AiPD: Autoinhibited Protein Database

Q8NCE2

Gene name	MTMR14 (C3orf29)
Protein name	Myotubularin-related protein 14
Names	HCV NS5A-transactivated protein 4 splice variant A-binding protein 1, NS5ATP4ABP1, hJumpy
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64419
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

492-617 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

492-617 (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 Q8NCE2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NCE2-F1	Predicted				AlphaFoldDB

550 variants for Q8NCE2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA70440640 rs754777692 RCV001329564	67	R>*	Autosomal dominant centronuclear myopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000421174 rs201904466 RCV002524720 CA2240422	243	T>A	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002512631 VAR_033370 rs121434509 CA114713 RCV000001075	336	R>Q	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF CNM1; may act as a phenotype modifier; drastically reduced enzymatic activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA2240631 rs757251437 RCV000997980 RCV001169952	382	R>W	Autosomal dominant centronuclear myopathy Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2076010767 RCV001196612	392	F>L	Autosomal dominant centronuclear myopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000001076 CA114714 rs121434510 VAR_033371 RCV001851525	462	Y>C	MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF CNM1; may act as a disease modifier; mutation found in a patient also carrying mutation Lys-368 in DNM2; reduced enzymatic activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA2240745 RCV001876272 rs756932434 RCV001196107	464	A>T	Autosomal dominant centronuclear myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000758236 rs757795544 CA2240884 RCV001855907	597	R>Q	Autosomal dominant centronuclear myopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA351803633 rs1311979037	3	G>S		No	ClinGen gnomAD
CA351803639 rs1574900666	4	A>T		No	ClinGen Ensembl
CA351803647 rs1305752128	5	R>Q		No	ClinGen TOPMed
rs1353144877 CA351803646	5	R>W		No	ClinGen TOPMed
rs755475489 CA2240125	14	G>E		No	ClinGen ExAC TOPMed gnomAD
CA351803699 rs1278271500	14	G>R		No	ClinGen gnomAD
CA70440086 rs940646975	15	S>A		No	ClinGen Ensembl
rs961001330 CA70440087	15	S>F		No	ClinGen Ensembl
rs1483536746 CA351803725	18	S>F		No	ClinGen TOPMed
CA351803730 rs1381639044	19	S>*		No	ClinGen gnomAD
rs1381639044 CA351803731	19	S>L		No	ClinGen gnomAD
CA70440088 rs992229736	20	G>C		No	ClinGen TOPMed gnomAD
CA2240127 rs569175683	21	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150661840 CA2240129	22	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745462669 CA2240130	23	P>L		No	ClinGen ExAC gnomAD
CA351803761 rs1353807802	24	P>L		No	ClinGen TOPMed gnomAD
CA351803756 rs1326643301	24	P>S		No	ClinGen gnomAD
rs771839057 CA2240131	25	Q>R		No	ClinGen ExAC gnomAD
CA2240133 rs775493811	26	E>A		No	ClinGen ExAC
CA351803779 rs1574901141	27	L>P		No	ClinGen Ensembl
rs763987152 CA2240136	28	G>A		No	ClinGen ExAC TOPMed gnomAD
rs763987152 CA2240135	28	G>E		No	ClinGen ExAC TOPMed gnomAD
rs761803321 CA351803785	29	L>F		No	ClinGen ExAC TOPMed
rs765241955 CA2240138	29	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2240137 rs761803321	29	L>V		No	ClinGen ExAC TOPMed
rs1221251666 CA351803792	30	G>E		No	ClinGen gnomAD
CA351803795 rs1559549078	31	E>K		No	ClinGen Ensembl
CA70440089 rs1037528457	31	E>V		No	ClinGen TOPMed
CA351803820 rs1199826785	35	E>K		No	ClinGen TOPMed gnomAD
rs766554011 CA2240141	36	F>L		No	ClinGen ExAC gnomAD
CA351803829 rs1574901336	36	F>V		No	ClinGen Ensembl
CA2240142 rs751964902	38	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1403119302 CA351803850	39	T>I		No	ClinGen gnomAD
rs201153677 CA2240143	40	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1377805028 CA351803855	40	Q>R		No	ClinGen gnomAD
rs1574901413 CA351803869	42	R>P		No	ClinGen Ensembl
rs748623985 CA2240145	43	A>T		No	ClinGen ExAC gnomAD
rs1466012511 CA351803875	43	A>V		No	ClinGen TOPMed gnomAD
rs920172810 CA70440090	44	K>T		No	ClinGen Ensembl
rs1172719911 CA351803885	45	D>N		No	ClinGen TOPMed gnomAD
rs1172719911 CA351803883	45	D>Y		No	ClinGen TOPMed gnomAD
CA351803892 rs1392265573	46	G>C		No	ClinGen TOPMed gnomAD
rs1385119437 CA351803903	47	S>R		No	ClinGen gnomAD
CA351803907 rs1323004698	48	G>E		No	ClinGen gnomAD
CA2240146 rs756733484	48	G>R		No	ClinGen ExAC
CA2240148 rs745368644	50	G>S		No	ClinGen ExAC gnomAD
CA351803921 rs1257137541	51	G>C		No	ClinGen TOPMed
rs1047773264 CA70440091	52	S>C		No	ClinGen TOPMed
rs1317678166 CA351803929	52	S>T		No	ClinGen gnomAD
CA351803932 rs775261453	53	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2240150 rs775261453	53	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA351803936 rs1238128552	53	K>R		No	ClinGen TOPMed
rs1458255145 CA351803962	55	E>D		No	ClinGen gnomAD
