AiPD: Autoinhibited Protein Database

O75694

Gene name	NUP155 (KIAA0791)
Protein name	Nuclear pore complex protein Nup155
Names	155 kDa nucleoporin, Nucleoporin Nup155
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9631
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-51 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-51 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

11 structures for O75694

Entry ID	Method	Resolution	Chain	Position	Source
5A9Q	EM	2300 A	A/B	1-1391	PDB
5IJN	EM	2140 A	A/B/E/K/Q/W	1-1391	PDB
5IJO	EM	2140 A	A/B/E/K/Q/W	1-1391	PDB
7EYE	EM	510 A	A	1-863	PDB
7EYF	EM	530 A	A	864-1391	PDB
7EYQ	EM	540 A	A	1-1391	PDB
7PER	EM	3500 A	E/K/Q/W	1-1391	PDB
7R1Y	EM	300 A	A	2-1391	PDB
7R5J	EM	5000 A	D0/D1/D2/D3/D4/D5	1-1391	PDB
7R5K	EM	1200 A	D0/D1/D2/D3/D4/D5	1-1391	PDB
AF-O75694-F1	Predicted				AlphaFoldDB

987 variants for O75694

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs587777339 VAR_071762 CA151388 RCV000114997	391	R>H	Atrial fibrillation, familial, 15 ATFB15; fails to accumulate at various foci of the nuclear envelope and is diffusely distributed in the cytoplasm; shows significantly reduced permeability of the nuclear envelope compared to wild-type [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV001090184 CA3240121 rs148814027	402	V>M	Atrial fibrillation, familial, 15 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3240050 rs374935918 RCV001255007	450	M>V	Atrial fibrillation [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001334620 CA3239491 rs376467373 COSM1695637	1076	R>C	Variant assessed as Somatic; 0.0 impact. skin Atrial fibrillation, familial, 15 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs779302171 CA3240500	2	P>L		No	ClinGen ExAC TOPMed gnomAD
rs867064794 CA117101546 COSM1239652	2	P>S	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
rs755278532 CA359527317	4	S>C		No	ClinGen ExAC gnomAD
rs755278532 CA3240499	4	S>F		No	ClinGen ExAC gnomAD
rs1457248502 CA359527294	8	A>S		No	ClinGen TOPMed
rs756139023 CA3240496	9	A>V		No	ClinGen ExAC TOPMed gnomAD
CA117101531 rs1042205028	11	P>L		No	ClinGen TOPMed
CA117101522 rs373410066	14	T>A		No	ClinGen ESP TOPMed gnomAD
rs147865299 CA3240494	15	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359527227 rs1156981172	17	A>T		No	ClinGen gnomAD
rs751303944 CA3240492	18	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3240493 rs761630594	18	A>S		No	ClinGen ExAC gnomAD
rs762703704 CA359527200	19	L>P		No	ClinGen ExAC gnomAD
rs762703704 CA3240490	19	L>Q		No	ClinGen ExAC gnomAD
CA359527197 rs762703704	19	L>R		No	ClinGen ExAC gnomAD
rs1485485542 CA359527193	20	Q>E		No	ClinGen gnomAD
CA359527185 rs1186479466	20	Q>R		No	ClinGen gnomAD
rs774997771 CA3240489	21	E>A		No	ClinGen ExAC gnomAD
CA3240488 rs769403103	22	A>P		No	ClinGen ExAC gnomAD
CA359527161 rs769403103	22	A>S		No	ClinGen ExAC gnomAD
CA359527159 rs1334881736	22	A>V		No	ClinGen TOPMed gnomAD
CA117101465 rs559340477	26	A>G		No	ClinGen Ensembl
rs1561823214 CA359527109	26	A>T		No	ClinGen Ensembl
rs773857978 CA359527080	28	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773857978 CA3240486	28	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1395545006 CA359527071	29	L>F		No	ClinGen TOPMed
CA3240484 rs748645475	30	I>V		No	ClinGen ExAC gnomAD
rs779460704 CA3240483	32	R>C		No	ClinGen ExAC gnomAD
rs1443753999 CA359526994	32	R>L		No	ClinGen gnomAD
rs1337042343 CA359526969	33	Q>H		No	ClinGen gnomAD
CA359526933 rs768898632	35	Q>P		No	ClinGen ExAC gnomAD
CA3240482 rs768898632	35	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	36	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780084543 CA359526872	37	D>G		No	ClinGen ExAC gnomAD
CA3240480 rs780084543	37	D>V		No	ClinGen ExAC gnomAD
rs914631348 CA117101413	38	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs756226231 CA3240479	39	M>R		No	ClinGen ExAC gnomAD
CA3240478 rs750464501	41	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA359526748 rs1225589208	42	D>G		No	ClinGen TOPMed
rs201262273 CA3240477	43	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs757230760 CA3240476	44	S>F		No	ClinGen ExAC gnomAD
CA3240475 rs371123499	45	E>K		No	ClinGen ESP ExAC gnomAD
CA3240474 rs764012435	48	M>T		No	ClinGen ExAC gnomAD
CA359526625 rs1561823086	48	M>V		No	ClinGen Ensembl
CA359526589 rs1211320047	49	V>A		No	ClinGen gnomAD
rs1317146244 CA359526563	51	A>T		No	ClinGen TOPMed
CA3240473 rs144801440	52	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752407953 CA3240472	52	P>L		No	ClinGen ExAC gnomAD
CA359526554 rs1226278675	53	N>H		No	ClinGen gnomAD
rs1254690350 CA359524797	53	N>T		No	ClinGen TOPMed
rs1226278675 CA359526552	53	N>Y		No	ClinGen gnomAD
CA359524770 rs1188246259	54	N>I		No	ClinGen gnomAD
rs1194064770 CA359524738	56	T>A		No	ClinGen TOPMed
CA3240447 rs144607433	57	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1238480644 CA359524648	60	M>T		No	ClinGen gnomAD
CA359524657 rs1581218553	60	M>V		No	ClinGen Ensembl
rs763400499 CA3240443	63	M>T		No	ClinGen ExAC TOPMed gnomAD
CA3240444 rs764471664	63	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3240442 rs775763187	64	D>N		No	ClinGen ExAC
CA3240441 rs770110367	65	Y>H		No	ClinGen ExAC gnomAD
CA359524506 rs1310904605	66	P>L		No	ClinGen gnomAD
rs217852 CA359524486	67	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359524493 rs1466369155	67	L>S		No	ClinGen TOPMed
CA3240438 rs146033178	70	P>L		No	ClinGen 1000Genomes ExAC
CA3240439 rs776816367	70	P>S		No	ClinGen ExAC gnomAD
CA359524424 rs1157462186	71	G>S		No	ClinGen gnomAD
CA3240435 rs758218714	75	V>I		No	ClinGen ExAC TOPMed
rs1474686508 CA359524297	78	L>I		No	ClinGen gnomAD
CA3240433 rs748088416	79	P>S		No	ClinGen ExAC gnomAD
TCGA novel	80	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778642702 CA3240432	83	S>P		No	ClinGen ExAC gnomAD
CA359524174 rs778642702	83	S>T		No	ClinGen ExAC gnomAD
rs1341956433 CA359524169	83	S>Y		No	ClinGen TOPMed
rs1216371996 CA359524101	85	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA359524033 rs1262980742	88	P>L		No	ClinGen gnomAD
CA3240430 rs753559414	90	P>S		No	ClinGen ExAC gnomAD
rs372213000 CA117095539	91	P>A		No	ClinGen Ensembl
CA359523939 rs1275141247	91	P>L		No	ClinGen gnomAD
CA3240428 rs755721352	93	L>V		No	ClinGen ExAC gnomAD
CA3240427 rs749854431	95	E>Q		No	ClinGen ExAC gnomAD
CA3240426 rs767035354	99	H>Y		No	ClinGen ExAC gnomAD
rs779877953 CA3240409	100	M>T		No	ClinGen ExAC gnomAD
rs755883486 CA359523356	103	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3240408 rs755883486	103	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	103	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359523317 rs1391686664	104	C>*		No	ClinGen gnomAD
CA359523179 COSM331464 rs1330391017	106	M>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs750058591 CA3240407	107	G>D		No	ClinGen ExAC gnomAD
CA359523156 rs1397639871	108	V>M		No	ClinGen TOPMed gnomAD
CA359523123 rs1448170606	109	F>C		No	ClinGen gnomAD
CA3240405 rs756775026	110	P>A		No	ClinGen ExAC gnomAD
CA359523092 rs1453828757	110	P>H		No	ClinGen TOPMed gnomAD
CA359523084 rs1453828757	110	P>L		No	ClinGen TOPMed gnomAD
CA3240404 rs765665525	111	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1206823755 CA359523077	111	P>H		No	ClinGen gnomAD
rs765665525 CA3240403	111	P>S		No	ClinGen ExAC TOPMed gnomAD
CA117095240 rs748875971	112	I>V		No	ClinGen Ensembl
rs760874911 CA3240399	115	A>G		No	ClinGen ExAC TOPMed gnomAD
rs562657138 CA3240397	119	I>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	120	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA117095224 rs147213559 CA359522626	127	N>K		No	ClinGen ESP gnomAD
CA359522631 rs1581217839	127	N>S		No	ClinGen Ensembl
rs774465047 CA3240395	128	Y>C		No	ClinGen ExAC gnomAD
rs761886780 CA3240396	128	Y>H		No	ClinGen ExAC gnomAD
rs1285327248 CA359522604	129	E>K		No	ClinGen TOPMed
rs1358490286 CA359522576	130	D>G		No	ClinGen TOPMed
CA117095203 rs867516353	131	G>E		No	ClinGen Ensembl
CA359520020 rs1159821412	132	G>V		No	ClinGen TOPMed
rs751038971 CA3240384	134	L>F		No	ClinGen ExAC gnomAD
CA3240383 rs779419034	135	A>V		No	ClinGen ExAC gnomAD
rs1378059695 CA359519998	136	Y>C		No	ClinGen TOPMed
rs931659057 CA117090444	138	D>G		No	ClinGen TOPMed
rs1157140598 CA359519921	147	V>A		No	ClinGen TOPMed gnomAD
CA359519916 rs1257959845	148	G>E		No	ClinGen gnomAD
