AiPD: Autoinhibited Protein Database

O15085

Gene name	ARHGEF11 (KIAA0380)
Protein name	Rho guanine nucleotide exchange factor 11
Names	PDZ-RhoGEF
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9826
EC number
Protein Class	RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2, ISOFORM D (PTHR45872)

Descriptions

ARHGEF11 belongs to a small family of RhoA-specific nucleotide exchange factors that mediates signaling through select G-protein-coupled receptors via Gα12/13 and activates RhoA by catalyzing the exchange of GDP to GTP. ARHGEF11 is a multidomain protein composed of PDZ, regulators of G-protein signaling-like (RGSL), Dbl-homology (DH), and pleckstrin-homology (PH) domains. The autoinhibitory activity resides in the 672-712 fragment in such a way that it disturbs the catalytically competent conformation of the GEF switch. The intrinsically disordered L2 linker located between RGSL domain and DH domain occupied the RhoA-binding site on DH domain, thereby suppressing the DH domain. In addition, ARHGEF12 removed RGSL domain showed partial relief of autoinhibition, suggesting that RGSL domain supports autoinhibition indirectly.

Autoinhibitory domains (AIDs)

Target domain	734-1079 (DH-PH tandem)
Relief mechanism	Partner binding
Assay	Split protein assay, Mutagenesis experiment, Structural analysis

AID

672-712 (Autoinhibitory region)

Target domain

734-1079 (DH-PH tandem)

Relief mechanism

Partner binding (Interaction between Gα12/13 with L2 linker)

Assay

Split protein assay, Mutagenesis experiment, Structural analysis

Target domain	734-1079 (DH-PH tandem)
Relief mechanism	Partner binding
Assay	Split protein assay, Mutagenesis experiment, Structural analysis

AID

491-671 (L2 linker)

Target domain

734-1079 (DH-PH tandem)

Relief mechanism

Partner binding (Interaction between Gα12/13 with L2 linker)

Assay

Split protein assay, Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Bielnicki JA et al. (2011) "Insights into the molecular activation mechanism of the RhoA-specific guanine nucleotide exchange factor, PDZRhoGEF", The Journal of biological chemistry, 286, 35163-75

Autoinhibited structure

Activated structure

10 structures for O15085

Entry ID	Method	Resolution	Chain	Position	Source
1HTJ	X-ray	220 A	F	281-490	PDB
1XCG	X-ray	250 A	A/E	714-1081	PDB
2DLS	NMR	-	A	44-123	PDB
3KZ1	X-ray	270 A	A/B	710-1085	PDB
3T06	X-ray	284 A	A/E	672-1081	PDB
5E6P	X-ray	321 A	B	42-125	PDB
5JHG	X-ray	250 A	A/E	714-1081	PDB
5JHH	X-ray	230 A	A/E	714-1081	PDB
5TYT	X-ray	240 A	A/B/C/D	41-123	PDB
AF-O15085-F1	Predicted				AlphaFoldDB