rs377332766 CA70440638	56	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2240188 rs377332766	56	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs544683917 COSM4135376 CA2240189	56	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs544683917 CA2240190	56	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA70440639 rs921275395	58	E>A		No	ClinGen TOPMed gnomAD
rs1379733715 CA351803974	58	E>Q		No	ClinGen gnomAD
CA2240192 rs777695208	60	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2240194 rs375944156 RCV000591329	63	E>*		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs774560050 CA2240195	65	F>L		No	ClinGen ExAC gnomAD
rs772387395 CA2240197	67	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1217837184 CA351804035	68	D>N		No	ClinGen gnomAD
rs1258602552 CA351804047	69	Y>C		No	ClinGen TOPMed gnomAD
CA351804052 rs1236014367	70	C>R		No	ClinGen gnomAD
rs775525979 CA2240198	70	C>Y		No	ClinGen ExAC gnomAD
rs761153860 CA2240199	72	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1488239381 CA351804073	73	V>M		No	ClinGen gnomAD
rs1191985093 CA351804091	75	P>L		No	ClinGen gnomAD
CA2240201 rs754240878	76	N>D		No	ClinGen ExAC gnomAD
rs1408199400 CA351804100	77	T>A		No	ClinGen TOPMed
rs762474515 CA2240202	77	T>M		No	ClinGen ExAC gnomAD
rs762474515 CA351804103	77	T>R		No	ClinGen ExAC gnomAD
TCGA novel	79	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751126677 CA2240205	80	D>G		No	ClinGen ExAC gnomAD
CA2240204 rs751126677	80	D>V		No	ClinGen ExAC gnomAD
rs1215077147 CA351804139	83	G>S		No	ClinGen Ensembl
rs1162011740 CA351804147	84	H>Y		No	ClinGen gnomAD
CA351804160 rs1348791233	85	Y>*		No	ClinGen gnomAD
CA351804163 RCV000997979 rs1574920079	86	P>S		No	ClinGen ClinVar Ensembl dbSNP
rs189325962 CA2240207	87	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767227530 CA2240206	87	R>W		No	ClinGen ExAC gnomAD
CA351804170 rs1399126812	88	H>N		No	ClinGen gnomAD
CA351804185 rs1278635439	90	V>L		No	ClinGen gnomAD
CA351804207 rs1488949327	93	E>G		No	ClinGen Ensembl
CA2240208 rs755920835	94	Y>C		No	ClinGen ExAC gnomAD
rs756981582 CA70440644	95	E>D		No	ClinGen gnomAD
CA351804230 rs1321180576	96	S>I		No	ClinGen gnomAD
CA2240209 rs575010982	97	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351804240 rs1294180298	98	E>Q		No	ClinGen gnomAD
CA2240213 rs757260256	102	D>E		No	ClinGen ExAC gnomAD
rs778696004 CA2240214	103	T>A		No	ClinGen ExAC gnomAD
rs1043051679 CA70440646	103	T>M		No	ClinGen gnomAD
rs1043051679 CA351804281	103	T>R		No	ClinGen gnomAD
rs540382518 CA2240247	104	F>C		No	ClinGen 1000Genomes ExAC gnomAD
CA351804304 rs1172895966	105	E>Q		No	ClinGen TOPMed
CA351804306 rs1559566118	105	E>V		No	ClinGen Ensembl
CA2240249 rs761674083	106	S>G		No	ClinGen ExAC gnomAD
rs764999122 CA2240250	108	V>I		No	ClinGen ExAC TOPMed gnomAD
rs750228202 CA351804330	109	Q>*		No	ClinGen ExAC gnomAD
CA2240251 rs750228202	109	Q>E		No	ClinGen ExAC gnomAD
rs1490745184 CA351804332	109	Q>R		No	ClinGen gnomAD
rs1214110590 CA351804338	110	V>L		No	ClinGen TOPMed gnomAD
rs1214110590 CA351804336	110	V>M		No	ClinGen TOPMed gnomAD
CA351804349 rs1262211537	111	S>R		No	ClinGen gnomAD
CA351804355 rs1366692992	112	K>N		No	ClinGen gnomAD
CA351804352 rs1478066102	112	K>Q		No	ClinGen gnomAD
CA2240252 rs565148633	112	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs780115789 CA2240253	116	L>F		No	ClinGen ExAC gnomAD
rs1162767801 CA351804384	116	L>R		No	ClinGen gnomAD
CA2240254 rs751708617	119	R>C		No	ClinGen ExAC TOPMed gnomAD
CA351804402 rs1184276542	119	R>H		No	ClinGen TOPMed
CA70441760 rs574108963	120	S>G		No	ClinGen Ensembl
CA2240255 rs532834766	120	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2240258 rs368196455	124	R>Q	Variant assessed as Somatic; 0.0002319 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2240257 rs374276198	124	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA351804440 rs1281484591	125	C>Y		No	ClinGen TOPMed
CA2240260 rs749635648	128	R>Q		No	ClinGen ExAC gnomAD
CA2240259 rs372268047	128	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs760212051 CA2240263	133	V>L		No	ClinGen ExAC gnomAD
rs1040097421 CA70441762	137	K>E		No	ClinGen TOPMed gnomAD
rs763721491 CA70441763	138	G>D		No	ClinGen TOPMed gnomAD
rs768087940 CA2240265	139	K>N		No	ClinGen ExAC gnomAD
rs1559566505 CA351804529	139	K>T		No	ClinGen Ensembl
CA351678215 rs1559576677	140	H>N		No	ClinGen Ensembl
TCGA novel	142	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774272620 CA2240292	142	C>G		No	ClinGen ExAC gnomAD
CA2240293 rs759617655	143	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2240294 rs767533712	144	S>L		No	ClinGen ExAC gnomAD
CA69954290 rs866570706	149	G>K		No	ClinGen Ensembl
CA69954296 rs915463994	152	E>D		No	ClinGen TOPMed
rs754025073 CA2240299	152	E>K		No	ClinGen ExAC gnomAD
rs757633346 CA2240300	153	L>P		No	ClinGen ExAC gnomAD
CA2240301 rs779309243	155	G>R		No	ClinGen ExAC gnomAD
rs758951053 CA2240303	156	R>C		No	ClinGen ExAC TOPMed gnomAD
CA351678462 rs946909416	156	R>H		No	ClinGen TOPMed gnomAD
rs946909416 CA69954307	156	R>L		No	ClinGen TOPMed gnomAD
