AiPD: Autoinhibited Protein Database

O95398

Gene name	RAPGEF3 (CGEF1, EPAC, EPAC1)
Protein name	Rap guanine nucleotide exchange factor 3
Names	Exchange factor directly activated by cAMP 1, Exchange protein directly activated by cAMP 1, EPAC 1, Rap1 guanine-nucleotide-exchange factor directly activated by cAMP, cAMP-regulated guanine nucleotide exchange factor I, cAMP-GEFI
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10411
EC number
Protein Class	GUANINE NUCLEOTIDE EXCHANGE FACTOR (PTHR23113)

Descriptions

Epac1 (RAPGEF3) is a guanine nucleotide exchange factor (GEF) for the small G protein Rap and is directly activated by cyclic AMP (cAMP). Epac1 contains a regulatory region with a cAMP-binding domain (CBD), a Dishev-elled, Egl-10, Pleckstrin (DEP) domain, and a catalytic region for GEF activity. Upon cAMP binding, Epac1 undergoes a conformational change that allows the interaction of its GEF domain with Rap, resulting in Rap activation and subsequent downstream effects, including integrin-mediated cell adhesion and cell-cell junction formation. cAMP also induces the translocation of Epac1 toward the plasma membrane (PM), which is requisite for cAMP-induced Rap activation at the PM and enhances Rap-mediated cell adhesion. In the autoinhibited state, the catalytic site is sterically covered by the N-terminal regulatory region, which occludes the Rap binding site. The autoinhibition is released by a conformational change induced by the binding of cAMP.

Autoinhibitory domains (AIDs)

Target domain	658-923 (GEF catalytic domain)
Relief mechanism	Ligand binding
Assay	Structural analysis

AID

245-364 (CBD)

Target domain

658-923 (GEF catalytic domain)

Relief mechanism

Ligand binding (cAMP binding to CBD)

Assay

Structural analysis

Accessory elements

No accessory elements

References

Selvaratnam R et al. (2012) "The auto-inhibitory role of the EPAC hinge helix as mapped by NMR", PloS one, 7, e48707

Ponsioen B et al. (2009) "Direct spatial control of Epac1 by cyclic AMP", Molecular and cellular biology, 29, 2521-31

Gloerich M et al. (2010) "Spatial regulation of cyclic AMP-Epac1 signaling in cell adhesion by ERM proteins", Molecular and cellular biology, 30, 5421-31

Autoinhibited structure

Activated structure

2 structures for O95398

Entry ID	Method	Resolution	Chain	Position	Source
6H7E	X-ray	230 A	A/B	92-360	PDB
AF-O95398-F1	Predicted				AlphaFoldDB