rs1476340929 CA359519919	148	G>R		No	ClinGen gnomAD
CA3240378 rs750616383	149	L>F		No	ClinGen ExAC gnomAD
CA359519861 rs1336400598	153	K>R		No	ClinGen TOPMed
rs1243725951 CA359519844	154	A>E		No	ClinGen gnomAD
CA3240360 rs376772699	155	G>D		No	ClinGen ESP ExAC gnomAD
CA3240359 rs139129279	156	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs763066633 CA3240356	159	P>L		No	ClinGen ExAC gnomAD
CA3240357 rs764323906	159	P>S		No	ClinGen ExAC gnomAD
CA359517149 rs1456596509	160	H>R		No	ClinGen TOPMed gnomAD
COSM1671598 rs765177729 CA3240354	162	R>*	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3240353 rs759271437	162	R>Q		No	ClinGen ExAC gnomAD
rs202230125 CA359516964 CA3240352	163	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA359516852 rs1195450675	166	V>A		No	ClinGen gnomAD
CA3240351 rs371884662	168	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1207680424 CA359516775	169	T>N		No	ClinGen gnomAD
rs771577745 CA3240348	170	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756696810 CA3240345	173	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	178	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA117086570 rs891995246	180	Y>C		No	ClinGen TOPMed
rs759024955 CA3240321	186	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA359515502 rs1159641813	187	S>P		No	ClinGen TOPMed gnomAD
CA359515504 rs1159641813	187	S>T		No	ClinGen TOPMed gnomAD
rs758741136 CA3240320	188	G>V		No	ClinGen ExAC TOPMed gnomAD
rs752828909 CA3240319	189	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3240318 rs779115652	190	L>R		No	ClinGen ExAC gnomAD
rs200258496 CA3240317	191	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA117085410 rs1026952521	191	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1398572991 CA359515377	192	D>G		No	ClinGen TOPMed
rs1398572991 CA359515376	192	D>V		No	ClinGen TOPMed
TCGA novel	192	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359515322 rs1486273604	194	L>F		No	ClinGen gnomAD
CA117085399 rs201784029	195	S>F		No	ClinGen gnomAD
rs753819565 CA3240316	195	S>P		No	ClinGen ExAC gnomAD
CA3240315 COSM1236097 rs766265694	198	M>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760486256 CA3240314	202	P>S		No	ClinGen ExAC gnomAD
CA117085389 rs916567031	203	D>N		No	ClinGen TOPMed gnomAD
CA359515102 rs1360916279	203	D>V		No	ClinGen TOPMed
CA3240312 rs568338388	204	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1294874684 CA359515083	204	P>H		No	ClinGen gnomAD
CA3240313 rs568338388	204	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs773866390 CA3240310	206	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	206	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA117085373 rs370781964	209	P>L		No	ClinGen ESP gnomAD
CA3240309 rs768221775	210	T>A		No	ClinGen ExAC gnomAD
rs762298347 CA3240308	210	T>I		No	ClinGen ExAC
rs777224701 CA3240307	211	D>E		No	ClinGen ExAC gnomAD
CA3240306 rs771513739	214	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs550192983 CA3240305	215	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA359514807 rs1473309089	217	T>A		No	ClinGen TOPMed gnomAD
CA117085333 rs969298025	218	I>V		No	ClinGen TOPMed
rs778320860 CA3240304	220	S>C		No	ClinGen ExAC gnomAD
CA359514507 rs1185981511	223	N>K		No	ClinGen gnomAD
rs772560794 CA3240303	225	R>G		No	ClinGen ExAC gnomAD
rs1195159113 CA359514165	232	D>V		No	ClinGen TOPMed gnomAD
rs531637570 CA117085310	234	C>S		No	ClinGen 1000Genomes
TCGA novel	237	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3240300 rs755116922	239	A>D		No	ClinGen ExAC gnomAD
rs778937058 CA3240301	239	A>T		No	ClinGen ExAC gnomAD
rs758024815 CA3240270	242	A>T		No	ClinGen ExAC gnomAD
CA3240269 rs752391014	242	A>V		No	ClinGen ExAC gnomAD
CA3240268 rs764898018	243	E>D		No	ClinGen ExAC gnomAD
rs564408791 CA3240267	244	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs773888407 CA3240266	244	A>V		No	ClinGen ExAC gnomAD
CA3240265 rs767862529	251	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1184252699 CA359512520	252	R>G		No	ClinGen gnomAD
CA3240264 rs762360647	252	R>S		No	ClinGen ExAC gnomAD
CA359512471 rs1581198150	254	I>R		No	ClinGen Ensembl
CA117084599 rs772926634	254	I>V		No	ClinGen TOPMed
CA359512459 rs1213920039	255	N>S		No	ClinGen TOPMed
rs1202905650 CA359512441	256	H>R		No	ClinGen gnomAD
rs769063728 CA3240262	258	K>E		No	ClinGen ExAC TOPMed gnomAD
CA359512371 rs749533324	260	S>*		No	ClinGen ExAC TOPMed gnomAD
CA3240261 rs749533324	260	S>L		No	ClinGen ExAC TOPMed gnomAD
CA3240260 rs775636983	264	L>R		No	ClinGen ExAC gnomAD
rs745904356 CA3240258	269	L>I		No	ClinGen ExAC TOPMed gnomAD
rs781125108 COSM1218071 CA3240257	272	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3240255 rs368833027	273	F>L		No	ClinGen ESP ExAC gnomAD
CA3240253 rs546063769	276	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1177442344 CA359512093	276	D>G		No	ClinGen TOPMed gnomAD
CA359512092 rs1177442344	276	D>V		No	ClinGen TOPMed gnomAD
CA359511758 rs1263853928	277	D>E		No	ClinGen TOPMed gnomAD
rs775716956 CA3240237	278	P>L		No	ClinGen ExAC gnomAD
CA359511749 rs1417844083	278	P>S		No	ClinGen TOPMed
CA359511715 rs1172541268	279	I>F		No	ClinGen TOPMed
CA3240236 rs769952140	279	I>T		No	ClinGen ExAC gnomAD
CA359511719 rs1172541268	279	I>V		No	ClinGen TOPMed
rs1243341567 CA359511626	282	I>V		No	ClinGen gnomAD
rs967177133 CA117083946	284	I>M		No	ClinGen TOPMed
CA3240235 rs759729755	285	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA359511542 rs1187185126	286	N>H		No	ClinGen TOPMed gnomAD
CA359511521 rs1265776804	286	N>K		No	ClinGen gnomAD
rs1464059376 CA359511528	286	N>S		No	ClinGen gnomAD
rs1021080477 CA117083936	287	S>C		No	ClinGen TOPMed gnomAD
rs1010906120 CA117083931	289	N>T		No	ClinGen TOPMed gnomAD
rs201036380 CA3240233	294	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3240232 rs201036380	294	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1228217602 CA359511279	297	K>N		No	ClinGen TOPMed gnomAD
rs1002978665 CA117083909	299	V>E		No	ClinGen Ensembl
TCGA novel	301	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758753525 CA3240231	301	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1229820590 CA359510188	302	V>L		No	ClinGen gnomAD
rs759817878 CA3240216	303	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs776897685 CA3240215	304	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3240214 rs770928272	306	G>E		No	ClinGen ExAC gnomAD
CA359510101 rs1561804933	306	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1381029247 CA359510055	307	Q>R		No	ClinGen TOPMed
rs760740971 CA3240213	311	G>R		No	ClinGen ExAC gnomAD
CA359509923 rs1294897073	313	S>G		No	ClinGen TOPMed
rs940695791 CA359509834	316	A>D		No	ClinGen gnomAD
CA117083409 rs940695791	316	A>G		No	ClinGen gnomAD
rs772186246 CA3240211	319	S>A		No	ClinGen ExAC gnomAD
CA359509700 rs1429082267	320	Q>E		No	ClinGen TOPMed gnomAD
CA3240210 rs748067505	323	I>V		No	ClinGen ExAC gnomAD
TCGA novel	325	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175043808 CA359509430	326	A>T		No	ClinGen gnomAD
CA359509404 rs1232184446	327	A>T		No	ClinGen TOPMed
CA3240207 rs748909089	330	I>F		No	ClinGen ExAC gnomAD
CA3240208 rs748909089	330	I>L		No	ClinGen ExAC gnomAD
CA359507047 rs1202736764	333	T>I		No	ClinGen gnomAD
rs775032568 CA3240186	334	I>F		No	ClinGen ExAC gnomAD
rs775032568 CA3240185	334	I>V		No	ClinGen ExAC gnomAD
rs745476310 CA3240183	335	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA117078131 rs371603849	336	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs371603849 CA3240182	336	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3240181 rs376696300	336	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs142350078 CA3240180	337	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187464467 CA359506173	341	P>R		No	ClinGen TOPMed
rs755366706 CA3240178	342	I>V		No	ClinGen ExAC gnomAD
rs766622151 CA3240176	345	I>T		No	ClinGen ExAC gnomAD
rs1458478515 CA359505918	346	A>T		No	ClinGen gnomAD
rs563009689 CA3240174	348	I>M		No	ClinGen ExAC gnomAD
CA3240175 rs748926185	348	I>T		No	ClinGen ExAC TOPMed gnomAD
rs767720056 CA3240173	349	E>D		No	ClinGen ExAC TOPMed
rs761920403 CA3240172	351	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	351	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764078400 CA3240170	353	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1424940586 CA359505335	355	D>V		No	ClinGen gnomAD