CA2240304 rs780562010	160	N>Y		No	ClinGen ExAC gnomAD
rs200189498 CA2240308	161	Y>C		No	ClinGen 1000Genomes ExAC TOPMed
rs200189498 CA2240306	161	Y>F		No	ClinGen 1000Genomes ExAC TOPMed
rs200189498 CA2240307	161	Y>S		No	ClinGen 1000Genomes ExAC TOPMed
CA2240310 rs770700324	162	F>L		No	ClinGen ExAC gnomAD
rs1354606034 CA351678594	164	S>A		No	ClinGen gnomAD
rs373227805 CA2240328	166	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2240327 rs777405290	166	G>R		No	ClinGen ExAC TOPMed gnomAD
CA351680207 rs777405290	166	G>S		No	ClinGen ExAC TOPMed gnomAD
CA69954596 rs1055857127	167	A>T		No	ClinGen TOPMed
rs894251787 CA69954598	167	A>V		No	ClinGen gnomAD
rs1574983484 CA351680227	168	D>A		No	ClinGen Ensembl
CA351680222 rs1216348476	168	D>N		No	ClinGen TOPMed gnomAD
CA351680224 rs1216348476	168	D>Y		No	ClinGen TOPMed gnomAD
rs770759593 CA2240329	170	A>V		No	ClinGen ExAC gnomAD
RCV000871122 CA2240331 rs189614064	173	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1384180706 CA351680281	173	D>H		No	ClinGen TOPMed
rs1458748233 CA351680294	174	V>G		No	ClinGen TOPMed
rs771834344 CA2240332	174	V>M		No	ClinGen ExAC gnomAD
rs775303222 CA351680299	175	E>K		No	ClinGen ExAC gnomAD
rs775303222 CA2240333	175	E>Q		No	ClinGen ExAC gnomAD
rs1215572060 CA351680314	176	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA351680326 rs1487145202	177	V>I		No	ClinGen gnomAD
rs768475517 CA2240335	178	T>M		No	ClinGen ExAC TOPMed
CA351680337 rs768475517	178	T>R		No	ClinGen ExAC TOPMed
CA2240337 rs199732783	179	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	179	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765475266 CA2240338	180	E>G		No	ClinGen ExAC gnomAD
CA2240339 rs750576346	182	C>*		No	ClinGen ExAC gnomAD
CA351680382 rs1418827207	182	C>Y		No	ClinGen TOPMed gnomAD
rs763236480 CA2240340	185	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA351681158 rs1263017116	186	S>N		No	ClinGen TOPMed gnomAD
rs1471451280 CA351681192	187	G>S		No	ClinGen TOPMed gnomAD
rs1204948752 CA351681220	188	D>N		No	ClinGen gnomAD
rs930825848 CA69955273	188	D>V		No	ClinGen Ensembl
CA2240358 rs766476859	189	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	190	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1051906536 CA69955290	190	H>Y		No	ClinGen TOPMed gnomAD
rs1009123384 CA69955294	193	D>N		No	ClinGen Ensembl
rs778623733 CA2240364	197	G>D		No	ClinGen ExAC TOPMed gnomAD
rs778623733 CA351681558	197	G>V		No	ClinGen ExAC TOPMed gnomAD
CA351681584 rs1429851346	198	Y>C		No	ClinGen TOPMed gnomAD
CA351681591 rs1429851346	198	Y>S		No	ClinGen TOPMed gnomAD
CA351681623 rs373445437	199	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA351681661 rs1168529850	201	K>E		No	ClinGen gnomAD
CA69955316 rs995797857	202	L>P		No	ClinGen Ensembl
CA2240369 rs561584810	203	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA2240371 rs781120675	204	R>*		No	ClinGen ExAC TOPMed gnomAD
CA69955339 rs1022034693	204	R>L		No	ClinGen Ensembl
CA351681751 rs1434700032	205	Y>H		No	ClinGen gnomAD
rs747671579 CA351681862	209	K>I		No	ClinGen ExAC TOPMed gnomAD
rs747671579 CA2240376	209	K>R		No	ClinGen ExAC TOPMed gnomAD
CA351681904 rs370526025	210	Y>*		No	ClinGen ESP TOPMed gnomAD
rs759953370 CA2240377	210	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs529145674 CA2240378	211	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs761333668 CA2240380	214	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1224040887 CA351682060	216	V>E		No	ClinGen TOPMed
rs764667127 CA2240381	217	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2240383 rs757805832	219	K>Q		No	ClinGen ExAC gnomAD
rs374591212 CA2240384	219	K>R		No	ClinGen ESP ExAC gnomAD
rs1168587863 CA351682214	221	V>M		No	ClinGen gnomAD
TCGA novel	225	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2240411 rs199688667	226	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1237615643 CA351682809	228	T>N		No	ClinGen gnomAD
rs778927234 CA351682876	232	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1206813879 CA351682865	232	K>T		No	ClinGen gnomAD
TCGA novel CA351682915 rs767978492	234	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
COSM3427962 rs952450488 CA69956233	234	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1243925241 CA351682981	238	R>C		No	ClinGen gnomAD
CA2240415 rs745913718	238	R>H		No	ClinGen ExAC gnomAD
CA2240420 rs200924533	241	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	244	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351683164 rs773778933	248	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2240423 rs773778933	248	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2240425 rs767190111	249	Y>C		No	ClinGen ExAC gnomAD
CA69958519 rs894315362	252	C>W		No	ClinGen TOPMed
TCGA novel	255	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765089025 CA2240453	258	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000310432 rs142525507 CA2240454	260	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758396423 CA2240455	261	R>W	Variant assessed as Somatic; 9.276e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA69958534 rs200869904	264	M>V		No	ClinGen TOPMed gnomAD