899 variants for O95398

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs867481153 CA236477319	4	G>V		No	ClinGen Ensembl
rs930543766 CA236477314	5	W>*		No	ClinGen TOPMed gnomAD
rs546437260 CA6532306	5	W>C		No	ClinGen 1000Genomes ExAC gnomAD
CA6532305 rs747203004	6	P>A		No	ClinGen ExAC gnomAD
CA236477306 rs921869430	8	E>D		No	ClinGen TOPMed
CA384521678 rs1452846279	9	S>G		No	ClinGen TOPMed
CA384521674 rs1164501949	9	S>N		No	ClinGen gnomAD
rs1462241075 CA384521652	12	Q>*		No	ClinGen gnomAD
CA6532303 rs758629830	13	V>G		No	ClinGen ExAC gnomAD
rs778037600 CA6532304	13	V>M		No	ClinGen ExAC TOPMed gnomAD
CA384521638 rs753109148	14	G>A		No	ClinGen ExAC TOPMed gnomAD
CA6532302 rs753109148	14	G>V		No	ClinGen ExAC TOPMed gnomAD
VAR_047924 rs11168230 CA6532300	16	A>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA384521632 rs11168230	16	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384521631 rs11168230	16	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384521627 rs755530927	17	V>L		No	ClinGen ExAC TOPMed gnomAD
rs755530927 CA6532299	17	V>M		No	ClinGen ExAC TOPMed gnomAD
CA384521611 rs1263521293	19	D>A		No	ClinGen gnomAD
CA384521608 CA384521607 rs201883256	19	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs528361073 CA384521600 CA236477294	20	S>R		No	ClinGen gnomAD
CA6532298 rs754346610	22	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6532297 rs765951915	23	L>P		No	ClinGen ExAC gnomAD
rs373219854 CA236477293	24	G>A		No	ClinGen ESP TOPMed gnomAD
rs772984385 CA384521572	26	P>A		No	ClinGen ExAC TOPMed gnomAD
CA236477281 rs988971356	26	P>L		No	ClinGen TOPMed gnomAD
rs772984385 CA6532295	26	P>S		No	ClinGen ExAC TOPMed gnomAD
rs199576694 CA6532294	27	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376741096 CA236477267	27	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376741096 CA384521569	27	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376741096 CA6532292	27	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199576694 CA6532293	27	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs865912467 CA236477263	28	V>L		No	ClinGen gnomAD
CA384521567 rs865912467	28	V>M		No	ClinGen gnomAD
rs1159183675 CA384521563	29	G>R		No	ClinGen gnomAD
CA384521558 rs1188098362	29	G>V		No	ClinGen gnomAD
rs372882833 CA6532290	30	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1420280054 CA384521556	30	A>T		No	ClinGen gnomAD
rs1468785445 CA384521550	31	L>F		No	ClinGen gnomAD
CA384521543 rs1254611836	32	P>H		No	ClinGen gnomAD
CA384521535 rs1261465179	33	D>E		No	ClinGen TOPMed gnomAD
CA236477247 rs770647967	33	D>G		No	ClinGen Ensembl
rs200995306 CA6532288	33	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA384521533 rs746823313	34	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746823313 CA6532287	34	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1301223002 CA384521528	35	V>M		No	ClinGen gnomAD
rs777678433 CA236477244	36	P>L		No	ClinGen TOPMed gnomAD
rs1432530882 CA384521515	37	E>G		No	ClinGen gnomAD
CA384521510 rs1289040772	38	G>R		No	ClinGen gnomAD
CA384521508 rs1289040772	38	G>W		No	ClinGen gnomAD
CA6532284 rs574937207	39	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA384521485 rs1318068700	42	N>S		No	ClinGen TOPMed gnomAD
rs867860155 CA236477238	43	M>I		No	ClinGen Ensembl
rs1473811743 CA384521480	43	M>L		No	ClinGen TOPMed
rs1165812024 CA384521475	43	M>T		No	ClinGen TOPMed
CA6532282 rs779314712	44	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6532281 rs755334594	48	M>I		No	ClinGen ExAC gnomAD
rs1186451799 CA384521438	49	H>N		No	ClinGen gnomAD
rs1592586667 CA384521435	49	H>P		No	ClinGen Ensembl
rs555142030 CA6532279	50	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555142030 CA384521428	50	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384521429 rs555142030	50	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6532280 rs145368111	50	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396861951 CA384521422	51	P>L		No	ClinGen TOPMed
CA6532278 rs755629694	52	R>*		No	ClinGen ExAC TOPMed gnomAD
CA384521419 rs1565771782	52	R>Q		No	ClinGen Ensembl
rs749960218 CA6532277	55	S>F		No	ClinGen ExAC gnomAD
rs1326752370 CA384521380	58	L>M		No	ClinGen TOPMed
CA6532276 rs767040334	59	L>P		No	ClinGen ExAC gnomAD
rs866086581 CA236477218	61	E>*		No	ClinGen Ensembl
TCGA novel	61	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384521359 rs1327353172	62	H>N		No	ClinGen gnomAD
CA236477213 rs1033265398	63	Q>R		No	ClinGen Ensembl
CA384521342 rs1383540057	64	R>C		No	ClinGen TOPMed gnomAD
CA6532272 rs762724728	64	R>H		No	ClinGen ExAC TOPMed gnomAD
CA384521340 rs762724728	64	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6532271 rs544361057	65	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375586018 CA6532269	67	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA384521313 rs1166587370	68	I>M		No	ClinGen TOPMed gnomAD
CA384521306 rs1474978068	69	Q>H		No	ClinGen gnomAD
rs1376767279 CA384521312	69	Q>K		No	ClinGen gnomAD
rs1373398641 CA384521303	70	G>R		No	ClinGen gnomAD
CA236477199 rs372548735	70	G>V		No	ClinGen ESP TOPMed gnomAD
rs772093269 CA6532267	72	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1486658693 CA384521283	73	W>*		No	ClinGen gnomAD
TCGA novel	75	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA236474302 rs910547004	76	L>H		No	ClinGen TOPMed gnomAD
CA6532256 rs140644990	80	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6532255 rs140644990	80	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6532254 rs752517164	81	E>*		No	ClinGen ExAC gnomAD
CA6532253 rs765107108	82	S>F		No	ClinGen ExAC gnomAD
rs765107108 CA384521211	82	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	84	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6532251 rs776585358	87	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6532249 rs761856409	88	S>I		No	ClinGen ExAC TOPMed gnomAD
rs761856409 CA6532250	88	S>N		No	ClinGen ExAC TOPMed gnomAD
rs774574166 CA6532248	90	E>G		No	ClinGen ExAC gnomAD
rs886380570 CA384521162	90	E>K		No	ClinGen TOPMed gnomAD
rs886380570 CA236474241	90	E>Q		No	ClinGen TOPMed gnomAD
rs1009318522 CA236474150	94	T>A		No	ClinGen Ensembl
CA384521122 rs374863478	94	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6532239 rs374863478	94	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6532237 rs139532773	96	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6532238 rs145033855	96	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3416886 COSM3416884 COSM3416885	98	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM2068668 COSM2068670 COSM2068669	99	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA384521083 rs1463778681	101	G>E		No	ClinGen TOPMed gnomAD
CA6532234 rs536012749	101	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384521080 rs1240021253	102	R>G		No	ClinGen gnomAD
rs766239518 CA6532233	103	Q>*		No	ClinGen ExAC gnomAD
rs371294769 CA236474118	105	H>R		No	ClinGen ESP TOPMed
CA6532231 rs774328415	106	R>Q		No	ClinGen ExAC gnomAD
CA6532232 rs761884543	106	R>W		No	ClinGen ExAC gnomAD
CA384521027 rs1592568127	111	T>P		No	ClinGen Ensembl
CA384521017 rs1236252519	112	C>S		No	ClinGen gnomAD
TCGA novel	113	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1446586393 CA384520997	115	L>F		No	ClinGen TOPMed
CA6532227 rs376712555	117	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs376712555 CA6532226	117	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs746296925 CA6532225	117	R>Q		No	ClinGen ExAC gnomAD
CA6532221 rs777121861	119	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6532222 rs746475678	119	R>W		No	ClinGen ExAC TOPMed gnomAD
CA384520961 rs1592568008	121	Y>S		No	ClinGen Ensembl
CA384520954 rs1592567989	122	H>P		No	ClinGen Ensembl
CA384520943 rs1217313161	124	R>G		No	ClinGen TOPMed
CA6532218 rs778595182	127	R>Q		No	ClinGen ExAC gnomAD
rs754504086 CA236474077	127	R>W		No	ClinGen gnomAD
rs754654607 CA6532199	128	Q>R		No	ClinGen ExAC gnomAD
rs967746021 CA384520888	130	C>F		No	ClinGen gnomAD
rs967746021 CA236473970	130	C>Y		No	ClinGen gnomAD
rs779692997 CA6532197	131	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1157565224 CA384520880	132	G>S		No	ClinGen TOPMed
RCV000897665 rs147802510 CA6532195	133	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6532196 rs755978488	133	R>W		No	ClinGen ExAC TOPMed gnomAD
rs915903188 CA236473952	134	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	135	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6532194 rs767625628	137	D>Y		No	ClinGen ExAC gnomAD
CA384520846 rs1249757130	138	G>R		No	ClinGen TOPMed gnomAD
CA384520837 rs1250879516	139	I>T		No	ClinGen gnomAD
rs375533819 CA6532192	139	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA384520814 rs1213379088	143	G>*		No	ClinGen TOPMed gnomAD
TCGA novel	143	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	143	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs369316532 CA6532190	145	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6532189 rs199787084	147	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376748202 CA6532186	149	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs761155102 CA6532187	149	R>W		No	ClinGen ExAC TOPMed gnomAD
rs772572242 CA6532184	150	S>N		No	ClinGen ExAC gnomAD
rs538589003 CA6532181	152	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA6532183 rs144344396	152	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6532182 rs144344396	152	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148663057 CA6532180	155	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA236473917 rs770157525	156	C>Y		No	ClinGen Ensembl
