AiPD: Autoinhibited Protein Database

P55884

Gene name	EIF3B
Protein name	Eukaryotic translation initiation factor 3 subunit B
Names	eIF3b, Eukaryotic translation initiation factor 3 subunit 9, Prt1 homolog, hPrt1, eIF-3-eta, eIF3 p110, eIF3 p116
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8662
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-214 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-214 (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

13 structures for P55884

Entry ID	Method	Resolution	Chain	Position	Source
2KRB	NMR	-	A	184-264	PDB
2NLW	NMR	-	A	170-274	PDB
5K1H	EM	490 A	B	170-745	PDB
6YBT	EM	600 A	1	1-814	PDB
6ZMW	EM	370 A	1	1-814	PDB
6ZON	EM	300 A	B	1-814	PDB
6ZP4	EM	290 A	B	1-814	PDB
6ZVJ	EM	380 A	B	180-745	PDB
7A09	EM	350 A	B	1-814	PDB
7QP6	EM	470 A	1	1-813	PDB
7QP7	EM	370 A	1	1-813	PDB
8OZ0	EM	350 A	I	1-814	PDB
AF-P55884-F1	Predicted				AlphaFoldDB

683 variants for P55884

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA366615158 rs1252801571	2	Q>*		No	ClinGen gnomAD
CA366615160 rs1252801571	2	Q>K		No	ClinGen gnomAD
CA366615162 rs1480264668	2	Q>P		No	ClinGen TOPMed gnomAD
CA366615164 rs1480264668	2	Q>R		No	ClinGen TOPMed gnomAD
CA366615171 rs1189817073	3	D>N		No	ClinGen gnomAD
CA366615185 rs1459066307	4	A>T		No	ClinGen TOPMed
rs757942602 CA4125140	4	A>V		No	ClinGen ExAC TOPMed gnomAD
CA366615205 rs1416306695	6	N>H		No	ClinGen TOPMed
rs1407555666 CA366615211	6	N>S		No	ClinGen Ensembl
rs566446708 CA152637330	7	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs536170252 CA152637340	8	A>E		No	ClinGen 1000Genomes
rs536170252 CA366615233	8	A>V		No	ClinGen 1000Genomes
CA366615236 rs1184871623	9	V>L		No	ClinGen TOPMed
TCGA novel	9	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366615252 rs1427265896	10	P>L		No	ClinGen gnomAD
CA152637354 rs11551169	11	E>*		No	ClinGen TOPMed
rs11551169 CA366615256	11	E>Q		No	ClinGen TOPMed
CA366615271 rs1266303015	12	A>V		No	ClinGen TOPMed
rs1220528671 CA366615273	13	A>T		No	ClinGen TOPMed
rs1309389028 CA366615282	14	E>K		No	ClinGen TOPMed gnomAD
rs1309389028 CA366615280	14	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	15	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359836177 CA366615295	15	E>G		No	ClinGen gnomAD
TCGA novel	15	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292755358 CA366615312	17	A>D		No	ClinGen TOPMed
CA366615309 rs940228309	17	A>P		No	ClinGen TOPMed gnomAD
CA152637363 rs940228309	17	A>T		No	ClinGen TOPMed gnomAD
CA366615323 rs1369490620	18	E>D		No	ClinGen TOPMed gnomAD
CA366615317 rs1272815595	18	E>K		No	ClinGen TOPMed gnomAD
rs1219677877 CA366615337	20	G>C		No	ClinGen TOPMed gnomAD
rs1219677877 CA366615334	20	G>S		No	ClinGen TOPMed gnomAD
CA366615380 rs1461240256	23	Q>E		No	ClinGen TOPMed
rs1392826926 CA366615386	23	Q>L		No	ClinGen TOPMed
CA366615400 rs1173282162	24	P>A		No	ClinGen TOPMed
CA152637381 rs898602556	25	A>P		No	ClinGen TOPMed
rs898602556 CA152637375	25	A>T		No	ClinGen TOPMed
CA366615424 rs1435029577	25	A>V		No	ClinGen TOPMed
CA152637392 rs1028394118	29	P>L		No	ClinGen TOPMed gnomAD
rs1190897098 CA366615522	30	P>S		No	ClinGen TOPMed
CA366615553 rs1207362896	31	A>G		No	ClinGen TOPMed gnomAD
CA366615560 rs1207362896	31	A>V		No	ClinGen TOPMed gnomAD
rs889806096 CA152637396	33	G>E		No	ClinGen TOPMed gnomAD
rs1239400546 CA366615599	33	G>R		No	ClinGen TOPMed gnomAD
rs1239400546 CA366615602	33	G>W		No	ClinGen TOPMed gnomAD
CA366615662 rs1275502302	36	R>W		No	ClinGen gnomAD
rs1312328023 CA366615700	37	P>L		No	ClinGen TOPMed
rs1312328023 CA366615696	37	P>R		No	ClinGen TOPMed
CA366615721 rs1219687810	38	A>E		No	ClinGen TOPMed gnomAD
CA152637408 rs955950785	40	P>S		No	ClinGen TOPMed gnomAD
rs955950785 CA366615746	40	P>T		No	ClinGen TOPMed gnomAD
rs988647479 CA152637412	41	G>D		No	ClinGen TOPMed
rs1297021840 CA366615780	41	G>S		No	ClinGen TOPMed
CA366615802 rs1562470715	43	P>L		No	ClinGen Ensembl
CA366615826 rs1378207008	45	A>S		No	ClinGen TOPMed
rs1021447265 CA152637415	46	A>T		No	ClinGen TOPMed gnomAD
rs979877795 CA152637422	47	G>V		No	ClinGen TOPMed
CA152637426 rs927045802	48	T>S		No	ClinGen TOPMed gnomAD
CA366615894 rs1173107097	50	A>T		No	ClinGen TOPMed gnomAD
CA152637436 rs960015417	53	E>K		No	ClinGen TOPMed gnomAD
rs1452043828 CA366615965	54	E>K		No	ClinGen gnomAD
rs1337514613 CA366615977	54	E>V		No	ClinGen gnomAD
rs1478570475 CA366615988	55	V>L		No	ClinGen TOPMed gnomAD
CA366615986 rs1478570475	55	V>M		No	ClinGen TOPMed gnomAD
rs1451942132 CA366616012	56	G>V		No	ClinGen gnomAD
rs1388852172 CA366616007	56	G>W		No	ClinGen gnomAD
CA366616021 rs1370667464	57	I>F		No	ClinGen gnomAD
CA366616027 rs1355357340	57	I>T		No	ClinGen TOPMed
CA366616040 rs1351335362	58	A>E		No	ClinGen gnomAD
CA366616037 rs1321190910	58	A>S		No	ClinGen gnomAD
rs1351335362 CA366616042	58	A>V		No	ClinGen gnomAD
CA366616061 rs918165084	59	E>A		No	ClinGen TOPMed gnomAD
CA152637454 rs918165084	59	E>G		No	ClinGen TOPMed gnomAD
rs1230567264 CA366616078	60	A>D		No	ClinGen gnomAD
CA366616070 rs1362913914	60	A>T		No	ClinGen TOPMed gnomAD
rs1230567264 CA366616080	60	A>V		No	ClinGen gnomAD
CA366616102 rs1226769269	61	G>E		No	ClinGen gnomAD
CA366616095 rs1355762829 CA366616092	61	G>R		No	ClinGen TOPMed gnomAD
CA366616097 rs1355762829	61	G>W		No	ClinGen TOPMed gnomAD
rs1208481747 CA366616122	62	P>L		No	ClinGen TOPMed gnomAD
rs1452475940 CA366616121	62	P>S		No	ClinGen gnomAD
CA366616142 rs1466615563	63	E>*		No	ClinGen gnomAD
rs1562471015 CA572357431	64	S>*		No	ClinGen Ensembl