rs1375059173 CA359505272	356	C>F		No	ClinGen TOPMed
TCGA novel	360	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359505103 rs1268925651	360	A>V		No	ClinGen TOPMed gnomAD
rs1581187126 CA359505091	361	V>G		No	ClinGen Ensembl
CA3240167 rs769468878	361	V>I		No	ClinGen ExAC gnomAD
CA3240145 rs760298247	365	G>A		No	ClinGen ExAC gnomAD
rs143375056 CA117076907	371	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs143375056 CA3240144	371	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3240139 rs770223516	374	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1333997859 CA359504261	376	R>G		No	ClinGen TOPMed
CA359504239 rs1162203284	376	R>S		No	ClinGen gnomAD
TCGA novel	380	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561798402 CA359504134	380	A>T		No	ClinGen Ensembl
rs781670166 CA3240137	381	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3240138 rs746182824	381	R>W		No	ClinGen ExAC gnomAD
CA3240135 rs751831173	383	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3240136 rs751831173	383	N>H		No	ClinGen ExAC TOPMed gnomAD
rs758355519 CA3240134	383	N>K		No	ClinGen ExAC gnomAD
CA3240132 rs369316272	385	L>P		No	ClinGen ExAC gnomAD
CA359503978 rs368991435	386	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368991435 CA3240131	386	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs753682232 CA3240129	387	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3240128 rs766158514	391	R>C		No	ClinGen ExAC gnomAD
CA3240127 rs760377687	393	P>L		No	ClinGen ExAC gnomAD
CA3240126 rs772792961	394	P>A		No	ClinGen ExAC gnomAD
rs767056241 CA3240125	395	G>E		No	ClinGen ExAC gnomAD
rs1301759135 CA359503829	396	F>L		No	ClinGen gnomAD
rs1217264438 CA359503839	396	F>L		No	ClinGen TOPMed
rs761186240 CA3240124	400	S>A		No	ClinGen ExAC gnomAD
CA3240123 rs776083557	401	T>I		No	ClinGen ExAC gnomAD
CA3240120 rs777206234	402	V>A		No	ClinGen ExAC gnomAD
rs148814027 CA359503666	402	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771411930 CA359503626	403	E>D		No	ClinGen ExAC gnomAD
CA359503558 rs1464028602	406	S>A		No	ClinGen TOPMed
rs577740842 CA3240116	409	H>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1443589518 CA359503440	410	R>G		No	ClinGen TOPMed gnomAD
rs779029591 CA3240114	414	S>G		No	ClinGen ExAC gnomAD
CA3240112 rs377079846	414	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs377079846 CA3240113	414	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322748542 CA359528635	419	L>F		No	ClinGen gnomAD
rs754992704 CA3240095	422	A>T		No	ClinGen ExAC gnomAD
TCGA novel	428	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300908274 CA359528572	428	N>S		No	ClinGen TOPMed
rs141688173 CA3240093	429	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3240092 rs141688173	429	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs750230861 CA3240091	432	W>C		No	ClinGen ExAC TOPMed gnomAD
rs767309322 CA3240090	433	C>S		No	ClinGen ExAC gnomAD
CA3240089 rs147902256	435	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359528484 rs1188768160	436	H>R		No	ClinGen gnomAD
CA359528493 rs1249404338	436	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3240088 rs751216308	437	D>V		No	ClinGen ExAC gnomAD
rs762488801 CA3240086	439	F>S		No	ClinGen ExAC TOPMed gnomAD
COSM1695640 CA359528450 rs1323880419	440	P>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3240084 rs200787798	442	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761954621 CA3240080	445	M>I		No	ClinGen ExAC gnomAD
rs375925999 CA3240081	445	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1561795543 CA359528403	446	M>L		No	ClinGen Ensembl
CA3240079 rs142334950	448	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs868552141 CA117112445	449	Q>*		No	ClinGen Ensembl
CA359528310 rs1203878036	450	M>T		No	ClinGen TOPMed
rs1256849968 CA359528300	451	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3240048 rs778625364	453	G>C		No	ClinGen ExAC gnomAD
CA359528293 rs778625364	453	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA359528284 rs1282897605	454	V>A		No	ClinGen gnomAD
CA3240047 rs754443867	455	D>N		No	ClinGen ExAC TOPMed gnomAD
rs768017241 CA3240045	460	A>V		No	ClinGen ExAC TOPMed gnomAD
COSM1067833 rs751958347 CA3240043	463	A>V	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1466119709 CA359528206	465	D>N		No	ClinGen gnomAD
CA117109155 rs762284029	469	V>A		No	ClinGen Ensembl
CA3240040 rs775628862	470	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1468524069 CA359528136	471	K>E		No	ClinGen gnomAD
rs759624293 CA3240039	477	N>K		No	ClinGen ExAC gnomAD
rs1377876274 CA359528063	478	K>E		No	ClinGen TOPMed
CA359528052 rs776459301	479	D>N		No	ClinGen ExAC gnomAD
CA3240037 rs776459301	479	D>Y		No	ClinGen ExAC gnomAD
CA359528033 rs1248493827	480	H>L		No	ClinGen gnomAD
CA359528035 rs1248493827	480	H>R		No	ClinGen gnomAD
CA3240036 rs770951524	481	I>V		No	ClinGen ExAC gnomAD
rs1335161992 CA359528008	483	I>V		No	ClinGen TOPMed
COSM1218074 rs1018308418 CA117109132	485	D>G	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA359527942 rs1262704163	489	V>I		No	ClinGen gnomAD
CA359527936 rs986689226	490	V>I		No	ClinGen TOPMed gnomAD
CA117109130 rs986689226	490	V>L		No	ClinGen TOPMed gnomAD
rs771980223 CA359527891	494	M>L		No	ClinGen ExAC gnomAD
CA3240032 rs747807034	494	M>T		No	ClinGen ExAC gnomAD
rs771980223 CA3240033	494	M>V		No	ClinGen ExAC gnomAD
CA359527863 rs1396071064	496	P>S		No	ClinGen gnomAD
rs148457088 CA3240029	497	P>L		No	ClinGen ESP ExAC gnomAD
CA359527830 rs1391285322	499	K>E		No	ClinGen TOPMed gnomAD
rs757847279 CA3240026	500	F>L		No	ClinGen ExAC gnomAD
rs752044752 CA3240025	502	L>F		No	ClinGen ExAC gnomAD
rs758699546 CA3240023	503	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1181941523 CA359527773	504	S>L		No	ClinGen gnomAD
rs765452969 CA3240021	504	S>T		No	ClinGen ExAC gnomAD
rs769328844 CA3239990	507	G>R		No	ClinGen ExAC gnomAD
rs769328844 CA3239991	507	G>W		No	ClinGen ExAC gnomAD
CA359527584 rs1397368827	509	L>F		No	ClinGen gnomAD
rs780660872 CA3239988	510	M>I		No	ClinGen ExAC gnomAD
rs745336692 CA3239989	510	M>T		No	ClinGen ExAC gnomAD
TCGA novel	515	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239987 rs375239602	516	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3239984 rs139891649	521	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs780090360 CA3239982	522	H>Q		No	ClinGen ExAC gnomAD
CA359527464 rs769074596	527	N>D		No	ClinGen ExAC TOPMed gnomAD
rs769074596 CA3239980	527	N>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	528	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275084501 CA359527455	528	V>L		No	ClinGen gnomAD
rs767699452 CA3239979	530	G>R		No	ClinGen ExAC gnomAD
rs761897750 CA3239978	531	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3239977 rs751392818	532	G>R		No	ClinGen ExAC gnomAD
rs763951022 CA3239976	535	I>V		No	ClinGen ExAC gnomAD
CA359527398 rs1336427065	537	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	538	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239973 rs367570971	542	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs137866662 CA3239974	542	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA359527353 rs1177456861	543	Q>E		No	ClinGen TOPMed gnomAD
CA3239960 rs751543459	546	Q>E		No	ClinGen ExAC gnomAD
CA3239958 rs758336000	547	A>G		No	ClinGen ExAC gnomAD
CA359526976 rs752479219	548	C>F		No	ClinGen ExAC gnomAD
CA3239957 rs752479219	548	C>S		No	ClinGen ExAC gnomAD
rs759245337 CA3239955	550	T>A		No	ClinGen ExAC TOPMed gnomAD
rs373000659 CA3239953	553	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA359526892 rs1246678352	554	L>I		No	ClinGen gnomAD
rs1442702256 CA359526844	557	S>A		No	ClinGen TOPMed
CA3239951 rs772755566	557	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3239949 rs749797471	558	T>A		No	ClinGen ExAC TOPMed gnomAD
CA359526819 rs1344441863	559	A>T		No	ClinGen gnomAD
rs776053928 CA3239948	563	R>G		No	ClinGen ExAC gnomAD
rs1407080363 CA359526754	563	R>T		No	ClinGen gnomAD
rs1385298033 CA359526704	566	S>F		No	ClinGen gnomAD
CA3239946 rs746087822	567	A>D		No	ClinGen ExAC gnomAD
rs770222119 CA3239947	567	A>P		No	ClinGen ExAC gnomAD
CA359526690 rs1475073604	568	W>R		No	ClinGen TOPMed
rs935409994 CA117106444	571	R>Q		No	ClinGen TOPMed gnomAD
