AiPD: Autoinhibited Protein Database

Q6P4Q7

Gene name	CNNM4 (ACDP4, KIAA1592)
Protein name	Metal transporter CNNM4
Names	Ancient conserved domain-containing protein 4, Cyclin-M4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26504
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

302-384 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

302-384 (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

3 structures for Q6P4Q7

Entry ID	Method	Resolution	Chain	Position	Source
6G52	X-ray	369 A	A/B/C/D/E/F/G/H/I	545-730	PDB
6RS2	X-ray	369 A	A/B/C/D	359-511	PDB
AF-Q6P4Q7-F1	Predicted				AlphaFoldDB

565 variants for Q6P4Q7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001861160 rs886056471 CA10614244 RCV000406660	21	L>V	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs760633483 CA1783154 RCV000357522 RCV000374851 RCV002519311	31	W>R	Jalili syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001057209 CA1783180 RCV000356545 rs138690324	85	N>D	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1320684566 CA347712777 RCV001143490	95	E>Q	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000298433 rs148129550 RCV001519643 CA1783209	145	M>T	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA347713830 RCV001136913 rs1416575882	149	A>S	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002543801 RCV001320513 CA1783218 rs777028877	159	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001043899 RCV000369415 CA1783230 rs146760430 RCV002523148	186	I>V	Jalili syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_058319	196	S>P	JALIS [UniProt]	Yes	UniProt
rs79424354 CA115783 VAR_058320 RCV000002985	200	S>Y	Jalili syndrome JALIS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs2078763986 RCV001075625 RCV002554763	205	G>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2078764558 RCV001073840	217	V>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_058321 RCV000002982 CA115779 rs75267011	236	R>Q	Jalili syndrome JALIS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1574047005 RCV001029859 CA347715036	261	L>P	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs150269409 CA1783261 RCV000330066 RCV001225522	263	N>S	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs74552543 VAR_058322 RCV000002983 CA115780	324	L>P	Jalili syndrome JALIS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs2078769353 RCV001136914	349	E>K	Jalili syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002546919 rs373387856 RCV001340924 CA1783304	402	E>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1574047454 CA347716913 RCV000855673	407	R>L	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001136915 RCV001227620 CA1783314 rs778131831	425	K>T	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs746879923 RCV000786951	438	L>missing	Jalili syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001856747 CA1783325 RCV001136916 rs774130429	438	L>V	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs886056475 RCV000271519 CA10616455	492	G>S	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA347702518 rs776159012 RCV001002983	498	D>E	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002546042 RCV001139158 CA1783378 rs140192152 RCV000953674	514	M>T	Jalili syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA347702860 RCV000499392 rs1455470131	519	R>*	Jalili syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV001300859 rs750374054 CA1783404 COSM1023985 RCV001139159	523	R>Q	Variant assessed as Somatic; 0.0 impact. Jalili syndrome endometrium [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001141776 CA347703418 rs1163207281	557	F>L	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs80100937 RCV002512690 RCV000002984 CA115781	564	Q>*	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV000677261 CA347704721 rs1432600424	581	Y>*	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1350824280 RCV001141777 CA347704803	593	H>Q	Jalili syndrome [ClinVar]	Yes	ClinVar dbSNP ClinGen TOPMed gnomAD
RCV001141778 CA1783470 rs201310811 RCV001236013	598	A>T	Variant assessed as Somatic; 0.0 impact. Jalili syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs144495984 CA1783513 RCV002519996 RCV000340551 RCV001056597	648	P>S	Jalili syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA347708460 RCV001143588 RCV001325733 rs756301978	651	R>C	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs552453867 CA1783601 RCV001850818 RCV000341661	713	R>W	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs75559353 RCV000002986 RCV001387136 CA115784	717	Q>*	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1783607 RCV002032359 RCV001143590 rs771341175	724	R>H	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1783615 RCV000297215 rs201290867	740	M>V	Jalili syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002523149 RCV000337985 CA1783625 rs200775112 RCV000522064	752	V>G	Jalili syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002553719 RCV001049635 CA1783624 rs373978823	752	V>M	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2079238946 RCV001137015	766	L>V	Jalili syndrome [ClinVar]	Yes	ClinVar dbSNP
CA347710356 rs1432236198	6	G>W		No	ClinGen TOPMed
rs2078754957 RCV001055412	7	G>S		No	ClinVar dbSNP
rs780315787 CA1783146	9	R>L		No	ClinGen ExAC
rs984056715 CA52466534	10	P>L		No	ClinGen TOPMed