CA2240458 rs751653666	269	I>M		No	ClinGen ExAC gnomAD
CA2240461 rs550464125	270	F>C		No	ClinGen 1000Genomes ExAC gnomAD
rs374251047 CA2240460	270	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2240462 rs756436873	273	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1470373607 CA351687080	275	D>N		No	ClinGen TOPMed gnomAD
CA2240481 rs527765188	275	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	276	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1575016184 CA351687136	277	V>I		No	ClinGen Ensembl
CA2240483 TCGA novel rs763510597	278	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC
CA351687209 rs1352998378	279	A>V		No	ClinGen gnomAD
CA351687266 rs746535556	282	S>C		No	ClinGen ExAC gnomAD
rs746535556 CA2240485	282	S>G		No	ClinGen ExAC gnomAD
CA351687269 rs1352786235	282	S>N		No	ClinGen TOPMed gnomAD
rs778219592 CA2240482	283	I>M		No	ClinGen ExAC
COSM1538557 CA2240486 rs372538745	284	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2240488 rs747897774	285	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2240489 CA351687382 rs769536763	286	F>L		No	ClinGen ExAC TOPMed
CA351687368 rs1220480529	286	F>L		No	ClinGen gnomAD
rs1270390832 CA351687380	286	F>S		No	ClinGen TOPMed gnomAD
CA351687398 rs1280256607	288	T>A		No	ClinGen TOPMed
rs773190886 CA2240490	289	H>Y		No	ClinGen ExAC gnomAD
COSM1669946 rs762786645 CA2240491	291	L>P	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs766450229 CA351687498	292	N>K		No	ClinGen ExAC TOPMed gnomAD
CA351687509 rs1253704833	293	I>V		No	ClinGen TOPMed gnomAD
rs1198573616 CA351687559	295	W>G		No	ClinGen gnomAD
CA2240494 rs759551245	296	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2240495 rs767695752	297	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1431075650 CA351687633	298	Y>C		No	ClinGen Ensembl
CA2240509 rs749098375	300	C>G		No	ClinGen ExAC gnomAD
rs1204151366 CA351689277	300	C>S		No	ClinGen gnomAD
rs1204151366 CA351689274	300	C>Y		No	ClinGen gnomAD
CA69961639 rs79316901	305	Q>K		No	ClinGen Ensembl
rs774005614 CA2240511	306	Q>*		No	ClinGen ExAC gnomAD
rs771874569 TCGA novel CA2240513	310	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs746827046 CA2240514	311	L>V		No	ClinGen ExAC TOPMed gnomAD
CA69961696 rs371570998	312	K>M		No	ClinGen Ensembl
CA351689694 rs753995748	319	N>D		No	ClinGen ExAC TOPMed gnomAD
CA2240517 rs753995748	319	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs906072796 CA69961723	320	S>R		No	ClinGen Ensembl
CA69961726 rs200659107	321	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2240518 COSM480636 rs762006852	321	D>N	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2240519 rs200659107	321	D>V		No	ClinGen ExAC TOPMed gnomAD
CA351690958 rs1559600626	322	D>V		No	ClinGen Ensembl
rs1281361693 CA351690993	324	S>G		No	ClinGen gnomAD
CA2240554 rs375469777 CA351691024	325	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA351691100 rs1250240552	328	V>A		No	ClinGen gnomAD
CA2240557 rs554193454	328	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2240558 rs760162121	329	H>R		No	ClinGen ExAC gnomAD
CA351691115 rs1483614090	329	H>Y		No	ClinGen gnomAD
rs753422401 CA2240560	331	I>F		No	ClinGen ExAC gnomAD
rs1428378163 CA351691306	335	D>V		No	ClinGen TOPMed
CA351691319 rs756686196	336	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2240561 rs756686196	336	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1559600886 CA351691358	337	T>A		No	ClinGen Ensembl
rs764090288 CA69962427	337	T>N		No	ClinGen Ensembl
rs758059701 CA351691414	339	L>F		No	ClinGen ExAC gnomAD
CA2240564 rs758059701	339	L>V		No	ClinGen ExAC gnomAD
CA351691453 rs1370919131	341	I>V		No	ClinGen gnomAD
rs779750395 CA2240565	342	S>A		No	ClinGen ExAC gnomAD
CA351691619 rs1212653021	345	R>C		No	ClinGen TOPMed
rs746782440 CA2240566	345	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA351691757 rs1395453468	349	W>R		No	ClinGen Ensembl
CA351692088 rs1207582254	351	D>G		No	ClinGen gnomAD
rs1248200203 CA351692129	353	L>V		No	ClinGen TOPMed gnomAD
RCV000174402 rs183134138 RCV002056920 CA200967	356	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351692524 rs1443995551	361	T>A		No	ClinGen TOPMed
rs532720335 CA2240599	361	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs775986325 CA2240600	362	E>G		No	ClinGen ExAC gnomAD
CA351692614 rs769182078	363	I>M		No	ClinGen ExAC gnomAD
rs761155606 CA2240601	363	I>V		No	ClinGen ExAC gnomAD
CA2240603 rs550970092	365	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762480966 CA2240604	372	W>R		No	ClinGen ExAC gnomAD
CA69962717 rs13315043	375	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351693070 rs1419085761	376	G>R		No	ClinGen Ensembl
CA2240606 rs751154467	376	G>V		No	ClinGen ExAC gnomAD
rs1182776745 CA351693337	378	M>I		No	ClinGen gnomAD
rs763943891 CA2240630	378	M>L		No	ClinGen ExAC TOPMed gnomAD