CA6532179 rs779823332	158	V>G		No	ClinGen ExAC gnomAD
rs1159800950 CA384520704	161	D>E		No	ClinGen gnomAD
COSM6136918 COSM6136920 COSM6136919	161	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6532178 rs371733238	163	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6532177 rs745692594	164	A>T		No	ClinGen ExAC gnomAD
CA236473911 rs950528143	165	L>F		No	ClinGen TOPMed
CA6532176 rs781211783	167	H>Y		No	ClinGen ExAC gnomAD
rs1485613459 CA384520664	168	V>L		No	ClinGen gnomAD
CA6532159 rs769495171	169	K>N		No	ClinGen ExAC gnomAD
TCGA novel	169	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384520636 rs1461243168	170	H>R		No	ClinGen gnomAD
rs1170658262 CA384520633	171	D>N		No	ClinGen TOPMed
rs1173044196 CA384520622	172	W>*		No	ClinGen gnomAD
rs1474288093 CA384520618	172	W>C		No	ClinGen gnomAD
CA6532157 rs144079130	173	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	173	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384520603 rs1189340741	175	Q>*		No	ClinGen gnomAD
rs1444628483 CA384520595	176	D>N		No	ClinGen gnomAD
rs770886555 CA6532156	177	R>*		No	ClinGen ExAC gnomAD
CA384520585 rs746936761	177	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6532155 rs746936761	177	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs777820634 CA384520578	178	D>E		No	ClinGen ExAC gnomAD
CA236473806 rs369655935	179	A>S		No	ClinGen ESP TOPMed gnomAD
rs1332106646 CA384520573	179	A>V		No	ClinGen gnomAD
CA384520569 rs1292129395	180	Q>*		No	ClinGen TOPMed gnomAD
CA236473788 rs985892977	182	Y>C		No	ClinGen gnomAD
rs547271430 CA236473776	183	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6532153 rs547271430	183	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA236473785 rs866703192	183	R>W		No	ClinGen TOPMed gnomAD
rs1390636937 CA384520507	184	F>V		No	ClinGen gnomAD
rs1318392407 CA384520490	185	P>A		No	ClinGen TOPMed
CA384520467 rs1460057536	186	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6532150 CA6532151 rs149525116	186	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs149525116 CA384520472	186	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473791871 CA384520452	187	P>L		No	ClinGen gnomAD
CA236473775 rs908583124	187	P>S		No	ClinGen TOPMed gnomAD
CA6532148 rs767838278	188	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1240401480 CA384520425	189	P>A		No	ClinGen gnomAD
TCGA novel	189	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs368855605 CA6532145	190	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA384520399 rs1272080612	190	E>G		No	ClinGen gnomAD
CA6532144 rs368855605	190	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA384520384 rs1228416722	191	P>S		No	ClinGen gnomAD
CA384520389 rs1228416722	191	P>T		No	ClinGen gnomAD
rs544361332 CA236473748	192	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA384520354 rs2016123	193	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2016123 VAR_047925 CA6532142	193	R>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1422026611 CA384520347	193	R>K		No	ClinGen TOPMed
CA6532141 rs564801246	194	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA384520312 rs374892191	195	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407197612 CA384520306	196	E>V		No	ClinGen gnomAD
rs1173225687 CA384520295	197	M>I		No	ClinGen TOPMed
TCGA novel	198	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384520292 rs371881952	198	E>K		No	ClinGen ESP TOPMed gnomAD
CA236473740 rs371881952	198	E>Q		No	ClinGen ESP TOPMed gnomAD
CA384520285 rs1470796387	199	E>*		No	ClinGen gnomAD
CA384520282 rs1382634896	199	E>A		No	ClinGen gnomAD
CA384520277 rs1192162477	200	E>K		No	ClinGen gnomAD
rs1252021429 CA384520257	202	A>V		No	ClinGen gnomAD
rs1452881835 CA384520252	203	E>G		No	ClinGen gnomAD
COSM5841031 COSM5841029 COSM5841030	203	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6532138 rs770831517	205	V>E		No	ClinGen ExAC gnomAD
CA384520242 rs1338825622	205	V>M		No	ClinGen Ensembl
rs772956322 CA6532136	206	A>D		No	ClinGen ExAC TOPMed gnomAD
rs772956322 CA6532137	206	A>G		No	ClinGen ExAC TOPMed gnomAD
rs772956322 CA384520234	206	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6532135 rs772077715	210	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1304513492 CA384520206	211	R>L		No	ClinGen TOPMed gnomAD
CA384520208 rs1304513492	211	R>Q		No	ClinGen TOPMed gnomAD
CA6532133 rs780159448	211	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6532131 rs746087369	212	G>A		No	ClinGen ExAC TOPMed gnomAD
rs746087369 CA236473725	212	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1324829161 CA384520205	212	G>R		No	ClinGen gnomAD
rs1565763631 CA384520201	213	P>T		No	ClinGen Ensembl
CA384520188 rs757561510	214	D>E		No	ClinGen ExAC TOPMed gnomAD
COSM5460038 COSM5460037 COSM5460036 CA236473712 rs374949026	215	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ESP NCI-TCGA
RCV000886854 CA6532124 rs138831127	218	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA236473685 rs778789161	218	T>I		No	ClinGen gnomAD
rs764796690 CA6532123	220	A>T		No	ClinGen ExAC gnomAD
CA6532121 rs754730560	222	R>*		No	ClinGen ExAC TOPMed gnomAD
rs754730560 CA6532122	222	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6532120 rs766130559	222	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6532119 rs764625944	224	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1232773081 CA384520122	225	P>S		No	ClinGen gnomAD
CA236473153 rs1021668011	226	G>A		No	ClinGen Ensembl
rs1322360947 CA384520111	227	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs145043427 CA6532090	228	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM4948457 rs779519570 COSM4948456 COSM1361817 CA6532089	228	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs755563251 CA6532088	229	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6532086 rs779677866	230	D>N		No	ClinGen ExAC gnomAD
rs755645425 CA6532085	231	E>Q		No	ClinGen ExAC gnomAD
CA384520071 rs1239447113	233	L>P		No	ClinGen TOPMed
CA384520065 rs1457784427	234	D>G		No	ClinGen TOPMed
rs1177505509 CA384520048	237	F>L		No	ClinGen TOPMed
rs61733251 CA236473100	238	E>*		No	ClinGen Ensembl
rs1349932505 CA384520027	239	E>D		No	ClinGen gnomAD
CA6532084 rs750078963	240	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6532083 rs767091419 COSM3739683 COSM3739681	247	A>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC
CA384519973 rs1592563936	248	H>P		No	ClinGen Ensembl
rs878890466 CA236473090	249	L>P		No	ClinGen gnomAD
CA236473088 rs890174470	250	S>P		No	ClinGen Ensembl
TCGA novel	250	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6532082 rs761602671	251	N>D		No	ClinGen ExAC gnomAD
rs1441261063 CA384519954	251	N>I		No	ClinGen gnomAD
CA384519946 rs1298335722	252	S>L		No	ClinGen gnomAD
rs1565762269 CA384519931	253	V>E		No	ClinGen Ensembl
CA6532061 rs763850348	255	R>*		No	ClinGen ExAC gnomAD
rs1015916972 CA236472834	255	R>Q		No	ClinGen TOPMed gnomAD
CA6532060 rs758260500	257	L>I		No	ClinGen ExAC gnomAD
CA6532059 rs369901031	258	A>T		No	ClinGen ESP ExAC gnomAD
COSM939695 COSM4864221 COSM1586484 CA6532058 rs765086897	258	A>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6532056 rs773185261	259	A>T		No	ClinGen ExAC gnomAD
CA6532054 rs200912184	260	V>G		No	ClinGen ExAC gnomAD
CA6532055 COSM1736845 COSM1736847 rs767683493	260	V>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA384519887 rs1373481166	261	L>P		No	ClinGen gnomAD
CA384519888 rs138736592	261	L>V		No	ClinGen ExAC gnomAD
rs148138090 CA236472778	262	L>H		No	ClinGen ESP TOPMed
rs776073946 CA6532050	264	E>*		No	ClinGen ExAC
CA384519854 rs1171796650	266	H>R		No	ClinGen gnomAD
rs1565762119 CA384519856	266	H>Y		No	ClinGen Ensembl
rs1168566932 CA384519820	271	T>N		No	ClinGen gnomAD
CA6532048 rs543303042	271	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384519817 rs1263978891	272	V>M		No	ClinGen TOPMed gnomAD
CA384519727 rs1385771965	277	G>W		No	ClinGen TOPMed gnomAD
CA6532024 rs758066482	278	D>E		No	ClinGen ExAC gnomAD
CA384519714 COSM3461183 COSM3461185 COSM3461184 rs1388099441	278	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
CA6532023 rs747844746	280	G>C		No	ClinGen ExAC gnomAD
CA236472581 rs912774535	280	G>D		No	ClinGen Ensembl
rs747844746 CA384519668	280	G>R		No	ClinGen ExAC gnomAD
CA6532022 rs778540607	281	T>A		No	ClinGen ExAC gnomAD
CA6532021 rs754866777	282	S>L		No	ClinGen ExAC TOPMed gnomAD
COSM6072597 COSM6072596 COSM6072595	283	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA384519603 rs1164398108	284	Y>H		No	ClinGen gnomAD
TCGA novel	285	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780054118 CA6532019	287	W>*		No	ClinGen ExAC
rs757340843 CA6532018	287	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1592562359 CA384519500	289	G>*		No	ClinGen Ensembl
CA384519496 rs1362508599	289	G>A		No	ClinGen gnomAD
rs999546162 CA236472535	292	N>K		No	ClinGen TOPMed gnomAD
rs371663751 CA6532017	293	V>L		No	ClinGen ESP ExAC gnomAD
rs371663751 CA6532016	293	V>M		No	ClinGen ESP ExAC gnomAD
rs763247391 CA6532015	294	V>M		No	ClinGen ExAC TOPMed gnomAD
CA384519378 rs1426939337	297	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
RCV000948396 CA6531970 rs145878042	300	L>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6531968 rs781339806	301	V>G		No	ClinGen ExAC gnomAD
rs1160303125 CA384519181	301	V>M		No	ClinGen TOPMed
TCGA novel	302	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs566550955 CA6531965	305	H>L		No	ClinGen ExAC TOPMed gnomAD
