AiPD: Autoinhibited Protein Database

Q684P5

Gene name	RAP1GAP2 (GARNL4, KIAA1039, RAP1GA2)
Protein name	Rap1 GTPase-activating protein 2
Names	Rap1GAP2, GTPase-activating Rap/Ran-GAP domain-like protein 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23108
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-167 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-167 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q684P5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q684P5-F1	Predicted				AlphaFoldDB

539 variants for Q684P5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs868571850 CA286625301	3	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs867183095 CA286625303	4	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA286625302 rs746923589	4	R>W		No	ClinGen ExAC TOPMed gnomAD
CA286625304 rs867376354	5	K>N		No	ClinGen Ensembl
rs768476208 CA8285121	6	R>C		No	ClinGen ExAC gnomAD
rs776282806 CA8285122	6	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1271891271 CA397711164	7	S>G		No	ClinGen gnomAD
CA286625306 rs944652282	10	F>S		No	ClinGen TOPMed gnomAD
rs867726132 CA286625309	11	G>V		No	ClinGen Ensembl
CA286625308 rs867215744	11	G>W		No	ClinGen Ensembl
CA286625310 rs866408033	12	G>V		No	ClinGen Ensembl
CA286625311 rs924460885	14	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs138309648 CA8285138	17	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1362329867 CA397711717	18	K>E		No	ClinGen gnomAD
rs1471272367 CA397711723	18	K>R		No	ClinGen gnomAD
CA8285139 rs781124588	19	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8285140 rs747898728	20	M>I		No	ClinGen ExAC gnomAD
CA397711797 rs1597332151	22	A>S		No	ClinGen Ensembl
rs1174208640 CA397711815	22	A>V		No	ClinGen gnomAD
rs771203376 CA8285144	26	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1461971606 CA397711904	26	V>F		No	ClinGen gnomAD
CA8285145 rs771203376	26	V>G		No	ClinGen ExAC TOPMed gnomAD
CA397712893 rs1376214711	28	K>E		No	ClinGen gnomAD
CA397712905 rs1200231762	29	Q>R		No	ClinGen TOPMed
CA8285174 rs766023650	31	L>M		No	ClinGen ExAC gnomAD
rs1050902580 CA286686424	33	N>D		No	ClinGen TOPMed gnomAD
TCGA novel	34	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8285176 rs754468943	35	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754468943 CA397712944	35	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1328671931 CA397712951	36	D>V		No	ClinGen gnomAD
rs1052744144 CA286686439	37	A>S		No	ClinGen TOPMed
rs543243963 CA8285178	37	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397712961 rs1225025493	38	T>N		No	ClinGen gnomAD
rs1597571829 CA397712959	38	T>P		No	ClinGen Ensembl
CA286686482 rs1043357831	40	P>L		No	ClinGen TOPMed gnomAD
CA397712977 rs749102479	41	D>A		No	ClinGen ExAC gnomAD
CA8285182 rs749102479	41	D>G		No	ClinGen ExAC gnomAD
CA286686487 rs905744179	41	D>N		No	ClinGen TOPMed
CA397712983 rs1193363094	42	R>Q		No	ClinGen TOPMed gnomAD
CA8285183 rs757081722	42	R>W		No	ClinGen ExAC TOPMed gnomAD
rs779304079 CA8285184	43	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779304079 CA397712988	43	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8285186 rs772081049	44	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8285187 rs775631659	45	S>P		No	ClinGen ExAC gnomAD
CA397713008 rs1401627800	47	P>A		No	ClinGen TOPMed
CA8285189 rs368651287	49	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	50	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200197822 CA8285191	51	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1421925645 CA397713042	53	T>S		No	ClinGen TOPMed
rs1479671895 CA397713050	54	M>T		No	ClinGen gnomAD
CA8285192 rs765537023	54	M>V		No	ClinGen ExAC TOPMed gnomAD
rs753861727	56	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8285221 rs763671212	56	S>L		No	ClinGen ExAC gnomAD
rs761842562 CA8285223	57	S>L		No	ClinGen ExAC TOPMed gnomAD
rs750248839 CA8285225	58	E>K		No	ClinGen ExAC TOPMed gnomAD
CA397645512 rs750248839	58	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs780356057 CA8285227	61	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA397645588 rs1177702356	62	M>V		No	ClinGen gnomAD
rs751685393 CA8285228	67	Q>R		No	ClinGen ExAC gnomAD
rs768439917 CA8285257	68	G>E		No	ClinGen ExAC TOPMed gnomAD
rs746720452 CA397646322	68	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746720452 CA8285256	68	G>W		No	ClinGen ExAC gnomAD