rs984056715 CA347710411	10	P>Q		No	ClinGen TOPMed
rs1171352404 CA347710435	12	G>C		No	ClinGen gnomAD
CA347710450 rs1248480107	13	G>*		No	ClinGen TOPMed
RCV001305875 CA347710445 rs1248480107	13	G>R		No	ClinGen ClinVar TOPMed dbSNP
rs927166486 CA52466541	14	P>A		No	ClinGen TOPMed gnomAD
rs1252340810 RCV001230997 CA347710495	15	A>S		No	ClinGen ClinVar TOPMed dbSNP
RCV001230215 CA347710525 rs1366713398	16	R>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1783147 rs749421585	18	R>S		No	ClinGen ExAC gnomAD
rs768743148 CA1783148	19	L>H		No	ClinGen ExAC gnomAD
CA1783149 rs779255870	22	A>V		No	ClinGen ExAC TOPMed
rs747827236 CA1783150	23	A>T		No	ClinGen ExAC gnomAD
rs771910068 CA1783152	24	P>Q		No	ClinGen ExAC
CA347710689 rs1248946980	26	L>R		No	ClinGen gnomAD
CA347710686 rs1204753306	26	L>V		No	ClinGen gnomAD
CA52466615 rs916896790	27	L>P		No	ClinGen TOPMed
rs1191837197 RCV001295918	31	W>missing		No	ClinVar dbSNP
CA1783155 rs770893270	32	A>S		No	ClinGen ExAC TOPMed gnomAD
CA347710766 rs770893270	32	A>T		No	ClinGen ExAC TOPMed gnomAD
rs113347008 CA52466617	33	L>V		No	ClinGen Ensembl
RCV001247229 rs1452851536 CA347710808	35	A>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs368857537 CA1783157	36	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV001296416 rs1366603910 CA347710880	38	Q>H		No	ClinGen ClinVar dbSNP gnomAD
CA347710855 rs1291619309	38	Q>K		No	ClinGen TOPMed gnomAD
CA52466629 rs373447186	38	Q>L		No	ClinGen ESP TOPMed gnomAD
CA347710894 rs1302093286	39	G>D		No	ClinGen gnomAD
CA347710903 rs1574046003	40	S>G		No	ClinGen Ensembl
RCV001240841 CA347710958 rs1220287218	41	P>R		No	ClinGen ClinVar dbSNP gnomAD
CA347711004 rs1574046032	44	G>C		No	ClinGen Ensembl
rs1184133806 CA347711024	45	T>K		No	ClinGen TOPMed
CA52466635 rs867861903	46	I>T		No	ClinGen Ensembl
rs1236641859 CA347711062	47	V>M		No	ClinGen TOPMed
rs148013233 CA1783160	49	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA347711110 rs148013233	49	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA52466650 rs1000298489	50	R>T		No	ClinGen TOPMed
rs750922469 CA1783163	52	A>G		No	ClinGen ExAC gnomAD
rs375291045 CA1783165	55	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1574046108 CA347711325	58	C>W		No	ClinGen Ensembl
RCV001243358 CA1783167 rs755155971	60	T>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1418278516 CA347711416	61	N>T		No	ClinGen TOPMed gnomAD
rs1050651948 CA52466661	62	P>A		No	ClinGen TOPMed
CA347711436 rs1413652802	62	P>L		No	ClinGen gnomAD
rs748421182 CA347711446	63	D>H		No	ClinGen ExAC gnomAD
CA1783169 rs748421182	63	D>N		No	ClinGen ExAC gnomAD
rs1324850511 CA347711492	65	I>V		No	ClinGen gnomAD
CA1783170 rs758086016	66	I>V		No	ClinGen ExAC gnomAD
rs2078757718 RCV001326140	69	S>A		No	ClinVar dbSNP
CA347711593 rs1438063768	69	S>C		No	ClinGen gnomAD
CA52466686 rs373324492	70	E>G		No	ClinGen Ensembl
rs1295801213 CA347711596	70	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1783172 rs781726528	71	G>D		No	ClinGen ExAC TOPMed gnomAD
CA347711615 rs1449417332	72	S>G		No	ClinGen TOPMed
CA52466715 rs1036739341	75	N>K		No	ClinGen TOPMed gnomAD
CA1783174 rs776615999	76	L>R		No	ClinGen ExAC TOPMed gnomAD
rs745308041 CA1783175	77	R>K		No	ClinGen ExAC gnomAD
CA347712524 rs1289489092 CA347712523	77	R>S		No	ClinGen gnomAD
CA1783176 rs769360363	78	L>P		No	ClinGen ExAC gnomAD
rs1231035201 RCV001242036 CA347712552	80	G>C		No	ClinGen ClinVar dbSNP gnomAD
rs1231035201 CA347712551	80	G>R		No	ClinGen gnomAD
rs886056474 CA347712574	81	Y>*		No	ClinGen TOPMed gnomAD
CA1783178 rs369862845	81	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA347712561 rs1482694780	81	Y>H		No	ClinGen gnomAD
CA52466755 rs770350022	82	S>N		No	ClinGen Ensembl
rs761184384 CA1783181	88	S>R		No	ClinGen ExAC gnomAD
rs2078758552 RCV001207136	89	N>S		No	ClinVar dbSNP
rs889522333 CA52466761	90	L>P		No	ClinGen TOPMed gnomAD
RCV001232686 rs2078758805	94	T>missing		No	ClinVar dbSNP
CA52466780 rs993589916	94	T>P		No	ClinGen TOPMed
CA347712791 rs1574046271	96	V>G		No	ClinGen Ensembl
rs754378710 CA1783183	96	V>L		No	ClinGen ExAC gnomAD
rs373380795 CA1783184	97	D>N		No	ClinGen ESP ExAC gnomAD
CA1783185 rs765386259	98	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1783187 rs544333967	102	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs983983319 CA52466804	103	H>Q		No	ClinGen TOPMed
rs778025385 CA1783188	105	S>F		No	ClinGen ExAC gnomAD
CA347712993 rs1276760417	106	T>A		No	ClinGen gnomAD
rs1186590777 CA347713021	107	S>I		No	ClinGen gnomAD
RCV000300297 rs138520397 CA1783190	109	L>F		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs138520397 CA347713068	109	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA347713151 rs1388977149 RCV001338704	114	D>N		No	ClinGen ClinVar dbSNP gnomAD
rs368862739 CA52466864	117	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1783193 rs368862739	117	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs775036266 CA1783195	118	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs775036266 CA1783194	118	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA52466891 rs999429293	121	V>I		No	ClinGen Ensembl
rs561036245 CA347713330	122	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561036245 CA1783197	122	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1406858300 CA347713335	123	V>M		No	ClinGen TOPMed
