AiPD: Autoinhibited Protein Database

Q8N1F7

Gene name	NUP93 (KIAA0095)
Protein name	Nuclear pore complex protein Nup93
Names	93 kDa nucleoporin, Nucleoporin Nup93
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9688
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

10-84 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

10-84 (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

8 structures for Q8N1F7

Entry ID	Method	Resolution	Chain	Position	Source
5IJN	EM	2140 A	C/I/O/U	1-819	PDB
5IJO	EM	2140 A	C/I/O/U	1-819	PDB
7MW0	X-ray	200 A	A	174-819	PDB
7MW1	X-ray	340 A	A/B	174-819	PDB
7PER	EM	3500 A	C/I/O/U	1-819	PDB
7R5J	EM	5000 A	A0/A1/A2/A3/A4/A5/A6	1-819	PDB
7R5K	EM	1200 A	A0/A1/A2/A3/A4/A5/A6	1-819	PDB
AF-Q8N1F7-F1	Predicted				AlphaFoldDB

633 variants for Q8N1F7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001029893 CA8068148 RCV002552434 rs140226964	207	D>E	Nephrotic syndrome, type 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001029894 CA395983584 rs1596843391	252	M>K	Nephrotic syndrome, type 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_076473 rs145146218 CA357850 RCV001328162 RCV001532324 RCV000210641	388	R>W	Nephrotic syndrome Nephrotic syndrome, type 12 NPHS12; doesnt affect nuclear envelope localization; impairs nuclear pore complex assembly; doesn't abrogate interaction with NUP205; doesn't affect SMAD4 interaction; doesn't affect IPO7 interaction; impairs SMAD4 protein import into nucleus; impairs SMAD4 protein signal transduction [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000210703 rs869320695	442	K>missing	Nephrotic syndrome, type 12 [ClinVar]	Yes	ClinVar dbSNP
RCV001004889 rs1596856296 CA395990204	488	H>R	Nephrotic syndrome, type 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA395991393 RCV000735740 rs1351580598	570	V>E	Nephrotic syndrome, type 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001731974 rs140437118 CA8068539 RCV000911820	583	I>M	Nephrotic syndrome, type 12 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_076474 rs145473779 CA357847 RCV001799635 RCV000210563 RCV001849346	591	G>V	Nephrotic syndrome Nephrotic syndrome, type 12 NPHS12; doesnt affect nuclear envelope localization; doesn't affect nuclear pore complex assembly; doesn't abrogate interaction with NUP205; abrogates SMAD4 interaction; abrogates IPO7 interaction; impairs SMAD4 protein import into nucleus; impairs SMAD4 protein signal transduction [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA395993090 RCV000787021 rs1596860697	613	A>P	Nephrotic syndrome, type 12 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_076475 RCV001849347 rs757674160 RCV000210657 CA357852	629	Y>C	Nephrotic syndrome Nephrotic syndrome, type 12 NPHS12; doesnt affect nuclear envelope localization; doesn't affect nuclear pore complex assembly; doesn't abrogate interaction with NUP205; abrogates SMAD4 interaction; abrogates IPO7 interaction; impairs SMAD4 protein import; impairs SMAD4 protein signal transduction into nucleus; [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001004891 CA395994205 rs1334928223	693	L>F	Nephrotic syndrome, type 12 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA8067966 rs767196017	2	D>V		No	ClinGen ExAC gnomAD
rs370324781 CA281482188	5	G>E		No	ClinGen ESP TOPMed
rs1462530625 CA395965968	7	G>V		No	ClinGen gnomAD
CA8067967 rs749910134	10	L>F		No	ClinGen ExAC gnomAD
CA8067968 rs760236486	11	Q>E		No	ClinGen ExAC gnomAD
COSM124893 CA281482204 rs528073782	14	E>K	lung upper_aerodigestive_tract Variant assessed as Somatic; impact. urinary_tract breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1161557773 CA395966075	15	Q>K		No	ClinGen gnomAD
CA395966097 rs1209498979	16	L>R		No	ClinGen TOPMed
rs1458232105 CA395966115	18	A>D		No	ClinGen gnomAD
CA395966112 rs1410179295	18	A>P		No	ClinGen gnomAD
rs1354470170 CA395966151	21	E>*		No	ClinGen TOPMed
rs753815347 CA8067970	22	G>D		No	ClinGen ExAC gnomAD
rs778788608 CA8067972	26	L>F		No	ClinGen ExAC gnomAD
CA395966242 rs1245226646	28	H>L		No	ClinGen TOPMed
rs368513947 CA8067974	31	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8067973 rs752924331	31	R>W		No	ClinGen ExAC TOPMed gnomAD
CA281482232 rs751135135	33	L>S		No	ClinGen Ensembl
rs1227243689 CA395966429	39	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8067978 rs781486427	41	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8067980 rs770006120	42	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA395966493 rs770006120	42	R>G		No	ClinGen ExAC gnomAD
rs781513723 CA281482265	42	R>H		No	ClinGen TOPMed gnomAD
rs754633729 CA281482270 COSM1218115	44	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8067982 rs146068835	44	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs754633729 CA8067981	44	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8067983 rs771700263	45	S>C		No	ClinGen ExAC gnomAD
rs557498689 CA8067984	46	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760107958 CA8067985	46	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765922828 CA281482292	50	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8067986 rs765922828	50	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8067987 rs34670294	50	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA395966585 rs34670294	50	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765922828 CA395966583	50	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8067989 rs573467287	51	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs573467287 CA8067988	51	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs144159027 CA8067991	55	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs751835590 CA8067993	56	A>V		No	ClinGen ExAC gnomAD
CA395966682 rs1325612070	57	D>E		No	ClinGen gnomAD
TCGA novel	58	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395969538 rs1179549315	63	L>I		No	ClinGen gnomAD
CA281486391 rs1057206361	65	G>W		No	ClinGen TOPMed gnomAD
