AiPD: Autoinhibited Protein Database

Q8TC05

Gene name	MDM1
Protein name	Nuclear protein MDM1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56890
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

226-298 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

226-298 (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 Q8TC05

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8TC05-F1	Predicted				AlphaFoldDB

604 variants for Q8TC05

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs866555808 CA238401560	2	P>S		No	ClinGen TOPMed gnomAD
CA6677025 rs199537908	4	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs925250920 CA238401539	4	R>H		No	ClinGen TOPMed gnomAD
CA238401512 rs925250920	4	R>L		No	ClinGen TOPMed gnomAD
CA385692424 rs925250920	4	R>P		No	ClinGen TOPMed gnomAD
rs370281785 CA6677024	6	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385692353 rs1414357436	9	S>N		No	ClinGen gnomAD
CA238400684 rs768162764	11	Y>*		No	ClinGen Ensembl
CA385692337 rs148150437	11	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs148150437 CA6676999	11	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1170272109 CA385692329	12	Q>R		No	ClinGen gnomAD
CA238400660 rs778494486	13	R>G		No	ClinGen ExAC gnomAD
rs756788610 CA6676997	13	R>S		No	ClinGen ExAC gnomAD
CA385692308 rs1441726449	15	F>S		No	ClinGen TOPMed
rs753555937 CA6676995	17	W>*		No	ClinGen ExAC gnomAD
TCGA novel	19	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565790338 CA385692275	20	S>P		No	ClinGen Ensembl
rs1231209109 CA385692241	24	E>D		No	ClinGen TOPMed
rs767059630 CA6676991	26	C>R		No	ClinGen ExAC TOPMed gnomAD
CA385692225 rs1276653663	27	N>Y		No	ClinGen TOPMed gnomAD
CA6676990 rs763074258	28	S>F		No	ClinGen ExAC TOPMed gnomAD
rs769947954 CA6676988	30	V>E		No	ClinGen ExAC gnomAD
CA6676989 rs773099699	30	V>L		No	ClinGen ExAC gnomAD
CA385692208 rs773099699	30	V>M		No	ClinGen ExAC gnomAD
rs776888394 CA6676985	32	R>*		No	ClinGen ExAC
CA6676987 rs776888394	32	R>G		No	ClinGen ExAC
CA385692197 rs560131886	32	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560131886 CA385692198	32	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6676984 rs560131886	32	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746876394 CA6676983	33	K>R		No	ClinGen ExAC gnomAD
rs779957396 CA385692183	34	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA385692184 rs1331704168	34	Y>F		No	ClinGen gnomAD
rs1466221091 CA385692158	38	G>*		No	ClinGen TOPMed
CA385692125 rs1193745552	43	Q>E		No	ClinGen TOPMed
CA238400531 rs910614651	44	L>S		No	ClinGen TOPMed
rs1416211592 CA385692111	45	G>C		No	ClinGen TOPMed
CA6676954 rs755770448	45	G>D		No	ClinGen ExAC TOPMed gnomAD
rs747833907 CA6676953	47	T>A		No	ClinGen ExAC gnomAD
CA385690892 rs780232864	47	T>K		No	ClinGen ExAC TOPMed gnomAD
CA6676952 rs780232864	47	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757274716 CA6676948	51	S>I		No	ClinGen ExAC TOPMed gnomAD
CA6676949 rs757274716	51	S>T		No	ClinGen ExAC TOPMed gnomAD
CA385690774 COSM3704376 rs1405330978 COSM3704377	53	I>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6676947 rs376844094	55	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676946 rs376844094	55	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	56	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6676945 rs760841949	56	R>T		No	ClinGen ExAC gnomAD
rs1261191511 CA385690695	57	R>G		No	ClinGen gnomAD
TCGA novel	57	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6676943 rs767191401	57	R>S		No	ClinGen ExAC TOPMed gnomAD
CA385690665 rs1345902879	58	V>A		No	ClinGen gnomAD
CA6676942 rs759413758	59	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1431718039 CA385690559	64	Q>K		No	ClinGen gnomAD
rs971330459 CA238397046	71	W>*		No	ClinGen TOPMed
rs769451196 CA6676937	72	N>I		No	ClinGen ExAC gnomAD
CA6676936 rs747780749	74	A>G		No	ClinGen ExAC gnomAD
CA238397020 rs1023105972	76	S>A		No	ClinGen Ensembl
rs1208809735 CA385690311	77	E>Q		No	ClinGen gnomAD
CA6676935 rs780938575	79	N>D		No	ClinGen ExAC gnomAD
CA385690235 rs1248565765	80	V>M		No	ClinGen TOPMed
rs758687080 CA6676934	82	A>T		No	ClinGen ExAC gnomAD
CA6676933 rs138786804	82	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757698696 CA6676931	83	S>L		No	ClinGen ExAC TOPMed gnomAD
rs754369915 CA6676930	85	E>D		No	ClinGen ExAC gnomAD
CA385690138 rs1468644777	85	E>G		No	ClinGen TOPMed
CA6676929 rs145037466	86	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676928 rs556289246	89	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556289246 CA6676927	89	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1369158075 CA385690043	90	E>A		No	ClinGen TOPMed
rs759236781 CA6676925	95	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs759236781 CA385689972	95	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs146533861 CA6676924	95	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592993306 CA385689900	97	A>V		No	ClinGen Ensembl
rs766092096 CA6676923	98	E>K		No	ClinGen ExAC gnomAD
CA385689866 rs1446420287	99	Q>*		No	ClinGen gnomAD
CA6676920 rs144156006	99	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676921 rs144156006	99	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs140388999 CA6676919	100	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1204135479 CA385689851	100	K>T		No	ClinGen TOPMed
CA6676918 rs761483086	101	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1040706614 CA238396889	101	D>V		No	ClinGen TOPMed gnomAD