TCGA novel	70	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397646360 rs1479972630	71	L>F		No	ClinGen TOPMed
CA397646388 rs1407725043	74	Q>*		No	ClinGen gnomAD
rs776359668 CA8285259	76	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397646405 rs776359668	76	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1161940887 CA397646409	77	G>E		No	ClinGen gnomAD
CA8285260 rs761442664	77	G>R		No	ClinGen ExAC gnomAD
TCGA novel	79	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769139751 CA8285261	79	Q>R		No	ClinGen ExAC gnomAD
CA8285262 rs773251575	80	K>R		No	ClinGen ExAC TOPMed gnomAD
rs762769682 CA8285263	81	N>K		No	ClinGen ExAC gnomAD
rs1366805938 CA397646436	81	N>S		No	ClinGen gnomAD
CA8285281 rs748773199	84	D>N		No	ClinGen ExAC gnomAD
rs960952607 CA286939889	85	Y>C		No	ClinGen gnomAD
rs770777215 CA8285282	86	I>V		No	ClinGen ExAC gnomAD
CA397646498 rs1597734630	88	Y>S		No	ClinGen Ensembl
rs1181392941 CA397646504	89	P>H		No	ClinGen gnomAD
CA286939909 rs972277990	92	D>N		No	ClinGen gnomAD
CA8285286 COSM977290 COSM977291 rs775727034	93	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs751009551 CA8285311	94	V>I		No	ClinGen ExAC gnomAD
CA8285312 rs763550871	96	E>K		No	ClinGen ExAC gnomAD
rs372935345 CA286940372	97	K>M		No	ClinGen ESP
CA8285313 rs369230671	97	K>N		No	ClinGen ESP ExAC gnomAD
rs1249339568 CA397646817	98	G>R		No	ClinGen TOPMed
CA8285314 rs376892200	100	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA286940382 rs916245973	101	Y>S		No	ClinGen Ensembl
CA8285316 rs777311706	102	P>A		No	ClinGen ExAC gnomAD
CA397646851 rs1597736360	103	Q>R		No	ClinGen Ensembl
rs1597736403 CA397646863	105	I>T		No	ClinGen Ensembl
CA8285317 rs753505788	105	I>V		No	ClinGen ExAC
rs778387132 CA8285319	112	Y>C		No	ClinGen ExAC gnomAD
CA8285321 rs567313018	113	W>R		No	ClinGen 1000Genomes ExAC gnomAD
rs746815636 CA8285323	115	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8285324 rs768450726	116	D>G		No	ClinGen ExAC gnomAD
CA8285325 COSM241351 rs776769717	117	P>L	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA397646960 rs369295361	119	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8285327 rs770068623	120	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM4129816 rs199980639 CA8285328 COSM4129817	121	G>D	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1266997630 CA397646969	121	G>S		No	ClinGen gnomAD
rs1597736582 CA397646976	122	T>P		No	ClinGen Ensembl
CA397646989 rs1465896974	123	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs759866014 CA8285332	124	T>I		No	ClinGen ExAC gnomAD
rs1055821861 CA286940471	125	S>L		No	ClinGen TOPMed gnomAD
CA397647007 rs1242207097	125	S>P		No	ClinGen TOPMed gnomAD
CA397647018 rs1166384334	126	L>P		No	ClinGen gnomAD
CA8285333 rs767890623	127	G>V		No	ClinGen ExAC gnomAD
rs1416559126 CA397647048	129	S>N		No	ClinGen TOPMed
CA397647064 rs1157229211	130	I>T		No	ClinGen TOPMed
CA8285334 rs753499042	131	C>Y		No	ClinGen ExAC gnomAD
CA397647169 rs1457879991	138	N>S		No	ClinGen TOPMed gnomAD
rs1457879991 CA397647167	138	N>T		No	ClinGen TOPMed gnomAD
rs778476656 CA8285336	139	L>V		No	ClinGen ExAC gnomAD
rs749944494 CA8285337	140	S>I		No	ClinGen ExAC gnomAD
CA8285338 rs376239849	141	P>L		No	ClinGen ESP ExAC gnomAD
rs1320689646 CA397647226	143	T>I		No	ClinGen gnomAD
TCGA novel	152	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8285341 rs768377488	156	A>T		No	ClinGen ExAC gnomAD
CA397647369 rs1473332158	156	A>V		No	ClinGen TOPMed
rs748439297 CA8285343	158	R>Q		No	ClinGen ExAC gnomAD
CA8285342 rs781038438	158	R>W		No	ClinGen ExAC
rs201871372 CA8285344	163	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA397647570 rs1460661830	170	Y>C		No	ClinGen gnomAD
rs1181203871 CA397647595	172	T>I		No	ClinGen gnomAD
rs1181203871 CA397647598	172	T>N		No	ClinGen gnomAD
rs754931216 CA8285359	173	G>S		No	ClinGen ExAC gnomAD
rs145636425 CA8285362	183	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA286941784 rs372306044	184	K>E		No	ClinGen ESP gnomAD
rs749488788 CA8285364	186	E>K		No	ClinGen ExAC gnomAD
rs1222192261 CA397647781	188	A>V		No	ClinGen gnomAD
CA397647822 rs1192211526	192	E>K		No	ClinGen gnomAD
CA8285369 rs775939699	195	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772633231 CA8285368	195	R>W		No	ClinGen ExAC gnomAD
rs1390984507 CA397647873	196	V>D		No	ClinGen gnomAD
rs190039938 CA286941856	197	I>N		No	ClinGen 1000Genomes gnomAD
CA286941872 rs889818497	198	L>F		No	ClinGen TOPMed