rs566550955 CA6531964	305	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1441602024 CA384519128	306	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA384519082 rs1429320962	308	D>G		No	ClinGen TOPMed
CA6531961 rs766723911	314	A>D		No	ClinGen ExAC gnomAD
rs766723911 CA6531962	314	A>G		No	ClinGen ExAC gnomAD
rs1371873130 CA384518985	314	A>T		No	ClinGen TOPMed
rs750871908 CA6531959	317	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1277653854 CA384518889	319	A>V		No	ClinGen TOPMed gnomAD
CA6531958 rs562939516	320	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1219263374 CA384518883	320	P>S		No	ClinGen gnomAD
rs377235272 CA6531956	321	R>Q		No	ClinGen ESP ExAC gnomAD
CA6531957 rs761190001	321	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs550088855 CA6531955	324	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6531952 rs769702763	325	I>N		No	ClinGen ExAC gnomAD
CA6531953 rs775352486	325	I>V		No	ClinGen ExAC gnomAD
COSM1676905 COSM1676903 CA6531951 rs766946867	328	R>*	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1328917954 CA384518762	328	R>Q		No	ClinGen gnomAD
rs201965876 CA6531950	330	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1467600538 CA384518732	330	D>V		No	ClinGen TOPMed
CA6531949 rs756792898	331	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1239555937 CA384518713	333	H>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6531948 rs746964989	334	F>I		No	ClinGen ExAC gnomAD
rs950476445 CA384518700	334	F>L		No	ClinGen Ensembl
CA384518695 rs1270309308	335	L>R		No	ClinGen Ensembl
CA6531946 rs147783202	336	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384518694 rs147783202	336	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6531945 rs367665004	336	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531947 rs147783202	336	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780266532 CA6531944	337	V>A		No	ClinGen ExAC gnomAD
rs780266532 CA384518688	337	V>E		No	ClinGen ExAC gnomAD
COSM3398742 COSM3398741 COSM3398743	339	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1320049816 CA384518642	343	N>S		No	ClinGen gnomAD
COSM3461181 COSM3461182 rs767963161 COSM3461180 CA6531941	344	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
CA6531939 rs757761329	344	R>H		No	ClinGen ExAC gnomAD
rs767963161 CA6531940	344	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1286324691 CA384518623	346	I>T		No	ClinGen gnomAD
CA384518616 rs1395889149	347	K>R		No	ClinGen TOPMed
CA6531915 rs757861762	350	E>K		No	ClinGen ExAC gnomAD
TCGA novel	351	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs532913653 CA384518052	352	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764885644 CA6531913	353	T>I		No	ClinGen ExAC TOPMed gnomAD
CA384518036 rs564238938	355	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM939694 COSM3728257 CA6531911 rs564238938 COSM1586485	355	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766892669 CA6531912	355	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1592559652 CA384518025	357	E>G		No	ClinGen Ensembl
CA6531908 rs760399497	360	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1194341658 CA384517937	362	V>L		No	ClinGen TOPMed
CA6531907 rs527530696	363	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384517923 rs1555190278	363	V>M		No	ClinGen Ensembl
rs775873450 CA384517850	368	R>I		No	ClinGen TOPMed
CA236471891 rs775873450	368	R>K		No	ClinGen TOPMed
rs775873450 CA384517852	368	R>T		No	ClinGen TOPMed
COSM6136921 COSM6136923 COSM6136922	371	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1431539290 CA384517803	371	Q>R		No	ClinGen TOPMed gnomAD
rs370751497 CA384517780	373	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531904 rs370751497	373	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM4784904 COSM4784905 COSM1361816	374	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs12422983 VAR_047926 CA6531903	374	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1286924408 CA384517738	376	S>C		No	ClinGen TOPMed
rs746087227 CA6531902	377	R>*		No	ClinGen ExAC TOPMed gnomAD
rs868510642 CA236471874	377	R>Q		No	ClinGen gnomAD
CA6531901 rs529387182	378	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA384517723 rs1253926482	378	P>S		No	ClinGen gnomAD
rs747342924 CA6531899	379	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747342924 CA384517703	379	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs778306368 CA6531898	380	T>A		No	ClinGen ExAC gnomAD
CA384517689 rs1272701073	380	T>I		No	ClinGen TOPMed
rs1339785651 CA384517681	381	P>S		No	ClinGen gnomAD
CA6531897 rs182215210	382	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182215210 CA384517671	382	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6531896 rs753292366	383	R>G		No	ClinGen ExAC TOPMed gnomAD
rs754590304 CA6531894	385	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778558248 CA6531895	385	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201953513 CA6531875	386	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1401100622 CA384517551	386	Y>C		No	ClinGen gnomAD
COSM3461178 COSM3461177 COSM3461179	391	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA384517507 rs1188705677	393	P>A		No	ClinGen gnomAD
rs1235604091 CA384517505	393	P>L		No	ClinGen TOPMed
CA6531873 rs78160254	395	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384517472 rs1186584937	398	E>G		No	ClinGen TOPMed
rs1196976647 CA384517439	403	A>S		No	ClinGen gnomAD
CA384517436 rs1447263872	403	A>V		No	ClinGen TOPMed
CA6531870 rs751442901	405	G>R		No	ClinGen ExAC gnomAD
TCGA novel	406	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384517402 rs1435656137	408	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs370389518 CA6531869	409	S>G		No	ClinGen ESP ExAC gnomAD
rs199517036 CA6531868	409	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA384517394 rs1377836650	410	A>T		No	ClinGen gnomAD
CA236471681 rs915661494	410	A>V		No	ClinGen Ensembl
COSM3812087 COSM3812086 COSM3812088	411	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA384517377 rs1390682535	412	D>E		No	ClinGen gnomAD
rs199960016 CA6531866	412	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA236471680 rs982187653	414	T>K		No	ClinGen TOPMed
CA384517320 rs1225378182	416	T>I		No	ClinGen gnomAD
CA384517306 rs576540094	417	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150971079 CA6531842	417	F>V		No	ClinGen ESP ExAC gnomAD
rs776130389 CA6531840	418	L>F		No	ClinGen ExAC gnomAD
rs1401046973 CA384517288	419	S>G		No	ClinGen gnomAD
rs369117866 CA236471505	419	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA236471501 rs761149676	420	D>N		No	ClinGen gnomAD
TCGA novel	421	F>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1586486 COSM4864820 COSM939693	424	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA384517191 rs1176545355	426	R>K		No	ClinGen gnomAD
CA384517182 rs1481108118	427	V>F		No	ClinGen gnomAD
CA384517151 rs1475651945	429	M>I		No	ClinGen TOPMed gnomAD
CA236471496 COSM1676902 COSM1676900 rs975240111	429	M>K	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs770598764 CA6531836	429	M>V		No	ClinGen ExAC gnomAD
CA384517124 rs1185069962	431	S>N		No	ClinGen TOPMed gnomAD
rs148472439 CA236471480	432	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6531833 rs148472439	432	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1020664475 CA236471466	433	Q>H		No	ClinGen TOPMed gnomAD
rs1227273282 CA384517088	434	L>I		No	ClinGen TOPMed
CA384517071 rs1258048686	435	C>Y		No	ClinGen gnomAD
CA6531830 rs141880710	436	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1282801453 CA384517051	436	A>V		No	ClinGen gnomAD
rs1381622889 CA384517047	437	A>T		No	ClinGen gnomAD
CA384517036 rs1336945463	438	L>V		No	ClinGen gnomAD
rs1169261566 CA384517013	440	H>Q		No	ClinGen gnomAD
rs1397484395 CA384517017	440	H>R		No	ClinGen gnomAD
CA6531811 rs370152009	443	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294419164 CA384516983	443	H>Y		No	ClinGen gnomAD
CA236471287 rs374818101	446	P>A		No	ClinGen ESP TOPMed gnomAD
CA384516937 rs374818101	446	P>S		No	ClinGen ESP TOPMed gnomAD
CA384516947 rs374818101	446	P>T		No	ClinGen ESP TOPMed gnomAD
rs201879522 CA6531810	447	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	448	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA236471278 rs971137925	448	G>S		No	ClinGen TOPMed
rs527644735 CA6531808	449	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs758639779 CA6531807	450	S>N		No	ClinGen ExAC gnomAD
CA6531805 rs140023214	450	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531804 rs562053494	451	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs777176321 CA6531803	452	Q>*		No	ClinGen ExAC gnomAD
rs1592556699 CA384516818	453	E>A		No	ClinGen Ensembl
CA6531802 rs765812810	453	E>D		No	ClinGen ExAC gnomAD
CA6531801 rs760195684	454	R>C		No	ClinGen ExAC TOPMed gnomAD
rs772695180 CA6531800	454	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA384516774 rs1592556649	456	T>P		No	ClinGen Ensembl
rs146484121 CA6531799	457	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774174711 CA6531797	458	V>I		No	ClinGen ExAC gnomAD
rs142826491 CA236471254	459	C>*		No	ClinGen ESP gnomAD
CA384516678 rs1209598663	460	N>K		No	ClinGen gnomAD
CA384516673 rs1488156555	461	K>E		No	ClinGen gnomAD
TCGA novel	461	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384516664 rs1357829046	461	K>R		No	ClinGen gnomAD
rs1216065190 CA384516653	462	R>G		No	ClinGen gnomAD
CA6531795 rs749232919	462	R>K		No	ClinGen ExAC gnomAD