TCGA novel	125	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	125	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA52466914 rs17855817 VAR_033365	126	G>R		No	ClinGen UniProt Ensembl dbSNP
CA347713433 rs1574046409	128	T>A		No	ClinGen Ensembl
TCGA novel	129	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA52466925 rs370665884	130	G>S		No	ClinGen Ensembl
rs1574046448 CA347713545	134	V>G		No	ClinGen Ensembl
VAR_035946	134	V>L	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs745779788 CA52466930	135	L>F		No	ClinGen Ensembl
CA1783201 rs765710051	136	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1783202 rs752806783	137	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1265638760 CA347713639	139	L>I		No	ClinGen TOPMed
CA347713665 rs1189944514	140	R>Q		No	ClinGen gnomAD
CA1783206 rs756997497	140	R>W		No	ClinGen ExAC gnomAD
RCV001317464 CA1783208 rs370486600	143	E>D		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA347713740 rs1228328853	144	S>G		No	ClinGen TOPMed
CA347713755 rs1366538204	145	M>V		No	ClinGen TOPMed
rs1403331101 CA347713782	146	K>R		No	ClinGen gnomAD
rs889281402 CA52466960	147	L>Q		No	ClinGen TOPMed gnomAD
rs768290533 CA1783212	153	R>P		No	ClinGen ExAC TOPMed gnomAD
RCV001297170 CA347713882 rs768290533	153	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1435833388 CA347713875	153	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347713906 rs1368653326	154	A>V		No	ClinGen gnomAD
rs778656128 CA1783213	155	Q>H		No	ClinGen ExAC gnomAD
CA347713927 rs1574046560	156	P>T		No	ClinGen Ensembl
rs560847070 CA1783216	158	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA347713983 rs1384320008	160	W>S		No	ClinGen gnomAD
CA1783219 rs759874330	162	K>T		No	ClinGen ExAC gnomAD
rs1210003751 CA347714047	163	W>C		No	ClinGen gnomAD
rs1230555440 CA347714052	164	T>A		No	ClinGen TOPMed gnomAD
CA347714057 rs1321502470	165	D>N		No	ClinGen gnomAD
CA347714069 rs1450589664	166	K>E		No	ClinGen gnomAD
CA347714073 rs1574046617	166	K>R		No	ClinGen Ensembl
CA347714093 rs1574046638	167	D>A		No	ClinGen Ensembl
CA1783220 rs770328147	167	D>E		No	ClinGen ExAC
CA347714086 rs1198758175	167	D>N		No	ClinGen gnomAD
CA347714110 rs1368481943	168	S>L		No	ClinGen TOPMed
rs1378786764 CA347714103	168	S>P		No	ClinGen gnomAD
CA52467004 rs945013257	170	L>V		No	ClinGen TOPMed
rs1479173738 CA347714160	172	M>I		No	ClinGen gnomAD
rs775865145 CA1783221	173	V>M		No	ClinGen ExAC gnomAD
RCV001301276 rs2078762598	174	E>V		No	ClinVar dbSNP
rs1391945255 CA347714202	175	E>D		No	ClinGen TOPMed
CA347714208 rs1558976503	176	P>S		No	ClinGen Ensembl
CA347714231 rs1411454015	177	G>E		No	ClinGen gnomAD
RCV001352390 rs2078762782	177	G>R		No	ClinVar dbSNP
RCV001247210 CA1783222 rs373487333	178	R>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA347714250 rs1386339696	179	F>S		No	ClinGen gnomAD
CA347714247 rs1574046691	179	F>V		No	ClinGen Ensembl
RCV001207487 rs376702001 CA1783225	181	P>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs755932169 CA1783228	183	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1783227 rs552814825	183	W>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1558976548 CA347714291	184	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA52467048 rs897829700	185	H>N		No	ClinGen TOPMed
CA347714303 rs1270947306	185	H>Q		No	ClinGen gnomAD
rs144179610 CA1783229	185	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	189	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347714375 rs1251511770	194	V>A		No	ClinGen gnomAD
rs1161624297 CA347714395	196	S>*		No	ClinGen gnomAD
rs933665899 CA52467080	198	I>V		No	ClinGen Ensembl
TCGA novel	204	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1307384263 CA347714489	206	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA52467109 rs1050712428	207	M>I		No	ClinGen Ensembl
rs2078764226 RCV001212577	208	A>D		No	ClinVar dbSNP
CA347714521 rs1339524058	209	L>M		No	ClinGen gnomAD
rs1244821759 CA347714540	211	P>S		No	ClinGen gnomAD
rs1348848000 CA347714563	213	E>Q		No	ClinGen TOPMed
CA1783239 rs146923909	215	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs763483009 CA347714618	218	Q>H		No	ClinGen ExAC gnomAD
rs769192111 CA1783241	219	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1184788276 CA347714637	220	C>Y		No	ClinGen gnomAD
CA1783243 rs761941296	224	K>N		No	ClinGen ExAC
rs1465422138 CA347714722	228	Y>C		No	ClinGen TOPMed
CA347714730 rs1370234996	229	A>G		No	ClinGen TOPMed gnomAD
CA347714726 rs1188285945	229	A>T		No	ClinGen gnomAD
rs1370234996 CA347714731	229	A>V		No	ClinGen TOPMed gnomAD
CA52467154 rs147976284	230	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs760464330 CA1783246	230	R>H		No	ClinGen ExAC TOPMed
rs760464330 CA1783248	230	R>L		No	ClinGen ExAC TOPMed
CA347714759 rs1447797974	232	I>M		No	ClinGen TOPMed gnomAD
TCGA novel	232	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	237	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347714806 rs1371094707	237	R>L		No	ClinGen gnomAD
CA52467164 rs762874791	238	K>E		No	ClinGen Ensembl
rs1300890772 CA347714880	244	C>S		No	ClinGen gnomAD
CA236059 rs786205530 RCV000171299	245	S>L		No	ClinGen ClinVar Ensembl dbSNP
CA52467193 rs2680925	249	G>A		No	ClinGen Ensembl
CA1783253 rs757849001	249	G>R		No	ClinGen ExAC gnomAD
CA347714954 rs1343512131	252	L>M		No	ClinGen gnomAD
CA1783258 rs749703825	255	T>A		No	ClinGen ExAC gnomAD