1163 variants for O15085

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA342945590 rs1331122319	2	S>N		No	ClinGen gnomAD
rs560915722 CA31103784	4	R>G		No	ClinGen Ensembl
rs1219708862 CA342945516	5	L>S		No	ClinGen TOPMed
rs1354359182 CA342945503	6	P>S		No	ClinGen TOPMed gnomAD
CA342945502 rs1354359182	6	P>T		No	ClinGen TOPMed gnomAD
rs770262662 CA1172967 COSM354742	9	I>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1413305631 CA342945385	10	D>H		No	ClinGen TOPMed gnomAD
rs1417765043 CA342945372	11	R>G		No	ClinGen TOPMed
CA342945368 rs1451733386	11	R>K		No	ClinGen TOPMed
CA1172948 rs762192902	14	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1172947 rs762192902	14	S>T		No	ClinGen ExAC TOPMed gnomAD
CA342956248 rs1379440972	15	L>P		No	ClinGen gnomAD
CA342956206 rs1188390841	17	S>A		No	ClinGen TOPMed
rs1430474126 CA342956177	17	S>C		No	ClinGen gnomAD
rs190297928 CA1172945	20	D>G		No	ClinGen 1000Genomes ExAC
rs1185651536 CA342955999	24	E>A		No	ClinGen TOPMed gnomAD
CA342956008 rs1557906014	24	E>Q		No	ClinGen Ensembl
rs910976975 CA31117228	25	R>C		No	ClinGen TOPMed gnomAD
rs775705969 CA1172943	25	R>H		No	ClinGen ExAC gnomAD
CA1172944 rs775705969	25	R>L		No	ClinGen ExAC gnomAD
rs772210758 CA1172942	28	P>A		No	ClinGen ExAC
rs745957344 CA1172941	29	S>C		No	ClinGen ExAC TOPMed gnomAD
rs745957344 CA342955832	29	S>F		No	ClinGen ExAC TOPMed gnomAD
CA1172940 rs779228355	30	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1270686480 CA342955773	31	H>N		No	ClinGen gnomAD
rs1167149885 CA342955757	31	H>R		No	ClinGen TOPMed
CA342955731 COSM897492 rs1200163628	32	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs771089737 CA1172939 COSM309254	32	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs560363112 CA31117159	33	Q>R		No	ClinGen 1000Genomes
COSM897491 rs375264879 CA1172938	35	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs867791189 CA31117128	37	A>S		No	ClinGen gnomAD
CA342955646 rs867791189	37	A>T		No	ClinGen gnomAD
CA31117118 rs541744963	40	T>R		No	ClinGen 1000Genomes TOPMed
CA31115637 rs924501161	44	V>F		No	ClinGen TOPMed gnomAD
CA342955371 rs924501161	44	V>I		No	ClinGen TOPMed gnomAD
CA342955348 rs1260060048	45	Q>R		No	ClinGen gnomAD
CA342955332 COSM897490 rs1347868807	46	R>C	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1172910 rs763818310	46	R>H		No	ClinGen ExAC TOPMed gnomAD
rs902773849 CA31115612	48	V>I		No	ClinGen TOPMed gnomAD
rs1306319821 COSM676320 CA342955235	51	Q>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1389899294 CA342955177	54	Q>L		No	ClinGen gnomAD
CA342955159 rs1357530085	55	H>L		No	ClinGen gnomAD
CA342955090 rs1164200582	61	V>L		No	ClinGen TOPMed
rs768106536 CA1172907	63	G>R		No	ClinGen ExAC TOPMed gnomAD
COSM1317652 rs143441387 CA1172906	65	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA1172905 rs766437692	65	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1172904 rs766437692	65	R>L		No	ClinGen ExAC TOPMed gnomAD
CA342955027 rs1476022435	66	I>T		No	ClinGen TOPMed gnomAD
CA31115571 rs914385662	66	I>V		No	ClinGen TOPMed gnomAD
CA1172903 rs151017400	67	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1172901 rs770028244	70	Q>H		No	ClinGen ExAC gnomAD
CA1172902 rs773252903	70	Q>K		No	ClinGen ExAC gnomAD
rs1450049618 CA342954952	72	V>L		No	ClinGen TOPMed
rs142752332 CA1172898	73	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1172899 rs142608371	73	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA342954924 rs1337293708	74	P>A		No	ClinGen TOPMed gnomAD
rs775256784 CA1172881	77	A>T		No	ClinGen ExAC gnomAD
CA31112144 rs760371886	79	M>I		No	ClinGen Ensembl
CA342953590 rs1170061026	79	M>V		No	ClinGen gnomAD
CA31112139 rs111503701	80	K>E		No	ClinGen Ensembl
CA1172880 rs565746501	80	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs772611575 CA1172878	81	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1253713510 CA342953515 COSM1335030	82	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1291776899 CA342953462	84	K>N		No	ClinGen TOPMed
rs921039548 CA31112099	87	D>N		No	ClinGen TOPMed gnomAD
rs547538874 CA1172876	88	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA31112089 rs912591255	88	R>W		No	ClinGen TOPMed gnomAD
CA31112073 rs771562551	89	I>L		No	ClinGen Ensembl
CA1172863 rs113635960	94	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372928935 CA1172862	96	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172861 rs774156564	98	T>S		No	ClinGen ExAC gnomAD
rs770797395 CA1172860	99	N>S		No	ClinGen ExAC TOPMed gnomAD
CA342952917 rs1557894211	100	S>N		No	ClinGen Ensembl
rs1162459354 CA342952913	100	S>R		No	ClinGen gnomAD
rs772853181 CA1172858	110	K>E		No	ClinGen ExAC gnomAD
rs769494066 CA1172857	110	K>R		No	ClinGen ExAC gnomAD
rs201406921 CA1172834	113	A>T		No	ClinGen ExAC TOPMed gnomAD
CA342951812 rs1463188495	113	A>V		No	ClinGen TOPMed gnomAD
CA342951791 rs1415100454	115	V>I		No	ClinGen TOPMed
CA1172832 rs367970481	116	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1333613724 CA342951764	116	A>V		No	ClinGen gnomAD
CA342951732 rs1557892665	119	L>V		No	ClinGen Ensembl
rs1364759696 CA342951695	123	S>L		No	ClinGen gnomAD
CA342951694 rs1434959450	124	P>T		No	ClinGen gnomAD
rs141941706 CA342951675	127	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1172828 rs141941706	127	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779439445 CA1172827	128	G>S		No	ClinGen ExAC TOPMed gnomAD
CA1172826 rs757723171	130	S>A		No	ClinGen ExAC gnomAD
CA342951643 rs1283003247	132	L>F		No	ClinGen TOPMed
rs983890727 CA342951633	133	Q>H		No	ClinGen TOPMed gnomAD
rs983890727 CA31110350	133	Q>H		No	ClinGen TOPMed gnomAD
rs1181899010 CA342951628	134	Q>R		No	ClinGen TOPMed
rs749393446 CA1172825	135	D>E		No	ClinGen ExAC gnomAD
CA1172823 rs756294527	136	P>L		No	ClinGen ExAC gnomAD
rs777851581 CA342951617	136	P>S		No	ClinGen ExAC gnomAD
CA1172824 rs777851581	136	P>T		No	ClinGen ExAC gnomAD
rs767620495 CA1172821	137	S>F		No	ClinGen ExAC gnomAD
CA1172820 rs750209448	139	A>E		No	ClinGen ExAC TOPMed gnomAD
CA342951602 rs1571332681	139	A>T		No	ClinGen Ensembl
rs750209448 CA1172819	139	A>V		No	ClinGen ExAC TOPMed gnomAD
CA342951582 rs1467796052	142	P>L		No	ClinGen TOPMed gnomAD
rs765294400 CA1172818	142	P>S		No	ClinGen ExAC gnomAD
CA31110261 rs370156269	143	R>G		No	ClinGen ESP TOPMed gnomAD
CA1172817 rs377075621	143	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs377075621 COSM897486 CA1172816	143	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1172815 rs753643018	144	I>V		No	ClinGen ExAC gnomAD
CA1172814 rs568062798	145	T>M		No	ClinGen ExAC TOPMed gnomAD
CA342951563 rs1340656810	146	S>L		No	ClinGen gnomAD
rs746219893 CA31110231	147	V>G		No	ClinGen gnomAD
rs1441702975 CA342951556	148	I>V		No	ClinGen gnomAD
rs1392793494 CA342951546	149	P>R		No	ClinGen TOPMed
rs1367220018 CA342951539	150	S>L		No	ClinGen TOPMed gnomAD
CA1172812 rs771594854	152	P>A		No	ClinGen ExAC TOPMed gnomAD
rs369038010 CA31110229	153	P>H		No	ClinGen Ensembl
rs1444580724 CA342951517	154	P>L		No	ClinGen gnomAD
CA342951507 rs1354911649	156	P>L		No	ClinGen TOPMed gnomAD
CA342951482 rs1349207857	160	P>L		No	ClinGen TOPMed
CA342951481 rs1221119747	161	Q>K		No	ClinGen TOPMed gnomAD
rs1272977660 CA342951477	161	Q>R		No	ClinGen TOPMed
CA1172811 rs746265259	162	R>C		No	ClinGen ExAC TOPMed gnomAD
rs771442711 CA1172810	162	R>H		No	ClinGen ExAC gnomAD
rs771442711 CA1172809	162	R>L		No	ClinGen ExAC gnomAD
rs749728578 CA1172808	169	L>P		No	ClinGen ExAC gnomAD
rs756275202 CA1172806	170	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA342951424 rs756275202	170	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA342951404 rs1453816478	171	D>G		No	ClinGen gnomAD
rs1170870829 CA342951408	171	D>H		No	ClinGen TOPMed
rs1368894123 CA342951388	173	E>D		No	ClinGen TOPMed
CA1172780 rs755958507	173	E>K		No	ClinGen ExAC TOPMed gnomAD
CA342951378 rs1571326890	175	Q>P		No	ClinGen Ensembl
CA31109208 rs923264990	178	A>S		No	ClinGen Ensembl
rs771409601 CA31109204	180	Q>P		No	ClinGen Ensembl
CA1172777 rs759042987	182	L>F		No	ClinGen ExAC gnomAD
rs1254657409 CA342951320	184	N>H		No	ClinGen gnomAD
rs546035936 CA31109195	186	L>P		No	ClinGen Ensembl
rs751271060 CA1172776	186	L>V		No	ClinGen ExAC gnomAD
rs1293916459 CA342951294	187	R>S		No	ClinGen TOPMed
rs1267531073 CA342951285	189	E>K		No	ClinGen gnomAD
CA1172773 rs773406952	190	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1265876329 CA342951269	191	K>E		No	ClinGen gnomAD
CA1172772 rs770352688	192	E>D		No	ClinGen ExAC gnomAD
rs560575884 CA1172714	195	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342949211 rs1397142833	196	I>K		No	ClinGen TOPMed
rs753314188 CA1172713	196	I>L		No	ClinGen ExAC gnomAD
CA1172711 rs759573886	197	L>F		No	ClinGen ExAC TOPMed gnomAD
rs759573886 CA1172712	197	L>V		No	ClinGen ExAC TOPMed gnomAD
CA342949145 rs1380585385	200	Y>C		No	ClinGen TOPMed gnomAD
rs1041816936 CA31103817	200	Y>H		No	ClinGen Ensembl
CA1172710 rs751617694	203	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1446395752 CA342949088	203	T>S		No	ClinGen gnomAD
rs763102741 CA342949040	207	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1172708 rs763102741	207	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1172707 rs776411927	208	S>L		No	ClinGen ExAC gnomAD
CA342948926 rs1246555923	210	G>D		No	ClinGen gnomAD
CA1172684 rs775310657	211	R>Q		No	ClinGen ExAC gnomAD
rs34257823 CA1172685	211	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA31103127 rs1050121606	212	L>F		No	ClinGen TOPMed gnomAD
rs1050121606 CA342948908	212	L>I		No	ClinGen TOPMed gnomAD
CA342948887 rs1228259204	213	S>C		No	ClinGen TOPMed gnomAD
rs1228259204 CA342948884	213	S>F		No	ClinGen TOPMed gnomAD
rs771919602 CA1172683	217	Q>K		No	ClinGen ExAC gnomAD
CA342948788 rs1220103731	218	E>D		No	ClinGen TOPMed gnomAD
rs1020102602 CA31103121	218	E>Q		No	ClinGen Ensembl
rs759454763 CA342948776	219	G>R		No	ClinGen ExAC TOPMed gnomAD
rs759454763 CA1172682	219	G>W		No	ClinGen ExAC TOPMed gnomAD
rs774152753 CA1172681	220	D>G		No	ClinGen ExAC gnomAD
CA342948749 rs774152753	220	D>V		No	ClinGen ExAC gnomAD
rs770624914 CA1172680	222	G>C		No	ClinGen ExAC TOPMed gnomAD
CA1172679 rs145547977	222	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1172677 rs769530623	223	L>F		No	ClinGen ExAC gnomAD
rs1427673465 CA342948662	224	D>E		No	ClinGen gnomAD
rs1571297420 CA342948669	224	D>G		No	ClinGen Ensembl
CA342948656 rs1360389040	225	S>A		No	ClinGen TOPMed gnomAD
CA1172676 rs548547609	226	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342948644 rs548547609	226	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1432293897 CA342948637	226	G>V		No	ClinGen gnomAD
CA1172675 rs781561460	227	T>A		No	ClinGen ExAC gnomAD
COSM266029 rs755443263 CA1172674	229	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1252918488 CA342948595	229	R>H		No	ClinGen gnomAD
rs1301101702 CA342948589	230	F>S		No	ClinGen TOPMed
rs747614252 CA1172673	231	P>L		No	ClinGen ExAC gnomAD
CA342948583 rs1571297261	231	P>S		No	ClinGen Ensembl
rs1571297185 CA342948568	234	S>R		No	ClinGen Ensembl
rs758520568 CA1172671	235	E>G		No	ClinGen ExAC gnomAD
rs200033917 CA1172651	236	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA342948183 rs1201504612	237	L>V		No	ClinGen TOPMed
CA342948155 rs1420119977	238	M>K		No	ClinGen TOPMed gnomAD
CA1172650 rs367701557	238	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172648 rs201112397	240	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764200211 CA1172649	240	R>W		No	ClinGen ExAC gnomAD
CA1172646 rs373600013	242	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172647 rs373600013	242	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA31101816 rs757424924	243	V>A		No	ClinGen Ensembl
CA342948019 rs1241429930	245	S>T		No	ClinGen gnomAD
rs955776980 CA31101786	246	D>N		No	ClinGen Ensembl