CA8285394 rs17762452 VAR_037553	202	L>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs375908639 CA286908717	204	T>M		No	ClinGen ESP TOPMed gnomAD
rs1460890060 CA397644308	205	V>I		No	ClinGen gnomAD
rs767102582 CA8285397	206	H>R		No	ClinGen ExAC gnomAD
RCV000947752 CA8285398 rs75798518	208	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA286908719 rs891194386	208	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1411244014 CA397644340	210	P>A		No	ClinGen gnomAD
rs1411244014 CA397644341	210	P>S		No	ClinGen gnomAD
CA8285400 rs764061946	211	L>F		No	ClinGen ExAC gnomAD
CA8285401 rs554959728	215	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs756960027 CA8285402	216	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1001078849 CA286908736	217	L>F		No	ClinGen Ensembl
rs371114680 CA286908738	223	I>M		No	ClinGen ESP TOPMed gnomAD
CA397644597 rs1393147663	227	F>L		No	ClinGen gnomAD
CA397644616 rs1345422092	228	C>S		No	ClinGen gnomAD
rs1231244658 CA397644670	232	V>A		No	ClinGen gnomAD
rs1276697617 CA397644697	235	R>K		No	ClinGen gnomAD
rs367931879 CA8285423	237	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8285425 rs751643640	240	L>M		No	ClinGen ExAC TOPMed
rs1348546975 CA397644744	242	P>H		No	ClinGen gnomAD
rs201656017 CA8285427	243	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8285446 rs751733599	244	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	246	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397645387 rs1457466266	252	D>H		No	ClinGen TOPMed
CA8285448 rs367849340	256	V>I		No	ClinGen ESP ExAC TOPMed
rs756590946 CA8285450	257	N>D		No	ClinGen ExAC gnomAD
rs778271684 CA8285451	257	N>I		No	ClinGen ExAC gnomAD
rs778271684 CA397645446	257	N>S		No	ClinGen ExAC gnomAD
CA397645461 rs1436104249	258	N>K		No	ClinGen TOPMed gnomAD
rs371274877 CA8285452	258	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs779898521 CA8285454	263	G>V		No	ClinGen ExAC gnomAD
rs768350118 CA8285456	264	V>A		No	ClinGen ExAC gnomAD
CA286912195 rs944207789	264	V>I		No	ClinGen TOPMed
CA8285457 rs775995917	266	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	269	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397645686 rs1200648150	270	R>S		No	ClinGen gnomAD
rs995630102 CA286916615	279	G>W		No	ClinGen Ensembl
rs1318781498 CA397646609	281	N>D		No	ClinGen TOPMed
rs1437148230 CA397646612	281	N>T		No	ClinGen TOPMed
rs1482905005 CA397646623	282	E>D		No	ClinGen gnomAD
CA8285479 rs770768535	284	S>I		No	ClinGen ExAC TOPMed gnomAD
rs377707656 CA8285480	286	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs759259612 CA8285481	292	D>N		No	ClinGen ExAC gnomAD
CA286916668 rs552834765	292	D>V		No	ClinGen 1000Genomes
CA397646716 rs1375875709	296	D>G		No	ClinGen gnomAD
CA397646714 rs1303597525	296	D>H		No	ClinGen gnomAD
rs144985620 CA8285484	297	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1391528681 CA397646728	298	I>N		No	ClinGen TOPMed gnomAD
rs1309871189 CA397646735	299	T>I		No	ClinGen gnomAD
rs1373969875 CA397646753	302	D>H		No	ClinGen TOPMed
CA397646771 rs1190982792	304	K>R		No	ClinGen TOPMed
TCGA novel	307	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387976639 CA397647952	307	R>Q		No	ClinGen gnomAD
CA8285494 rs755620999	308	G>R		No	ClinGen ExAC gnomAD
CA8285495 rs777249908	309	G>D		No	ClinGen ExAC gnomAD
rs1423706108 CA397647998	312	V>M		No	ClinGen TOPMed
CA8285497 rs770858446	314	H>R		No	ClinGen ExAC gnomAD
CA8285499 rs370929572	315	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA397648051 rs1489537126	316	Q>P		No	ClinGen gnomAD
CA397648058 rs1194322220	317	T>A		No	ClinGen gnomAD
rs1597824184 TCGA novel CA397648121	322	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA8285505 rs761922333	327	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8285504 rs776868511	327	R>W		No	ClinGen ExAC TOPMed gnomAD
CA397648182 rs1389656726	328	D>V		No	ClinGen TOPMed gnomAD
CA286919134 rs919908533	332	M>V		No	ClinGen TOPMed
CA8285508 rs567932623	335	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1432480071 CA397648358	343	D>N		No	ClinGen TOPMed gnomAD
rs775038809 CA286919144	344	G>R		No	ClinGen TOPMed gnomAD
rs376964895 CA8285512	346	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1285288695 CA397648923	352	K>N		No	ClinGen gnomAD
TCGA novel	356	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA286920981 rs773498545	356	G>R		No	ClinGen Ensembl
rs1235547167 CA397649001	357	N>K		No	ClinGen gnomAD
rs758372483 CA8285536	358	D>N		No	ClinGen ExAC gnomAD
