AiPD: Autoinhibited Protein Database

Q7L590

Gene name	MCM10 (PRO2249)
Protein name	Protein MCM10 homolog
Names	HsMCM10
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55388
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

176-249 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

176-249 (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 Q7L590

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7L590-F1	Predicted				AlphaFoldDB

775 variants for Q7L590

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5411472 VAR_085769 rs746874909	427	R>C	IMD80; no effect on the formation of the replisome [UniProt]	Yes	ClinGen ExAC TOPMed gnomAD UniProt
VAR_085770	583	R>del	IMD80; cell cycle defect and replication stress in patient-derived cells; loss of nuclear localization [UniProt]	Yes	UniProt
CA5411082 rs748336688	2	D>G		No	ClinGen ExAC gnomAD
rs745816813 CA5411106	6	D>A		No	ClinGen ExAC gnomAD
CA5411105 rs781001939	6	D>H		No	ClinGen ExAC gnomAD
rs571506868 CA203260183	7	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA376030971 rs1385861603	8	L>V		No	ClinGen TOPMed gnomAD
rs1452408119 CA376030976	9	S>P		No	ClinGen gnomAD
CA5411108 rs185467446	13	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA376031001 rs1588466112	13	A>V		No	ClinGen Ensembl
rs1160434802 CA376031040	19	E>G		No	ClinGen TOPMed
CA376031049 rs1384377053	20	S>L		No	ClinGen gnomAD
CA5411110 rs768359462	21	A>G		No	ClinGen ExAC gnomAD
rs1421289437 CA376031052	21	A>S		No	ClinGen TOPMed
CA376031054 rs768359462	21	A>V		No	ClinGen ExAC gnomAD
rs761411737 CA5411113	23	D>N		No	ClinGen ExAC gnomAD
rs761411737 CA5411112	23	D>Y		No	ClinGen ExAC gnomAD
CA376031070 rs1295344385	24	C>R		No	ClinGen gnomAD
rs1327235451 CA376031077	25	N>D		No	ClinGen gnomAD
TCGA novel	25	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376031133 rs1198616721	32	L>S		No	ClinGen gnomAD
CA203260219 rs952899937	33	T>M		No	ClinGen Ensembl
CA376031142 rs765768942	34	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5411117 rs150335901	34	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5411116 rs765768942	34	R>W		No	ClinGen ExAC TOPMed gnomAD
rs137855341 CA203260236	36	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751863559 CA5411120	38	E>K		No	ClinGen ExAC gnomAD
rs751863559 CA5411121	38	E>Q		No	ClinGen ExAC gnomAD
rs867265579 CA203260251	39	P>L		No	ClinGen Ensembl
CA376031174 rs1239080381	39	P>S		No	ClinGen TOPMed
CA376031177 rs1018504619	40	D>H		No	ClinGen TOPMed
rs1018504619 CA203260255	40	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5411122 rs148825592	41	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148825592 CA5411123	41	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA203260275 rs199575662	42	F>L		No	ClinGen Ensembl
CA376031205 rs1364975184	44	E>*		No	ClinGen gnomAD
CA5411124 rs769692037	45	L>I		No	ClinGen ExAC gnomAD
rs780031747 CA5411125	46	F>V		No	ClinGen ExAC TOPMed gnomAD
rs768161451 CA203260281	47	D>E		No	ClinGen ExAC
rs1415768414 CA376031235	48	A>V		No	ClinGen gnomAD
CA5411130 rs761499773	49	D>N		No	ClinGen ExAC TOPMed gnomAD
rs373516087 CA5411131	50	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5411134 rs546875897	51	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533521913 CA5411133	51	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5411136 rs763512324	52	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5411135 rs753259372	52	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA376031267 rs1435090602	54	S>P		No	ClinGen gnomAD
CA376031284 rs1480117898	56	T>R		No	ClinGen gnomAD
rs567096365 CA5411139	58	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5411140 rs781473286	60	D>N		No	ClinGen ExAC TOPMed gnomAD
CA376031322 rs1430943803	62	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	63	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376031365 rs141967915	68	R>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5411141 rs141967915	68	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs146076863 CA5411142	69	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1175956108 CA376031378	70	E>G		No	ClinGen gnomAD
rs779760770 CA5411143	70	E>K	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5411144 rs749257083	71	K>E		No	ClinGen ExAC TOPMed gnomAD
CA203260373 rs959165879	72	E>K		No	ClinGen Ensembl
rs1461719150 CA376031397	73	N>D		No	ClinGen gnomAD
rs754885504 CA5411145	74	L>M		No	ClinGen ExAC TOPMed gnomAD
CA376031408 rs1375709071	75	A>T		No	ClinGen gnomAD
CA5411146 rs778430095	77	L>V		No	ClinGen ExAC TOPMed gnomAD
rs747649256 CA5411147	79	G>R		No	ClinGen ExAC gnomAD
rs1339182322 CA376031450	81	M>T		No	ClinGen TOPMed
CA5411148 rs771678734	82	E>G		No	ClinGen ExAC gnomAD
TCGA novel	83	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA203260404 rs765262535	89	E>K		No	ClinGen Ensembl
rs1204860753 CA376031516	90	V>F		No	ClinGen gnomAD
rs746574568 CA5411151	91	P>A		No	ClinGen ExAC gnomAD
CA203260410 rs746574568	91	P>T		No	ClinGen ExAC gnomAD
CA5411154 rs763605786	92	A>E		No	ClinGen ExAC gnomAD
CA5411153 rs374001594	92	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376031527 rs763605786	92	A>V		No	ClinGen ExAC gnomAD
CA5411155 rs773303055	93	S>P		No	ClinGen ExAC gnomAD
CA203260446 rs773303055	93	S>T		No	ClinGen ExAC gnomAD
CA5411156 rs370844035	95	S>L		No	ClinGen ESP ExAC gnomAD
rs761943855 CA5411157	98	N>D		No	ClinGen ExAC TOPMed gnomAD
CA5411158 rs373953435	101	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376031580 rs373953435	101	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5411159 rs376103544	102	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs61752697 CA203260472	103	A>S		No	ClinGen Ensembl
rs766208227 CA5411161	104	P>S		No	ClinGen ExAC gnomAD
CA376031603 rs1268339767	105	A>V		No	ClinGen gnomAD
rs753597116 CA376031606	106	P>A		No	ClinGen ExAC gnomAD
rs753597116 CA5411162	106	P>S		No	ClinGen ExAC gnomAD
CA376031610 rs1478511634	107	R>G		No	ClinGen TOPMed
CA376031616 rs1297380933	107	R>S		No	ClinGen gnomAD
rs778805798 CA5411164	108	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5411165 rs374155592	108	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374155592 CA5411166	108	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1324465808 CA376031631	110	K>R		No	ClinGen gnomAD
CA5411167 rs777105319	111	T>M		No	ClinGen ExAC gnomAD
CA376031644 rs1275241741	112	N>S		No	ClinGen gnomAD
rs776039399 CA5411170	114	E>G		No	ClinGen ExAC gnomAD
rs1484889218 CA376031697	117	E>D		No	ClinGen TOPMed gnomAD
CA376031726 rs1187588210	121	N>K		No	ClinGen gnomAD
CA203261071 rs533601206	123	Q>H		No	ClinGen gnomAD
CA376031739 rs1316666686	123	Q>R		No	ClinGen TOPMed
CA203261072 rs985106634	124	E>K		No	ClinGen gnomAD
TCGA novel	126	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376031758 rs1407296804	126	M>V		No	ClinGen gnomAD
CA376031770 rs764944653	127	K>R		No	ClinGen ExAC gnomAD