rs776136976 CA6676917	103	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6676916 VAR_034782 rs962976	103	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA385689795 rs962976	103	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745473547 CA385689749	105	E>K		No	ClinGen TOPMed
rs745473547 CA238396853	105	E>Q		No	ClinGen TOPMed
CA385689686 rs1229339268	108	H>R		No	ClinGen gnomAD
rs1409719291 CA385689647	111	E>G		No	ClinGen TOPMed
rs1054145300 CA238396828	117	K>E		No	ClinGen TOPMed gnomAD
CA6676911 rs778290606	123	S>F		No	ClinGen ExAC TOPMed gnomAD
CA385689410 rs1343095465	124	A>V		No	ClinGen TOPMed
CA385689390 rs1368206599	126	S>F		No	ClinGen TOPMed gnomAD
rs1163328716 CA385689389	127	R>G		No	ClinGen gnomAD
rs142155064 CA6676910	128	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA385689351 rs1386611278	129	E>A		No	ClinGen gnomAD
CA238396780 rs930468143	131	A>T		No	ClinGen Ensembl
CA238396778 rs920371192	132	S>A		No	ClinGen TOPMed
rs1457095167 CA385689288	133	D>E		No	ClinGen gnomAD
CA6676908 rs117673673	134	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385689286 rs1247989465	134	V>M		No	ClinGen gnomAD
CA385689230 rs1264599393	137	N>S		No	ClinGen gnomAD
CA385689222 rs1482228430	138	E>K		No	ClinGen gnomAD
rs751761133 CA6676905	139	G>C		No	ClinGen ExAC gnomAD
rs147172091 CA385689203	139	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs751761133 CA6676906	139	G>S		No	ClinGen ExAC gnomAD
CA6676904 rs147172091	139	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs371336130 CA6676903	140	V>I		No	ClinGen ESP ExAC gnomAD
CA6676902 rs750383162	141	T>A		No	ClinGen ExAC TOPMed gnomAD
CA238396750 rs940371426	143	H>Y		No	ClinGen TOPMed gnomAD
CA385689123 rs1244762235	144	T>I		No	ClinGen TOPMed gnomAD
CA238396739 rs927624386	145	P>L		No	ClinGen TOPMed
CA385689116 rs1392139007	145	P>S		No	ClinGen gnomAD
CA385689045 rs1416327502	149	N>S		No	ClinGen TOPMed
rs145082615 CA6676900	150	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200960850 CA6676897	151	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676896 rs775050935	151	E>D		No	ClinGen ExAC
rs200960850 CA6676898	151	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA385689002 rs1363209359	151	E>V		No	ClinGen TOPMed
CA385688885 rs1438559207	157	K>R		No	ClinGen gnomAD
CA385688860 rs369718005	158	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs369718005 CA6676894	158	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344546009 CA385688819	160	S>L		No	ClinGen TOPMed
rs1419277180 CA385688751	164	D>G		No	ClinGen gnomAD
rs778237723 CA6676893	164	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	166	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385687163 rs1406351423	167	L>V		No	ClinGen gnomAD
CA385687140 rs1408015795	169	R>G		No	ClinGen gnomAD
rs1443902236 CA385687113	171	L>P		No	ClinGen gnomAD
rs1168458389 CA385687116	171	L>V		No	ClinGen TOPMed gnomAD
CA6676855 rs372443907	172	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs139463520 CA6676852	172	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676854 rs139463520	172	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139463520 CA6676853	172	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676851 rs762150878	173	K>E		No	ClinGen ExAC gnomAD
rs1246670561 CA385687092	174	K>E		No	ClinGen TOPMed
rs1439950376 CA385687080	175	A>T		No	ClinGen gnomAD
rs777181808 CA6676850	176	G>*		No	ClinGen ExAC gnomAD
rs777181808 CA385687068	176	G>R		No	ClinGen ExAC gnomAD
CA6676849 rs377153206	179	V>I		No	ClinGen ExAC TOPMed gnomAD
rs886146770 CA238395438	180	V>A		No	ClinGen TOPMed
CA6676848 rs747552889	180	V>L		No	ClinGen ExAC gnomAD
rs1312365284 CA385687036	181	P>T		No	ClinGen gnomAD
rs772296968 CA6676846	183	Y>C		No	ClinGen ExAC gnomAD
rs147349411 CA6676845	184	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141350676 CA238395385	184	N>T		No	ClinGen 1000Genomes
CA385686998 rs1206010655	185	A>V		No	ClinGen Ensembl
rs368349518 CA6676844	188	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770759215 CA6676843	189	S>A		No	ClinGen ExAC TOPMed gnomAD
CA385686943 rs1329278342	193	R>K		No	ClinGen gnomAD
CA238395360 rs867144993	199	T>A		No	ClinGen Ensembl
rs1363640237 CA385686897	199	T>N		No	ClinGen gnomAD
CA385686887 rs1445337474	201	K>E		No	ClinGen gnomAD
rs752664101 CA6676840	203	T>I		No	ClinGen ExAC gnomAD
CA6676839 rs752664101	203	T>N		No	ClinGen ExAC gnomAD
rs138314442 CA6676838	204	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs942905042 CA238395331	204	A>V		No	ClinGen TOPMed
rs754531904 CA6676837	206	A>V		No	ClinGen ExAC gnomAD
CA385686845 rs1489943087	208	A>P		No	ClinGen gnomAD
TCGA novel	209	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6676835 rs374381882	210	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6676834 rs762679208	210	N>S		No	ClinGen ExAC TOPMed gnomAD
COSM107486 rs138941402 CA238395262	211	Q>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs757944968 CA6676814	212	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6676813 rs750109702	214	H>Y		No	ClinGen ExAC gnomAD
rs928787098 CA238393099	215	N>D		No	ClinGen TOPMed
rs1424314082 CA385686658	215	N>T		No	ClinGen TOPMed
rs764339239 CA6676812	216	K>E		No	ClinGen ExAC TOPMed gnomAD
CA385686651 rs1565782635	216	K>T		No	ClinGen Ensembl
rs1391974027 CA385686627	219	F>Y		No	ClinGen TOPMed