rs1411122753 CA397649030	360	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397649034 rs1435535253	361	A>T		No	ClinGen TOPMed
rs939584625 CA286920991	362	I>V		No	ClinGen Ensembl
rs754771938 CA8285539	363	I>M		No	ClinGen ExAC TOPMed gnomAD
CA397649049 rs1159795719	363	I>T		No	ClinGen gnomAD
rs746855867 CA8285538	363	I>V		No	ClinGen ExAC TOPMed gnomAD
CA397649079 rs1173455253	367	E>G		No	ClinGen TOPMed gnomAD
CA8285541 rs748351260	369	T>M		No	ClinGen ExAC gnomAD
rs773353846 CA8285543	370	P>L		No	ClinGen ExAC TOPMed gnomAD
rs771499244 CA8285545	374	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	375	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397649132 rs1260592197	375	M>T		No	ClinGen TOPMed
CA8285546 rs774671102	377	A>V		No	ClinGen ExAC TOPMed gnomAD
CA397649173 rs1466485391	381	L>*		No	ClinGen TOPMed
rs759938375 CA8285547	382	H>R		No	ClinGen ExAC gnomAD
CA397649180 rs1217720742	382	H>Y		No	ClinGen gnomAD
CA286921010 rs367580507	384	Y>C		No	ClinGen ESP
rs1241709326 CA397649199	385	I>V		No	ClinGen TOPMed
rs182035422 CA8285548	386	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761439874 CA8285551	387	V>L		No	ClinGen ExAC TOPMed gnomAD
rs761439874 CA8285550	387	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749956509 CA8285552	389	V>F		No	ClinGen ExAC gnomAD
CA397649222 rs749956509	389	V>I		No	ClinGen ExAC gnomAD
rs763486056 CA8285555	390	E>K		No	ClinGen ExAC TOPMed gnomAD
rs937660096 CA286921016	391	T>I		No	ClinGen TOPMed gnomAD
rs751429826 CA8285556	392	P>Q		No	ClinGen ExAC gnomAD
CA397649241 rs1189141103	392	P>S		No	ClinGen gnomAD
TCGA novel	393	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781131595 CA8285558	395	E>G		No	ClinGen ExAC gnomAD
CA397649266 rs753028462	396	T>N		No	ClinGen ExAC TOPMed gnomAD
CA8285559 rs753028462	396	T>S		No	ClinGen ExAC TOPMed gnomAD
CA397649269 rs369688833	397	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8285561 rs777816358	397	P>L		No	ClinGen ExAC gnomAD
CA8285560 rs369688833	397	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373588451 CA286921023	400	K>N		No	ClinGen ESP gnomAD
CA286925760 rs1021454285	401	V>A		No	ClinGen Ensembl
rs757421497 CA8285581	403	V>A		No	ClinGen ExAC gnomAD
CA397649907 rs1468506110	403	V>F		No	ClinGen gnomAD
CA286925767 rs778841447	405	A>E		No	ClinGen ExAC gnomAD
CA8285582 rs778841447	405	A>V		No	ClinGen ExAC gnomAD
rs376115625 CA397649941	406	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376115625 CA8285584	406	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1520793 COSM1520792 CA286925776 rs959378939	406	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8285585 rs780499632	411	T>I		No	ClinGen ExAC gnomAD
rs772961362 CA8285588	415	P>L		No	ClinGen ExAC gnomAD
CA8285587 rs557635021	415	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA397650076 rs1324529247	417	P>S		No	ClinGen gnomAD
CA8285589 rs748892438	418	S>G		No	ClinGen ExAC gnomAD
CA397650103 rs371060005	419	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8285590 rs371060005	419	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	421	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767581023 CA8285593	421	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397650269 rs1374938975	425	G>D		No	ClinGen gnomAD
CA8285621 rs199628910	426	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1235956182 CA397650295	427	E>G		No	ClinGen gnomAD
TCGA novel	434	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397650390 rs1597854569	434	T>S		No	ClinGen Ensembl
CA397650446 rs1304644379	438	N>S		No	ClinGen gnomAD
CA286926121 rs756575370	439	A>T		No	ClinGen Ensembl
CA397650467 rs1344992476	440	E>K		No	ClinGen TOPMed
rs748481508 CA397650500	442	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1382327 CA8285625 COSM1382328 rs748481508	442	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA286926123 rs917099267	443	C>S		No	ClinGen TOPMed
CA8285626 rs756475782	445	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8285627 rs778744234	446	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1194445663 CA397650567	447	D>H		No	ClinGen gnomAD
rs1395487718 CA397650589	448	K>R		No	ClinGen gnomAD
CA397650597 rs1161097851	449	F>L		No	ClinGen TOPMed
CA8285629 rs771765452	450	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8285645 rs754195913	454	D>G		No	ClinGen ExAC gnomAD
rs372912230 CA8285646	455	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1057191693 CA286927252	455	R>W		No	ClinGen TOPMed gnomAD