rs764944653 CA5411183	127	K>T		No	ClinGen ExAC gnomAD
rs1251222657 CA376031787	130	Q>*		No	ClinGen TOPMed
rs775119908 CA203261084	133	L>P		No	ClinGen gnomAD
VAR_030771 rs17152897 CA5411187	134	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757037376 CA5411188	135	V>G		No	ClinGen ExAC gnomAD
CA376031837 rs1384727466	137	T>I		No	ClinGen TOPMed
CA5411189 rs182611060	138	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745462867 CA5411190	140	Q>*		No	ClinGen ExAC gnomAD
rs745462867 CA5411191	140	Q>E		No	ClinGen ExAC gnomAD
rs1350743095 CA376031863	141	T>I		No	ClinGen gnomAD
rs779109062 CA5411192	142	A>G		No	ClinGen ExAC gnomAD
CA376031864 rs1224885927	142	A>T		No	ClinGen gnomAD
rs921312452 CA203261099	144	P>L		No	ClinGen TOPMed gnomAD
rs748713901 CA5411194	144	P>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA203261101 rs367729297	146	R>C		No	ClinGen ESP gnomAD
rs199650792 CA5411195	146	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	148	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376031914 rs1180502335	150	S>A		No	ClinGen gnomAD
rs770936196 CA5411198	150	S>C		No	ClinGen ExAC gnomAD
rs1167233728 CA376031919	151	P>L		No	ClinGen TOPMed
rs372201248 CA203261118	151	P>S		No	ClinGen Ensembl
CA376031938 rs1396552176	152	V>A		No	ClinGen TOPMed
TCGA novel	153	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474302411 CA376031955	154	K>R		No	ClinGen gnomAD
rs147326849 CA5411213	156	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5411214 rs369328380	157	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA376031971 rs1564381983	157	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5411216 rs771029976	159	P>L		No	ClinGen ExAC TOPMed gnomAD
CA376031984 rs771029976	159	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5411217 rs141445340	164	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160713035 CA376032025	165	V>D		No	ClinGen TOPMed
CA203261177 rs1013340047	166	Q>*		No	ClinGen Ensembl
rs759801458 CA5411218	167	R>G		No	ClinGen ExAC gnomAD
CA376032071 rs1008812185	172	T>K		No	ClinGen TOPMed
CA203261188 rs1008812185	172	T>R		No	ClinGen TOPMed
rs1225700543 CA376032073	173	C>S		No	ClinGen gnomAD
rs769876866 CA5411219	176	A>T		No	ClinGen ExAC gnomAD
rs775423373 CA5411220	176	A>V		No	ClinGen ExAC TOPMed gnomAD
CA376032102 rs763892001	177	E>A		No	ClinGen ExAC TOPMed gnomAD
rs763892001 CA5411222	177	E>V		No	ClinGen ExAC TOPMed gnomAD
rs761806065 CA5411224	178	L>F		No	ClinGen ExAC gnomAD
rs375765384 CA5411225	179	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288555880 CA376032111	179	D>N		No	ClinGen TOPMed
rs1445154574 CA376032121	180	V>D		No	ClinGen gnomAD
rs1326554964 CA376032118	180	V>I		No	ClinGen Ensembl
CA203261220 rs1006070980	181	P>A		No	ClinGen Ensembl
CA376032133 rs199687324	182	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199687324 CA5411227	182	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA376032147 rs1414047626	185	R>K		No	ClinGen TOPMed
rs1461502142 CA376032156	186	T>I		No	ClinGen gnomAD
CA376032159 rs1294704841	187	K>E		No	ClinGen gnomAD
TCGA novel	188	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376032170 rs1393528833	188	R>M		No	ClinGen gnomAD
rs753470863 CA5411229	189	V>M		No	ClinGen ExAC gnomAD
CA5411231 rs778158811	190	A>G		No	ClinGen ExAC
CA5411230 rs139480825	190	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA376032183 rs1341502187	191	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5411233 rs747534837	191	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747534837 CA5411232	191	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1291667206 CA376032192	193	P>A		No	ClinGen gnomAD
rs34630110 VAR_053836 CA5411234	195	A>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA203261239 rs982719342	197	P>L		No	ClinGen TOPMed
rs745944918 CA5411235	198	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1588467093 CA376032226	199	D>N		No	ClinGen Ensembl
CA5411261 rs773285428	201	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1381491509 CA376032269	203	S>L		No	ClinGen gnomAD
CA5411262 rs376943596	203	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs765828373 CA5411263	204	S>F		No	ClinGen ExAC gnomAD
rs1012163813 CA203262601	207	M>I		No	ClinGen TOPMed
CA203262598 rs893523668	207	M>T		No	ClinGen TOPMed
rs1435114058 CA376032299	208	T>R		No	ClinGen Ensembl
CA376032314 rs1304795686	210	A>V		No	ClinGen gnomAD
rs972437073 CA376032318	211	P>H		No	ClinGen TOPMed gnomAD
rs972437073 CA203262609	211	P>L		No	ClinGen TOPMed gnomAD
rs141567347 CA5411267	216	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA203262618 rs867869171	216	Q>R		No	ClinGen Ensembl
CA203262621 rs986158427	217	T>M		No	ClinGen TOPMed
CA5411271 rs756598324	220	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5411270 rs150895215	220	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376032380 rs1564383154	222	K>Q		No	ClinGen Ensembl
CA5411273 rs753927797	223	P>A		No	ClinGen ExAC gnomAD
CA203262643 rs371814734	224	S>G		No	ClinGen gnomAD
rs371814734 CA376032393	224	S>R		No	ClinGen gnomAD
CA5411274 rs755226197	225	G>W		No	ClinGen ExAC TOPMed gnomAD
CA5411275 rs779287740	226	I>L		No	ClinGen ExAC gnomAD
rs772021011 CA5411277	226	I>M		No	ClinGen ExAC gnomAD
rs748310370 CA5411276	226	I>T		No	ClinGen ExAC gnomAD
rs1394916525 CA376032418	228	R>T		No	ClinGen gnomAD
CA5411279 rs746966952	229	G>S		No	ClinGen ExAC gnomAD
rs376100016 CA203262665	229	G>V		No	ClinGen ESP TOPMed
rs181810061 CA5411280	231	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376032483 rs1332158839	238	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA376032481 rs1332158839	238	S>Y		No	ClinGen TOPMed gnomAD
CA5411284 rs149862883	239	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5411283 rs769236797	239	G>R		No	ClinGen ExAC gnomAD
CA376032485 rs769236797	239	G>W		No	ClinGen ExAC gnomAD
CA376032489 rs762554890	240	E>K		No	ClinGen ExAC gnomAD
CA5411285 rs762554890	240	E>Q		No	ClinGen ExAC gnomAD
rs35586085 CA5411286	241	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376032521 rs766908739	245	I>F		No	ClinGen ExAC gnomAD
rs934925657 CA203262696	245	I>T		No	ClinGen Ensembl
CA5411289 rs766908739	245	I>V		No	ClinGen ExAC gnomAD
rs1483863029 CA376032526	246	C>R		No	ClinGen TOPMed
CA203262708 rs1055151308	246	C>W		No	ClinGen TOPMed gnomAD
CA203262711 rs201435336	247	V>L		No	ClinGen 1000Genomes gnomAD
rs754237837 CA203262718	249	A>G		No	ClinGen ExAC TOPMed gnomAD
rs754237837 CA5411290	249	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA203262723 rs755108479	251	S>C		No	ClinGen ExAC gnomAD
rs755108479 CA5411291	251	S>F		No	ClinGen ExAC gnomAD
CA5411292 rs779093643	252	G>C		No	ClinGen ExAC gnomAD
rs1417759649 CA376032567	253	L>V		No	ClinGen gnomAD
CA5411294 rs758669615	254	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5411293 rs752987555	254	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5411295 rs777749612	255	L>F		No	ClinGen ExAC gnomAD