TCGA novel	222	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	223	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336359648 CA385686595	224	K>E		No	ClinGen gnomAD
CA6676809 rs768200618	227	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6676808 rs760137426	230	H>R		No	ClinGen ExAC gnomAD
rs763038499 CA6676806	231	E>A		No	ClinGen ExAC gnomAD
rs763038499 CA6676805	231	E>G		No	ClinGen ExAC gnomAD
CA385686537 rs1592986071	232	T>I		No	ClinGen Ensembl
CA6676804 rs773533782	236	R>G		No	ClinGen ExAC gnomAD
CA238393019 rs112211234 COSM1363851	238	F>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA6676803 rs769547099	240	G>R		No	ClinGen ExAC gnomAD
COSM942870 CA238392989 rs968461270	240	G>V	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA385686473 rs1202692184	241	L>F		No	ClinGen gnomAD
CA6676801 COSM1476860 rs747994706	243	P>A	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA238392979 rs1016693580	243	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA385686459 rs1233710757	244	V>E		No	ClinGen gnomAD
rs1306648084 CA385686445	246	E>A		No	ClinGen gnomAD
CA385686440 rs1419303019	247	P>T		No	ClinGen gnomAD
CA385686426 rs1382054044	249	L>I		No	ClinGen TOPMed
CA6676796 rs779381099	253	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6676798 rs563821766	253	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs746978342 CA6676797	253	L>W		No	ClinGen ExAC gnomAD
rs1408573293 CA385686389	254	R>T		No	ClinGen gnomAD
TCGA novel	256	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1022257515 CA385686369	257	R>G		No	ClinGen gnomAD
CA385686357 rs1461813349	258	N>S		No	ClinGen gnomAD
CA6676795 rs757972162	259	L>V		No	ClinGen ExAC gnomAD
rs745476279 CA238392929	260	E>A		No	ClinGen ExAC TOPMed gnomAD
rs745476279 CA6676794	260	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1173209110 CA385686349	260	E>K		No	ClinGen gnomAD
rs1173209110 CA385686348	260	E>Q		No	ClinGen gnomAD
rs997547558 CA238392911	262	V>M		No	ClinGen TOPMed
rs374673461 CA6676793	263	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200011845 CA238392886	264	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs545434178 CA6676792	265	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1200630019 CA385686303	267	K>M		No	ClinGen gnomAD
CA238392878 rs112751628	267	K>N		No	ClinGen Ensembl
CA385686275 rs1238673899	269	N>K		No	ClinGen gnomAD
rs1266083554 CA385686276	269	N>S		No	ClinGen gnomAD
CA385686252 rs202190775	272	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676772 rs187119579 COSM942869	273	D>N	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs150886543 CA6676771 COSM232774	274	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs150886543 CA6676770	274	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs115523943 CA6676768 RCV000917209	274	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6676769 rs115523943	274	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6676765 rs761972220	278	E>G		No	ClinGen ExAC gnomAD
CA6676766 rs765329842	278	E>K		No	ClinGen ExAC gnomAD
rs776884130 CA6676764	282	E>*		No	ClinGen ExAC
CA6676763 rs763842476	284	K>E		No	ClinGen ExAC gnomAD
TCGA novel	285	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148344415 CA385686154	287	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs150503078 CA6676761	287	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1468966270	287	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148344415 CA6676762	287	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676757 rs770588294	290	K>*		No	ClinGen ExAC TOPMed gnomAD
CA6676758 rs770588294	290	K>E		No	ClinGen ExAC TOPMed gnomAD
rs938502856 CA238391423	291	R>K		No	ClinGen Ensembl
rs1592983181 CA385686119	292	K>T		No	ClinGen Ensembl
rs984167569 CA238391413	294	T>I		No	ClinGen TOPMed gnomAD
CA385686100 rs373179942	295	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676755 rs373179942	295	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369140816 CA6676754	297	K>E		No	ClinGen ESP ExAC gnomAD
rs780285925 CA6676752	299	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs375996285 CA6676753	299	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA385686067 rs1439600940	300	R>W		No	ClinGen TOPMed
CA6676750 rs200965515	301	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs778938836 CA6676749	302	G>R		No	ClinGen ExAC gnomAD
rs1416079397 CA385686030	304	V>M		No	ClinGen gnomAD
CA6676728 rs777723960	305	N>Y		No	ClinGen ExAC gnomAD
CA238391081 rs1019779951	306	S>C		No	ClinGen gnomAD
CA6676725 COSM942867 rs199978839	307	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA385686003 rs1189459050	308	Y>F		No	ClinGen gnomAD
CA6676724 rs759291865	310	A>T		No	ClinGen ExAC gnomAD
rs751538537 CA6676723	311	K>R		No	ClinGen ExAC gnomAD
CA6676722 rs367866436	314	S>N		No	ClinGen ESP ExAC gnomAD
rs762987152 CA6676721	314	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6676718 rs376809711	315	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs764673713 CA6676719	315	P>S		No	ClinGen ExAC gnomAD
CA6676720 rs764673713	315	P>T		No	ClinGen ExAC gnomAD
rs1416447633 CA385685957	316	A>T		No	ClinGen TOPMed
rs1341919638 CA385685950	317	Q>E		No	ClinGen gnomAD
CA385685947 rs1275885238	317	Q>R		No	ClinGen TOPMed gnomAD
