR
310	320	330	340	350	360
HLNKKGTDLD	LVEQLNIYEV	ALRHEDGDET	TEPPPSGCRD	RRRASVCSSG	GGEHRGLDRR
370	380	390	400	410	420
RSRRHSVQSI	KSTLSAPTSP	CSQSAPSFKP	NQVRDLREKY	SNFGNNSYHS	SRPSSGSSVP
430	440	450	460	470	480
TTPTSSVSPP	QEARLERSSP	SGLLTSSFRQ	HQESLAAERE	RRRQEREERL	QRIEREERNK
490	500	510	520	530	540
FRYKYLEQLA	AEEHEKELRS	RSVSRGRADL	SLDLTSPAAP	ACLAPLSHSP	SSSDSQEALT
550	560	570	580	590	600
VSASSPGTPH	HPQASAGDPE	PESEAEPEAE	AGAGQVADEA	GQDIASAHEG	AETEVEQALE
610	620	630	640	650	660
QEPEERASLS	EKERQNEGVN	ERDNCSASSV	SSSSSTLERE	EKEDKLSRDR	TTGLWPAGVQ
670	680	690	700	710	720
DAGVNGQCGD	ILTNKRFMLD	MLYAHNRKSP	DDEEKGDGEA	GRTQQEAEAV	ASLATRISTL
730	740	750	760	770	780
QANSQTQDES	VRRVDVGCLD	NRGSVKAFAE	KFNSGDLGRG	SISPDAEPND	KVPETAPVQP
790	800	810	820	830	840
KTESDYIWDQ	LMANPRELRI	QDMDFTDLGE	EDDIDVLDVD	LGHREAPGPP	PPPPPTFLGL
850	860	870	880	890	900
PPPPPPPLLD	SIPPPPVPGN	LLVPPPPVFN	APQGLGWSQV	PRGQPTFTKK	KKTIRLFWNE
910	920	930	940	950	960
VRPFDWPCKN	NRRCREFLWS	KLEPIKVDTS	RLEHLFESKS	KELSVSKKTA	ADGKRQEIIV
970	980	990	1000	1010	1020
LDSKRSNAIN	IGLTVLPPPR	TIKIAILNFD	EYALNKEGIE	KILTMIPTDE	EKQKIQEAQL
1030	1040	1050	1060	1070	1080
ANPEIPLGSA	EQFLLTLSSI	SELSARLHLW	AFKMDYETTE	KEVAEPLLDL	KEGIDQLENN
1090	1100	1110	1120	1130	1140
KTLGFILSTL	LAIGNFLNGT	NAKAFELSYL	EKVPEVKDTV	HKQSLLHHVC	TMVVENFPDS
1150	1160	1170	1180	1190	1200
SDLYSEIGAI	TRSAKVDFDQ	LQDNLCQMER	RCKASWDHLK	AIAKHEMKPV	LKQRMSEFLK
1210	1220	1230	1240	1250	1260
DCAERIIILK	IVHRRIINRF	HSFLLFMGHP	PYAIREVNIN	KFCRIISEFA	LEYRTTRERV
1270	1280	1290	1300	1310	1320
LQQKQKRANH	RERNKTRGKM	ITDSGKFSGS	SPAPPSQPQG	LSYAEDAAEH	ENMKAVLKTS
1330	1340	1350	1360	1370	1380
SPSVEDATPA	LGVRTRSRAS	RGSTSSWTMG	TDDSPNVTDD	AADEIMDRIV	KSATQVPSQR
1390	1400	1410	1420
VVPRERKRSR	ANRKSLRRTL	KSGLTPEEAR	ALGLVGTSEL	QL