CA366616163 rs9690787	64	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs9690787 CA4125145 VAR_047972	64	S>P		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA366616185 rs1472180720	65	E>*		No	ClinGen gnomAD
rs1415487965 CA366616201	65	E>D		No	ClinGen gnomAD
CA366616189 rs1161018349	65	E>G		No	ClinGen gnomAD
rs1319605276 CA366616215	66	V>A		No	ClinGen gnomAD
rs1405641241 CA366616206	66	V>M		No	ClinGen gnomAD
rs1386227493 CA366616223	67	R>G		No	ClinGen gnomAD
rs1437133073 CA366616235	67	R>K		No	ClinGen TOPMed gnomAD
CA366616239 rs1321159894	67	R>S		No	ClinGen TOPMed gnomAD
CA366616236 rs1437133073	67	R>T		No	ClinGen TOPMed gnomAD
CA366616244 rs1339883612	68	T>A		No	ClinGen TOPMed gnomAD
rs1445908087 CA366616253	68	T>I		No	ClinGen gnomAD
CA366616247 rs1339883612	68	T>S		No	ClinGen TOPMed gnomAD
rs1214737662 CA366616280	69	E>D		No	ClinGen gnomAD
rs1256756779 CA366616270	69	E>G		No	ClinGen TOPMed
CA366616255 rs1357294414	69	E>K		No	ClinGen gnomAD
CA152637469 rs1037174818	70	P>L		No	ClinGen TOPMed gnomAD
rs1037174818 CA366616286	70	P>Q		No	ClinGen TOPMed gnomAD
CA366616285 rs1228059961	70	P>S		No	ClinGen TOPMed gnomAD
rs770231857 CA4125146	71	A>E		No	ClinGen ExAC TOPMed
rs770231857 CA366616305	71	A>V		No	ClinGen ExAC TOPMed
CA366616313 rs1209832539	72	A>T		No	ClinGen gnomAD
CA152637480 rs920122356	74	A>S		No	ClinGen TOPMed gnomAD
CA152637483 rs931461785	76	A>V		No	ClinGen TOPMed
CA366616412 rs1441246794	77	A>T		No	ClinGen gnomAD
rs1184747289 CA366616425	77	A>V		No	ClinGen TOPMed gnomAD
rs775676864 CA4125147	79	G>D		No	ClinGen ExAC TOPMed gnomAD
rs569483143 CA4125148	80	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1475306399 CA366616517	80	P>S		No	ClinGen gnomAD
CA366616546 rs1298891834	81	S>F		No	ClinGen TOPMed
CA366616570 rs1400285467	82	E>Q		No	ClinGen TOPMed
rs1458624463 CA366616602	83	S>L		No	ClinGen gnomAD
rs1159720317 CA366616608	84	P>A		No	ClinGen TOPMed gnomAD
rs1159720317 CA366616612	84	P>S		No	ClinGen TOPMed gnomAD
rs1458258075 CA366616643	86	P>A		No	ClinGen TOPMed
rs1417049142 CA366616665	86	P>L		No	ClinGen TOPMed
rs1394270605 CA366616670	87	P>A		No	ClinGen TOPMed gnomAD
CA366616676 rs1478764674	87	P>L		No	ClinGen TOPMed
rs889868304 CA152637525	88	A>V		No	ClinGen TOPMed
rs1336214842 CA366616726	89	A>V		No	ClinGen gnomAD
rs774710517 CA366616778	92	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4125151 rs762042914	93	P>L		No	ClinGen ExAC TOPMed gnomAD
CA366616793 rs1409376267	93	P>S		No	ClinGen gnomAD
CA366616806 rs1229381301	94	G>A		No	ClinGen TOPMed gnomAD
CA152637529 rs1008651554	94	G>R		No	ClinGen TOPMed gnomAD
CA366616821 rs1255817688	95	S>L		No	ClinGen TOPMed gnomAD
CA4125152 rs767685006	96	H>P		No	ClinGen ExAC
rs1280070664 CA366616835	97	A>T		No	ClinGen gnomAD
rs538046913 CA4125153	97	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366616862 rs1324879697	98	E>A		No	ClinGen TOPMed
rs1039052542 CA152637550	98	E>D		No	ClinGen TOPMed gnomAD
rs759355139 CA4125154	99	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1021029394 CA152637564	100	P>R		No	ClinGen TOPMed gnomAD
rs1010977724 CA366616902	100	P>S		No	ClinGen TOPMed gnomAD
rs1010977724 CA152637558	100	P>T		No	ClinGen TOPMed gnomAD
rs11551168 CA152637576	102	P>L		No	ClinGen TOPMed gnomAD
rs758078180 CA4125157	103	A>V		No	ClinGen ExAC gnomAD
CA366616949 rs1474166705	104	Q>*		No	ClinGen TOPMed
rs968564670 CA152637597	104	Q>P		No	ClinGen TOPMed gnomAD
CA152637605 rs1001373531	105	G>D		No	ClinGen TOPMed gnomAD
rs1199216067 CA366616965	105	G>S		No	ClinGen TOPMed
rs1372615513 CA366616980	106	E>K		No	ClinGen gnomAD
CA366616994 rs1410708646	106	E>V		No	ClinGen gnomAD
CA366617004 rs1300965664	107	A>S		No	ClinGen TOPMed gnomAD
rs1300965664 CA366617001	107	A>T		No	ClinGen TOPMed gnomAD
CA152637611 rs1034549113	107	A>V		No	ClinGen TOPMed gnomAD
CA152637617 rs966514301	108	P>L		No	ClinGen TOPMed
rs966514301 CA366617025	108	P>R		No	ClinGen TOPMed
rs1235999032 CA366617016	108	P>S		No	ClinGen TOPMed gnomAD
rs777353009 CA152637645	109	G>A		No	ClinGen ExAC gnomAD
rs777353009 CA4125158	109	G>E		No	ClinGen ExAC gnomAD
rs1275969474 CA366617031	109	G>R		No	ClinGen gnomAD
CA366617061 rs1271922015	111	Q>E		No	ClinGen gnomAD
CA366617080 rs1483814971	112	A>P		No	ClinGen gnomAD
CA366617082 rs1562471466	112	A>V		No	ClinGen Ensembl
rs1034867264 CA152637647	113	R>L		No	ClinGen gnomAD
CA366617093 rs1034867264	113	R>P		No	ClinGen gnomAD
CA366617087 rs1196049735	113	R>W		No	ClinGen gnomAD
CA366617113 rs959783942	114	D>E		No	ClinGen TOPMed gnomAD
CA366617100 rs751195596	114	D>H		No	ClinGen ExAC TOPMed gnomAD
CA4125160 rs756807280	114	D>V		No	ClinGen ExAC gnomAD
CA4125159 rs751195596	114	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1372518888 CA366617130	115	E>D		No	ClinGen TOPMed gnomAD
CA152637655 rs907505881	115	E>G		No	ClinGen TOPMed gnomAD
rs992921216 CA152637653	115	E>K		No	ClinGen TOPMed gnomAD
rs959333317 CA152637658	116	R>C		No	ClinGen TOPMed gnomAD
CA366617144 rs1400912902	116	R>L		No	ClinGen TOPMed
CA366617154 rs1426584440	117	S>F		No	ClinGen TOPMed
CA4125161 rs780646611	117	S>P		No	ClinGen ExAC TOPMed gnomAD
CA366617161 rs1343197759	118	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA366617163 rs1343197759	118	D>Y		No	ClinGen gnomAD
rs931512806 CA152637716	119	S>G		No	ClinGen TOPMed gnomAD
rs369063429 CA366617193	120	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1263217631 CA366617197	120	R>P		No	ClinGen gnomAD
rs369063429 CA4125164	120	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA366617213 rs1343711655	122	Q>K		No	ClinGen gnomAD