CA281486396 rs894556665	67	R>L		No	ClinGen Ensembl
CA395969596 rs1431901735	67	R>W		No	ClinGen TOPMed gnomAD
rs756214659 CA8068015	71	I>V		No	ClinGen ExAC TOPMed gnomAD
rs374204452 CA8068016	76	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA395969727 rs1448503008	76	Q>L		No	ClinGen gnomAD
rs755282882 CA8068018	77	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8068019 rs779278520	80	S>N		No	ClinGen ExAC gnomAD
CA8068021 rs770597885	84	A>T		No	ClinGen ExAC gnomAD
rs1363287465 CA395969870	85	T>N		No	ClinGen TOPMed gnomAD
CA395969878 rs1567378326	86	T>I		No	ClinGen Ensembl
rs745384289 CA8068023	88	E>Q		No	ClinGen ExAC gnomAD
rs769436848 CA8068024	93	V>A		No	ClinGen ExAC gnomAD
rs769436848 CA8068025	93	V>G		No	ClinGen ExAC gnomAD
CA281486441 rs998712469	94	K>R		No	ClinGen TOPMed gnomAD
CA8068027 rs570069154	96	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1487797109 CA395970066	96	T>I		No	ClinGen gnomAD
rs774166568 CA8068028	99	Q>R		No	ClinGen ExAC gnomAD
CA8068043 rs758758550	101	F>S		No	ClinGen ExAC TOPMed gnomAD
rs749311005 CA281480735	104	N>S		No	ClinGen TOPMed gnomAD
rs372055823 CA8068046	107	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242264387 CA395975201	108	N>D		No	ClinGen TOPMed
rs1180854016 CA395975207	108	N>S		No	ClinGen TOPMed gnomAD
rs1333629024 CA395975259	112	S>F		No	ClinGen gnomAD
CA8068050 rs185914955	114	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8068052 COSM2835951 rs367699010	115	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs371252223 CA8068054	118	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068053 rs773431678	118	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1194456964 CA395977398	123	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8068083 rs751953161	123	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8068082 rs751953161	123	G>S		No	ClinGen ExAC TOPMed gnomAD
rs766061167 CA8068084	125	A>P		No	ClinGen ExAC gnomAD
CA395977512 CA395977515 rs546426628	127	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1283083247 CA395977587	129	H>L		No	ClinGen TOPMed
rs1283083247 CA395977577	129	H>P		No	ClinGen TOPMed
rs747730206 CA395977599	130	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747730206 CA395977603	130	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747730206 CA8068088	130	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778313837 CA8068087	130	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA395977640 rs1332558315	132	S>T		No	ClinGen TOPMed
rs1445498797 CA395977715	133	M>I		No	ClinGen TOPMed
CA8068090 rs149086354	133	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA281483275 rs937839410	135	V>F		No	ClinGen Ensembl
TCGA novel	136	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395977794 rs1296476710	137	W>R		No	ClinGen gnomAD
CA395977857 rs1596819027	140	V>G		No	ClinGen Ensembl
CA395977880 rs1596819051	141	K>R		No	ClinGen Ensembl
CA281483281 rs1054056220	143	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs893705058 CA281483285	143	R>Q		No	ClinGen Ensembl
CA395977943 rs1391499415	145	L>V		No	ClinGen TOPMed
CA395977952 rs1174264759	146	H>Y		No	ClinGen gnomAD
CA395977966 rs1397803779	147	T>A		No	ClinGen TOPMed
rs769878224 CA8068095	150	A>T		No	ClinGen ExAC gnomAD
CA395978021 TCGA novel rs1402195707	152	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA395978062 rs1389829048	155	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA395978071 rs1397199891	155	A>V		No	ClinGen TOPMed
rs1020610259 CA281483319	156	L>F		No	ClinGen Ensembl
rs1174670372 CA395978085	157	D>N		No	ClinGen TOPMed
rs369482440 CA8068098	159	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068099 rs775000713	161	E>G		No	ClinGen ExAC gnomAD
CA395978174 rs1324536128	163	E>K		No	ClinGen TOPMed gnomAD
rs768793718 CA8068116	164	P>A		No	ClinGen ExAC TOPMed gnomAD
rs142191056 CA8068117	165	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068118 rs762441488	165	S>N		No	ClinGen ExAC gnomAD
rs772741119 CA8068119	166	Y>H		No	ClinGen ExAC gnomAD
CA395981438 rs1266158268	170	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	173	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA281490061 rs369861910	173	P>S		No	ClinGen Ensembl
CA395981533 rs1346927535	174	G>D		No	ClinGen gnomAD
rs761156791 CA8068121	175	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA395981552 rs764790250	175	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8068122 rs764790250	175	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs752401834 CA8068123	176	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1185924103 CA395981680	180	N>K		No	ClinGen gnomAD
rs781563574 CA8068124	181	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8068126 rs751463195	182	E>A		No	ClinGen ExAC TOPMed gnomAD
rs763619675 CA8068125 COSM1176785	182	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs184256098 CA8068127	185	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA281490098 rs966758586	186	A>V		No	ClinGen TOPMed gnomAD
COSM1493659 rs756006928 CA8068130	187	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs189324020 CA8068129	187	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1227643625 CA395981863	188	Q>E		No	ClinGen TOPMed
rs201924382 CA8068142	192	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395982499 rs751048227	198	N>I		No	ClinGen ExAC TOPMed gnomAD
rs751048227 CA8068144	198	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8068145 rs374284384	199	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068146 rs372688438	201	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA281494263 rs569608277	202	Q>H		No	ClinGen 1000Genomes
rs1230321236 CA395982590	203	P>R		No	ClinGen gnomAD
CA395982608 rs1300159123	204	N>K		No	ClinGen gnomAD
CA395982637 rs1248104458	206	V>M		No	ClinGen TOPMed
CA395982647 rs1183926625	207	D>N		No	ClinGen TOPMed
CA8068149 rs146924670	208	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068151 rs755224828	209	C>F		No	ClinGen ExAC gnomAD