CA6531796 rs749232919	462	R>T		No	ClinGen ExAC gnomAD
rs1222318208 CA384516622	463	Q>*		No	ClinGen gnomAD
CA384516595 rs1346108625	464	Q>R		No	ClinGen gnomAD
CA6531794 rs780144118	465	I>F		No	ClinGen ExAC gnomAD
rs138220855 CA6531791	467	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6531792 COSM3954791 rs747106424 COSM3954793	467	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6531790 rs758612645	468	L>Q		No	ClinGen ExAC gnomAD
CA6531789 rs752908345	469	V>G		No	ClinGen ExAC gnomAD
CA384516497 rs1247362018	469	V>L		No	ClinGen gnomAD
rs997986601 CA384516458	470	S>R		No	ClinGen gnomAD
rs1470326106 CA384516437	471	Q>H		No	ClinGen gnomAD
rs900827633 CA236471246	471	Q>P		No	ClinGen Ensembl
rs765617530 CA6531788	472	W>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	472	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA236471240 rs903532820	473	V>G		No	ClinGen Ensembl
rs1192107859 CA384516401	474	A>D		No	ClinGen gnomAD
rs1592556359 CA384516387	475	L>P		No	ClinGen Ensembl
CA384516393 rs1428360371	475	L>V		No	ClinGen gnomAD
rs374937623 CA6531785	476	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs374937623 CA6531786	476	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA236471227 rs866765126	477	G>C		No	ClinGen Ensembl
rs1253846700 CA384516311	479	M>I		No	ClinGen gnomAD
rs1486658053 CA384516318	479	M>T		No	ClinGen gnomAD
rs1385439198 CA384516327	479	M>V		No	ClinGen TOPMed
CA384516300 rs1565758777	480	L>F		No	ClinGen Ensembl
rs760140612 CA6531783	480	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6531782 rs371742959	481	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1323209897 CA384516223	483	D>G		No	ClinGen gnomAD
COSM4042110 COSM4042112 COSM4042111	484	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766986916 CA6531781	484	P>R		No	ClinGen ExAC gnomAD
rs761514673 CA6531780	486	A>D		No	ClinGen ExAC TOPMed gnomAD
CA6531778 rs768499017	487	T>I		No	ClinGen ExAC gnomAD
rs775518205 CA6531776	490	L>F		No	ClinGen ExAC gnomAD
COSM4404849 COSM4404850 COSM4404848	494	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA236471125 rs958000014	495	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA384515890 rs1411048812	497	V>A		No	ClinGen Ensembl
rs1444879518 CA384515870	498	G>A		No	ClinGen TOPMed gnomAD
rs376060459 CA236471099	499	R>G		No	ClinGen Ensembl
CA384515854 rs1179099264	499	R>K		No	ClinGen gnomAD
CA6531758 rs769758965	499	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1229957737 CA384515846	500	D>N		No	ClinGen TOPMed
rs1592555704 CA384515821	501	T>P		No	ClinGen Ensembl
CA6531757 rs770919870	502	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6531756 rs200338454	502	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6531755 rs200338454	502	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA384515784 rs1282361840	503	L>R		No	ClinGen TOPMed
rs1565758337 CA384515710	507	L>Q		No	ClinGen Ensembl
CA384515601 rs1290773478	512	P>T		No	ClinGen gnomAD
rs1246372127 CA384515579	513	E>K		No	ClinGen gnomAD
rs1180737788 CA384515552	514	R>K		No	ClinGen TOPMed
CA6531753 rs377464139	515	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM431155 COSM4813871 COSM4813870 CA236471073 rs966849072	516	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
CA384515527 rs966849072	516	R>G		No	ClinGen gnomAD
rs746514278 CA6531752	516	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746514278 CA6531751	516	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6531750 rs61709815 RCV000968253 VAR_061784	517	C>Y		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	519	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	520	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384514511 rs1447822335	524	C>Y		No	ClinGen gnomAD
rs75903148 CA236468190	526	N>D		No	ClinGen gnomAD
rs1264377183 CA384514452	528	S>F		No	ClinGen gnomAD
rs757672971 CA6531727	530	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA384512787 rs1592547431	533	A>T		No	ClinGen Ensembl
CA6531671 rs573050276	534	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs146898882 CA6531672	534	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs142663335 CA6531670	536	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1175725493 CA384512718	537	P>L		No	ClinGen gnomAD
CA384512725 rs1404005009	537	P>S		No	ClinGen gnomAD
rs1045858600 CA236466454	539	W>*		No	ClinGen TOPMed
rs1045858600 CA384512681	539	W>C		No	ClinGen TOPMed
rs772626576 CA6531668	539	W>G		No	ClinGen ExAC gnomAD
CA384512669 rs1168823069	540	L>F		No	ClinGen gnomAD
CA384512666 rs1592547312	540	L>P		No	ClinGen Ensembl
CA6531666 rs774927863	542	N>D		No	ClinGen ExAC gnomAD
rs767993156 CA6531665	542	N>S		No	ClinGen ExAC TOPMed gnomAD
rs767993156 CA384512634	542	N>T		No	ClinGen ExAC TOPMed gnomAD
CA6531664 rs748854576	543	Q>K		No	ClinGen ExAC gnomAD
CA236466420 rs138607493	545	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs181245276 CA6531662	546	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs745569032 CA6531661	549	G>S		No	ClinGen ExAC gnomAD
CA6531660 rs780951186	553	A>D		No	ClinGen ExAC gnomAD
CA384512485 rs1306693926	553	A>T		No	ClinGen gnomAD
CA384512476 rs1230901796	554	I>T		No	ClinGen gnomAD
CA384512469 rs1592547184	555	Q>P		No	ClinGen Ensembl
CA236466383 rs930133188	556	V>G		No	ClinGen TOPMed
rs1336197474 CA384512456	557	G>E		No	ClinGen gnomAD
rs1418462186 CA384512415	561	P>L		No	ClinGen gnomAD
rs748096159 CA6531637	562	Y>C		No	ClinGen ExAC gnomAD
CA6531636 rs368286046 COSM1645704	564	I>V	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs756270848 CA6531635	565	C>F		No	ClinGen ExAC gnomAD
CA6531633 rs200527655	566	R>G		No	ClinGen ExAC TOPMed gnomAD
rs202109036 CA6531631	566	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA384512386 rs202109036	566	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531630 rs202109036	566	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531632 rs200527655	566	R>W		No	ClinGen ExAC TOPMed gnomAD
rs763502274 CA6531629	567	P>T		No	ClinGen ExAC gnomAD
rs1445829075 CA384512370	569	H>R		No	ClinGen TOPMed
CA6531628 rs149051230	569	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1290735431 CA384512365	570	S>P		No	ClinGen gnomAD
CA236466125 rs897301048	571	V>A		No	ClinGen TOPMed gnomAD
rs1345271343 CA384512348	572	L>F		No	ClinGen gnomAD
CA6531626 rs535109543	573	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA384512346 rs764658160	573	T>P		No	ClinGen ExAC gnomAD
rs764658160 CA6531627	573	T>S		No	ClinGen ExAC gnomAD
CA236466092 rs1029917479	574	L>M		No	ClinGen gnomAD
rs1384984216 CA384512341	574	L>P		No	ClinGen TOPMed
rs776214675 CA6531625	575	Q>K		No	ClinGen ExAC gnomAD
rs144954699 CA6531624	580	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs899984014 CA384512298	582	V>L		No	ClinGen TOPMed gnomAD
rs899984014 CA236466082	582	V>M		No	ClinGen TOPMed gnomAD
COSM939692 COSM1586488	583	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6531622 rs773048989	583	R>K		No	ClinGen ExAC gnomAD
COSM3416883 COSM3416882	584	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA236466075 rs1038566929	584	E>D		No	ClinGen Ensembl
CA384512287 rs748055367 COSM3461170 COSM3461169	584	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs748055367 CA6531620	584	E>Q		No	ClinGen ExAC gnomAD
CA384512280 rs1458468289	585	V>M		No	ClinGen TOPMed
COSM3871672 COSM3871673	587	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1453573601 CA384512260	588	A>T		No	ClinGen gnomAD
rs569631267 CA6531619	588	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781462735 CA6531616	591	Q>*		No	ClinGen ExAC gnomAD
rs549848412 CA6531615	592	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764514380 CA236466039	594	G>C		No	ClinGen ExAC TOPMed gnomAD
COSM939691 COSM1586489	594	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs764514380 CA6531613	594	G>S		No	ClinGen ExAC TOPMed gnomAD
rs758693193 CA6531612	595	W>R		No	ClinGen ExAC gnomAD
rs767307384 CA236466035	598	G>A		No	ClinGen gnomAD
CA384512111 rs1592545832	600	V>G		No	ClinGen Ensembl
rs201865687 CA6531611	600	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1464896803 CA384512099	601	L>P		No	ClinGen TOPMed
CA6531609 rs759004260	602	V>A		No	ClinGen ExAC gnomAD
rs761724079 CA6531608	603	K>E		No	ClinGen ExAC TOPMed gnomAD
CA384512044 rs1408039589	605	N>D		No	ClinGen TOPMed
rs1428469397 CA384512038	605	N>S		No	ClinGen gnomAD
CA384512010 rs1172988528	607	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6531607 rs765865618	607	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1565752224 CA384511241	609	D>E		No	ClinGen Ensembl
rs1333456471 CA384511987	609	D>N		No	ClinGen TOPMed
rs1206261383 CA384511229	611	I>T		No	ClinGen gnomAD
CA6531589 rs760119802	612	G>D		No	ClinGen ExAC gnomAD
rs750044338 CA6531588	614	Q>K		No	ClinGen ExAC gnomAD
CA6531587 rs767107554	614	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs762976932 CA6531583	618	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769387388 CA6531582	618	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762976932 CA384511190	618	R>S		No	ClinGen ExAC TOPMed gnomAD
rs892174251 CA236465053	619	G>S		No	ClinGen TOPMed
CA6531581 rs770984223	621	A>S		No	ClinGen ExAC gnomAD
CA6531580 rs371160640	622	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531579 rs778007965	626	L>F		No	ClinGen ExAC gnomAD
CA384511147 rs778007965	626	L>V		No	ClinGen ExAC gnomAD
