AiPD: Autoinhibited Protein Database

Q9UBD5

Gene name	ORC3 (LATHEO, ORC3L)
Protein name	Origin recognition complex subunit 3
Names	Origin recognition complex subunit Latheo
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23595
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

483-562 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

483-562 (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

11 structures for Q9UBD5

Entry ID	Method	Resolution	Chain	Position	Source
5UJ8	X-ray	600 A	A/B/C/D	1-711	PDB
5UJM	EM	1800 A	C	1-711	PDB
7CTE	EM	380 A	C	1-711	PDB
7CTF	EM	480 A	C	1-711	PDB
7CTG	EM	500 A	C	1-711	PDB
7JPO	EM	320 A	C	1-711	PDB
7JPP	EM	370 A	C	1-711	PDB
7JPQ	EM	350 A	C	1-711	PDB
7JPR	EM	400 A	C	1-711	PDB
7JPS	EM	440 A	C	1-711	PDB
AF-Q9UBD5-F1	Predicted				AlphaFoldDB

559 variants for Q9UBD5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3916920 rs751643866	3	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3916921 rs756041517	3	T>K		No	ClinGen ExAC gnomAD
CA364920341 rs1474995307	4	S>F		No	ClinGen gnomAD
CA142842040 rs929635001	4	S>T		No	ClinGen TOPMed gnomAD
CA3916923 rs375214415 COSM1754950	5	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs375214415 CA3916922	5	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA142842066 rs149941248	6	M>I		No	ClinGen ESP TOPMed gnomAD
CA3916924 rs757119067	6	M>T		No	ClinGen ExAC gnomAD
TCGA novel	7	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364920446 rs1363197754	8	K>E		No	ClinGen gnomAD
CA364922019 COSM1697621 rs1288573027	11	F>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA364922048 rs1369456470	13	F>S		No	ClinGen TOPMed
rs1240957378 CA364922088	16	N>H		No	ClinGen gnomAD
CA364922094 rs1187238280	16	N>T		No	ClinGen TOPMed
CA3916953 rs562568287	17	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201861328 CA364922152	19	K>N		No	ClinGen 1000Genomes gnomAD
rs1562313451	19	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174841055 CA364922190	21	K>N		No	ClinGen gnomAD
CA364922250 rs1482405534	25	P>A		No	ClinGen TOPMed
CA364922291 rs1334936472	26	I>R		No	ClinGen TOPMed gnomAD
rs1334936472 CA364922286	26	I>T		No	ClinGen TOPMed gnomAD
CA3916956 rs148696846	26	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs775433933 CA3916957	27	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3916958 rs775433933	27	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA364925808 rs1366131140	28	D>Y		No	ClinGen TOPMed gnomAD
CA3916981 rs769739331	29	Y>*		No	ClinGen ExAC gnomAD
CA3916980 rs747104059	29	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA142849249 rs1029289566	30	F>L		No	ClinGen TOPMed gnomAD
CA364925876 rs1463762332	31	N>I		No	ClinGen TOPMed
CA364925893 rs1197896612	32	K>*		No	ClinGen TOPMed gnomAD
CA364925891 rs1197896612	32	K>E		No	ClinGen TOPMed gnomAD
CA364925935 rs1428857738	34	K>E		No	ClinGen gnomAD
TCGA novel	35	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364925983 rs1265721268	36	E>K		No	ClinGen gnomAD
rs1007451334 CA142849251	39	D>V		No	ClinGen TOPMed
rs1562321025 CA364926094	40	S>C		No	ClinGen Ensembl
CA364926101 rs1192737375	40	S>T		No	ClinGen gnomAD
CA364926165 rs1371592946 COSM1082369	43	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA142849256 rs887451492	43	R>Q		No	ClinGen gnomAD
CA3916982 rs371874111	44	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3916984 rs142044709	45	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3916987 rs759224108	47	Y>C		No	ClinGen ExAC gnomAD
CA3916986 rs759224108	47	Y>F		No	ClinGen ExAC gnomAD
rs752230394 CA3916988	48	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1294384488 CA364926306	49	L>F		No	ClinGen gnomAD
CA142849286 rs961800465	51	W>*		No	ClinGen Ensembl
CA142849289 rs1002562002	52	Q>R		No	ClinGen Ensembl
CA3916990 rs557735173	53	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1315053569 CA364926392	53	Q>R		No	ClinGen gnomAD
CA3916991 rs200996438	55	K>N		No	ClinGen ExAC TOPMed gnomAD
rs757778253 CA3916992	56	S>P		No	ClinGen ExAC TOPMed gnomAD
rs757778253 CA364926446	56	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3916993 rs779241848	58	N>K		No	ClinGen ExAC TOPMed gnomAD
CA364926501 rs1204964656	59	E>K		No	ClinGen gnomAD
CA3917014 rs780488879	60	R>*	Variant assessed as Somatic; 4.701e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3917015 rs751673223	60	R>L		No	ClinGen ExAC gnomAD
rs751673223 CA3917016	60	R>Q		No	ClinGen ExAC gnomAD
rs980955356 CA142850394	61	L>R		No	ClinGen TOPMed gnomAD
rs1404963390 CA364927301	63	E>D		No	ClinGen gnomAD
CA3917017 rs781419477	64	E>V		No	ClinGen ExAC gnomAD
CA3917018 rs748298205	65	L>F		No	ClinGen ExAC gnomAD
CA3917019 rs770970297	66	N>D		No	ClinGen ExAC TOPMed gnomAD
CA364927352 rs1391308656	66	N>S		No	ClinGen TOPMed gnomAD
rs144040713 CA3917020	68	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	68	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364927407 rs1185564308	69	L>S		No	ClinGen gnomAD
rs1562323293 CA364927417	70	F>I		No	ClinGen Ensembl