rs746814975 CA5411296	256	R>G		No	ClinGen ExAC gnomAD
CA5411313 rs758759524	257	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5411312 rs752791668	257	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5411315 rs751675331	259	R>*		No	ClinGen ExAC gnomAD
rs554458817 CA203264697	259	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554458817 CA5411316	259	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375461362 CA5411317	260	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1423001259 CA376032614	261	S>P		No	ClinGen TOPMed
CA376032616 rs1281112948	261	S>Y		No	ClinGen gnomAD
CA5411318 rs745828712	262	S>A		No	ClinGen ExAC gnomAD
TCGA novel	264	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768359386 CA5411322	265	M>I		No	ClinGen ExAC gnomAD
CA376032641 rs748796061	265	M>R		No	ClinGen ExAC gnomAD
CA5411321 rs748796061	265	M>T		No	ClinGen ExAC gnomAD
rs761514365 CA5411320	265	M>V		No	ClinGen ExAC TOPMed gnomAD
rs774054084 CA5411323	266	N>K		No	ClinGen ExAC TOPMed gnomAD
CA376032672 rs1420177708	269	M>I		No	ClinGen gnomAD
rs747712430 CA5411324	269	M>V		No	ClinGen ExAC gnomAD
rs142541762 CA376032682	271	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376032681 rs142541762	271	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5411326 rs142541762	271	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760158225 CA5411327	272	R>*		No	ClinGen ExAC TOPMed gnomAD
CA5411328 rs556697001	272	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed
CA376032706 rs1439414670	275	I>T		No	ClinGen gnomAD
CA5411331 rs764013639	276	R>G		No	ClinGen ExAC gnomAD
CA203264739 rs545054708	279	Q>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs767395548 CA5411334	279	Q>R		No	ClinGen ExAC gnomAD
rs750190444 CA5411335	283	K>*		No	ClinGen ExAC gnomAD
CA5411336 rs756114763	285	A>S		No	ClinGen ExAC TOPMed gnomAD
rs756114763 CA376032771	285	A>T		No	ClinGen ExAC TOPMed gnomAD
rs868081860 CA203264747	285	A>V		No	ClinGen Ensembl
CA5411337 rs779957179	287	E>D		No	ClinGen ExAC gnomAD
rs749170762 CA5411338	288	K>E		No	ClinGen ExAC TOPMed gnomAD
rs754543607 CA5411339	289	L>P		No	ClinGen ExAC gnomAD
rs1237599117 CA376032797	289	L>V		No	ClinGen gnomAD
rs141929566 CA5411340	290	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs747881068 CA5411341	291	E>*		No	ClinGen ExAC gnomAD
rs1588470282 CA376032808	291	E>A		No	ClinGen Ensembl
rs747881068 CA5411342	291	E>Q		No	ClinGen ExAC gnomAD
rs777118584 CA5411343	292	I>L		No	ClinGen ExAC TOPMed gnomAD
rs777118584 CA376032814	292	I>V		No	ClinGen ExAC TOPMed gnomAD
CA376032833 rs1426859433	294	W>*		No	ClinGen gnomAD
TCGA novel	294	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376032829 rs1172890519	294	W>G		No	ClinGen gnomAD
rs1407822554 CA376032838	295	V>L		No	ClinGen gnomAD
CA376032864 rs1564384950	299	V>F		No	ClinGen Ensembl
rs1333950379 CA376032881	301	L>F		No	ClinGen gnomAD
rs1369341324 CA376032891	303	K>E		No	ClinGen gnomAD
CA5411346 rs564839772	304	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs766989423 CA5411347	305	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5411349 rs774275306	307	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA203264775 rs375295359	309	V>M		No	ClinGen Ensembl
CA5411351 rs375369051	311	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA376032960 rs1588471268	312	G>R		No	ClinGen Ensembl
CA376032970 rs1457885813	313	K>R		No	ClinGen TOPMed gnomAD
rs1393412489 CA376032975	314	T>A		No	ClinGen gnomAD
CA203265527 rs1031893245	314	T>N		No	ClinGen Ensembl
rs1296635975 CA376032995	317	I>L		No	ClinGen TOPMed
CA376033000 rs1441277744	317	I>T		No	ClinGen TOPMed
rs762864932 CA5411375	318	W>C		No	ClinGen ExAC gnomAD
rs1373480418 CA376033028	321	N>I		No	ClinGen TOPMed
rs373449086 CA5411376	324	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5411377 rs149343572	324	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376033049 rs1588471293	325	D>N		No	ClinGen Ensembl
CA203265539 rs914754255	329	C>Y		No	ClinGen TOPMed gnomAD
rs757850691 CA5411379	330	V>A		No	ClinGen ExAC gnomAD
CA376033083 rs1339934035	330	V>M		No	ClinGen gnomAD
TCGA novel	333	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5411380 rs777378257	334	L>V		No	ClinGen ExAC gnomAD
CA203265546 rs764586898	337	E>K		No	ClinGen Ensembl
CA5411382 rs141426207	341	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5411381 rs141426207	341	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5411384 rs150377690	343	W>R		No	ClinGen ESP ExAC gnomAD
CA203265559 rs1041961812	345	T>A		No	ClinGen TOPMed
rs769266273 CA5411385	345	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1188939870 CA376033204	348	G>R		No	ClinGen TOPMed gnomAD
rs1564385907 CA376033216	350	V>I		No	ClinGen Ensembl
rs199940802 CA5411390	351	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199940802 CA376033223	351	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs3765519 CA203265571	352	G>W		No	ClinGen Ensembl
rs1361549338 CA376033232	353	I>L		No	ClinGen TOPMed gnomAD
rs771134520 CA5411391	355	N>H		No	ClinGen ExAC gnomAD
rs776545237 CA5411392	355	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs759261296 CA5411393	356	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5411396 rs149515019	357	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs980228011 CA203265592	358	P>H		No	ClinGen Ensembl
rs1037766566 CA203265589	358	P>S		No	ClinGen TOPMed
CA376033271 rs1331015699	359	M>T		No	ClinGen TOPMed
rs1214413010 CA376033295	362	K>R		No	ClinGen gnomAD
CA5411399 rs528805094	363	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1355567323 CA376033305	364	G>S		No	ClinGen gnomAD
rs767268067 CA5411400	365	S>T		No	ClinGen ExAC gnomAD
TCGA novel	367	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376624218 CA5411401	367	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368410800 CA5411418	368	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5411420 rs765572804	371	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs867452971 CA203273291	371	S>P		No	ClinGen Ensembl
rs753095160 CA203273310	372	I>F		No	ClinGen ExAC TOPMed gnomAD
rs61755071 CA5411424	372	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5411422 rs374749777	372	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753095160 CA5411421	372	I>V		No	ClinGen ExAC TOPMed gnomAD
rs138296691 CA5411425	373	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA376033377 rs781291700	374	H>N		No	ClinGen ExAC gnomAD
CA5411428 rs142889100	374	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5411427 rs200097291	374	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781291700 CA5411426	374	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	377	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5411429 rs779768919	378	V>I		No	ClinGen ExAC