rs776183237 CA6676717	320	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6676716 rs372200649	324	A>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	325	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6676715 rs746285675	326	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1449625747 CA385685877	327	H>R		No	ClinGen gnomAD
TCGA novel	329	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771365090 CA238390992	331	N>K		No	ClinGen ExAC TOPMed gnomAD
CA385685841 rs1205731487 CA385685842	332	M>I		No	ClinGen TOPMed
rs749829740 CA6676712	332	M>V		No	ClinGen ExAC TOPMed gnomAD
rs141277947 CA6676710	333	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777863479 CA6676711	333	P>T		No	ClinGen ExAC gnomAD
CA6676709 rs748372353	334	N>D		No	ClinGen ExAC gnomAD
rs781337618 CA6676708	335	Q>E		No	ClinGen ExAC gnomAD
CA385685823 rs1487593033	335	Q>H		No	ClinGen TOPMed
rs747255980 CA385685329	336	V>F		No	ClinGen ExAC gnomAD
rs747255980 CA6676689	336	V>I		No	ClinGen ExAC gnomAD
CA385685325 rs1446799009	337	K>*		No	ClinGen TOPMed
rs376324332 CA6676688	340	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs758306356 CA6676687	340	R>Q		No	ClinGen ExAC gnomAD
CA6676686 rs372774449	341	E>G		No	ClinGen ESP ExAC gnomAD
CA6676685 rs765142097	342	K>T		No	ClinGen ExAC TOPMed gnomAD
CA385685220 rs1194600476	345	F>S		No	ClinGen gnomAD
CA6676683 rs572174972	349	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1565777923 CA385685165	349	R>Q		No	ClinGen Ensembl
CA385685146 rs763627946	351	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA6676682 rs763627946	351	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1437283799 CA385685133	352	G>E		No	ClinGen gnomAD
rs1434315211 CA385685134	352	G>W		No	ClinGen TOPMed
rs200544846 CA6676681	353	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA385685105 rs1468677243	354	H>R		No	ClinGen gnomAD
CA238386786 rs1018013947	354	H>Y		No	ClinGen TOPMed
TCGA novel	357	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145637597 CA6676678	357	R>Q		No	ClinGen ESP ExAC gnomAD
rs138258931 CA6676679	357	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA385685055 rs1428312758	358	D>N		No	ClinGen TOPMed gnomAD
CA385685053 rs1428312758	358	D>Y		No	ClinGen TOPMed gnomAD
CA238386754 rs888079343	359	H>R		No	ClinGen Ensembl
rs773756663 CA6676677	362	Q>K		No	ClinGen ExAC gnomAD
CA385684990 rs1242799129	364	L>F		No	ClinGen TOPMed
rs1213002648 CA385684969	367	S>N		No	ClinGen gnomAD
CA6676676 rs770143574	368	N>S		No	ClinGen ExAC gnomAD
rs148910312 CA6676675	372	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs776522451 CA6676674	373	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1257712266 CA385684877	374	S>F		No	ClinGen gnomAD
rs1565777797 CA385684862	376	T>A		No	ClinGen Ensembl
CA385684843 rs1306709146	377	T>I		No	ClinGen gnomAD
CA385684846 rs1306709146	377	T>R		No	ClinGen gnomAD
rs747202684 CA6676672	378	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6676671 rs145609820	378	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs145609820 CA238386692	378	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA385684818 rs1413449860	379	S>L		No	ClinGen TOPMed
CA385684816 rs1270834699	380	E>K		No	ClinGen gnomAD
CA238386682 rs757414435	382	T>A		No	ClinGen gnomAD
rs17224810 CA6676669 VAR_034783	383	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA238386650 rs928672007	384	S>N		No	ClinGen TOPMed
rs778770358 CA6676668	384	S>R		No	ClinGen ExAC gnomAD
CA385684752 rs1456224999	385	S>C		No	ClinGen TOPMed
rs1318543140 CA385684750	385	S>T		No	ClinGen TOPMed
CA6676666 rs753839791	387	I>S		No	ClinGen ExAC gnomAD
rs535610536 CA6676667	387	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6676665 rs777245690	388	R>G		No	ClinGen ExAC gnomAD
rs755664921 CA6676664	389	A>T		No	ClinGen ExAC gnomAD
rs1453216867 CA385684653	393	A>S		No	ClinGen TOPMed
CA385684646 rs1421558165	393	A>V		No	ClinGen gnomAD
CA6676662 rs376905343	394	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1057065167 CA238386602	394	G>R		No	ClinGen Ensembl
rs747600162 CA6676644	395	D>N		No	ClinGen ExAC
CA385684433 rs1238465294	396	P>H		No	ClinGen gnomAD
CA385684437 rs1266080508	396	P>T		No	ClinGen gnomAD
rs76812427 CA385684427	397	T>I		No	ClinGen ExAC gnomAD
rs76812427 CA6676642	397	T>K		No	ClinGen ExAC gnomAD
rs199534615 CA6676640	398	S>N		No	ClinGen 1000Genomes ExAC TOPMed
CA6676639 rs147603760	399	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6676638 rs147603760	399	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774676679 CA6676633	405	C>F		No	ClinGen ExAC gnomAD
CA6676634 rs767654964	405	C>R		No	ClinGen ExAC gnomAD
rs774676679 CA6676632	405	C>Y		No	ClinGen ExAC gnomAD
CA6676631 rs770631972	406	P>A		No	ClinGen ExAC gnomAD
CA6676630 COSM3812872 rs749142526	407	S>F	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6676628 rs769652920	408	T>A		No	ClinGen ExAC TOPMed gnomAD
rs558151319 CA6676626	411	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6676625 rs754554094	412	E>G		No	ClinGen ExAC gnomAD
CA385684327 rs1463606566	413	K>E		No	ClinGen gnomAD
CA385684320 rs1392476356	414	G>R		No	ClinGen TOPMed
CA6676623 rs779813246	415	N>D		No	ClinGen ExAC gnomAD
rs757996186 CA6676622	416	I>S		No	ClinGen ExAC TOPMed gnomAD
rs757996186 CA385684303	416	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6676619 rs756636829	417	V>E		No	ClinGen ExAC TOPMed gnomAD
rs374734806 CA6676620	417	V>M		No	ClinGen ExAC TOPMed gnomAD
rs767465566 CA6676617	418	E>K		No	ClinGen ExAC gnomAD
CA385684271 rs759732289	421	P>H		No	ClinGen ExAC TOPMed gnomAD
