AiPD: Autoinhibited Protein Database

Q5R372

Gene name	RABGAP1L
Protein name	Rab GTPase-activating protein 1-like
Names
Species	Homo sapiens (Human)
KEGG Pathway
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

423-531 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

423-531 (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

2 structures for Q5R372

Entry ID	Method	Resolution	Chain	Position	Source
3HZJ	X-ray	230 A	A/B/C	507-815	PDB
AF-Q5R372-F1	Predicted				AlphaFoldDB

596 variants for Q5R372

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA33088797 rs975702164	5	A>T		No	ClinGen Ensembl
CA1252294 rs755089191	8	Q>K		No	ClinGen ExAC gnomAD
rs748412316 CA1252296 COSM1336389	9	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764005310 CA1252297	13	S>A		No	ClinGen ExAC TOPMed gnomAD
CA343813484 rs1233304497	13	S>L		No	ClinGen TOPMed gnomAD
rs1221602563 CA343813498	14	S>F		No	ClinGen TOPMed gnomAD
CA343813515 rs1211644052	15	D>E		No	ClinGen gnomAD
CA1252299 rs147580824	15	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343813503 rs147580824	15	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA33088799 rs147580824	15	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	17	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs907619632 CA33088800	17	V>G		No	ClinGen gnomAD
rs940430402 CA33088801	19	T>A		No	ClinGen TOPMed
rs1249197652 CA343813603	22	S>N		No	ClinGen gnomAD
rs1037500832 CA33088802	23	E>D		No	ClinGen TOPMed gnomAD
CA343813627 COSM3418366 COSM3418365 rs769489801	24	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs769489801 CA1252300	24	E>Q		No	ClinGen ExAC gnomAD
rs1473803940 CA343813668	26	V>A		No	ClinGen gnomAD
CA1252301 rs775086519	26	V>I		No	ClinGen ExAC TOPMed gnomAD
CA343813686 rs1261146605	28	V>I		No	ClinGen TOPMed gnomAD
rs1571606595 CA343813703	29	P>S		No	ClinGen Ensembl
CA33088803 rs145032473	31	Y>F		No	ClinGen ESP TOPMed gnomAD
rs1429239949 CA343813741	32	A>T		No	ClinGen gnomAD
rs774029419 CA1252304	35	N>D		No	ClinGen ExAC gnomAD
rs1261223760 CA343813802	36	S>A		No	ClinGen TOPMed gnomAD
rs1461671503 CA343814630	40	E>K		No	ClinGen TOPMed gnomAD
CA343814654 rs1372140069	41	E>*		No	ClinGen gnomAD
rs761550150 CA1252306	43	P>H		No	ClinGen ExAC gnomAD
CA343814690 rs761550150	43	P>L		No	ClinGen ExAC gnomAD
CA343814692 rs1220386299	44	Q>E		No	ClinGen TOPMed gnomAD
CA343814701 rs767336125	44	Q>H		No	ClinGen ExAC TOPMed
CA343814691 rs1220386299	44	Q>K		No	ClinGen TOPMed gnomAD
rs773190439 CA1252311	46	K>N		No	ClinGen ExAC TOPMed gnomAD
rs764562653 CA1252342	47	I>M		No	ClinGen ExAC gnomAD
rs763179988 CA1252341	47	I>V		No	ClinGen ExAC TOPMed gnomAD
CA343814761 rs1163241779	50	N>D		No	ClinGen TOPMed gnomAD
rs751936854 CA1252343	51	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1252344 rs757670486	52	D>N		No	ClinGen ExAC gnomAD
rs1310341422 CA343814785	53	E>G		No	ClinGen TOPMed
TCGA novel	54	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781773559 CA1252345	55	L>W		No	ClinGen ExAC gnomAD
TCGA novel	57	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343814819 rs1451450861	58	A>P		No	ClinGen TOPMed gnomAD
CA343814818 rs1451450861	58	A>T		No	ClinGen TOPMed gnomAD
rs754501739 CA1252347	59	M>V		No	ClinGen ExAC gnomAD
rs1380315695 CA343814847	61	E>D		No	ClinGen gnomAD
rs995774539 CA33088936	62	I>V		No	ClinGen gnomAD
CA343814861 rs1336653658 COSM1336393	64	R>G	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1252349 rs138469250	67	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1209972098 CA343814895	68	K>N		No	ClinGen gnomAD
rs980484304 CA33088937	69	R>S		No	ClinGen Ensembl
CA343814910 rs1558042976	71	S>G		No	ClinGen Ensembl
rs771672084 CA1252350	71	S>N		No	ClinGen ExAC gnomAD
rs777566292 CA1252352	72	S>T		No	ClinGen ExAC
rs1041098336 CA33088940	73	L>R		No	ClinGen TOPMed
CA33088941 rs267598178	74	L>I		No	ClinGen Ensembl
CA343814941 rs1238300121	76	D>Y		No	ClinGen gnomAD
rs776501293 CA1252355	77	C>R		No	ClinGen ExAC gnomAD
rs17854182 CA343814962	78	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1252356 rs528581820	78	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1472304396 CA343814967	79	S>T		No	ClinGen TOPMed
CA1252358 rs775576293	80	S>A		No	ClinGen ExAC TOPMed gnomAD
CA343814976 rs1468874575	81	S>G		No	ClinGen gnomAD
CA1252360 rs764366634	81	S>R		No	ClinGen ExAC gnomAD
rs751796668 CA1252361	82	E>G		No	ClinGen ExAC gnomAD
rs1450548733 CA343815003	85	D>Y		No	ClinGen gnomAD
rs199921822 CA1252362	86	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1252363 rs767977974	87	S>L		No	ClinGen ExAC TOPMed gnomAD
rs767977974 CA343815032	87	S>W		No	ClinGen ExAC TOPMed gnomAD
CA343815046 rs1229524182	88	F>C		No	ClinGen gnomAD
CA1252364 rs750905912	88	F>L		No	ClinGen ExAC gnomAD
CA1252365 rs756575777	89	G>E		No	ClinGen ExAC gnomAD
rs1199965641 CA343815107	91	I>T		No	ClinGen gnomAD
CA343815134 rs1381412788	93	A>V		No	ClinGen gnomAD
CA343815146 rs1279528082	94	S>N		No	ClinGen gnomAD
TCGA novel	95	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356034512 CA343815166	95	Q>R		No	ClinGen TOPMed
rs1439478054 CA343815188	96	T>I		No	ClinGen TOPMed gnomAD
rs1202777674 CA343815211	97	N>K		No	ClinGen gnomAD
CA33088943 rs769494742	98	K>E		No	ClinGen Ensembl