rs763943891 CA2240629	378	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1253929650 CA351693382	380	V>I		No	ClinGen gnomAD
rs757251437 CA351693431	382	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1559602166 CA351693441	382	R>Q		No	ClinGen Ensembl
rs115607360 RCV000238688 CA2240633 RCV001854917	384	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2240634 rs758712596	385	K>R		No	ClinGen ExAC TOPMed gnomAD
rs780280229 CA2240635	388	E>K		No	ClinGen ExAC gnomAD
CA351696440 rs1223876106	390	F>L		No	ClinGen gnomAD
TCGA novel	391	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs940857214 CA351696591	393	C>*		No	ClinGen TOPMed gnomAD
TCGA novel	396	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	397	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392390416 CA351696690	398	K>E		No	ClinGen gnomAD
CA351696701 rs1163147376	399	H>D		No	ClinGen gnomAD
CA2240663 rs771554384	399	H>L		No	ClinGen ExAC gnomAD
CA2240664 rs771554384	399	H>R		No	ClinGen ExAC gnomAD
CA2240665 rs746745344	400	I>V		No	ClinGen ExAC gnomAD
CA69964437 rs887420879	401	T>I		No	ClinGen Ensembl
CA351696841 rs1380270282	403	E>G		No	ClinGen gnomAD
CA2240668 rs545729557	403	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2240669 rs545729557	403	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2240670 rs372498357	407	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351697070 rs1209559041	412	R>K		No	ClinGen gnomAD
rs752860539 CA351697468 CA2240693	414	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1231498925 CA351697474	415	S>G		No	ClinGen TOPMed
CA351697484 rs1199079529	415	S>I		No	ClinGen gnomAD
rs764513098 CA2240695	417	P>A		No	ClinGen ExAC TOPMed gnomAD
CA69965059 rs764513098	417	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754173649 CA2240696	418	A>D		No	ClinGen ExAC gnomAD
rs369183361 CA2240699	419	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs754385036 CA2240700	422	G>D		No	ClinGen ExAC gnomAD
CA2240701 rs780833288	424	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1226548565 CA351697791	425	L>P		No	ClinGen gnomAD
rs1343372829 CA351697834	427	D>A		No	ClinGen gnomAD
rs755795199 CA2240703	427	D>H		No	ClinGen ExAC gnomAD
rs755795199 CA351697825	427	D>Y		No	ClinGen ExAC gnomAD
CA351697856 rs1207206334	428	I>N		No	ClinGen gnomAD
CA351697912 rs1297475267	430	M>I		No	ClinGen gnomAD
rs750945377 COSM447098 CA2240721	433	R>*	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs758937216 CA69965279	433	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2240722 rs758937216	433	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376068526 CA2240723 COSM1258037	436	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2240724 rs752231256	436	R>H	Variant assessed as Somatic; 9.295e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA69965290 rs377445755	437	G>D		No	ClinGen ESP TOPMed gnomAD
CA351698254 rs1158644564	438	S>R		No	ClinGen gnomAD
CA351698280 rs1462518741	438	S>T		No	ClinGen gnomAD
rs1389674675 CA351698313	439	T>I		No	ClinGen gnomAD
CA351698420 rs1301456662	441	S>I		No	ClinGen gnomAD
CA2240725 rs755852878	442	L>P		No	ClinGen ExAC TOPMed gnomAD
rs777526827 CA2240726	443	G>A		No	ClinGen ExAC TOPMed gnomAD
CA2240727 rs749113475	444	S>G		No	ClinGen ExAC gnomAD
rs780505169 CA2240729	444	S>R		No	ClinGen ExAC gnomAD
rs1464404431 CA351698520	444	S>T		No	ClinGen TOPMed
rs117935605 CA2240730	445	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	446	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771970083 CA2240731	447	S>P		No	ClinGen ExAC
CA69965310 rs370380809	448	L>V		No	ClinGen ESP TOPMed gnomAD
rs374725262 CA2240733	449	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA351698806 rs1469365399	450	M>I		No	ClinGen TOPMed
CA351698799 rs1189927831	450	M>T		No	ClinGen gnomAD
CA351698917 rs1197882989	452	S>I		No	ClinGen TOPMed
CA2240735 rs776655293	453	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs371569636 CA2240738	454	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1293791514 CA351699008	454	P>L		No	ClinGen TOPMed gnomAD
rs371569636 CA2240737	454	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA351699047 rs1402655060	455	G>A		No	ClinGen TOPMed gnomAD
CA351699068 rs1174283097	456	A>D		No	ClinGen gnomAD
CA351699072 rs1174283097	456	A>V		No	ClinGen gnomAD
TCGA novel	457	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2240741 rs375373181	459	S>N		No	ClinGen ESP ExAC gnomAD
CA2240740 rs749983305	460	F>Y		No	ClinGen ExAC
rs755617008 CA2240743	461	T>I		No	ClinGen ExAC gnomAD
CA69965351 rs755617008	461	T>N		No	ClinGen ExAC gnomAD
rs778614424 CA2240746	464	A>V		No	ClinGen ExAC gnomAD
CA2240748 rs187675974	465	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2240749 rs187675974	465	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1272303604 CA351699538	467	L>V		No	ClinGen TOPMed gnomAD
rs747100745 CA2240750	468	V>I		No	ClinGen ExAC gnomAD
rs200047168 CA69965372	472	A>V		No	ClinGen TOPMed gnomAD
rs1424754853 CA351699870	473	P>R		No	ClinGen gnomAD
CA2240752 rs781324100	473	P>S		No	ClinGen ExAC gnomAD