rs944114487 CA366617238	124	V>L		No	ClinGen TOPMed gnomAD
CA152637734 rs944114487	124	V>M		No	ClinGen TOPMed gnomAD
rs918339689 CA152637739	126	E>A		No	ClinGen Ensembl
rs185762794 CA4125166	126	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4125167 rs774763606	127	D>N		No	ClinGen ExAC gnomAD
rs1448113625 CA366617292	128	A>S		No	ClinGen gnomAD
rs1392036902 CA366617314	130	G>R		No	ClinGen gnomAD
rs1242028538 CA366617331	131	N>S		No	ClinGen TOPMed
CA366617351 rs540304240	132	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773379562 CA366617339	132	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773379562 CA4125170	132	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA366617345 rs1459685125	132	E>V		No	ClinGen TOPMed gnomAD
rs765021612 CA4125172	133	G>S		No	ClinGen ExAC gnomAD
CA4125175 rs763850627	135	A>V		No	ClinGen ExAC TOPMed gnomAD
rs543979818 CA152637790	136	A>D		No	ClinGen gnomAD
rs543979818 CA366617422	136	A>V		No	ClinGen gnomAD
rs756860535 CA4125177	137	E>D		No	ClinGen ExAC TOPMed gnomAD
CA366617430 rs1319514497	137	E>K		No	ClinGen gnomAD
CA366617464 rs1273526168	138	A>G		No	ClinGen gnomAD
rs767034532 CA4125178	139	E>A		No	ClinGen ExAC TOPMed gnomAD
CA4125179 rs749876972	139	E>D		No	ClinGen ExAC gnomAD
CA366617468 rs1328238724	139	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1181331144 CA366617493	140	P>H		No	ClinGen TOPMed gnomAD
rs1181331144 CA366617495	140	P>R		No	ClinGen TOPMed gnomAD
CA4125180 rs376446348	140	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1014033972 CA152637812	141	R>Q		No	ClinGen TOPMed gnomAD
rs369761279 CA4125182	141	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA152637817 rs867728535	142	A>E		No	ClinGen gnomAD
TCGA novel	142	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1346281291 CA366617539	143	L>P		No	ClinGen TOPMed gnomAD
CA366617526 rs779383658	143	L>V		No	ClinGen ExAC TOPMed gnomAD
CA152637823 rs1014608839	144	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4125185 rs748406524	144	E>V		No	ClinGen ExAC
CA366617554 rs1301709305	145	N>D		No	ClinGen TOPMed gnomAD
CA366617566 rs1416180452	146	G>C		No	ClinGen TOPMed gnomAD
rs1293531713 CA366617573	146	G>D		No	ClinGen gnomAD
CA366617570 rs1416180452	146	G>S		No	ClinGen TOPMed gnomAD
CA366617593 rs1226332885	147	D>H		No	ClinGen TOPMed gnomAD
CA4125188 rs747128731	148	A>E		No	ClinGen ExAC TOPMed gnomAD
CA366617622 rs1269840349	148	A>S		No	ClinGen gnomAD
CA366617624 rs747128731	148	A>V		No	ClinGen ExAC TOPMed gnomAD
rs775335656 CA366617643	149	D>A		No	ClinGen ExAC TOPMed gnomAD
CA366617653 rs1188843816	149	D>E		No	ClinGen gnomAD
rs775335656 CA4125190	149	D>G		No	ClinGen ExAC TOPMed gnomAD
CA366617632 rs1254280986	149	D>N		No	ClinGen gnomAD
rs1251340528 CA366617654	150	E>K		No	ClinGen TOPMed gnomAD
rs1251340528 CA366617657	150	E>Q		No	ClinGen TOPMed gnomAD
CA4125191 rs545964398	151	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA152637873 rs191463396	151	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	152	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366617707 rs1189348544	152	S>F		No	ClinGen TOPMed
rs1433063533 CA366617700	152	S>T		No	ClinGen gnomAD
rs1436035971 CA366617758	153	F>C		No	ClinGen gnomAD
rs1034836301 CA366617769	153	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	154	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA152637921 rs1012154804	156	P>R		No	ClinGen Ensembl
CA4125194 rs761466793	156	P>S		No	ClinGen ExAC TOPMed gnomAD
rs369059870 CA4125195	157	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA152637936 rs944193199	158	D>G		No	ClinGen TOPMed
CA152637932 rs767015309	158	D>N		No	ClinGen TOPMed
CA152637949 rs972399078	161	D>E		No	ClinGen TOPMed
CA366617989 rs1211655858	162	D>E		No	ClinGen gnomAD
rs1219438889 CA366617975	162	D>G		No	ClinGen TOPMed gnomAD
CA366617972 rs1350032706	162	D>N		No	ClinGen TOPMed gnomAD
CA366617974 rs1350032706	162	D>Y		No	ClinGen TOPMed gnomAD
rs78680793 CA4125198 CA366618011	163	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755494844 CA4125200	165	E>G		No	ClinGen ExAC gnomAD
rs1233751415 CA366618060	165	E>K		No	ClinGen gnomAD
CA366618116 CA4125201 rs779435965	166	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1583152719 CA366606234	169	L>R		No	ClinGen Ensembl
rs745892776 CA4125228	169	L>V		No	ClinGen ExAC gnomAD
CA4125229 rs769858912	170	G>E		No	ClinGen ExAC TOPMed gnomAD
rs894520031 CA152590796	171	D>N		No	ClinGen TOPMed
CA152590800 rs1007949456	173	L>V		No	ClinGen TOPMed
CA4125232 rs201331895	176	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4125231 COSM1698323 rs748047621	176	R>W	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4125233 rs773012336	178	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1179766787 CA366606314	181	D>N		No	ClinGen gnomAD
rs58174334 CA366606369	183	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769911546 CA152590811	183	I>N		No	ClinGen Ensembl
CA4125235 rs770552909	184	D>Y		No	ClinGen ExAC gnomAD
rs776147143 CA4125236	185	S>L		No	ClinGen ExAC TOPMed gnomAD
rs201155310 CA4125239	186	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1339968722 CA366606428	188	V>I		No	ClinGen TOPMed gnomAD
CA152590823 rs746875139	190	D>G		No	ClinGen Ensembl
rs143426217 CA4125241	191	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147152815 CA4125246	194	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366606510 rs1315791605	194	Q>R		No	ClinGen TOPMed
CA152590897 rs764191350	196	G>A		No	ClinGen gnomAD
rs764191350 CA152590871	196	G>E		No	ClinGen gnomAD