CA1783259 rs763749179 RCV001345461	258	T>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA347715007 rs763749179	258	T>P		No	ClinGen ExAC gnomAD
CA347715015 rs1188024040	259	I>V		No	ClinGen gnomAD
rs1390661875 CA347715033	261	L>V		No	ClinGen TOPMed gnomAD
CA52467243 rs56246512	262	D>Y		No	ClinGen Ensembl
rs1310238788 CA347715060	263	N>K		No	ClinGen TOPMed
TCGA novel	264	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	265	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs935793378 CA52467251	266	G>E		No	ClinGen TOPMed
rs773439754 CA1783263	266	G>R		No	ClinGen ExAC gnomAD
CA347715100 rs760772919	268	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1043975317 CA52467258	268	G>S		No	ClinGen TOPMed
CA1783264 rs760772919	268	G>V		No	ClinGen ExAC TOPMed gnomAD
CA52467274 rs559372337	270	M>I		No	ClinGen Ensembl
rs1574047064 CA347715141	272	V>G		No	ClinGen Ensembl
rs1574047070 CA347715149	273	A>G		No	ClinGen Ensembl
CA347715152 rs1386147454	274	S>A		No	ClinGen gnomAD
rs1574047076 CA347715169	276	T>P		No	ClinGen Ensembl
rs776551771 CA1783266	277	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1185854529 CA347715232	282	F>C		No	ClinGen TOPMed
CA347715234 rs903670676	282	F>L		No	ClinGen TOPMed gnomAD
rs1574047122 CA347715303	290	L>P		No	ClinGen Ensembl
CA1783271 rs763543912	298	V>L		No	ClinGen ExAC gnomAD
RCV001349220 rs2078768060	304	L>R		No	ClinVar dbSNP
CA1783272 rs751120696	307	K>R		No	ClinGen ExAC gnomAD
rs1463622702 CA347715461	308	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA347715493 rs1266663105	311	L>P		No	ClinGen gnomAD
TCGA novel	313	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347715514 rs1409249674	314	F>I		No	ClinGen gnomAD
CA347715528 rs1445089135	315	P>S		No	ClinGen TOPMed gnomAD
rs1353096191 CA347715539	316	L>P		No	ClinGen TOPMed
TCGA novel	316	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1783276 rs755344155	317	S>C		No	ClinGen ExAC gnomAD
CA347715545 rs1282279862	317	S>T		No	ClinGen TOPMed
CA347715567 rs1390173442	319	P>L		No	ClinGen gnomAD
rs139582999 CA347715590	321	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367842804 CA1783278 RCV001053604	323	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA347715618 rs1290639881	325	D>N		No	ClinGen gnomAD
rs1367536688 CA347715631	326	F>I		No	ClinGen TOPMed gnomAD
rs201014887 CA1783279	326	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	327	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1285621438 CA347715641	327	F>L		No	ClinGen gnomAD
CA347715676 rs1227997151	330	Q>H		No	ClinGen gnomAD
CA52467355 rs1014216906	333	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347715704 rs1318803977	333	R>L		No	ClinGen gnomAD
rs146068349 CA1783281	338	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA347715761 rs146068349	338	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	343	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347715864 rs1249307299	344	M>K		No	ClinGen gnomAD
TCGA novel	344	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347715865 rs1249307299	344	M>T		No	ClinGen gnomAD
rs1182434503 CA347715921	348	T>K		No	ClinGen gnomAD
COSM1718445 CA52467360 rs970585969	350	P>S	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1783284 rs759393159	351	Y>C		No	ClinGen ExAC gnomAD
rs2078769539 RCV001230207	352	N>K		No	ClinVar dbSNP
CA347716107 rs1349006932	358	E>*		No	ClinGen TOPMed gnomAD
TCGA novel	358	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347716103 rs1349006932	358	E>K		No	ClinGen TOPMed gnomAD
CA1783287 rs762759439	359	L>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA347716147 rs1448996764	360	N>H		No	ClinGen TOPMed
CA1783289 rs750975187	360	N>S		No	ClinGen ExAC gnomAD
rs2078769875 RCV001302276	363	Q>R		No	ClinVar dbSNP
CA1783290 rs761389793	364	G>D		No	ClinGen ExAC gnomAD
CA52467398 rs879113633	367	E>K		No	ClinGen Ensembl
CA347716348 rs1224599837 RCV001343679	370	T>I		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	371	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272462209 CA347716383	372	T>I		No	ClinGen TOPMed gnomAD
RCV001064555 CA347716386 rs1272462209	372	T>N		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1783291 rs767150819	374	E>D		No	ClinGen ExAC gnomAD
CA347716422 rs1356825650	374	E>V		No	ClinGen TOPMed
rs1293590460 CA347716439	375	D>G		No	ClinGen TOPMed
rs1205626284 CA347716540	379	Q>*		No	ClinGen gnomAD
rs750131157 CA1783292	380	L>H		No	ClinGen ExAC gnomAD
rs779286593 CA1783294	381	Q>*		No	ClinGen ExAC
rs753131847 CA1783295	385	M>V		No	ClinGen ExAC gnomAD
rs1413863280 CA347716663	386	I>T		No	ClinGen gnomAD
CA52467414 rs56190267	388	S>R		No	ClinGen Ensembl
CA1783296 rs758776909	390	A>V		No	ClinGen ExAC gnomAD
CA1783299 rs771195081	393	D>E		No	ClinGen ExAC gnomAD
CA347716758 rs1176714318	395	N>S		No	ClinGen gnomAD
rs375283671 CA1783300	398	S>L		No	ClinGen ESP ExAC gnomAD
CA1783301 rs746133223	399	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1783303 rs775098226	400	I>V		No	ClinGen ExAC gnomAD
rs2078771024 RCV001234452	401	M>T		No	ClinVar dbSNP
rs774411465 CA1783306	403	S>I		No	ClinGen ExAC gnomAD
TCGA novel	406	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347716909 rs1274822757	407	R>C		No	ClinGen gnomAD
rs1440538657 CA347716983	412	E>K		No	ClinGen gnomAD
rs767059270 CA1783308	413	D>H		No	ClinGen ExAC gnomAD
