AiPD: Autoinhibited Protein Database

O60447

Gene name	EVI5 (NB4S)
Protein name	Ecotropic viral integration site 5 protein homolog
Names	EVI-5, Neuroblastoma stage 4S gene protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7813
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-155 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-155 (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 O60447

Entry ID	Method	Resolution	Chain	Position	Source
AF-O60447-F1	Predicted				AlphaFoldDB

632 variants for O60447

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs199683067 CA27125846	3	T>I		No	ClinGen gnomAD
CA952236 CA952237 rs370949072	4	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs760175117 CA952235	6	M>I		No	ClinGen ExAC gnomAD
rs570242950 CA27125845	6	M>T		No	ClinGen TOPMed gnomAD
rs973199373 CA27125844	8	A>P		No	ClinGen Ensembl
rs200698902 CA27125843	8	A>V		No	ClinGen Ensembl
rs1426541669 CA341360917	12	N>D		No	ClinGen TOPMed
CA341360912 rs1295563747	12	N>K		No	ClinGen gnomAD
CA27125841 rs963529741	14	S>N		No	ClinGen Ensembl
rs1156287083 CA341360892	15	G>E		No	ClinGen TOPMed
CA952214 rs766080106	18	V>M		No	ClinGen ExAC gnomAD
CA27119413 rs1011800879	19	A>V		No	ClinGen TOPMed gnomAD
rs780400268 CA952212	21	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	21	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs111391388 CA27119412	24	A>T		No	ClinGen Ensembl
rs200960548 CA952210	24	A>V		No	ClinGen ExAC
rs746369084 CA952209	25	E>*		No	ClinGen ExAC
rs564969789 CA341356060	26	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1040281487 CA27119411	30	T>A		No	ClinGen TOPMed
CA341356036 rs1406838242	30	T>I		No	ClinGen Ensembl
rs199499708 CA341356034	31	L>F		No	ClinGen TOPMed gnomAD
rs199499708 CA27119410	31	L>V		No	ClinGen TOPMed gnomAD
rs763304851 CA952205	32	S>L		No	ClinGen ExAC gnomAD
CA27119408 rs959079849	34	V>M		No	ClinGen Ensembl
CA27119407 rs1016038277	35	K>R		No	ClinGen Ensembl
rs1184384647 CA341355999	36	N>I		No	ClinGen gnomAD
TCGA novel	36	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483433781 CA341355995	37	T>A		No	ClinGen TOPMed gnomAD
CA341355985 rs1271868427	38	V>G		No	ClinGen TOPMed
rs1256957085 CA341355979	39	S>L		No	ClinGen TOPMed gnomAD
rs1256957085 CA341355980	39	S>W		No	ClinGen TOPMed gnomAD
rs1314232194 CA341355965	41	T>I		No	ClinGen gnomAD
rs1291263051 CA341355916	44	Q>R		No	ClinGen gnomAD
rs776962871 CA952199	46	A>S		No	ClinGen ExAC gnomAD
CA952198 rs373062363	47	S>N		No	ClinGen ESP ExAC gnomAD
CA952197 rs747245624	51	S>G		No	ClinGen ExAC gnomAD
CA341355782 rs1558173909	52	P>A		No	ClinGen Ensembl
CA952194 rs531317715	54	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA341355763 rs1455468568	54	T>I		No	ClinGen gnomAD
rs1337915797 CA341355720	57	H>R		No	ClinGen TOPMed gnomAD
CA341355696 rs1274330395	58	T>I		No	ClinGen gnomAD
rs756848081 CA952189	59	T>I		No	ClinGen ExAC TOPMed gnomAD
CA341355671 rs1484325944	60	S>C		No	ClinGen TOPMed gnomAD
CA341355680 rs1180249988	60	S>T		No	ClinGen gnomAD
TCGA novel	62	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	65	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199788595 CA952187	68	P>T		No	ClinGen ExAC TOPMed gnomAD
rs762583443 CA952186	69	A>D		No	ClinGen ExAC gnomAD
rs762583443 CA341355544	69	A>G		No	ClinGen ExAC gnomAD
CA952185 rs775838594	70	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1558173560 CA341355504	72	P>S		No	ClinGen Ensembl
rs142892400 CA952184	73	S>F		No	ClinGen ESP ExAC gnomAD
rs368752577 CA952183	75	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201270738 CA952182	76	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1432509563 CA341355457	76	S>P		No	ClinGen gnomAD
rs1460844854 CA341355421	78	L>F		No	ClinGen TOPMed gnomAD
CA952181 rs542278414	78	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747229137 CA341355354	81	D>E		No	ClinGen ExAC TOPMed gnomAD
CA952179 rs773623075 COSM913335	82	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA27119403 VAR_047753 rs1064580	82	D>V		No	ClinGen UniProt Ensembl dbSNP
rs748294903 CA952177	88	K>R		No	ClinGen ExAC TOPMed gnomAD
CA27119401 rs992439958	90	E>Q		No	ClinGen TOPMed gnomAD
rs200441654 CA952176	92	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1250287821 CA341355208	93	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA952162 rs375340300	98	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489130472 CA341353771	100	S>I		No	ClinGen TOPMed gnomAD
rs1489130472 CA341353773	100	S>N		No	ClinGen TOPMed gnomAD
CA27115752 rs909361099	101	K>T		No	ClinGen TOPMed
CA27115751 rs994877113	103	L>S		No	ClinGen Ensembl
CA952160 rs761966950	105	S>C		No	ClinGen ExAC gnomAD
CA341353737 rs1392894191	106	V>I		No	ClinGen gnomAD
CA341353711 rs1274947986	110	R>G		No	ClinGen gnomAD
rs768626947 CA952158	114	G>A		No	ClinGen ExAC gnomAD
CA27115750 rs1036410848	114	G>S		No	ClinGen TOPMed gnomAD
rs201824598 CA27115749	118	V>A		No	ClinGen TOPMed
rs201333917 CA27115747	120	S>R		No	ClinGen Ensembl
rs1570467837 CA341353634	122	S>P		No	ClinGen Ensembl
rs1387276816 CA341353626	123	A>D		No	ClinGen gnomAD
rs1558111993 CA341353617	125	S>R		No	ClinGen Ensembl
rs1307440475 CA341353594	128	S>G		No	ClinGen TOPMed gnomAD
rs770690859 CA952155	130	L>P		No	ClinGen ExAC gnomAD
CA952154 rs746848164	134	S>F		No	ClinGen ExAC gnomAD
CA341353525 rs1376276232	137	L>P		No	ClinGen gnomAD
rs372087232 CA27115744	138	W>*		No	ClinGen ESP
rs777462382 CA952153	139	G>E		No	ClinGen ExAC gnomAD
TCGA novel	140	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434201146 CA341353492	142	V>D		No	ClinGen gnomAD
rs778481795 CA952150	146	E>G		No	ClinGen ExAC gnomAD