CA5411430 rs749088342	379	L>*		No	ClinGen ExAC gnomAD
rs1588472511 CA376033422	381	M>L		No	ClinGen Ensembl
CA376033426 rs1325761652	381	M>T		No	ClinGen gnomAD
CA376033434 rs1229786830	382	G>D		No	ClinGen TOPMed
TCGA novel	383	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768496837 CA5411431	384	A>G		No	ClinGen ExAC gnomAD
rs141332737 CA5411432	389	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA203273372 rs917734763	393	K>E		No	ClinGen Ensembl
CA5411434 rs761789682	395	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs771509019 CA5411435	397	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1404688436 CA376033539	398	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5411436 rs772760028	399	P>L		No	ClinGen ExAC gnomAD
rs1425847721 CA376033552	400	C>R		No	ClinGen gnomAD
CA203273389 rs372112495	401	T>M		No	ClinGen ESP TOPMed gnomAD
CA376033562 rs372112495	401	T>R		No	ClinGen ESP TOPMed gnomAD
rs1370848232 CA376033575	403	T>S		No	ClinGen TOPMed
CA5411438 rs542674575	404	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376033582 rs1197057914	405	N>D		No	ClinGen TOPMed
CA203273416 rs907795804	405	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	406	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1197784556 CA376033593	406	L>W		No	ClinGen TOPMed
CA5411454 rs537053945	407	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5411455 rs141550112	407	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376033610 rs141550112	407	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770292469 CA5411456	409	C>Y		No	ClinGen ExAC gnomAD
rs759149501 CA5411458	410	E>D		No	ClinGen ExAC TOPMed gnomAD
rs776288502 CA5411457	410	E>K		No	ClinGen ExAC gnomAD
CA5411459 rs764482766	411	Y>C		No	ClinGen ExAC gnomAD
rs377339151 CA5411461	412	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs768062336 CA376033651	413	Q>L		No	ClinGen ExAC gnomAD
rs768062336 CA5411462	413	Q>P		No	ClinGen ExAC gnomAD
rs768062336 CA376033650	413	Q>R		No	ClinGen ExAC gnomAD
CA376033659 rs1241245426	414	Y>F		No	ClinGen gnomAD
CA376033655 rs1588473512	414	Y>H		No	ClinGen Ensembl
rs756228575 CA376033662	415	H>D		No	ClinGen ExAC gnomAD
rs756228575 CA5411464	415	H>N		No	ClinGen ExAC gnomAD
CA376033678 rs1238097996	417	Q>R		No	ClinGen gnomAD
rs35114749 VAR_053837 CA5411466	418	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA376033693 rs1176684036	419	Q>P		No	ClinGen gnomAD
rs1176684036 CA376033691	419	Q>R		No	ClinGen gnomAD
CA5411467 rs755216522	420	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	421	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5411468 rs778913875	421	K>R		No	ClinGen ExAC gnomAD
CA376033711 rs1160022662	422	K>E		No	ClinGen gnomAD
rs1422648297 CA376033714	422	K>R		No	ClinGen gnomAD
CA5411470 rs7904071	424	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777782045 CA5411471	425	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5411473 rs368963738	427	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368963738 CA5411474	427	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA376033744 rs746874909	427	R>S		No	ClinGen ExAC TOPMed gnomAD
rs150040889 CA5411475	428	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150040889 CA5411476	428	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1281599379 CA376033768	431	Q>R		No	ClinGen gnomAD
CA203275104 rs373853989	433	T>I		No	ClinGen ESP TOPMed gnomAD
rs1588473566 CA376033778	433	T>P		No	ClinGen Ensembl
CA5411480 rs773787596	435	S>P		No	ClinGen ExAC gnomAD
CA376033809 rs1196748793	438	R>*		No	ClinGen TOPMed gnomAD
rs766602619 CA5411482	438	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA376033824 rs1458119522	440	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1588473584 CA376033820	440	P>S		No	ClinGen Ensembl
CA376033826 rs1183760826	441	K>E		No	ClinGen gnomAD
CA376033825 rs1183760826	441	K>Q		No	ClinGen gnomAD
CA376033838 rs1244732104	442	K>T		No	ClinGen gnomAD
CA376033850 rs1588473589	444	A>P		No	ClinGen Ensembl
CA5411483 rs116465689	445	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA203275128 rs755322729	445	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5411484 rs755322729	445	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5411485 rs144346423	447	G>A		No	ClinGen ESP ExAC gnomAD
CA5411486 rs144346423	447	G>V		No	ClinGen ESP ExAC gnomAD
CA5411488 rs777393383	448	T>N		No	ClinGen ExAC TOPMed gnomAD
CA5411487 rs758237546	448	T>P		No	ClinGen ExAC gnomAD
CA5411489 rs747007636	449	S>N		No	ClinGen ExAC TOPMed gnomAD
CA376033880 rs1448132424	450	L>I		No	ClinGen gnomAD
rs1331356659 CA376033892	451	K>N		No	ClinGen TOPMed gnomAD
rs967212355 CA203275159	452	E>K		No	ClinGen TOPMed
rs202032831 CA376033901	453	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1049246662 CA203275166	453	R>Q		No	ClinGen TOPMed gnomAD
rs202032831 CA5411490	453	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA203275174 rs202234128	455	C>G		No	ClinGen gnomAD
rs1318570058 CA376033914	455	C>W		No	ClinGen gnomAD
rs376230830 CA5411493	455	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588473634 CA376033918	456	Q>P		No	ClinGen Ensembl
CA376033927 rs1444030016	457	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775135785 CA5411494	458	G>S		No	ClinGen ExAC gnomAD
rs748841287 CA5411495	459	F>I		No	ClinGen ExAC gnomAD
CA376033943 rs1199236310	460	Y>N		No	ClinGen gnomAD
CA203275198 rs887958351	462	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1588473662 CA376033966	463	G>E		No	ClinGen Ensembl
rs773414844 CA5411497	463	G>R		No	ClinGen ExAC gnomAD
CA5411498 rs761289771	464	V>F		No	ClinGen ExAC TOPMed gnomAD
CA376033973 rs1588473666	464	V>G		No	ClinGen Ensembl
rs761289771 CA376033969	464	V>I		No	ClinGen ExAC TOPMed gnomAD
rs761289771 CA376033970	464	V>L		No	ClinGen ExAC TOPMed gnomAD
CA376033996 rs201257636	468	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5411499 rs201257636	468	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs866047041 CA203275258	470	A>V		No	ClinGen Ensembl
CA376034014 rs1389116853	471	A>G		No	ClinGen gnomAD
rs752996916 CA5411503	473	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1588474507 CA376034226	474	A>V		No	ClinGen Ensembl
rs1418160802 CA376034243	476	A>T		No	ClinGen gnomAD
CA376034276 rs1297814204	479	P>A		No	ClinGen gnomAD
CA376034285 rs1385871847	479	P>L		No	ClinGen gnomAD
CA5411517 rs771366872	480	K>E		No	ClinGen ExAC gnomAD
TCGA novel	480	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1332231070 CA376034354	484	Q>H		No	ClinGen gnomAD
rs1245403010 CA376034386	487	L>P		No	ClinGen gnomAD
CA376034392 rs1316974125	488	S>C		No	ClinGen gnomAD
CA5411519 rs777302326	488	S>I		No	ClinGen ExAC TOPMed gnomAD
rs763652442 CA203276904	489	N>S		No	ClinGen TOPMed
rs763652442 CA376034408	489	N>T		No	ClinGen TOPMed
rs1313046802 CA376034428	491	V>I		No	ClinGen TOPMed
rs1286299299 CA376034456	493	K>M		No	ClinGen gnomAD