CA6531578 rs772248238	627	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	628	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs146740422 CA6531576	629	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531574 rs779247862	629	R>H		No	ClinGen ExAC TOPMed
CA384511128 rs146740422	629	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531573 rs771968508	630	L>A		No	ClinGen ExAC gnomAD
TCGA novel	630	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs755344226 CA6531572	630	L>H		No	ClinGen ExAC gnomAD
TCGA novel	634	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384511086 rs1320681866	635	P>L		No	ClinGen gnomAD
CA384511081 rs1289998337	636	Q>R		No	ClinGen gnomAD
rs1229498674 CA384511065	638	V>A		No	ClinGen TOPMed gnomAD
rs1229498674 CA384511064	638	V>G		No	ClinGen TOPMed gnomAD
CA384511063 rs1287634260	639	H>N		No	ClinGen gnomAD
CA6531568 rs199902739	639	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM4935954 COSM4935955	641	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs143474061 CA236464633	642	I>V		No	ClinGen ESP TOPMed gnomAD
rs756830911 CA6531543	644	H>Q		No	ClinGen ExAC gnomAD
CA384510780 rs1232340519	645	P>A		No	ClinGen gnomAD
CA384510779 rs1232340519	645	P>S		No	ClinGen gnomAD
rs751199016 CA6531542	646	D>E		No	ClinGen ExAC gnomAD
CA6531541 rs367991801	651	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1213041980 CA384510667	652	V>L		No	ClinGen gnomAD
CA384510653 rs1592539850	653	G>S		No	ClinGen Ensembl
CA236464597 rs985377635	655	A>T		No	ClinGen Ensembl
CA384510600 rs1298466544	657	G>R		No	ClinGen gnomAD
rs758222582 CA6531540	659	D>H		No	ClinGen ExAC gnomAD
rs80097705 CA6531538	660	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000967264 CA6531537 rs80097705	660	L>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776637340 CA6531535	661	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6531536 rs759375739	661	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6531534 rs373844546	662	S>G		No	ClinGen ESP ExAC gnomAD
CA384510477 rs1592539738	665	D>A		No	ClinGen Ensembl
CA236464565 rs1026791963	666	L>R		No	ClinGen Ensembl
rs1188693689 CA384510460	668	G>D		No	ClinGen gnomAD
CA6531533 rs761906844	669	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs774520669 CA6531532	671	T>M		No	ClinGen ExAC gnomAD
COSM6072598 COSM6072599	671	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1483503703 CA384510435	672	D>V		No	ClinGen gnomAD
rs749573837 CA384510432	673	H>N		No	ClinGen ExAC gnomAD
CA384510427 rs148525602	673	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749573837 CA6531529	673	H>Y		No	ClinGen ExAC gnomAD
rs1275597002 CA384510414	675	W>*		No	ClinGen gnomAD
rs75289962 CA236464537	676	S>N		No	ClinGen Ensembl
rs770262528 CA6531527	677	L>F		No	ClinGen ExAC gnomAD
CA384510378 rs1592539577	680	S>C		No	ClinGen Ensembl
CA384510368 rs1592539568	681	I>T		No	ClinGen Ensembl
rs781767626 CA6531525	682	H>Y		No	ClinGen ExAC gnomAD
rs1397141496 CA384510353	683	Q>R		No	ClinGen gnomAD
CA384510329 rs1592539055	685	E>V		No	ClinGen Ensembl
CA6531491 rs369449081	686	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489502671 CA384510319	687	I>N		No	ClinGen gnomAD
CA6531488 rs369711442	689	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	689	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384510296 rs546717867	690	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546717867 CA6531486	690	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384510286 rs1480605355	692	G>D		No	ClinGen gnomAD
rs1329048253 CA384510266	695	H>R		No	ClinGen gnomAD
rs778330392 CA6531483	696	L>P		No	ClinGen ExAC TOPMed gnomAD
CA236464250 rs375616623 COSM1586490	697	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA6531481 rs144726123	697	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384510249 rs112035828	698	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112035828 CA6531480	698	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6531479 rs755910369	699	V>I		No	ClinGen ExAC TOPMed gnomAD
CA384510224 rs1592538875	700	T>P		No	ClinGen Ensembl
CA384510213 rs1592538863	701	T>P		No	ClinGen Ensembl
CA6531476 rs139231646	702	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531477 rs139231646	702	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs755237106 CA6531473	704	L>P		No	ClinGen ExAC gnomAD
COSM3871670 COSM3871671	705	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs372675211 CA6531472	706	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs367938428 CA6531471	706	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6531470 rs368706450	707	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs747930240 CA6531469	709	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778903072 CA6531468	709	R>H		No	ClinGen ExAC gnomAD
rs747930240 CA236464233	709	R>S		No	ClinGen ExAC TOPMed gnomAD
rs773902126 CA6531467	710	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773902126 CA384510097	710	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6531465 rs768121835	710	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6531466 rs773902126	710	R>S		No	ClinGen ExAC TOPMed gnomAD
CA236464189 rs147300856	712	N>H		No	ClinGen ESP TOPMed gnomAD
CA384510065 rs1233545370	712	N>S		No	ClinGen gnomAD
TCGA novel	715	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384510010 rs1433682416	716	Y>C		No	ClinGen gnomAD
rs1412617978 CA384509964	719	A>V		No	ClinGen gnomAD
rs144047493 CA6531461	721	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384509883 rs1188065302	725	C>Y		No	ClinGen gnomAD
CA6531458 rs746977160	726	P>L		No	ClinGen ExAC gnomAD
CA236464097 rs956562354	726	P>S		No	ClinGen TOPMed gnomAD
rs371356808 CA384509858	727	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371356808 CA6531455 COSM3765645	727	V>M	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1272024998 CA384509823	729	G>D		No	ClinGen gnomAD
TCGA novel	729	G>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA384509831 rs1362859313	729	G>S		No	ClinGen TOPMed
CA384509807 rs767831835	731	R>G		No	ClinGen ExAC gnomAD
TCGA novel	731	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs375977878 CA236464019	731	R>Q		No	ClinGen ESP TOPMed
rs767831835 CA6531451	731	R>W		No	ClinGen ExAC gnomAD
CA384509790 rs762380970	732	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6531449 rs762380970	732	A>T		No	ClinGen ExAC TOPMed gnomAD
CA384509788 rs1445766750	732	A>V		No	ClinGen gnomAD
rs930965429 CA236464013	733	Q>*		No	ClinGen Ensembl
rs930965429 CA384509781	733	Q>E		No	ClinGen Ensembl
CA6531448 rs774728172	734	L>R		No	ClinGen ExAC TOPMed gnomAD
rs763540141 CA6531447	735	L>F		No	ClinGen ExAC gnomAD
CA6531446 rs371759402	736	R>M		No	ClinGen ESP ExAC gnomAD
CA6531445 rs775080828	736	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6531443 rs368203022	742	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781294541 CA6531412	745	L>F		No	ClinGen ExAC gnomAD
COSM3871669 COSM3871668	746	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	747	E>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs751836755 CA6531410	748	Q>K		No	ClinGen ExAC gnomAD
COSM263259	749	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1169629277 CA384509582	750	N>D		No	ClinGen TOPMed
rs778155975 CA6531408	750	N>K		No	ClinGen ExAC gnomAD
CA384509565 rs1160435959	752	N>S		No	ClinGen gnomAD
rs764660320 CA6531405	753	S>F		No	ClinGen ExAC gnomAD
CA236463778 rs950870029	754	F>L		No	ClinGen TOPMed
rs1335383590 CA384509544	755	F>C		No	ClinGen gnomAD
CA6531403 rs1555188149	756	A>T		No	ClinGen Ensembl
CA384509535 rs758980561	757	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6531402 rs758980561	757	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1267408633 CA384509527	758	M>I		No	ClinGen gnomAD
rs765918128 CA384509529	758	M>R		No	ClinGen ExAC gnomAD
rs765918128 CA6531400	758	M>T		No	ClinGen ExAC gnomAD
CA6531401 rs753479265	758	M>V		No	ClinGen ExAC gnomAD
CA384509493 rs1209193279	763	N>T		No	ClinGen gnomAD
CA6531398 rs772059743	764	S>*		No	ClinGen ExAC TOPMed gnomAD
CA6531397 rs772059743	764	S>L		No	ClinGen ExAC TOPMed gnomAD
CA6531399 rs772059743	764	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1298845276 CA384509479	766	I>L		No	ClinGen gnomAD
CA6531396 rs550320611	768	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6531395 COSM939689 rs368244791 COSM1586491	768	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
CA384509461 rs368244791	768	R>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1272499979 CA384509447	771	H>N		No	ClinGen TOPMed
rs374319063 CA6531394	772	T>S		No	ClinGen ESP ExAC gnomAD
CA384509427 rs1162798841	774	E>Q		No	ClinGen TOPMed gnomAD
CA6531367 rs755428820	775	R>Q		No	ClinGen ExAC gnomAD
CA6531368 rs373278702	775	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs369346288 CA6531366	777	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	779	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384509384 rs779365075	779	K>R		No	ClinGen ExAC gnomAD
CA6531365 rs779365075	779	K>T		No	ClinGen ExAC gnomAD
CA384509380 rs1592536664	780	V>I		No	ClinGen Ensembl
rs201845012 CA6531364	781	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6531362 rs767312809	781	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201845012 CA6531363	781	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6531361 rs373150406	784	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370847369 CA6531358	785	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA384509350 rs370847369	785	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531360 rs200046122	785	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531359 rs370847369	785	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs760766068 CA6531355	786	A>T		No	ClinGen ExAC TOPMed gnomAD