CA385684270 rs759732289	421	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6676616 rs759732289	421	P>R		No	ClinGen ExAC TOPMed gnomAD
CA385684274 rs1385798047	421	P>S		No	ClinGen gnomAD
TCGA novel	422	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1401452753 CA385684248	424	N>T		No	ClinGen gnomAD
rs766565600 CA6676614	425	T>I		No	ClinGen ExAC TOPMed gnomAD
rs766565600 CA385684242	425	T>N		No	ClinGen ExAC TOPMed gnomAD
CA6676613 rs763166427	426	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6676612 rs772953432	426	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6676610 rs748045771	428	K>I		No	ClinGen ExAC
rs776695253 CA6676609	430	G>D		No	ClinGen ExAC gnomAD
TCGA novel	430	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385684209 rs1247174940	431	V>M		No	ClinGen TOPMed
rs1461229060 CA385684195	433	A>T		No	ClinGen gnomAD
CA238385750 rs1031506897	433	A>V		No	ClinGen Ensembl
rs866565544 CA238385731	434	P>L		No	ClinGen Ensembl
CA385684181 rs1277144846	435	T>I		No	ClinGen gnomAD
CA238385724 rs1005108021	436	I>T		No	ClinGen TOPMed gnomAD
CA238385709 rs888055333	438	V>I		No	ClinGen TOPMed gnomAD
CA6676607 rs142051216	441	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676608 rs544071019	441	R>W		No	ClinGen ExAC TOPMed gnomAD
CA385684103 rs1362638035	442	L>R		No	ClinGen gnomAD
rs779430910 CA6676606	443	A>P		No	ClinGen ExAC gnomAD
rs1435220041 CA385684082	444	W>G		No	ClinGen gnomAD
CA385684048 rs1471298478	445	D>G		No	ClinGen TOPMed gnomAD
CA385684022 rs1339746720	447	E>G		No	ClinGen gnomAD
CA6676605 rs771711670	448	N>K		No	ClinGen ExAC gnomAD
CA385683997 rs113561458	449	T>A		No	ClinGen gnomAD
rs113561458 CA238385614	449	T>P		No	ClinGen gnomAD
CA6676604 rs780412997	450	S>I		No	ClinGen ExAC gnomAD
rs1592972378 CA385683978	450	S>R		No	ClinGen Ensembl
rs868797129 CA238385602	452	D>H		No	ClinGen Ensembl
CA6676602 rs756589831	453	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6676601 rs753255200	454	Q>*		No	ClinGen ExAC gnomAD
CA238385586 rs900499781	456	Q>*		No	ClinGen TOPMed gnomAD
rs781754513 CA6676600	456	Q>H		No	ClinGen ExAC gnomAD
CA6676598 rs374046658	457	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs374046658 CA6676599	457	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377121843 CA6676596	458	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA385683887 rs377121843	458	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs750682129 CA385683849	462	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6676595 rs750682129	462	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6676593 rs761653386	463	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6676592 rs776303234	464	D>G		No	ClinGen ExAC gnomAD
rs1228408527 CA385683827	465	D>H		No	ClinGen gnomAD
rs1228408527 CA385683828	465	D>N		No	ClinGen gnomAD
CA6676589 rs768567282	466	N>H		No	ClinGen ExAC gnomAD
CA385683808 rs1359989633	467	E>A		No	ClinGen gnomAD
rs1281982983 CA385683796	469	E>K		No	ClinGen gnomAD
rs1341033749 CA385683784	470	G>V		No	ClinGen TOPMed gnomAD
rs372002035 CA6676586	471	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs775013651 CA6676587	471	D>H		No	ClinGen ExAC gnomAD
CA6676585 rs549493670	472	R>G		No	ClinGen 1000Genomes ExAC
CA6676583 rs770273322 COSM1158361	474	T>M	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs368040136 CA6676580	475	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6676581 rs144852918	475	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA385683750 rs1473390887	476	K>R		No	ClinGen TOPMed gnomAD
rs1182125740 CA385683738	478	A>T		No	ClinGen TOPMed
rs149158282 CA6676576	480	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6676578 rs758538942	480	M>L		No	ClinGen ExAC gnomAD
CA6676577 rs758538942	480	M>V		No	ClinGen ExAC gnomAD
CA385683718 rs1253071908	481	G>R		No	ClinGen gnomAD
rs762027110 CA6676574	483	Q>R		No	ClinGen ExAC gnomAD
CA385683680 rs1279821516	486	L>M		No	ClinGen gnomAD
rs760635810 CA6676571	487	D>E		No	ClinGen ExAC gnomAD
rs1183728096 CA385683674	487	D>N		No	ClinGen TOPMed
CA6676570 rs775327486	488	V>I		No	ClinGen ExAC TOPMed gnomAD
rs2306393 VAR_034784 CA6676568	489	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6676567 rs774014950	490	E>G		No	ClinGen ExAC gnomAD
rs55693165 CA385683629	493	K>N		No	ClinGen gnomAD
CA385683618 rs1325555292	495	D>G		No	ClinGen gnomAD
CA385683613 rs1406044859	496	K>E		No	ClinGen gnomAD
TCGA novel	496	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA238385351 rs974220925	497	M>I		No	ClinGen Ensembl
CA385683582 rs527239302	500	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6676565 rs527239302	500	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA385683563 rs1454485256	501	S>A		No	ClinGen gnomAD
rs762646555 CA6676548	506	S>Y		No	ClinGen ExAC gnomAD
CA6676546 rs769049634	507	S>L		No	ClinGen ExAC gnomAD
TCGA novel	508	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	510	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1352135176 CA385683412	510	G>E		No	ClinGen TOPMed
rs375228008 CA6676542	512	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369315611 CA6676543	512	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA238384208 rs73334528	513	L>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA238384202 rs73334528	513	L>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs757318790 CA6676540	516	P>S		No	ClinGen ExAC gnomAD