TCGA novel	99	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343815261 rs1227974867	100	S>A		No	ClinGen TOPMed
CA1252368 rs752201698	104	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1184223337 CA343815382	105	L>S		No	ClinGen gnomAD
CA1252369 rs757882540	106	D>G		No	ClinGen ExAC TOPMed gnomAD
CA1252370 rs777443374	107	P>L		No	ClinGen ExAC TOPMed gnomAD
rs866225339 CA33088944	107	P>S		No	ClinGen Ensembl
CA343815461 rs1397585091	108	S>F		No	ClinGen TOPMed
CA343815512 rs1407842944	110	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1252372 rs757103612	110	T>P		No	ClinGen ExAC gnomAD
rs1553256504 CA343816241	111	E>V		No	ClinGen Ensembl
rs766958071 CA1252385	112	I>M		No	ClinGen ExAC
TCGA novel	113	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364172259 CA343816257	114	T>A		No	ClinGen gnomAD
CA1252387 rs574237832	115	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA1252388 rs574237832	115	P>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	116	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343816278 rs1332880617	117	P>L		No	ClinGen gnomAD
TCGA novel	119	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1252390 rs751228276	120	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA343816298 rs1230968830	121	G>C		No	ClinGen gnomAD
CA33090061 rs763867292	122	G>R		No	ClinGen Ensembl
rs867819196 CA33090063	125	E>*		No	ClinGen Ensembl
rs1558052111 CA343816322	125	E>V		No	ClinGen Ensembl
rs760151938 CA343816340	127	D>E		No	ClinGen ExAC gnomAD
rs1276112207 CA343816337	127	D>G		No	ClinGen TOPMed
CA1252392 rs780882858	128	S>G		No	ClinGen ExAC gnomAD
rs374978225 CA1252393	128	S>N		No	ClinGen ESP ExAC
CA343816350 rs1269403775	129	V>A		No	ClinGen gnomAD
CA1252394 rs755844529	129	V>I		No	ClinGen ExAC gnomAD
CA33090064 rs367685627	131	F>L		No	ClinGen ESP TOPMed
CA1252395 rs780102226	135	T>I		No	ClinGen ExAC
CA343816389 rs1220064454	135	T>S		No	ClinGen gnomAD
rs770360979 CA33090065	137	L>F		No	ClinGen Ensembl
rs541864254 CA1252396	139	C>S		No	ClinGen 1000Genomes ExAC gnomAD
CA343816425 rs1450928197 COSM1689228	140	M>I	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1252397 rs768866681	140	M>V		No	ClinGen ExAC gnomAD
rs1181439822 CA343816435	142	V>L		No	ClinGen gnomAD
rs1048001095 CA33090067	144	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA343816460 rs1164289432	146	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs201323511 CA1252400	146	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs201323511 CA1252399	146	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA33090068 rs201323511	146	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs757931524 CA343816468	147	N>K		No	ClinGen ExAC gnomAD
rs771196194 CA1252403	150	E>G		No	ClinGen ExAC gnomAD
CA1252402 rs761142548	150	E>Q		No	ClinGen ExAC
rs777182326 CA33090069	153	R>L		No	ClinGen ExAC gnomAD
CA1252404 rs777182326	153	R>Q		No	ClinGen ExAC gnomAD
rs1558052268 CA343816503	153	R>W		No	ClinGen Ensembl
rs1327999352 CA343816505	154	A>T		No	ClinGen TOPMed
CA33090070 rs867935652	156	A>T		No	ClinGen Ensembl
CA1252405 rs759981032	157	T>I		No	ClinGen ExAC gnomAD
rs763601212 CA1252406	158	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1571669852 CA343816538	159	K>Q		No	ClinGen Ensembl
CA1252407 rs751032263	159	K>T		No	ClinGen ExAC gnomAD
rs761398648 CA1252408	160	S>P		No	ClinGen ExAC gnomAD
rs200402801 CA343816570	163	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755991034 CA1252411	164	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs915579860 CA343816582	165	P>L		No	ClinGen TOPMed gnomAD
CA33090071 rs915579860	165	P>R		No	ClinGen TOPMed gnomAD
rs774012891 CA1252413	165	P>S		No	ClinGen ExAC TOPMed gnomAD
rs372332127 CA1252414	169	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1252415 rs564158260	171	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1471895956 CA343816640	175	V>I		No	ClinGen gnomAD
rs1389446324 CA343816656	177	E>G		No	ClinGen gnomAD
CA343816663 rs368590454	178	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs368590454 CA1252417	178	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1334923054 CA343816677	181	R>G		No	ClinGen TOPMed gnomAD
CA1252436 rs758563415	182	I>F		No	ClinGen ExAC TOPMed gnomAD
rs758563415 CA343816700	182	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1476072313 CA343816719	184	D>E		No	ClinGen TOPMed
TCGA novel	184	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1252437 rs368672299	185	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs200126832 CA343816726	185	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1252441 rs746283900	191	I>V		No	ClinGen ExAC gnomAD
rs893232811 CA33091046	193	S>P		No	ClinGen Ensembl
rs770116571 CA1252442	195	P>T		No	ClinGen ExAC TOPMed gnomAD
CA33091047 rs1012135820	196	I>T		No	ClinGen Ensembl
CA1252443 rs776198500	196	I>V		No	ClinGen ExAC TOPMed gnomAD
rs143661013 CA1252444	197	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1252445 rs771611825	198	K>E		No	ClinGen ExAC TOPMed gnomAD
CA343816821 rs1388581433	200	L>S		No	ClinGen gnomAD
CA1252447 rs760396421	201	F>L		No	ClinGen ExAC gnomAD
CA343816841 rs776390616	203	A>S		No	ClinGen ExAC gnomAD
rs776390616 CA1252449	203	A>T		No	ClinGen ExAC gnomAD