CA2240753 rs371363549	475	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1175927319 CA351700077	477	A>V		No	ClinGen gnomAD
rs1354174780 CA351701343	479	R>K		No	ClinGen gnomAD
CA351701396 rs1324501486	480	K>N		No	ClinGen TOPMed
rs1156704006 CA351701422	481	S>T		No	ClinGen Ensembl
CA351701446 rs1227741188	482	H>N		No	ClinGen gnomAD
CA351701469 rs1289228534	482	H>R		No	ClinGen gnomAD
CA351701525 rs1335592450	484	S>F		No	ClinGen TOPMed gnomAD
CA351701523 rs1335592450	484	S>Y		No	ClinGen TOPMed gnomAD
CA2240767 rs761269407	485	S>C		No	ClinGen ExAC gnomAD
CA351701564 rs761269407	485	S>F		No	ClinGen ExAC gnomAD
CA351701667 rs1194349929	488	S>G		No	ClinGen gnomAD
CA351701780 rs1472087803	491	W>C		No	ClinGen gnomAD
rs781175595 CA2240772	492	N>H		No	ClinGen ExAC gnomAD
CA69965923 rs952640029	492	N>S		No	ClinGen TOPMed
CA351701795 rs952640029	492	N>T		No	ClinGen TOPMed
CA2240774 rs201206576	493	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748208637 CA2240773	493	R>W		No	ClinGen ExAC TOPMed gnomAD
CA351701845 rs1387474566	494	P>S		No	ClinGen gnomAD
rs1475468687 CA351701896	496	P>S		No	ClinGen TOPMed
CA351701889 rs1475468687	496	P>T		No	ClinGen TOPMed
CA2240776 rs749683963	499	D>V		No	ClinGen ExAC
rs1011983863 CA69965946	500	R>H		No	ClinGen gnomAD
rs963895904 CA69965942	500	R>S		No	ClinGen TOPMed gnomAD
CA69965955 rs766595818	502	P>L		No	ClinGen TOPMed
CA351702067 rs1469813903	502	P>S		No	ClinGen TOPMed
rs754260923 CA69965957	504	Q>*		No	ClinGen gnomAD
rs754260923 CA351702105	504	Q>K		No	ClinGen gnomAD
rs1266396542 CA351702144	506	G>R		No	ClinGen gnomAD
rs1206004605 CA351702185	508	A>V		No	ClinGen TOPMed gnomAD
rs1575067933 CA351702198	509	E>G		No	ClinGen Ensembl
rs772612427 CA2240780	511	R>K		No	ClinGen ExAC gnomAD
rs370406436 CA69965976	512	S>A		No	ClinGen TOPMed
rs370406436 CA69965961	512	S>T		No	ClinGen TOPMed
rs761349238 CA2240782	514	S>I		No	ClinGen ExAC gnomAD
CA69966001 rs764804694	515	S>A		No	ClinGen ExAC TOPMed gnomAD
rs750024329 CA69966008	515	S>F		No	ClinGen ExAC gnomAD
rs764804694 CA351702302	515	S>P		No	ClinGen ExAC TOPMed gnomAD
CA2240783 rs764804694	515	S>T		No	ClinGen ExAC TOPMed gnomAD
rs750024329 CA2240784	515	S>Y		No	ClinGen ExAC gnomAD
rs762584954 CA2240785	518	S>L		No	ClinGen ExAC gnomAD
rs766198116 CA2240786	519	N>D		No	ClinGen ExAC gnomAD
rs950753304 CA69966023	522	D>A		No	ClinGen gnomAD
rs1372444088 CA351702473	523	N>K		No	ClinGen TOPMed
rs754892016 CA2240788	527	M>I		No	ClinGen ExAC gnomAD
CA351702509 rs767446580	528	G>D		No	ClinGen ExAC
rs767446580 CA2240789	528	G>V		No	ClinGen ExAC
CA2240791 rs756160953	530	S>G		No	ClinGen ExAC TOPMed gnomAD
rs184298207 CA2240792	531	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1329927679 COSM1719537 CA351702530	531	P>L	NS [Cosmic]	No	ClinGen cosmic curated TOPMed
rs184298207 CA351702527	531	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2240795 rs779470871	533	E>A		No	ClinGen ExAC gnomAD
rs200526048 CA2240794	533	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351702548 rs1171277331	535	P>T		No	ClinGen TOPMed
rs1200254583 CA351702555	536	K>E		No	ClinGen gnomAD
rs1455145047 CA351702561	536	K>N		No	ClinGen TOPMed
rs746188903 CA2240796	538	R>T		No	ClinGen ExAC gnomAD
CA69970765 rs1043728888	540	V>M		No	ClinGen Ensembl
TCGA novel	540	V>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351705984 rs1575092850	541	D>A		No	ClinGen Ensembl
CA2240828 rs764076356	541	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs371144090 CA2240829	542	H>R		No	ClinGen ESP ExAC gnomAD
rs761920478 CA2240830	543	P>R		No	ClinGen ExAC gnomAD
TCGA novel	544	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351706050 rs1230329845	545	P>A		No	ClinGen TOPMed gnomAD
CA351706075 rs140767421	546	G>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2240833 rs140767421	546	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2240834 rs780513155	546	G>V		No	ClinGen ExAC gnomAD
rs951567885 CA69970822	547	S>F		No	ClinGen TOPMed
CA2240837 rs755507548	549	L>P		No	ClinGen ExAC gnomAD
rs751818507 CA2240836	549	L>V		No	ClinGen ExAC gnomAD
rs1195671879 CA351706128	550	S>P		No	ClinGen TOPMed
CA2240838 rs554506283	550	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1250823440 CA351706157	552	D>Y		No	ClinGen TOPMed
rs201626220 CA2240840	553	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1309752853 CA351706187	553	Y>D		No	ClinGen TOPMed
rs540106956 CA2240841	554	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA69970886 rs896632375	555	S>N		No	ClinGen TOPMed gnomAD
rs1369173521 CA351706310	558	M>V		No	ClinGen TOPMed
TCGA novel	559	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1455904665 CA351706355	560	T>A		No	ClinGen TOPMed gnomAD
COSM1215694 CA2240844 rs771602871	560	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1553685959 CA351706386	562	C>S		No	ClinGen Ensembl
CA351706436 rs1297084771	563	G>V		No	ClinGen TOPMed
rs775378381 CA2240845	564	S>R		No	ClinGen ExAC gnomAD
rs775439363 CA69970924	565	I>F		No	ClinGen Ensembl