CA341353454 rs1201700179	147	D>G		No	ClinGen gnomAD
CA341353450 rs1251970589	148	V>I		No	ClinGen gnomAD
rs200740554 CA952149	149	R>C		No	ClinGen ExAC TOPMed gnomAD
CA952148 rs557147837	149	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341353444 rs200740554	149	R>S		No	ClinGen ExAC TOPMed gnomAD
rs769582606 CA27115743	150	K>R		No	ClinGen gnomAD
TCGA novel	152	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA952147 rs767028958	153	E>G		No	ClinGen ExAC gnomAD
TCGA novel	156	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341353393 rs1311135523	156	V>I		No	ClinGen TOPMed
CA952129 CA341353342 rs779730699	161	H>Q		No	ClinGen ExAC gnomAD
CA341353346 rs1158175792	161	H>Y		No	ClinGen TOPMed
CA952128 rs756634676	162	K>E		No	ClinGen ExAC gnomAD
CA27115649 rs927667778	166	H>R		No	ClinGen Ensembl
rs981895307 CA27115648	168	F>L		No	ClinGen Ensembl
CA952126 rs767924973	175	L>F		No	ClinGen ExAC
rs757624096 CA952125	177	C>Y		No	ClinGen ExAC gnomAD
rs1162059378 CA341353229	178	S>C		No	ClinGen gnomAD
rs751785118 CA952124	179	A>S		No	ClinGen ExAC gnomAD
CA952122 rs140165223	181	S>I	Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs140165223 CA952123	181	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs775500464 CA952121	182	M>K		No	ClinGen ExAC gnomAD
rs200417120 CA952120	184	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341353181 rs1465238441	185	K>R		No	ClinGen gnomAD
CA341353174 rs773081130	186	D>G		No	ClinGen ExAC gnomAD
rs760656036 CA952119	186	D>N		No	ClinGen ExAC gnomAD
CA952118 rs773081130	186	D>V		No	ClinGen ExAC gnomAD
rs1286069733 CA341353165	187	Q>L		No	ClinGen gnomAD
rs202133693 CA27115645	190	E>*		No	ClinGen Ensembl
CA952116 rs771877448	195	T>A		No	ClinGen ExAC gnomAD
CA341353111 rs1437736249	195	T>N		No	ClinGen gnomAD
rs530988673 CA952115	196	S>L		No	ClinGen ExAC TOPMed gnomAD
CA952114 rs141479784	199	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA341353069 rs1404132633	201	L>F		No	ClinGen TOPMed gnomAD
rs768372318 CA341353059	203	R>*		No	ClinGen ExAC TOPMed
COSM913332 rs748958686 CA952112	203	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1163390250 CA341353056	204	R>G		No	ClinGen gnomAD
rs1253898097 CA341353049	205	D>N		No	ClinGen TOPMed
rs779647149 CA952111	206	I>F		No	ClinGen ExAC gnomAD
rs201146671 CA952110	206	I>S		No	ClinGen 1000Genomes ExAC gnomAD
rs201206544 CA27115644	207	A>D		No	ClinGen ExAC gnomAD
rs201206544 CA952109	207	A>G		No	ClinGen ExAC gnomAD
CA341353034 rs1570460016	207	A>S		No	ClinGen Ensembl
rs1449871725 CA341353020	209	T>I		No	ClinGen gnomAD
CA952107 rs757612026	214	N>S		No	ClinGen ExAC gnomAD
rs1453325274	216	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	217	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA952106 rs751830849	217	K>N		No	ClinGen ExAC gnomAD
TCGA novel	220	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341352932 rs1276655903	221	S>N		No	ClinGen TOPMed gnomAD
COSM426838 CA952104 rs758559681	221	S>R	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1231013638 CA341352901	225	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA341352898 rs1440013567	226	V>F		No	ClinGen TOPMed gnomAD
CA952102 rs765285132	231	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA27115640 rs202035360	231	M>L		No	ClinGen Ensembl
CA341352837 rs752893341	233	A>S		No	ClinGen ExAC gnomAD
COSM1344930 CA952082 rs752893341	233	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs886149591 CA27115530	235	S>C		No	ClinGen TOPMed gnomAD
rs1281137428 CA341352817	236	L>S		No	ClinGen TOPMed
CA27115529 rs1026491309	237	V>L		No	ClinGen Ensembl
CA952081 rs200157317	239	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs551991133 CA952079	239	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA952080 rs551991133	239	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA952078 rs766491719	240	E>D		No	ClinGen ExAC gnomAD
CA952077 rs570209986	241	V>F		No	ClinGen ExAC gnomAD
rs1233895761 CA341352772	243	Y>*		No	ClinGen TOPMed
CA952076 rs537011038	245	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA341352758 rs1426742449	245	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	248	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341352739 rs1480869157	248	A>V		No	ClinGen TOPMed
CA952074 rs763970215	252	G>V		No	ClinGen ExAC gnomAD
rs1172995268 CA341352698	254	L>F		No	ClinGen TOPMed
CA952056 rs150110976	259	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA952054 rs200747400	262	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA27115115 rs200747400	262	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA27115113 rs758307239	263	A>P		No	ClinGen TOPMed
CA27115114 rs758307239	263	A>T		No	ClinGen TOPMed
CA341352607 rs1227622799	265	C>W		No	ClinGen TOPMed
CA952051 rs765095711	265	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA952049 rs776401198	274	Y>C		No	ClinGen ExAC gnomAD
rs1558096700 CA341352538	275	R>G		No	ClinGen Ensembl
TCGA novel	275	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1570424082 CA341352534	275	R>S		No	ClinGen Ensembl
CA952047 rs760218162	276	L>F		No	ClinGen ExAC gnomAD
CA341352525 rs1296529806 COSM913331	277	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA952046 rs772739890	277	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA341352522 rs1213680043	278	E>K		No	ClinGen TOPMed
CA341352506 rs1274325970	280	F>V		No	ClinGen TOPMed
rs748663316 CA952044	282	P>T		No	ClinGen ExAC TOPMed gnomAD
CA27115112 rs199743871	283	S>G		No	ClinGen Ensembl
CA952042 rs568366871	284	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA952041 rs749459969	285	A>V		No	ClinGen ExAC TOPMed gnomAD