rs202015442 CA31101781	247	P>A		No	ClinGen 1000Genomes gnomAD
rs764906322 CA1172643	248	G>V		No	ClinGen ExAC gnomAD
CA342947914 rs1173112188	250	D>E		No	ClinGen TOPMed
CA1172642 rs147174597	250	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs766838666 CA31101754	252	P>S		No	ClinGen Ensembl
rs1489353025 CA342947850	253	R>Q		No	ClinGen gnomAD
rs1487315103 CA342947823	255	S>F		No	ClinGen gnomAD
CA1172640 rs371430782	256	P>A		No	ClinGen ESP ExAC TOPMed
CA1172639 rs368729405	256	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA342947767 rs1323366625	258	I>T		No	ClinGen TOPMed
rs772574460 CA1172635	259	M>I		No	ClinGen ExAC gnomAD
CA342947712 rs1372562153	259	M>T		No	ClinGen TOPMed
CA1172637 rs775776456	259	M>V		No	ClinGen ExAC gnomAD
rs746445188 CA1172634	260	A>V		No	ClinGen ExAC gnomAD
CA342947647 rs779382853	261	R>K		No	ClinGen ExAC gnomAD
CA1172632 rs779382853	261	R>M		No	ClinGen ExAC gnomAD
CA1172631 rs749297160	261	R>S		No	ClinGen ExAC gnomAD
CA342947632 rs749297160	261	R>S		No	ClinGen ExAC gnomAD
CA342947644 rs779382853	261	R>T		No	ClinGen ExAC gnomAD
CA342947599 rs1557875836	262	V>E		No	ClinGen Ensembl
rs1557875836 CA342947604	262	V>G		No	ClinGen Ensembl
CA342947555 rs1383900031	264	Q>E		No	ClinGen gnomAD
CA342947512 rs1270130901	265	H>P		No	ClinGen TOPMed
rs1317341295 CA342947475	266	H>Q		No	ClinGen gnomAD
CA1172626 rs751411923	268	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1172627 rs148414156	268	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172625 rs374684925	271	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172623 rs750442493 COSM897482	271	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750442493 CA1172624	271	S>W		No	ClinGen ExAC TOPMed gnomAD
CA342947302 rs1267871600	273	A>G		No	ClinGen TOPMed gnomAD
CA342947314 rs1452286919	273	A>T		No	ClinGen TOPMed
CA342947287 rs1267871600	273	A>V		No	ClinGen TOPMed gnomAD
CA342947266 rs1474382509	274	A>V		No	ClinGen TOPMed
rs1571289637 CA342947235	275	V>G		No	ClinGen Ensembl
CA31101583 rs952248920	278	T>A		No	ClinGen TOPMed
rs183580857 CA1172619	279	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342947073 rs1276730756	281	Q>H		No	ClinGen gnomAD
CA1172600 rs559931812	282	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs760169289 CA1172599	283	V>I		No	ClinGen ExAC gnomAD
rs1326977021 CA342945879	284	D>G		No	ClinGen gnomAD
rs1468364640 CA342945809	288	K>E		No	ClinGen gnomAD
CA1172598 rs767126561	288	K>N		No	ClinGen ExAC TOPMed gnomAD
rs767126561 CA1172597	288	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1571271058 CA342945758	290	L>F		No	ClinGen Ensembl
CA342945750 rs1442520710	291	I>N		No	ClinGen gnomAD
rs1201391597 CA342945733	292	I>N		No	ClinGen gnomAD
CA342945740 rs1470642015	292	I>V		No	ClinGen TOPMed
CA342945674 rs1278316344	295	E>K		No	ClinGen gnomAD
CA342945676 rs1278316344	295	E>Q		No	ClinGen gnomAD
CA342945657 rs1369189179	296	E>K		No	ClinGen TOPMed gnomAD
rs774532053 CA342945617	297	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1172596 rs759925894	297	D>G		No	ClinGen ExAC gnomAD
CA1172594 rs766925017	298	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1391083996 CA342945550	300	P>L		No	ClinGen TOPMed gnomAD
rs938909569 CA31098339	300	P>S		No	ClinGen Ensembl
CA1172592 rs773762989	303	F>L		No	ClinGen ExAC gnomAD
rs769821784 CA1172591	303	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1164947156 CA342945456	305	N>S		No	ClinGen gnomAD
CA342945437 rs1407946889	306	E>K		No	ClinGen TOPMed gnomAD
CA342945251 rs1301228791	308	D>E		No	ClinGen TOPMed gnomAD
CA31098016 rs1003135384	308	D>N		No	ClinGen gnomAD
CA31098011 rs888602987	309	I>M		No	ClinGen TOPMed
CA342945217 rs1169114393	310	I>M		No	ClinGen gnomAD
CA1172564 rs376454900	310	I>T		No	ClinGen ESP ExAC gnomAD
CA1172565 rs770684914	310	I>V		No	ClinGen ExAC gnomAD
CA1172563 rs777603442	311	F>C		No	ClinGen ExAC TOPMed gnomAD
rs932832912 CA31097996	311	F>L		No	ClinGen TOPMed gnomAD
rs747671880 CA1172561	313	D>E		No	ClinGen ExAC gnomAD
CA1172562 rs755998250	313	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1172560 rs780615920	314	L>V		No	ClinGen ExAC gnomAD
CA342945153 rs1249257576	315	E>A		No	ClinGen TOPMed
rs754478298 CA1172559	320	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1197900607 CA342945051	320	R>W		No	ClinGen TOPMed gnomAD
CA31097966 rs947570846	321	P>L		No	ClinGen TOPMed
CA342945005 rs1263786967	323	H>Q		No	ClinGen gnomAD
CA1172556 rs758729680	324	L>V		No	ClinGen ExAC gnomAD
rs1557868249 CA342944979	325	G>W		No	ClinGen Ensembl
CA31097920 rs1041536600	326	V>A		No	ClinGen TOPMed
CA342944961 rs1557868223	326	V>I		No	ClinGen Ensembl
CA1172554 rs765349041	329	R>C		No	ClinGen ExAC gnomAD
rs945343241 CA31097873	329	R>H		No	ClinGen TOPMed gnomAD
rs142012484 CA1172553	331	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172552 rs145077102	332	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760790005 CA1172550	335	A>V		No	ClinGen ExAC gnomAD
rs775619740 CA1172549	337	P>H		No	ClinGen ExAC TOPMed gnomAD
rs775619740 CA342944689	337	P>L		No	ClinGen ExAC TOPMed gnomAD
CA342944698 rs1176353888	337	P>S		No	ClinGen gnomAD
rs368833707 CA1172548	338	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1172547 rs368833707	338	S>R		No	ClinGen ExAC TOPMed gnomAD
CA342944684 rs1245214349	338	S>T		No	ClinGen TOPMed
CA31096378 rs147576500 COSM109997	342	F>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs540397099 CA1172534	345	C>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1172533 rs760703491	345	C>Y		No	ClinGen ExAC gnomAD
rs201780462 CA31096345	346	A>T		No	ClinGen Ensembl
CA342944155 rs1184260383	349	Y>S		No	ClinGen gnomAD
CA342944146 rs1461066444	350	Q>R		No	ClinGen gnomAD
CA342944130 rs1241562289	352	A>G		No	ClinGen gnomAD
CA342944133 rs1244411778	352	A>P		No	ClinGen TOPMed
CA1172531 rs767647413	354	P>H		No	ClinGen ExAC gnomAD
CA1172530 rs759738574	355	K>R		No	ClinGen ExAC gnomAD
rs868453260 CA31096319	358	R>*		No	ClinGen Ensembl
rs1259864515 CA342944091	358	R>L		No	ClinGen gnomAD
rs1259864515 CA342944093	358	R>Q		No	ClinGen gnomAD
CA1172529 rs774553550	359	S>R		No	ClinGen ExAC TOPMed gnomAD
CA1172528 rs769632675	359	S>R		No	ClinGen ExAC gnomAD
rs1315203216 CA342944068	360	L>V		No	ClinGen TOPMed gnomAD
rs1205145979 CA342944052	361	G>W		No	ClinGen Ensembl
CA1172527 rs369602809	363	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1379892121 CA342944014	363	D>Y		No	ClinGen gnomAD
rs1399846304 CA342943983	364	I>V		No	ClinGen gnomAD
rs1168654973 CA342943931	366	N>S		No	ClinGen gnomAD
CA342943804 rs1448019477	371	K>E		No	ClinGen TOPMed
CA342943763 rs1557864807	372	N>S		No	ClinGen Ensembl
rs776589376 CA1172526	373	A>S		No	ClinGen ExAC gnomAD
CA1172525 rs768597800 COSM206923	373	A>V	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1269250822 CA342942401	374	P>L		No	ClinGen gnomAD
CA31095456 rs949612308	377	V>M		No	ClinGen TOPMed
CA1172501 rs771664561	380	P>S		No	ClinGen ExAC gnomAD
CA1172500 rs745343912	381	E>K		No	ClinGen ExAC gnomAD
rs774182297 CA1172499	382	M>I		No	ClinGen ExAC gnomAD
CA1172497 rs749684158	387	I>V		No	ClinGen ExAC TOPMed gnomAD
rs770240290 CA1172477	388	D>G		No	ClinGen ExAC gnomAD
rs748426735 CA1172476	389	S>L		No	ClinGen ExAC gnomAD
CA342941932 rs1349277296	389	S>P		No	ClinGen gnomAD
rs935349970 CA31094272 COSM1290001	390	R>C	haematopoietic_and_lymphoid_tissue breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs755424336 CA1172474	390	R>H		No	ClinGen ExAC TOPMed gnomAD
rs915844304 CA31094270	391	L>V		No	ClinGen TOPMed gnomAD
CA1172472 rs368227122 COSM1335027	392	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1172473 rs747105074	392	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1172470 rs578149847	395	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA1172468 rs370196454	398	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172469 rs370196454	398	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs145549282 CA1172467	398	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs145549282 CA31094229	398	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs767503749 CA1172466	400	V>G		No	ClinGen ExAC gnomAD
CA1172465 rs759484825	402	C>R		No	ClinGen ExAC TOPMed gnomAD
rs751542380 CA1172464	403	E>D		No	ClinGen ExAC TOPMed gnomAD
rs928334359 CA31094221	403	E>K		No	ClinGen TOPMed
rs766048633 CA1172463	404	A>V		No	ClinGen ExAC gnomAD
CA342941501 rs376380091	407	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376380091 CA1172462	407	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373529045 CA1172461	409	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA31094205 rs955718387	409	M>V		No	ClinGen Ensembl
rs1362978048 CA342941144	414	E>K		No	ClinGen gnomAD
CA342941064 rs1383547143	415	Q>H		No	ClinGen TOPMed gnomAD
rs769287261 CA1172460	415	Q>R		No	ClinGen ExAC gnomAD
rs769155252 CA1172458	418	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769155252 CA1172457	418	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1172435 rs200642355	421	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1172433 rs771043193	423	R>C		No	ClinGen ExAC gnomAD
rs749533536 CA1172432	423	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1309295871 CA342940720	426	G>W		No	ClinGen gnomAD
CA1172430 rs754863900	428	G>R		No	ClinGen ExAC gnomAD
CA342940629 rs1337210711	429	S>R		No	ClinGen gnomAD
CA342940640 rs1338929406	429	S>T		No	ClinGen gnomAD
CA1172427 rs758208446	431	Y>C		No	ClinGen ExAC gnomAD
CA342940572 rs1344766595	432	G>S		No	ClinGen gnomAD
rs1197176103 CA342940523	434	N>H		No	ClinGen TOPMed
CA342940498 rs1240358141	435	D>Y		No	ClinGen TOPMed
rs986088909 CA342940417	439	L>P		No	ClinGen gnomAD
rs986088909 CA31093919	439	L>Q		No	ClinGen gnomAD
rs764720762 CA1172425	441	G>V		No	ClinGen ExAC gnomAD
rs563808834 CA1172423	442	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1434965898 CA342940332	444	L>F		No	ClinGen TOPMed
rs922722243 CA31093834	444	L>R		No	ClinGen Ensembl
CA1172418 rs142205816	445	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs138989392 CA1172417	445	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA342940309 rs1481666411	446	E>K		No	ClinGen TOPMed gnomAD
CA342940310 rs1481666411	446	E>Q		No	ClinGen TOPMed gnomAD
CA31093802 rs1014680705	447	R>C		No	ClinGen TOPMed gnomAD
rs1014680705 CA342940292	447	R>G		No	ClinGen TOPMed gnomAD
rs142957547 CA1172416	447	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342940235 rs1384098715	449	V>L		No	ClinGen TOPMed gnomAD
CA342940225 rs1436267966	450	A>S		No	ClinGen gnomAD
CA1172415 rs148591491	452	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1172414 rs773596462	459	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1388027505 CA342940117	460	I>T		No	ClinGen TOPMed
rs1050810415 CA31147022	463	K>R		No	ClinGen TOPMed
rs767831796 CA1172400	467	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA342957614 rs1301448936	468	R>K		No	ClinGen gnomAD
rs1357501934 CA342957589	470	A>T		No	ClinGen TOPMed gnomAD
CA342957578 rs1571234574	471	P>L		No	ClinGen Ensembl
CA342957581 rs1367588277	471	P>S		No	ClinGen gnomAD
CA1172381 rs751899937	472	M>V		No	ClinGen ExAC gnomAD
rs913640801 CA31146600	473	D>H		No	ClinGen TOPMed
CA31146596 rs570921103	474	F>I		No	ClinGen TOPMed gnomAD
CA1172380 rs763483544	474	F>L		No	ClinGen ExAC TOPMed gnomAD
CA342957562 rs570921103	474	F>L		No	ClinGen TOPMed gnomAD
CA342957561 rs570921103	474	F>V		No	ClinGen TOPMed gnomAD
CA1172378 rs142134087	475	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142134087 CA1172377	475	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1559915 CA342957553 rs1428917273	475	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs768881890 CA1172374	477	N>D		No	ClinGen ExAC gnomAD
rs768881890 CA1172375	477	N>H		No	ClinGen ExAC gnomAD
rs759265095 CA1172373	477	N>S		No	ClinGen ExAC