CA2240846 rs376164405	566	Q>H		No	ClinGen ESP ExAC gnomAD
CA2240848 rs776656035	568	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2240847 rs201921926	568	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1559622267 CA351706563	569	A>G		No	ClinGen Ensembl
CA2240850 rs761832602	570	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2240849 rs761832602	570	V>L		No	ClinGen ExAC TOPMed gnomAD
rs370895091 CA2240852	573	T>A		No	ClinGen ESP ExAC TOPMed
rs921183614 CA69970944	573	T>I		No	ClinGen TOPMed
rs533142320 CA2240853	575	S>C		No	ClinGen 1000Genomes ExAC
rs781522809 CA2240856	576	S>F		No	ClinGen ExAC gnomAD
CA2240855 rs755276747	576	S>P		No	ClinGen ExAC gnomAD
rs779547575 CA69970960	578	P>S		No	ClinGen gnomAD
CA2240857 rs753242905	580	S>N		No	ClinGen ExAC gnomAD
rs200360764 CA2240860	582	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200360764 CA2240861	582	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2240859 rs778543200	582	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2240864 rs768617254	583	D>Y		No	ClinGen ExAC TOPMed
CA351706840 rs1346116544	585	L>F		No	ClinGen gnomAD
rs776531632 CA2240865	586	P>S		No	ClinGen ExAC gnomAD
rs1375378724 CA351706860	587	N>D		No	ClinGen gnomAD
rs1416010698 CA351706912	589	C>*		No	ClinGen gnomAD
TCGA novel	590	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351706917 rs1294581423	590	L>M		No	ClinGen TOPMed gnomAD
rs187153906 CA2240867	590	L>Q		No	ClinGen 1000Genomes TOPMed
CA351708720 rs543084165	592	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1236344272 CA351708698	592	A>T		No	ClinGen gnomAD
CA2240881 rs543084165	592	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	593	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436085180 CA351708762	593	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA69976705 rs929541502	597	R>G		No	ClinGen Ensembl
rs987163589 CA69976732	599	T>S		No	ClinGen gnomAD
CA2240887 rs368605936	600	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs370811714 CA2240888	600	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs368605936 CA2240886	600	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA351709146 rs1575107243	604	V>G		No	ClinGen Ensembl
CA2240889 rs747888856	605	R>C		No	ClinGen ExAC gnomAD
rs769804646 CA2240890	605	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2240893 rs374180282	608	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA351709286 rs1295239715	610	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2240894 COSM1642352 rs201021505	611	A>V	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA69976824 rs1038774574	612	Y>C		No	ClinGen Ensembl
rs1248214509 CA351709324	612	Y>H		No	ClinGen gnomAD
rs767668284 CA2240896	613	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2240897 rs775835555	614	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	615	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318969228 CA351709385	617	G>R		No	ClinGen TOPMed
CA2240902 rs765867569	619	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2240900 rs200002439	619	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA2240903 rs751060215	621	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1380658470 CA351709444	623	P>S		No	ClinGen TOPMed
rs867174495 CA351709485	626	S>C		No	ClinGen gnomAD
rs867174495 CA69976860	626	S>F		No	ClinGen gnomAD
rs190345299 CA2240905	627	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA351709493 rs1163679564	627	G>D		No	ClinGen gnomAD
rs190345299 CA2240906	627	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2240907 rs755913682	628	A>P		No	ClinGen ExAC TOPMed gnomAD
rs749252108 CA2240910	630	G>R		No	ClinGen ExAC TOPMed gnomAD
CA351709526 rs1315956408	631	G>C		No	ClinGen gnomAD
CA69976881 rs75188300	632	L>V		No	ClinGen TOPMed
COSM1309521 rs751079388 CA2240913	634	E>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA351709560 rs1346605201	635	Q>E		No	ClinGen TOPMed
rs772311516 CA2240914	636	F>C		No	ClinGen ExAC gnomAD
CA2240915 rs375966737	638	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2240916 rs756780172	638	R>H		No	ClinGen ExAC TOPMed gnomAD
CA351709613 rs756780172	638	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1164887554 CA351709630	639	G>V		No	ClinGen TOPMed
CA351709658 rs1424348226	640	V>G		No	ClinGen TOPMed
rs768939468 CA2240917	642	L>R		No	ClinGen ExAC gnomAD
CA351709710 rs777046881	643	R>G		No	ClinGen ExAC TOPMed gnomAD
rs202121982 CA2240919	643	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777046881 CA2240918	643	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2240920 rs765776636	644	S>G		No	ClinGen ExAC gnomAD
CA351709733 rs1264243068	644	S>I		No	ClinGen TOPMed
rs751150103 CA2240921	646	S>T		No	ClinGen ExAC gnomAD
CA2240922 rs759071141	647	S>N		No	ClinGen ExAC gnomAD
rs1473906817 CA351709841	647	S>R		No	ClinGen gnomAD
rs767116693 CA2240923	649	A>T		No	ClinGen ExAC gnomAD
rs933330675 CA69976962	650	L>M		No	ClinGen TOPMed
rs1294082200	651	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with Q8NCE2