rs773381104 CA6531354	786	A>V		No	ClinGen ExAC gnomAD
rs772250149 CA6531353	787	L>F		No	ClinGen ExAC gnomAD
rs769070035 CA6531350	788	E>D		No	ClinGen ExAC gnomAD
rs774576850 CA6531351	788	E>K		No	ClinGen ExAC TOPMed gnomAD
CA384509323 rs1592536515	790	L>R		No	ClinGen Ensembl
rs1463059222 CA384509319	791	L>P		No	ClinGen gnomAD
rs980965505 CA236462954	793	P>L		No	ClinGen Ensembl
COSM3461158 rs1279150966 COSM3461157 CA384509282	795	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
rs778728122 CA6531320	795	W>R		No	ClinGen ExAC TOPMed gnomAD
CA6531319 rs377225603	797	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs753781665 CA384509264	798	R>G		No	ClinGen ExAC TOPMed gnomAD
CA384509263 rs1294702879	798	R>Q		No	ClinGen TOPMed gnomAD
rs753781665 CA6531318	798	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1434320182 CA384509256	799	V>A		No	ClinGen gnomAD
rs1335279111 CA384509258	799	V>L		No	ClinGen TOPMed
rs1222965843 CA384509253	800	Y>H		No	ClinGen gnomAD
rs1320099881 CA384509245	801	R>*		No	ClinGen gnomAD
rs796826496 CA236462908	801	R>L		No	ClinGen TOPMed gnomAD
rs796826496 CA384509243	801	R>P		No	ClinGen TOPMed gnomAD
rs796826496 CA384509244	801	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA384509237 rs1174502161	803	A>T		No	ClinGen gnomAD
rs898811581 CA236462898	805	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA384509219 rs1227938967	806	K>E		No	ClinGen TOPMed
rs1272824709 CA384509203	808	S>Y		No	ClinGen TOPMed
rs372890819 CA6531316	809	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6531315 rs751695897	811	V>A		No	ClinGen ExAC gnomAD
COSM3461155 COSM3461156	813	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	814	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA384509151 rs1592533927	815	M>I		No	ClinGen Ensembl
CA384509161 rs1200754935	815	M>L		No	ClinGen TOPMed
rs763136670 COSM4042102 COSM4042103 CA6531313	816	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs763136670 CA384509148	816	P>T		No	ClinGen ExAC TOPMed gnomAD
rs201203454 CA236462824	817	L>P		No	ClinGen 1000Genomes
rs1258583441 CA384509129	817	L>V		No	ClinGen gnomAD
COSM6136930 COSM6136931	818	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA6531311 rs765761936	819	L>I		No	ClinGen ExAC gnomAD
rs1443124541 CA384507941	822	M>K		No	ClinGen gnomAD
rs761133136 CA6531290	823	T>I		No	ClinGen ExAC gnomAD
CA6531288 rs147988756	825	I>L		No	ClinGen ESP ExAC
rs747780939 CA6531287	826	H>Y		No	ClinGen ExAC gnomAD
CA384507869 rs1167623179	827	E>K		No	ClinGen gnomAD
COSM1705507 COSM136894	828	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA384507818 rs1252956209	830	H>L		No	ClinGen TOPMed
CA6531285 rs768400643	830	H>Y		No	ClinGen ExAC gnomAD
CA384507801 rs1482964729	831	T>I		No	ClinGen TOPMed
TCGA novel	831	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6531284 rs749055557	833	V>L		No	ClinGen ExAC TOPMed gnomAD
rs749055557 CA236462532	833	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6531283 rs779875448	834	E>D		No	ClinGen ExAC gnomAD
CA384507742 rs1258787036	836	L>V		No	ClinGen TOPMed
rs1234147177 CA384507724	837	I>T		No	ClinGen TOPMed gnomAD
CA384507731 rs1400840251	837	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	841	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6531282 rs747700402	842	M>T		No	ClinGen ExAC gnomAD
CA6531254 COSM939688 rs754179246 COSM1586492	843	R>I	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1290703588 CA384507488	843	R>S		No	ClinGen TOPMed
rs754179246 CA384507493	843	R>T		No	ClinGen ExAC TOPMed gnomAD
CA6531252 rs756457834	844	M>I		No	ClinGen ExAC gnomAD
rs759034284 CA6531253	844	M>L		No	ClinGen ExAC TOPMed gnomAD
rs759034284 CA384507479 COSM939687 COSM1651263	844	M>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1004952252 CA236462270	845	M>I		No	ClinGen gnomAD
rs1220586727 CA384507440	845	M>T		No	ClinGen TOPMed
CA236462264 rs866821955	846	A>S		No	ClinGen Ensembl
rs1426172833 CA384507398	847	R>T		No	ClinGen gnomAD
rs750903513 CA6531251	848	A>D		No	ClinGen ExAC TOPMed
CA6531248 rs201397656	849	A>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs201397656 CA6531249	849	A>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs745940362 CA236462218	849	A>V		No	ClinGen TOPMed gnomAD
CA6531246 rs762522438	850	R>Q		No	ClinGen ExAC gnomAD
CA6531247 rs143496473	850	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531245 rs775014528	851	M>V		No	ClinGen ExAC gnomAD
CA384507273 rs1592531397	853	H>P		No	ClinGen Ensembl
rs1306929225 CA384507245	854	H>P		No	ClinGen gnomAD
rs1306929225 CA384507244	854	H>R		No	ClinGen gnomAD
CA6531243 rs776528834	856	R>*		No	ClinGen ExAC TOPMed gnomAD
rs770750442 CA6531241	856	R>Q		No	ClinGen ExAC gnomAD
CA6531239 rs200517997	857	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6531209 rs758940907	861	V>A		No	ClinGen ExAC gnomAD
CA236462192 rs986429485	861	V>M		No	ClinGen TOPMed
TCGA novel	862	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1565746702 CA384506744	866	L>F		No	ClinGen Ensembl
CA6531207 rs556643345	866	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6531206 rs764858235	867	R>K		No	ClinGen ExAC TOPMed gnomAD
rs753532357 CA6531204	869	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6531203 rs766227935	869	R>Q		No	ClinGen ExAC gnomAD
rs1307559693 CA384506640	870	V>D		No	ClinGen gnomAD
CA384506622 rs1393079610	871	S>Y		No	ClinGen gnomAD
rs1200953197 CA384506567	874	H>N		No	ClinGen TOPMed
rs200257479 CA384506547 CA384506545	874	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1200953197 CA384506559	874	H>Y		No	ClinGen TOPMed
CA6531200 rs767541828	875	E>K		No	ClinGen ExAC gnomAD
CA6531199 rs761870576	876	D>N		No	ClinGen ExAC gnomAD
CA384506515 rs1209999506	877	S>G		No	ClinGen TOPMed
CA6531197 rs769925470	878	Q>R		No	ClinGen ExAC gnomAD
CA384506480 rs1453114410	879	V>M		No	ClinGen gnomAD
CA6531195 rs369531877	880	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA384506465 rs1252990039	880	A>P		No	ClinGen TOPMed gnomAD
CA384506463 rs1252990039	880	A>S		No	ClinGen TOPMed gnomAD
CA6531194 rs369531877	880	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1259866783 CA384506455	881	R>G		No	ClinGen gnomAD
rs778156210 CA6531192	882	I>V		No	ClinGen ExAC TOPMed gnomAD
rs758891875 CA6531191	884	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	885	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1319926942 CA384506341	885	C>Y		No	ClinGen TOPMed gnomAD
CA6531173 rs528517741	886	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769084682 CA6531171	887	E>G		No	ClinGen ExAC
rs1257039799 CA384506307	888	Q>*		No	ClinGen TOPMed gnomAD
CA384506288 rs1437127577	889	S>F		No	ClinGen gnomAD
rs143379828 CA236461762	891	S>I		No	ClinGen ESP TOPMed
CA6531170 rs767450779	892	T>I		No	ClinGen ExAC TOPMed gnomAD
CA384506250 rs559675833	893	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384506243 rs755827558	893	R>L		No	ClinGen ExAC gnomAD
CA6531168 rs755827558	893	R>Q		No	ClinGen ExAC gnomAD
CA6531169 rs559675833	893	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371724746 CA6531167	894	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA236461739 rs368269374	894	S>N		No	ClinGen ESP gnomAD
rs762005400 CA6531166	895	P>L		No	ClinGen ExAC TOPMed gnomAD
rs941901994 CA236461728	896	A>T		No	ClinGen TOPMed
rs1211417844 CA384506207	896	A>V		No	ClinGen gnomAD
CA6531165 rs757102622	897	S>G		No	ClinGen ExAC gnomAD
rs1194708536 CA384506167	899	W>*		No	ClinGen gnomAD
TCGA novel	902	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs762843965 CA6531162	903	Q>L		No	ClinGen ExAC gnomAD
rs11542093 CA236461695	904	Q>H		No	ClinGen Ensembl
rs753898828 CA6531161	904	Q>K		No	ClinGen ExAC gnomAD
CA236461719 rs1001721665	904	Q>R		No	ClinGen TOPMed gnomAD
CA384506057 rs1307339436	907	V>D		No	ClinGen TOPMed
rs1334482248 CA384506063	907	V>I		No	ClinGen gnomAD
CA6531159 rs374334310	908	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA384506049 rs1225713060	908	I>V		No	ClinGen TOPMed
CA6531158 rs773434527	909	D>N		No	ClinGen ExAC TOPMed gnomAD
CA384506007 rs141087098	910	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs762207147 CA6531156	911	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs762207147 CA384506003	911	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs146522636 CA6531154	912	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6531155 rs202032840	912	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749878386 CA6531153	913	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1231064345 CA384505954	914	L>P		No	ClinGen gnomAD
CA384505942 rs1437847546	915	S>C		No	ClinGen TOPMed gnomAD
rs1437847546 CA384505940	915	S>F		No	ClinGen TOPMed gnomAD
rs1181029231 CA384505947	915	S>P		No	ClinGen gnomAD
CA6531151 rs769445087	916	R>C		No	ClinGen ExAC gnomAD
rs1211348676 CA384505931 COSM4786980 COSM1361815	916	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
TCGA novel	917	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA6531149 rs372112971	919	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230353165 CA384505896	919	R>Q		No	ClinGen TOPMed gnomAD
CA384505873 rs1349017600	920	E>D		No	ClinGen gnomAD
rs756896746 CA6531148	923	P>A		No	ClinGen ExAC TOPMed gnomAD
COSM693846 COSM4860736	924	P>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs149966815 CA6531147	924	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with O95398