CA8285647 rs779810626	459	A>S		No	ClinGen ExAC gnomAD
rs1344661221 CA397650692	460	L>R		No	ClinGen TOPMed
rs748112661 CA8285651 CA397650711	463	N>K		No	ClinGen ExAC gnomAD
rs761039408 CA8285650	463	N>S		No	ClinGen ExAC TOPMed gnomAD
CA397650714 rs1315358604	464	L>I		No	ClinGen TOPMed gnomAD
CA8285653 rs773008500	466	D>G	Variant assessed as Somatic; 0.0001857 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1483978320 CA397650726	466	D>N		No	ClinGen gnomAD
rs762672653 CA8285654	467	E>K		No	ClinGen ExAC gnomAD
CA286927274 rs36016465	469	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA286927277 rs563503874	470	A>S		No	ClinGen ExAC gnomAD
CA8285657 rs563503874	470	A>T		No	ClinGen ExAC gnomAD
CA8285658 rs199942375	470	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA397650757 rs761276794	471	H>D		No	ClinGen ExAC gnomAD
rs761276794 CA8285660	471	H>Y		No	ClinGen ExAC gnomAD
rs758784494 CA286927288	476	L>V		No	ClinGen Ensembl
rs1484881594 CA397650803	478	L>V		No	ClinGen TOPMed
rs764628288 CA8285661	480	P>L		No	ClinGen ExAC gnomAD
CA397650814 rs1346197626	480	P>S		No	ClinGen gnomAD
CA8285663 rs757645781	483	D>E		No	ClinGen ExAC gnomAD
TCGA novel	483	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415867480 CA397650846	484	K>M		No	ClinGen TOPMed gnomAD
rs1415867480 CA397650845	484	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	486	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA286927292 rs1005692064	486	E>Q		No	ClinGen TOPMed gnomAD
rs779624863 CA8285664	487	N>K		No	ClinGen ExAC gnomAD
rs1225716063 CA397650898	492	G>R		No	ClinGen gnomAD
rs376312444 CA8285668	493	F>L		No	ClinGen ESP ExAC gnomAD
rs779171787	493	F>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs376312444 CA397650904	493	F>V		No	ClinGen ESP ExAC gnomAD
CA397650921 rs964630173	495	E>D		No	ClinGen TOPMed gnomAD
rs778201396 CA286927320	495	E>V		No	ClinGen Ensembl
TCGA novel	497	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA286937008 rs868395003	500	A>T		No	ClinGen Ensembl
rs1370917017 CA397652460	500	A>V		No	ClinGen TOPMed
CA397652462 rs1187573004	501	I>V		No	ClinGen TOPMed
CA397652470 rs1394960926	502	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397652471 rs1412068087	502	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8285690 rs757054651	503	V>I		No	ClinGen ExAC TOPMed gnomAD
rs757054651 CA397652475	503	V>L		No	ClinGen ExAC TOPMed gnomAD
CA397652481 rs1442413773	504	R>C		No	ClinGen TOPMed
COSM1382334 rs771141288 COSM1382333 CA286937013	504	R>H	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1372972760 CA397652494	506	H>Y		No	ClinGen gnomAD
CA397652511 rs1269594454	508	M>R		No	ClinGen gnomAD
CA397652507 rs1367167592	508	M>V		No	ClinGen gnomAD
CA8285692 rs569151472	510	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8285693 rs569151472	510	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs960146538 CA286937038	512	V>L		No	ClinGen TOPMed
CA397652547 rs1215284716	514	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	516	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8285695 rs374406416	518	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA286937049 rs994818571	519	H>Y		No	ClinGen gnomAD
rs1597885656 CA397652596	520	S>R		No	ClinGen Ensembl
TCGA novel	521	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1049212624 CA286937053	521	G>R		No	ClinGen gnomAD
rs61755902 CA286937055	522	G>C		No	ClinGen Ensembl
CA397652613 rs1476687059	523	I>M		No	ClinGen gnomAD
CA286937073 rs889214737	524	P>A		No	ClinGen TOPMed gnomAD
rs1334747410 CA397652617	524	P>L		No	ClinGen TOPMed
CA397652614 rs889214737	524	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs889214737 CA286937070	524	P>T		No	ClinGen TOPMed gnomAD
rs1417293276 CA397652618	525	G>S		No	ClinGen gnomAD
CA286937075 rs984640552	526	S>G		No	ClinGen TOPMed
CA397652633 rs1459918575	527	L>F		No	ClinGen gnomAD
rs1395491431 CA397652645	529	G>R		No	ClinGen gnomAD
rs1381800943 CA397652653	530	G>C		No	ClinGen gnomAD
rs1317397226 CA397652659	531	I>L		No	ClinGen gnomAD
rs1317397226 CA397652658	531	I>V		No	ClinGen gnomAD
CA8285700 rs367545939	532	S>F		No	ClinGen ESP ExAC gnomAD
CA397652673 rs1392406631	533	H>P		No	ClinGen TOPMed
CA397652674 rs1392406631	533	H>R		No	ClinGen TOPMed
CA397652680 rs1597885851	534	N>D		No	ClinGen Ensembl
rs763191794 CA8285701	534	N>S		No	ClinGen ExAC gnomAD
CA397652697 rs1230910727	535	S>G		No	ClinGen TOPMed gnomAD
rs1274430088 CA397652704	535	S>N		No	ClinGen gnomAD