CA1252451 COSM899857 rs765110857	204	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs575173120 CA33091051	204	R>H		No	ClinGen 1000Genomes gnomAD
CA343816848 rs575173120	204	R>L		No	ClinGen 1000Genomes gnomAD
rs1341038786 CA343816868	207	D>V		No	ClinGen gnomAD
rs758204407 CA1252453	208	G>R	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1252454 rs537847739	209	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1219975232 CA343816882	210	T>A		No	ClinGen gnomAD
rs138264771 CA1252456	210	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1252455 rs138264771	210	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	211	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1317345974 CA343816891	211	E>D		No	ClinGen gnomAD
rs781437040 CA1252457	212	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1252458 rs557596672	212	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA343816900 rs1246351005	213	N>D		No	ClinGen gnomAD
CA1252459 rs756480765	213	N>S		No	ClinGen ExAC gnomAD
CA1252460 rs780327494	214	C>S		No	ClinGen ExAC gnomAD
CA33091052 rs908267609	219	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343816949 rs1163943305	220	S>G		No	ClinGen gnomAD
CA343816951 rs1350404679	220	S>N		No	ClinGen gnomAD
CA1252461 rs749830161	221	S>Y		No	ClinGen ExAC gnomAD
rs962475461 CA33091054	222	H>D		No	ClinGen gnomAD
TCGA novel	222	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1252462 rs768992873	224	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1007693513 CA343816980	225	E>*		No	ClinGen TOPMed gnomAD
rs1007693513 CA33091055	225	E>K		No	ClinGen TOPMed gnomAD
CA343816990 rs1299427479	226	E>G		No	ClinGen gnomAD
CA343817000 rs1364461854	227	F>L		No	ClinGen gnomAD
CA1252464 rs746539945	230	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	231	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA33091057 rs915737768	232	F>C		No	ClinGen Ensembl
rs1571735195 CA343817042	233	S>F		No	ClinGen Ensembl
CA1252466 rs776484062	236	I>V		No	ClinGen ExAC gnomAD
CA343817078 rs1342155473	238	E>D		No	ClinGen TOPMed
CA1252468 rs373653316	238	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371333673 CA1252467	238	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1252469 rs775110151	239	A>T		No	ClinGen ExAC gnomAD
CA343817095 rs1411186981	240	V>I		No	ClinGen gnomAD
rs1571776889 CA343817102	241	S>G		No	ClinGen Ensembl
TCGA novel rs1250614953 CA343817114	242	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA33091988 rs748137747	243	I>V		No	ClinGen Ensembl
TCGA novel	245	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1252490 rs553503400	248	C>R		No	ClinGen 1000Genomes ExAC gnomAD
rs767609155 CA1252491	249	T>I		No	ClinGen ExAC gnomAD
rs750466187 CA1252492	250	A>V		No	ClinGen ExAC gnomAD
rs148341321 CA1252493	252	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754078380 CA1252495	253	R>C		No	ClinGen ExAC gnomAD
CA1252496 rs377226119	253	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA33091989 rs377226119	253	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1252498 rs779270087	256	R>S		No	ClinGen ExAC gnomAD
rs758925376 CA1252499	261	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1305762392 CA343817259	264	S>L		No	ClinGen TOPMed
CA343817273 rs1433207021	266	I>M		No	ClinGen gnomAD
rs201387814 CA1252501	267	P>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs368432186 CA1252502	268	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA33091992 rs368432186	268	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA343817279 rs1571777112	268	T>P		No	ClinGen Ensembl
CA1252504 rs748961187	269	P>R		No	ClinGen ExAC TOPMed gnomAD
CA343817285 rs1571777157	269	P>S		No	ClinGen Ensembl
COSM899860 rs371240194 CA1252506	270	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs761773733 CA1252507	271	S>N		No	ClinGen ExAC gnomAD
CA343817314 rs1172765093	273	V>A		No	ClinGen gnomAD
rs7339904 VAR_052533 CA1252509	277	S>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1252510 rs143354894	277	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766477467 CA1252511	278	V>A		No	ClinGen ExAC gnomAD
CA1252513 rs759746426	281	E>*		No	ClinGen ExAC TOPMed gnomAD
rs375652492 CA33091994	282	V>A		No	ClinGen ESP
CA1252515 rs753069487	284	E>Q		No	ClinGen ExAC gnomAD
CA343817394 rs752096498	285	D>E		No	ClinGen ExAC gnomAD
CA1252517 rs778470256	285	D>G		No	ClinGen ExAC gnomAD
rs200430317 CA1252516	285	D>N		No	ClinGen ExAC gnomAD
CA343817398 rs1342655580	286	D>G		No	ClinGen gnomAD
rs530610651 CA33091995	286	D>N		No	ClinGen gnomAD
TCGA novel	286	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	287	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA33092192 rs866470871	292	S>R		No	ClinGen gnomAD
CA343817540 rs1558072588	293	P>S		No	ClinGen Ensembl
rs1424981366 CA343817555	295	P>L		No	ClinGen TOPMed
CA343817554 rs1248291957	295	P>S		No	ClinGen gnomAD
CA33092193 rs917512272	299	D>E		No	ClinGen TOPMed gnomAD
CA1252541 rs151025740	300	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
TCGA novel	304	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs949690902 CA33092194	304	K>R		No	ClinGen TOPMed gnomAD
CA343817642 rs1299033208	307	Q>K		No	ClinGen TOPMed gnomAD