rs748107158 CA4125248	197	P>A		No	ClinGen ExAC gnomAD
rs771989737 CA4125249	197	P>L		No	ClinGen ExAC gnomAD
CA4125251 rs746890634	198	D>N		No	ClinGen ExAC gnomAD
TCGA novel	199	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA152590936 rs563978553	204	K>E		No	ClinGen Ensembl
CA366606749 rs1361883951	207	I>F		No	ClinGen TOPMed gnomAD
CA366606748 rs1361883951	207	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	209	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366606806 rs1401507943	214	F>L		No	ClinGen gnomAD
rs776398952 CA4125253	216	K>N		No	ClinGen ExAC gnomAD
rs745482471 CA4125254	218	T>A		No	ClinGen ExAC gnomAD
rs769457046 CA4125255	219	N>D		No	ClinGen ExAC
TCGA novel	221	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366606856 rs1376270687	222	Y>H		No	ClinGen gnomAD
CA366606871 rs1583153185	224	E>A		No	ClinGen Ensembl
rs775088394 CA4125256	224	E>Q		No	ClinGen ExAC gnomAD
rs763565370 CA4125257	225	E>G		No	ClinGen ExAC gnomAD
CA152590973 rs922864560	226	D>N		No	ClinGen TOPMed gnomAD
rs1240300336 CA366606903	228	K>N		No	ClinGen gnomAD
CA366606900 rs1363256975	228	K>R		No	ClinGen TOPMed
rs934285697 CA152590991	230	K>E		No	ClinGen TOPMed gnomAD
CA366606921 rs1343563914	231	G>A		No	ClinGen gnomAD
CA4125295 rs778237987	232	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA152592911 rs778237987	232	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs748701494 CA4125296	236	E>D		No	ClinGen ExAC TOPMed gnomAD
rs535162743 CA152592923	238	A>G		No	ClinGen ExAC TOPMed gnomAD
rs561298082 CA152592922	238	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561298082 CA4125299	238	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535162743 CA4125300	238	A>V		No	ClinGen ExAC TOPMed gnomAD
rs759633167 CA4125302	240	P>A		No	ClinGen ExAC TOPMed gnomAD
CA366607225 rs759633167	240	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1388523311 CA366607238	242	H>Y		No	ClinGen gnomAD
CA366607245 rs752665303	243	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4125304 rs752665303	243	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4125305 rs150739455	243	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200218143 CA4125307	245	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1353237676 CA366607263	246	A>S		No	ClinGen gnomAD
rs779965692 CA4125309	246	A>V		No	ClinGen ExAC TOPMed gnomAD
CA366607268 rs1482849508	247	V>L		No	ClinGen TOPMed gnomAD
rs1482849508 CA366607266	247	V>M		No	ClinGen TOPMed gnomAD
CA152592966 rs369741313	248	K>N		No	ClinGen ESP
CA4125311 rs754528550	249	N>K		No	ClinGen ExAC TOPMed gnomAD
rs570068196 CA4125312	250	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	251	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281945249 CA366607292	251	D>Y		No	ClinGen TOPMed
CA4125315 rs200489277	252	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366607308 rs1476339335 COSM1736428	253	Y>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1426569353 CA366607316	254	K>R		No	ClinGen gnomAD
CA366607359 rs1411733663	260	T>A		No	ClinGen TOPMed gnomAD
CA4125320 rs769844132	262	R>Q		No	ClinGen ExAC gnomAD
rs373392664 CA4125319	262	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1029905119 CA152592997	263	V>L		No	ClinGen Ensembl
rs775778858 CA4125321	264	N>S		No	ClinGen ExAC gnomAD
rs763185237 CA4125322 COSM1088663	265	L>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs763185237 CA366607387	265	L>V		No	ClinGen ExAC gnomAD
rs764248115 CA4125323	266	F>C		No	ClinGen ExAC gnomAD
CA4125325 rs551734577	267	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551734577 CA4125324	267	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs912105440 CA152593053 COSM1088664	269	F>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs879262626 CA152593063	270	D>H		No	ClinGen gnomAD
CA366607561 rs1583157717	272	Y>H		No	ClinGen Ensembl
CA4125355 rs746365191	273	M>L		No	ClinGen ExAC gnomAD
CA366607574 rs746365191	273	M>V		No	ClinGen ExAC gnomAD
rs150027587 CA4125356	274	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs151282164 CA4125359	276	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1249808149 CA366607625	276	S>R		No	ClinGen TOPMed
rs151282164 CA4125360	276	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4125363 rs148785184	278	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4125362 rs148785184	278	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1312509335 CA366607679	280	D>G		No	ClinGen TOPMed
rs1269712171 CA366607675	280	D>Y		No	ClinGen gnomAD
rs759475355 CA4125364	281	I>M		No	ClinGen ExAC gnomAD
CA366607695 rs1360081985	281	I>T		No	ClinGen gnomAD
rs764959863 CA4125365	283	E>A		No	ClinGen ExAC gnomAD
CA366607708 rs1274083064	283	E>K		No	ClinGen TOPMed gnomAD
CA152593548 rs559451964	288	K>E		No	ClinGen 1000Genomes
CA4125366 rs775203648	288	K>R		No	ClinGen ExAC TOPMed gnomAD
rs749195609 CA4125403	292	N>D		No	ClinGen ExAC gnomAD
CA4125404 rs768472131	294	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1231082738 CA366608008	294	R>H		No	ClinGen TOPMed gnomAD
CA152594176 rs768472131	294	R>S		No	ClinGen ExAC TOPMed gnomAD
CA4125405 rs77981709	298	E>*		No	ClinGen ExAC gnomAD
CA4125406 rs761386350	298	E>V		No	ClinGen ExAC gnomAD
CA152594208 rs11551165	300	A>S		No	ClinGen Ensembl
rs1406553022 CA366608158	301	E>A		No	ClinGen TOPMed
rs771689313 CA4125407	302	C>R		No	ClinGen ExAC TOPMed gnomAD
CA366608249 rs1182527003	307	S>G		No	ClinGen TOPMed
CA152594215 rs201467063	307	S>T		No	ClinGen Ensembl