CA364927463 rs1554236707	72	N>S		No	ClinGen Ensembl
CA364927482 rs1326069083	73	L>R		No	ClinGen gnomAD
CA3917022 rs771719506	75	E>*		No	ClinGen ExAC TOPMed gnomAD
CA142850432 rs78910923	81	H>D		No	ClinGen Ensembl
rs368053556 CA3917024	82	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs368053556 CA3917025	82	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1082370 CA3917026 rs368053556	82	S>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA364927654 rs1428353546	83	G>E		No	ClinGen TOPMed
rs761348781 CA3917027	83	G>R		No	ClinGen ExAC TOPMed gnomAD
rs371584444 CA142850475	85	Q>R		No	ClinGen ESP gnomAD
CA142850478 rs112186214	88	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA142850483 rs1007537050	90	D>Y		No	ClinGen Ensembl
rs1448837634 CA364927784	91	L>*		No	ClinGen gnomAD
CA364927795 rs1435421628	92	G>S		No	ClinGen TOPMed
CA3917030 rs201924978	93	G>S		No	ClinGen ExAC TOPMed gnomAD
rs2307365 CA142850503	94	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1467852142 CA364927837	94	Q>H		No	ClinGen gnomAD
rs2307365 VAR_014516 CA3917031	94	Q>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752027775 CA3917032	94	Q>R		No	ClinGen ExAC gnomAD
rs755239248 CA3917033 COSM3949523	95	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1354608187 CA364927877	97	L>F		No	ClinGen gnomAD
CA3917034 rs768222677	98	R>K		No	ClinGen ExAC gnomAD
TCGA novel	98	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867222080 CA142850525	100	I>V		No	ClinGen Ensembl
CA364927944 rs1260270452	101	P>T		No	ClinGen TOPMed
rs752793607 CA3917035	102	T>A		No	ClinGen ExAC TOPMed gnomAD
rs150252172 CA364927979	103	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3917036 rs150252172	103	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA364927984 rs1406129626	104	A>T		No	ClinGen gnomAD
rs1277651335 CA364927996	104	A>V		No	ClinGen TOPMed
CA3917037 rs777934350	106	V>I		No	ClinGen ExAC gnomAD
rs1344035273 CA364928045	107	L>P		No	ClinGen gnomAD
CA3917038 rs745739175	108	G>C		No	ClinGen ExAC gnomAD
CA3917064 rs769554390	109	V>M		No	ClinGen ExAC gnomAD
CA3917066 rs149010963	110	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358788635 CA364929084	117	T>A		No	ClinGen TOPMed
CA364929113 rs774881201	118	F>L		No	ClinGen ExAC TOPMed gnomAD
rs767939097 CA364929120	119	G>A		No	ClinGen ExAC TOPMed gnomAD
rs767939097 CA3917070	119	G>E		No	ClinGen ExAC TOPMed gnomAD
rs373085430 CA3917069	119	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA142852003 rs78632433	121	L>P		No	ClinGen 1000Genomes
CA3917072 rs202154049	122	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs879074350 CA142852028	123	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1387227000 CA364929182	123	E>V		No	ClinGen gnomAD
CA142852045 rs753828103	124	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3917074 rs764438571	124	A>S		No	ClinGen ExAC TOPMed gnomAD
rs753828103 CA3917075	124	A>V		No	ClinGen ExAC TOPMed gnomAD
rs2307371 CA3917076 VAR_014517	126	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs143881974 CA3917077	127	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA364929269 rs1461357448	127	N>S		No	ClinGen gnomAD
rs751436971 CA3917078	129	V>A		No	ClinGen ExAC gnomAD
CA364929325 COSM1082371 rs1471403129	130	T>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA142852091 rs77689062	130	T>R		No	ClinGen Ensembl
rs747994639 CA3917081	132	Y>C		No	ClinGen ExAC gnomAD
rs1407711493 CA364929394	133	V>I		No	ClinGen TOPMed gnomAD
CA364929417 rs1583021348	134	V>L		No	ClinGen Ensembl
CA142852103 rs867016630	138	A>D		No	ClinGen Ensembl
rs146526621 CA3917084	139	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3917085 rs141851921	140	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364929568 rs1444274705	141	C>F		No	ClinGen gnomAD
rs1337628428 CA364929557	141	C>G		No	ClinGen gnomAD
CA364929563 rs1444274705	141	C>Y		No	ClinGen gnomAD
rs746313408 CA3917087	142	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	144	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141721711 CA364930008	144	M>K		No	ClinGen ESP ExAC gnomAD
rs141721711 CA3917101	144	M>T		No	ClinGen ESP ExAC gnomAD
CA364930031 rs1426806919 COSM1163452	145	K>N	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	148	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	148	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777454110 CA3917102	150	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1253923168 CA364930129	152	I>T		No	ClinGen gnomAD
rs1365885749 CA364930124	152	I>V		No	ClinGen TOPMed
rs1195821708 CA364930154	154	Q>R		No	ClinGen gnomAD
rs150567304 CA3917106	156	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs776137229 CA3917104	156	M>L		No	ClinGen ExAC gnomAD
CA3917105 rs778564271	156	M>R		No	ClinGen ExAC gnomAD
CA3917107 CA364930199 rs772687870	157	D>E		No	ClinGen ExAC TOPMed gnomAD
CA364930226 rs1196982905	159	C>Y		No	ClinGen gnomAD
rs1223997968 CA364930242	161	D>N		No	ClinGen TOPMed
rs888438620 CA142853286	162	I>T		No	ClinGen TOPMed gnomAD