rs770035386 CA5411521	493	K>N		No	ClinGen ExAC gnomAD
rs1286299299 CA376034453	493	K>T		No	ClinGen gnomAD
TCGA novel	497	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376034515 rs1234762803	498	I>V		No	ClinGen Ensembl
rs1254829221 CA376034536	500	Q>K		No	ClinGen TOPMed gnomAD
rs374101385 CA5411525	503	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5411526 rs368268628	503	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs374101385 CA5411524	503	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756012601 CA5411529	507	G>R		No	ClinGen ExAC gnomAD
rs768722610 CA5411542	509	P>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	510	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5411543 rs774457213	511	K>E		No	ClinGen ExAC TOPMed gnomAD
CA376034628 rs774457213	511	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1232169089 CA376034644	513	L>V		No	ClinGen TOPMed
rs1298584936 CA376034652	514	S>C		No	ClinGen gnomAD
TCGA novel	514	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs963731606 CA203277766	515	C>*		No	ClinGen TOPMed
CA5411545 rs189117948	515	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1384784530 CA376034659	515	C>W		No	ClinGen gnomAD
rs772965566 CA5411546	516	S>F		No	ClinGen ExAC gnomAD
CA376034680 rs1345698434	518	E>D		No	ClinGen TOPMed gnomAD
rs766235434 CA5411548	519	F>L		No	ClinGen ExAC gnomAD
rs760659908 CA5411547	519	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1313457176 CA376034690	520	K>*		No	ClinGen TOPMed
CA376034692 rs1316649814	520	K>R		No	ClinGen gnomAD
CA5411549 rs753755291	521	E>K		No	ClinGen ExAC gnomAD
CA203277823 rs375463667	522	L>P		No	ClinGen ESP TOPMed
CA203277825 rs937968185	523	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5411550 rs754471223	524	D>A		No	ClinGen ExAC gnomAD
rs1055778475 CA376034715	524	D>N		No	ClinGen TOPMed gnomAD
CA5411551 rs754471223	524	D>V		No	ClinGen ExAC gnomAD
rs1055778475 CA203277830	524	D>Y		No	ClinGen TOPMed gnomAD
rs752439762 CA5411552	525	L>V		No	ClinGen ExAC TOPMed gnomAD
rs758103796 CA5411553	526	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5411555 rs562924072	527	T>M		No	ClinGen ExAC gnomAD
TCGA novel	527	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376034737 rs1477487711	528	C>Y		No	ClinGen gnomAD
CA376034765 rs1356137198	532	N>S		No	ClinGen gnomAD
CA5411559 rs768649101	533	L>V		No	ClinGen ExAC gnomAD
rs868850290 CA203277889	535	Q>H		No	ClinGen Ensembl
CA5411561 rs151016570	536	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748415871 CA5411562	539	K>E		No	ClinGen ExAC gnomAD
rs772264671 CA376034818	540	A>P		No	ClinGen ExAC TOPMed gnomAD
rs772264671 CA5411563	540	A>T		No	ClinGen ExAC TOPMed gnomAD
rs7905784 CA5411564 VAR_030772	541	T>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5411565 rs114656409 RCV000947231	542	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5411578 rs755485040	546	M>L		No	ClinGen ExAC gnomAD
rs1364742950 CA376034866	546	M>T		No	ClinGen TOPMed gnomAD
CA376034882 rs1314858352	548	S>I		No	ClinGen gnomAD
CA376034880 rs1314858352	548	S>N		No	ClinGen gnomAD
CA376034896 rs1588475027	550	K>N		No	ClinGen Ensembl
rs748219280 CA5411581	550	K>T		No	ClinGen ExAC gnomAD
CA5411585 rs747217762	551	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5411584 rs747217762	551	P>R		No	ClinGen ExAC TOPMed gnomAD
rs772084961 CA5411583	551	P>S		No	ClinGen ExAC gnomAD
CA5411582 rs772084961	551	P>T		No	ClinGen ExAC gnomAD
rs1217084346 CA376034901	552	A>T		No	ClinGen TOPMed
rs776466497 CA5411586	553	I>F		No	ClinGen ExAC gnomAD
rs776466497 CA376034907	553	I>V		No	ClinGen ExAC gnomAD
rs146982076 CA376034927	556	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5411587 rs146982076	556	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558495502 CA5411588	557	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA376034936 rs558495502	557	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138715202 CA5411590	560	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5411591 rs763648658	562	L>F		No	ClinGen ExAC gnomAD
rs751286859 CA5411592	567	Q>H		No	ClinGen ExAC gnomAD
rs373990822 CA5411594	568	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs761494277 CA5411593	568	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5411595 rs754215047	569	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1446548087 CA376035012	569	M>R		No	ClinGen gnomAD
rs779393229 CA5411597	571	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	571	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1032157461 CA203278186	573	R>K		No	ClinGen TOPMed gnomAD
CA376035047 rs1318290482	574	R>T		No	ClinGen TOPMed
rs1307492206 CA376035054	575	R>K		No	ClinGen gnomAD
CA203278239 rs959267489	578	E>K		No	ClinGen Ensembl
rs1310525566 CA376035085	579	E>D		No	ClinGen gnomAD
CA5411599 rs758508559	579	E>Q		No	ClinGen ExAC gnomAD
rs777801500 CA5411600	581	Q>*		No	ClinGen ExAC gnomAD
rs747247216 CA5411601	582	K>T		No	ClinGen ExAC gnomAD
rs376141871 CA376035111	583	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5411602 rs376141871	583	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA203280635 rs946801357	585	L>P		No	ClinGen TOPMed
CA376035240 rs1295802613	589	S>G		No	ClinGen TOPMed
CA5411629 rs758031310	591	V>A		No	ClinGen ExAC gnomAD
rs760291972 CA5411631	592	E>D		No	ClinGen ExAC TOPMed gnomAD
rs772952758 CA5411630	592	E>G		No	ClinGen ExAC gnomAD
CA5411632 rs765643142	594	P>T		No	ClinGen ExAC gnomAD
CA376035319 rs1490101326	595	A>D		No	ClinGen TOPMed gnomAD
CA376035334 rs1425219481	597	P>A		No	ClinGen TOPMed
rs775823079 CA5411633	597	P>L		No	ClinGen ExAC gnomAD
rs775823079 CA203280694	597	P>R		No	ClinGen ExAC gnomAD
rs764667538 CA5411635	599	S>A		No	ClinGen ExAC gnomAD
CA5411636 rs528164740	599	S>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	601	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757380949 CA5411637	602	Q>*		No	ClinGen ExAC gnomAD
rs1161459747 CA376035396	602	Q>H		No	ClinGen TOPMed
CA376035398 rs373552949	603	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373552949 CA5411638	603	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA376035416 rs1195553963	604	P>R		No	ClinGen TOPMed
CA5411641 rs756383017	607	P>T		No	ClinGen ExAC gnomAD
rs1490984441 CA376035475	609	R>P		No	ClinGen TOPMed
CA376035473 rs1490984441	609	R>Q		No	ClinGen TOPMed
rs74881009 CA5411642	609	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1290145686 CA376035508	612	S>F		No	ClinGen TOPMed
CA5411644 rs754749477	613	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1317676596 CA376035538	614	F>L		No	ClinGen TOPMed gnomAD
rs1326995796 CA376035540	615	P>S		No	ClinGen TOPMed gnomAD
rs771654696 CA5411647	618	E>*		No	ClinGen ExAC gnomAD
CA5411648 rs771654696	618	E>Q		No	ClinGen ExAC gnomAD
rs1358472788 CA376035593	619	G>A		No	ClinGen gnomAD