CA366608308 rs1583158947	311	E>D		No	ClinGen Ensembl
rs1175767282 CA366608312	312	S>G		No	ClinGen gnomAD
CA366608319 rs1583158960	312	S>R		No	ClinGen Ensembl
COSM3698340 CA4125408 rs772725989	315	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1329894 CA4125409 rs371362324	315	R>H	Variant assessed as Somatic; 4.623e-05 impact. ovary [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs765953961 CA4125410	318	I>M		No	ClinGen ExAC gnomAD
rs1017284863 CA152594224	318	I>V		No	ClinGen Ensembl
rs754426557 CA4125411	319	F>L		No	ClinGen ExAC gnomAD
CA152594226 rs866908503	319	F>S		No	ClinGen Ensembl
CA152594232 rs945733263	322	D>E		No	ClinGen TOPMed gnomAD
rs146798724 CA4125412	323	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA366608444 rs146798724	323	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4125413 rs140490524	325	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366608469 rs1282005010	325	D>G		No	ClinGen gnomAD
CA152594263 rs267601465	326	P>S		No	ClinGen Ensembl
rs1194983263 CA366608488	327	V>I		No	ClinGen gnomAD
rs374813967 CA4125416	328	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1252383152 CA366608516	329	I>T		No	ClinGen gnomAD
rs751711988 CA4125417	329	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4125418 rs757370973	333	A>E		No	ClinGen ExAC gnomAD
CA152594272 rs757370973	333	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA152595124 rs375551545	338	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs374521648 CA152595135	340	V>L		No	ClinGen Ensembl
CA152595138 rs368514580	341	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA4125446 rs368514580	341	R>G		No	ClinGen ESP ExAC gnomAD
CA366609856 rs1296455398	341	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4125447 rs770639032	343	S>F		No	ClinGen ExAC gnomAD
rs1485578081 CA366609945	344	P>A		No	ClinGen gnomAD
rs991641840 CA152595147	344	P>H		No	ClinGen TOPMed gnomAD
rs991641840 CA366609950	344	P>L		No	ClinGen TOPMed gnomAD
rs916964823 CA152595153	345	K>E		No	ClinGen TOPMed
rs769410248 CA4125450	347	T>I		No	ClinGen ExAC gnomAD
CA4125449 rs745425816	347	T>P		No	ClinGen ExAC gnomAD
CA366610096 rs776107723	348	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4125451 rs776107723	348	Y>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	349	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416183812 CA366610157	350	A>S		No	ClinGen gnomAD
rs374173451 CA366610274	354	Q>H		No	ClinGen ESP ExAC gnomAD
rs764542868 CA4125453	354	Q>R		No	ClinGen ExAC gnomAD
rs762029255 CA4125455	357	I>V		No	ClinGen ExAC gnomAD
CA4125457 rs750621099	359	L>Q		No	ClinGen ExAC gnomAD
rs767795115 CA4125456	359	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4125460 rs766329360	360	W>C		No	ClinGen ExAC gnomAD
COSM1622717 rs760782462 CA4125459	360	W>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs752702368 CA4125461	361	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	363	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764010445	363	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	365	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751464783 CA4125464	366	K>N		No	ClinGen ExAC gnomAD
rs1396683488 CA366610613	367	Q>R		No	ClinGen Ensembl
rs757102227 CA4125465	368	I>M		No	ClinGen ExAC gnomAD
TCGA novel	369	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4125466 rs781043626	375	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1255777026 CA366610836	375	G>R		No	ClinGen gnomAD
CA366610919 rs1417901454	377	Q>H		No	ClinGen TOPMed gnomAD
rs1309943144 CA366610963	379	I>T		No	ClinGen TOPMed gnomAD
rs749815958 CA4125470	381	F>L		No	ClinGen ExAC gnomAD
CA366611025 rs1562480719	381	F>L		No	ClinGen Ensembl
rs1355810860 CA366611097	383	P>H		No	ClinGen TOPMed gnomAD
rs1355810860 CA366611081	383	P>L		No	ClinGen TOPMed gnomAD
rs768978316 CA4125471	385	E>D		No	ClinGen ExAC
CA366611197 rs1419872225	386	R>T		No	ClinGen gnomAD
CA4125491 rs779435465	387	Y>C		No	ClinGen ExAC gnomAD
rs768201055 CA4125490	387	Y>H		No	ClinGen ExAC gnomAD
CA366612276 rs1250632040	389	V>M		No	ClinGen gnomAD
CA366612294 rs1191425324	390	T>N		No	ClinGen gnomAD
CA4125494 rs773507723	393	P>T		No	ClinGen ExAC gnomAD
rs760953443 CA4125495	394	L>P		No	ClinGen ExAC gnomAD
rs771120755 CA4125496	395	M>R		No	ClinGen ExAC gnomAD
rs371006035 CA4125497	397	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs765332786 CA4125499	399	D>G		No	ClinGen ExAC gnomAD
rs1288508629 CA366612409	400	D>H		No	ClinGen gnomAD
CA4125500 rs774464816	401	P>S		No	ClinGen ExAC TOPMed gnomAD
CA366612434 rs1162976053	402	Q>K		No	ClinGen gnomAD
rs199814936 CA4125502	405	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366612509 rs1414980832	407	W>C		No	ClinGen gnomAD
CA366612543 rs755933619	409	I>M		No	ClinGen ExAC TOPMed gnomAD
rs376326730 CA4125506	411	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1424105911 CA366612609	414	K>N		No	ClinGen gnomAD
rs1195510412 CA366612604	414	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	419	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772585084 CA152597749	421	E>G		No	ClinGen TOPMed
rs758834764 CA4125510	422	S>T		No	ClinGen ExAC gnomAD
CA152597766 rs11551171	423	S>L		No	ClinGen Ensembl
rs1405998803 CA366612798	423	S>P		No	ClinGen gnomAD
TCGA novel	424	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778245646 CA4125511	428	I>V		No	ClinGen ExAC gnomAD
CA152597807 rs530108384	430	K>R		No	ClinGen 1000Genomes TOPMed
rs749437686 CA4125536	433	H>R		No	ClinGen ExAC gnomAD