CA347717003 rs767059270	413	D>N		No	ClinGen ExAC gnomAD
TCGA novel	414	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750042828 CA1783309	415	Q>E		No	ClinGen ExAC gnomAD
CA1783310 rs372360561	420	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1783312 rs752941116	421	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1783311 rs374938189	421	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA52467479 rs972872559	423	Y>H		No	ClinGen gnomAD
rs1169036115 CA347717151	423	Y>S		No	ClinGen gnomAD
rs1245015222 CA347717207	426	D>A		No	ClinGen TOPMed
TCGA novel	428	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1783315 rs752158846	429	F>S		No	ClinGen ExAC gnomAD
rs1318657458 CA347717303	432	P>A		No	ClinGen gnomAD
RCV001092737 rs2078772292	433	D>missing		No	ClinVar dbSNP
rs770083154 CA1783319	433	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs543996339 CA1783320	434	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA347717359 rs1342602438	435	C>Y		No	ClinGen gnomAD
CA347717386 rs1278824021	436	T>I		No	ClinGen gnomAD
CA347717372 rs1574047551	436	T>P		No	ClinGen Ensembl
rs768550900 CA1783324	437	P>A		No	ClinGen ExAC TOPMed gnomAD
rs369248403 CA52467505	437	P>L		No	ClinGen ESP
CA347717400 rs369248403	437	P>R		No	ClinGen ESP
rs746879923	438	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA52467514 rs112536463	440	T>I		No	ClinGen Ensembl
rs1194504128 CA347717472	441	I>M		No	ClinGen gnomAD
CA52467529 rs770879556	441	I>T		No	ClinGen Ensembl
CA1783328 rs772023576	445	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772655867 CA1783329	446	N>K		No	ClinGen ExAC gnomAD
CA1783331 rs372828975	447	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA52467540 rs1043494533	448	P>R		No	ClinGen Ensembl
CA347717596 rs1228093913	449	V>M		No	ClinGen gnomAD
CA1783333 rs763208011	450	H>R		No	ClinGen ExAC
rs1435989784 CA347717714	454	H>R		No	ClinGen gnomAD
CA347717764 rs1233589629	457	K>N		No	ClinGen TOPMed
CA347717778 rs1558977588	459	D>N		No	ClinGen Ensembl
CA1783336 rs757791003	461	M>T		No	ClinGen ExAC TOPMed gnomAD
CA347717838 rs1226167874	464	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1783338 rs750460815	464	E>K		No	ClinGen ExAC gnomAD
rs935167628 CA52467602	466	K>N		No	ClinGen TOPMed gnomAD
rs1490922932 CA347702156	474	I>V		No	ClinGen gnomAD
CA347702172 rs1251287993	475	V>M		No	ClinGen gnomAD
rs779011091 RCV001341864 CA1783362	481	E>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1164130353 CA347702296	482	G>D		No	ClinGen gnomAD
rs2079110220 RCV001240195	483	E>V		No	ClinVar dbSNP
rs747935630 CA1783363	484	G>V		No	ClinGen ExAC gnomAD
rs1396996990 CA347702400	490	V>F		No	ClinGen gnomAD
rs1331854996 CA347702467	495	T>I		No	ClinGen TOPMed gnomAD
CA347702524 rs1362245527	499	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347702548 rs144915228	500	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347702552 rs1274333673	501	E>K		No	ClinGen gnomAD
rs769421432 CA1783371	502	E>K		No	ClinGen ExAC TOPMed gnomAD
rs769421432 CA347702572	502	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1197765542 CA347702599	503	I>M		No	ClinGen gnomAD
rs1558993036 CA347702608	504	I>S		No	ClinGen Ensembl
rs1254416939 CA347702604	504	I>V		No	ClinGen gnomAD
rs758239637 COSM1023984 CA1783372	506	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1783376 rs373431230	512	S>F		No	ClinGen ESP ExAC gnomAD
rs1300644760 CA347702744	514	M>I		No	ClinGen gnomAD
rs140192152 CA1783379	514	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377732004 CA1783380	515	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	515	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558993257 CA347702821	516	T>I		No	ClinGen Ensembl
rs752807120 CA347702847	518	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1783398 rs752807120	518	N>T		No	ClinGen ExAC TOPMed gnomAD
rs764314767 CA1783400	519	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs148365594 CA1783402	521	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1783401 RCV001343072 rs772498225	521	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs145764649 CA1783403	523	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1574078800 CA347702935	524	V>G		No	ClinGen Ensembl
CA347702923 rs1449605665	524	V>M		No	ClinGen gnomAD
rs950027489 CA52451186	525	S>P		No	ClinGen Ensembl
CA347702944 rs1409504281	525	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA347702960 rs1574078821	526	E>G		No	ClinGen Ensembl
CA347702951 rs1558993310	526	E>K		No	ClinGen Ensembl
CA1783406 rs755653851	528	N>I		No	ClinGen ExAC TOPMed gnomAD
CA347702997 rs755653851	528	N>S		No	ClinGen ExAC TOPMed gnomAD
rs775648616 RCV001296026 COSM1023986 CA1783408	530	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA1783409 rs768361992	530	R>H		No	ClinGen ExAC gnomAD
CA1783410 rs768361992	530	R>L		No	ClinGen ExAC gnomAD
CA347703025 rs775648616	530	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1201132762 CA347703050	531	D>E		No	ClinGen gnomAD
rs2079115409 RCV001036287	531	D>G		No	ClinVar dbSNP
CA347703083 rs1409320599	533	S>C		No	ClinGen gnomAD
rs1006079657 CA52451302	537	D>A		No	ClinGen TOPMed
CA347703154 rs1456195871	537	D>Y		No	ClinGen gnomAD
CA347703177 rs771253370	538	A>E		No	ClinGen ExAC TOPMed gnomAD
CA1783411 rs747389796	538	A>S		No	ClinGen ExAC gnomAD
CA1783412 rs771253370	538	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1365335257 CA347703192	539	D>A		No	ClinGen gnomAD