rs367826665 CA1172372	479	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770709021 CA1172371	480	M>T		No	ClinGen ExAC
CA31146507 rs766422545	480	M>V		No	ClinGen TOPMed gnomAD
rs1003026726 CA31146495	486	R>C		No	ClinGen TOPMed gnomAD
CA1172369 COSM1498794 rs777668643	486	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1308512612 CA342957476	488	R>G		No	ClinGen gnomAD
CA1172368 rs769338922	488	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1172367 rs780733515	491	R>P		No	ClinGen ExAC gnomAD
rs780733515 CA1172366	491	R>Q		No	ClinGen ExAC gnomAD
CA342957454 rs1467971226	492	P>A		No	ClinGen TOPMed
CA342957455 rs1467971226	492	P>T		No	ClinGen TOPMed
rs1347903817 CA342957444	493	S>F		No	ClinGen gnomAD
CA31146470 rs1001890478	496	A>V		No	ClinGen TOPMed
CA342957408 rs374524912	498	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA342957407 rs1390338985	499	A>T		No	ClinGen TOPMed
rs780529721 CA1172363	500	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA31146408 rs1042122469	502	A>T		No	ClinGen Ensembl
rs751015653 CA1172361	505	K>R		No	ClinGen ExAC gnomAD
CA1172360 rs765807282	507	K>R		No	ClinGen ExAC gnomAD
rs764228577 CA1172357	510	P>L		No	ClinGen ExAC TOPMed gnomAD
CA342957331 rs1198525798	510	P>S		No	ClinGen TOPMed gnomAD
rs1198525798 CA342957333	510	P>T		No	ClinGen TOPMed gnomAD
rs868742720 CA31146384	515	T>I		No	ClinGen Ensembl
rs775562486 CA1172355	516	K>R		No	ClinGen ExAC TOPMed gnomAD
rs765160346 CA1172333	519	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1172332 rs550151475	519	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776414724 CA1172331	520	N>S		No	ClinGen ExAC gnomAD
rs1159025120 CA342957176	530	D>H		No	ClinGen gnomAD
CA342957177 rs1159025120	530	D>N		No	ClinGen gnomAD
CA1172330 rs768258429	533	R>Q		No	ClinGen ExAC
CA342957142 rs146077424	534	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA342957140 rs1337265856	535	P>A		No	ClinGen TOPMed gnomAD
CA342957139 COSM1688794 rs1337265856	535	P>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA31145879 rs1019543138	536	I>V		No	ClinGen TOPMed
CA342957119 rs1478510470	538	K>R		No	ClinGen TOPMed
rs866137543 CA31145875	541	G>R		No	ClinGen Ensembl
CA31145871 rs1009574492	544	K>*		No	ClinGen TOPMed
CA342957078 rs1444856552	544	K>R		No	ClinGen gnomAD
CA31145870 rs967640905	545	S>N		No	ClinGen Ensembl
rs377474581 CA1172328	549	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA342957013 rs369872867	552	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369872867 CA1172312	552	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1226759700 CA342956985	556	S>C		No	ClinGen gnomAD
CA342956982 rs891871634	557	P>S		No	ClinGen TOPMed gnomAD
rs891871634 CA31145204	557	P>T		No	ClinGen TOPMed gnomAD
rs1303011750 CA342956357	560	V>G		No	ClinGen TOPMed
CA1172299 rs751825407	562	P>L		No	ClinGen ExAC gnomAD
rs757106673 CA1172297	564	N>I		No	ClinGen ExAC TOPMed gnomAD
rs757106673 CA1172298	564	N>S		No	ClinGen ExAC TOPMed gnomAD
rs764104419 CA1172295	577	Q>R		No	ClinGen ExAC gnomAD
CA31142562 rs923379396	578	Y>C		No	ClinGen TOPMed gnomAD
rs1465445004 CA342956029	580	A>D		No	ClinGen gnomAD
CA1172294 rs368035698	581	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs368035698 COSM238837 CA31142555	581	P>S	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA342956005 rs1424610436	582	E>*		No	ClinGen gnomAD
CA342955962 rs1278628020	585	T>A		No	ClinGen TOPMed
CA1172293 rs150407868	585	T>R		No	ClinGen ESP ExAC
rs1326426735 COSM212484 CA342955936	587	R>*	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1486825154 CA1172291	587	R>Q		No	ClinGen TOPMed
rs767186090 CA1172290	588	L>F		No	ClinGen ExAC gnomAD
CA342955928 rs767186090	588	L>V		No	ClinGen ExAC gnomAD
rs1239043851 CA342955908	589	S>L		No	ClinGen TOPMed gnomAD
rs1239043851 CA342955911	589	S>W		No	ClinGen TOPMed gnomAD
rs1170197870 CA342955887	590	T>N		No	ClinGen gnomAD
CA1172287 rs373614724	591	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342955863 rs1194659069	592	S>N		No	ClinGen gnomAD
CA1172286 rs763391972	593	F>S		No	ClinGen ExAC gnomAD
CA342955841 rs1311499372	594	P>A		No	ClinGen gnomAD
rs773386276 CA1172285	595	E>Q		No	ClinGen ExAC gnomAD
CA31142499 rs990165053	596	D>A		No	ClinGen TOPMed
rs770193240 CA1172284	599	E>Q		No	ClinGen ExAC gnomAD
CA1172283 rs748708118	600	S>N		No	ClinGen ExAC gnomAD
CA31140239 rs865828085	603	S>L		No	ClinGen Ensembl
rs764588973 CA1172245	604	R>C		No	ClinGen ExAC TOPMed gnomAD
rs572541304 CA1172244	604	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342954868 rs1332964613	605	S>T		No	ClinGen gnomAD
rs1269730549 CA342954857	606	E>K		No	ClinGen TOPMed
CA1172242 rs555881730	607	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1388884489 CA342954828	608	R>C		No	ClinGen TOPMed gnomAD
rs969648888 CA31140212	608	R>H		No	ClinGen TOPMed gnomAD
CA342954822 rs969648888	608	R>L		No	ClinGen TOPMed gnomAD
rs1311012861 COSM1240858 CA342954409	611	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1023373233 CA31140209	611	R>H		No	ClinGen TOPMed
COSM1498795 CA342954397 rs1571197978	612	S>C	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1377735076 CA342954364	615	L>F		No	ClinGen TOPMed gnomAD
CA1172240 rs774459605	616	K>R		No	ClinGen ExAC gnomAD
CA342954335 rs1455906639	617	G>D		No	ClinGen TOPMed gnomAD
CA31140179 rs746951880	618	R>P		No	ClinGen ExAC TOPMed gnomAD
rs746951880 CA1172236	618	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1172237 rs781203680	618	R>W		No	ClinGen ExAC gnomAD
rs746964946 CA1172235	621	M>R		No	ClinGen ExAC gnomAD
rs757875282 CA342954270	623	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1172233 rs757875282	623	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780005478 CA1172234	623	R>W		No	ClinGen ExAC gnomAD
CA342954264 rs1232654075	624	S>T		No	ClinGen gnomAD
CA31140132 rs749896940	625	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1172232 rs749896940	625	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1265248620 CA342954239	627	A>T		No	ClinGen TOPMed
rs962497593 CA342954207	629	N>K		No	ClinGen gnomAD
CA1172231 rs377678134	630	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172230 rs756834160	631	P>A		No	ClinGen ExAC gnomAD
rs1415918437 CA342954182	632	R>C		No	ClinGen gnomAD
CA342954180 rs1402843828	632	R>H		No	ClinGen gnomAD
rs535977465 CA1172229	634	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764499218 CA1172228	634	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777638512 CA31140123	635	S>N		No	ClinGen Ensembl
rs761071101 CA1172227	638	D>H		No	ClinGen ExAC gnomAD
rs753176238 CA1172226	639	M>V		No	ClinGen ExAC gnomAD
CA1172224 rs142168815	643	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172222 rs556758571	646	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA342954031 rs556758571	646	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs200051467 CA31140112	647	R>C		No	ClinGen 1000Genomes
rs773549450 CA1172220	647	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773549450 CA1172221	647	R>L		No	ClinGen ExAC TOPMed gnomAD
CA342954010 rs1571197155	648	L>P		No	ClinGen Ensembl
CA342954003 rs768608839	649	H>P		No	ClinGen ExAC gnomAD
rs768608839 CA1172219	649	H>R		No	ClinGen ExAC gnomAD
CA1172218 rs746774138	650	Q>R		No	ClinGen ExAC gnomAD
rs1241216793 CA342953968	652	A>V		No	ClinGen TOPMed gnomAD
rs1442514902 CA342953937	656	T>P		No	ClinGen TOPMed
rs1571196975 CA342953926	657	S>P		No	ClinGen Ensembl
CA1172216 rs771985424	659	L>V		No	ClinGen ExAC gnomAD
rs1165139631 CA342953896	661	T>A		No	ClinGen TOPMed
CA342953890 rs1208829836	661	T>I		No	ClinGen gnomAD
rs565199700 CA1172187	664	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342953804 rs1474400891	665	E>K		No	ClinGen gnomAD
CA342953782 rs1571195880	666	N>T		No	ClinGen Ensembl
rs758569904 CA1172186	667	P>A		No	ClinGen ExAC gnomAD
CA342953763 rs1194940357	668	T>A		No	ClinGen gnomAD
CA342953764 rs1194940357	668	T>P		No	ClinGen gnomAD
rs750469074 CA1172185	669	P>A		No	ClinGen ExAC gnomAD
CA31139937 rs1050814611	670	P>L		No	ClinGen Ensembl
rs148854882 CA31139936	671	F>L		No	ClinGen ESP TOPMed gnomAD
rs149660932 CA1172184	672	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA31139932 rs778595029	674	K>T		No	ClinGen Ensembl
rs762160091 CA1172183	675	M>V		No	ClinGen ExAC gnomAD
rs776704113 CA1172182	676	G>S		No	ClinGen ExAC gnomAD
CA1172181 COSM1984864 rs193163419	677	R>C	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs527668217 CA1172180	677	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342953664 rs527668217	677	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342953551 rs1361188495	679	S>R		No	ClinGen TOPMed
rs774067407 CA1172158	680	I>T		No	ClinGen ExAC gnomAD
rs766160542 CA1172157	681	E>V		No	ClinGen ExAC gnomAD
rs762938728 CA1172156	683	P>A		No	ClinGen ExAC TOPMed gnomAD
rs868609688 CA31139596	683	P>L		No	ClinGen TOPMed gnomAD
CA342953482 rs762938728	683	P>S		No	ClinGen ExAC TOPMed gnomAD
CA342953471 rs1307820680	684	S>C		No	ClinGen TOPMed
CA31139592 rs146877289	685	L>S		No	ClinGen ESP TOPMed
rs776364801 CA1172152	692	L>F		No	ClinGen ExAC gnomAD
CA31139566 rs199547287	696	L>P		No	ClinGen 1000Genomes
rs768362121 CA1172151	698	E>K		No	ClinGen ExAC gnomAD
CA1172150 rs140107789	699	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172149 rs780630478	700	D>A		No	ClinGen ExAC gnomAD
rs780630478 CA342953227	700	D>G		No	ClinGen ExAC gnomAD
rs746425691 CA1172147	702	G>D		No	ClinGen ExAC gnomAD
rs772550559 CA1172148	702	G>S		No	ClinGen ExAC gnomAD
CA31139504 rs200796136	707	L>V		No	ClinGen 1000Genomes
rs1033274589 CA31139502	708	E>Q		No	ClinGen Ensembl
CA342953097 rs535925967	711	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1172145 rs535925967	711	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421552146 CA342953079	712	D>E		No	ClinGen TOPMed gnomAD
rs778062792 CA1172143	712	D>G		No	ClinGen ExAC gnomAD
CA1172144 rs753803764	712	D>N		No	ClinGen ExAC gnomAD
CA1172142 rs756397071	713	A>D		No	ClinGen ExAC gnomAD
CA31139487 rs865995605	714	Q>*		No	ClinGen Ensembl
rs752905374 CA1172141	714	Q>R		No	ClinGen ExAC gnomAD
CA1172140 rs766214284	716	W>S		No	ClinGen ExAC gnomAD
CA31139480 rs1000478158	719	T>A		No	ClinGen Ensembl
CA342952884 rs1182423697	723	D>V		No	ClinGen TOPMed gnomAD
CA1172137 rs765031844	725	V>L		No	ClinGen ExAC gnomAD
rs141876285 CA1172135	726	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA342952855 rs141876285	726	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172134 rs768274345	727	G>W		No	ClinGen ExAC gnomAD
rs1557838551 CA342952779	731	R>Q		No	ClinGen Ensembl
CA31139458 rs1017809905	731	R>W		No	ClinGen TOPMed gnomAD
CA31139447 rs569958828	733	I>M		No	ClinGen TOPMed gnomAD
CA342952750 rs1315249619	733	I>T		No	ClinGen gnomAD
rs568935748 CA1172132	735	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342952662 rs1571193071	738	V>G		No	ClinGen Ensembl
rs550473847 CA1172130	738	V>I		No	ClinGen 1000Genomes ExAC
rs1331173474 CA342952565	743	F>V		No	ClinGen TOPMed
rs755707469 CA1172099	751	R>C		No	ClinGen ExAC gnomAD
CA342952502 rs1226129888	753	L>V		No	ClinGen TOPMed
rs774378017 COSM1498797 CA31139049	754	R>Q	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs752188281 CA1172098	754	R>W		No	ClinGen ExAC TOPMed gnomAD
CA342952489 rs1205554523	755	V>G		No	ClinGen TOPMed
CA342952467 rs1271542554	759	I>N		No	ClinGen Ensembl
rs1333083907 CA342952437	763	R>Q		No	ClinGen TOPMed gnomAD
rs1571190764 CA342952412	766	K>M		No	ClinGen Ensembl
rs199588972 CA1172095	771	P>H		No	ClinGen ExAC TOPMed gnomAD
rs766691611 CA1172094	772	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs763333115 CA1172093	773	E>K		No	ClinGen ExAC TOPMed gnomAD
rs765651948 CA1172091	776	A>G		No	ClinGen ExAC gnomAD
rs765651948 CA342952346	776	A>V		No	ClinGen ExAC gnomAD