rs753616032 CA8068150	209	C>G		No	ClinGen ExAC TOPMed gnomAD
CA8068152 rs779332625	210	A>P		No	ClinGen ExAC gnomAD
CA281494271 rs1048948610	211	S>P		No	ClinGen Ensembl
CA281494274 rs79070284	212	V>I		No	ClinGen 1000Genomes
CA395982734 rs567027753	213	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567027753 CA8068156	213	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8068155 rs567027753	213	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395982801 rs1312490161	216	D>E		No	ClinGen TOPMed
rs777022774 CA8068160	216	D>N		No	ClinGen ExAC
CA8068161 rs746271983	217	D>V		No	ClinGen ExAC gnomAD
CA395982822 rs1162650511	218	K>E		No	ClinGen TOPMed gnomAD
CA395982826 rs1392173809	218	K>T		No	ClinGen gnomAD
rs1182878018 CA395983056	219	S>N		No	ClinGen gnomAD
CA8068186 rs201948167	219	S>R		No	ClinGen ExAC gnomAD
rs374124744 CA8068187	220	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1394965064 CA395983096	221	S>C		No	ClinGen TOPMed
CA8068189 rs759345823	222	D>N		No	ClinGen ExAC TOPMed gnomAD
rs765149221 CA8068190	223	M>T		No	ClinGen ExAC gnomAD
rs752928627 CA8068191	225	T>I		No	ClinGen ExAC gnomAD
rs764273449 CA395983187	226	M>L		No	ClinGen ExAC TOPMed gnomAD
rs764273449 CA8068193	226	M>V		No	ClinGen ExAC TOPMed gnomAD
CA395983269 rs1411737712	230	M>V		No	ClinGen gnomAD
rs60510831 CA8068195	232	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA281494647 rs777072541	232	D>Y		No	ClinGen Ensembl
CA8068196 rs781678161	233	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8068197 rs547795592	234	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA8068198 rs547795592	234	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs144804729 CA8068199	237	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA395983422 rs1209633397	238	A>T		No	ClinGen gnomAD
CA8068203 rs371279811	239	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35563991 RCV000893831 CA8068204	239	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1011648583 CA281494662	240	D>E		No	ClinGen TOPMed gnomAD
CA8068206 rs375417648	242	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA395983502 rs1229649566	244	N>D		No	ClinGen Ensembl
COSM1378482 CA281494668 rs765711298	245	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8068207 rs769894093	245	R>L		No	ClinGen ExAC gnomAD
CA281494666 rs765711298	245	R>S		No	ClinGen TOPMed gnomAD
CA8068209 rs762899574 CA395983538	248	V>L		No	ClinGen ExAC TOPMed gnomAD
CA395983537 rs762899574	248	V>M		No	ClinGen ExAC TOPMed gnomAD
rs761897168 CA8068212	250	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8068211 rs751738776	250	V>M		No	ClinGen ExAC gnomAD
rs767522635 CA8068213	251	R>C		No	ClinGen ExAC TOPMed gnomAD
rs370111038 CA8068214	251	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370111038 CA395983577	251	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs756587288 CA8068215	252	M>I		No	ClinGen ExAC gnomAD
CA395983580 rs1288227780	252	M>V		No	ClinGen gnomAD
CA395983609 rs1228545144	253	E>D		No	ClinGen gnomAD
rs1343800181 CA395983603	253	E>G		No	ClinGen gnomAD
rs1300851112 CA395983595	253	E>K		No	ClinGen gnomAD
TCGA novel	257	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8068216 rs780591538	258	A>S		No	ClinGen ExAC gnomAD
TCGA novel	258	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA281494684 rs953423356	260	A>V		No	ClinGen TOPMed gnomAD
CA8068217 rs142876740	262	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8068219 rs8056371	263	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140028495 RCV000926696 CA8068220	264	Q>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8068222 rs780818925	265	S>N		No	ClinGen ExAC gnomAD
CA8068237 rs760807047	266	Y>C		No	ClinGen ExAC gnomAD
CA8068239 rs754355624	268	N>S		No	ClinGen ExAC TOPMed gnomAD
rs766805453 CA8068238	268	N>Y		No	ClinGen ExAC gnomAD
CA395984854 rs779174822	270	T>N		No	ClinGen ExAC gnomAD
CA8068241 rs779174822	270	T>S		No	ClinGen ExAC gnomAD
CA8068242 rs539652333	271	L>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	271	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1399550429 CA395984886	272	V>A		No	ClinGen gnomAD
CA395984938 rs1389308204	275	F>C		No	ClinGen TOPMed
rs781049860 CA8068244	280	Q>E		No	ClinGen ExAC gnomAD
rs1468059115 CA395985068	281	A>T		No	ClinGen gnomAD
rs1325208147 CA395985120	284	G>R		No	ClinGen TOPMed
CA281495753 rs1016983523	287	P>S		No	ClinGen gnomAD
CA8068245 rs745368411	288	G>R		No	ClinGen ExAC gnomAD
rs557645742 CA8068246	290	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA395985248 rs1445441975	291	Q>P		No	ClinGen gnomAD
rs1414796459 CA395985351	296	F>C		No	ClinGen gnomAD
rs773426367 CA395985389	298	N>I		No	ClinGen ExAC TOPMed gnomAD
rs773426367 CA8068253	298	N>S		No	ClinGen ExAC TOPMed gnomAD
CA395985419 rs1382363451	299	I>M		No	ClinGen gnomAD
rs139658470 CA281495771	303	A>P		No	ClinGen ESP
rs139658470 CA281495769	303	A>T		No	ClinGen ESP
CA395985473 rs1415757056	303	A>V		No	ClinGen gnomAD
CA281495773 rs971247149	304	P>S		No	ClinGen TOPMed gnomAD
CA8068258 rs765824089	308	L>P		No	ClinGen ExAC gnomAD
CA8068257 rs540294844	308	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA395985807 rs1249027349	310	D>Y		No	ClinGen gnomAD
CA395985844 rs1481036739	312	E>K		No	ClinGen TOPMed
CA8068286 rs149714368	315	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149714368 CA8068285	315	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA281496153 rs375202262	316	H>Q		No	ClinGen ESP TOPMed
rs780427720 CA281496159	319	W>R		No	ClinGen Ensembl
rs1169955129 CA395986016	320	A>T		No	ClinGen gnomAD
COSM971705 rs1015912856 CA281496162	320	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8068289 rs758148078	321	L>R		No	ClinGen ExAC gnomAD
CA395986080 rs1348254795	323	Y>F		No	ClinGen TOPMed
rs367944972 CA281496169	323	Y>H		No	ClinGen ESP gnomAD
rs777511270 CA8068290	326	M>I		No	ClinGen ExAC gnomAD
rs1324927881 CA395986142	326	M>V		No	ClinGen gnomAD