[MIM: 160150]: Myopathy, centronuclear, 1 (CNM1)

A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269|PubMed:17008356}. Note=The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2 (PubMed:17008356). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy (PubMed:17008356). {ECO:0000269|PubMed:17008356}.

Without disease ID

A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269|PubMed:17008356}. Note=The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2 (PubMed:17008356). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy (PubMed:17008356). {ECO:0000269|PubMed:17008356}.

1 regional properties for Q8NCE2

Type	Name	Position	InterPro Accession
conserved_site	Ribosomal S11, conserved site	116 - 138	IPR018102

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm	Found in reticular structures and plasma membrane ruffles Concentrated near the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.

3 GO annotations of molecular function

Name	Definition
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate + 2 H+.
phosphatidylinositol-3-phosphatase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate.
protein serine/threonine phosphatase activity	Catalysis of the reaction: protein serine phosphate + H2O = protein serine + phosphate, and protein threonine phosphate + H2O = protein threonine + phosphate.

3 GO annotations of biological process

Name	Definition
dephosphorylation	The process of removing one or more phosphoric (ester or anhydride) residues from a molecule.
macroautophagy	The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded.
phosphatidylinositol biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8VEL2	Mtmr14	Myotubularin-related protein 14	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAGARAAAAA	ASAGSSASSG	NQPPQELGLG	ELLEEFSRTQ	YRAKDGSGTG	GSKVERIEKR
70	80	90	100	110	120
CLELFGRDYC	FSVIPNTNGD	ICGHYPRHIV	FLEYESSEKE	KDTFESTVQV	SKLQDLIHRS
130	140	150	160	170	180
KMARCRGRFV	CPVILFKGKH	ICRSATLAGW	GELYGRSGYN	YFFSGGADDA	WADVEDVTEE
190	200	210	220	230	240
DCALRSGDTH	LFDKVRGYDI	KLLRYLSVKY	ICDLMVENKK	VKFGMNVTSS	EKVDKAQRYA
250	260	270	280	290	300
DFTLLSIPYP	GCEFFKEYKD	RDYMAEGLIF	NWKQDYVDAP	LSIPDFLTHS	LNIDWSQYQC
310	320	330	340	350	360
WDLVQQTQNY	LKLLLSLVNS	DDDSGLLVHC	ISGWDRTPLF	ISLLRLSLWA	DGLIHTSLKP
370	380	390	400	410	420
TEILYLTVAY	DWFLFGHMLV	DRLSKGEEIF	FFCFNFLKHI	TSEEFSALKT	QRRKSLPARD
430	440	450	460	470	480
GGFTLEDICM	LRRKDRGSTT	SLGSDFSLVM	ESSPGATGSF	TYEAVELVPA	GAPTQAAWRK
490	500	510	520	530	540
SHSSSPQSVL	WNRPQPSEDR	LPSQQGLAEA	RSSSSSSSNH	SDNFFRMGSS	PLEVPKPRSV
550	560	570	580	590	600
DHPLPGSSLS	TDYGSWQMVT	GCGSIQERAV	LHTDSSLPFS	FPDELPNSCL	LAALSDRETR
610	620	630	640
LQEVRSAFLA	AYSSTVGLRA	VAPSPSGAIG	GLLEQFARGV	GLRSISSNAL