COSM1634968 rs780663494 CA3917109	162	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA364930299 rs1583025617	165	K>E		No	ClinGen Ensembl
rs747488413 CA364930349	168	E>A		No	ClinGen ExAC TOPMed gnomAD
rs747488413 CA3917110	168	E>G		No	ClinGen ExAC TOPMed gnomAD
CA364930345 rs1167366063	168	E>Q		No	ClinGen gnomAD
CA142853330 rs112741742	170	V>A		No	ClinGen Ensembl
CA3917111 rs769004524	170	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3917112 rs61756140	171	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139602020 CA3917114	172	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364930417 rs1197862012	173	T>I		No	ClinGen TOPMed gnomAD
rs763061576 CA364930451	176	K>E		No	ClinGen ExAC gnomAD
TCGA novel	176	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763061576 CA3917116	176	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	177	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3917118 rs752584378	178	H>R		No	ClinGen ExAC TOPMed gnomAD
CA3917117 rs766476754	178	H>Y		No	ClinGen ExAC gnomAD
rs546714600 CA3917119	179	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs149324991 CA3917120 COSM421211	183	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs916529790 CA142853434	185	S>F		No	ClinGen TOPMed gnomAD
rs528908092 CA3917121	187	W>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3917122 rs756924642	188	Y>N		No	ClinGen ExAC gnomAD
CA3917123 rs778760684	189	M>T		No	ClinGen ExAC TOPMed
CA3917124 rs750127762	191	V>I		No	ClinGen ExAC gnomAD
rs779722468 CA3917126	193	Q>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	194	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364930724 rs1423119372	194	K>R		No	ClinGen TOPMed gnomAD
CA364930722 rs1423119372	194	K>T		No	ClinGen TOPMed gnomAD
rs146286747 CA3917144	195	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA364930775 rs1157923459	197	P>S		No	ClinGen gnomAD
rs1385920642 CA364930786	198	K>E		No	ClinGen gnomAD
CA142854567 rs1017305318	199	M>T		No	ClinGen TOPMed gnomAD
rs755486842 CA364930872	202	K>I		No	ClinGen ExAC TOPMed gnomAD
rs755486842 CA3917147	202	K>R		No	ClinGen ExAC TOPMed gnomAD
CA364930868 rs755486842	202	K>T		No	ClinGen ExAC TOPMed gnomAD
rs781589071 CA3917148	203	K>R		No	ClinGen ExAC gnomAD
CA3917149 rs748719892	204	R>G		No	ClinGen ExAC gnomAD
rs1336736903	204	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1284092967 CA364930905	204	R>K		No	ClinGen gnomAD
CA3917150 rs756421678	204	R>S		No	ClinGen ExAC TOPMed
rs1387004830 CA364930935	206	T>P		No	ClinGen TOPMed
rs550694781 CA364930958	207	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs550694781 CA3917151	207	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA142854592 rs770418098	208	S>N		No	ClinGen Ensembl
rs1350162756 CA364930978	208	S>R		No	ClinGen gnomAD
CA364931000 rs1562329504	209	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1023624006 CA142854599	212	S>C		No	ClinGen gnomAD
CA364931072 rs1204562644	213	P>L		No	ClinGen gnomAD
CA364931093 rs199698250	215	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199698250 CA3917153	215	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774478846 CA3917154	216	V>D		No	ClinGen ExAC TOPMed gnomAD
rs2307389 CA364931128	217	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3917156 VAR_014518 rs2307389	217	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3917157 rs776379739	218	I>T		No	ClinGen ExAC gnomAD
rs558130478 CA3917158	221	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364931220 rs1187618743	222	M>T		No	ClinGen TOPMed
rs1470718135 CA364931213	222	M>V		No	ClinGen TOPMed gnomAD
rs1176779657 CA364931264	224	S>N		No	ClinGen gnomAD
CA142854649 rs200682425	225	F>L		No	ClinGen 1000Genomes TOPMed
CA364931278 rs200682425	225	F>V		No	ClinGen 1000Genomes TOPMed
CA142854657 rs199789475	227	T>A		No	ClinGen 1000Genomes
CA3917160 rs773205281	228	K>E		No	ClinGen ExAC gnomAD
TCGA novel	230	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762680238 CA3917161	231	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1409755233 CA364931386	231	Q>R		No	ClinGen gnomAD
rs1347849141 CA364931404	232	D>G		No	ClinGen gnomAD
CA3917164 rs367552239	234	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767076705 CA3917165	236	I>L		No	ClinGen ExAC gnomAD
rs1490763129 CA364933369	239	Q>E		No	ClinGen TOPMed gnomAD
rs1054828435 CA142856662	239	Q>R		No	ClinGen TOPMed gnomAD
rs1194170230 CA364933430	240	H>P		No	ClinGen TOPMed
rs748091739 CA3917178	241	L>V		No	ClinGen ExAC gnomAD
CA3917179 rs769908185	242	H>R		No	ClinGen ExAC TOPMed gnomAD
CA3917182 rs770789905	247	I>T		No	ClinGen ExAC gnomAD
VAR_014519 CA3917181 rs2307374	247	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773825769 CA3917183	248	L>F		No	ClinGen ExAC gnomAD
rs1419610690 CA364933631	249	I>F		No	ClinGen gnomAD
CA364933638 rs1486185329	249	I>T		No	ClinGen TOPMed
rs377330226 CA142856696	250	F>L		No	ClinGen Ensembl
CA3917184 rs759240308	252	I>V		No	ClinGen ExAC TOPMed gnomAD
CA364933815 rs1270206740	254	T>I		No	ClinGen TOPMed