COSM971707 CA8068291 rs746856372	327	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8068292 rs771130377	327	R>H		No	ClinGen ExAC TOPMed gnomAD
rs201285651 CA8068293	330	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs993254811 CA281496177	330	D>G		No	ClinGen TOPMed gnomAD
rs993254811 CA395986239	330	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	332	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145578512 CA8068296	334	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1035912830 CA281496188	334	A>V		No	ClinGen Ensembl
CA8068299 rs774840944	337	V>A		No	ClinGen ExAC
CA8068298 rs769330459	337	V>L		No	ClinGen ExAC gnomAD
rs1190189482 CA395986390	338	V>A		No	ClinGen gnomAD
rs762333192 CA8068300	339	N>H		No	ClinGen ExAC gnomAD
rs765875794 CA8068302	340	R>G		No	ClinGen ExAC TOPMed gnomAD
rs758920885 CA8068303	340	R>Q		No	ClinGen ExAC gnomAD
CA281496205 rs992173424	343	H>Q		No	ClinGen TOPMed
CA395986496 rs1163962948	344	Q>*		No	ClinGen gnomAD
rs747413547 CA8068305	344	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs758307888 CA8068306	346	G>E		No	ClinGen ExAC gnomAD
rs777747972 CA8068307	347	E>A		No	ClinGen ExAC gnomAD
rs1385913949 CA395986533	348	F>L		No	ClinGen gnomAD
CA395986584 rs1357919370	350	T>N		No	ClinGen gnomAD
rs1293213544 CA395986647	354	E>G		No	ClinGen gnomAD
TCGA novel	355	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8068309 rs757080227	356	M>V		No	ClinGen ExAC gnomAD
CA395986724 rs1260970116	358	S>N		No	ClinGen gnomAD
rs1462599763 CA395986766	361	R>G		No	ClinGen TOPMed
rs763952809 CA8068325	363	L>S		No	ClinGen ExAC gnomAD
CA8068326 rs776322514	367	T>M		No	ClinGen ExAC TOPMed gnomAD
rs767380960 CA8068328	370	K>R		No	ClinGen ExAC gnomAD
CA395987075 rs148421556	372	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068330 rs148421556	372	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068329 rs750228534	372	R>W		No	ClinGen ExAC TOPMed gnomAD
CA281496541 rs990904998	376	R>C		No	ClinGen Ensembl
rs749310739 CA8068332 COSM1218116	376	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	377	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1429129296 CA395987108	378	A>T		No	ClinGen gnomAD
CA395987113 rs1232964272	378	A>V		No	ClinGen TOPMed gnomAD
CA8068333 rs755118448	379	L>F		No	ClinGen ExAC gnomAD
rs755118448 CA395987114	379	L>V		No	ClinGen ExAC gnomAD
CA395987136 rs1309196589	381	N>S		No	ClinGen gnomAD
CA395987158 rs1232206728	382	N>K		No	ClinGen gnomAD
CA395987152 rs1205201672	382	N>S		No	ClinGen gnomAD
CA395987167 rs1479565556	383	T>A		No	ClinGen gnomAD
CA395987204 rs1255165295	384	D>E		No	ClinGen gnomAD
CA395987223 rs1454824255	385	P>L		No	ClinGen TOPMed gnomAD
rs1171777265 CA395987270	388	R>Q		No	ClinGen gnomAD
CA281496552 rs1043516453	389	A>T		No	ClinGen Ensembl
rs747390049 CA395987303	390	V>L		No	ClinGen ExAC TOPMed gnomAD
rs747390049 CA8068337	390	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1328293055 CA395987353	392	C>R		No	ClinGen gnomAD
rs202054532 CA8068338	393	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775129973 CA8068339	394	I>F		No	ClinGen ExAC TOPMed gnomAD
CA8068341 rs763617550	399	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1567410047 CA395987581	401	D>G		No	ClinGen Ensembl
rs761782738 CA8068343	401	D>N		No	ClinGen ExAC gnomAD
rs574840905 CA8068344	404	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs150950239 CA8068345	404	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755863852 CA8068346	407	A>V		No	ClinGen ExAC gnomAD
rs1351843162 CA395987733	408	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8068348 rs754132298	409	K>R		No	ClinGen ExAC gnomAD
rs373924265 CA8068351	411	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068350 rs779103749	411	E>K		No	ClinGen ExAC gnomAD
CA281496593 rs779103749	411	E>Q		No	ClinGen ExAC gnomAD
rs1167564416 CA395987833	413	Y>F		No	ClinGen gnomAD
rs1461242749 CA395987874	416	L>R		No	ClinGen TOPMed gnomAD
CA395988823 rs1451794603	420	Q>K		No	ClinGen TOPMed
CA395988907 rs1567410296	423	F>S		No	ClinGen Ensembl
rs778499994 COSM174803 CA8068379	425	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1258868027 CA395988952	425	D>V		No	ClinGen TOPMed gnomAD
CA8068381 rs771500693	426	D>N		No	ClinGen ExAC TOPMed gnomAD
CA395988960 rs771500693	426	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs145809568 CA8068382	427	G>S		No	ClinGen ESP ExAC gnomAD
rs752997863 CA281496756	429	S>G		No	ClinGen Ensembl
CA8068384 rs771039642	430	S>A		No	ClinGen ExAC gnomAD
CA8068385 rs543658965	430	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395989153 rs1436068435	435	L>V		No	ClinGen gnomAD
rs1179842622 CA395989169	436	T>A		No	ClinGen TOPMed
CA395989199 rs1461231450	437	L>H		No	ClinGen TOPMed
rs1374778377 CA395989192	437	L>V		No	ClinGen gnomAD
TCGA novel	438	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	444	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395989391 rs1330792551	445	L>F		No	ClinGen TOPMed gnomAD
rs765489399 CA8068387	447	D>E		No	ClinGen ExAC gnomAD
TCGA novel	447	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377320182 CA8068388	448	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068413 rs764428645	450	E>K		No	ClinGen ExAC gnomAD
rs756496678 CA8068416	454	T>M		No	ClinGen ExAC TOPMed gnomAD
rs908131101 CA281497128	455	V>L		No	ClinGen gnomAD
rs908131101 CA395989691	455	V>M		No	ClinGen gnomAD
CA395989714 rs1326889933	456	N>S		No	ClinGen gnomAD
TCGA novel	457	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395989755 rs1596856039	458	Q>H		No	ClinGen Ensembl
CA395989769 rs1596856043	459	P>R		No	ClinGen Ensembl
CA281497144 rs551878889	461	L>F		No	ClinGen 1000Genomes TOPMed gnomAD
CA395989792 rs551878889	461	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1218624805 CA395989809	462	Y>C		No	ClinGen gnomAD
CA395989830 rs1276847328	463	F>C		No	ClinGen TOPMed gnomAD
rs1337454368 CA395989842	464	Q>E		No	ClinGen gnomAD
CA395989858 rs1234255008	465	V>I		No	ClinGen gnomAD