rs1335088862 CA397652713	536	M>V		No	ClinGen gnomAD
rs1204135884 CA397652806	542	T>I		No	ClinGen gnomAD
rs375234077 CA397652833	544	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs375234077 CA8285703	544	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA286938476 rs544129149	545	P>A		No	ClinGen 1000Genomes gnomAD
rs200375904 CA286938477	546	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs372158286 CA8285731	546	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA397653443 rs1213697095	547	V>G		No	ClinGen gnomAD
CA286938522 rs913762435	548	V>A		No	ClinGen TOPMed
rs913762435 CA397653447	548	V>G		No	ClinGen TOPMed
CA286938513 rs1052160276	548	V>M		No	ClinGen Ensembl
CA8285733 rs375879137	549	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748286381 CA8285735	550	A>S		No	ClinGen ExAC gnomAD
CA8285736 rs769743620	551	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1597891867 CA397653494	552	V>G		No	ClinGen Ensembl
CA8285738 rs372980490	552	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA397653526 rs1597891879	554	N>T		No	ClinGen Ensembl
rs771365418 CA8285739	555	Q>*		No	ClinGen ExAC TOPMed
rs771365418 CA397653533	555	Q>K		No	ClinGen ExAC TOPMed
rs1175499235 CA397653566	557	R>P		No	ClinGen TOPMed gnomAD
CA397653564 rs1175499235	557	R>Q		No	ClinGen TOPMed gnomAD
CA8285740 rs376172279	557	R>W		No	ClinGen ExAC gnomAD
rs1597891922 CA397653583	558	S>R		No	ClinGen Ensembl
rs1378126465 CA397653584	559	P>S		No	ClinGen TOPMed gnomAD
CA8285741 rs775012055	561	K>R		No	ClinGen ExAC gnomAD
CA8285742 rs768318872	562	R>*		No	ClinGen ExAC gnomAD
rs776122879 CA8285743	562	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs549183815 CA8285745	563	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8285746 rs750434688	563	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397653641 rs750434688	563	R>L		No	ClinGen ExAC TOPMed gnomAD
CA397653652 rs1236941338	564	S>L		No	ClinGen gnomAD
rs867704226 CA286938596	567	F>S		No	ClinGen Ensembl
rs751434439 CA397653700	568	P>L		No	ClinGen ExAC gnomAD
rs751434439 CA8285749	568	P>R		No	ClinGen ExAC gnomAD
CA397653698 rs1597892076	568	P>S		No	ClinGen Ensembl
rs1056218446 CA286938602	569	R>C		No	ClinGen TOPMed gnomAD
rs1056218446 CA397653709	569	R>G		No	ClinGen TOPMed gnomAD
CA8285750 rs375913923	569	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8285751 rs200335176	571	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781454135 CA8285752	572	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8285754 rs373169664	573	G>V		No	ClinGen ESP ExAC gnomAD
rs749319184 CA8285755	576	G>A		No	ClinGen ExAC gnomAD
CA397653798 rs1427874725	576	G>C		No	ClinGen gnomAD
rs749319184 CA8285756	576	G>D		No	ClinGen ExAC gnomAD
rs1014784593 CA286938644	577	Q>E		No	ClinGen gnomAD
CA8285757 rs779343807	577	Q>H		No	ClinGen ExAC gnomAD
CA8285759 rs772392945	579	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8285758 rs746279901	579	D>N		No	ClinGen ExAC gnomAD
rs1294505148 CA397653848	580	S>G		No	ClinGen gnomAD
rs1361646468 CA397653856	580	S>N		No	ClinGen TOPMed gnomAD
rs747743511 CA8285761 COSM230326	581	R>Q	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs376677490 CA8285760	581	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8285762 rs769431801	583	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8285763 rs772603181	583	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1361513297 CA397654514	586	S>N		No	ClinGen gnomAD
CA397654540 rs1311564176	588	S>F		No	ClinGen TOPMed gnomAD
CA286942522 rs898752398	588	S>P		No	ClinGen TOPMed gnomAD
CA397654537 rs1311564176	588	S>Y		No	ClinGen TOPMed gnomAD
CA8285795 rs780572360	593	T>I		No	ClinGen ExAC gnomAD
rs375851472 CA8285796	595	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA397654628 rs1371463084	596	G>D		No	ClinGen gnomAD
CA397654649 rs1225625644	598	H>L		No	ClinGen gnomAD
rs755350248 CA8285797	599	S>F		No	ClinGen ExAC gnomAD
CA397654653 rs1227754346	599	S>P		No	ClinGen TOPMed
rs777334043 CA8285798	600	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1278083634 CA397654702	603	I>T		No	ClinGen gnomAD
CA397654741 rs1443707756	607	T>N		No	ClinGen gnomAD
rs367794177 CA397654747	608	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8285800 rs367794177	608	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778566471 CA8285801	609	S>C		No	ClinGen ExAC
TCGA novel CA8285803 rs771923569	610	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA397654776 rs1180079675	612	S>I		No	ClinGen gnomAD