rs768835970 CA4125537	434	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1283380458 CA366613130	438	F>V		No	ClinGen gnomAD
CA4125539 rs760611208	442	T>I		No	ClinGen ExAC gnomAD
CA4125541 rs549332269	445	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1241777458 CA366613276	446	L>V		No	ClinGen gnomAD
rs759321115 CA4125542	448	I>T		No	ClinGen ExAC gnomAD
rs1562482971 CA366613373	451	T>I		No	ClinGen Ensembl
rs1238394790 CA366613527	454	M>V		No	ClinGen TOPMed gnomAD
CA4125570 rs750944695	458	D>N		No	ClinGen ExAC gnomAD
CA4125571 rs756587806	464	I>T		No	ClinGen ExAC gnomAD
rs1378498176 CA366613774	465	S>C		No	ClinGen gnomAD
rs138033670 CA4125573	467	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA366614862 rs1224558250	469	D>E		No	ClinGen TOPMed
CA4125602 rs768314023	471	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA366614937 rs1290347562	474	P>S		No	ClinGen TOPMed
rs1188968633 CA366614959	475	G>D		No	ClinGen TOPMed gnomAD
CA366614961 rs1188968633	475	G>V		No	ClinGen TOPMed gnomAD
CA366614976 rs1308942507	478	I>L		No	ClinGen TOPMed
CA366614987 rs1583169222	479	I>T		No	ClinGen Ensembl
rs772779770 CA4125606	480	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	483	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302074598 CA366615039	486	D>E		No	ClinGen gnomAD
rs1420061915 CA366615032	486	D>N		No	ClinGen gnomAD
CA366615092 rs1238150321	494	T>I		No	ClinGen gnomAD
rs1407220855 CA366615099	496	M>L		No	ClinGen TOPMed
CA152601446 rs1045448378	496	M>T		No	ClinGen TOPMed
CA366615108 rs1583169323	497	Q>E		No	ClinGen Ensembl
rs777255192 CA4125609	500	T>N		No	ClinGen ExAC gnomAD
rs765474642 CA366615134	501	R>K		No	ClinGen ExAC gnomAD
rs765474642 CA4125611	501	R>T		No	ClinGen ExAC gnomAD
TCGA novel	502	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366615139 rs1484484426	502	Q>E		No	ClinGen gnomAD
CA366615234 rs1250507536	507	R>S		No	ClinGen gnomAD
TCGA novel	509	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758489172 CA4125613	511	N>S		No	ClinGen ExAC TOPMed gnomAD
rs377056966 CA4125615	516	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs757319830 CA4125616	518	H>R		No	ClinGen ExAC TOPMed gnomAD
rs753688567 CA4125618	521	K>N		No	ClinGen ExAC gnomAD
CA366615590 rs1490479491	522	N>S		No	ClinGen TOPMed
rs1444624813 CA366615763	526	L>S		No	ClinGen gnomAD
CA4125620 rs778526216	531	D>N		No	ClinGen ExAC gnomAD
rs747838544 CA4125621	534	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1562487394 CA366618055	539	G>A		No	ClinGen Ensembl
CA366618061 rs768977466	540	V>F		No	ClinGen ExAC gnomAD
rs768977466 CA4125654	540	V>I		No	ClinGen ExAC gnomAD
CA366618085 rs1468032837	541	V>L		No	ClinGen TOPMed
rs1271181894 CA366618105	542	T>A		No	ClinGen TOPMed
rs1215830906 CA366618186	544	F>S		No	ClinGen TOPMed
TCGA novel	545	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	548	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA152603932 rs973008044	559	V>I		No	ClinGen TOPMed
CA366618639 rs1356325091	561	M>I		No	ClinGen gnomAD
rs771396373 CA152604898	563	E>D		No	ClinGen Ensembl
CA4125682 rs757106450	564	T>I		No	ClinGen ExAC TOPMed gnomAD
rs757106450 CA366619652	564	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4125685 rs755611163	565	I>M		No	ClinGen ExAC gnomAD
CA4125684 rs764702745	565	I>V		No	ClinGen ExAC gnomAD
rs752684831 CA152604928	569	A>V		No	ClinGen Ensembl
TCGA novel	574	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366619906 rs749812490	576	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4125687 rs749812490	576	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1441807927 CA366619933	577	F>C		No	ClinGen gnomAD
CA152604939 rs867970557	577	F>L		No	ClinGen Ensembl
rs61742731 CA4125694	581	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773333243 CA4125692	581	H>Y		No	ClinGen ExAC gnomAD
CA366620044 CA152604962 rs144505700	582	G>R		No	ClinGen ESP TOPMed gnomAD
CA366620100 rs776784371	584	A>P		No	ClinGen ExAC gnomAD
CA4125695 rs776784371	584	A>S		No	ClinGen ExAC gnomAD
TCGA novel	585	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344033351 CA366620149	586	R>Q		No	ClinGen gnomAD
rs531111348 CA4125697	586	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4125699 rs761740699	587	I>V		No	ClinGen ExAC gnomAD
CA4125701 rs750069365	589	V>L		No	ClinGen ExAC gnomAD
rs150678614 CA4125703	592	Y>C		No	ClinGen ESP ExAC TOPMed
CA366620292 rs1182782020	592	Y>H		No	ClinGen gnomAD
rs1377350348 CA366620330	593	H>R		No	ClinGen gnomAD
CA366620349 rs1174725049	594	V>I		No	ClinGen gnomAD
rs1583174347 CA366620423	596	N>S		No	ClinGen Ensembl
rs1465569018 CA366620543	600	I>M		No	ClinGen TOPMed gnomAD
CA366620553 rs1330025270	601	E>Q		No	ClinGen gnomAD
CA366620616 rs1237630615	603	I>T		No	ClinGen TOPMed
CA4125707 rs753158948 COSM1205120	604	K>E	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1387455397 CA366621506	605	M>T		No	ClinGen TOPMed
CA366621503 rs1367393702	605	M>V		No	ClinGen gnomAD
CA152610909 rs912694700	606	F>L		No	ClinGen TOPMed gnomAD
CA4125737 rs772118277	607	D>N		No	ClinGen ExAC gnomAD
rs773011897 CA4125738	611	A>V		No	ClinGen ExAC gnomAD
CA366621558 rs1361903766	612	N>S		No	ClinGen TOPMed
CA4125739 rs760556072	613	T>A		No	ClinGen ExAC gnomAD
CA366621644 rs776284204	617	S>R		No	ClinGen ExAC gnomAD
rs759126862 CA4125742	619	Q>R		No	ClinGen ExAC gnomAD
CA366621875 rs1214857231	626	A>V		No	ClinGen gnomAD
CA366622091 rs1253796409	631	M>T		No	ClinGen TOPMed gnomAD
CA4125785 rs773835538	632	N>S		No	ClinGen ExAC gnomAD
COSM266453 CA4125787 rs766601514	633	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1422875805 CA366622130	634	A>G		No	ClinGen gnomAD