TCGA novel	620	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5411649 rs111253091	621	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	621	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351003868 CA376035636	623	T>I		No	ClinGen gnomAD
rs1301172419 CA376035645	624	M>T		No	ClinGen TOPMed
rs149354602 CA5411652	624	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5411653 rs764318577	625	T>M		No	ClinGen ExAC TOPMed gnomAD
rs550644313 CA5411655	626	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs200529025 CA5411657	627	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5411659 rs148160347	630	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs75614526 CA5411660	630	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376820683 CA203280834	631	G>S		No	ClinGen ESP TOPMed
rs750899220 CA203280845	632	V>D		No	ClinGen Ensembl
rs1310607816 CA376035740	633	L>S		No	ClinGen gnomAD
CA5411666 rs777413226	641	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5411667 rs746527254	642	D>G		No	ClinGen ExAC gnomAD
rs1245714295 CA376035852	643	E>G		No	ClinGen gnomAD
CA5411669 rs780847066	645	P>Q		No	ClinGen ExAC
rs147296108 CA5411668	645	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1237866458 CA376035881	646	P>Q		No	ClinGen gnomAD
TCGA novel	646	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376035892 rs1352217634	647	P>L		No	ClinGen TOPMed gnomAD
CA376035893 rs1352217634	647	P>R		No	ClinGen TOPMed gnomAD
CA376035888 rs1260867843	647	P>S		No	ClinGen gnomAD
CA5411671 rs372118753	648	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA376035900 rs372118753	648	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	649	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376035929 rs1461227588	651	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs990042213 CA203280886	652	S>G		No	ClinGen gnomAD
rs1417626126 CA376035954	653	A>V		No	ClinGen TOPMed gnomAD
rs1007343017 CA203280887	654	L>F		No	ClinGen TOPMed
CA376035959 rs1181367623	654	L>S		No	ClinGen gnomAD
rs1211025664 CA376035972	656	E>D		No	ClinGen gnomAD
rs140966545 CA203280889	656	E>K		No	ClinGen ESP TOPMed gnomAD
CA376035967 rs140966545	656	E>Q		No	ClinGen ESP TOPMed gnomAD
CA5411672 rs774554665	657	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762440212 CA5411673	658	K>E		No	ClinGen ExAC gnomAD
rs1405319044 CA376035984	658	K>N		No	ClinGen gnomAD
CA376035983 rs1174320550	658	K>R		No	ClinGen gnomAD
CA5411674 rs772452690	659	K>R		No	ClinGen ExAC gnomAD
CA376036011 rs1306230970	660	L>F		No	ClinGen gnomAD
CA376036014 rs1227209325	661	A>S		No	ClinGen gnomAD
rs779400663 CA5411689	661	A>V		No	ClinGen ExAC gnomAD
CA376036021 rs1268360578	662	A>G		No	ClinGen gnomAD
rs772418997 CA5411691	662	A>P		No	ClinGen ExAC TOPMed gnomAD
rs772418997 CA376036018	662	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773876113 CA5411692	663	I>V		No	ClinGen ExAC gnomAD
rs36050251 CA5411693	664	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5411694 rs36050251	664	T>N		No	ClinGen ExAC TOPMed gnomAD
rs759873456 CA5411696	666	L>*		No	ClinGen ExAC gnomAD
CA203282428 rs1000520925	667	R>K		No	ClinGen TOPMed gnomAD
rs1042199634 CA203282424	667	R>W		No	ClinGen Ensembl
VAR_030773 rs2274110 CA5411697	669	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs936163048 CA203282452	670	G>V		No	ClinGen Ensembl
CA376036075 rs1422434761	671	Q>H		No	ClinGen gnomAD
rs149088764 CA5411698	673	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA376036111 rs1405888729	676	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs763838378 CA5411700	678	P>S		No	ClinGen ExAC gnomAD
rs894718728 CA203282469	679	N>D		No	ClinGen TOPMed
rs751539198 CA5411701	680	S>I		No	ClinGen ExAC TOPMed gnomAD
rs751539198 CA376036162	680	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	682	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5411703 rs780736533	683	K>E		No	ClinGen ExAC
CA376036205 rs1296832018	683	K>N		No	ClinGen TOPMed gnomAD
CA5411704 rs749896061	683	K>T		No	ClinGen ExAC gnomAD
CA5411705 rs755584100	684	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1244162156 CA376036231	685	Q>H		No	ClinGen gnomAD
rs1008353616 CA203282474	685	Q>R		No	ClinGen TOPMed
rs1291343045 CA376036261	687	D>G		No	ClinGen gnomAD
CA376036251 rs1311978268	687	D>Y		No	ClinGen gnomAD
rs1564391835 CA376036273	688	P>S		No	ClinGen Ensembl
CA376036287 rs1223919816	689	Q>P		No	ClinGen gnomAD
rs779582176 CA5411706	690	D>N		No	ClinGen ExAC TOPMed gnomAD
CA376036345 rs1263691683	693	E>D		No	ClinGen gnomAD
rs201346956 CA5411707	693	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA376036347 rs1222672502	694	V>M		No	ClinGen TOPMed
rs1442567311 CA376036377	696	E>K		No	ClinGen gnomAD
rs781012938 CA203282480	697	R>C		No	ClinGen gnomAD
rs758861708 CA5411708	697	R>H		No	ClinGen ExAC gnomAD
CA5411709 rs778249387	698	V>A		No	ClinGen ExAC gnomAD
rs1426138019 CA376036399	698	V>L		No	ClinGen gnomAD
rs772561920	701	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	705	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	705	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747578910 CA5411711	707	Q>E		No	ClinGen ExAC gnomAD
CA5411737 rs147383095	710	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs754834955 CA203283138	711	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs754834955 CA376036569	711	E>K		No	ClinGen TOPMed
rs370490359 CA5411739 CA5411740	712	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs753387123 CA5411742	715	A>G		No	ClinGen ExAC gnomAD
CA376036597 rs1159978995	715	A>T		No	ClinGen TOPMed
rs1307456029 CA376036601	716	R>G		No	ClinGen TOPMed gnomAD
rs565563539 CA5411743	716	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765000042 CA5411744	717	K>E		No	ClinGen ExAC gnomAD
CA5411745 rs752349727	717	K>I		No	ClinGen ExAC gnomAD
CA5411746 rs752349727	717	K>R		No	ClinGen ExAC gnomAD
rs1310004144	719	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5411748 rs781591674	719	R>G		No	ClinGen ExAC
rs1283869842 CA376036629	720	R>I		No	ClinGen gnomAD
rs750943183 CA5411750	722	Q>*		No	ClinGen ExAC gnomAD
rs750943183 CA5411749	722	Q>E		No	ClinGen ExAC gnomAD
CA5411752 rs544783884	722	Q>H		No	ClinGen ExAC gnomAD
CA376036668 rs1438106122	726	L>P		No	ClinGen gnomAD
rs768664607 CA5411753	727	E>K		No	ClinGen ExAC gnomAD
rs779125017 CA5411754	733	K>E		No	ClinGen ExAC gnomAD
CA376036745 rs1199457965	737	A>G		No	ClinGen gnomAD
CA203283235 rs920170107	737	A>T		No	ClinGen Ensembl
CA376036757 rs1255028368	739	S>P		No	ClinGen TOPMed
rs771799276 CA5411756	740	K>N		No	ClinGen ExAC TOPMed gnomAD
CA376036777 rs773034801	742	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA376036779 rs41291311	742	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs41291311 CA5411758	742	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773034801 CA5411757	742	T>P		No	ClinGen ExAC TOPMed gnomAD
CA376036788 rs1588478055	744	I>F		No	ClinGen Ensembl