rs1292351578 CA347703190	539	D>Y		No	ClinGen gnomAD
rs746322998 CA1783414	541	E>K		No	ClinGen ExAC gnomAD
TCGA novel	543	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055800062 CA52451364	544	V>L		No	ClinGen TOPMed
CA1783415 rs201332826	547	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA1783416 RCV001227569 rs761236064	548	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA347703401 rs1490433984	553	A>V		No	ClinGen gnomAD
rs764294792 CA1783418	554	A>S		No	ClinGen ExAC TOPMed gnomAD
rs764294792 CA1783419	554	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1783420 rs761645419	554	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1177467312 CA347703411	555	H>Q		No	ClinGen gnomAD
CA1783421 rs767254813	556	R>C		No	ClinGen ExAC gnomAD
rs1421613481 CA347703416	556	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767254813 CA347703413	556	R>S		No	ClinGen ExAC gnomAD
rs374104702 CA52451402	558	L>V		No	ClinGen ESP TOPMed gnomAD
CA347704634 rs1206301449	567	P>A		No	ClinGen TOPMed gnomAD
rs749831932 CA1783452	568	S>C		No	ClinGen ExAC gnomAD
rs1294562385 CA347704644	569	L>M		No	ClinGen TOPMed
CA1783453 rs769235428	574	I>T		No	ClinGen ExAC TOPMed gnomAD
rs773546305 CA1783457	577	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772115686 CA1783456	577	R>W		No	ClinGen ExAC TOPMed gnomAD
rs760527932 CA1783458	579	L>I		No	ClinGen ExAC gnomAD
rs770894531 CA1783459	581	Y>C		No	ClinGen ExAC gnomAD
rs1401192104 CA347704734	583	D>E		No	ClinGen gnomAD
CA347704740 rs1268189936	584	V>G		No	ClinGen TOPMed
rs199703846 CA1783460	584	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1783461 rs759501298	586	Q>*		No	ClinGen ExAC gnomAD
rs765234939 CA1783462	586	Q>R		No	ClinGen ExAC gnomAD
rs752082912 CA1783463	587	E>*		No	ClinGen ExAC TOPMed gnomAD
rs752082912 CA1783464	587	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1347038466 CA347704774	590	F>I		No	ClinGen gnomAD
TCGA novel	591	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751261044 CA1783466	592	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA52453063 rs996702633	594	N>D		No	ClinGen TOPMed
RCV001352074 CA1783467 rs756439848	594	N>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs996702633 CA347704805	594	N>Y		No	ClinGen TOPMed
rs201310811 CA1783471	598	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs990677578 CA52453101	599	R>C		No	ClinGen TOPMed gnomAD
rs374698559 RCV001071060 CA1783472	599	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1410762925 CA347704849	600	H>Q		No	ClinGen TOPMed
CA347704847 rs1179983987	600	H>R		No	ClinGen gnomAD
rs1363285948 CA347704862	602	L>P		No	ClinGen gnomAD
rs778112709 CA1783474	604	T>N		No	ClinGen ExAC TOPMed gnomAD
CA52453136 COSM1669149 rs1021713187	605	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1783475 rs369263433 RCV001057259	605	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA52453144 rs987112650	606	N>S		No	ClinGen TOPMed
CA1783477 RCV001065300 rs776513564	608	P>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs762347010 CA1783481	610	D>N		No	ClinGen ExAC gnomAD
CA1783483 rs751101364	611	Y>*		No	ClinGen ExAC gnomAD
rs948502204 CA52453598	619	K>N		No	ClinGen TOPMed
CA52453589 RCV001318593 rs554361973	619	K>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1469870672 CA347705133	621	E>K		No	ClinGen gnomAD
TCGA novel	624	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380850081 CA347705217	625	G>R		No	ClinGen gnomAD
rs1275540004 CA347705255	627	E>G		No	ClinGen TOPMed
CA347705298 rs1220681738	629	M>V		No	ClinGen TOPMed gnomAD
rs765600437 CA52453641	633	T>K		No	ClinGen ExAC TOPMed gnomAD
RCV001319382 rs765600437 CA1783506	633	T>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA347705431 rs1304707214	634	G>D		No	ClinGen TOPMed gnomAD
rs202126569 CA1783510 RCV001064179	635	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA347705497 rs1204534532	637	S>F		No	ClinGen gnomAD
CA347705515 rs1558994847	638	Y>C		No	ClinGen Ensembl
CA347705542 rs1370941471	639	Y>C		No	ClinGen TOPMed
CA347705557 rs1196747867	640	G>E		No	ClinGen gnomAD
rs2079140400 RCV001341794	641	T>S		No	ClinVar dbSNP
COSM1690792 rs908185848 CA52453688	646	S>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs144495984 CA1783514	648	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA347708454 rs1574089022	650	D>A		No	ClinGen Ensembl
rs749049820 RCV001060444 CA1783516	650	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1783531 rs756301978	651	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1783532 rs150945852	651	R>H	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	651	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754822043 CA1783534	653	P>L		No	ClinGen ExAC gnomAD
CA347708483 rs1574089044	655	H>P		No	ClinGen Ensembl
rs778797812 CA1783535	656	P>A		No	ClinGen ExAC TOPMed gnomAD
CA347708489 rs778797812	656	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1574089058 CA347708493	657	T>P		No	ClinGen Ensembl
CA1783538 rs777282205	658	P>L		No	ClinGen ExAC gnomAD
CA347708508 rs1479993478	659	L>R		No	ClinGen gnomAD
rs746511017 RCV001248308 CA1783539	661	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs368409976 RCV001244714 CA52460748	661	R>H		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs770616265 CA1783541	662	S>*		No	ClinGen ExAC gnomAD