CA33092196 rs865926350	309	I>M		No	ClinGen gnomAD
CA1252542 rs778597237	309	I>V		No	ClinGen ExAC gnomAD
rs1389680030 CA343817660	310	E>K		No	ClinGen gnomAD
TCGA novel	311	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331949575 CA343817686	313	V>F		No	ClinGen TOPMed gnomAD
CA343817684 rs1331949575	313	V>I		No	ClinGen TOPMed gnomAD
CA1252544 rs758195101	319	Q>R		No	ClinGen ExAC gnomAD
rs777486613 CA1252545	322	N>S		No	ClinGen ExAC gnomAD
rs746942412 CA1252546	323	K>E		No	ClinGen ExAC TOPMed gnomAD
rs770861365 CA1252547	324	E>D		No	ClinGen ExAC TOPMed gnomAD
rs776400169 CA1252548	326	A>P		No	ClinGen ExAC gnomAD
rs1196976188 CA343811399	329	R>S		No	ClinGen TOPMed gnomAD
CA343817793 rs1198435841	329	R>T		No	ClinGen gnomAD
CA343811431 rs1435037952	333	M>V		No	ClinGen gnomAD
CA343811475 rs1185992563	338	G>A		No	ClinGen TOPMed
CA1252568 rs781245488	339	R>*		No	ClinGen ExAC TOPMed gnomAD
CA343811479 rs1374812072	339	R>P		No	ClinGen gnomAD
CA343811478 rs1374812072	339	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343811489 rs1384597314	341	V>M		No	ClinGen TOPMed gnomAD
rs745786216 CA1252569	343	N>K		No	ClinGen ExAC
CA343811569 rs1236131070	350	D>N		No	ClinGen gnomAD
CA33094301 rs991310001	350	D>V		No	ClinGen Ensembl
rs917115410 CA33094302	351	M>T		No	ClinGen TOPMed gnomAD
CA343811581 rs1282879852	351	M>V		No	ClinGen gnomAD
TCGA novel	352	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752161555 CA1252583	354	M>T		No	ClinGen ExAC gnomAD
CA33094642 rs12724520	356	K>T		No	ClinGen Ensembl
rs1468998920 CA343812108	358	Y>H		No	ClinGen gnomAD
CA343812126 rs1350872385	360	G>E		No	ClinGen TOPMed
rs751157598 CA1252586	364	V>I		No	ClinGen ExAC gnomAD
COSM463443 CA1252587 rs533934955	366	T>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM273170 CA343812177 rs1427317164	368	M>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	372	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1252588 rs141892306	372	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA33094643 rs961824507	372	N>Y		No	ClinGen Ensembl
CA1252589 rs750383620	373	A>T		No	ClinGen ExAC gnomAD
CA33094644 rs973214933	379	L>F		No	ClinGen gnomAD
rs973214933 CA343812247	379	L>I		No	ClinGen gnomAD
CA33094645 rs12724656	380	N>H		No	ClinGen Ensembl
rs1440228956 CA343812262	381	E>G		No	ClinGen TOPMed gnomAD
rs768846007 CA1252593	381	E>K		No	ClinGen ExAC gnomAD
CA1252605 rs767362829	386	D>E		No	ClinGen ExAC gnomAD
CA1252606 rs750287112	391	M>R		No	ClinGen ExAC gnomAD
rs1417239767 CA343812367 COSM208095	394	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs966345572 CA33094880	395	V>A		No	ClinGen TOPMed
CA343812389 rs1350113720 CA343812388	397	M>I		No	ClinGen TOPMed gnomAD
rs766484367 CA1252608	397	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA343812397 rs1571889769	399	V>F		No	ClinGen Ensembl
rs1571889794 CA343812422	402	V>G		No	ClinGen Ensembl
TCGA novel	402	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1252612 rs748425420	403	V>A		No	ClinGen ExAC gnomAD
CA343812425 rs748425420	403	V>G		No	ClinGen ExAC gnomAD
rs778802482 CA1252611	403	V>L		No	ClinGen ExAC gnomAD
CA1252613 rs758509720	404	E>K		No	ClinGen ExAC gnomAD
rs747423706 CA1252615	405	P>S		No	ClinGen ExAC TOPMed gnomAD
CA1252616 rs771271038	407	R>C		No	ClinGen ExAC TOPMed gnomAD
rs777186772 CA343812449	407	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777186772 CA1252617	407	R>P		No	ClinGen ExAC TOPMed gnomAD
rs771271038 CA343812446	407	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1173387577 CA343812461	408	F>C		No	ClinGen TOPMed gnomAD
CA343812456 rs1413063760	408	F>L		No	ClinGen TOPMed gnomAD
CA1252621 rs148684223	411	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772990648 CA1252623	412	T>I		No	ClinGen ExAC TOPMed gnomAD
CA343812512 rs1281432880	413	V>I		No	ClinGen gnomAD
CA1252624 rs760616082 COSM899861	415	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1252625 rs534755457	415	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534755457 CA33094881	415	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1252626 rs753841210	418	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1252628 rs554357268	422	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs752761192 CA1252629	423	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1437833450 CA343812640	425	Y>H		No	ClinGen gnomAD
rs1206020561 CA343812667	427	S>N		No	ClinGen gnomAD
CA343812690 rs1244532104	429	K>R		No	ClinGen gnomAD
CA1252630 rs201532986	431	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs777914860 CA1252631	432	T>K		No	ClinGen ExAC gnomAD
CA33094883 rs985630000	434	T>A		No	ClinGen Ensembl
rs1455882085 CA343812761	435	F>Y		No	ClinGen gnomAD
rs757619084 CA1252633	438	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1558093659 CA343812829	440	K>R		No	ClinGen Ensembl
rs746392265 CA1252635	441	Q>R		No	ClinGen ExAC gnomAD
CA1252654 rs750789473	448	T>I		No	ClinGen ExAC gnomAD
rs1204228783 CA343815795	449	N>D		No	ClinGen gnomAD
rs142728115 CA1252655	449	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142728115 CA343815797	449	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343815804 rs1358660260	450	A>D		No	ClinGen TOPMed
rs771498803 CA1252658	452	D>N		No	ClinGen ExAC gnomAD