rs1425876598 CA364933871	255	S>C		No	ClinGen TOPMed gnomAD
CA364933863 rs1425876598	255	S>Y		No	ClinGen TOPMed gnomAD
rs1348511901 CA364933983	258	I>T		No	ClinGen gnomAD
rs1323225723 CA364933971	258	I>V		No	ClinGen gnomAD
rs766872651 CA3917186	260	H>Y		No	ClinGen ExAC gnomAD
rs752273656 CA3917187	261	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3917188 rs146446780	261	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1317280578 CA364934147	262	L>F		No	ClinGen gnomAD
CA364934176 rs1228833700	264	P>A		No	ClinGen TOPMed gnomAD
rs1288865200 CA364934193	264	P>H		No	ClinGen gnomAD
CA364934213 rs1288865200	264	P>L		No	ClinGen gnomAD
CA3917190 rs754173920	265	H>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757526059 CA364934254	265	H>L		No	ClinGen ExAC TOPMed gnomAD
rs757526059 CA3917191	265	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1186083980 CA364934309	267	V>L		No	ClinGen gnomAD
CA364934440 rs1402847650	272	C>F		No	ClinGen TOPMed gnomAD
rs758710875 CA3917195	273	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1006586511 CA142856755	273	I>T		No	ClinGen TOPMed
rs779983039 CA3917196	276	F>L		No	ClinGen ExAC gnomAD
rs1388121367 CA364934541	276	F>S		No	ClinGen gnomAD
CA364934664 rs769822458	279	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1039183958 CA142856774	281	C>Y		No	ClinGen TOPMed gnomAD
rs1376676043 CA364934737	282	K>E		No	ClinGen gnomAD
rs2307381 VAR_014520 CA3917200	287	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA142856783 rs958838465	288	V>I		No	ClinGen TOPMed
rs1442558052 CA364934884	289	L>F		No	ClinGen gnomAD
rs1336327096 CA364934915	290	D>A		No	ClinGen TOPMed
CA364934917 rs1336327096	290	D>G		No	ClinGen TOPMed
CA3917204 rs771817774	290	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3917205 rs774961991	291	K>N		No	ClinGen ExAC
CA364936645 rs1291368370	293	L>F		No	ClinGen Ensembl
CA364936717 rs1168940771	295	T>I		No	ClinGen TOPMed
CA364936723 rs768083776	296	T>A		No	ClinGen ExAC TOPMed gnomAD
rs527928246 CA3917226	296	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3917225 rs768083776	296	T>P		No	ClinGen ExAC TOPMed gnomAD
rs762210269 CA3917227 COSM143477	299	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA364936873 rs1232083608	300	F>V		No	ClinGen gnomAD
rs1272560576 CA364936917	301	K>Q		No	ClinGen gnomAD
TCGA novel	303	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3917228 rs765819889	304	E>A		No	ClinGen ExAC TOPMed gnomAD
CA3917229 rs773416807	305	K>N		No	ClinGen ExAC gnomAD
CA3917230 rs763335077	308	Q>*		No	ClinGen ExAC gnomAD
CA3917231 rs766871579	309	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	310	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs577602128 CA3917232	311	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364937349 rs1451199314	315	L>S		No	ClinGen gnomAD
CA3917233 rs140577831	316	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3917234 rs767701428	317	H>R		No	ClinGen ExAC gnomAD
CA364937452 rs1169116842	319	F>S		No	ClinGen TOPMed gnomAD
CA3917237 rs778952166	321	V>A		No	ClinGen ExAC gnomAD
CA3917236 rs752880587	321	V>F		No	ClinGen ExAC gnomAD
CA3917235 rs752880587	321	V>I		No	ClinGen ExAC gnomAD
rs758144243 CA3917239	323	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3917238 rs150481408	323	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA364937564 rs1248234498	325	I>V		No	ClinGen TOPMed
CA364937603 rs1321223011	327	G>V		No	ClinGen gnomAD
CA3917242 rs746655989	328	L>V		No	ClinGen ExAC TOPMed gnomAD
rs767410534 CA142860097	329	Q>R		No	ClinGen TOPMed
rs61753612 CA3917258	332	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364939621 rs751401951	334	E>D		No	ClinGen ExAC gnomAD
rs147755470 CA3917262 COSM743926	337	Y>C	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3917261 rs754591256	337	Y>H		No	ClinGen ExAC gnomAD
rs904775797 CA142863987	340	P>T		No	ClinGen gnomAD
CA364939845 rs1395518699	342	S>G		No	ClinGen gnomAD
rs1583061468 CA364939959	345	C>F		No	ClinGen Ensembl
CA3917265 rs777152402	346	C>Y		No	ClinGen ExAC gnomAD
CA142863990 rs866479145	348	L>F		No	ClinGen TOPMed gnomAD
CA364940022 rs866479145	348	L>I		No	ClinGen TOPMed gnomAD
rs866479145 CA364940019	348	L>V		No	ClinGen TOPMed gnomAD
rs771624421 CA3917267	353	R>K		No	ClinGen ExAC gnomAD
rs1384876082	354	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364940192 rs1562343153	355	I>R		No	ClinGen Ensembl
CA3917268 rs200762592	355	I>V		No	ClinGen 1000Genomes ExAC TOPMed
CA3917269 rs760020988	356	N>D		No	ClinGen ExAC gnomAD
rs760020988 COSM1082372 CA364940200	356	N>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	357	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	358	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	358	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772598039 CA3917270	362	Q>E		No	ClinGen ExAC gnomAD
CA364940550 rs1246557652	366	I>M		No	ClinGen gnomAD
CA3917271 rs775735806	367	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3917272 rs760824021	367	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1237313402 CA364940563	368	R>C		No	ClinGen TOPMed