CA3239945 rs575119923	571	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA359526633 rs1486383533	572	A>T		No	ClinGen TOPMed gnomAD
rs757376828 CA3239944	573	F>L		No	ClinGen ExAC gnomAD
CA359526582 rs1214267123	575	R>K		No	ClinGen gnomAD
rs748082598 CA3239920	576	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs917033699 CA117105885	577	G>D		No	ClinGen TOPMed
rs1225081084 CA359526504	578	G>S		No	ClinGen gnomAD
rs1561789050 CA359526464	581	Q>R		No	ClinGen Ensembl
CA117105877 rs924240898	586	T>N		No	ClinGen Ensembl
rs778783619 CA3239919	588	L>P		No	ClinGen ExAC TOPMed gnomAD
rs778783619 CA359526384	588	L>R		No	ClinGen ExAC TOPMed gnomAD
CA3239916 rs375786815	589	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3239917 rs375786815	589	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3239918 rs375786815	589	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1298306029 CA359526371	590	P>L		No	ClinGen gnomAD
CA359526372 rs1298306029	590	P>R		No	ClinGen gnomAD
rs750033954 CA3239914	590	P>T		No	ClinGen ExAC gnomAD
CA3239913 rs766937826	591	P>S		No	ClinGen ExAC gnomAD
rs1446413707 CA359526354	592	S>N		No	ClinGen TOPMed
rs1352337889 CA359526326	594	V>D		No	ClinGen gnomAD
CA117105862 rs774266320	596	P>T		No	ClinGen TOPMed
CA3239911 rs35326419	599	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3239912 rs761362586	599	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3239910 rs765890643	601	P>L		No	ClinGen ExAC
CA3239908 rs536310916	602	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3239907 rs771317367	603	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA359526223 rs1561788903	604	S>A		No	ClinGen Ensembl
rs760824013 CA3239906	605	S>G		No	ClinGen ExAC gnomAD
rs975361151 CA117105258	605	S>R		No	ClinGen TOPMed gnomAD
CA3239894 rs371676330	607	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs751158209 CA359526137	608	V>F		No	ClinGen ExAC
rs751158209 CA3239892	608	V>L		No	ClinGen ExAC
CA3239890 rs763695579	610	S>G		No	ClinGen ExAC gnomAD
TCGA novel	611	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1316612503 CA359526103	613	P>A		No	ClinGen gnomAD
rs1246095525 CA359526101	613	P>R		No	ClinGen gnomAD
CA3239888 rs61756069	614	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359526092 rs1311508204	615	P>S		No	ClinGen gnomAD
CA3239886 rs761060892	618	S>A		No	ClinGen ExAC gnomAD
CA3239884 rs192500048	620	L>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359526036 rs1453755620	622	T>A		No	ClinGen gnomAD
CA3239883 rs367733501	623	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3239879 rs775453999	624	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3239880 rs749228063	624	S>P		No	ClinGen ExAC gnomAD
CA359526003 rs1185716742	625	H>R		No	ClinGen gnomAD
CA359526007 rs1322128034	625	H>Y		No	ClinGen gnomAD
CA117104665 rs577723519	626	G>D		No	ClinGen 1000Genomes TOPMed gnomAD
CA3239862 rs774488236	627	I>T		No	ClinGen ExAC gnomAD
rs1159055225 CA359525648	627	I>V		No	ClinGen TOPMed
rs1038150934 CA117104655	628	Q>R		No	ClinGen Ensembl
CA117104643 rs942150502	629	P>S		No	ClinGen gnomAD
CA359525629 rs1432177238	630	P>R		No	ClinGen TOPMed
CA3239860 rs763035604	630	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3239859 rs775407311	631	A>V		No	ClinGen ExAC gnomAD
rs1581166110 CA359525618	632	M>T		No	ClinGen Ensembl
rs769808577 CA3239858	634	T>P		No	ClinGen ExAC gnomAD
rs1406135000 CA359525596	635	P>L		No	ClinGen gnomAD
TCGA novel	635	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371354249 CA359525581	638	A>T		No	ClinGen TOPMed
rs776549626 CA3239856	638	A>V		No	ClinGen ExAC gnomAD
rs757402770 CA359525573	639	L>P		No	ClinGen gnomAD
rs757402770 CA117104579	639	L>R		No	ClinGen gnomAD
rs1581166075 CA359525563	641	N>T		No	ClinGen Ensembl
rs746668943 CA3239854	642	P>S		No	ClinGen ExAC gnomAD
CA359525534 rs1177066066	645	Q>H		No	ClinGen gnomAD
CA359525528 rs1480104453	646	A>V		No	ClinGen TOPMed gnomAD
rs1244919132 CA359525520	648	N>D		No	ClinGen TOPMed gnomAD
rs1288395087 CA359525516	648	N>T		No	ClinGen TOPMed gnomAD
CA3239850 rs111794563	649	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1249318727 CA359525500	650	S>N		No	ClinGen gnomAD
CA3239848 rs750836363	651	C>F		No	ClinGen ExAC TOPMed gnomAD
CA3239849 rs750836363	651	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1561787534 CA359525481	653	T>S		No	ClinGen Ensembl
CA359525476 rs1189662421	654	G>E		No	ClinGen TOPMed
CA3239847 rs767871265	655	P>A		No	ClinGen ExAC gnomAD
rs967604271 CA117104504	655	P>R		No	ClinGen TOPMed gnomAD
rs751798901 CA3239845	657	I>T		No	ClinGen ExAC gnomAD
CA117104490 rs139177869	658	V>M		No	ClinGen ESP TOPMed
CA3239843 rs763050980	659	Y>H		No	ClinGen ExAC gnomAD
CA359525440 rs1336484617	660	S>F		No	ClinGen gnomAD
CA359525422 rs1297928727	663	H>Y		No	ClinGen TOPMed gnomAD
rs142354357 CA3239842	664	N>S		No	ClinGen ESP ExAC gnomAD
CA117104472 rs770882585	667	C>S		No	ClinGen Ensembl
rs1455564346 CA359525376	669	Y>C		No	ClinGen TOPMed
rs373376199 CA3239840	672	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3239839 rs373376199	672	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA359525352 rs1176811079	673	I>T		No	ClinGen gnomAD
rs890750847 CA117104463	674	M>V		No	ClinGen TOPMed gnomAD
rs1218549737 CA359525134	676	N>S		No	ClinGen gnomAD
rs1448027222 CA359525123	677	I>V		No	ClinGen gnomAD
CA359525092 rs1214487222	681	S>C		No	ClinGen gnomAD
CA117103344 rs529523920	684	V>M		No	ClinGen TOPMed gnomAD
CA359525062 rs1581163982	685	E>G		No	ClinGen Ensembl
CA3239819 rs369621072	687	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA359525024 rs1350579356	690	S>I		No	ClinGen TOPMed
rs1227999869 CA359524982	696	T>S		No	ClinGen gnomAD
rs1033188399 CA117103318	697	A>T		No	ClinGen TOPMed
TCGA novel	699	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1345583257 CA359524202	700	S>G		No	ClinGen gnomAD
CA359524188 rs1292382409	700	S>N		No	ClinGen TOPMed gnomAD
CA359524158 rs1355876253	701	S>T		No	ClinGen gnomAD
CA3239802 rs199842301	704	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1581161372 CA359524004	708	E>K		No	ClinGen Ensembl
CA3239800 rs766563974	709	S>L		No	ClinGen ExAC gnomAD
CA3239799 rs756180840	710	V>M		No	ClinGen ExAC gnomAD
rs750317722 CA3239798	712	Q>R		No	ClinGen ExAC gnomAD
CA3239796 rs200783324	716	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3239794 rs763690171	716	G>D		No	ClinGen ExAC gnomAD
CA3239795 rs200783324	716	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3239793 rs762586796	717	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1319502911 CA359523747	718	Q>L		No	ClinGen TOPMed
rs775035983 CA3239792	719	E>Q		No	ClinGen ExAC gnomAD
rs1225133734 CA359523612	723	R>K		No	ClinGen gnomAD
rs747522454 CA3239790	725	S>A		No	ClinGen ExAC gnomAD
rs773555914 CA3239789	725	S>F		No	ClinGen ExAC gnomAD
CA359523543 rs1374940046	726	Q>R		No	ClinGen TOPMed gnomAD
CA3239788 rs368777239	727	F>C		No	ClinGen ESP ExAC gnomAD
rs1298360505 CA359523533	727	F>I		No	ClinGen gnomAD
rs1277637515 CA359523503	728	A>T		No	ClinGen TOPMed
CA359523259 rs1176038312	735	P>L		No	ClinGen gnomAD
rs779306603 CA3239785	735	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749509494 CA3239783	736	N>D		No	ClinGen ExAC gnomAD
TCGA novel	740	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774638232 CA3239766	743	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA359521261 rs1297997109	746	I>M		No	ClinGen TOPMed
CA359521257 rs1327991184	747	G>R		No	ClinGen TOPMed
rs749550392 CA3239764	749	M>K		No	ClinGen ExAC gnomAD
CA3239763 rs780373258	750	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3239762 rs202058711	750	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	752	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	753	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145147317 CA3239760	754	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1312385374 CA359521111	756	P>A		No	ClinGen gnomAD
rs1312385374 CA359521109	756	P>S		No	ClinGen gnomAD
rs369753767 CA117096536	758	Q>R		No	ClinGen ESP TOPMed
CA117096530 rs1004740537	760	Q>E		No	ClinGen TOPMed
CA359521037 rs1419142826	761	Q>H		No	ClinGen TOPMed gnomAD
rs1358742807 COSM1642742 CA359521028	762	E>V	stomach [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1165696306 CA359521022	763	L>P		No	ClinGen gnomAD
CA117096522 rs887113440	766	K>M		No	ClinGen TOPMed
CA3239739 rs758309880	771	Q>L		No	ClinGen ExAC gnomAD