CA341352450 rs1288944951	288	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA27115111 rs201620518	289	L>P		No	ClinGen Ensembl
CA952040 rs376957323	289	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs756234245 CA952039	290	C>Y		No	ClinGen ExAC gnomAD
rs200535224 CA952038	291	M>I		No	ClinGen ExAC TOPMed gnomAD
CA952037 rs781444194	293	Q>R		No	ClinGen ExAC gnomAD
rs199610267 CA952036	294	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA341352406 rs1187587560	294	F>L		No	ClinGen gnomAD
rs567174824 CA27115110	295	E>*		No	ClinGen ExAC TOPMed gnomAD
rs567174824 CA952035	295	E>K		No	ClinGen ExAC TOPMed gnomAD
rs974110148 CA27115108	296	C>S		No	ClinGen Ensembl
CA952034 rs764939313	298	I>L		No	ClinGen ExAC gnomAD
CA952033 rs201420703	299	Q>R		No	ClinGen ExAC gnomAD
rs1368496384 CA341352352	300	E>D		No	ClinGen TOPMed
CA27114890 rs957693186	300	E>Q		No	ClinGen Ensembl
rs757481722 CA27114889	301	H>L		No	ClinGen ExAC gnomAD
rs757481722 CA952018	301	H>R		No	ClinGen ExAC gnomAD
CA341352343 rs1446102688	302	L>F		No	ClinGen TOPMed
CA952017 rs201771445	303	P>L		No	ClinGen ExAC gnomAD
rs201771445 CA27114887	303	P>R		No	ClinGen ExAC gnomAD
rs1001750228 CA27114888	303	P>S		No	ClinGen TOPMed gnomAD
rs1420688587 CA341352327	305	L>V		No	ClinGen TOPMed
CA952015 rs754902394	307	V>A		No	ClinGen ExAC gnomAD
rs766170122 CA952013	308	H>R		No	ClinGen ExAC gnomAD
rs200887719 CA952014	308	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs766997974 CA341352252	315	H>Q		No	ClinGen ExAC gnomAD
CA952011 rs750139504	315	H>Y		No	ClinGen ExAC gnomAD
rs1570407989 CA341352245	316	T>I		No	ClinGen Ensembl
CA952009 rs367754544	318	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1299055725 CA341352237	318	M>V		No	ClinGen TOPMed gnomAD
rs201908785 CA27114886	319	Y>C		No	ClinGen TOPMed gnomAD
rs774693301 CA952008	320	A>S		No	ClinGen ExAC gnomAD
rs1481084457 CA341352208	322	S>C		No	ClinGen gnomAD
rs764626545 CA952006	323	W>*		No	ClinGen ExAC gnomAD
rs1179397141 CA341352203	323	W>*		No	ClinGen TOPMed gnomAD
rs763396717 CA952005	324	F>L		No	ClinGen ExAC gnomAD
CA952003 rs770287792	327	I>V		No	ClinGen ExAC TOPMed gnomAD
CA341352160 rs1239515584	330	T>A		No	ClinGen TOPMed
rs759835116 CA952002	331	T>A		No	ClinGen ExAC TOPMed gnomAD
rs200758588 CA952001	331	T>I		No	ClinGen ExAC TOPMed gnomAD
rs200758588 CA341352151	331	T>S		No	ClinGen ExAC TOPMed gnomAD
CA27114885 rs199967944	332	F>V		No	ClinGen Ensembl
rs771101253 CA952000	333	P>A		No	ClinGen ExAC gnomAD
rs747070594 CA341352133	335	P>A		No	ClinGen ExAC gnomAD
CA951999 rs747070594	335	P>T		No	ClinGen ExAC gnomAD
rs2391199 CA341352127	336	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341352128 rs2391199	336	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_028890 CA951998 rs2391199 RCV000454998	336	I>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA951997 rs115939164	337	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA951996 rs749182805	338	T>K		No	ClinGen ExAC TOPMed gnomAD
CA951995 rs535537823	339	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755957806 CA951994	340	I>V		No	ClinGen ExAC gnomAD
RCV000952296 CA951993 rs143611208	343	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1161775467 CA341352074	344	F>Y		No	ClinGen TOPMed
CA341352069 rs1454922865	345	M>V		No	ClinGen gnomAD
rs1558090856 CA341352060	346	S>P		No	ClinGen Ensembl
CA341352015 rs1455996480	351	I>L		No	ClinGen gnomAD
CA341352008 rs1386718559	352	V>M		No	ClinGen gnomAD
rs117711462 CA951977	354	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA27114796 rs773804312	354	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs773804312 CA341351992	354	R>P		No	ClinGen TOPMed gnomAD
CA27114795 rs201580469	355	V>I		No	ClinGen Ensembl
rs200330781 CA27114794	358	A>T		No	ClinGen gnomAD
CA341351968 rs1221963417	358	A>V		No	ClinGen TOPMed
TCGA novel	361	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs916174651 CA27114793	362	M>T		No	ClinGen Ensembl
CA341351946 rs1290812711	362	M>V		No	ClinGen TOPMed
rs202009188 CA951975	365	A>E		No	ClinGen ExAC TOPMed gnomAD
CA27114792 rs202009188	365	A>G		No	ClinGen ExAC TOPMed gnomAD
CA341351923 rs1209334220	365	A>T		No	ClinGen gnomAD
CA951974 rs780012640	368	M>V		No	ClinGen ExAC TOPMed gnomAD
CA951972 rs769548687	370	L>F		No	ClinGen ExAC gnomAD
CA27114790 rs201628087	371	D>Y		No	ClinGen Ensembl
rs780991778 CA951970	372	M>T		No	ClinGen ExAC gnomAD
rs745626035 CA951971	372	M>V		No	ClinGen ExAC gnomAD
CA27114789 rs996958468	374	G>E		No	ClinGen TOPMed
CA951968 rs751176268	375	M>I		No	ClinGen ExAC gnomAD
CA951969 rs756881274	375	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1207011301 CA341351817	378	H>Q		No	ClinGen gnomAD
rs569327954 CA951932 COSM2260135	380	Q>E	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA27114744 rs1043225244	380	Q>P		No	ClinGen TOPMed gnomAD
CA341351805 rs1043225244	380	Q>R		No	ClinGen TOPMed gnomAD
CA341351794 rs1367406818	381	K>N		No	ClinGen TOPMed
CA341351785 rs1326287199	383	I>F		No	ClinGen gnomAD
CA341351783 rs1283306459	383	I>T		No	ClinGen gnomAD
CA341351780 rs1227269343	384	P>A		No	ClinGen TOPMed gnomAD
rs1442549073 CA341351760	386	Q>H		No	ClinGen gnomAD
rs756482645 CA951929	386	Q>R		No	ClinGen ExAC gnomAD
CA951928 rs750625855	387	F>L		No	ClinGen ExAC TOPMed gnomAD
rs200075081 CA951927	388	D>H		No	ClinGen ExAC TOPMed gnomAD
rs762045804 CA951926	389	G>A		No	ClinGen ExAC gnomAD
rs1358217957 CA341351739	390	V>I		No	ClinGen TOPMed
rs377096976 CA27114742	392	D>G		No	ClinGen Ensembl
CA341351727 rs1247182900	392	D>N		No	ClinGen TOPMed
rs1177176977 CA341153045	394	L>P		No	ClinGen gnomAD