CA1172089 rs375505289	777	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs149348658 CA1172090	777	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs747246966 CA1172087	780	P>L		No	ClinGen ExAC TOPMed gnomAD
rs146069457 CA1172083	783	P>L		No	ClinGen ESP ExAC gnomAD
rs146069457 CA342952306	783	P>R		No	ClinGen ESP ExAC gnomAD
rs756187017 CA1172082	784	E>D		No	ClinGen ExAC
CA1172081 rs367905958	786	I>L		No	ClinGen ESP ExAC gnomAD
rs1311681093 CA342952288	786	I>M		No	ClinGen gnomAD
CA1172080 rs367905958	786	I>V		No	ClinGen ESP ExAC gnomAD
CA342952285 rs1240623141	787	E>Q		No	ClinGen gnomAD
CA1172079 rs754476931	790	N>D		No	ClinGen ExAC gnomAD
CA1172056 rs765642854	790	N>S		No	ClinGen ExAC gnomAD
CA342952232 rs1384759451	792	W>C		No	ClinGen gnomAD
CA1172055 rs762136245	793	C>R		No	ClinGen ExAC gnomAD
rs754335982 CA1172054	793	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA1172053 rs764614471	795	A>G		No	ClinGen ExAC TOPMed gnomAD
CA342952199 rs1557836408	797	K>R		No	ClinGen Ensembl
CA342952195 rs905496300	798	K>E		No	ClinGen gnomAD
CA31138720 rs905496300	798	K>Q		No	ClinGen gnomAD
CA342952182 rs1265416753	800	R>G		No	ClinGen TOPMed gnomAD
rs1176316651 CA342952180	800	R>Q		No	ClinGen TOPMed
CA342952181 rs1265416753	800	R>W		No	ClinGen TOPMed gnomAD
rs775574153 CA1172051	802	E>G		No	ClinGen ExAC gnomAD
rs370161874 CA1172050	803	G>D		No	ClinGen ESP ExAC gnomAD
rs768728187 CA31138717	803	G>S		No	ClinGen gnomAD
CA342952152 rs1047545249	805	I>L		No	ClinGen TOPMed gnomAD
CA31138706 rs1047545249	805	I>V		No	ClinGen TOPMed gnomAD
rs1299695548 CA342952115	810	S>G		No	ClinGen TOPMed
rs1356718570 CA342952098	812	L>F		No	ClinGen gnomAD
CA31138658 rs774681732	813	M>L		No	ClinGen ExAC gnomAD
CA1172048 rs774681732	813	M>V		No	ClinGen ExAC gnomAD
rs200759533 CA1172047	816	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1231375268 CA342952075	816	R>W		No	ClinGen gnomAD
rs978254368 CA31138486	817	F>L		No	ClinGen TOPMed
rs768326569 CA1172026	818	D>H		No	ClinGen ExAC gnomAD
rs1161480523 CA342952041	819	G>V		No	ClinGen TOPMed
rs878884682 CA31138462	820	P>A		No	ClinGen Ensembl
rs775262686 CA1172024	821	A>S		No	ClinGen ExAC gnomAD
rs369608695 CA1172023	822	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1172022 rs745336256	822	R>Q		No	ClinGen ExAC gnomAD
CA1172020 rs532511886	823	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA1172021 COSM222576 rs140327421	823	E>K	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA342952017 rs1191547173	824	E>G		No	ClinGen TOPMed gnomAD
rs1191547173 CA342952016	824	E>V		No	ClinGen TOPMed gnomAD
rs763106786 CA1172019	829	A>S		No	ClinGen ExAC gnomAD
rs778249084 CA1172018	829	A>V		No	ClinGen ExAC gnomAD
CA1172016 rs753276779	833	C>S		No	ClinGen ExAC TOPMed gnomAD
CA342951949 rs1435635250	834	S>Y		No	ClinGen gnomAD
CA1172014 rs149020405	838	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766557926 CA1172012	841	E>V		No	ClinGen ExAC gnomAD
CA342951896 rs1282811742	842	L>R		No	ClinGen TOPMed
rs1452320020 CA342951900	842	L>V		No	ClinGen TOPMed
CA31138401 rs770757033	843	I>L		No	ClinGen gnomAD
CA342951877 rs1359005635	845	T>S		No	ClinGen TOPMed
CA1172010 rs773288099	847	Q>E		No	ClinGen ExAC gnomAD
CA1172009 rs763992245	848	R>C		No	ClinGen ExAC gnomAD
rs760350447 CA1172008	848	R>H		No	ClinGen ExAC gnomAD
rs760350447 CA342951851	848	R>L		No	ClinGen ExAC gnomAD
CA342951821 rs1395966205	851	S>N		No	ClinGen gnomAD
CA342951806 rs1336270326	852	R>Q		No	ClinGen TOPMed gnomAD
CA1171984 rs762318652	859	E>D		No	ClinGen ExAC gnomAD
rs1195462527 CA342951209	861	E>D		No	ClinGen gnomAD
CA342951202 rs1416947732	862	S>I		No	ClinGen TOPMed gnomAD
rs1571182256 CA342951196	863	H>P		No	ClinGen Ensembl
CA31137909 rs1007362361	864	P>T		No	ClinGen Ensembl
CA342951168 rs1215526016	867	R>Q		No	ClinGen gnomAD
CA342951169 rs1259740199	867	R>W		No	ClinGen gnomAD
rs1571182062 CA342951132	873	D>A		No	ClinGen Ensembl
rs1385362147 CA342951135	873	D>N		No	ClinGen Ensembl
CA31137883 rs112946239	874	L>F		No	ClinGen TOPMed
rs1275662717 CA342951107	877	S>P		No	ClinGen gnomAD
rs747828162 CA1171981	879	M>I		No	ClinGen ExAC gnomAD
CA342951063 rs1354943496	883	T>S		No	ClinGen gnomAD
rs1401866125 CA342951040	886	P>L		No	ClinGen gnomAD
CA342951012 rs1557833973	891	S>T		No	ClinGen Ensembl
rs933337294 CA31137808	892	I>V		No	ClinGen Ensembl
CA342950998 rs1362930875	893	I>T		No	ClinGen gnomAD
rs1428455144 CA342950984	895	H>L		No	ClinGen gnomAD
CA342950982 rs1428455144	895	H>R		No	ClinGen gnomAD
rs1350363617 CA342950931	901	S>C		No	ClinGen gnomAD
CA342950912 rs1233308430	904	E>K		No	ClinGen gnomAD
CA342950898 rs1368498854	905	K>N		No	ClinGen gnomAD
rs777922485 CA1171951	908	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA342950883 rs1309141293	908	R>W		No	ClinGen gnomAD
CA31137350 rs935450363	909	A>T		No	ClinGen Ensembl
rs754779301 CA1171950	909	A>V		No	ClinGen ExAC
CA1171949 rs751287525	910	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1171948 rs368365495	910	R>Q		No	ClinGen ESP ExAC gnomAD
CA342950876 rs751287525	910	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1171947 rs758321102	912	Q>E		No	ClinGen ExAC gnomAD
rs764698019 CA1171945	914	R>Q		No	ClinGen ExAC gnomAD
CA1171944 rs761370827	915	E>K		No	ClinGen ExAC TOPMed
rs1172615499 CA342950838	916	I>V		No	ClinGen gnomAD
CA342950822 rs1320868532	918	K>R		No	ClinGen Ensembl
CA342950813 rs776447835	919	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1041459347 CA31137301	919	Y>C		No	ClinGen TOPMed
rs1420230862 CA342950784 COSM897477	923	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA31137285 rs947112762	924	V>I		No	ClinGen Ensembl
rs1571176550 CA342950744	929	N>T		No	ClinGen Ensembl
rs140673049 CA1171940	930	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs772471518 CA1171939	930	R>H		No	ClinGen ExAC gnomAD
CA1171938 rs746411291	931	H>Q		No	ClinGen ExAC gnomAD
rs1477828642 CA342950732	931	H>R		No	ClinGen TOPMed
rs774880850 CA1171937	932	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1239436363 CA342950713	934	E>A		No	ClinGen gnomAD
CA1171935 rs749305989	936	Y>H		No	ClinGen ExAC gnomAD
CA342950677 rs1416155472	939	R>H		No	ClinGen TOPMed gnomAD
rs201704289 CA1171934	942	A>S		No	ClinGen ExAC gnomAD
CA1171933 rs756391179	943	T>A		No	ClinGen ExAC gnomAD
CA342950650 rs779758499	944	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1171931 rs779758499	944	A>T		No	ClinGen ExAC TOPMed gnomAD
CA342950631 rs1160686108	947	R>K		No	ClinGen gnomAD
rs765177396 CA1171928	948	A>S		No	ClinGen ExAC gnomAD
rs765177396 CA1171929	948	A>T		No	ClinGen ExAC gnomAD
rs756843282 CA1171927	949	S>T		No	ClinGen ExAC gnomAD
CA342950590 rs1258276688	954	A>T		No	ClinGen TOPMed gnomAD
CA31137190 rs763693835	955	E>G		No	ClinGen ExAC TOPMed gnomAD
rs763693835 CA1171925	955	E>V		No	ClinGen ExAC TOPMed gnomAD
CA342950546 rs1259376462	958	S>N		No	ClinGen TOPMed gnomAD
CA31136736 rs1034103361	958	S>R		No	ClinGen TOPMed
CA342950519 rs1215285681	962	T>I		No	ClinGen gnomAD
COSM140382 CA342950521 rs1215285681	962	T>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1171905 rs143704080	963	T>A		No	ClinGen ESP ExAC gnomAD
rs1230939373 CA342950506	965	K>E		No	ClinGen gnomAD
rs773336040 CA1171904	965	K>R		No	ClinGen ExAC gnomAD
CA1171903 rs769838333	967	I>N		No	ClinGen ExAC gnomAD
CA1171901 rs191272583	971	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA1171900 rs758153538	971	P>L		No	ClinGen ExAC gnomAD
CA342950402 rs1365793992	976	I>M		No	ClinGen TOPMed
rs981056189 CA31136708	976	I>V		No	ClinGen TOPMed
CA1171898 rs779001906	977	S>N		No	ClinGen ExAC gnomAD
rs892887738 CA31136693	981	T>A		No	ClinGen gnomAD
CA31136665 rs971068668	982	L>F		No	ClinGen TOPMed
CA31136688 rs373698336	982	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs978080850 CA31136406	984	L>F		No	ClinGen Ensembl
CA342950263 rs1280099053	986	V>M		No	ClinGen gnomAD
CA342950253 rs1376172498	987	L>M		No	ClinGen gnomAD
CA1171868 rs765677808	990	E>D		No	ClinGen ExAC gnomAD
CA1171867 rs761807587	993	L>P		No	ClinGen ExAC gnomAD
rs776840720 CA1171866	994	V>L		No	ClinGen ExAC gnomAD
rs962601496 CA31136369	996	L>P		No	ClinGen TOPMed gnomAD
rs575807233 CA1171863	999	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA1171862 rs770882402	1005	L>V		No	ClinGen ExAC gnomAD
rs777855937 CA1171860	1006	K>N		No	ClinGen ExAC gnomAD
rs769837276 CA1171859	1010	K>N		No	ClinGen ExAC TOPMed gnomAD
CA342950018 rs1208479493	1012	A>P		No	ClinGen gnomAD
rs1319093501 CA342950012	1012	A>V		No	ClinGen gnomAD
rs748021803 CA1171858	1013	V>M		No	ClinGen ExAC gnomAD
CA1171857 rs374600926	1015	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA342949851 rs1415431830	1029	N>D		No	ClinGen gnomAD
CA1171854 rs370713584	1031	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA342949722 rs1358522604	1041	R>Q		No	ClinGen gnomAD
rs746467759 CA1171838 COSM256343	1041	R>W	oesophagus large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1171837 rs779687676	1042	A>P		No	ClinGen ExAC gnomAD
CA342949697 rs1397462437	1045	I>F		No	ClinGen TOPMed
rs1277287576 CA342949662	1050	K>R		No	ClinGen Ensembl
rs757531818 CA1171833	1061	A>S		No	ClinGen ExAC TOPMed gnomAD
rs767691308 CA1171829	1066	D>E		No	ClinGen ExAC gnomAD
CA1171828 rs767691308	1066	D>E		No	ClinGen ExAC gnomAD
rs759886091 CA1171827	1067	K>R		No	ClinGen ExAC gnomAD
CA1171825 rs765107927	1069	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1327921962 CA342949518	1070	W>C		No	ClinGen gnomAD
CA342949470 rs1416021095	1076	E>D		No	ClinGen gnomAD
rs527422829 CA1171801	1077	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1453457528 CA342949467	1077	A>S		No	ClinGen gnomAD
CA342949469 rs1453457528	1077	A>T		No	ClinGen gnomAD
CA1171802 rs527422829	1077	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1171800 rs771602528	1078	V>M		No	ClinGen ExAC TOPMed gnomAD
rs372927162 CA1171799	1079	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA31132586 rs1052112229	1079	R>W		No	ClinGen TOPMed gnomAD
CA342949438 rs1454786053	1082	T>N		No	ClinGen gnomAD
CA342949435 rs1338700885	1083	R>K		No	ClinGen TOPMed gnomAD
CA342949427 rs1571155198	1084	H>P		No	ClinGen Ensembl
rs201702443 CA31132562	1084	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342949422 rs1157036770	1085	P>A		No	ClinGen gnomAD
rs529921313 CA1171795	1086	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748692640 CA1171793	1087	A>D		No	ClinGen ExAC TOPMed gnomAD
rs770252686 CA1171794	1087	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1171792 rs199858760	1088	A>V		No	ClinGen ExAC gnomAD
CA1171790 rs35187704	1090	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1171789 rs35187704	1090	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755118780 CA1171791	1090	M>V		No	ClinGen ExAC gnomAD
CA1171788 rs758609193	1091	P>L		No	ClinGen ExAC gnomAD
COSM1319879 rs143001729 CA1171786	1092	V>I	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1242136921 CA342949377	1093	H>R		No	ClinGen TOPMed gnomAD
CA342949369 rs1381022717	1094	P>L		No	ClinGen TOPMed
CA1171784 rs752654159	1094	P>S		No	ClinGen ExAC gnomAD
CA342949367 rs145819274	1095	P>A		No	ClinGen ESP
rs145819274 CA31132388	1095	P>S		No	ClinGen ESP
rs767386127 CA1171783	1096	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1320731150 CA342949361	1096	P>S		No	ClinGen gnomAD
rs1320731150 CA342949363	1096	P>T		No	ClinGen gnomAD
rs762551771 CA1171779	1097	P>Q		No	ClinGen ExAC gnomAD
rs140840968 CA1171780	1097	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770300084 CA342949346	1099	P>H		No	ClinGen ExAC TOPMed gnomAD
CA1171777 rs770300084	1099	P>R		No	ClinGen ExAC TOPMed gnomAD
rs772959897 CA1171778	1099	P>S		No	ClinGen ExAC gnomAD
rs145341956 CA1171776	1100	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1183487 rs1288237514 CA342949343	1100	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA31132353 rs974118824	1101	E>G		No	ClinGen Ensembl