rs754100862 CA4125788	634	A>T		No	ClinGen ExAC gnomAD
CA366622145 rs1464106865	636	A>T		No	ClinGen gnomAD
CA4125789 rs759606657	636	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1264951291 CA366622175	638	V>L		No	ClinGen TOPMed
CA366622204 rs1292089661	640	T>S		No	ClinGen TOPMed gnomAD
rs76153980 CA4125792	641	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs76153980 CA366622216	641	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA152612000 rs181409131	644	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM178363 rs181409131 CA4125794	644	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs181409131 CA366622259	644	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366622265 rs1444966876	645	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1212256812 CA366622277	646	M>L		No	ClinGen TOPMed gnomAD
rs1387296838 CA366622279	646	M>T		No	ClinGen TOPMed
rs1212256812 CA366622276	646	M>V		No	ClinGen TOPMed gnomAD
CA366622298 rs1274510900	647	N>I		No	ClinGen TOPMed gnomAD
rs748975334 CA4125797	648	I>V		No	ClinGen ExAC gnomAD
CA4125799 rs778618845	649	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA152612091 rs962331607	653	M>V		No	ClinGen TOPMed
CA152612116 rs1028013325	656	D>N		No	ClinGen TOPMed
rs139537965 CA4125803	657	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4125805 rs776923545	658	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1162940545 CA366622421	658	E>V		No	ClinGen gnomAD
CA366622484 rs1367743504 COSM1205119	664	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4125807 rs370274071	666	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1433522894 CA366622516	667	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA366622528 rs1583179313	668	T>P		No	ClinGen Ensembl
TCGA novel	671	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1227280036 CA366622590	673	W>G		No	ClinGen gnomAD
rs1312430252 CA366622623	675	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1361173055 CA366622638	676	K>E		No	ClinGen gnomAD
CA152614011 rs981973735	677	V>L		No	ClinGen TOPMed
CA366623334 rs777551343	680	A>G		No	ClinGen ExAC TOPMed gnomAD
rs758187488 CA4125836	680	A>T		No	ClinGen ExAC gnomAD
CA4125837 rs777551343	680	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	682	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1583181697 CA366623376	682	W>S		No	ClinGen Ensembl
rs746336469 CA4125841	684	W>G		No	ClinGen ExAC gnomAD
CA152614061 rs201207559	685	T>A		No	ClinGen Ensembl
rs1344147935 CA366623431	685	T>S		No	ClinGen gnomAD
CA4125844 rs749650814	689	R>C		No	ClinGen ExAC gnomAD
rs774537093 CA4125846	690	L>P		No	ClinGen ExAC gnomAD
CA366623543 rs1435932274	693	K>N		No	ClinGen TOPMed
rs761842037 CA4125847	693	K>R		No	ClinGen ExAC gnomAD
CA366623560 rs1246499236	694	N>K		No	ClinGen gnomAD
rs1583181826 CA366623601	697	D>A		No	ClinGen Ensembl
CA366623616 rs1257931642	698	R>C		No	ClinGen TOPMed
rs1211527019 CA366623617	698	R>H		No	ClinGen TOPMed
rs1562491960 CA366623706	705	R>W		No	ClinGen Ensembl
CA4125850 rs759448511	706	P>A		No	ClinGen ExAC TOPMed gnomAD
CA366623723 rs1350744799	706	P>L		No	ClinGen TOPMed
CA366623716 rs759448511	706	P>S		No	ClinGen ExAC TOPMed gnomAD
CA366623732 rs1583181912	707	R>P		No	ClinGen Ensembl
rs765257628 CA4125851	707	R>W		No	ClinGen ExAC gnomAD
rs1411313858 CA366623743	708	P>H		No	ClinGen TOPMed gnomAD
rs1411313858 CA366623741	708	P>R		No	ClinGen TOPMed gnomAD
rs149974474 CA4125854	709	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4125853 rs149974474	709	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1583181948 CA366623754	710	T>P		No	ClinGen Ensembl
CA366623758 rs1402917335	710	T>R		No	ClinGen TOPMed gnomAD
rs1346094497 CA366623764	711	L>H		No	ClinGen gnomAD
CA366623770 rs1583181995	712	L>P		No	ClinGen Ensembl
CA4125860 rs756683173	713	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4125859 rs756683173	713	S>T		No	ClinGen ExAC TOPMed gnomAD
rs749705803 CA4125861	714	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	714	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351296071 CA366623812	716	Q>E		No	ClinGen gnomAD
CA366623834 rs1289514448	717	I>N		No	ClinGen gnomAD
rs1182820982 CA366625013	719	Q>E		No	ClinGen TOPMed
TCGA novel	719	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1269950726 CA366625039	720	I>T		No	ClinGen TOPMed
rs1459811692 CA366625032	720	I>V		No	ClinGen TOPMed
rs1353402683 CA366625075	722	K>N		No	ClinGen TOPMed gnomAD
CA4125897 rs779270785	726	K>Q		No	ClinGen ExAC gnomAD
rs1241997159 CA366625159	729	K>Q		No	ClinGen gnomAD
CA152616820 rs753122413	730	I>F		No	ClinGen Ensembl
rs1459633460 CA366625187	730	I>M		No	ClinGen gnomAD
CA152616836 rs1053681761	733	Q>K		No	ClinGen Ensembl
rs1243416838 CA366625245	734	K>N		No	ClinGen gnomAD
rs1418263620 COSM1450090 CA366625264	736	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4125899 rs758656120	736	R>H		No	ClinGen ExAC gnomAD
CA366625325 rs1365425855	740	S>C		No	ClinGen gnomAD
CA4125900 rs778085611	741	K>Q		No	ClinGen ExAC gnomAD
rs1387256170 CA366625335	741	K>T		No	ClinGen gnomAD
rs1403998405 CA366625372	744	K>E		No	ClinGen gnomAD
rs747989107 CA4125926	751	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1450091 rs375864470 CA4125927	751	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs772928713 CA4125928	752	T>I		No	ClinGen ExAC gnomAD
rs746790542 CA4125930	754	M>L		No	ClinGen ExAC gnomAD
rs746790542 CA4125929	754	M>V		No	ClinGen ExAC gnomAD