rs1294357893 CA341153046	394	L>V		No	ClinGen TOPMed
CA27114741 rs868752977	396	Q>*		No	ClinGen Ensembl
rs200367384 CA951923	397	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776493249 CA951922	398	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1242849198 CA341153019	398	A>V		No	ClinGen gnomAD
rs1182043628 CA341153017	399	Y>H		No	ClinGen TOPMed
CA341153005 rs1365453389	400	Q>E		No	ClinGen gnomAD
CA341152991 rs1182148584	401	V>I		No	ClinGen gnomAD
CA341152956 rs1208696444	403	Y>*		No	ClinGen gnomAD
rs1264340123 CA341152964	403	Y>H		No	ClinGen gnomAD
rs1264340123 CA341152966	403	Y>N		No	ClinGen gnomAD
rs1314590069 CA341152951	404	N>D		No	ClinGen gnomAD
rs746821999 CA951920	404	N>K		No	ClinGen ExAC gnomAD
rs773079674 CA951919 CA27114740	405	S>*		No	ClinGen ExAC gnomAD
CA341152939 rs1223986530	405	S>T		No	ClinGen gnomAD
CA341152926 rs1312568677	406	K>R		No	ClinGen gnomAD
TCGA novel	407	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760182064	408	M>*	Variant assessed as Somatic; 9.767e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs760182064	408	M>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA27114739 rs200529227	408	M>V		No	ClinGen Ensembl
rs1445420758 CA341152885	409	K>E		No	ClinGen TOPMed
CA27112744 rs754879339	410	K>N		No	ClinGen Ensembl
CA341152865 rs1384570434	410	K>T		No	ClinGen gnomAD
rs760672417 CA951898	412	E>G		No	ClinGen ExAC gnomAD
CA951896 rs368268624	416	T>A		No	ClinGen ESP ExAC gnomAD
rs1197827354 CA341152507	417	T>I		No	ClinGen TOPMed
rs761544228 CA951895	418	I>V		No	ClinGen ExAC gnomAD
CA951894 rs146140626	420	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1042789120 CA27112741	423	M>I		No	ClinGen Ensembl
rs1218627619 CA341152459	424	E>G		No	ClinGen gnomAD
CA341152463 rs1296170895	424	E>K		No	ClinGen gnomAD
rs1178673872 CA341152450	425	E>A		No	ClinGen TOPMed
rs1429315826 CA341152443	426	Q>R		No	ClinGen TOPMed
CA951891 rs140780079	429	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201089528 CA27112739	429	I>V		No	ClinGen TOPMed gnomAD
rs1024811257 CA27111541	431	R>S		No	ClinGen TOPMed gnomAD
rs201218934 CA951866	431	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746351777 CA951864	433	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1420574472 CA341153907 COSM1344924	433	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA341153905 rs1420574472	433	R>L		No	ClinGen TOPMed gnomAD
CA341153893 rs1182768598	435	E>V		No	ClinGen gnomAD
CA341153879 rs771257035	437	R>K		No	ClinGen ExAC gnomAD
CA951862 rs771257035	437	R>T		No	ClinGen ExAC gnomAD
RCV000626006 rs200507358 CA951860	442	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM244322 CA951859 rs758545455	442	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA27111539 rs200507358	442	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1318972305 CA341153841	443	I>T		No	ClinGen gnomAD
CA951857 rs778841157	444	E>K		No	ClinGen ExAC TOPMed gnomAD
CA341153833 COSM536683 rs1381096353	444	E>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1454039644 CA341153821	446	L>S		No	ClinGen gnomAD
TCGA novel	447	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	447	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA27111537 rs755133604	447	E>K		No	ClinGen ExAC TOPMed gnomAD
rs755133604 CA951856	447	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	448	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341153686 rs1451430081	451	C>R		No	ClinGen TOPMed
rs765938018 CA951826	451	C>S		No	ClinGen ExAC TOPMed gnomAD
CA951825 rs761154221	452	S>G		No	ClinGen ExAC TOPMed gnomAD
rs201660887 CA27108454	452	S>N		No	ClinGen Ensembl
rs200865066 CA951824	455	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1379820315 CA341153639	457	E>D		No	ClinGen gnomAD
CA951822 rs201080134	457	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	459	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341153622 rs1303449899	460	V>M		No	ClinGen gnomAD
CA341153613 rs1430068683	461	L>P		No	ClinGen gnomAD
TCGA novel	464	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341153582 rs1343562061	466	E>K		No	ClinGen gnomAD
TCGA novel	469	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341153558 rs1420614407	469	Q>R		No	ClinGen gnomAD
rs199689262 CA27108453	470	A>D		No	ClinGen Ensembl
CA951819 rs143887144	471	R>*		No	ClinGen ESP ExAC gnomAD
CA951818 rs143887144	471	R>G		No	ClinGen ESP ExAC gnomAD
rs756320119 CA951817	471	R>Q		No	ClinGen ExAC gnomAD
CA951815 rs201168111	472	L>M		No	ClinGen ExAC TOPMed gnomAD
rs201168111 CA341153546	472	L>V		No	ClinGen ExAC TOPMed gnomAD
CA951814 rs758302738	473	S>G		No	ClinGen ExAC gnomAD
CA951813 rs752490054	475	A>T		No	ClinGen ExAC
CA951812 rs778589620	476	E>D		No	ClinGen ExAC gnomAD
rs913063746 CA27108451	476	E>Q		No	ClinGen gnomAD
CA951811 rs754651840	477	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1490085576 CA341153507	478	Q>R		No	ClinGen gnomAD
CA951809 rs765849338	479	C>R		No	ClinGen ExAC TOPMed gnomAD
CA951808 rs760214356	479	C>Y		No	ClinGen ExAC gnomAD
rs972421901 CA27108450	482	K>E		No	ClinGen TOPMed
rs749965289 CA951807	483	E>G		No	ClinGen ExAC gnomAD
rs1212795682 CA341153461	485	Q>E		No	ClinGen TOPMed gnomAD
CA341153460 rs1212795682	485	Q>K		No	ClinGen TOPMed gnomAD
rs768019224 CA951806	486	D>N		No	ClinGen ExAC TOPMed gnomAD
CA951805 rs762238640	487	K>E		No	ClinGen ExAC TOPMed gnomAD
CA341153438 rs1201770354	488	V>I		No	ClinGen TOPMed gnomAD
CA27108449 rs938566952	491	I>M		No	ClinGen TOPMed gnomAD
CA341153417 rs1365214969	491	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA27106248 rs987663188	495	N>S		No	ClinGen Ensembl
CA27106247 rs953526265	499	P>S		No	ClinGen TOPMed gnomAD