CA3917273 rs764172750	368	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1394807406 CA364940665	371	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776673161 CA3917294	375	Y>C		No	ClinGen ExAC gnomAD
CA3917296 rs765334013	376	V>M		No	ClinGen ExAC TOPMed gnomAD
rs774208620 CA364941097	378	K>N		No	ClinGen ExAC TOPMed gnomAD
CA364941120 rs1276753304	379	Q>E		No	ClinGen gnomAD
rs142333103 CA3917298	379	Q>L		No	ClinGen ESP ExAC TOPMed
rs767331714 CA3917299	380	A>S		No	ClinGen ExAC
CA142864431 rs201077859	381	S>P		No	ClinGen 1000Genomes
rs755759522 CA3917301	385	V>I		No	ClinGen ExAC
rs146416983 CA142864434	386	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM197873 rs146416983 CA3917302	386	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1191471227 CA364941358	387	L>P		No	ClinGen gnomAD
CA142864444 VAR_014521 rs2307372	389	T>P		No	ClinGen UniProt Ensembl dbSNP
CA3917304 rs756785812	390	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3917305 rs756785812	390	N>T		No	ClinGen ExAC TOPMed gnomAD
CA142864482 rs896169143	391	E>K		No	ClinGen TOPMed gnomAD
CA3917307 rs758883003	392	R>K		No	ClinGen ExAC gnomAD
CA364941552 rs1429677451	393	Y>H		No	ClinGen gnomAD
CA142874289 rs376650812	396	E>G		No	ClinGen ESP TOPMed gnomAD
rs371509958 CA3917325	398	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA364943753 rs1268386118	399	Q>P		No	ClinGen gnomAD
rs1311746066 CA364943774	400	L>S		No	ClinGen gnomAD
CA3917329 rs747585300	404	N>K		No	ClinGen ExAC TOPMed gnomAD
rs755232597 CA3917330	406	H>N		No	ClinGen ExAC TOPMed gnomAD
rs755232597 CA364943870	406	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA3917332 rs748356726	407	V>G		No	ClinGen ExAC gnomAD
rs781551516 CA3917331	407	V>I		No	ClinGen ExAC gnomAD
rs770069208 CA3917334	408	Y>C		No	ClinGen ExAC gnomAD
rs770069208 CA3917333	408	Y>F		No	ClinGen ExAC gnomAD
CA3917335 rs749375844	409	H>R		No	ClinGen ExAC TOPMed gnomAD
CA364943964 rs1323548943	411	N>S		No	ClinGen gnomAD
CA364944021 rs1326692404	415	V>I		No	ClinGen TOPMed
rs887993136 CA142874363	417	R>G		No	ClinGen Ensembl
rs1207619157 CA364944054	417	R>K		No	ClinGen gnomAD
CA3917337 rs775249291	419	L>R		No	ClinGen ExAC gnomAD
rs543601779 CA3917338	420	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776623223 CA3917340	420	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs768510660 CA3917339	420	H>R		No	ClinGen ExAC TOPMed gnomAD
rs765035200 CA3917342	422	F>V		No	ClinGen ExAC gnomAD
rs1321259555 CA364944180	423	T>A		No	ClinGen TOPMed
CA364944176 rs1321259555	423	T>P		No	ClinGen TOPMed
rs1437203561 CA364944206	424	S>C		No	ClinGen TOPMed
TCGA novel	424	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364944224 rs1283364699	425	S>C		No	ClinGen gnomAD
CA3917343 rs138599697	426	L>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	427	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364944313 rs1562357495	429	Y>C		No	ClinGen Ensembl
CA364944328 rs1229812275	430	P>A		No	ClinGen gnomAD
rs762332948 CA3917344	430	P>L		No	ClinGen ExAC TOPMed gnomAD
CA364944325 rs1229812275	430	P>S		No	ClinGen gnomAD
rs753491827 CA3917345	433	R>*		No	ClinGen ExAC gnomAD
COSM1082374 CA3917346 rs751955777	433	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA142874460 rs942044098	434	Q>R		No	ClinGen TOPMed
CA3917365 rs768061137	436	R>K		No	ClinGen ExAC gnomAD
rs1156725054 CA364945734	436	R>S		No	ClinGen TOPMed
rs1251558869 CA364945748	437	E>Q		No	ClinGen gnomAD
CA142875776 rs913424241	438	L>F		No	ClinGen TOPMed
CA3917366 rs753224272	439	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA142875781 rs201209204	440	C>R		No	ClinGen Ensembl
rs1247331275 CA364945872	441	T>K		No	ClinGen gnomAD
rs1477765866 CA364945902	442	C>Y		No	ClinGen gnomAD
rs1171869136 CA364945978	444	E>G		No	ClinGen gnomAD
CA3917367 rs756429593	447	I>M		No	ClinGen ExAC gnomAD
rs139108147 CA3917368	448	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1562359225 CA364946093	449	D>N		No	ClinGen Ensembl
rs753947077 CA3917369	449	D>V		No	ClinGen ExAC TOPMed gnomAD
rs906121459 CA142875799	450	S>L		No	ClinGen TOPMed
rs757554841 CA3917370	451	E>G		No	ClinGen ExAC gnomAD
rs1369786633 CA364946124	451	E>K		No	ClinGen gnomAD
rs1325165409 CA364946170	452	E>D		No	ClinGen TOPMed gnomAD
CA142875808 rs933833241	458	Q>E		No	ClinGen Ensembl
rs143108637 CA3917372	458	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1367901108 CA364946339	461	R>K		No	ClinGen gnomAD
rs1367901108 CA364946341	461	R>T		No	ClinGen gnomAD
rs1185554642 CA364929961	463	L>W		No	ClinGen gnomAD
CA3917391 rs371508516	464	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA364929969 rs1472715295	465	K>Q		No	ClinGen gnomAD
rs148245971 CA3917392	467	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3917393 rs528704282	469	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA364930035 rs1296121331	470	T>A		No	ClinGen TOPMed gnomAD
CA364930056 rs1562376333	471	I>T		No	ClinGen Ensembl