rs1385070243 CA343815830	454	I>T		No	ClinGen TOPMed
rs370068818 CA1252661	455	Y>N		No	ClinGen ESP ExAC gnomAD
rs776402572 CA1252662	456	E>D		No	ClinGen ExAC TOPMed gnomAD
CA343815853 rs1455811008	458	V>M		No	ClinGen gnomAD
CA1252663 rs759306328	461	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1383712305 CA343815879	462	R>*		No	ClinGen gnomAD
CA343815882 rs373960756	462	R>L		No	ClinGen ESP gnomAD
rs373960756 CA33097802	462	R>Q		No	ClinGen ESP gnomAD
CA1252664 rs769627638	463	E>G		No	ClinGen ExAC gnomAD
CA1252666 CA33097803 rs199975855	465	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA1252665 rs775292761	465	D>V		No	ClinGen ExAC gnomAD
rs377380635 CA1252667	468	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA33097804 rs929045775	470	V>I		No	ClinGen Ensembl
rs1353955355 CA343815943	472	P>S		No	ClinGen TOPMed
rs1288963482 CA343815948	473	T>A		No	ClinGen TOPMed
CA1252668 rs756865199	473	T>N		No	ClinGen ExAC gnomAD
rs983683662 CA33097805	474	S>T		No	ClinGen gnomAD
CA1252669 rs142260750	475	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	476	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358144723 CA343815966	476	G>R		No	ClinGen TOPMed
rs767788729 CA1252670	477	G>C		No	ClinGen ExAC gnomAD
CA343815977 rs1465727981	478	P>S		No	ClinGen gnomAD
CA1252672 rs770284796	479	M>L		No	ClinGen ExAC TOPMed gnomAD
rs770284796 CA1252671	479	M>V		No	ClinGen ExAC TOPMed gnomAD
CA1252673 rs780412797	480	S>T		No	ClinGen ExAC gnomAD
rs1181276747 CA343815998	481	P>L		No	ClinGen gnomAD
rs1417438578 CA343815995	481	P>T		No	ClinGen gnomAD
CA1252675 rs755501860	487	E>G		No	ClinGen ExAC gnomAD
CA343816045 rs1558116744	488	E>Q		No	ClinGen Ensembl
rs773324762 CA1252688	489	E>A		No	ClinGen ExAC gnomAD
rs1461469500 CA343815065	492	N>S		No	ClinGen gnomAD
CA1252689 rs760906466	495	S>L		No	ClinGen ExAC gnomAD
CA343815122 rs1218277016	497	G>A		No	ClinGen TOPMed
CA1252691 rs377531997	499	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1639621 CA343815163 rs377531997	499	G>V	stomach [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1252693 rs201974181	500	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	503	K>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1252694 rs753251095	504	D>N		No	ClinGen ExAC gnomAD
CA1252695 rs756830719	504	D>V		No	ClinGen ExAC gnomAD
CA1252696 rs780695079	506	P>L		No	ClinGen ExAC gnomAD
rs780256296 CA33105215	509	I>V		No	ClinGen Ensembl
CA343815343 rs1306269749	510	L>P		No	ClinGen gnomAD
CA33105216 rs370164900	511	Y>C		No	ClinGen TOPMed gnomAD
rs747877567 CA343815363	512	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1252697 rs747877567	512	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	514	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777347245 CA343815403	515	E>K		No	ClinGen gnomAD
rs777347245 CA33105217	515	E>Q		No	ClinGen gnomAD
CA343815152 rs1186969137	520	W>C		No	ClinGen gnomAD
rs758925445 CA1252712	521	H>Y		No	ClinGen ExAC gnomAD
rs766964292 CA1252713	522	S>T		No	ClinGen ExAC gnomAD
CA1252715 rs749985086	524	L>I		No	ClinGen ExAC gnomAD
rs749985086 CA1252714	524	L>V		No	ClinGen ExAC gnomAD
CA343815285 rs1418005961	525	G>A		No	ClinGen gnomAD
CA343815283 rs1418005961	525	G>D		No	ClinGen gnomAD
CA343815308 rs1462676250	527	R>*		No	ClinGen gnomAD
CA343815306 rs1462676250	527	R>G		No	ClinGen gnomAD
CA1252716 rs147972067	527	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA343815321 rs1571592746	528	P>A		No	ClinGen Ensembl
CA1252717 rs150517419	528	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA33107826 rs1037865983	529	K>Q		No	ClinGen TOPMed gnomAD
rs1196988398 CA343815342	529	K>R		No	ClinGen TOPMed gnomAD
rs1478163179 CA343815377	531	L>V		No	ClinGen TOPMed gnomAD
rs146229419 CA1252720	533	T>A		No	ClinGen ESP ExAC
rs772087877 CA1252721	533	T>I		No	ClinGen ExAC gnomAD
CA33107828 rs899294447	534	L>R		No	ClinGen TOPMed
rs371618472 CA1252723	534	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA33107829 rs993682486	538	G>A		No	ClinGen TOPMed
CA1252725 rs770912214	540	P>S		No	ClinGen ExAC gnomAD
CA1252727 rs367655060	544	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	545	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343815578 rs1558196364	547	V>A		No	ClinGen Ensembl
TCGA novel	548	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343815598 rs1571593040	550	L>V		No	ClinGen Ensembl
CA343815607 rs1571593067	551	L>W		No	ClinGen Ensembl
rs1558196375 CA343815621	553	G>A		No	ClinGen Ensembl
rs1187200114 CA527385289	554	C>K		No	ClinGen gnomAD
CA343815626 rs1490772058	554	C>Y		No	ClinGen TOPMed
rs770304146 CA1252728	555	H>R		No	ClinGen ExAC gnomAD
CA343815642 rs1266283364	556	D>G		No	ClinGen TOPMed
CA343815658 rs1475921877	558	Q>R		No	ClinGen TOPMed gnomAD
CA1252729 rs775955815	559	A>T		No	ClinGen ExAC gnomAD
CA343815668 rs1305839018	560	M>V		No	ClinGen TOPMed
rs1419361939 CA343815680	561	L>R		No	ClinGen gnomAD
CA1252731 rs764707300	562	D>G		No	ClinGen ExAC gnomAD
rs201615958 CA1252730	562	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA343815687 rs1433375372	563	R>G		No	ClinGen gnomAD