rs1448630559 CA342949332	1102	P>A		No	ClinGen gnomAD
CA1171774 rs769350975	1103	A>T		No	ClinGen ExAC gnomAD
CA342949308 rs1215451616	1105	Q>H		No	ClinGen gnomAD
rs747540330 CA1171773	1106	G>S		No	ClinGen ExAC gnomAD
CA1171772 rs780050689	1106	G>V		No	ClinGen ExAC gnomAD
CA31132350 rs866557164	1107	P>S		No	ClinGen Ensembl
CA1171771 rs758477470	1108	T>P		No	ClinGen ExAC TOPMed gnomAD
CA31132338 rs372172835	1109	P>S		No	ClinGen Ensembl
CA1171770 rs372040797	1110	S>I		No	ClinGen ESP ExAC gnomAD
CA342949281 rs1170999664	1110	S>R		No	ClinGen gnomAD
CA31131896 rs769045413	1114	L>M		No	ClinGen ExAC TOPMed gnomAD
CA1171755 rs776030127	1115	D>Y		No	ClinGen ExAC gnomAD
CA31131868 rs931400340	1116	D>A		No	ClinGen TOPMed
rs1337580831 CA342949223	1116	D>N		No	ClinGen gnomAD
rs745891824 CA1171754	1118	D>E		No	ClinGen ExAC TOPMed gnomAD
rs150785632 CA1171752	1119	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA342949172 rs1175291387	1121	H>Y		No	ClinGen gnomAD
CA342949159 rs1189374222	1122	G>C		No	ClinGen TOPMed
CA342949155 rs1368910432	1122	G>V		No	ClinGen TOPMed
CA342949144 rs1414767965	1123	E>D		No	ClinGen gnomAD
rs376985311 CA1171750	1126	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs754762267 CA1171748	1128	E>Q		No	ClinGen ExAC gnomAD
rs1251875257 CA342949087	1129	L>V		No	ClinGen gnomAD
rs899812665 CA31131812	1131	G>E		No	ClinGen TOPMed
CA1171746 rs766277396	1131	G>R		No	ClinGen ExAC gnomAD
CA1171727 rs750366645	1132	G>V		No	ClinGen ExAC gnomAD
CA1171726 rs148237254	1133	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs753571729 CA31130783	1137	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs753571729 CA1171724	1137	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1171723 rs375918708	1138	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs760952715 CA1171722	1138	R>S		No	ClinGen ExAC gnomAD
CA342948972 rs375918708	1138	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA342948935 rs1358872679	1143	H>P		No	ClinGen TOPMed
rs1389302147 CA342948918	1144	Q>H		No	ClinGen gnomAD
rs1053180991 CA31130753	1144	Q>R		No	ClinGen Ensembl
rs1340604437 CA342948916	1145	V>L		No	ClinGen TOPMed
CA1171721 rs753174533	1146	L>V		No	ClinGen ExAC TOPMed gnomAD
rs760075021 CA1171719	1149	D>N		No	ClinGen ExAC gnomAD
CA1171717 rs771019976	1152	Q>E		No	ClinGen ExAC gnomAD
rs1208615305 CA342948836	1153	E>K		No	ClinGen gnomAD
rs372368827 CA31130701	1154	G>S		No	ClinGen ESP gnomAD
CA1171714 rs770117447	1155	S>R		No	ClinGen ExAC gnomAD
CA342948805 rs1446406820	1156	A>T		No	ClinGen TOPMed
CA342948777 rs1571142479	1159	E>K		No	ClinGen Ensembl
CA1171713 rs748301913	1159	E>V		No	ClinGen ExAC TOPMed gnomAD
CA1171712 rs779946045	1160	E>K		No	ClinGen ExAC gnomAD
CA342948740 rs1296851122	1162	G>V		No	ClinGen gnomAD
rs745832377 CA1171710	1163	V>I		No	ClinGen ExAC gnomAD
rs955483213 CA31130637	1166	C>R		No	ClinGen TOPMed
rs369690909 CA31130630	1169	T>I		No	ClinGen ESP TOPMed
CA342948688 rs1238791279	1169	T>S		No	ClinGen TOPMed
CA31130614 rs138384982	1172	D>H		No	ClinGen ESP
rs1557820402 CA342948658	1172	D>V		No	ClinGen Ensembl
CA342948652 rs1205406139	1173	G>R		No	ClinGen TOPMed
CA342948615 rs1172087811	1176	R>G		No	ClinGen gnomAD
rs868403267 CA31130610	1177	G>V		No	ClinGen Ensembl
CA31130596 rs943632501	1178	I>L		No	ClinGen Ensembl
CA342948539 rs1391143895	1179	R>K		No	ClinGen gnomAD
CA1171706 rs148163117	1179	R>S		No	ClinGen 1000Genomes ExAC TOPMed
rs1188266506 CA342948522	1182	N>D		No	ClinGen gnomAD
rs1571142033 CA342948519	1182	N>T		No	ClinGen Ensembl
rs1440519382 CA342948503	1184	I>M		No	ClinGen TOPMed
rs777146439 CA1171705	1184	I>T		No	ClinGen ExAC TOPMed gnomAD
rs377353699 CA1171704	1185	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA342948481 rs1488189502	1188	F>L		No	ClinGen gnomAD
CA31130581 rs1012082563	1189	P>S		No	ClinGen TOPMed gnomAD
CA1171703 rs752258483	1190	G>D		No	ClinGen ExAC gnomAD
CA1171702 rs767953692	1191	P>S		No	ClinGen ExAC TOPMed gnomAD
CA342948458 rs1273688676	1192	L>V		No	ClinGen gnomAD
CA1171701 rs755283148	1194	M>L		No	ClinGen ExAC gnomAD
rs1313898412 CA342948443	1194	M>T		No	ClinGen gnomAD
rs1301883548 CA342948430	1196	G>R		No	ClinGen gnomAD
rs1385802093 CA342948419	1197	L>R		No	ClinGen gnomAD
rs144803270 CA1171700	1198	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1171699 rs144803270	1198	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA31130559 rs910764584	1198	A>V		No	ClinGen gnomAD
CA342948409 rs1369508971	1199	D>E		No	ClinGen gnomAD
CA342948403 rs1168356452	1200	S>C		No	ClinGen gnomAD
CA1171696 rs548296599	1201	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA342948395 rs1455523064	1202	L>V		No	ClinGen TOPMed
rs1571141502 CA342948390	1203	E>K		No	ClinGen Ensembl
rs1177418202 CA342948383	1204	D>N		No	ClinGen gnomAD
rs1158723672 CA342948339	1208	L>P		No	ClinGen gnomAD
rs1036932379 COSM897473 CA342948337	1209	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1036932379 CA31130257	1209	R>G		No	ClinGen gnomAD
CA1171669 rs749276417	1209	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772970922 CA1171668	1210	H>R		No	ClinGen ExAC gnomAD
rs188240595 CA1171667	1211	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1171664 rs754683030	1214	W>R		No	ClinGen ExAC TOPMed gnomAD
rs532988298 CA1171663	1215	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342948281 rs1249891747	1218	P>L		No	ClinGen gnomAD
CA342948283 rs1249891747	1218	P>Q		No	ClinGen gnomAD
CA342948286 rs1421817780	1218	P>S		No	ClinGen gnomAD
rs1189100335 CA342948277	1219	G>D		No	ClinGen gnomAD
CA1171662 rs145452145	1221	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs375950621 CA1171660	1227	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1171659 rs779230294	1228	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA1171657 rs754042311	1230	P>R		No	ClinGen ExAC
CA1171658 rs757362456	1230	P>S		No	ClinGen ExAC gnomAD
rs545151254 CA1171655	1231	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs372980428 COSM243037 CA1171656	1231	E>K	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs372980428 CA31130171	1231	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs202191925 CA1171653	1233	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1407094575 CA342948156	1234	L>R		No	ClinGen TOPMed gnomAD
rs773202369 CA1171651	1236	P>A		No	ClinGen ExAC gnomAD
rs375668144 CA31130118	1238	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1171650 rs375668144	1238	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA31130110 rs946796172	1240	V>A		No	ClinGen TOPMed
rs1248271231 CA342948095	1242	S>N		No	ClinGen TOPMed
rs111558417 COSM309253 CA1171648	1243	V>I	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1230975581 COSM1498801 CA342948064	1245	S>F	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1448796556 CA342948051 COSM1688791	1247	P>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1486417022 CA342948021	1250	P>S		No	ClinGen TOPMed
rs1200445744 CA342948010	1251	G>D		No	ClinGen gnomAD
CA342948007 rs1200445744	1251	G>V		No	ClinGen gnomAD
CA1171647 rs552902806	1252	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779635724 CA1171645	1254	G>V		No	ClinGen ExAC TOPMed gnomAD
rs746153844 CA1171643	1256	A>S		No	ClinGen ExAC gnomAD
rs746153844 CA342947971	1256	A>T		No	ClinGen ExAC gnomAD
CA1171641 rs757766993	1257	P>S		No	ClinGen ExAC TOPMed gnomAD
rs757766993 CA1171642	1257	P>T		No	ClinGen ExAC TOPMed gnomAD
rs992766463 CA31130030	1258	P>S		No	ClinGen TOPMed gnomAD
CA342947948 rs1360417670	1259	G>R		No	ClinGen gnomAD
rs149737746 CA1171640	1259	G>V		No	ClinGen ESP ExAC gnomAD
CA342947936 rs756211464	1260	G>A		No	ClinGen ExAC gnomAD
rs756211464 CA1171638	1260	G>D		No	ClinGen ExAC gnomAD
CA1171635 rs759795645	1264	N>T		No	ClinGen ExAC gnomAD
CA31129990 rs1031537229	1265	T>S		No	ClinGen Ensembl
CA342947871 rs1398561057	1267	L>F		No	ClinGen TOPMed
rs765057222 CA342947830	1271	E>D		No	ClinGen ExAC TOPMed gnomAD
rs750242942 CA1171634	1271	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA342947835 rs1435449172	1271	E>V		No	ClinGen Ensembl
CA342947824 rs1465369151	1272	G>E		No	ClinGen TOPMed
CA342947827 rs1571137120	1272	G>R		No	ClinGen Ensembl
CA31129976 rs928003294	1273	E>Q		No	ClinGen TOPMed
rs377475140 CA1171631	1274	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs567471201 CA1171632	1274	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342947725 rs1376601420	1278	E>K		No	ClinGen gnomAD
CA342947708 rs1196085044	1279	D>H		No	ClinGen gnomAD
CA342947706 rs1196085044	1279	D>Y		No	ClinGen gnomAD
CA1171629 rs113239140	1280	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768179545 CA1171630	1280	M>V		No	ClinGen ExAC gnomAD
rs775129678 CA1171628	1281	G>D		No	ClinGen ExAC gnomAD
rs771688817 CA1171627	1282	L>F		No	ClinGen ExAC gnomAD
rs779197564 CA1171624	1287	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA342947557 rs749845760	1289	P>A		No	ClinGen ExAC TOPMed gnomAD
rs565426652 CA1171621	1289	P>H		No	ClinGen ExAC gnomAD
rs749845760 CA1171622	1289	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749845760 CA342947560	1289	P>T		No	ClinGen ExAC TOPMed gnomAD
rs748302129 CA1171619	1290	P>A		No	ClinGen ExAC gnomAD
rs1352524866 CA342947534	1290	P>R		No	ClinGen gnomAD
CA342947542 rs748302129	1290	P>T		No	ClinGen ExAC gnomAD
CA342947532 rs1209847862	1291	R>G		No	ClinGen TOPMed
rs1335889194 CA342947508	1293	R>G		No	ClinGen gnomAD
rs746792104 CA31129893	1297	I>T		No	ClinGen Ensembl
rs755203907 CA1171617	1297	I>V		No	ClinGen ExAC gnomAD
CA1171616 rs751773190	1299	E>D		No	ClinGen ExAC TOPMed gnomAD
CA342947385 rs1473278166	1300	S>F		No	ClinGen gnomAD
CA342947306 rs1180964493	1306	N>S		No	ClinGen gnomAD
rs1021637337 CA31129872	1309	E>A		No	ClinGen Ensembl
CA1171614 rs568941052	1309	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1212636517 CA342947253	1310	D>G		No	ClinGen TOPMed gnomAD
CA1171613 rs753788298 COSM73719	1310	D>N	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA342947251 rs1212636517	1310	D>V		No	ClinGen TOPMed gnomAD
CA31129851 rs201769707	1311	A>T		No	ClinGen Ensembl
rs1456906907 CA342947229	1312	S>L		No	ClinGen Ensembl
CA1171612 rs763954751	1313	S>N		No	ClinGen ExAC gnomAD
CA342947179 rs1278520806	1316	A>V		No	ClinGen gnomAD
rs1201926129 CA342947176	1317	A>T		No	ClinGen gnomAD
CA1171611 rs760602366	1321	K>R		No	ClinGen ExAC gnomAD
rs550659351 CA1171610	1322	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342947100 rs1228041093	1323	V>L		No	ClinGen gnomAD
CA1171609 rs767035441	1324	R>K		No	ClinGen ExAC TOPMed gnomAD
rs759156231 CA1171608	1325	K>R		No	ClinGen ExAC gnomAD
rs774019160 CA1171607	1326	A>P		No	ClinGen ExAC gnomAD
CA342947048 rs774019160	1326	A>T		No	ClinGen ExAC gnomAD
rs773876775 CA1171588	1328	V>E		No	ClinGen ExAC TOPMed
rs1223081555 CA342946958	1328	V>M		No	ClinGen gnomAD
rs747208234 CA1171585	1331	S>I		No	ClinGen ExAC TOPMed gnomAD
rs747208234 CA1171586	1331	S>N		No	ClinGen ExAC TOPMed gnomAD
rs770250932 CA1171584	1333	V>I		No	ClinGen ExAC gnomAD
CA342946894 rs1385032922	1334	V>A		No	ClinGen gnomAD
rs931785780 CA31128882	1336	A>E		No	ClinGen gnomAD
rs748633125 CA1171583	1336	A>T		No	ClinGen ExAC gnomAD
rs931785780 CA342946875	1336	A>V		No	ClinGen gnomAD
CA31128850 rs970896989	1338	P>L		No	ClinGen TOPMed gnomAD
CA342946859 rs1186058970	1338	P>S		No	ClinGen gnomAD
CA342946849 rs369102506	1339	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA31128834 rs369102506	1339	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1171581 rs369102506	1339	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA342946830 rs1222555149	1341	G>S		No	ClinGen gnomAD
rs747046036 CA1171580	1343	S>*		No	ClinGen ExAC gnomAD
CA342946772 rs1454771419	1346	G>E		No	ClinGen Ensembl
CA31128818 rs376713953	1347	P>S		No	ClinGen ESP