CA359520800 rs758309880	771	Q>R		No	ClinGen ExAC gnomAD
CA359520785 rs1476767917	772	L>Q		No	ClinGen gnomAD
CA359520789 rs1169857158	772	L>V		No	ClinGen TOPMed gnomAD
CA3239737 rs778679247	773	S>N		No	ClinGen ExAC TOPMed gnomAD
rs778679247 CA359520772	773	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3239736 rs754648844	774	E>K		No	ClinGen ExAC gnomAD
CA3239735 rs753475241	779	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	779	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239734 rs765814218	780	A>T		No	ClinGen ExAC gnomAD
rs760180178 CA3239733	783	Q>K		No	ClinGen ExAC gnomAD
rs749875719 CA3239732	783	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA3239730 rs763549216	786	R>*		No	ClinGen ExAC gnomAD
CA117094033 rs149960589	786	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3239729 rs149960589	786	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769372512 CA117094015	789	Y>C		No	ClinGen Ensembl
rs1233996329 CA359520561	789	Y>H		No	ClinGen gnomAD
rs759680222 CA3239727	790	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3239726 rs776875260	791	A>P		No	ClinGen ExAC gnomAD
CA359520529 rs776875260	791	A>S		No	ClinGen ExAC gnomAD
CA359520523 rs1401322940	791	A>V		No	ClinGen gnomAD
rs1431283543 CA359520450	797	L>F		No	ClinGen TOPMed gnomAD
CA359520452 rs1431283543	797	L>V		No	ClinGen TOPMed gnomAD
rs1173135097 CA359520442	798	L>F		No	ClinGen gnomAD
rs546142126 CA117093993	799	C>W		No	ClinGen TOPMed
CA359520420 rs1192656375	799	C>Y		No	ClinGen TOPMed
CA359520413 rs1454512119	800	E>Q		No	ClinGen TOPMed
CA359520394 rs1175471238	801	H>Y		No	ClinGen TOPMed
rs1375497486 CA359520380	802	Q>E		No	ClinGen gnomAD
CA3239721 rs748068286	803	F>C		No	ClinGen ExAC gnomAD
rs1237192650 CA359520352	803	F>L		No	ClinGen gnomAD
CA3239720 rs376806446	805	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456734052 CA359520317	806	I>S		No	ClinGen gnomAD
rs1006255321 CA117093962	806	I>V		No	ClinGen Ensembl
rs1386407644 CA359520304	807	V>M		No	ClinGen TOPMed
CA359520284 rs1445484787	808	A>G		No	ClinGen TOPMed gnomAD
CA117093950 rs958717160	808	A>S		No	ClinGen Ensembl
rs1319414074 CA359520236	812	K>E		No	ClinGen TOPMed
rs1176891189 CA359520227	812	K>N		No	ClinGen gnomAD
rs1281322608 CA359520230	812	K>R		No	ClinGen gnomAD
CA117091583 rs1030739841	813	E>K		No	ClinGen Ensembl
CA117091582 rs1030739841	813	E>Q		No	ClinGen Ensembl
rs768453202 CA3239697	825	D>N		No	ClinGen ExAC gnomAD
rs1354560338 CA359519068	825	D>V		No	ClinGen gnomAD
CA3239696 rs151221761	827	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359519003 rs1377057258	828	I>M		No	ClinGen gnomAD
CA359519001 rs1238326342	829	R>G		No	ClinGen TOPMed gnomAD
rs1561774970 CA359518979	830	D>Y		No	ClinGen Ensembl
CA3239695 rs187295468	831	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs755852584 CA3239694	833	L>I		No	ClinGen ExAC gnomAD
CA359518831 rs1424142168	836	A>T		No	ClinGen TOPMed
COSM1328809 CA3239692 rs780853280	837	L>F	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1338590040 CA359518811	837	L>V		No	ClinGen gnomAD
CA3239691 rs543310944	838	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359518751 rs1292858526	839	A>V		No	ClinGen gnomAD
CA117091557 rs931613705	840	S>F		No	ClinGen TOPMed
CA3239689 rs765823901	841	L>F		No	ClinGen ExAC TOPMed gnomAD
CA359518699 rs1426103359	842	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	842	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239685 rs754296647	843	N>S		No	ClinGen ExAC
rs1165248495 CA359518622	845	Y>C		No	ClinGen gnomAD
CA3239683 rs558185229	845	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359518594 rs1236205302	846	I>T		No	ClinGen gnomAD
CA3239679 rs142961329	848	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774380177 CA3239678	850	A>T		No	ClinGen ExAC gnomAD
rs201980453 CA117091424	851	A>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs749163402 CA117091425	851	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3239676 COSM1486752 rs749163402	851	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA117091423 rs201980453	851	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1227483000 CA359518509	852	V>A		No	ClinGen gnomAD
TCGA novel	853	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293965836	858	H>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239675 rs775369740	858	H>R		No	ClinGen ExAC gnomAD
rs1339776144 CA359518369	859	L>S		No	ClinGen gnomAD
CA359518325 rs769407703	860	Q>H		No	ClinGen ExAC gnomAD
CA359518315 rs373561180	861	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3239672 rs373561180	861	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA359518317 rs1350057356	861	D>N		No	ClinGen gnomAD
rs866927328 CA117091372	862	I>T		No	ClinGen Ensembl
rs780941401 CA3239671	862	I>V		No	ClinGen ExAC gnomAD
CA3239669 rs145975462	866	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755567593 CA3239667	867	Y>H		No	ClinGen ExAC gnomAD
rs754246118 CA3239666	868	S>G		No	ClinGen ExAC gnomAD
rs780476180 CA3239665	868	S>T		No	ClinGen ExAC TOPMed gnomAD
CA359518183 rs1247489827	869	T>I		No	ClinGen gnomAD
CA359518167 rs1221165529	871	D>H		No	ClinGen gnomAD
rs756433867 CA3239664	872	A>S		No	ClinGen ExAC gnomAD
rs750669554 CA3239663	872	A>V		No	ClinGen ExAC gnomAD
CA3239662 rs767764338	873	I>V		No	ClinGen ExAC gnomAD
rs764265013 CA3239640	879	E>G		No	ClinGen ExAC gnomAD
CA117090368 rs370412278	882	Q>R		No	ClinGen ESP
rs762890792 CA3239639	883	R>C		No	ClinGen ExAC TOPMed gnomAD
rs144016077 CA3239638	883	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3239637 rs765306926	884	S>C		No	ClinGen ExAC gnomAD
rs1483496308 CA359516905	885	R>*		No	ClinGen gnomAD
rs759544201 CA3239636	885	R>Q		No	ClinGen ExAC gnomAD
rs770792486 CA3239634	887	V>G		No	ClinGen ExAC gnomAD
CA3239635 rs776625660	887	V>I		No	ClinGen ExAC gnomAD
CA359516684 rs1294081559	890	K>*		No	ClinGen TOPMed gnomAD
CA117090287 rs963265696	890	K>N		No	ClinGen TOPMed
rs192066457 CA3239633	890	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359516615 rs1561773796	892	E>D		No	ClinGen Ensembl
TCGA novel	895	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239631 rs139100942	902	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3239630 rs747664030	903	E>A		No	ClinGen ExAC TOPMed gnomAD
rs747664030 CA359516202	903	E>G		No	ClinGen ExAC TOPMed gnomAD
CA359516165 rs1302823852	904	Y>C		No	ClinGen TOPMed gnomAD
rs773843315 CA3239629	905	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1581141873 CA359516071	906	K>T		No	ClinGen Ensembl
rs770341205 CA3239628	909	N>T		No	ClinGen ExAC gnomAD
CA359515946 rs1362607107	909	N>Y		No	ClinGen gnomAD
rs1012795862 CA117090221	910	Q>E		No	ClinGen TOPMed gnomAD
rs1421762193 CA359515886	912	D>H		No	ClinGen gnomAD
CA3239627 rs746312378	915	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3239626 rs372477220	915	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3239625 rs757577737	916	V>L		No	ClinGen ExAC gnomAD
CA3239624 rs747275352	917	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1180090281 CA359515703	919	Q>*		No	ClinGen gnomAD
CA359515638 rs1276049296	921	R>G		No	ClinGen TOPMed
CA359515625 rs1488982904	921	R>K		No	ClinGen gnomAD
rs1469284959 CA359514788	925	F>L		No	ClinGen TOPMed
rs755073424 CA3239601	928	G>A		No	ClinGen ExAC gnomAD
rs755073424 CA3239600	928	G>V		No	ClinGen ExAC gnomAD
CA359514655 rs1320566900	929	V>M		No	ClinGen TOPMed gnomAD
rs1006817050 CA117088796	930	V>M		No	ClinGen Ensembl
rs753853325 CA3239599	931	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1279416000 CA359514593	931	E>K		No	ClinGen gnomAD
rs796190130 CA117088791	932	L>V		No	ClinGen Ensembl
rs766476048 CA3239598	933	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756050245 COSM4141799 CA3239597	934	L>V	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs750239242 CA3239596	935	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3239594 rs761372232	939	K>E		No	ClinGen ExAC gnomAD
rs369990299 CA3239593	939	K>R		No	ClinGen ESP ExAC gnomAD
CA117088763 rs200951055	942	P>L		No	ClinGen gnomAD
CA3239591 rs762498127	943	Q>P		No	ClinGen ExAC gnomAD
rs199635730 CA3239589	944	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761232757 CA3239588	945	L>F		No	ClinGen ExAC gnomAD
TCGA novel	945	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149244067 CA3239587	947	L>F		No	ClinGen ESP ExAC gnomAD