rs1361242297 CA385683339	517	K>Q		No	ClinGen TOPMed gnomAD
CA385683279 rs1177307449	521	L>F		No	ClinGen gnomAD
TCGA novel	521	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291322900 CA385683261	522	G>D		No	ClinGen TOPMed
CA385683244 rs1434914479	524	I>V		No	ClinGen gnomAD
CA6676539 rs749518691	525	Q>*		No	ClinGen ExAC gnomAD
CA238384170 rs200373084	528	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6676537 rs200373084	528	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs898700520 CA238384161	529	H>D		No	ClinGen gnomAD
CA6676536 rs139434642	529	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1482264476 CA385683203	530	D>A		No	ClinGen TOPMed gnomAD
CA6676535 rs372268919	533	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1211373493 CA385683182	533	T>I		No	ClinGen TOPMed gnomAD
CA385683178 rs1272767729	534	P>L		No	ClinGen gnomAD
rs754915070 CA6676534	534	P>S		No	ClinGen ExAC gnomAD
CA6676533 rs751598041	535	A>V		No	ClinGen ExAC gnomAD
CA385683146 rs1481107898	538	G>S		No	ClinGen gnomAD
CA385683140 rs1264903512	539	A>S		No	ClinGen gnomAD
CA6676519 rs748404408	539	A>V		No	ClinGen ExAC gnomAD
rs1323975020 CA385683133	540	V>G		No	ClinGen gnomAD
CA385683129 rs1477564469	541	L>S		No	ClinGen gnomAD
CA6676517 rs754862003	541	L>V		No	ClinGen ExAC gnomAD
rs751540464 CA6676516	542	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6676515 rs779795454	546	K>N		No	ClinGen ExAC gnomAD
CA6676514 rs368651309	550	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676513 rs201335077	551	A>V		No	ClinGen ExAC TOPMed gnomAD
rs2306392 VAR_034785 CA6676512	552	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761429654 CA6676511	553	E>G		No	ClinGen ExAC gnomAD
CA385683039 rs1455944236	555	R>T		No	ClinGen gnomAD
CA385683034 rs1351478474	556	K>E		No	ClinGen gnomAD
TCGA novel	557	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187945095 CA385683013	558	M>I		No	ClinGen TOPMed
rs1486798551 CA385683016	558	M>K		No	ClinGen gnomAD
rs1486798551 CA385683015	558	M>R		No	ClinGen gnomAD
CA385683007 rs1472257172	559	T>S		No	ClinGen gnomAD
CA6676509 rs753398015	560	S>F		No	ClinGen ExAC TOPMed gnomAD
CA6676508 rs201912882	561	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs759948735 CA6676507	565	E>*		No	ClinGen ExAC gnomAD
CA385682962 rs1159544980	566	T>A		No	ClinGen TOPMed
rs774714688 CA6676506	566	T>N		No	ClinGen ExAC TOPMed gnomAD
CA385682952 rs1489504419	568	K>E		No	ClinGen gnomAD
rs867267936 CA238383871	568	K>N		No	ClinGen Ensembl
rs145657396 CA6676504	569	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1398641140 CA385682941	569	N>S		No	ClinGen TOPMed
rs773121881 CA6676503	571	F>S		No	ClinGen ExAC TOPMed gnomAD
rs773121881 CA238383847	571	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1320205467 CA385694391	574	K>E		No	ClinGen gnomAD
CA385694382 rs1382767988	574	K>N		No	ClinGen gnomAD
rs1170636965 CA385694375	575	E>G		No	ClinGen gnomAD
rs539158030 CA6676467	575	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA6676466 rs747253687	576	S>I		No	ClinGen ExAC gnomAD
CA385694365 rs747253687	576	S>N		No	ClinGen ExAC gnomAD
CA385694361 CA385694359 rs1395949013	576	S>R		No	ClinGen gnomAD
CA6676465 rs370844986	577	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676462 rs376113390	577	R>H		No	ClinGen ESP TOPMed gnomAD
rs1392171866 CA385694334	579	V>L		No	ClinGen gnomAD
rs778966288 CA6676456	585	P>A		No	ClinGen ExAC TOPMed gnomAD
rs778966288 CA6676457	585	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1280614842 CA385694292	586	A>T		No	ClinGen gnomAD
CA6676455 rs757197831	587	A>V		No	ClinGen ExAC gnomAD
TCGA novel	591	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs953087206 CA238431359	592	V>D		No	ClinGen TOPMed gnomAD
CA385694227 rs1592946589	593	D>H		No	ClinGen Ensembl
rs1592946589 CA385694226	593	D>Y		No	ClinGen Ensembl
rs777297094 CA6676452	594	P>R		No	ClinGen ExAC TOPMed
CA385694202 rs1459833820	595	L>P		No	ClinGen TOPMed
rs766626150 CA385694176	598	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766626150 CA6676449	598	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6676450 rs200599940	598	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758868198 CA6676448	599	E>K		No	ClinGen ExAC gnomAD
rs1565766383 CA385694153	600	D>V		No	ClinGen Ensembl
CA238431329 rs998054470	601	S>C		No	ClinGen Ensembl
CA6676445 rs776307852	602	E>K		No	ClinGen ExAC gnomAD
COSM1363848 CA385694125 rs1205956560	603	D>G	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA6676444 rs776800683	603	D>H		No	ClinGen ExAC TOPMed gnomAD
rs776800683 CA385694129	603	D>N		No	ClinGen ExAC TOPMed gnomAD
rs377728698 CA6676443	604	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA385694119 rs1472733923	604	N>S		No	ClinGen gnomAD
TCGA novel	606	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308618223 CA385694104	606	H>R		No	ClinGen gnomAD
CA385694106 rs1565766296	606	H>Y		No	ClinGen Ensembl
CA385694096 rs1367257910	607	K>R		No	ClinGen gnomAD
CA385694097 rs1367257910	607	K>T		No	ClinGen gnomAD
rs1190441700 CA385694088	608	F>S		No	ClinGen gnomAD
rs1264660897 CA385694082	609	A>S		No	ClinGen TOPMed
rs1475740866 CA385694080	609	A>V		No	ClinGen TOPMed gnomAD
CA385694074 rs1220583225	610	E>G		No	ClinGen TOPMed
rs1203974836 CA385694063	612	T>A		No	ClinGen gnomAD
COSM107416 CA238431287 rs146069626	616	S>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1315024254 CA385694034	617	K>E		No	ClinGen gnomAD