CA3917394 rs748085868	472	L>P		No	ClinGen ExAC gnomAD
CA364930074 rs1282293303	473	E>Q		No	ClinGen TOPMed
CA364930104 rs756189264	475	C>R		No	ClinGen ExAC gnomAD
rs756189264 CA3917395	475	C>S		No	ClinGen ExAC gnomAD
rs1213134647 CA364930108	475	C>Y		No	ClinGen TOPMed
rs1310276372 CA364930126	476	F>L		No	ClinGen gnomAD
CA3917396 rs777400116	476	F>L		No	ClinGen ExAC gnomAD
TCGA novel	480	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs939207561 CA142892703	480	K>T		No	ClinGen TOPMed
CA142892706 rs9353493	481	S>F		No	ClinGen Ensembl
CA3917400 rs770654226	483	C>Y		No	ClinGen ExAC gnomAD
CA142892712 rs202114121	484	E>G		No	ClinGen 1000Genomes
CA364930231 rs1296723984	484	E>K		No	ClinGen TOPMed
rs774015220 CA3917401	486	H>Y		No	ClinGen ExAC gnomAD
rs745522165 CA3917402	490	T>I		No	ClinGen ExAC TOPMed gnomAD
rs547254849 CA142892717	491	A>T		No	ClinGen 1000Genomes
COSM743924 CA364930350 rs1359199708	492	K>N	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	493	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3917403 rs771512286	493	R>K		No	ClinGen ExAC gnomAD
rs775035909 CA3917404	497	F>L		No	ClinGen ExAC gnomAD
rs540832273 CA3917406	499	A>T		No	ClinGen ExAC gnomAD
rs916515545 CA142892726	499	A>V		No	ClinGen TOPMed gnomAD
CA142892730 rs946552326	502	Q>P		No	ClinGen Ensembl
rs146268634 CA3917409 COSM1082376	503	S>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs750618137 CA3917410	503	S>R		No	ClinGen ExAC gnomAD
rs758755080 CA3917411	505	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA364930534 rs1433408780	506	E>K		No	ClinGen gnomAD
CA364931536 rs1364693991	507	T>P		No	ClinGen TOPMed
rs1299802807 CA364931567	508	K>R		No	ClinGen gnomAD
CA364931581 rs1213732689	509	E>Q		No	ClinGen gnomAD
CA3917428 rs200525076	510	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs763237561 CA3917430	511	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1435651467 CA364931680	512	D>A		No	ClinGen TOPMed
CA3917431 rs369225174	513	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3917432 rs369225174	513	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs199578553 CA142893568	513	A>V		No	ClinGen 1000Genomes
CA3917435 rs199748447	517	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA364931794 rs1249143374	518	P>S		No	ClinGen gnomAD
rs1289008126 CA364931809	519	K>Q		No	ClinGen TOPMed
CA3917437 rs757197499	520	G>R		No	ClinGen ExAC gnomAD
CA364931851 rs1442755218	521	L>F		No	ClinGen gnomAD
CA364931908 rs1278676406	524	T>S		No	ClinGen TOPMed
CA364931942 rs1165417519	525	D>V		No	ClinGen gnomAD
rs1236615395 CA364931997	527	Y>C		No	ClinGen TOPMed
rs1424613858 CA364932033	529	L>F		No	ClinGen gnomAD
rs778671239 CA3917438	529	L>P		No	ClinGen ExAC gnomAD
CA3917439 rs750255923	530	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs771364528 CA3917468	532	S>A		No	ClinGen ExAC TOPMed gnomAD
CA142893758 rs138153363	532	S>Y		No	ClinGen ESP
rs1373466873 CA364932289	535	E>G		No	ClinGen TOPMed gnomAD
rs1431219558 CA364932883	536	M>L		No	ClinGen gnomAD
CA142893764 rs1027997906	538	E>V		No	ClinGen TOPMed
rs772220228 CA3917471	540	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772220228 CA364932994	540	R>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	541	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364933091 rs1583164534	543	K>*		No	ClinGen Ensembl
rs1583164545 CA364933111	543	K>M		No	ClinGen Ensembl
CA142893767 rs967458110	544	K>R		No	ClinGen Ensembl
CA3917472 rs775615229	546	T>I		No	ClinGen ExAC gnomAD
rs760618481 CA3917473	550	V>L		No	ClinGen ExAC
CA3917474 rs142321378	552	R>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	553	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364933498 rs1299028818	554	N>I		No	ClinGen TOPMed
rs773079986 CA3917475	559	I>T		No	ClinGen ExAC gnomAD
rs1278629520 CA364933722	560	D>Y		No	ClinGen gnomAD
rs1344809218 CA364933759	561	C>R		No	ClinGen gnomAD
CA364935854 rs1582090256	566	Y>*		No	ClinGen Ensembl
CA364935845 rs1582090234	566	Y>S		No	ClinGen Ensembl
rs920408105 CA142894774	567	L>V		No	ClinGen Ensembl
CA364935937 rs1251020760	570	P>A		No	ClinGen TOPMed gnomAD
CA364935934 rs1251020760	570	P>S		No	ClinGen TOPMed gnomAD
CA364936022 rs774368487	573	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs774368487 CA3917495	573	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1193566667 CA364936061	574	P>L		No	ClinGen gnomAD
CA364936093 rs1474220519	576	H>D		No	ClinGen TOPMed gnomAD
CA364936108 rs767350523	576	H>L		No	ClinGen ExAC TOPMed gnomAD
rs767350523 CA364936099	576	H>P		No	ClinGen ExAC TOPMed gnomAD
CA3917497 rs767350523	576	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	578	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364936176 rs1582090424	578	V>G		No	ClinGen Ensembl
rs755887423 CA3917499	579	V>A		No	ClinGen ExAC gnomAD
rs755887423 CA364936213	579	V>G		No	ClinGen ExAC gnomAD
rs1582090488 CA364936300	582	S>G		No	ClinGen Ensembl
CA3917501 rs753438783	584	A>T		No	ClinGen ExAC gnomAD
CA364936380 rs1318069736	585	H>R		No	ClinGen TOPMed gnomAD