CA8068420 rs754276167	467	F>L		No	ClinGen ExAC TOPMed gnomAD
CA395989896 rs757973283	467	F>L		No	ClinGen ExAC gnomAD
CA395989901 rs1261895816	468	L>V		No	ClinGen gnomAD
rs374772646 CA8068422	470	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8068426 rs745834053	475	A>G		No	ClinGen ExAC TOPMed gnomAD
rs781227869 CA8068425	475	A>S		No	ClinGen ExAC gnomAD
rs769810971 CA8068427	476	V>I		No	ClinGen ExAC gnomAD
rs1290840484 CA395990071	479	L>F		No	ClinGen TOPMed gnomAD
rs1290840484 CA395990073	479	L>V		No	ClinGen TOPMed gnomAD
CA8068428 rs150449170	481	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs749167844 CA8068429	481	R>H		No	ClinGen ExAC TOPMed gnomAD
CA395990119 rs1296938699	482	M>L		No	ClinGen TOPMed gnomAD
rs764516342 CA281497190	482	M>T		No	ClinGen Ensembl
CA395990121 rs1296938699	482	M>V		No	ClinGen TOPMed gnomAD
CA395990155 rs1415790883	484	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs528775471 CA8068430	484	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1320282274 CA395990161	485	L>M		No	ClinGen gnomAD
CA395990164 rs1240831647	485	L>P		No	ClinGen gnomAD
CA8068431 COSM1378483 rs138281575 RCV000891841	486	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs377453680 CA8068432 COSM971713	486	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs948147387 CA281497210	488	H>Q		No	ClinGen TOPMed gnomAD
rs761061459 CA8068435	488	H>Y		No	ClinGen ExAC gnomAD
rs1377342963 CA395990224	491	H>D		No	ClinGen Ensembl
rs1364576973 CA395990234	491	H>Q		No	ClinGen gnomAD
rs1161606833 CA395990228	491	H>R		No	ClinGen gnomAD
CA395990237 rs1323026532	492	V>I		No	ClinGen TOPMed
CA395990261 rs1156884372	493	A>V		No	ClinGen TOPMed gnomAD
CA395990269 rs1416001580	494	L>P		No	ClinGen gnomAD
CA8068441 rs756788020	498	E>D		No	ClinGen ExAC TOPMed gnomAD
rs868189415 CA281497239	500	K>Q		No	ClinGen Ensembl
rs780820701 CA8068443	508	Q>*		No	ClinGen ExAC
CA8068444 rs745421774	508	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs17853288 CA281497254 VAR_028160	509	S>R		No	ClinGen UniProt Ensembl dbSNP
CA395990552 rs1237333004	511	Q>H		No	ClinGen gnomAD
rs936514142 CA281497255	511	Q>K		No	ClinGen Ensembl
rs780108547 CA8068446	512	L>P		No	ClinGen ExAC gnomAD
CA281497265 rs371478125	513	L>F		No	ClinGen ESP TOPMed gnomAD
CA395990577 rs371478125	513	L>V		No	ClinGen ESP TOPMed gnomAD
CA8068466 rs148103884	516	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1025198458 CA281497705	516	E>K		No	ClinGen gnomAD
rs1002483354 CA281497713	517	P>S		No	ClinGen Ensembl
rs778654547 CA8068467	518	G>A		No	ClinGen ExAC gnomAD
rs1368778740 CA395990896	521	P>H		No	ClinGen TOPMed
rs1368778740 CA395990898	521	P>R		No	ClinGen TOPMed
CA8068470 rs777975365	521	P>S		No	ClinGen ExAC TOPMed gnomAD
CA395990894 rs777975365	521	P>T		No	ClinGen ExAC TOPMed gnomAD
rs776964186 CA395990947	524	R>P		No	ClinGen ExAC gnomAD
rs776964186 CA8068473	524	R>Q		No	ClinGen ExAC gnomAD
rs771065608 CA8068472 COSM971715	524	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs141371158 COSM22113 CA8068475	525	R>Q	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM1378485 rs760057496 CA8068474	525	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs775986098 CA8068476	528	F>V		No	ClinGen ExAC gnomAD
CA395991000 rs1327559660	529	V>A		No	ClinGen gnomAD
rs150762291 CA395990995	529	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs150762291 CA8068478	529	V>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1435168393 CA395991009	530	R>Q		No	ClinGen gnomAD
rs750107617 CA8068479	530	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8068480 rs760058517	531	L>H		No	ClinGen ExAC gnomAD
rs1208552333 CA395991042	534	L>P		No	ClinGen TOPMed
CA8068483 rs139671995	535	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1277453269 CA395991055	536	T>S		No	ClinGen gnomAD
rs1203947888 CA395991057	536	T>S		No	ClinGen gnomAD
rs374706761 CA8068485	537	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068484 rs371707121	537	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068487 rs777922313	542	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8068488 rs369105159	542	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA395991150 rs1388403405	545	R>G		No	ClinGen TOPMed
CA395991153 rs1195079511	545	R>T		No	ClinGen gnomAD
rs781311765 CA8068490	548	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1183112863 CA395991193	551	F>L		No	ClinGen Ensembl
rs770464790 CA8068492	552	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs745995924 CA8068491	552	Y>H		No	ClinGen ExAC gnomAD
rs770464790 CA8068493	552	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA8068494 rs749616430	554	L>V		No	ClinGen ExAC gnomAD
rs781337673 CA8068509	556	D>G		No	ClinGen ExAC gnomAD
CA395991237 rs1334457327	556	D>N		No	ClinGen gnomAD
CA8068510 rs145268951	557	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs905390467 CA281497970	560	S>R		No	ClinGen gnomAD
rs369147348 CA8068512	560	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA395991302 rs1308436485	562	G>R		No	ClinGen TOPMed
rs749847760 CA8068513	564	N>D		No	ClinGen ExAC
CA395991338 rs1282662745	565	M>V		No	ClinGen gnomAD
TCGA novel	567	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774760575 CA8068515	567	L>P		No	ClinGen ExAC
rs748524706 CA8068516	568	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770548557 CA8068517	568	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA395991374 rs770548557	568	R>L		No	ClinGen ExAC gnomAD
rs1391658765 CA395991382	569	C>S		No	ClinGen gnomAD
rs1413517037 CA395991421	572	E>D		No	ClinGen TOPMed
rs1213693456 CA395991431	573	L>P		No	ClinGen gnomAD
rs1399445253 CA395991484	578	R>*		No	ClinGen TOPMed
CA8068520 rs201617246	578	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068521 rs201617246	578	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219979273	580	F>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780856607 CA8068536	581	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8068538 rs769486149	582	M>T		No	ClinGen ExAC TOPMed gnomAD