CA385694026 rs1488689297	618	I>V		No	ClinGen TOPMed
CA238431285 rs865819199	619	P>L		No	ClinGen Ensembl
rs1017679032 CA238431281	620	K>E		No	ClinGen TOPMed
CA6676440 rs771749892	623	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1195900302 CA385693983	624	N>I		No	ClinGen gnomAD
CA6676438 rs567993551	625	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201929641 CA385693979	625	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201929641 CA6676439	625	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6676437 rs148286683	626	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs749246756 CA6676436	627	G>R		No	ClinGen ExAC gnomAD
rs1287539789 CA385693967	627	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA385693964 rs1360753937	628	Q>E		No	ClinGen TOPMed
CA238431263 rs903163276	628	Q>R		No	ClinGen TOPMed
rs1295826394 CA385693956	629	L>S		No	ClinGen TOPMed
rs144670539 CA6676433	630	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6676434 rs61740726	630	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61740726 CA6676435	630	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311877562 CA385693937	633	P>S		No	ClinGen TOPMed
CA6676432 rs780958880	634	H>P		No	ClinGen ExAC gnomAD
rs1354697488 CA385693898	638	Y>*		No	ClinGen TOPMed
CA385693902 rs1288503927	638	Y>C		No	ClinGen TOPMed
rs1391051033 CA385693889	639	W>C		No	ClinGen gnomAD
rs765715337 CA6676429	641	P>A		No	ClinGen ExAC gnomAD
rs765715337 CA385693880	641	P>T		No	ClinGen ExAC gnomAD
CA385693870 rs1216097686	642	S>F		No	ClinGen TOPMed
CA6676428 rs147627177	643	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1180512506 CA385693868	643	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1468240503 CA385693864	644	R>*		No	ClinGen gnomAD
COSM942856 rs754432610 CA6676427	644	R>Q	endometrium Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764264561 CA6676426	647	G>S		No	ClinGen ExAC gnomAD
CA6676425 rs146977411	648	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs752732485 CA6676424	649	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1422659339 CA385693795	651	D>E		No	ClinGen gnomAD
CA385693788 rs1386878601	652	P>A		No	ClinGen gnomAD
rs1418177864 CA385693769	654	F>L		No	ClinGen gnomAD
rs759710861 CA6676421	655	Q>R		No	ClinGen ExAC gnomAD
rs770762511 CA6676419	656	H>L		No	ClinGen ExAC gnomAD
CA6676418 rs200711441	657	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA238431146 rs200711441	657	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147801311 CA6676401	661	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs185107188 CA6676398	663	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751819612 CA6676399	663	M>V		No	ClinGen ExAC gnomAD
CA6676397 rs762797548 CA385693031	667	Q>H		No	ClinGen ExAC gnomAD
CA385693033 COSM1562485 rs1317251041	667	Q>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs878947704 CA238427194	670	Q>H		No	ClinGen Ensembl
CA385693010 rs1433574054	671	H>D		No	ClinGen gnomAD
CA6676395 rs773006837	671	H>Q		No	ClinGen ExAC gnomAD
CA385693009 rs1433574054	671	H>Y		No	ClinGen gnomAD
rs769707806 CA385692991	673	A>G		No	ClinGen ExAC TOPMed gnomAD
rs769707806 CA6676394	673	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6676393 rs761676572	676	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1592935457 CA385692961	677	E>D		No	ClinGen Ensembl
rs1392181355 CA385692966	677	E>K		No	ClinGen gnomAD
rs990249900 CA238425603	683	S>C		No	ClinGen TOPMed gnomAD
TCGA novel	683	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385692845 rs1218828355	686	S>P		No	ClinGen TOPMed
CA238425540 rs889263371	687	A>T		No	ClinGen Ensembl
CA6676368 rs149685902	688	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs139465924 CA6676367	688	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA385692818 rs139465924	688	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6676366 rs150921104	689	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA385692804 rs1565760534	690	A>P		No	ClinGen Ensembl
rs748685132 CA6676365	691	A>T		No	ClinGen ExAC TOPMed
rs781611290 CA6676364	693	S>G		No	ClinGen ExAC gnomAD
CA6676363 rs755493603	693	S>I		No	ClinGen ExAC gnomAD
CA385692769 rs1592931748	693	S>R		No	ClinGen Ensembl
CA6676362 rs140180238	694	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6676360 rs142940792	695	R>Q		No	ClinGen ESP ExAC gnomAD
CA6676361 rs146132026	695	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA238425468 rs1004982115	696	A>G		No	ClinGen TOPMed
rs1463073373 CA385692741	697	F>L		No	ClinGen gnomAD
rs1354682937 CA385692709	699	T>I		No	ClinGen gnomAD
CA6676359 rs750681914	700	L>P		No	ClinGen ExAC gnomAD
CA385692696 rs1592931699	701	A>S		No	ClinGen Ensembl
CA6676357 rs139660855	702	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs539072155 CA6676355	702	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539072155 CA6676356	702	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs760724040 CA6676354	703	A>T		No	ClinGen ExAC gnomAD
rs775090316 CA6676353	705	K>R		No	ClinGen ExAC
TCGA novel	706	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248696456 CA385692644	706	R>S		No	ClinGen gnomAD
rs577937993 CA6676352	709	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA385692586 rs1212340379	711	W>*		No	ClinGen gnomAD
CA238425374 rs1049176732	711	W>R		No	ClinGen TOPMed
CA6676351 rs759235456	712	G>S		No	ClinGen ExAC gnomAD