CA1252734 rs201455300	564	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs760239417 CA1252733	564	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs753515110 CA1252735 COSM677045	565	R>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1252736 rs371880631	565	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778507376 CA1252737	567	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA343815719 rs1311157516	568	I>T		No	ClinGen gnomAD
rs764078195 CA1252738	569	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1572633794 CA343823025	573	A>V		No	ClinGen Ensembl
CA33137007 rs759066263	574	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA343823039 rs1379515492	575	E>D		No	ClinGen gnomAD
rs1557936068 CA343823033	575	E>Q		No	ClinGen Ensembl
CA1252980 rs769393441	576	S>N		No	ClinGen ExAC gnomAD
CA1252981 rs775201642	578	I>T		No	ClinGen ExAC gnomAD
rs762657559 CA1252982	579	T>I		No	ClinGen ExAC
CA343823066 rs1264169815 COSM899870	580	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs763920780 CA1252983	582	I>S		No	ClinGen ExAC TOPMed gnomAD
COSM1689231 rs751561117 CA1252984	584	R>C	Variant assessed as Somatic; 0.0001848 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA33137009 rs1032758044	584	R>H		No	ClinGen Ensembl
rs1423173524 CA343823101	585	T>I		No	ClinGen gnomAD
rs1423173524 CA343823100	585	T>R		No	ClinGen gnomAD
TCGA novel	587	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1252986 rs766060727 COSM241344	588	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA343823121 rs1324136922	589	H>N		No	ClinGen gnomAD
CA33137010 rs865948279	590	D>N		No	ClinGen Ensembl
rs865948279 CA343823130	590	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA343823154 rs1397576351	593	K>E		No	ClinGen TOPMed gnomAD
rs1297116082 CA343823158	593	K>N		No	ClinGen gnomAD
rs756204040 CA1252988	594	D>G		No	ClinGen ExAC gnomAD
CA343823171 rs1432523214	595	T>S		No	ClinGen gnomAD
TCGA novel	596	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272248324 CA343823185	598	D>N		No	ClinGen TOPMed gnomAD
CA343823190 rs1299444758	598	D>V		No	ClinGen TOPMed
rs1228195699 CA343823220	602	S>L		No	ClinGen gnomAD
CA343823224 rs1362297619	603	L>F		No	ClinGen gnomAD
CA1252993 rs748485193	604	Y>C		No	ClinGen ExAC gnomAD
CA1252992 rs779209327	604	Y>H		No	ClinGen ExAC gnomAD
rs571723703 CA343823280	606	I>M		No	ClinGen 1000Genomes gnomAD
rs1572634044 CA343823268	606	I>V		No	ClinGen Ensembl
CA343823306 rs1389060405	608	K>E		No	ClinGen TOPMed
rs1335271019 CA343820947	610	Y>C		No	ClinGen gnomAD
rs1335271019 CA343820945	610	Y>S		No	ClinGen gnomAD
CA343820976 rs1336936865	614	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA343820975 rs1309193172	614	D>V		No	ClinGen gnomAD
rs779573319 CA1253018	615	E>D		No	ClinGen ExAC gnomAD
rs1273196964 CA343820981	615	E>G		No	ClinGen gnomAD
CA1253017 rs145274426	615	E>K		No	ClinGen ESP ExAC gnomAD
rs1204574881 CA343821004	618	G>V		No	ClinGen gnomAD
CA343821009 rs1379578407	619	Y>C		No	ClinGen gnomAD
rs1473933267 CA343821007	619	Y>N		No	ClinGen TOPMed
rs1456287143 CA343821022	621	Q>*		No	ClinGen gnomAD
rs935943966 CA33142488	621	Q>L		No	ClinGen TOPMed
rs1197840692 CA343821031	622	G>E		No	ClinGen gnomAD
CA1253021 rs768472391	623	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs748022098 CA1253022	625	F>L		No	ClinGen ExAC TOPMed gnomAD
CA1253023 rs771936937	626	L>F		No	ClinGen ExAC gnomAD
CA1253024 rs773048331	629	V>I		No	ClinGen ExAC gnomAD
rs947691582 CA33142489	633	H>R		No	ClinGen TOPMed
rs759619469 CA1253047	634	M>T		No	ClinGen ExAC gnomAD
rs1264783736 CA343821939	634	M>V		No	ClinGen gnomAD
CA1253048 rs765239926	639	A>G		No	ClinGen ExAC TOPMed gnomAD
CA343821980 rs765239926	639	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	640	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343822000 rs1466019648	642	V>A		No	ClinGen TOPMed
rs763117288 CA1253050	642	V>I		No	ClinGen ExAC gnomAD
CA343822005 rs1186774851	643	L>S		No	ClinGen gnomAD
CA343822028 rs1262789343	646	I>S		No	ClinGen gnomAD
CA343822024 rs1378313509	646	I>V		No	ClinGen TOPMed gnomAD
rs898711430 CA33144156	647	M>L		No	ClinGen TOPMed gnomAD
rs898711430 CA33144155	647	M>V		No	ClinGen TOPMed gnomAD
CA343822038 rs1185950720	648	Y>H		No	ClinGen TOPMed gnomAD
CA343822046 COSM233227 rs1572849800	649	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs912079932 COSM1601264 CA33144157	650	Y>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs757548416 CA343822060	651	G>R		No	ClinGen ExAC TOPMed gnomAD
rs757548416 CA1253053	651	G>S		No	ClinGen ExAC TOPMed gnomAD
CA343822088 rs1289679767	655	L>V		No	ClinGen gnomAD
rs1008429556 CA33144158	656	Y>C		No	ClinGen TOPMed gnomAD
CA343822102 rs1572849854	657	R>K		No	ClinGen Ensembl
rs750892098 CA1253055	659	N>S	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750892098 CA343822118	659	N>T		No	ClinGen ExAC TOPMed gnomAD
CA343822134 rs1283213963	661	E>G		No	ClinGen gnomAD
CA343822130 rs1248110639	661	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs778527672 CA1253057	662	D>Y		No	ClinGen ExAC gnomAD
rs1557996318 CA343822214	672	R>G		No	ClinGen Ensembl
rs758119279 CA1253059	672	R>I		No	ClinGen ExAC gnomAD
CA343822227 rs1180456507	674	M>V		No	ClinGen gnomAD
rs1048294992 CA33144159	675	Q>R		No	ClinGen Ensembl
rs1320706866 CA343822312	679	P>A		No	ClinGen TOPMed