rs745489090 CA8068537	582	M>V		No	ClinGen ExAC gnomAD
rs1377003104 CA395991603	585	G>E		No	ClinGen gnomAD
rs1328278103 CA395991618	586	K>N		No	ClinGen TOPMed
CA8068540 rs149661645	586	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA395991666 rs1596858511	590	D>V		No	ClinGen Ensembl
CA395991678 rs1249889460	591	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA281498223 CA8068544 rs376887419	594	K>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	596	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236279110 CA395992873	599	D>G		No	ClinGen TOPMed
rs1278056245 CA395992869	599	D>Y		No	ClinGen TOPMed
CA8068566 rs754164838	602	T>S		No	ClinGen ExAC gnomAD
rs888881866 CA281501802	606	K>E		No	ClinGen Ensembl
CA395993011 rs759630879	609	I>S		No	ClinGen ExAC gnomAD
CA8068567 rs759630879	609	I>T		No	ClinGen ExAC gnomAD
rs143824696 CA8068568	610	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068569 rs752845485	611	K>E		No	ClinGen ExAC gnomAD
rs1299614557 CA395993109	614	S>A		No	ClinGen gnomAD
CA281501812 rs28576041	614	S>C		No	ClinGen ExAC gnomAD
CA8068570 rs28576041	614	S>F		No	ClinGen ExAC gnomAD
rs1456482066 CA395993117	615	V>M		No	ClinGen gnomAD
CA395993232 rs1236347123	622	F>S		No	ClinGen TOPMed
CA8068571 rs764588833	625	A>S		No	ClinGen ExAC gnomAD
rs541498650 CA8068572	626	A>T		No	ClinGen ExAC gnomAD
CA395993315 rs1337030004	627	K>Q		No	ClinGen TOPMed
rs762403631 RCV000594163	628	L>missing		No	ClinVar dbSNP
CA395993373 rs1286184985	632	A>T		No	ClinGen gnomAD
rs199678770 CA395993387	633	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199678770 RCV000907305 CA8068576	633	K>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA395993392 rs1214418502	633	K>R		No	ClinGen gnomAD
CA395993445 rs1479157012	636	D>H		No	ClinGen TOPMed
RCV001003822 rs1596861969 CA395993454	637	K>E		No	ClinGen ClinVar Ensembl dbSNP
rs1303353695 CA395993463	638	V>I		No	ClinGen gnomAD
rs562562640 CA8068588	641	L>V		No	ClinGen ExAC TOPMed gnomAD
rs764570277 CA8068590	642	M>K		No	ClinGen ExAC gnomAD
rs1238998591 CA395993517	644	K>E		No	ClinGen gnomAD
CA395993516 rs1238998591	644	K>Q		No	ClinGen gnomAD
CA8068591 rs572387059	647	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA395993557 rs1269746871	648	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1427884930 CA395993561	649	V>L		No	ClinGen TOPMed gnomAD
rs750817566 CA8068594	650	V>I		No	ClinGen ExAC TOPMed gnomAD
CA395993620 rs1226058283	653	I>M		No	ClinGen TOPMed
rs1467494541 CA395993632	654	S>N		No	ClinGen gnomAD
rs1376327152 CA395993622	654	S>R		No	ClinGen gnomAD
CA8068595 rs371274035	654	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068596 rs778696836	655	A>D		No	ClinGen ExAC gnomAD
TCGA novel	655	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395993647 rs1410925762	656	P>A		No	ClinGen TOPMed
rs758034157 CA8068598	656	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1299064324 CA395993680	658	S>F		No	ClinGen gnomAD
CA8068602 rs776231499	659	N>K		No	ClinGen ExAC gnomAD
TCGA novel	659	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs561638940 CA8068603	662	R>K		No	ClinGen ExAC TOPMed gnomAD
CA395993737 rs1258955220	662	R>S		No	ClinGen gnomAD
rs1317460977 CA395993745	663	L>P		No	ClinGen gnomAD
rs1158628594 CA395993756	664	K>R		No	ClinGen TOPMed
rs1455711549 CA395993764	665	N>H		No	ClinGen TOPMed
CA395993774 rs1202679667	665	N>I		No	ClinGen gnomAD
rs1191177546 CA395993793	666	M>I		No	ClinGen gnomAD
CA8068605 rs576474597	666	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576474597 CA8068604	666	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1192222864 CA395993796	667	A>T		No	ClinGen gnomAD
CA395993809 rs1267328770	668	L>V		No	ClinGen gnomAD
TCGA novel	670	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426195129 CA395993837	670	I>T		No	ClinGen gnomAD
rs762996236 CA8068606	670	I>V		No	ClinGen ExAC TOPMed gnomAD
rs938826226 CA281502357	671	A>G		No	ClinGen Ensembl
TCGA novel	671	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8068607 rs764196494	672	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764196494 CA8068608	672	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8068609 rs762254899	672	E>V		No	ClinGen ExAC gnomAD
rs199837299 CA8068610	673	R>Q		No	ClinGen ExAC gnomAD
CA395993867 rs1166462755	673	R>W		No	ClinGen TOPMed gnomAD
CA8068642 rs779847628	674	Y>C		No	ClinGen ExAC gnomAD
rs749091202 CA281503100	680	S>R		No	ClinGen ExAC TOPMed gnomAD
rs190565265 CA395994073	681	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8068644 rs190565265	681	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190565265 CA8068645	681	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395994082 rs1181366087	682	N>D		No	ClinGen gnomAD
CA395994088 rs1381669558	682	N>S		No	ClinGen gnomAD
rs764734498 CA281503126	684	F>L		No	ClinGen Ensembl
CA395994114 rs1389175695	684	F>S		No	ClinGen TOPMed
CA281503132 rs369743924	685	V>M		No	ClinGen ESP TOPMed gnomAD
CA395994125 rs748209131	686	D>N		No	ClinGen ExAC gnomAD
CA281503152 rs1012144722	686	D>V		No	ClinGen Ensembl
rs748209131 CA8068646	686	D>Y		No	ClinGen ExAC gnomAD
CA395994151 rs1295333719	688	T>M		No	ClinGen gnomAD
rs142068906 CA281503172	689	F>I		No	ClinGen ESP TOPMed
CA8068650 rs771357525	689	F>L		No	ClinGen ExAC TOPMed gnomAD
rs777069106 CA8068651	690	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs760045573 CA8068652	691	L>V		No	ClinGen ExAC gnomAD
rs1379269755 CA395994211	694	D>N		No	ClinGen gnomAD
CA8068655 rs764134014	695	L>S		No	ClinGen ExAC TOPMed gnomAD
CA8068656 rs767011232	698	F>V		No	ClinGen ExAC TOPMed
rs1225198785 CA395994262	699	F>L		No	ClinGen TOPMed
TCGA novel	700	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1000580837 CA281503191	701	E>K		No	ClinGen gnomAD
rs1221423360 CA395994312	703	H>R		No	ClinGen gnomAD
rs756017486 CA8068658	704	S>N		No	ClinGen ExAC TOPMed gnomAD
rs766227416 CA8068659	706	H>Y		No	ClinGen ExAC