CA341153340 rs1170723722	500	D>E		No	ClinGen gnomAD
TCGA novel	501	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341153338 rs1407075053	501	E>K		No	ClinGen TOPMed
rs1287497338 CA341153322	503	N>H		No	ClinGen TOPMed
CA951790 rs753453718	503	N>K		No	ClinGen ExAC gnomAD
CA951789 rs779641770	504	I>L		No	ClinGen ExAC gnomAD
CA27106246 rs202242710	505	A>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs202242710 CA341153309	505	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs755785410 CA951788	506	R>G		No	ClinGen ExAC gnomAD
rs749888981 CA951787	506	R>K		No	ClinGen ExAC gnomAD
CA951786 rs766939891	506	R>S		No	ClinGen ExAC gnomAD
rs762378779 CA951785	507	L>V		No	ClinGen ExAC gnomAD
CA341153289 rs1238683724	508	Q>H		No	ClinGen gnomAD
rs1243071558 CA341153292	508	Q>R		No	ClinGen TOPMed gnomAD
CA341153233 rs1254403787	516	L>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	517	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752066210 CA951784	517	R>T		No	ClinGen ExAC TOPMed gnomAD
CA27106243 rs202244393	519	A>S		No	ClinGen gnomAD
CA341153213 rs1306676452	520	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1557931063 CA341153200	521	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs752703757 CA951783	523	M>R		No	ClinGen ExAC TOPMed gnomAD
rs1340203254 CA341153191	523	M>V		No	ClinGen gnomAD
rs374417183 CA951782	524	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1332617668 CA341153154	528	L>F		No	ClinGen gnomAD
CA27106241 rs374514734	528	L>P		No	ClinGen ESP TOPMed
CA951779 rs565226429	529	R>I		No	ClinGen 1000Genomes ExAC TOPMed
CA27106240 rs565226429	529	R>T		No	ClinGen 1000Genomes ExAC TOPMed
CA951778 rs759853633	530	Q>*		No	ClinGen ExAC gnomAD
rs1466191982 CA341153121	533	K>R		No	ClinGen gnomAD
rs1454761220 CA341153102	536	E>K		No	ClinGen gnomAD
rs1156547886 CA341153079	538	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs142784307 CA951762	541	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs199712285 CA27106086	541	R>H		No	ClinGen Ensembl
rs145456960 CA951761	542	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145456960 CA951760	542	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341152967 rs1163648868	543	L>S		No	ClinGen TOPMed
rs753055293 CA341152953	544	A>G		No	ClinGen ExAC TOPMed gnomAD
CA951759 rs753055293	544	A>V		No	ClinGen ExAC TOPMed gnomAD
CA951758 rs201103592	545	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM913323 CA951756 rs201423013	545	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA951757 rs201423013	545	R>P		No	ClinGen ExAC TOPMed gnomAD
rs148083405 CA951754	547	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773362486 CA951753	549	R>S		No	ClinGen ExAC TOPMed gnomAD
rs377644327 CA951752	550	W>C		No	ClinGen ExAC TOPMed gnomAD
CA341152894 rs1246248534	550	W>R		No	ClinGen gnomAD
rs1275760355 CA341152845	553	P>S		No	ClinGen gnomAD
CA27106084 rs1030286833	554	P>R		No	ClinGen Ensembl
CA341152831 rs1557926858	555	K>N		No	ClinGen Ensembl
rs201367391 CA951748	555	K>R		No	ClinGen ExAC gnomAD
rs1348768344 CA341152827	556	K>E		No	ClinGen TOPMed
rs1163769136 CA341152815	557	N>K		No	ClinGen gnomAD
CA341152811 rs1461426278	558	A>S		No	ClinGen gnomAD
rs745514594 CA951747	559	M>V		No	ClinGen ExAC TOPMed gnomAD
rs756965523 CA951745	561	E>D		No	ClinGen ExAC gnomAD
CA951746 COSM913322 rs202092804	561	E>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA341152772 rs7514716	563	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs553860119 CA951744	563	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758913112 CA951742	564	D>G		No	ClinGen ExAC gnomAD
rs762232096 CA951741	566	L>P		No	ClinGen ExAC gnomAD
rs1012085388 CA27106081	567	M>I		No	ClinGen TOPMed
rs1339317349 CA341152741	568	T>N		No	ClinGen gnomAD
CA341152735 rs1187966876	569	I>T		No	ClinGen TOPMed
rs765670420 CA951740	569	I>V		No	ClinGen ExAC TOPMed gnomAD
rs199911199 CA27106080	570	R>*		No	ClinGen gnomAD
CA341152731 rs201719783	570	R>P		No	ClinGen ExAC TOPMed gnomAD
CA951739 rs201719783	570	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA951738 rs200891304	571	L>F		No	ClinGen ExAC TOPMed gnomAD
CA951736 rs760963829	573	E>D		No	ClinGen ExAC TOPMed gnomAD
CA341152700 rs1323984883	575	E>G		No	ClinGen gnomAD
CA951735 rs754186134	576	T>A		No	ClinGen ExAC gnomAD
TCGA novel	576	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA951734 rs767649928	578	A>S		No	ClinGen ExAC gnomAD
rs200068198 CA951733	579	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1175976178 CA341152667	580	I>T		No	ClinGen gnomAD
rs769547046 CA951731	580	I>V		No	ClinGen ExAC gnomAD
TCGA novel	582	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745612313 CA951730	583	I>R		No	ClinGen ExAC gnomAD
CA341152647 rs745612313	583	I>T		No	ClinGen ExAC gnomAD
rs776508134 CA951729	585	Q>E		No	ClinGen ExAC gnomAD
CA951727 rs181059229	587	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA951728 rs770435762	587	M>L		No	ClinGen ExAC gnomAD
CA951726 rs777421217	590	M>I		No	ClinGen ExAC TOPMed gnomAD
CA27106079 rs201600690	590	M>V		No	ClinGen Ensembl
CA341152578 rs1557926042	592	T>I		No	ClinGen Ensembl
rs748631244 CA951724	593	Q>P		No	ClinGen ExAC gnomAD
CA341152386 rs1192324019	595	Q>R		No	ClinGen gnomAD
rs756549448 CA951699	597	N>S		No	ClinGen ExAC gnomAD
CA27104238 rs199720566	598	S>R		No	ClinGen Ensembl
TCGA novel	599	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341152330 rs1264838747	599	N>K		No	ClinGen gnomAD
rs866747676 CA27104237	602	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA951697 rs781351466	602	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA951696 rs200094131	603	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA341152283 rs1322270625	603	R>S		No	ClinGen TOPMed gnomAD