CA203284690 rs201520041	749	E>K		No	ClinGen TOPMed gnomAD
CA203284694 rs1002242200	750	A>T		No	ClinGen Ensembl
CA376036984 rs1588479201	750	A>V		No	ClinGen Ensembl
CA5411774 CA376037013 rs772322809	752	M>I		No	ClinGen ExAC gnomAD
rs1483754424 CA376037034	754	E>*		No	ClinGen gnomAD
CA376037041 rs1334621229	754	E>D		No	ClinGen TOPMed
rs368573448 CA5411775	755	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs746837274 CA5411776	755	R>H		No	ClinGen ExAC TOPMed gnomAD
CA376037049 rs746837274	755	R>P		No	ClinGen ExAC TOPMed gnomAD
CA376037061 rs1381660379	756	Y>*		No	ClinGen TOPMed gnomAD
rs770586928 CA5411777	759	P>S		No	ClinGen ExAC gnomAD
rs759515783 CA5411780	762	K>I		No	ClinGen ExAC TOPMed gnomAD
CA376037128 rs775129086	762	K>N		No	ClinGen ExAC TOPMed gnomAD
CA5411779 rs759515783	762	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5411782 rs762758196	763	K>E		No	ClinGen ExAC gnomAD
rs1465722658 CA376037139	763	K>R		No	ClinGen gnomAD
rs1211028343 CA376037144	764	E>*		No	ClinGen gnomAD
TCGA novel	764	E>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376037160 rs1241672087	765	Q>*		No	ClinGen gnomAD
CA376037169 rs1444314174	765	Q>H		No	ClinGen gnomAD
CA376037248 rs1158027716	770	M>I		No	ClinGen gnomAD
rs761122519 CA5411785	770	M>L		No	ClinGen ExAC gnomAD
CA203284772 rs564717871	772	N>S		No	ClinGen Ensembl
CA203284785 rs898743791	773	I>M		No	ClinGen TOPMed gnomAD
CA5411787 rs754379931	773	I>V		No	ClinGen ExAC gnomAD
rs755452710 CA5411788	775	E>K		No	ClinGen ExAC gnomAD
rs185670832 CA5411789	775	E>V		No	ClinGen 1000Genomes ExAC TOPMed
rs1425649842 CA376037328	777	K>R		No	ClinGen TOPMed gnomAD
CA5411791 rs149109470	779	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs143533098 CA5411793	779	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5411792 rs149109470	779	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1259784369 CA376037367	780	V>A		No	ClinGen TOPMed
CA376037371 rs1279614837	781	V>M		No	ClinGen TOPMed gnomAD
CA376037389 rs757115215	782	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5411794 rs757115215	782	T>K		No	ClinGen ExAC TOPMed gnomAD
CA376037402 rs1431767040	783	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA376037392 rs1211124141	783	C>S		No	ClinGen gnomAD
rs1261747229 CA376037411	784	K>T		No	ClinGen TOPMed gnomAD
CA5411796 rs199995341	785	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536238621	786	C>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs201741849 CA5411824	786	C>R		No	ClinGen 1000Genomes ExAC gnomAD
rs759917882 CA5411826	787	A>T		No	ClinGen ExAC gnomAD
CA5411828 rs765547073	788	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA376037751 rs1274014607	788	Y>D		No	ClinGen TOPMed
rs765547073 CA5411827	788	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1223348630 CA376037756	789	T>A		No	ClinGen TOPMed gnomAD
rs1276149622 CA376037762	790	H>D		No	ClinGen TOPMed
CA203286331 rs998895160	790	H>Q		No	ClinGen Ensembl
CA5411829 rs763351686	793	L>M		No	ClinGen ExAC TOPMed gnomAD
CA5411830 rs764295674	794	L>M		No	ClinGen ExAC gnomAD
rs202189412 CA5411831	796	T>A		No	ClinGen ExAC gnomAD
CA376037806 rs1192857501	797	C>R		No	ClinGen gnomAD
rs374760775 CA5411835	798	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs374760775 CA5411834	798	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588480589 CA376037821	799	S>T		No	ClinGen Ensembl
CA5411837 rs146712133	800	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753862520 CA5411838	802	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	804	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376037874 rs1421932043	806	W>*		No	ClinGen TOPMed
CA5411842 rs2277221	807	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778551292 CA5411840	807	H>Y		No	ClinGen ExAC gnomAD
rs1564394568 CA376037890	808	D>G		No	ClinGen Ensembl
CA5411843 rs777435835	812	R>G		No	ClinGen ExAC gnomAD
CA376037915 rs746633584	812	R>K		No	ClinGen ExAC gnomAD
rs746633584 CA5411844	812	R>T		No	ClinGen ExAC gnomAD
TCGA novel	814	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs908835401 CA203286418	815	K>R		No	ClinGen Ensembl
CA376037948 rs769050103	816	C>W		No	ClinGen ExAC gnomAD
rs763586534 CA5411847	816	C>Y		No	ClinGen ExAC gnomAD
CA203286438 rs759878063	817	P>R		No	ClinGen Ensembl
CA376037976 rs1312200139	821	R>G		No	ClinGen gnomAD
CA5411850 rs762004104	821	R>T		No	ClinGen ExAC gnomAD
rs1223804060 CA376037985	822	S>N		No	ClinGen gnomAD
rs1258925030 CA376037990	823	I>L		No	ClinGen gnomAD
rs373500766 CA5411851	823	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA376038000 rs1209176574	824	S>F		No	ClinGen gnomAD
rs752774296 CA203286455	825	L>M		No	ClinGen ExAC TOPMed gnomAD
CA5411853 rs375088387	825	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs148330476 CA5411854	829	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754733702 CA5411856	830	N>D		No	ClinGen ExAC gnomAD
rs1432150427 CA376038038	830	N>K		No	ClinGen gnomAD
CA376038050 rs1312665165	832	H>P		No	ClinGen TOPMed
CA5411857 rs140511495	832	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA5411858 rs752641303	833	C>R		No	ClinGen ExAC gnomAD
rs544718421 CA5411872	837	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1260262123 CA376038302	839	Y>C		No	ClinGen TOPMed
rs1296592649 CA376038310	840	K>R		No	ClinGen TOPMed gnomAD
CA5411873 rs564430050	841	W>C		No	ClinGen 1000Genomes ExAC
CA5411875 rs187685058	843	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766513721 CA5411874	843	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1290171794 CA376038338	844	D>G		No	ClinGen gnomAD
CA203289239 rs533444195	845	G>R		No	ClinGen TOPMed gnomAD
rs765052651 CA5411878	848	K>T		No	ClinGen ExAC gnomAD
CA376038549 rs1273511838	850	K>R		No	ClinGen gnomAD
CA5411893 rs373955055	851	T>P		No	ClinGen ESP ExAC gnomAD
CA5411894 rs199611330	852	G>D		No	ClinGen ExAC TOPMed gnomAD
CA376038572 rs1288943511	854	K>E		No	ClinGen gnomAD
rs1450465010 CA376038596	857	G>E		No	ClinGen gnomAD
rs764999430 CA5411895	858	E>G		No	ClinGen ExAC gnomAD
rs1479226182 CA376038610	859	T>I		No	ClinGen TOPMed gnomAD
CA203289372 rs113793361	860	L>P		No	ClinGen Ensembl
rs367875725 CA5411897	862	P>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	863	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764036266 CA5411899	863	R>K		No	ClinGen ExAC TOPMed
rs751453016 CA5411900	864	G>R		No	ClinGen ExAC gnomAD
rs756745723 CA5411901	865	E>K		No	ClinGen ExAC gnomAD
rs777969188 CA5411902	866	E>K		No	ClinGen ExAC TOPMed gnomAD
CA376038678 rs1588483273	867	H>L		No	ClinGen Ensembl
rs1229452828 CA376038693	868	A>V		No	ClinGen TOPMed
CA5411905 rs779486870	872	N>K		No	ClinGen ExAC gnomAD
CA376038757 rs138173457	873	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5411906 rs138173457	873	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs758775846 CA5411907	873	S>R		No	ClinGen ExAC gnomAD