TCGA novel	949	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359513940 rs1459412360	952	H>Y		No	ClinGen gnomAD
CA3239586 rs772414894 COSM1695638	955	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772414894 CA117088704	955	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1554125402 CA359513814	956	E>G		No	ClinGen Ensembl
rs1327782569 CA359513823	956	E>Q		No	ClinGen TOPMed
CA3239584 rs768980730	960	V>A		No	ClinGen ExAC gnomAD
rs768980730 CA3239583	960	V>G		No	ClinGen ExAC gnomAD
CA3239585 rs748416533	960	V>I		No	ClinGen ExAC gnomAD
rs138342730 CA3239582	964	A>S		No	ClinGen ESP ExAC gnomAD
CA3239581 rs780165777	965	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA3239558 rs751422421	969	L>V		No	ClinGen ExAC gnomAD
CA3239557 rs777531652	971	S>N		No	ClinGen ExAC gnomAD
CA3239556 rs758060390	976	T>A		No	ClinGen ExAC TOPMed gnomAD
CA117081929 rs939757722	976	T>R		No	ClinGen TOPMed gnomAD
rs1472271568 CA359512870	977	D>G		No	ClinGen TOPMed
CA3239555 rs752330380	978	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3239553 rs759041363	981	E>G		No	ClinGen ExAC gnomAD
CA3239552 rs768113489	982	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1218891470 CA359512781	983	V>G		No	ClinGen gnomAD
rs1168579317 CA359512774	984	N>H		No	ClinGen TOPMed
CA117081920 rs930987393	988	A>V		No	ClinGen TOPMed gnomAD
CA359512711 rs1358255095 COSM1067823	989	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3239548 rs376271013	990	P>H		No	ClinGen ESP ExAC gnomAD
rs559678530 CA117081898	991	Q>P		No	ClinGen 1000Genomes
rs143230818 CA117081887	993	P>L		No	ClinGen ESP gnomAD
CA3239547 rs763296719	994	S>R		No	ClinGen ExAC gnomAD
rs1299426356 CA359512642	995	V>A		No	ClinGen gnomAD
CA359512637 rs139217838	996	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs139217838 CA3239546	996	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA359512631 rs1315845990	997	K>E		No	ClinGen TOPMed gnomAD
rs183966030 CA3239544	999	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA117081865 rs763336970	1000	G>D		No	ClinGen gnomAD
rs1164213712 CA359512605	1000	G>S		No	ClinGen gnomAD
CA3239543 rs776569229	1001	P>L		No	ClinGen ExAC gnomAD
rs1250729093 CA359512489	1010	M>I		No	ClinGen TOPMed
CA3239539 rs758150553	1012	S>N		No	ClinGen ExAC gnomAD
rs1253477556 CA359512452	1013	N>K		No	ClinGen TOPMed
rs747779941 CA3239538	1013	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1212846412 CA359512437	1015	E>K		No	ClinGen gnomAD
CA117081828 rs1044724682	1017	G>E		No	ClinGen Ensembl
rs1460427816 CA359512415	1017	G>R		No	ClinGen TOPMed
CA3239537 rs778678407	1018	H>N		No	ClinGen ExAC TOPMed gnomAD
rs753458835 CA3239536	1019	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA359512335 rs1199254753	1022	Q>E		No	ClinGen gnomAD
rs1306858697 CA359512319	1023	M>T		No	ClinGen gnomAD
rs1270190877 CA359512310	1024	L>I		No	ClinGen gnomAD
rs1220483635 CA359512297	1025	K>T		No	ClinGen gnomAD
CA359512282 rs759663950	1026	L>F		No	ClinGen ExAC TOPMed gnomAD
CA359512255 rs1197874238	1029	R>*		No	ClinGen gnomAD
rs776784941 CA3239525	1029	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746982345 CA359512229	1031	K>N		No	ClinGen ExAC gnomAD
CA3239524 rs374501700	1031	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs773086317 CA3239522	1033	E>G		No	ClinGen ExAC gnomAD
CA117081670 rs975463773	1038	A>T		No	ClinGen TOPMed
CA3239520 rs748018588	1040	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	1041	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359512067 rs778571654	1043	L>I		No	ClinGen ExAC gnomAD
CA359512061 rs1237886120	1043	L>P		No	ClinGen TOPMed
rs748821171 CA3239517	1044	I>M		No	ClinGen ExAC TOPMed gnomAD
CA359512030 rs1227851484	1045	Q>R		No	ClinGen gnomAD
CA359512011 rs1239709674	1046	V>L		No	ClinGen gnomAD
rs912846922 CA117081630	1047	D>N		No	ClinGen TOPMed gnomAD
CA3239514 rs749927379	1049	A>S		No	ClinGen ExAC TOPMed gnomAD
rs749927379 CA359511930	1049	A>T		No	ClinGen ExAC TOPMed gnomAD
rs983448846 CA117081615	1049	A>V		No	ClinGen Ensembl
CA359511893 rs1483680660	1051	K>E		No	ClinGen TOPMed
CA359511875 rs1312302435	1052	L>Q		No	ClinGen gnomAD
CA3239513 rs764736632	1052	L>V		No	ClinGen ExAC TOPMed gnomAD
rs200263549 CA3239500	1055	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs200263549 CA3239501	1055	V>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1056	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359511010 rs1256127825	1056	A>V		No	ClinGen gnomAD
rs1561769358 CA359510982	1058	P>S		No	ClinGen Ensembl
rs768291803 CA3239499	1059	F>L		No	ClinGen ExAC TOPMed gnomAD
CA359510910 rs1437536734	1061	E>D		No	ClinGen Ensembl
rs1470968836 CA359510864	1065	V>G		No	ClinGen TOPMed
CA3239497 rs779898687	1066	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769537015 CA3239496	1067	M>T		No	ClinGen ExAC gnomAD
CA359510848 rs1581134410	1067	M>V		No	ClinGen Ensembl
CA359510812 rs1316739192	1068	A>V		No	ClinGen gnomAD
rs745436269 CA359510787	1070	V>A		No	ClinGen ExAC TOPMed gnomAD
rs745436269 CA3239495	1070	V>G		No	ClinGen ExAC TOPMed gnomAD
CA359510780 rs1230592350	1071	D>N		No	ClinGen gnomAD
rs753078146 CA3239492	1075	V>A		No	ClinGen ExAC gnomAD
rs371223329 CA117080424	1075	V>I		No	ClinGen ESP TOPMed
rs559845218 CA3239489	1076	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559845218 CA3239490	1076	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750563925 CA3239486	1078	M>R		No	ClinGen ExAC gnomAD
CA3239487 rs760884792	1078	M>V	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1475457991 CA359510621	1079	D>H		No	ClinGen gnomAD
rs554780026 CA359510490	1083	R>P		No	ClinGen TOPMed gnomAD
rs554780026 CA117080403	1083	R>Q		No	ClinGen TOPMed gnomAD
rs767440970 CA3239485	1083	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774103498 CA3239483	1086	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3239481 rs201769194	1089	R>I		No	ClinGen 1000Genomes ExAC gnomAD
rs775419949 CA3239480	1091	F>C		No	ClinGen ExAC gnomAD
rs199530136 CA3239479	1093	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs745460418 CA3239478	1096	R>C		No	ClinGen ExAC TOPMed gnomAD
rs148111764 CA3239477	1096	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1209108892 CA359510140	1101	L>V		No	ClinGen TOPMed
rs1342521412 CA359510134	1102	A>T		No	ClinGen gnomAD
rs1296540619 CA359510085	1103	D>V		No	ClinGen gnomAD
CA359510025 rs748711707 CA3239475	1104	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3239474 rs200202942	1105	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1108	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239459 rs550009226	1108	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1173947476 CA359509866	1111	L>F		No	ClinGen gnomAD
CA117079860 rs946423750	1112	Q>E		No	ClinGen TOPMed
CA3239458 rs746543767	1113	Q>L		No	ClinGen ExAC gnomAD
rs746543767 CA3239457	1113	Q>R		No	ClinGen ExAC gnomAD
CA3239456 rs772777964	1114	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3239455 rs769104989	1114	R>L		No	ClinGen ExAC TOPMed gnomAD
rs769104989 CA359509818	1114	R>P		No	ClinGen ExAC TOPMed gnomAD
CA359509820 rs769104989	1114	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1419896401 CA359509781	1117	Y>S		No	ClinGen TOPMed
rs914994013 CA117079813	1118	I>T		No	ClinGen TOPMed
CA3239454 rs749740931	1120	R>G		No	ClinGen ExAC TOPMed gnomAD
rs373119361 CA3239453	1120	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs756417594 CA3239452	1126	K>R		No	ClinGen ExAC gnomAD
rs964444701 CA117079791	1129	T>N		No	ClinGen TOPMed
rs75034313 CA117079792	1129	T>P		No	ClinGen Ensembl
rs746206186 CA3239451	1131	I>T		No	ClinGen ExAC gnomAD
rs911463161 CA117079784	1131	I>V		No	ClinGen TOPMed gnomAD
COSM3736835 CA3239450 rs781306807	1132	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3239449 rs757495054	1134	I>V		No	ClinGen ExAC gnomAD
CA359509432 rs1374837896	1135	A>V		No	ClinGen TOPMed gnomAD
rs751646763 CA3239448	1136	A>V		No	ClinGen ExAC gnomAD
rs758413180 CA3239446	1137	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1137	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389171942 CA359509354	1140	F>S		No	ClinGen gnomAD
CA359509338 rs1403792212	1141	L>P		No	ClinGen TOPMed gnomAD
CA359509281 rs1239841299	1144	L>*		No	ClinGen TOPMed
CA359509273 rs1172111306	1145	E>K		No	ClinGen gnomAD