CA341152278 rs1290631885	604	A>T		No	ClinGen TOPMed gnomAD
rs1571858612 CA341152231	607	E>G		No	ClinGen Ensembl
CA951693 rs759389964	609	I>T		No	ClinGen ExAC gnomAD
rs1388500927 CA341152209	609	I>V		No	ClinGen TOPMed
RCV000455680 VAR_028891 rs11808092 CA951691	612	Q>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1439157767 CA341152171	612	Q>R		No	ClinGen gnomAD
CA951690 COSM1344922 rs760501627	613	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA341152150 rs1463584321	614	K>E		No	ClinGen gnomAD
rs201447972 CA27104235	615	V>A		No	ClinGen Ensembl
rs773160619 CA951689	615	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1170943000 CA341152125	616	Q>*		No	ClinGen gnomAD
CA951688 rs771789795	616	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1393128437 CA341152108	617	Y>C		No	ClinGen TOPMed
CA341152062 rs1369667329	621	Q>R		No	ClinGen gnomAD
CA951687 rs200368939	622	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1192738072 CA341152037	623	K>R		No	ClinGen gnomAD
CA951686 rs773727645	625	L>P		No	ClinGen ExAC gnomAD
rs201906216 CA951685	627	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150908969 CA951683	630	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA27104234 rs1037069623	630	S>T		No	ClinGen Ensembl
CA341151921 rs1228360849	633	K>E		No	ClinGen gnomAD
rs1311854813 COSM1344921 CA341151908	634	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA951682 rs770316787 COSM3419581	634	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1311854813 CA341151911	634	R>S		No	ClinGen gnomAD
rs200773636 CA951681	635	K>E		No	ClinGen ExAC gnomAD
rs200281620 CA951680	636	Q>*		No	ClinGen ExAC gnomAD
CA341151847 rs1331242445	638	E>D		No	ClinGen gnomAD
CA341151841 rs1226060780	639	I>V		No	ClinGen TOPMed
TCGA novel	640	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341151829 rs1251321256	640	E>Q		No	ClinGen TOPMed
rs202103359 CA27104233	641	C>R		No	ClinGen TOPMed
TCGA novel	642	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341151345 rs1324170494	644	K>T		No	ClinGen TOPMed
rs1423302089 CA341151322	647	V>L		No	ClinGen gnomAD
CA951662 rs762486917	648	M>K		No	ClinGen ExAC TOPMed gnomAD
CA341151315 rs762486917	648	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1183747153 CA341151302	650	V>L		No	ClinGen gnomAD
rs142494678 CA951661	651	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201454672 CA341151284	653	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201454672 CA951659	653	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA951660 rs199524271	653	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA27104014 rs200437375	656	D>A		No	ClinGen 1000Genomes
CA27104013 rs372144299	656	D>E		No	ClinGen TOPMed gnomAD
CA951658 rs776978315	657	S>C		No	ClinGen ExAC TOPMed gnomAD
rs771345036 CA951657	657	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	658	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs973546189 CA27104012	658	I>V		No	ClinGen TOPMed gnomAD
CA341151243 rs1314270195	660	A>T		No	ClinGen gnomAD
rs201842104 CA27104011	661	V>M		No	ClinGen gnomAD
rs200273855 CA951656	662	A>S		No	ClinGen ExAC TOPMed gnomAD
CA951655 rs778007926	665	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA951654 COSM1640007 rs199790731	665	R>Q	stomach [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA341151209 rs1162581470	666	Q>R		No	ClinGen TOPMed gnomAD
rs201289478 CA27104010	667	H>Y		No	ClinGen Ensembl
rs778859723 CA951652	668	I>V		No	ClinGen ExAC TOPMed gnomAD
CA951651 rs756115347	669	A>T		No	ClinGen ExAC gnomAD
rs111713880 CA27104009	670	E>G		No	ClinGen Ensembl
rs1571845941 CA341151173	672	E>Q		No	ClinGen Ensembl
rs200192259 CA951650	674	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs752352554 CA951623	675	K>E		No	ClinGen ExAC gnomAD
CA951620 rs759090198	677	E>G		No	ClinGen ExAC gnomAD
CA341151114 rs1265050631	678	G>E		No	ClinGen gnomAD
CA341151108 rs753382027	679	K>M		No	ClinGen ExAC gnomAD
CA951618 rs753382027	679	K>R		No	ClinGen ExAC gnomAD
rs138806513 CA951617	681	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA341151084 rs1411830912	683	Q>*		No	ClinGen gnomAD
CA341151079 rs1364181759	683	Q>H		No	ClinGen TOPMed
CA27099226 rs927324807	685	N>I		No	ClinGen gnomAD
CA951616 rs761088118	688	D>G		No	ClinGen ExAC gnomAD
CA951614 rs61735639	691	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762072535 CA951613	692	Y>H		No	ClinGen ExAC gnomAD
rs1557795461 CA341151021	692	Y>S		No	ClinGen Ensembl
COSM1688045 CA951612 rs774753301	694	G>R	skin [Cosmic]	No	ClinGen cosmic curated ExAC
rs769030192 CA951611	695	E>*		No	ClinGen ExAC gnomAD
CA341150962 rs1297282636	700	I>M		No	ClinGen TOPMed
CA951608 rs771112779	701	A>V		No	ClinGen ExAC TOPMed gnomAD
CA951607 rs780295558	705	H>D		No	ClinGen ExAC gnomAD
CA27093906 rs969429528	708	R>G		No	ClinGen TOPMed gnomAD
rs1342185237 CA341152359	708	R>T		No	ClinGen TOPMed
rs140423717 CA951590	709	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1283685554 CA341152344	709	C>Y		No	ClinGen TOPMed gnomAD
CA341152299 rs763273910	712	G>D		No	ClinGen ExAC TOPMed gnomAD
CA951589 rs763273910	712	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	714	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373938333 CA951588	717	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA341152191 rs1402834229	720	P>S		No	ClinGen TOPMed gnomAD
CA341152173 rs1571246089	721	P>L		No	ClinGen Ensembl
CA951586 rs746945638	721	P>T		No	ClinGen ExAC gnomAD
CA341152147 rs1412054247	723	D>G		No	ClinGen gnomAD