RCV001315455 rs770616265	662	S>L		No	ClinVar dbSNP
rs1360036501 CA347708534	664	S>P		No	ClinGen TOPMed
TCGA novel	665	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs558931421 RCV001301784 CA1783543	670	R>C		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs769185337 CA1783544	670	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1023988 rs558931421 CA347708575	670	R>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
RCV001245558 CA1783545 rs774886052	671	T>I		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1558998905 CA347708579	671	T>P		No	ClinGen Ensembl
rs762359675 CA347708593	673	V>F		No	ClinGen ExAC TOPMed gnomAD
rs762359675 RCV001204555 CA1783547	673	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel	674	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1783550 rs569387682	676	A>V		No	ClinGen 1000Genomes ExAC
CA1783551 rs750449161	677	A>E		No	ClinGen ExAC TOPMed gnomAD
rs766606277 CA1783553	678	T>A		No	ClinGen ExAC gnomAD
CA1783554 rs754054050	678	T>I		No	ClinGen ExAC TOPMed gnomAD
RCV001063539 rs764389965	678	T>missing		No	ClinVar dbSNP
rs766606277 CA347708619	678	T>P		No	ClinGen ExAC gnomAD
RCV001244615 rs536756508 CA1783555	681	G>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs778634067 CA1783556	682	S>N		No	ClinGen ExAC gnomAD
CA347708658 rs1259411178	684	N>Y		No	ClinGen gnomAD
rs752504830 CA1783557	685	Q>K		No	ClinGen ExAC gnomAD
CA1783558 rs758268994	685	Q>R		No	ClinGen ExAC gnomAD
RCV001246323 rs2079229855	688	S>T		No	ClinVar dbSNP
rs781192785 CA1783559	691	L>P		No	ClinGen ExAC gnomAD
rs1434113461 CA347708741	694	Y>C		No	ClinGen gnomAD
CA52460874 rs962856273	696	S>T		No	ClinGen Ensembl
rs1169299457 CA347708790	698	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748374767 CA1783561	700	V>I		No	ClinGen ExAC TOPMed gnomAD
CA347708832 rs1171467541	701	R>Q		No	ClinGen gnomAD
CA1783562 rs372182086 RCV001326592	701	R>W		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs1558999038 CA347708840	702	A>S		No	ClinGen Ensembl
rs769590753 CA1783565 COSM3963251	704	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs774796340 CA1783566	707	Q>*		No	ClinGen ExAC gnomAD
rs774796340 CA347708907	707	Q>E		No	ClinGen ExAC gnomAD
rs1406763673 CA347708915	707	Q>R		No	ClinGen gnomAD
rs1449908474 CA347708954	708	Y>S		No	ClinGen gnomAD
CA1783602 rs779826804	713	R>Q		No	ClinGen ExAC gnomAD
CA1783603 rs535936606	714	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs777947656 CA347709426 CA1783605	719	G>R		No	ClinGen ExAC gnomAD
CA1783606 rs747407815	723	S>F		No	ClinGen ExAC gnomAD
RCV001206713 CA347709509 rs1179786620	724	R>C		No	ClinGen ClinVar dbSNP gnomAD
rs771341175 CA347709513	724	R>L		No	ClinGen ExAC TOPMed gnomAD
CA347709516 rs771341175	724	R>P		No	ClinGen ExAC TOPMed gnomAD
CA347709503 rs1179786620	724	R>S		No	ClinGen gnomAD
CA1783608 rs777184356	725	M>V		No	ClinGen ExAC gnomAD
rs745930615 CA347709585	727	N>K		No	ClinGen ExAC gnomAD
rs1180491381 CA347709577	727	N>S		No	ClinGen gnomAD
rs769901850 CA1783610	728	S>R		No	ClinGen ExAC gnomAD
rs775579761 CA1783611	730	Q>R		No	ClinGen ExAC gnomAD
rs767652067 CA52461438	732	P>S		No	ClinGen Ensembl
CA52461443 rs143291469	733	I>T		No	ClinGen ESP TOPMed
rs1274665524 CA347709741	735	G>R		No	ClinGen TOPMed
rs1274665524 CA347709745	735	G>W		No	ClinGen TOPMed
RCV000953675 rs550956407	735	G>missing		No	ClinVar dbSNP
rs1574089831 CA347709761	736	C>G		No	ClinGen Ensembl
CA1783614 rs369431180	737	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1333027179 CA347709837	740	M>R		No	ClinGen TOPMed
RCV001321011 rs1333027179	740	M>T		No	ClinVar dbSNP
rs1329629617 CA347709842	741	E>Q		No	ClinGen TOPMed
RCV001327039 CA1783617 rs761733539	744	A>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1783620 rs760227635	745	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1783621 rs765943725 RCV001309868	748	E>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1172920383 CA347709898	749	L>V		No	ClinGen TOPMed
rs918154808 RCV001319899 CA52461494	750	P>S		No	ClinGen ClinVar TOPMed dbSNP
CA1783623 rs754522377	751	V>L		No	ClinGen ExAC gnomAD
CA1783627 rs781641928	754	E>K		No	ClinGen ExAC gnomAD
rs746334897 CA1783628	756	T>I		No	ClinGen ExAC gnomAD
CA1783629 rs558786237	757	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347709953 rs1396345606	759	L>I		No	ClinGen Ensembl
CA347709966 rs749389500	760	N>K		No	ClinGen ExAC TOPMed gnomAD
CA1783633 rs768755422	761	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1783632 rs768755422	761	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA1783634 rs761490730	762	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1783636 rs772029041	762	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1783635 rs772029041	762	R>P		No	ClinGen ExAC TOPMed gnomAD
CA347709987 rs1333893177	764	S>Y		No	ClinGen gnomAD
CA52461573 rs201284791	765	L>V		No	ClinGen 1000Genomes
rs760638293 CA1783637	766	L>Q		No	ClinGen ExAC gnomAD
rs1264029609 CA347710004	767	H>R		No	ClinGen TOPMed gnomAD
CA347710043 rs777938752	772	E>*		No	ClinGen ExAC TOPMed gnomAD
CA347710048 rs1334827335	772	E>G		No	ClinGen TOPMed
rs777938752 CA1783639	772	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1225508474 CA347710071	773	N>S		No	ClinGen TOPMed gnomAD
rs1269835667 RCV001371038 CA347710089	776	I>R		No	ClinGen ClinVar dbSNP gnomAD