CA397654774 rs1180079675	612	S>T		No	ClinGen gnomAD
CA8285804 rs775474346	613	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1306038833 CA397654779	613	S>T		No	ClinGen TOPMed
rs768493495 COSM86108 CA8285806	614	P>L	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8285805 rs760426134	614	P>S		No	ClinGen ExAC gnomAD
CA8285808 COSM1172396 COSM1172397 rs762037360	615	E>D	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1597904429 CA397654804	615	E>V		No	ClinGen Ensembl
CA397654828 rs1328290885	617	C>F		No	ClinGen gnomAD
CA397654850 rs1352791361	619	N>K		No	ClinGen gnomAD
rs369289812 CA8285811	621	E>K		No	ClinGen ESP ExAC gnomAD
CA397654964 rs1452521321	624	F>S		No	ClinGen gnomAD
rs146149547 CA8285828	625	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146149547 CA8285827	625	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1240857890 CA397654984	626	K>Q		No	ClinGen gnomAD
rs773401819 CA8285829	629	E>G		No	ClinGen ExAC gnomAD
rs1194489607 CA397655040	630	N>D		No	ClinGen gnomAD
CA397655056 rs1460099083	631	G>C		No	ClinGen TOPMed gnomAD
CA397655053 rs1460099083	631	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs766479387 CA286942819	632	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774783201 CA397655067	632	R>H		No	ClinGen ExAC gnomAD
CA8285832 rs774783201	632	R>L		No	ClinGen ExAC gnomAD
CA8285831 rs766479387	632	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1401708341 CA397655078	633	A>G		No	ClinGen TOPMed gnomAD
rs768094326 CA397655074	633	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8285834 rs768094326	633	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1401708341 CA397655079	633	A>V		No	ClinGen TOPMed gnomAD
CA397655096 rs1242211572	635	S>Y		No	ClinGen gnomAD
rs373316733 CA8285836	636	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs955138969 CA286942837	636	R>H		No	ClinGen TOPMed gnomAD
CA397655101 rs373316733	636	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489569483 CA397655115	637	S>Y		No	ClinGen gnomAD
CA397655124 rs765020702	638	S>F		No	ClinGen ExAC TOPMed
CA8285837 rs765020702	638	S>Y		No	ClinGen ExAC TOPMed
CA397655135 rs1256948897	639	S>C		No	ClinGen gnomAD
CA8285840 rs377324035	644	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8285839 rs377324035	644	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8285841 rs746437903	647	T>A		No	ClinGen ExAC TOPMed gnomAD
CA397655227 rs746437903	647	T>S		No	ClinGen ExAC TOPMed gnomAD
CA397655234 rs1411969921	648	A>T		No	ClinGen TOPMed
CA397655274 rs1348343363	651	G>D		No	ClinGen TOPMed gnomAD
CA397655277 rs1348343363	651	G>V		No	ClinGen TOPMed gnomAD
rs971435063 CA286942904	652	E>K		No	ClinGen TOPMed
CA397655302 rs1340707769	654	M>V		No	ClinGen gnomAD
rs535243979 CA397655325	655	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA8285847 rs749516545	658	D>N		No	ClinGen ExAC TOPMed gnomAD
CA397655380 rs1484771563	660	G>E		No	ClinGen gnomAD
rs774517119 CA8285849	660	G>R		No	ClinGen ExAC gnomAD
CA286943391 rs986897531	662	S>C		No	ClinGen TOPMed gnomAD
CA286943395 rs912819099	662	S>I		No	ClinGen Ensembl
CA8285869 COSM1382337 rs776195452 COSM1382338	664	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs535215181 CA286943405	665	S>P		No	ClinGen 1000Genomes
CA397655467 rs1302564091	666	T>A		No	ClinGen gnomAD
rs769218293 CA8285871	666	T>M		No	ClinGen ExAC gnomAD
rs777085909 CA8285872	670	F>V		No	ClinGen ExAC gnomAD
CA286943425 rs190111838	671	K>Q		No	ClinGen 1000Genomes
CA397655512 rs1318897969	673	E>K		No	ClinGen gnomAD
rs1597907094 CA397655523	674	V>G		No	ClinGen Ensembl
CA286943432 rs989518287	676	V>A		No	ClinGen TOPMed gnomAD
rs1192908859 CA397655550	678	S>G		No	ClinGen gnomAD
rs1267966816 CA397655570	679	P>L		No	ClinGen gnomAD
CA397655567 rs1267966816	679	P>Q		No	ClinGen gnomAD
rs766105287 CA8285874	680	S>Y		No	ClinGen ExAC gnomAD
CA8285875 rs369926973	681	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA286943434 rs369926973	681	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	681	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1332464039 CA397655596	682	S>N		No	ClinGen gnomAD
rs767004022 CA8285877	683	S>I		No	ClinGen ExAC gnomAD
rs767004022 CA286943445	683	S>N		No	ClinGen ExAC gnomAD
rs1294700773 CA397655617	684	E>K		No	ClinGen gnomAD
rs1384884430 CA397655649	686	P>R		No	ClinGen gnomAD
rs1273713650 CA397655680	689	G>E		No	ClinGen TOPMed gnomAD