CA1253077 rs559718707	679	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343822313 rs1320706866	679	P>S		No	ClinGen TOPMed
rs147255156 CA1253079	682	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1253078 rs777489407	682	H>R		No	ClinGen ExAC TOPMed gnomAD
CA1253080 rs757100889	683	S>N		No	ClinGen ExAC gnomAD
CA343822347 rs1185572340	684	H>L		No	ClinGen TOPMed
TCGA novel	686	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343822367 rs1198865634	687	D>G		No	ClinGen gnomAD
rs780920670 CA1253081	687	D>Y		No	ClinGen ExAC gnomAD
CA1253082 rs745628502	688	L>M		No	ClinGen ExAC gnomAD
rs1168209390 CA343822377	689	N>Y		No	ClinGen TOPMed gnomAD
rs1193663322 CA343822407	693	H>L		No	ClinGen TOPMed
rs528733154 CA1253084	693	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	698	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172457633 CA343822461	700	F>C		No	ClinGen gnomAD
CA343822471 rs1337034635	702	T>A		No	ClinGen TOPMed
rs1403792900 CA343822475	702	T>I		No	ClinGen gnomAD
rs1303276048 CA343822476	703	L>I		No	ClinGen gnomAD
rs1303276048 CA343822477	703	L>V		No	ClinGen gnomAD
CA1253086 rs749434385	706	A>V		No	ClinGen ExAC gnomAD
rs1197442207 CA343822513	708	F>C		No	ClinGen gnomAD
CA343822522 rs1290684476	709	P>L		No	ClinGen TOPMed
rs1272245610 CA343822541	712	M>I		No	ClinGen TOPMed
CA1253088 rs774645956	712	M>T		No	ClinGen ExAC gnomAD
rs768551330 CA1253087	712	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1436231277 CA343822548	713	V>A		No	ClinGen TOPMed
CA1253089 rs761901681	716	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1253090 rs201949597	717	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA343822573 rs1358011506	717	I>V		No	ClinGen TOPMed gnomAD
rs1292617611 CA343822582	718	D>G		No	ClinGen gnomAD
CA343822591 rs1490890309	719	L>F		No	ClinGen gnomAD
CA1253091 rs773763849	721	L>R		No	ClinGen ExAC gnomAD
CA1253092 rs761109104	723	E>G		No	ClinGen ExAC gnomAD
TCGA novel	724	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343820826 rs1180076289	724	G>S		No	ClinGen TOPMed
TCGA novel	727	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343820881 rs1320641878	731	V>A		No	ClinGen gnomAD
CA343820883 rs1404365144	732	A>T		No	ClinGen gnomAD
CA1253114 rs773780634	734	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1173271171 CA343821265	743	L>F		No	ClinGen TOPMed
rs757598927 CA1253146	746	A>D		No	ClinGen ExAC gnomAD
CA1253147 rs781459042	747	D>A		No	ClinGen ExAC gnomAD
CA343821315 rs1182298725	747	D>H		No	ClinGen gnomAD
CA343821385 rs1167049316	751	A>G		No	ClinGen gnomAD
CA343821386 rs1167049316	751	A>V		No	ClinGen gnomAD
TCGA novel	752	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780436959 CA1253150	753	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1253152 rs771600459	756	R>G		No	ClinGen ExAC gnomAD
CA343821478 rs1450288055	758	Q>H		No	ClinGen gnomAD
rs772758392 CA1253153	768	N>I		No	ClinGen ExAC gnomAD
rs368502977 CA33156217	770	R>G		No	ClinGen ESP TOPMed
CA343821665 rs1179044845	773	M>L		No	ClinGen TOPMed
CA343821691 rs1239363186	774	E>G		No	ClinGen gnomAD
rs199639499 CA1253156	775	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs770558370 CA1253155	775	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA343821720 rs1202240861	776	A>P		No	ClinGen TOPMed gnomAD
rs1202240861 CA343821721	776	A>S		No	ClinGen TOPMed gnomAD
CA343821719 rs1202240861	776	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	777	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243034647 CA343821750	778	N>K		No	ClinGen gnomAD
rs199733197 CA1253158	779	I>S		No	ClinGen ExAC TOPMed
CA1253157 rs759265408	779	I>V		No	ClinGen ExAC gnomAD
rs1183624007 CA343821762	780	K>Q		No	ClinGen gnomAD
CA33171537 rs921965400	781	V>I		No	ClinGen Ensembl
rs1408245470 CA343822636	782	P>A		No	ClinGen gnomAD
CA1253232 rs369879598	783	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369879598 CA1253231	783	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA343822655 rs1411935831	785	K>T		No	ClinGen gnomAD
rs1229573941 CA343822682	789	Y>H		No	ClinGen TOPMed
rs747979927 CA1253235	792	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1257688714 CA343822726	794	Q>H		No	ClinGen gnomAD
CA343822733 rs1558281122	795	T>I		No	ClinGen Ensembl
rs891639173 CA33171538	796	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs954694024 CA33171539	797	R>Q		No	ClinGen gnomAD
CA343822749 rs1367059738	798	E>A		No	ClinGen TOPMed
rs746883193 CA1253238	800	Q>H		No	ClinGen ExAC gnomAD
rs777790086 CA1253237	800	Q>R		No	ClinGen ExAC gnomAD
CA1253240 rs776744487	802	Q>*		No	ClinGen ExAC
CA33171541 rs201224754	806	P>S		No	ClinGen 1000Genomes
TCGA novel	807	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1253241 rs759602975	807	M>T		No	ClinGen ExAC gnomAD
rs1267806057 CA343822810	807	M>V		No	ClinGen TOPMed gnomAD
rs1413912284 CA343822861	812	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	813	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1253295 rs749367277	813	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1359741862 CA343822878	814	Y>C		No	ClinGen gnomAD
TCGA novel	814	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1253297 rs774629383	816	L>W		No	ClinGen ExAC TOPMed gnomAD