rs773066792 CA951585	723	D>N		No	ClinGen ExAC TOPMed gnomAD
CA341152130 rs1475923765	724	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA341152137 rs1160981488	724	G>R		No	ClinGen gnomAD
rs199716793 CA27093905	725	I>M		No	ClinGen gnomAD
rs1162931774 CA341152122	725	I>N		No	ClinGen TOPMed gnomAD
CA951584 rs772081750	725	I>V		No	ClinGen ExAC gnomAD
CA341152105 rs1487185975	726	H>L		No	ClinGen gnomAD
CA341152091 rs1216342554	727	I>T		No	ClinGen gnomAD
rs747893888 CA951583	727	I>V		No	ClinGen ExAC TOPMed gnomAD
rs748996054 CA951580	729	N>K		No	ClinGen ExAC gnomAD
rs183854416 CA951581	729	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1426104810 CA341152066	729	N>Y		No	ClinGen TOPMed
CA951579 rs779591884	730	H>Y		No	ClinGen ExAC gnomAD
CA341152036 rs1399935121	731	L>V		No	ClinGen TOPMed
CA341152009 rs1218252810	733	G>R		No	ClinGen gnomAD
CA341151998 rs1571245662	733	G>V		No	ClinGen Ensembl
rs566986526 CA951577	736	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA951575 rs757852548	739	H>Y		No	ClinGen ExAC gnomAD
CA27093904 rs972882832	742	D>A		No	ClinGen TOPMed
CA341151869 rs1325116390	742	D>N		No	ClinGen TOPMed
rs533408017 CA951570	744	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1418028462 COSM1627253 CA341151840	744	D>Y	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	745	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA27093903 rs200683132	746	I>L		No	ClinGen TOPMed gnomAD
rs200683132 CA27093902 COSM3977976	746	I>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs199521058 CA27093901	747	D>G		No	ClinGen Ensembl
CA27093900 rs200102416	748	N>D		No	ClinGen TOPMed
CA951569 rs201450382 COSM375287	748	N>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA341151768 rs1186923514	750	L>S		No	ClinGen gnomAD
TCGA novel	754	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146602523 CA951567	754	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA951566 rs748146159	756	G>V		No	ClinGen ExAC gnomAD
rs1198192527 CA341151716	758	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA951565 rs774116515	760	H>D		No	ClinGen ExAC gnomAD
CA951563 rs142905346	761	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367411605 CA341151673	764	G>V		No	ClinGen TOPMed gnomAD
CA951561 rs755812556	765	S>L		No	ClinGen ExAC TOPMed gnomAD
CA951559 rs139452163	766	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA341151650 rs1463700750	768	L>S		No	ClinGen TOPMed gnomAD
CA341151642 rs1355892402	769	D>G		No	ClinGen gnomAD
rs1432373243 CA341151635	770	P>R		No	ClinGen gnomAD
rs373069997 CA27093898	770	P>S		No	ClinGen ESP TOPMed
rs144291497 CA951556	771	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3377316 rs144291497 CA951555	771	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs147173044 CA951553	772	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	773	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198052537 CA341151619	773	A>V		No	ClinGen gnomAD
rs1479725638 CA341151614	774	D>G		No	ClinGen gnomAD
rs1210286281 CA341151617	774	D>H		No	ClinGen TOPMed
CA341151604 rs1293869694	776	S>G		No	ClinGen TOPMed
CA27093897 rs368759252	778	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1290022617 CA341151587	778	S>N		No	ClinGen gnomAD
CA951552 rs368759252	778	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs766500924 CA951550	779	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1195643808 CA341151569	781	E>K		No	ClinGen TOPMed
rs1237087404 CA341151553	783	S>G		No	ClinGen gnomAD
rs761714329 CA951549	784	V>M		No	ClinGen ExAC gnomAD
CA341151522 rs1443911149	787	T>I		No	ClinGen gnomAD
CA341151521 rs1298391368	788	R>G		No	ClinGen gnomAD
rs768609602 CA951547	788	R>T		No	ClinGen ExAC TOPMed gnomAD
CA951546 rs529586905	789	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341151493 rs1417288333	791	N>K		No	ClinGen TOPMed
rs1435146028 CA341151490	792	Q>*		No	ClinGen gnomAD
rs1435146028 CA341151491	792	Q>E		No	ClinGen gnomAD
CA341151492 rs1435146028	792	Q>K		No	ClinGen gnomAD
rs769264438 CA951544	792	Q>L		No	ClinGen ExAC gnomAD
CA341151477 rs1571243929	794	V>F		No	ClinGen Ensembl
TCGA novel	796	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755476736 CA341151447	798	R>L		No	ClinGen ExAC TOPMed gnomAD
CA951541 rs755476736 COSM3741429	798	R>Q	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs201511730 COSM913316 CA951542	798	R>W	endometrium Variant assessed as Somatic; 0.0008797 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA27093895 rs969483216	799	P>L		No	ClinGen Ensembl
rs1166893760 CA341151440	800	P>A		No	ClinGen gnomAD
rs747494688 CA951540	800	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	800	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199913873 CA27093893	802	R>K		No	ClinGen Ensembl
TCGA novel	803	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201443870 CA341151416	804	E>K		No	ClinGen TOPMed gnomAD
CA27093892 rs201443870	804	E>Q		No	ClinGen TOPMed gnomAD
rs1213431324 CA341151406	805	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD

1 associated diseases with O60447

Without disease ID

1 regional properties for O60447

Type	Name	Position	InterPro Accession
domain	Rab-GAP-TBC domain	160 - 371	IPR000195

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle	Associates with the mitotic spindle through anaphase and remains within the midzone and midbody until completion of cytokinesis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
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.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

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.