No associated diseases with Q8TC05

No regional properties for Q8TC05

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8TC05

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole	Localizes to the centriole lumen
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
centriolar satellite	A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
centriole	A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
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.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
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.

1 GO annotations of molecular function

Name	Definition
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.

2 GO annotations of biological process

Name	Definition
negative regulation of centriole replication	Any process that stops, prevents, or reduces the frequency, rate or extent of centriole replication.
retina development in camera-type eye	The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5PQN4	Mdm1	Nuclear protein MDM1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MPVRFKGLSE	YQRNFLWKKS	YLSESCNSSV	GRKYPWAGLR	SDQLGITKEP	SFISKRRVPY
70	80	90	100	110	120
HDPQISKSLE	WNGAISESNV	VASPEPEAPE	TPKSQEAEQK	DVTQERVHSL	EASRVPKRTR
130	140	150	160	170	180
SHSADSRAEG	ASDVENNEGV	TNHTPVNENV	ELEHSTKVLS	ENVDNGLDRL	LRKKAGLTVV
190	200	210	220	230	240
PSYNALRNSE	YQRQFVWKTS	KETAPAFAAN	QVFHNKSQFV	PPFKGNSVIH	ETEYKRNFKG
250	260	270	280	290	300
LSPVKEPKLR	NDLRENRNLE	TVSPERKSNK	IDDRLKLEAE	MELKDLHQPK	RKLTPWKHQR
310	320	330	340	350	360
LGKVNSEYRA	KFLSPAQYLY	KAGAWTHVKG	NMPNQVKELR	EKAEFYRKRV	QGTHFSRDHL
370	380	390	400	410	420
NQILSDSNCC	WDVSSTTSSE	GTVSSNIRAL	DLAGDPTSHK	TLQKCPSTEP	EEKGNIVEEQ
430	440	450	460	470	480
PQKNTTEKLG	VSAPTIPVRR	RLAWDTENTS	EDVQKQPGEK	EEEDDNEEEG	DRKTGKQAFM
490	500	510	520	530	540
GEQEKLDVRE	KSKADKMKEG	SDSSVSSEKG	GRLPTPKLRE	LGGIQRTHHD	LTTPAVGGAV
550	560	570	580	590	600
LVSPSKMKPP	APEQRKRMTS	QDCLETSKND	FTKKESRAVS	LLTSPAAGIK	TVDPLPLRED
610	620	630	640	650	660
SEDNIHKFAE	ATLPVSKIPK	YPTNPPGQLP	SPPHVPSYWH	PSRRIQGSLR	DPEFQHNVGK
670	680	690	700	710
ARMNNLQLPQ	HEAFNDEDED	RLSEISARSA	ASSLRAFQTL	ARAKKRKENF	WGKT