2 associated diseases with Q5R372

[MIM: 601626]: Leukemia, acute myelogenous (AML)

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:19184099}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Without disease ID

A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:19184099}. Note=The gene represented in this entry may be involved in disease pathogenesis.

2 regional properties for Q5R372

Type	Name	Position	InterPro Accession
domain	SWIB/MDM2 domain	201 - 278	IPR003121
domain	SWIB domain	202 - 281	IPR019835

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle Early endosome Golgi apparatus	Colocalizes on endosomes partially with EEA1 (PubMed:16923123) Colocalizes and cotransports on motile vesicles with ANK2 (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 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.
small GTPase binding	Binding to a small monomeric GTPase.

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.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of protein localization	Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6DHY5	TBC1D3G	TBC1 domain family member 3G	Homo sapiens (Human)	PR
A0A087WVF3	TBC1D3D	TBC1 domain family member 3D	Homo sapiens (Human)	PR
A0A087WXS9	TBC1D3I	TBC1 domain family member 3I	Homo sapiens (Human)	PR
B9A6J9	TBC1D3L	TBC1 domain family member 3L	Homo sapiens (Human)	PR
Q8IZP1	TBC1D3	TBC1 domain family member 3	Homo sapiens (Human)	PR
A6NER0	TBC1D3F	TBC1 domain family member 3F	Homo sapiens (Human)	PR
P0C7X1	TBC1D3H	TBC1 domain family member 3H	Homo sapiens (Human)	PR
A0A087X179	TBC1D3E	TBC1 domain family member 3E	Homo sapiens (Human)	PR
A0A087X1G2	TBC1D3K	TBC1 domain family member 3K	Homo sapiens (Human)	PR
A6NDS4	TBC1D3B	TBC1 domain family member 3B	Homo sapiens (Human)	PR
Q80XC3	Usp6nl	USP6 N-terminal-like protein	Mus musculus (Mouse)	PR
A6H6A9	Rabgap1l	Rab GTPase-activating protein 1-like	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEVRASLQKV	SGSSDSVATM	NSEEFVLVPQ	YADDNSTKHE	EKPQLKIVSN	GDEQLEKAME
70	80	90	100	110	120
EILRDSEKRP	SSLLVDCQSS	SEISDHSFGD	IPASQTNKPS	LQLILDPSNT	EISTPRPSSP
130	140	150	160	170	180
GGLPEEDSVL	FNKLTYLGCM	KVSSPRNEVE	ALRAMATMKS	SSQYPFPVTL	YVPNVPEGSV
190	200	210	220	230	240
RIIDQSSNVE	IASFPIYKVL	FCARGHDGTT	ESNCFAFTES	SHGSEEFQIH	VFSCEIKEAV
250	260	270	280	290	300
SRILYSFCTA	FKRSSRQVSD	VKDSVIPTPD	SDVFTFSVSL	EVKEDDGKGN	FSPVPKDRDK
310	320	330	340	350	360
FYFKLKQGIE	KKVVITVQQL	SNKELAIERC	FGMLLSPGRN	VKNSDMHLLD	MESMGKSYDG
370	380	390	400	410	420
RAYVITGMWN	PNAPVFLALN	EETPKDKQVY	MTVAVDMVVT	EVVEPVRFLL	ETVVRVYPAN
430	440	450	460	470	480
ERFWYFSRKT	FTETFFMRLK	QSEGKGHTNA	GDAIYEVVSL	QRESDKEEPV	TPTSGGGPMS
490	500	510	520	530	540
PQDDEAEEES	DNELSSGTGD	VSKDCPEKIL	YSWGELLGKW	HSNLGARPKG	LSTLVKSGVP
550	560	570	580	590	600
EALRAEVWQL	LAGCHDNQAM	LDRYRILITK	DSAQESVITR	DIHRTFPAHD	YFKDTGGDGQ
610	620	630	640	650	660
ESLYKICKAY	SVYDEDIGYC	QGQSFLAAVL	LLHMPEEQAF	CVLVKIMYDY	GLRDLYRNNF
670	680	690	700	710	720
EDLHCKFYQL	ERLMQEQLPD	LHSHFSDLNL	EAHMYASQWF	LTLFTAKFPL	CMVFHIIDLL
730	740	750	760	770	780
LCEGLNIIFH	VALALLKTSK	EDLLQADFEG	ALKFFRVQLP	KRYRAEENAR	RLMEQACNIK
790	800	810
VPTKKLKKYE	KEYQTMRESQ	LQQEDPMDRY	KFVYL