CA342946750 rs1289360309	1348	P>R		No	ClinGen TOPMed gnomAD
rs1301599656 CA342946728	1350	V>G		No	ClinGen gnomAD
rs779995496 CA1171579	1350	V>M		No	ClinGen ExAC gnomAD
rs543271000 CA31128806	1351	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA342946710 rs1212334058	1352	G>D		No	ClinGen TOPMed gnomAD
rs142548089 CA342946701	1353	G>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1171577 rs142548089	1353	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750782824 CA31128764	1356	A>S		No	ClinGen Ensembl
rs141649554 CA1171576	1357	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA342946042 rs1467736600	1363	V>D		No	ClinGen TOPMed
rs769274309 CA1171563	1363	V>I		No	ClinGen ExAC TOPMed gnomAD
rs537627128 CA342946037	1364	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs537627128 CA1171562	1364	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs201107480 CA1171561	1366	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342946011 rs1427511392	1366	P>S		No	ClinGen gnomAD
rs746124381 CA1171559	1368	G>E		No	ClinGen ExAC TOPMed gnomAD
CA1171560 rs371772318	1368	G>R		No	ClinGen ESP ExAC gnomAD
rs367893154 CA1171558	1369	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3689060 CA342945972 rs1320754898	1370	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs138935998 CA1171555	1372	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138935998 CA1171554	1372	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774027159 CA1171553	1374	T>I		No	ClinGen ExAC gnomAD
rs1382037589 CA342945904	1375	D>N		No	ClinGen gnomAD
rs200575954 CA1171551	1377	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1479355873 CA342945854	1378	E>K		No	ClinGen gnomAD
rs1481908779 CA342945832	1380	P>S		No	ClinGen TOPMed
rs764914556 CA1171549	1381	M>L		No	ClinGen ExAC gnomAD
rs142488946 CA1171548	1381	M>T		No	ClinGen ESP ExAC TOPMed
CA1171547 rs565501314	1382	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1171546 rs761285774	1382	S>R		No	ClinGen ExAC gnomAD
CA1171545 rs761285774	1382	S>R		No	ClinGen ExAC gnomAD
rs1363384513 CA342945799	1383	P>H		No	ClinGen gnomAD
rs775939790 CA31127500	1384	P>A		No	ClinGen ExAC TOPMed gnomAD
CA342945792 rs1425327103	1384	P>L		No	ClinGen gnomAD
CA342945796 rs775939790	1384	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1171544 rs775939790	1384	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1256832154 CA342945788 COSM458537	1385	Q>*	cervix [Cosmic]	No	ClinGen cosmic curated gnomAD
CA342945775 rs1434991404	1386	P>S		No	ClinGen TOPMed
rs373746415 CA31127488	1388	S>N		No	ClinGen ESP TOPMed gnomAD
rs1019024690 CA31127483	1389	L>F		No	ClinGen gnomAD
rs1004836662 CA31127476	1390	P>L		No	ClinGen gnomAD
rs759557895 CA1171542	1391	A>V		No	ClinGen ExAC gnomAD
rs774563706 CA1171541	1394	T>R		No	ClinGen ExAC gnomAD
rs1452587409 CA342945660	1395	E>D		No	ClinGen TOPMed gnomAD
CA342945652 rs1381136751	1396	P>L		No	ClinGen gnomAD
CA31127435 rs1027493279	1397	Q>H		No	ClinGen Ensembl
CA1171538 rs370918950	1397	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776526653 CA1171537	1399	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA342945592 rs1162657232	1401	Q>H		No	ClinGen gnomAD
rs768295481 CA1171535	1401	Q>R		No	ClinGen ExAC gnomAD
CA31127426 rs368697194	1402	G>E		No	ClinGen ESP TOPMed
CA1171533 rs201325770	1403	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1171531 rs745439979	1404	N>K		No	ClinGen ExAC gnomAD
rs778555869 CA1171530	1405	D>N		No	ClinGen ExAC TOPMed gnomAD
rs753401313 CA1171528	1407	P>R		No	ClinGen ExAC gnomAD
CA342945480 rs1488579297	1408	R>S		No	ClinGen gnomAD
CA1171527 rs764554958	1409	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753218306 CA1171526 COSM676330	1409	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753218306 CA1171525	1409	R>P		No	ClinGen ExAC TOPMed gnomAD
rs202063053 CA1171524	1410	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342945467 rs1357995242	1410	P>S		No	ClinGen gnomAD
rs1228288756 CA342945444	1411	S>C		No	ClinGen TOPMed gnomAD
CA1171523 rs760020068	1411	S>I		No	ClinGen ExAC gnomAD
CA342945446 rs1228288756	1411	S>R		No	ClinGen TOPMed gnomAD
CA1171522 rs531379693	1412	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201607774 CA1171521 COSM206916	1412	R>H	large_intestine breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs201607774 CA342945427	1412	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1302325677 CA342945413	1414	P>L		No	ClinGen gnomAD
rs1366358826 CA342945417	1414	P>S		No	ClinGen TOPMed gnomAD
rs1248368238 CA342945402	1415	P>L		No	ClinGen TOPMed
rs868188 CA342945395	1416	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868188 VAR_061795 CA1171520	1416	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773257128 CA1171519	1418	A>V		No	ClinGen ExAC gnomAD
CA1171518 rs768508284	1419	L>F		No	ClinGen ExAC gnomAD
CA342945359 rs768508284	1419	L>V		No	ClinGen ExAC gnomAD
rs767043672 CA1171517	1420	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1557810976 CA342945351	1420	R>K		No	ClinGen Ensembl
rs374214558 CA1171515	1421	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs151281059 CA342945341	1421	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs775420084 CA1171516	1421	D>H		No	ClinGen ExAC gnomAD
COSM1235635 rs148727257 CA1171512	1422	V>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200237434 CA1171513	1422	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs144152945 CA1171510	1424	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144152945 CA1171511	1424	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756478981 CA1171509	1426	F>V		No	ClinGen ExAC gnomAD
rs945508 CA342945304	1427	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs945508 VAR_024285 CA1171508	1427	H>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1437871293 CA342945306	1427	H>Y		No	ClinGen TOPMed
CA342945296 rs1235441681	1428	T>A		No	ClinGen gnomAD
CA1171507 rs767842383	1428	T>N		No	ClinGen ExAC gnomAD
CA31127202 rs376286359	1429	I>L		No	ClinGen ExAC gnomAD
CA1171506 rs376286359	1429	I>V		No	ClinGen ExAC gnomAD
rs906576163 CA31127184	1431	Q>H		No	ClinGen Ensembl
CA342945242 rs1402916016	1433	T>I		No	ClinGen TOPMed gnomAD
CA1171505 rs139504725	1434	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA342945231 rs1329252220	1435	K>E		No	ClinGen gnomAD
rs766501957 CA1171504	1436	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1173876549 CA342945211	1437	N>Y		No	ClinGen gnomAD
CA1171503 rs762882489	1439	L>F		No	ClinGen ExAC gnomAD
rs762165960 CA1171481	1441	D>G		No	ClinGen ExAC gnomAD
rs762165960 CA342945134	1441	D>V		No	ClinGen ExAC gnomAD
rs1332079894 CA342945128	1442	M>V		No	ClinGen TOPMed gnomAD
rs529538605 CA1171480	1445	A>T		No	ClinGen ExAC TOPMed gnomAD
CA342945093 rs1476750078	1446	H>Y		No	ClinGen TOPMed
rs1334141317 CA342945080	1447	R>K		No	ClinGen gnomAD
CA31126738 rs773298947	1450	L>F		No	ClinGen TOPMed gnomAD
CA1171479 rs767443951	1450	L>P		No	ClinGen ExAC TOPMed gnomAD
rs774352167 CA1171477	1451	K>R		No	ClinGen ExAC gnomAD
CA1171476 rs770844615	1452	S>F		No	ClinGen ExAC gnomAD
CA1171475 rs772634099	1453	L>H		No	ClinGen ExAC TOPMed gnomAD
CA1171474 rs772634099	1453	L>P		No	ClinGen ExAC TOPMed gnomAD
rs199528886 CA1171473	1454	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1300519915 CA342945001	1455	G>V		No	ClinGen TOPMed
CA342944973 rs1181892230	1458	S>F		No	ClinGen gnomAD
rs1486870776 CA342944963	1459	G>V		No	ClinGen gnomAD
rs1215355867 CA342944958	1460	G>D		No	ClinGen TOPMed gnomAD
rs1242960387 CA342944960	1460	G>S		No	ClinGen gnomAD
rs1215355867 CA342944955	1460	G>V		No	ClinGen TOPMed gnomAD
CA1171472 rs373310420	1461	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs747398529 CA1171469	1462	T>M		No	ClinGen ExAC TOPMed gnomAD
rs769011895 CA1171470	1462	T>P		No	ClinGen ExAC gnomAD
rs1204729168 CA342944931	1463	P>L		No	ClinGen TOPMed
CA342944927 rs1362012869	1464	V>L		No	ClinGen TOPMed gnomAD
rs758878976 CA1171467	1465	G>V		No	ClinGen ExAC TOPMed gnomAD
rs150545454 CA1171466	1467	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs377284095 CA342944856	1471	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs377284095 CA1171465	1471	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425681148 CA342944851	1472	A>P		No	ClinGen TOPMed gnomAD
rs1425681148 CA342944849	1472	A>S		No	ClinGen TOPMed gnomAD
CA1171464 rs757365183	1473	R>K		No	ClinGen ExAC gnomAD
rs757365183 CA342944836	1473	R>T		No	ClinGen ExAC gnomAD
rs1187455714 CA342944779	1477	G>C		No	ClinGen gnomAD
CA342944765 rs1395182782	1478	S>C		No	ClinGen TOPMed
rs376125447 CA31126605	1480	S>L		No	ClinGen ESP gnomAD
CA31126597 rs560381442	1481	P>L		No	ClinGen 1000Genomes
rs1474559875 CA342944728	1481	P>S		No	ClinGen gnomAD
rs371571688 CA31126569	1482	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs866198565 CA31126540	1482	P>F		No	ClinGen Ensembl
rs1041575272 CA31126541	1482	P>L		No	ClinGen Ensembl
rs371571688 CA1171462	1482	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs888072823 CA31126517	1483	A>G		No	ClinGen TOPMed
rs1391722474 CA342944708	1483	A>T		No	ClinGen TOPMed
rs1571110591 CA342944681	1484	K>R		No	ClinGen Ensembl
rs751372327 CA1171460	1486	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1571110544 CA342944595	1490	D>A		No	ClinGen Ensembl
CA1171459 rs766162519	1492	R>K		No	ClinGen ExAC gnomAD
CA342944564 rs1292795539	1492	R>S		No	ClinGen TOPMed
rs1388447815 CA342944558	1493	N>D		No	ClinGen TOPMed
CA342944553 rs1571110453	1493	N>T		No	ClinGen Ensembl
CA1171456 rs764737591	1496	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1171455 rs761244639	1497	L>M		No	ClinGen ExAC gnomAD
rs1369365500 CA342944501	1497	L>P		No	ClinGen gnomAD
rs1344668552 CA342944482	1499	P>L		No	ClinGen TOPMed
CA1171450 rs746651179	1501	P>A		No	ClinGen ExAC gnomAD
CA31126423 rs983149415	1501	P>R		No	ClinGen Ensembl
CA1171448 rs772443320	1503	D>V		No	ClinGen ExAC gnomAD
CA1171449 rs775758890	1503	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1171393 rs148989479	1505	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1267122520 CA342944315	1506	D>G		No	ClinGen TOPMed gnomAD
rs752313950 CA342944311	1507	A>P		No	ClinGen ExAC TOPMed gnomAD
rs752313950 CA342944310	1507	A>S		No	ClinGen ExAC TOPMed gnomAD
rs752313950 CA1171391 COSM897470	1507	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs370417432 CA1171390	1508	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370417432 CA31125640	1508	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1287121405 CA342944304	1508	P>S		No	ClinGen TOPMed
rs763340024 CA1171386	1509	L>P		No	ClinGen ExAC gnomAD
rs770389157 CA1171384	1510	E>G		No	ClinGen ExAC gnomAD
CA1171385 rs773443279	1510	E>K		No	ClinGen ExAC gnomAD
CA342944292 rs1228225519	1511	D>H		No	ClinGen gnomAD
CA1171383 rs774194883	1512	S>G		No	ClinGen ExAC
rs201600990 CA342944281	1512	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201600990 CA1171382	1512	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774194883 CA342944284	1512	S>R		No	ClinGen ExAC
CA1171381 rs144132614	1513	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342944274 rs144132614	1513	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342944278 rs1404086835	1513	T>S		No	ClinGen Ensembl
CA342944260 rs199728828	1515	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1171379 rs377720314	1516	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs749150417 CA1171377	1517	A>T		No	ClinGen ExAC gnomAD
rs777420412 CA1171376	1517	A>V		No	ClinGen ExAC
CA1171374 COSM243036 rs748007604	1518	A>T	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs780789249 CA1171373	1518	A>V		No	ClinGen ExAC gnomAD
CA342944241 rs1334074410	1519	S>L		No	ClinGen TOPMed
rs751258316 CA1171371	1520	P>L		No	ClinGen ExAC gnomAD
CA31125461 rs949329084	1523	P>L		No	ClinGen Ensembl