1 associated diseases with Q7L590

[MIM: 619313]: Immunodeficiency 80 with or without congenital cardiomyopathy (IMD80)

An autosomal recessive immunologic disorder with variable manifestations including decreased B and T cells, reduced effector and memory T cells, NK cell deficiency, chronic cytomegalovirus infection. Restrictive cardiomyopathy and hypoplasia of the spleen and thymus have also been reported in some patients. {ECO:0000269|PubMed:32865517}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive immunologic disorder with variable manifestations including decreased B and T cells, reduced effector and memory T cells, NK cell deficiency, chronic cytomegalovirus infection. Restrictive cardiomyopathy and hypoplasia of the spleen and thymus have also been reported in some patients. {ECO:0000269|PubMed:32865517}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q7L590

Type	Name	Position	InterPro Accession
domain	Zinc finger, Mcm10/DnaG-type	382 - 427	IPR015408
domain	Replication factor Mcm10, C-terminal	523 - 873	IPR015411

Functions

		Description
EC Number
Subcellular Localization	Nucleus	Colocalizes with ORC2 in nuclei foci Associated with chromatin in S phase From early to mid-S phase located in discrete nuclear foci In early S phase, several hundred foci appeared throughout the nucleus In mid-S phase, the foci appeared at the nuclear periphery and nucleolar regions In the late S and G phases localized to nucleoli
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
replication fork protection complex	A protein complex conserved in eukaryotes and associated with the replication fork; the complex stabilizes stalled replication forks and is thought to be involved in coordinating leading- and lagging-strand synthesis and in replication checkpoint signaling.

5 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.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
identical protein binding	Binding to an identical protein or proteins.
metal ion binding	Binding to a metal ion.
single-stranded DNA binding	Binding to single-stranded DNA.

3 GO annotations of biological process

Name	Definition
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
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.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32354	MCM10	Minichromosome maintenance protein 10	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR

10	20	30	40	50	60
MDEEEDNLSL	LTALLEENES	ALDCNSEENN	FLTRENGEPD	AFDELFDADG	DGESYTEEAD
70	80	90	100	110	120
DGETGETRDE	KENLATLFGD	MEDLTDEEEV	PASQSTENRV	LPAPAPRREK	TNEELQEELR
130	140	150	160	170	180
NLQEQMKALQ	EQLKVTTIKQ	TASPARLQKS	PVEKSPRPPL	KERRVQRIQE	STCFSAELDV
190	200	210	220	230	240
PALPRTKRVA	RTPKASPPDP	KSSSSRMTSA	PSQPLQTISR	NKPSGITRGQ	IVGTPGSSGE
250	260	270	280	290	300
TTQPICVEAF	SGLRLRRPRV	SSTEMNKKMT	GRKLIRLSQI	KEKMAREKLE	EIDWVTFGVI
310	320	330	340	350	360
LKKVTPQSVN	SGKTFSIWKL	NDLRDLTQCV	SLFLFGEVHK	ALWKTEQGTV	VGILNANPMK
370	380	390	400	410	420
PKDGSEEVCL	SIDHPQKVLI	MGEALDLGTC	KAKKKNGEPC	TQTVNLRDCE	YCQYHVQAQY
430	440	450	460	470	480
KKLSAKRADL	QSTFSGGRIP	KKFARRGTSL	KERLCQDGFY	YGGVSSASYA	ASIAAAVAPK
490	500	510	520	530	540
KKIQTTLSNL	VVKGTNLIIQ	ETRQKLGIPQ	KSLSCSEEFK	ELMDLPTCGA	RNLKQHLAKA
550	560	570	580	590	600
TASGIMGSPK	PAIKSISASA	LLKQQKQRML	EMRRRKSEEI	QKRFLQSSSE	VESPAVPSSS
610	620	630	640	650	660
RQPPAQPPRT	GSEFPRLEGA	PATMTPKLGR	GVLEGDDVLF	YDESPPPRPK	LSALAEAKKL
670	680	690	700	710	720
AAITKLRAKG	QVLTKTNPNS	IKKKQKDPQD	ILEVKERVEK	NTMFSSQAED	ELEPARKKRR
730	740	750	760	770	780
EQLAYLESEE	FQKILKAKSK	HTGILKEAEA	EMQERYFEPL	VKKEQMEEKM	RNIREVKCRV
790	800	810	820	830	840
VTCKTCAYTH	FKLLETCVSE	QHEYHWHDGV	KRFFKCPCGN	RSISLDRLPN	KHCSNCGLYK
850	860	870
WERDGMLKEK	TGPKIGGETL	LPRGEEHAKF	LNSLK