1 associated diseases with Q6P4Q7

[MIM: 217080]: Jalili syndrome (JALIS)

A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta. {ECO:0000269|PubMed:19200525, ECO:0000269|PubMed:19200527}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta. {ECO:0000269|PubMed:19200525, ECO:0000269|PubMed:19200527}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q6P4Q7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q6P4Q7

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

3 GO annotations of molecular function

Name	Definition
magnesium ion transmembrane transporter activity	Enables the transfer of magnesium (Mg) ions from one side of a membrane to the other.
sodium ion transmembrane transporter activity	Enables the transfer of sodium ions (Na+) from one side of a membrane to the other.
transmembrane transporter activity	Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

6 GO annotations of biological process

Name	Definition
enamel mineralization	The process in which calcium salts, mainly carbonated hydroxyapatite, are deposited in tooth enamel.
magnesium ion homeostasis	Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell.
magnesium ion transport	The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
metal ion homeostasis	Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell.
response to stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism.
visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8NE01	CNNM3	Metal transporter CNNM3	Homo sapiens (Human)	PR
Q9H8M5	CNNM2	Metal transporter CNNM2	Homo sapiens (Human)	PR
Q3TWN3	Cnnm2	Metal transporter CNNM2	Mus musculus (Mouse)	PR
Q69ZF7	Cnnm4	Metal transporter CNNM4	Mus musculus (Mouse)	PR
P0C588	Cnnm4	Metal transporter CNNM4	Rattus norvegicus (Rat)	PR
Q8RY60	CBSDUF7	DUF21 domain-containing protein At1g47330	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAPVGGGGRP	VGGPARGRLL	LAAPVLLVLL	WALGARGQGS	PQQGTIVGMR	LASCNKSCGT
70	80	90	100	110	120
NPDGIIFVSE	GSTVNLRLYG	YSLGNISSNL	ISFTEVDDAE	TLHKSTSCLE	LTKDLVVQQL
130	140	150	160	170	180
VNVSRGNTSG	VLVVLTKFLR	RSESMKLYAL	CTRAQPDGPW	LKWTDKDSLL	FMVEEPGRFL
190	200	210	220	230	240
PLWLHILLIT	VLLVLSGIFS	GLNLGLMALD	PMELRIVQNC	GTEKERRYAR	KIEPIRRKGN
250	260	270	280	290	300
YLLCSLLLGN	VLVNTSLTIL	LDNLIGSGLM	AVASSTIGIV	IFGEILPQAL	CSRHGLAVGA
310	320	330	340	350	360
NTILLTKFFM	LLTFPLSFPI	SKLLDFFLGQ	EIRTVYNREK	LMEMLKVTEP	YNDLVKEELN
370	380	390	400	410	420
MIQGALELRT	KTVEDIMTQL	QDCFMIRSDA	ILDFNTMSEI	MESGYTRIPV	FEDEQSNIVD
430	440	450	460	470	480
ILYVKDLAFV	DPDDCTPLKT	ITRFYNHPVH	FVFHDTKLDA	MLEEFKKGKS	HLAIVQKVNN
490	500	510	520	530	540
EGEGDPFYEV	LGLVTLEDVI	EEIIKSEILD	ESDMYTDNRS	RKRVSEKNKR	DFSAFKDADN
550	560	570	580	590	600
ELKVKISPQL	LLAAHRFLAT	EVSQFSPSLI	SEKILLRLLK	YPDVIQELKF	DEHNKYYARH
610	620	630	640	650	660
YLYTRNKPAD	YFILILQGKV	EVEAGKENMK	FETGAFSYYG	TMALTSVPSD	RSPAHPTPLS
670	680	690	700	710	720
RSASLSYPDR	TDVSTAATLA	GSSNQFGSSV	LGQYISDFSV	RALVDLQYIK	ITRQQYQNGL
730	740	750	760	770
LASRMENSPQ	FPIDGCTTHM	ENLAEKSELP	VVDETTTLLN	ERNSLLHKAS	HENAI