CA359509235 rs1316125461	1147	K>E		No	ClinGen TOPMed
CA3239442 rs776458224	1148	M>V		No	ClinGen ExAC gnomAD
CA3239427 rs779034432	1152	R>G		No	ClinGen ExAC gnomAD
CA3239426 rs754963210	1152	R>S		No	ClinGen ExAC gnomAD
rs753636675 CA359508528	1155	L>F		No	ClinGen ExAC gnomAD
rs753636675 CA3239425	1155	L>I		No	ClinGen ExAC gnomAD
CA3239424 rs766143722	1156	Q>L		No	ClinGen ExAC gnomAD
CA3239423 rs760252701	1157	I>L		No	ClinGen ExAC gnomAD
CA117078898 rs868018193	1157	I>M		No	ClinGen Ensembl
rs1195455916 CA359508494	1158	Q>E		No	ClinGen TOPMed
CA117078897 rs772262563	1159	E>G		No	ClinGen Ensembl
rs1283211301 CA359508442	1161	L>I		No	ClinGen TOPMed gnomAD
CA359508430 rs1203194687	1161	L>P		No	ClinGen gnomAD
rs1203194687 CA359508434	1161	L>Q		No	ClinGen gnomAD
rs1203194687 CA359508436	1161	L>R		No	ClinGen gnomAD
rs750056606 CA3239422	1163	R>K		No	ClinGen ExAC gnomAD
CA359508392 rs767130555	1163	R>S		No	ClinGen ExAC gnomAD
CA3239420 rs372218887	1164	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA117078877 rs748884319	1167	H>Y		No	ClinGen Ensembl
TCGA novel	1168	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs892976444 CA117078874	1168	H>R		No	ClinGen Ensembl
rs1271560865 CA359508274	1169	S>Y		No	ClinGen gnomAD
TCGA novel	1170	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA117078869 rs1054265553	1170	S>P		No	ClinGen TOPMed gnomAD
CA3239416 rs776862270	1171	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1211380560 CA359508203	1173	D>G		No	ClinGen gnomAD
CA3239414 rs747218270	1178	L>R		No	ClinGen ExAC gnomAD
rs1415694905 CA359508109	1179	D>G		No	ClinGen gnomAD
TCGA novel	1179	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460970188 CA359508115	1179	D>Y		No	ClinGen gnomAD
TCGA novel	1182	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778190155 CA3239413	1183	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3239412 rs772393691	1184	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1190732388 CA359507999	1185	I>V		No	ClinGen gnomAD
CA3239397 rs771320677	1190	G>R		No	ClinGen ExAC gnomAD
rs1240332904 CA359507740	1191	E>K		No	ClinGen TOPMed gnomAD
rs1204566358 CA359507727	1192	F>L		No	ClinGen gnomAD
TCGA novel	1194	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761142575 CA3239396	1194	D>V		No	ClinGen ExAC gnomAD
CA359507682 rs1377325107	1196	F>L		No	ClinGen TOPMed
CA359507672 rs1581130562	1196	F>L		No	ClinGen Ensembl
TCGA novel	1198	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773708725 CA3239395	1199	A>E		No	ClinGen ExAC gnomAD
CA359507564 rs1581130553	1202	K>Q		No	ClinGen Ensembl
rs983905636 CA117077319	1203	L>F		No	ClinGen Ensembl
rs145640004 CA3239392	1204	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs145640004 CA3239393	1204	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304574201 CA359507513	1205	I>V		No	ClinGen TOPMed gnomAD
rs768744950 CA3239391	1206	I>S		No	ClinGen ExAC TOPMed gnomAD
rs768744950 CA359507482	1206	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3239390 rs749209416	1207	H>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1209	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239388 rs755997412	1210	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1354070555 CA359507389	1211	Y>H		No	ClinGen gnomAD
rs1208034355 CA359507325	1214	P>A		No	ClinGen TOPMed
CA3239387 rs745718041	1214	P>L		No	ClinGen ExAC TOPMed gnomAD
CA359507267 rs1436750530	1217	V>A		No	ClinGen gnomAD
CA3239385 rs756905562	1219	T>I		No	ClinGen ExAC gnomAD
rs1366645817 CA359507088	1225	I>V		No	ClinGen TOPMed gnomAD
CA117076991 rs970145222	1229	L>F		No	ClinGen Ensembl
rs775431716 CA3239368	1229	L>W		No	ClinGen ExAC
rs577959541 CA3239367	1230	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745750739 CA3239366	1232	S>R		No	ClinGen ExAC gnomAD
rs1409692879 CA359506780	1232	S>T		No	ClinGen gnomAD
rs144851445 CA3239365	1234	T>P		No	ClinGen ESP ExAC gnomAD
rs539182402 CA117076975	1235	L>W		No	ClinGen gnomAD
CA117076974 rs867997021	1237	S>P		No	ClinGen TOPMed gnomAD
CA3239363 rs146473381	1238	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369373259 CA359506564	1239	D>E		No	ClinGen TOPMed
TCGA novel	1242	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534726776 CA3239360	1249	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA3239359 rs764584056	1251	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs756656079 CA3239358	1251	L>P		No	ClinGen ExAC gnomAD
CA359506017 rs1581129925	1253	K>I		No	ClinGen Ensembl
rs151163391 CA117076956	1253	K>N		No	ClinGen ESP TOPMed gnomAD
rs768020997 CA3239356	1256	A>V		No	ClinGen ExAC gnomAD
CA359505823 rs1447765648	1257	G>D		No	ClinGen TOPMed
CA3239354 rs374698290	1258	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1289180343 CA359505766	1258	T>I		No	ClinGen gnomAD
CA359505739 rs1581129883	1259	P>A		No	ClinGen Ensembl
rs764447032 CA3239353	1260	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs142078226 CA3239352	1260	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1461498520 CA359505562	1262	F>S		No	ClinGen gnomAD
CA3239326 rs760539068	1265	D>E		No	ClinGen ExAC gnomAD
CA117074227 rs1002249002	1266	F>C		No	ClinGen TOPMed
rs773071536 CA3239325	1267	I>T		No	ClinGen ExAC gnomAD
CA359503110 rs1172767997	1269	Q>H		No	ClinGen TOPMed
CA359503091 rs1340307703	1270	F>S		No	ClinGen gnomAD
rs771713307 CA3239324	1272	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA359502956 rs1370133540	1273	Q>*		No	ClinGen gnomAD
rs1392624600 CA359502876	1276	C>S		No	ClinGen TOPMed gnomAD
rs1421443415 CA359502792	1278	L>F		No	ClinGen TOPMed
CA359502720 rs1561762977	1281	D>G		No	ClinGen Ensembl
rs1396516370 CA359502710	1282	V>M		No	ClinGen gnomAD
CA3239322 rs778467219	1283	G>V		No	ClinGen ExAC gnomAD
CA3239320 rs200055806	1285	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1436542376 CA359502603	1286	I>M		No	ClinGen TOPMed
CA359502581 rs1377552460	1287	Q>*		No	ClinGen gnomAD
CA359502556 rs1197442517	1287	Q>L		No	ClinGen gnomAD
CA359502577 rs1197442517	1287	Q>P		No	ClinGen gnomAD
CA3239319 rs148603108	1289	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757856280 CA3239318	1292	I>T		No	ClinGen ExAC gnomAD
rs778232704 CA3239317	1293	G>A		No	ClinGen ExAC gnomAD
rs778232704 CA3239316	1293	G>E		No	ClinGen ExAC gnomAD
rs376953622 CA3239315	1294	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1233042061 CA359502378	1295	P>A		No	ClinGen TOPMed
rs1045908 CA359502322	1296	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1297	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239311 rs753918999	1297	P>S		No	ClinGen ExAC gnomAD
CA359502291 rs1399516949	1298	R>K		No	ClinGen gnomAD
rs772980908 CA3239309	1301	E>K		No	ClinGen ExAC gnomAD
CA3239308 rs772980908	1301	E>Q		No	ClinGen ExAC gnomAD
rs767454731 CA3239307	1301	E>V		No	ClinGen ExAC gnomAD
rs1376861263 CA359502183	1302	V>I		No	ClinGen gnomAD
rs1178414559 CA359502112	1304	D>E		No	ClinGen gnomAD
rs1222584862 CA359502107	1305	Q>E		No	ClinGen TOPMed
CA359502100 rs1581124106	1305	Q>R		No	ClinGen Ensembl
CA3239305 rs774178827	1306	L>F		No	ClinGen ExAC gnomAD
rs1284156587 CA359501943	1308	K>I		No	ClinGen TOPMed
CA3239304 rs768431722	1310	R>L		No	ClinGen ExAC TOPMed gnomAD
CA359501883 rs768431722	1310	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA359501885 COSM1437382 rs1435711533	1310	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1308519454 CA359501081	1313	F>L		No	ClinGen TOPMed
TCGA novel	1314	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239286 rs774305353	1315	N>S		No	ClinGen ExAC TOPMed gnomAD
CA117073334 rs201857009	1317	M>K		No	ClinGen 1000Genomes
rs1483016810 CA359500927	1320	P>S		No	ClinGen TOPMed
rs530239538 CA3239284	1322	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA359500889 rs1447431365	1323	L>I		No	ClinGen TOPMed gnomAD
CA359500807 rs1259723573	1327	I>M		No	ClinGen TOPMed
rs140930836 CA3239283	1328	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206678170 CA359500799	1328	H>L		No	ClinGen TOPMed gnomAD
rs1206678170 CA359500800	1328	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	1329	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359500744 rs1336860967	1331	L>F		No	ClinGen gnomAD
CA359500725 rs1227267674	1332	I>T		No	ClinGen TOPMed gnomAD
rs769549565 CA3239282	1332	I>V		No	ClinGen ExAC gnomAD
CA359500710 rs1271614235	1333	R>G		No	ClinGen gnomAD