rs771689518 CA3917502	586	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3917503 VAR_014522 rs2307370	588	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs750968797 CA3917504	588	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758621249 CA3917505	589	E>K		No	ClinGen ExAC gnomAD
CA364936525 rs1341652163	593	A>S		No	ClinGen TOPMed gnomAD
CA3917507 rs61747273	595	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364936575 rs1260741878	596	R>*		No	ClinGen gnomAD
rs781229815 CA3917510	596	R>L		No	ClinGen ExAC TOPMed gnomAD
rs781229815 CA3917509	596	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3917511 rs572797674	599	L>V		No	ClinGen ExAC TOPMed gnomAD
rs774091388 CA3917512	600	H>R		No	ClinGen ExAC gnomAD
rs1227688214 CA364936689	601	T>I		No	ClinGen TOPMed
rs759532610 CA3917513	603	L>F		No	ClinGen ExAC gnomAD
rs771749853 CA3917514	604	N>H		No	ClinGen ExAC gnomAD
rs775491363 CA3917515	605	N>S		No	ClinGen ExAC TOPMed gnomAD
rs763886530 CA3917517 COSM1487976	608	Y>C	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1354995328 CA364936879	609	Y>*		No	ClinGen gnomAD
rs375586431 CA3917519	611	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA364936962 rs1330981442	611	K>N		No	ClinGen TOPMed
rs769706558 CA3917529	613	E>K		No	ClinGen ExAC gnomAD
rs1194082022 CA364938113	615	L>P		No	ClinGen TOPMed
CA142895202 rs986393914	617	S>N		No	ClinGen Ensembl
rs370143904 CA3917531	618	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs139494209 CA364938215	620	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139494209 CA3917532	620	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775401785 CA3917533	621	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs930774313 CA142895214	623	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA142895211 rs942451218	623	P>S		No	ClinGen Ensembl
CA3917536 rs28381545 VAR_020656	626	A>T		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs201741907 CA142895227	627	P>L		No	ClinGen 1000Genomes
CA3917538 rs764651822	628	D>A		No	ClinGen ExAC gnomAD
rs761537216 CA3917537	628	D>N		No	ClinGen ExAC gnomAD
CA142895235 rs944953670	632	A>T		No	ClinGen TOPMed
CA364938507 rs537346696	633	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1194853382 CA364938488	633	Y>H		No	ClinGen gnomAD
CA3917542 rs752093687	636	H>Q		No	ClinGen ExAC gnomAD
rs930914918 CA142895254	643	I>S		No	ClinGen Ensembl
rs756424569 CA3917546	646	V>M		No	ClinGen ExAC TOPMed gnomAD
rs777681403 CA3917547	647	D>H		No	ClinGen ExAC gnomAD
rs374112561 CA142895487	651	A>S		No	ClinGen ESP TOPMed gnomAD
CA364939043 rs374112561	651	A>T		No	ClinGen ESP TOPMed gnomAD
rs762489164 CA3917558	652	F>I		No	ClinGen ExAC gnomAD
CA142895495 rs962319316	652	F>S		No	ClinGen Ensembl
TCGA novel	653	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs995425127 CA142895498	654	T>A		No	ClinGen TOPMed
CA364939171 rs1367858083	654	T>I		No	ClinGen TOPMed
TCGA novel	655	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774784275 CA3917560	657	T>A		No	ClinGen ExAC gnomAD
CA364939261 rs1218602181	658	A>T		No	ClinGen gnomAD
CA364939308 rs1485717897	659	A>D		No	ClinGen gnomAD
rs760095466 CA3917561	659	A>S		No	ClinGen ExAC gnomAD
CA3917562 rs767862704	660	E>G		No	ClinGen ExAC gnomAD
rs1259789113 CA364939363	661	K>R		No	ClinGen gnomAD
rs1423576659 CA364939369	662	M>L		No	ClinGen TOPMed
rs1423576659 CA364939377	662	M>V		No	ClinGen TOPMed
TCGA novel	662	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1383040746 CA364939420	663	D>V		No	ClinGen TOPMed
rs148557057 CA3917563	667	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA364939615 rs1470216521	668	T>A		No	ClinGen TOPMed
rs1161270519 CA364939759	672	M>I		No	ClinGen gnomAD
rs1179577332 CA364939733	672	M>V		No	ClinGen TOPMed
rs754035512 CA3917566	673	N>D		No	ClinGen ExAC gnomAD
TCGA novel	674	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	676	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364939892 rs1203272664	676	I>S		No	ClinGen TOPMed gnomAD
COSM1082378 rs188446659 CA3917582	679	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA364941293 rs1238697733	679	R>W		No	ClinGen gnomAD
CA364941379 rs1276724070	683	A>T		No	ClinGen gnomAD
CA364941394 rs1363565327	683	A>V		No	ClinGen TOPMed
CA142895981 rs977840958	693	I>V		No	ClinGen TOPMed
CA3917586 rs754030896	695	P>L		No	ClinGen ExAC gnomAD
CA3917585 rs764365816	695	P>S		No	ClinGen ExAC gnomAD
rs761797608 CA142895989	697	K>R		No	ClinGen TOPMed gnomAD
rs146518052 CA142895993	698	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3917588 rs146518052	698	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1562391023 CA364941835	701	D>N		No	ClinGen Ensembl
CA364941886 rs1171786443	703	V>G		No	ClinGen gnomAD
rs750581600 CA3917589	707	T>I		No	ClinGen ExAC gnomAD
rs998630524 CA142896007	708	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1386952429 CA364941963	709	G>E		No	ClinGen TOPMed
CA364942004 rs1441833224	711	C>F		No	ClinGen TOPMed
rs1441833224 CA364942000	711	C>Y		No	ClinGen TOPMed