5 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.
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
retrograde transport, endosome to Golgi	The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.

27 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8WUA7	TBC1D22A	TBC1 domain family member 22A	Homo sapiens (Human)	PR
Q8IZP1	TBC1D3	TBC1 domain family member 3	Homo sapiens (Human)	PR
Q6IPX1	TBC1D3C	TBC1 domain family member 3C	Homo sapiens (Human)	PR
B9A6J9	TBC1D3L	TBC1 domain family member 3L	Homo sapiens (Human)	PR
A0A087WVF3	TBC1D3D	TBC1 domain family member 3D	Homo sapiens (Human)	PR
A6NER0	TBC1D3F	TBC1 domain family member 3F	Homo sapiens (Human)	PR
A0A087WXS9	TBC1D3I	TBC1 domain family member 3I	Homo sapiens (Human)	PR
Q6DHY5	TBC1D3G	TBC1 domain family member 3G	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
P0C7X1	TBC1D3H	TBC1 domain family member 3H	Homo sapiens (Human)	PR
A6NDS4	TBC1D3B	TBC1 domain family member 3B	Homo sapiens (Human)	PR
Q8IV04	TBC1D10C	Carabin	Homo sapiens (Human)	PR
Q5TC63	GRTP1	Growth hormone-regulated TBC protein 1	Homo sapiens (Human)	PR
O60343	TBC1D4	TBC1 domain family member 4	Homo sapiens (Human)	PR
Q86TI0	TBC1D1	TBC1 domain family member 1	Homo sapiens (Human)	PR
Q3MII6	TBC1D25	TBC1 domain family member 25	Homo sapiens (Human)	PR
Q2NKQ1	SGSM1	Small G protein signaling modulator 1	Homo sapiens (Human)	PR
Q9HA65	TBC1D17	TBC1 domain family member 17	Homo sapiens (Human)	PR
Q8TC07	TBC1D15	TBC1 domain family member 15	Homo sapiens (Human)	PR
O95759	TBC1D8	TBC1 domain family member 8	Homo sapiens (Human)	PR
Q0IIM8	TBC1D8B	TBC1 domain family member 8B	Homo sapiens (Human)	PR
Q66K14	TBC1D9B	TBC1 domain family member 9B	Homo sapiens (Human)	PR
Q6ZT07	TBC1D9	TBC1 domain family member 9	Homo sapiens (Human)	PR
Q8TEA7	TBCK	TBC domain-containing protein kinase-like protein	Homo sapiens (Human)	PR
Q9UPU7	TBC1D2B	TBC1 domain family member 2B	Homo sapiens (Human)	PR
P97366	Evi5	Ecotropic viral integration site 5 protein	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MVTNKMTAAF	RNPSGKQVAT	DKVAEKLSST	LSWVKNTVSH	TVSQMASQVA	SPSTSLHTTS
70	80	90	100	110	120
SSTTLSTPAL	SPSSPSQLSP	DDLELLAKLE	EQNRLLETDS	KSLRSVNGSR	RNSGSSLVSS
130	140	150	160	170	180
SSASSNLSHL	EEDSWILWGR	IVNEWEDVRK	KKEKQVKELV	HKGIPHHFRA	IVWQLLCSAQ
190	200	210	220	230	240
SMPIKDQYSE	LLKMTSPCEK	LIRRDIARTY	PEHNFFKEKD	SLGQEVLFNV	MKAYSLVDRE
250	260	270	280	290	300
VGYCQGSAFI	VGLLLMQMPE	EEAFCVFVKL	MQDYRLRELF	KPSMAELGLC	MYQFECMIQE
310	320	330	340	350	360
HLPELFVHFQ	SQSFHTSMYA	SSWFLTIFLT	TFPLPIATRI	FDIFMSEGLE	IVFRVGLALL
370	380	390	400	410	420
QMNQAELMQL	DMEGMLQHFQ	KVIPHQFDGV	PDKLIQAAYQ	VKYNSKKMKK	LEKEYTTIKT
430	440	450	460	470	480
KEMEEQVEIK	RLRTENRLLK	QRIETLEKHK	CSSNYNEDFV	LQLEKELVQA	RLSEAESQCA
490	500	510	520	530	540
LKEMQDKVLD	IEKRNNSLPD	ENNIARLQEE	LIAVKLREAE	AIMGLKELRQ	QVKDLEEHWQ
550	560	570	580	590	600
RHLARTTGRW	KDPPKKNAMN	ELQDELMTIR	LREAETQAEI	REIKQRMMEM	ETQNQINSNH
610	620	630	640	650	660
LRRAEQEVIS	LQEKVQYLSA	QNKGLLTQLS	EAKRKQAEIE	CKNKEEVMAV	RLREADSIAA
670	680	690	700	710	720
VAELRQHIAE	LEIQKEEGKL	QGQLNKSDSN	QYIGELKDQI	AELNHELRCL	KGQRGFSGQP
730	740	750	760	770	780
PFDGIHIVNH	LIGDDESFHS	SDEDFIDNSL	QETGVGFPLH	GKSGSMSLDP	AVADGSESET
790	800
EDSVLETRES	NQVVQKERPP	RRRESYSTTV