No regional properties for O95398

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O95398

Functions

		Description
EC Number
Subcellular Localization	Endomembrane system
PANTHER Family	PTHR23113	GUANINE NUCLEOTIDE EXCHANGE FACTOR
PANTHER Subfamily	PTHR23113:SF24	RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 3
PANTHER Protein Class	guanyl-nucleotide exchange factor G-protein modulator protein-binding activity modulator
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
endomembrane system	A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
filopodium	Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
microvillus	Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
cAMP binding	Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate).
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.
protein domain specific binding	Binding to a specific domain of a protein.

18 GO annotations of biological process

Name	Definition
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
associative learning	Learning by associating a stimulus (the cause) with a particular outcome (the effect).
cAMP-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell.
cellular response to cAMP	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus.
establishment of endothelial barrier	The establishment of a barrier between endothelial cell layers, such as those in the brain, lung or intestine, to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition.
negative regulation of syncytium formation by plasma membrane fusion	Any process that decreases the frequency, rate or extent of the formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
positive regulation of protein export from nucleus	Any process that activates or increases the frequency, rate or extent of directed movement of proteins from the nucleus into the cytoplasm.
positive regulation of stress fiber assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
positive regulation of syncytium formation by plasma membrane fusion	Any process that increases the frequency, rate or extent of the formation of a syncytium, a mass of cytoplasm containing several nuclei enclosed within a single plasma membrane, by the fusion of the plasma membranes of two or more individual cells.
Rap protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Rap family of proteins switching to a GTP-bound active state.
Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of angiogenesis	Any process that modulates the frequency, rate or extent of angiogenesis.
regulation of phosphatidylinositol 3-kinase signaling	Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07890	SOS2	Son of sevenless homolog 2	Homo sapiens (Human)	SS
Q07889	SOS1	Son of sevenless homolog 1	Homo sapiens (Human)	EV
Q13905	RAPGEF1	Rap guanine nucleotide exchange factor 1	Homo sapiens (Human)	PR
Q8WZA2	RAPGEF4	Rap guanine nucleotide exchange factor 4	Homo sapiens (Human)	SS
Q8N431	RASGEF1C	Ras-GEF domain-containing family member 1C	Homo sapiens (Human)	PR
Q8N9B8	RASGEF1A	Ras-GEF domain-containing family member 1A	Homo sapiens (Human)	PR
Q8IZJ4	RGL4	Ral-GDS-related protein	Homo sapiens (Human)	PR
Q12967	RALGDS	Ral guanine nucleotide dissociation stimulator	Homo sapiens (Human)	PR
O95267	RASGRP1	RAS guanyl-releasing protein 1	Homo sapiens (Human)	EV
Q8TDF6	RASGRP4	RAS guanyl-releasing protein 4	Homo sapiens (Human)	SS
Q7LDG7	RASGRP2	RAS guanyl-releasing protein 2	Homo sapiens (Human)	EV SS
Q8IV61	RASGRP3	Ras guanyl-releasing protein 3	Homo sapiens (Human)	SS
Q86X27	RALGPS2	Ras-specific guanine nucleotide-releasing factor RalGPS2	Homo sapiens (Human)	PR
Q5JS13	RALGPS1	Ras-specific guanine nucleotide-releasing factor RalGPS1	Homo sapiens (Human)	PR
Q9EQZ6	Rapgef4	Rap guanine nucleotide exchange factor 4	Mus musculus (Mouse)	EV
Q8VCC8	Rapgef3	Rap guanine nucleotide exchange factor 3	Mus musculus (Mouse)	SS
Q9Z1C8	Rapgef3	Rap guanine nucleotide exchange factor 3	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MKVGWPGESC	WQVGLAVEDS	PALGAPRVGA	LPDVVPEGTL	LNMVLRRMHR	PRSCSYQLLL
70	80	90	100	110	120
EHQRPSCIQG	LRWTPLTNSE	ESLDFSESLE	QASTERVLRA	GRQLHRHLLA	TCPNLIRDRK
130	140	150	160	170	180
YHLRLYRQCC	SGRELVDGIL	ALGLGVHSRS	QVVGICQVLL	DEGALCHVKH	DWAFQDRDAQ
190	200	210	220	230	240
FYRFPGPEPE	PVRTHEMEEE	LAEAVALLSQ	RGPDALLTVA	LRKPPGQRTD	EELDLIFEEL
250	260	270	280	290	300
LHIKAVAHLS	NSVKRELAAV	LLFEPHSKAG	TVLFSQGDKG	TSWYIIWKGS	VNVVTHGKGL
310	320	330	340	350	360
VTTLHEGDDF	GQLALVNDAP	RAATIILRED	NCHFLRVDKQ	DFNRIIKDVE	AKTMRLEEHG
370	380	390	400	410	420
KVVLVLERAS	QGAGPSRPPT	PGRNRYTVMS	GTPEKILELL	LEAMGPDSSA	HDPTETFLSD
430	440	450	460	470	480
FLLTHRVFMP	SAQLCAALLH	HFHVEPAGGS	EQERSTYVCN	KRQQILRLVS	QWVALYGSML
490	500	510	520	530	540
HTDPVATSFL	QKLSDLVGRD	TRLSNLLREQ	WPERRRCHRL	ENGCGNASPQ	MKARNLPVWL
550	560	570	580	590	600
PNQDEPLPGS	SCAIQVGDKV	PYDICRPDHS	VLTLQLPVTA	SVREVMAALA	QEDGWTKGQV
610	620	630	640	650	660
LVKVNSAGDA	IGLQPDARGV	ATSLGLNERL	FVVNPQEVHE	LIPHPDQLGP	TVGSAEGLDL
670	680	690	700	710	720
VSAKDLAGQL	TDHDWSLFNS	IHQVELIHYV	LGPQHLRDVT	TANLERFMRR	FNELQYWVAT
730	740	750	760	770	780
ELCLCPVPGP	RAQLLRKFIK	LAAHLKEQKN	LNSFFAVMFG	LSNSAISRLA	HTWERLPHKV
790	800	810	820	830	840
RKLYSALERL	LDPSWNHRVY	RLALAKLSPP	VIPFMPLLLK	DMTFIHEGNH	TLVENLINFE
850	860	870	880	890	900
KMRMMARAAR	MLHHCRSHNP	VPLSPLRSRV	SHLHEDSQVA	RISTCSEQSL	STRSPASTWA
910	920
YVQQLKVIDN	QRELSRLSRE	LEP