No associated diseases with Q9UBD5

3 regional properties for Q9UBD5

Type	Name	Position	InterPro Accession
domain	Origin recognition complex subunit 3, winged helix C-terminal	596 - 708	IPR040855
domain	Origin recognition complex subunit 3, insertion domain	355 - 585	IPR045663
domain	Origin recognition complex subunit 3, N-terminal	18 - 344	IPR045667

Functions

		Description
EC Number
Subcellular Localization	Nucleus Chromosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
DNA replication preinitiation complex	A protein-DNA complex assembled at eukaryotic DNA replication origins immediately prior to the initiation of DNA replication. The preinitiation complex is formed by the assembly of additional proteins onto an existing prereplicative complex. In budding yeast, the additional proteins might include Cdc45p, Sld2p, Sld3p, Dpb11p, DNA polymerases, and others; in fission yeast the GINS complex is present.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nuclear origin of replication recognition complex	A multisubunit complex that is located at the replication origins of a chromosome in the nucleus.
nuclear pre-replicative complex	A protein-DNA complex assembled at eukaryotic DNA replication origins during late mitosis and G1, allowing the origin to become competent, or 'licensed', for replication. The complex normally includes the origin recognition complex (ORC), Cdc6, Cdt1 and the MiniChromosome Maintenance (Mcm2-7) proteins.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
origin recognition complex	A multisubunit complex that is located at the replication origins of a chromosome.

1 GO annotations of molecular function

Name	Definition
DNA replication origin binding	Binding to a DNA replication origin, a unique DNA sequence of a replicon at which DNA replication is initiated and proceeds bidirectionally or unidirectionally.

5 GO annotations of biological process

Name	Definition
DNA replication	The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
DNA replication initiation	The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate.
glial cell proliferation	The multiplication or reproduction of glial cells by cell division, resulting in the expansion of their population. Glial cells exist throughout the nervous system, and include Schwann cells, astrocytes, and oligodendrocytes among others.
neural precursor cell proliferation	The multiplication or reproduction of neural precursor cells, resulting in the expansion of a cell population. A neural precursor cell is either a nervous system stem cell or a nervous system progenitor cell.
regulation of DNA replication	Any process that modulates the frequency, rate or extent of DNA replication.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q32PJ3	ORC3	Origin recognition complex subunit 3	Bos taurus (Bovine)	PR
Q9JK30	Orc3	Origin recognition complex subunit 3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MATSSMSKGC	FVFKPNSKKR	KISLPIEDYF	NKGKNEPEDS	KLRFETYQLI	WQQMKSENER
70	80	90	100	110	120
LQEELNKNLF	DNLIEFLQKS	HSGFQKNSRD	LGGQIKLREI	PTAALVLGVN	VTDHDLTFGS
130	140	150	160	170	180
LTEALQNNVT	PYVVSLQAKD	CPDMKHFLQK	LISQLMDCCV	DIKSKEEESV	HVTQRKTHYS
190	200	210	220	230	240
MDSLSSWYMT	VTQKTDPKML	SKKRTTSSQW	QSPPVVVILK	DMESFATKVL	QDFIIISSQH
250	260	270	280	290	300
LHEFPLILIF	GIATSPIIIH	RLLPHAVSSL	LCIELFQSLS	CKEHLTTVLD	KLLLTTQFPF
310	320	330	340	350	360
KINEKVLQVL	TNIFLYHDFS	VQNFIKGLQL	SLLEHFYSQP	LSVLCCNLPE	AKRRINFLSN
370	380	390	400	410	420
NQCENIRRLP	SFRRYVEKQA	SEKQVALLTN	ERYLKEETQL	LLENLHVYHM	NYFLVLRCLH
430	440	450	460	470	480
KFTSSLPKYP	LGRQIRELYC	TCLEKNIWDS	EEYASVLQLL	RMLAKDELMT	ILEKCFKVFK
490	500	510	520	530	540
SYCENHLGST	AKRIEEFLAQ	FQSLDETKEE	EDASGSQPKG	LQKTDLYHLQ	KSLLEMKELR
550	560	570	580	590	600
RSKKQTKFEV	LRENVVNFID	CLVREYLLPP	ETQPLHEVVY	FSAAHALREH	LNAAPRIALH
610	620	630	640	650	660
TALNNPYYYL	KNEALKSEEG	CIPNIAPDIC	IAYKLHLECS	RLINLVDWSE	AFATVVTAAE
670	680	690	700	710
KMDANSATSE	EMNEIIHARF	IRAVSELELL	GFIKPTKQKT	DHVARLTWGG	C