CA3239280 rs776200098	1333	R>K		No	ClinGen ExAC TOPMed gnomAD
rs776200098 CA359500704	1333	R>T		No	ClinGen ExAC TOPMed gnomAD
rs748629905 CA3239278	1337	N>S		No	ClinGen ExAC gnomAD
CA359500570 rs1397346969	1340	Q>E		No	ClinGen TOPMed gnomAD
CA359500572 rs1397346969	1340	Q>K		No	ClinGen TOPMed gnomAD
rs1045463942 CA117073302	1343	N>K		No	ClinGen gnomAD
rs1404876183 CA359500494	1344	C>R		No	ClinGen gnomAD
rs1258024160 CA359500489	1344	C>Y		No	ClinGen TOPMed gnomAD
CA359500358 rs1482508697	1347	R>G		No	ClinGen gnomAD
rs956020131 CA117072870	1347	R>K		No	ClinGen TOPMed gnomAD
CA359500329 rs1176194207	1348	R>T		No	ClinGen TOPMed
rs749708102 CA3239253	1349	F>C		No	ClinGen ExAC TOPMed gnomAD
rs749708102 CA117072852	1349	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1366152789 CA359500262	1351	N>D		No	ClinGen gnomAD
CA3239252 rs780388877	1352	L>F		No	ClinGen ExAC gnomAD
TCGA novel	1352	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3239250 rs746058015	1353	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1027929074 CA117072826	1354	L>R		No	ClinGen gnomAD
CA3239249 rs35260031	1354	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1175101230 CA359500169	1356	A>S		No	ClinGen gnomAD
CA3239247 rs751669672	1357	V>A		No	ClinGen ExAC gnomAD
CA359500154 rs1365113116	1357	V>L		No	ClinGen TOPMed
CA359500083 rs1177239700	1360	Y>*		No	ClinGen gnomAD
CA359500100 rs1581121426	1360	Y>S		No	ClinGen Ensembl
CA359500006 rs1303531202	1364	L>F		No	ClinGen TOPMed
rs1209732982 CA359499989	1365	Q>*		No	ClinGen TOPMed
CA359499980 rs1249141642	1365	Q>L		No	ClinGen gnomAD
CA3239245 COSM1311133 rs140076285	1366	S>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3239243 rs748871628	1367	M>V		No	ClinGen ExAC TOPMed gnomAD
CA359499887 rs1209885529	1368	S>N		No	ClinGen gnomAD
rs1310935665 CA359499865	1369	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA359499788 rs1448813136	1373	V>I		No	ClinGen TOPMed
rs1185534544 CA359499744	1374	Q>H		No	ClinGen TOPMed gnomAD
rs753487588 CA3239241	1375	A>T		No	ClinGen ExAC gnomAD
rs1286550923 CA359499714	1376	I>L		No	ClinGen gnomAD
rs1461867218 CA359499686	1376	I>M		No	ClinGen TOPMed gnomAD
rs1426708210 CA359499698	1376	I>N		No	ClinGen TOPMed
rs1286550923 CA359499711	1376	I>V		No	ClinGen gnomAD
CA3239239 rs760224496	1378	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1388942037 CA359499549	1383	L>V		No	ClinGen TOPMed
CA359499509 rs1458430449	1384	Q>R		No	ClinGen TOPMed
rs772693068 CA3239238	1385	A>D		No	ClinGen ExAC gnomAD
TCGA novel	1387	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1346887428 CA359499362	1388	E>A		No	ClinGen gnomAD
rs1346887428 CA359499364	1388	E>G		No	ClinGen gnomAD
CA3239236 rs202194194	1389	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1218073 rs777285421 CA3239237	1389	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD

1 associated diseases with O75694

[MIM: 615770]: Atrial fibrillation, familial, 15 (ATFB15)

A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:19070573}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:19070573}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for O75694

Type	Name	Position	InterPro Accession
domain	Nucleoporin, Nup133/Nup155-like, C-terminal	776 - 1178	IPR007187
domain	Nucleoporin, Nup133/Nup155-like, N-terminal	79 - 508	IPR014908

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nuclear pore complex Nucleus membrane ; Peripheral membrane protein ; Cytoplasmic side Nucleus membrane ; Peripheral membrane protein ; Nucleoplasmic side	In mitosis, assumes a diffuse cytoplasmic distribution probably as a monomer, before reversing back into a punctate nuclear surface localization at the end of mitosis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 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.
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 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.
nuclear pore inner ring	A subcomplex of the nuclear pore complex (NPC) that forms the inner rings of the core scaffold, a lattice-like structure that gives the NPC its shape and strength. In S. cerevisiae, the two inner rings are each composed of Nup192p, Nup188p, Nup170p and Nup157p. In vertebrates, the two inner rings are each composed of Nup205, Nup188 and Nup155. Components are arranged in 8-fold symmetrical 'spokes' around the central transport channel. A single 'spoke', can be isolated and is sometimes referred to as the Nup170 complex.

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.

9 GO annotations of biological process

Name	Definition
atrial cardiac muscle cell action potential	An action potential that occurs in an atrial cardiac muscle cell.
miRNA processing	A process leading to the generation of a functional miRNA. Includes the cleavage of stem-loop RNA precursors into microRNAs (miRNAs). miRNAs are a class of small RNAs that primarily silence genes by blocking the translation of mRNA transcripts into protein, or by increasing the degradation of non-protein-coding RNA transcripts.
mRNA export from nucleus	The directed movement of mRNA from the nucleus to the cytoplasm.
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.
nucleocytoplasmic transport	The directed movement of molecules between the nucleus and the cytoplasm.
protein import into nucleus	The directed movement of a protein from the cytoplasm to the nucleus.
protein localization to nuclear inner membrane	A process in which a protein is transported to, or maintained in, a location within the nuclear inner membrane.
RNA export from nucleus	The directed movement of RNA from the nucleus to the cytoplasm.
transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	The chromosome organization process in which the DNA sequence containing a gene transcribed by RNA polymerase II is maintained in a specific location at the nuclear periphery. In S. cerevisiae, this process involves cis-acting DNA sequences such as the TATA box and upstream activating sequence (UAS) elements, trans-acting transcriptional activators, and also the 3'-UTR of the transcript.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q99P88	Nup155	Nuclear pore complex protein Nup155	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPSSLLGAAM	PASTSAAALQ	EALENAGRLI	DRQLQEDRMY	PDLSELLMVS	APNNPTVSGM
70	80	90	100	110	120
SDMDYPLQGP	GLLSVPNLPE	ISSIRRVPLP	PELVEQFGHM	QCNCMMGVFP	PISRAWLTID
130	140	150	160	170	180
SDIFMWNYED	GGDLAYFDGL	SETILAVGLV	KPKAGIFQPH	VRHLLVLATP	VDIVILGLSY
190	200	210	220	230	240
ANLQTGSGVL	NDSLSGGMQL	LPDPLYSLPT	DNTYLLTITS	TDNGRIFLAG	KDGCLYEVAY
250	260	270	280	290	300
QAEAGWFSQR	CRKINHSKSS	LSFLVPSLLQ	FTFSEDDPIL	QIAIDNSRNI	LYTRSEKGVI
310	320	330	340	350	360
QVYDLGQDGQ	GMSRVASVSQ	NAIVSAAGNI	ARTIDRSVFK	PIVQIAVIEN	SESLDCQLLA
370	380	390	400	410	420
VTHAGVRLYF	STCPFRQPLA	RPNTLTLVHV	RLPPGFSASS	TVEKPSKVHR	ALYSKGILLM
430	440	450	460	470	480
AASENEDNDI	LWCVNHDTFP	FQKPMMETQM	TAGVDGHSWA	LSAIDELKVD	KIITPLNKDH
490	500	510	520	530	540
IPITDSPVVV	QQHMLPPKKF	VLLSAQGSLM	FHKLRPVDQL	RHLLVSNVGG	DGEEIERFFK
550	560	570	580	590	600
LHQEDQACAT	CLILACSTAA	CDREVSAWAT	RAFFRYGGEA	QMRFPTTLPP	PSNVGPILGS
610	620	630	640	650	660
PVYSSSPVPS	GSPYPNPSFL	GTPSHGIQPP	AMSTPVCALG	NPATQATNMS	CVTGPEIVYS
670	680	690	700	710	720
GKHNGICIYF	SRIMGNIWDA	SLVVERIFKS	GNREITAIES	SVPCQLLESV	LQELKGLQEF
730	740	750	760	770	780
LDRNSQFAGG	PLGNPNTTAK	VQQRLIGFMR	PENGNPQQMQ	QELQRKFHEA	QLSEKISLQA
790	800	810	820	830	840
IQQLVRKSYQ	ALALWKLLCE	HQFTIIVAEL	QKELQEQLKI	TTFKDLVIRD	KELTGALIAS
850	860	870	880	890	900
LINCYIRDNA	AVDGISLHLQ	DICPLLYSTD	DAICSKANEL	LQRSRQVQNK	TEKERMLRES
910	920	930	940	950	960
LKEYQKISNQ	VDLSNVCAQY	RQVRFYEGVV	ELSLTAAEKK	DPQGLGLHFY	KHGEPEEDIV
970	980	990	1000	1010	1020
GLQAFQERLN	SYKCITDTLQ	ELVNQSKAAP	QSPSVPKKPG	PPVLSSDPNM	LSNEEAGHHF
1030	1040	1050	1060	1070	1080
EQMLKLSQRS	KDELFSIALY	NWLIQVDLAD	KLLQVASPFL	EPHLVRMAKV	DQNRVRYMDL
1090	1100	1110	1120	1130	1140
LWRYYEKNRS	FSNAARVLSR	LADMHSTEIS	LQQRLEYIAR	AILSAKSSTA	ISSIAADGEF
1150	1160	1170	1180	1190	1200
LHELEEKMEV	ARIQLQIQET	LQRQYSHHSS	VQDAVSQLDS	ELMDITKLYG	EFADPFKLAE
1210	1220	1230	1240	1250	1260
CKLAIIHCAG	YSDPILVQTL	WQDIIEKELS	DSVTLSSSDR	MHALSLKIVL	LGKIYAGTPR
1270	1280	1290	1300	1310	1320
FFPLDFIVQF	LEQQVCTLNW	DVGFVIQTMN	EIGVPLPRLL	EVYDQLFKSR	DPFWNRMKKP
1330	1340	1350	1360	1370	1380
LHLLDCIHVL	LIRYVENPSQ	VLNCERRRFT	NLCLDAVCGY	LVELQSMSSS	VAVQAITGNF
1390
KSLQAKLERL	H