CA8285880 rs777517969	689	G>R		No	ClinGen ExAC
rs1280203063 CA397655702	691	A>V		No	ClinGen gnomAD
rs1232952097 CA397655705	692	A>T		No	ClinGen gnomAD
CA397655714 rs1310831555	692	A>V		No	ClinGen TOPMed gnomAD
rs746073237 CA8285884	694	P>L		No	ClinGen ExAC gnomAD
rs779259683 CA8285883	694	P>T		No	ClinGen ExAC
CA397655736 rs1214308561	695	I>V		No	ClinGen gnomAD
CA397655764 rs1264754372	697	M>T		No	ClinGen gnomAD
rs747045279 CA8285887	699	R>Q		No	ClinGen ExAC gnomAD
rs780285132 CA397655786	699	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1411179181 CA397655796	700	S>N		No	ClinGen gnomAD
rs937506534 CA286947009	704	A>D		No	ClinGen Ensembl
CA397656123 rs1433333972	705	K>R		No	ClinGen TOPMed
CA397656138 rs531382074	707	R>I		No	ClinGen gnomAD
CA286947011 rs531382074	707	R>K		No	ClinGen gnomAD
rs1038362742 CA286947017	709	S>F		No	ClinGen TOPMed gnomAD
CA8285905 rs754983165	710	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397656157 rs754983165	710	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8285906 rs754983165	710	P>R		No	ClinGen ExAC TOPMed gnomAD
rs770280991 CA8285908	712	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1055941723 CA286947045	713	N>S		No	ClinGen Ensembl
rs749616295 CA8285910	714	L>V		No	ClinGen ExAC TOPMed gnomAD
rs775089025 CA8285912	715	K>E		No	ClinGen ExAC TOPMed gnomAD
rs775089025 CA397656182	715	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA8285914 rs201869060	717	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776146779 CA8285915	717	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776146779 CA397656198	717	R>P		No	ClinGen ExAC TOPMed gnomAD
rs576727576 CA286947113	718	F>C		No	ClinGen 1000Genomes gnomAD
CA8285916 rs761658523	720	K>R		No	ClinGen ExAC gnomAD
CA397656223 rs1415100307	721	L>V		No	ClinGen gnomAD
rs370636290 CA8285918	722	S>N		No	ClinGen ESP ExAC gnomAD
CA8285919 rs758246702	723	H>L		No	ClinGen ExAC TOPMed gnomAD
rs374346245 CA397656235	723	H>N		No	ClinGen ESP TOPMed gnomAD
CA397656238 rs758246702	723	H>R		No	ClinGen ExAC TOPMed gnomAD
rs374346245 CA286947153	723	H>Y		No	ClinGen ESP TOPMed gnomAD
rs1435729817 CA397656246	724	A>V		No	ClinGen TOPMed gnomAD
COSM1223129 COSM1223130 CA8285922 rs200075336	728	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8285943 rs752746826	729	G>D		No	ClinGen ExAC gnomAD
CA397656623 rs1297481886	730	H>P		No	ClinGen gnomAD

No associated diseases with Q684P5

1 regional properties for Q684P5

Type	Name	Position	InterPro Accession
domain	Rap/Ran-GAP domain	248 - 464	IPR000331

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, perinuclear region
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
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.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.

4 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
regulation of cell size	Any process that modulates the size of a cell.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5ZMV8	RAP1GAP2	Rap1 GTPase-activating protein 2	Gallus gallus (Chicken)	PR
Q6GYQ0	RALGAPA1	Ral GTPase-activating protein subunit alpha-1	Homo sapiens (Human)	PR
Q6GYP7	Ralgapa1	Ral GTPase-activating protein subunit alpha-1	Mus musculus (Mouse)	PR
Q5SVL6	Rap1gap2	Rap1 GTPase-activating protein 2	Mus musculus (Mouse)	PR
P86409	RALGAPA1	Ral GTPase-activating protein subunit alpha-1	Sus scrofa (Pig)	PR

10	20	30	40	50	60
MFGRKRSVSF	GGFGWIDKTM	LASLKVKKQE	LANSSDATLP	DRPLSPPLTA	PPTMKSSEFF
70	80	90	100	110	120
EMLEKMQGIK	LEEQKPGPQK	NKDDYIPYPS	IDEVVEKGGP	YPQVILPQFG	GYWIEDPENV
130	140	150	160	170	180
GTPTSLGSSI	CEEEEEDNLS	PNTFGYKLEC	KGEARAYRRH	FLGKDHLNFY	CTGSSLGNLI
190	200	210	220	230	240
LSVKCEEAEG	IEYLRVILRS	KLKTVHERIP	LAGLSKLPSV	PQIAKAFCDD	AVGLRFNPVL
250	260	270	280	290	300
YPKASQMIVS	YDEHEVNNTF	KFGVIYQKAR	QTLEEELFGN	NEESPAFKEF	LDLLGDTITL
310	320	330	340	350	360
QDFKGFRGGL	DVTHGQTGVE	SVYTTFRDRE	IMFHVSTKLP	FTDGDAQQLQ	RKRHIGNDIV
370	380	390	400	410	420
AIIFQEENTP	FVPDMIASNF	LHAYIVVQVE	TPGTETPSYK	VSVTAREDVP	TFGPPLPSPP
430	440	450	460	470	480
VFQKGPEFRE	FLLTKLTNAE	NACCKSDKFA	KLEDRTRAAL	LDNLHDELHA	HTQAMLGLGP
490	500	510	520	530	540
EEDKFENGGH	GGFLESFKRA	IRVRSHSMET	MVGGQKKSHS	GGIPGSLSGG	ISHNSMEVTK
550	560	570	580	590	600
TTFSPPVVAA	TVKNQSRSPI	KRRSGLFPRL	HTGSEGQGDS	RARCDSTSST	PKTPDGGHSS
610	620	630	640	650	660
QEIKSETSSN	PSSPEICPNK	EKPFMKLKEN	GRAISRSSSS	TSSVSSTAGE	GEAMEEGDSG
670	680	690	700	710	720
GSQPSTTSPF	KQEVFVYSPS	PSSESPSLGA	AATPIIMSRS	PTDAKSRNSP	RSNLKFRFDK

LSHASSGAGH