rs1442176633 CA395994387	710	A>D		No	ClinGen gnomAD
rs753621611 CA8068660	711	F>L		No	ClinGen ExAC gnomAD
CA395994402 rs1292577738	712	D>H		No	ClinGen TOPMed gnomAD
CA8068682 rs372514444	714	I>V		No	ClinGen ESP ExAC gnomAD
rs1466398684 CA395994523	715	E>*		No	ClinGen TOPMed gnomAD
CA395994531 rs1167526618	715	E>D		No	ClinGen TOPMed gnomAD
CA8068683 rs371055702	716	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068684 rs200856369	716	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757329145 CA8068685	718	K>Q		No	ClinGen ExAC gnomAD
CA395994575 rs1403510055	720	V>L		No	ClinGen gnomAD
CA395994627 rs1596864459	724	Q>E		No	ClinGen Ensembl
CA395994631 rs1371544720	724	Q>P		No	ClinGen TOPMed
rs1019115653 CA281503530	725	E>A		No	ClinGen Ensembl
TCGA novel	728	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781755184 CA8068686	729	E>*		No	ClinGen ExAC TOPMed gnomAD
CA8068687 rs746335792	729	E>A		No	ClinGen ExAC TOPMed gnomAD
rs746335792 CA8068688	729	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1209870688 CA395994741	732	A>V		No	ClinGen gnomAD
rs749615414 CA8068690	733	A>G		No	ClinGen ExAC gnomAD
CA395994743 rs1489822659	733	A>T		No	ClinGen gnomAD
CA395994761 rs1596864573	734	F>L		No	ClinGen Ensembl
CA8068693 rs771748377	735	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1596864595 CA395994796	736	N>K		No	ClinGen Ensembl
CA395994847 rs1204168101	740	E>*		No	ClinGen TOPMed
rs1255991803 CA395995015	741	I>M		No	ClinGen TOPMed
rs552893176 CA281505182	741	I>T		No	ClinGen TOPMed gnomAD
CA395995020 rs1567415344	742	R>K		No	ClinGen Ensembl
CA8068724 rs762777449	744	N>S		No	ClinGen ExAC gnomAD
rs1567415377 CA395995064	745	L>F		No	ClinGen Ensembl
rs751390416 CA395995080	746	S>*		No	ClinGen ExAC TOPMed gnomAD
CA8068726 rs751390416	746	S>L		No	ClinGen ExAC TOPMed gnomAD
CA395995083 rs1265991235	747	E>Q		No	ClinGen gnomAD
rs1239777742 CA395995096	748	V>M		No	ClinGen TOPMed
rs762067783 CA395995119	750	L>F		No	ClinGen ExAC TOPMed gnomAD
rs762067783 CA8068727	750	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1303296233 CA395995130	751	A>P		No	ClinGen gnomAD
CA8068728 rs767853364	751	A>V		No	ClinGen ExAC gnomAD
rs756316012 CA395995156	753	M>K		No	ClinGen ExAC gnomAD
rs756316012 CA8068730	753	M>T		No	ClinGen ExAC gnomAD
rs750524188 CA8068729	753	M>V		No	ClinGen ExAC gnomAD
CA395995173 rs1321604156	754	N>S		No	ClinGen TOPMed gnomAD
CA395995167 rs1240876461	754	N>Y		No	ClinGen TOPMed
rs1200746110 CA395995206	756	L>F		No	ClinGen gnomAD
rs748221967 CA281505214	756	L>S		No	ClinGen Ensembl
rs1596867307 CA395995226	758	T>S		No	ClinGen Ensembl
CA395995239 rs1233591733	759	Q>E		No	ClinGen gnomAD
CA8068731 rs780582794	759	Q>H		No	ClinGen ExAC
CA8068734 rs374313794	760	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068732 rs754262847	760	F>L		No	ClinGen ExAC gnomAD
rs1022882200 CA281505253	762	R>K		No	ClinGen TOPMed
rs545189455 CA8068735	763	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs770568073 CA8068736	764	K>E		No	ClinGen ExAC gnomAD
rs1297353473 CA395995331	769	S>F		No	ClinGen TOPMed
CA8068738 rs745360996	769	S>P		No	ClinGen ExAC gnomAD
rs572483425 CA8068739	770	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA395995352 rs1381718088	773	R>K		No	ClinGen TOPMed
rs749128803 CA8068741	774	P>A		No	ClinGen ExAC gnomAD
rs768650810 CA8068742	776	R>*		No	ClinGen ExAC gnomAD
CA395995371 rs773948257	776	R>L		No	ClinGen ExAC gnomAD
CA8068743 rs773948257	776	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	778	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs77860880 RCV000966005 CA8068745	779	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8068746 rs773614710	781	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs147381896 CA8068747 COSM1235527 RCV000895764	781	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766323239 CA8068748	782	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1216267834 CA395995438	783	S>C		No	ClinGen TOPMed
rs190188561 CA281506608	786	R>*		No	ClinGen 1000Genomes
rs374875893 CA281506615	786	R>Q		No	ClinGen gnomAD
rs1339514575 CA395996571	789	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA395996580 rs1194666730	790	R>C		No	ClinGen TOPMed gnomAD
rs771046738 CA8068791	790	R>H		No	ClinGen ExAC gnomAD
rs776961230 CA8068792	791	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	794	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223133203 CA395996667	794	T>S		No	ClinGen gnomAD
CA8068794 rs373453717	798	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374916243 CA8068795	800	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8068796 rs140923104	801	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs764588936 CA8068797	802	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8068798 rs369078681	803	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA395997401 rs1304254624	804	S>F		No	ClinGen gnomAD
rs1014812302 CA281506702	806	D>A		No	ClinGen TOPMed
rs376351599 CA281506691	806	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376351599 CA8068801	806	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA395997468 rs1326597123	807	T>I		No	ClinGen gnomAD
CA395997465 rs1295387773	807	T>S		No	ClinGen TOPMed
rs778511107 CA8068803	808	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8068804 rs752264053	809	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769339712 CA281506714	810	R>W		No	ClinGen TOPMed gnomAD
rs758408999 CA8068805	811	L>R		No	ClinGen ExAC gnomAD
CA395997562 rs1389237061	812	V>M		No	ClinGen TOPMed
CA8068806 rs777917068	813	Q>R		No	ClinGen ExAC gnomAD
rs1218436473 CA395997626	814	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1324994510 CA395997620	814	M>T		No	ClinGen TOPMed
rs1262152070 CA395997636	815	E>K		No	ClinGen gnomAD
CA8068807 rs746758555	816	V>I		No	ClinGen ExAC gnomAD
rs1371456489 CA395997671	817	L>F		No	ClinGen gnomAD
CA281506766 rs370139525	817	L>H		No	ClinGen ESP TOPMed
CA8068809 rs780882438	818	M>L		No	ClinGen ExAC gnomAD