No associated diseases with O15085

3 regional properties for O15085

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	103 - 287	IPR000219
domain	SH3 domain	8 - 67	IPR001452
domain	Rho guanine nucleotide exchange factor 9, SH3 domain	7 - 68	IPR035728

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Membrane	Translocated to the membrane upon stimulation
PANTHER Family	PTHR45872	RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2, ISOFORM D
PANTHER Subfamily	PTHR45872:SF1	RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 11
PANTHER Protein Class	guanyl-nucleotide exchange factor G-protein modulator protein-binding activity modulator
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.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

2 GO annotations of molecular function

Name	Definition
G protein-coupled receptor binding	Binding to a G protein-coupled receptor.
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.

8 GO annotations of biological process

Name	Definition
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 cytoskeletal structures comprising actin filaments and their associated proteins.
establishment of cell polarity	The specification and formation of anisotropic intracellular organization or cell growth patterns.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
regulation of cell growth	Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
Rho protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state.
striated muscle contraction	A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q92974	ARHGEF2	Rho guanine nucleotide exchange factor 2	Homo sapiens (Human)	PR
Q9NZN5	ARHGEF12	Rho guanine nucleotide exchange factor 12	Homo sapiens (Human)	EV
Q60875	Arhgef2	Rho guanine nucleotide exchange factor 2	Mus musculus (Mouse)	PR
Q8R4H2	Arhgef12	Rho guanine nucleotide exchange factor 12	Mus musculus (Mouse)	SS
Q9ES67	Arhgef11	Rho guanine nucleotide exchange factor 11	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MSVRLPQSID	RLSSLSSLGD	SAPERKSPSH	HRQPSDASET	TGLVQRCVII	QKDQHGFGFT
70	80	90	100	110	120
VSGDRIVLVQ	SVRPGGAAMK	AGVKEGDRII	KVNGTMVTNS	SHLEVVKLIK	SGAYVALTLL
130	140	150	160	170	180
GSSPSSMGIS	GLQQDPSPAG	APRITSVIPS	PPPPPPLPPP	QRITGPKPLQ	DPEVQKHATQ
190	200	210	220	230	240
ILRNMLRQEE	KELQDILPLY	GDTSQRPSEG	RLSLDSQEGD	SGLDSGTERF	PSLSESLMNR
250	260	270	280	290	300
NSVLSDPGLD	SPRTSPVIMA	RVAQHHRRQG	SDAAVPSTGD	QGVDQSPKPL	IIGPEEDYDP
310	320	330	340	350	360
GYFNNESDII	FQDLEKLKSR	PAHLGVFLRY	IFSQADPSPL	LFYLCAEVYQ	QASPKDSRSL
370	380	390	400	410	420
GKDIWNIFLE	KNAPLRVKIP	EMLQAEIDSR	LRNSEDARGV	LCEAQEAAMP	EIQEQIHDYR
430	440	450	460	470	480
TKRTLGLGSL	YGENDLLDLD	GDPLRERQVA	EKQLAALGDI	LSKYEEDRSA	PMDFALNTYM
490	500	510	520	530	540
SHAGIRLREA	RPSNTAEKAQ	SAPDKDKWLP	FFPKTKKSSN	SKKEKDALED	KKRNPILKYI
550	560	570	580	590	600
GKPKSSSQST	FHIPLSPVEV	KPGNVRNIIQ	HFENNQQYDA	PEPGTQRLST	GSFPEDLLES
610	620	630	640	650	660
DSSRSEIRLG	RSESLKGREE	MKRSRKAENV	PRSRSDVDMD	AAAEATRLHQ	SASSSTSSLS
670	680	690	700	710	720
TRSLENPTPP	FTPKMGRRSI	ESPSLGFCTD	TLLPHLLEDD	LGQLSDLEPE	PDAQNWQHTV
730	740	750	760	770	780
GKDVVAGLTQ	REIDRQEVIN	ELFVTEASHL	RTLRVLDLIF	YQRMKKENLM	PREELARLFP
790	800	810	820	830	840
NLPELIEIHN	SWCEAMKKLR	EEGPIIKEIS	DLMLARFDGP	AREELQQVAA	QFCSYQSIAL
850	860	870	880	890	900
ELIKTKQRKE	SRFQLFMQEA	ESHPQCRRLQ	LRDLIISEMQ	RLTKYPLLLE	SIIKHTEGGT
910	920	930	940	950	960
SEHEKLCRAR	DQCREILKYV	NEAVKQTENR	HRLEGYQKRL	DATALERASN	PLAAEFKSLD
970	980	990	1000	1010	1020
LTTRKMIHEG	PLTWRISKDK	TLDLHVLLLE	DLLVLLQKQD	EKLLLKCHSK	TAVGSSDSKQ
1030	1040	1050	1060	1070	1080
TFSPVLKLNA	VLIRSVATDK	RAFFIICTSK	LGPPQIYELV	ALTSSDKNTW	MELLEEAVRN
1090	1100	1110	1120	1130	1140
ATRHPGAAPM	PVHPPPPGPR	EPAQQGPTPS	RVELDDSDVF	HGEPEPEELP	GGTGSQQRVQ
1150	1160	1170	1180	1190	1200
GKHQVLLEDP	EQEGSAEEEE	LGVLPCPSTS	LDGENRGIRT	RNPIHLAFPG	PLFMEGLADS
1210	1220	1230	1240	1250	1260
ALEDVENLRH	LILWSLLPGH	TMETQAAQEP	EDDLTPTPSV	ISVTSHPWDP	GSPGQAPPGG
1270	1280	1290	1300	1310	1320
EGDNTQLAGL	EGERPEQEDM	GLCSLEHLPP	RTRNSGIWES	PELDRNLAED	ASSTEAAGGY
1330	1340	1350	1360	1370	1380
KVVRKAEVAG	SKVVPALPES	GQSEPGPPEV	EGGTKATGNC	FYVSMPSGPP	DSSTDHSEAP
1390	1400	1410	1420	1430	1440
MSPPQPDSLP	AGQTEPQPQL	QGGNDDPRRP	SRSPPSLALR	DVGMIFHTIE	QLTLKLNRLK
1450	1460	1470	1480	1490	1500
DMELAHRELL	KSLGGESSGG	TTPVGSFHTE	AARWTDGSLS	PPAKEPLASD	SRNSHELGPC
1510	1520
PEDGSDAPLE	DSTADAAASP	GP