1 associated diseases with Q8N1F7

[MIM: 616892]: Nephrotic syndrome 12 (NPHS12)

A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS12 inheritance is autosomal recessive. {ECO:0000269|PubMed:26878725}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS12 inheritance is autosomal recessive. {ECO:0000269|PubMed:26878725}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q8N1F7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8N1F7

Functions

		Description
EC Number
Subcellular Localization	Nucleus membrane ; Peripheral membrane protein Nucleus, nuclear pore complex Nucleus envelope	Localizes at the nuclear basket and at or near the nuclear entry to the gated channel of the pore
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nuclear periphery	The portion of the nuclear lumen proximal to the inner nuclear membrane.
nuclear pore	A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined.

1 GO annotations of molecular function

Name	Definition
structural constituent of nuclear pore	The action of a molecule that contributes to the structural integrity of the nuclear pore complex, a protein-lined channel in the nuclear envelope that allows the transfer of macromolecules.

7 GO annotations of biological process

Name	Definition
nuclear envelope organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear envelope.
nuclear pore complex assembly	The aggregation, arrangement and bonding together of a set of components to form a nuclear pore complex.
nucleocytoplasmic transport	The directed movement of molecules between the nucleus and the cytoplasm.
poly(A)+ mRNA export from nucleus	The directed movement of poly(A)+ mRNA out of the nucleus into the cytoplasm.
positive regulation of SMAD protein signal transduction	Any process that increases the rate, frequency or extent of SMAD protein signal transduction. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.
protein import into nucleus	The directed movement of a protein from the cytoplasm to the nucleus.
SMAD protein signal transduction	The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BJ71	Nup93	Nuclear pore complex protein Nup93	Mus musculus (Mouse)	PR
F4J284	NUP93B	Nuclear pore complex protein NUP93B	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MDTEGFGELL	QQAEQLAAET	EGISELPHVE	RNLQEIQQAG	ERLRSRTLTR	TSQETADVKA
70	80	90	100	110	120
SVLLGSRGLD	ISHISQRLES	LSAATTFEPL	EPVKDTDIQG	FLKNEKDNAL	LSAIEESRKR
130	140	150	160	170	180
TFGMAEEYHR	ESMLVEWEQV	KQRILHTLLA	SGEDALDFTQ	ESEPSYISDV	GPPGRSSLDN
190	200	210	220	230	240
IEMAYARQIY	IYNEKIVNGH	LQPNLVDLCA	SVAELDDKSI	SDMWTMVKQM	TDVLLTPATD
250	260	270	280	290	300
ALKNRSSVEV	RMEFVRQALA	YLEQSYKNYT	LVTVFGNLHQ	AQLGGVPGTY	QLVRSFLNIK
310	320	330	340	350	360
LPAPLPGLQD	GEVEGHPVWA	LIYYCMRCGD	LLAASQVVNR	AQHQLGEFKT	WFQEYMNSKD
370	380	390	400	410	420
RRLSPATENK	LRLHYRRALR	NNTDPYKRAV	YCIIGRCDVT	DNQSEVADKT	EDYLWLKLNQ
430	440	450	460	470	480
VCFDDDGTSS	PQDRLTLSQF	QKQLLEDYGE	SHFTVNQQPF	LYFQVLFLTA	QFEAAVAFLF
490	500	510	520	530	540
RMERLRCHAV	HVALVLFELK	LLLKSSGQSA	QLLSHEPGDP	PCLRRLNFVR	LLMLYTRKFE
550	560	570	580	590	600
STDPREALQY	FYFLRDEKDS	QGENMFLRCV	SELVIESREF	DMILGKLEND	GSRKPGVIDK
610	620	630	640	650	660
FTSDTKPIIN	KVASVAENKG	LFEEAAKLYD	LAKNADKVLE	LMNKLLSPVV	PQISAPQSNK
670	680	690	700	710	720
ERLKNMALSI	AERYRAQGIS	ANKFVDSTFY	LLLDLITFFD	EYHSGHIDRA	FDIIERLKLV
730	740	750	760	770	780
PLNQESVEER	VAAFRNFSDE	IRHNLSEVLL	ATMNILFTQF	KRLKGTSPSS	SSRPQRVIED
790	800	810
RDSQLRSQAR	TLITFAGMIP	YRTSGDTNAR	LVQMEVLMN