TCGA novel	756	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4125933 rs373039793	758	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs759115078 CA366625729	758	R>W		No	ClinGen ExAC TOPMed gnomAD
CA366625766 rs1367932649	759	K>Q		No	ClinGen gnomAD
rs768402273 CA4125937	761	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4125936 rs768402273	761	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1288864122 CA366625817	761	R>W		No	ClinGen gnomAD
CA152617399 rs202106605	764	A>V		No	ClinGen gnomAD
CA366625912 rs1271094192	765	Q>*		No	ClinGen TOPMed
CA366625932 rs1244892554	765	Q>H		No	ClinGen gnomAD
rs1223124168 CA366625967	768	Y>S		No	ClinGen gnomAD
CA366626010 rs1241483705	770	E>Q		No	ClinGen gnomAD
rs1490262821 CA366626020	770	E>V		No	ClinGen TOPMed
CA366626092 rs756242706	773	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1484919911 CA366626079	773	N>Y		No	ClinGen gnomAD
rs150993211 CA4125942	774	E>K		No	ClinGen ESP ExAC gnomAD
CA366626101 rs150993211	774	E>Q		No	ClinGen ESP ExAC gnomAD
rs921250675 CA152617438	775	R>H		No	ClinGen TOPMed
CA366626163 rs1161995207	777	E>K		No	ClinGen gnomAD
rs758339172 CA366626226	779	R>P		No	ClinGen ExAC gnomAD
CA4125944 COSM1251081 rs758339172	779	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1344841746 CA366626449	782	V>A		No	ClinGen gnomAD
CA4125970 rs141884022	786	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA152617910 rs373945753	786	E>V		No	ClinGen Ensembl
CA152617912 rs367843382	788	D>A		No	ClinGen Ensembl
TCGA novel	788	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs970395745 CA152617914	789	S>G		No	ClinGen Ensembl
rs1195442825 CA366626605	789	S>N		No	ClinGen gnomAD
rs980494734 CA152617927	790	N>S		No	ClinGen Ensembl
rs768241779 CA4125972	791	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1446248317 CA366626688	792	D>G		No	ClinGen TOPMed
CA152617942 rs1063257 VAR_047973	793	D>E		No	ClinGen UniProt Ensembl dbSNP
rs867485485 CA366626704	793	D>N		No	ClinGen gnomAD
CA152617941 rs867485485	793	D>Y		No	ClinGen gnomAD
rs1479744250 CA366626837	797	E>D		No	ClinGen gnomAD
rs1166937303 CA366626958	803	V>F		No	ClinGen gnomAD
rs1166937303 CA366626954	803	V>I		No	ClinGen gnomAD
rs773519251 CA4125976	804	T>A		No	ClinGen ExAC gnomAD
rs761091640 CA4125977	804	T>I		No	ClinGen ExAC TOPMed gnomAD
rs866457149 CA152617966	805	E>*		No	ClinGen gnomAD
CA366626969 rs866457149	805	E>K		No	ClinGen gnomAD
rs1364827221 CA366626990	807	I>M		No	ClinGen gnomAD
rs1304955888 CA366626998	808	I>T		No	ClinGen gnomAD
rs1403016435 CA366626992	808	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4125978 rs766546329	809	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	809	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366627014 rs1226844384	810	L>F		No	ClinGen gnomAD
rs1341769799 CA366627021	811	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1291519010 CA366627055	813	Q>R		No	ClinGen gnomAD
CA366627069 rs776869255	814	E>G		No	ClinGen ExAC gnomAD
CA152617968 rs372896684	814	E>K		No	ClinGen TOPMed gnomAD
CA4125979 rs776869255	814	E>V		No	ClinGen ExAC gnomAD

No associated diseases with P55884

3 regional properties for P55884

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	185 - 268	IPR000504
domain	Translation initiation factor, beta propellor-like domain	507 - 702	IPR013979
domain	eIF3B, RNA recognition motif	184 - 264	IPR034363

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, Stress granule	Localizes to stress granules following cellular stress
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cytoplasmic stress granule	A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
eukaryotic 43S preinitiation complex	A protein complex composed of the 40S ribosomal subunit plus eIF1A, eIF3, and eIF2-GTP-bound methionyl-initiator methionine tRNA.
eukaryotic 48S preinitiation complex	A protein complex composed of the small ribosomal subunit, eIF3, eIF1A, methionyl-initiatior methionine and a capped mRNA. The complex is initially positioned at the 5'-end of the capped mRNA.
eukaryotic translation initiation factor 3 complex	A complex of several polypeptides that plays at least two important roles in protein synthesis: First, eIF3 binds to the 40S ribosome and facilitates loading of the Met-tRNA/eIF2.GTP ternary complex to form the 43S preinitiation complex. Subsequently, eIF3 apparently assists eIF4 in recruiting mRNAs to the 43S complex. The eIF3 complex contains five conserved core subunits, and may contain several additional proteins; the non-core subunits are thought to mediate association of the complex with specific sets of mRNAs.
eukaryotic translation initiation factor 3 complex, eIF3m	An eukaryotic translation initiation factor 3 complex that contains the PCI-domain protein eIF3m.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

4 GO annotations of molecular function

Name	Definition
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.
RNA binding	Binding to an RNA molecule or a portion thereof.
translation initiation factor activity	Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide.
translation initiation factor binding	Binding to a translation initiation factor, any polypeptide factor involved in the initiation of ribosome-mediated translation.

5 GO annotations of biological process

Name	Definition
formation of cytoplasmic translation initiation complex	Joining of the large subunit, with release of IF2/eIF2 and IF3/eIF3. This leaves the functional ribosome at the AUG, with the methionyl/formyl-methionyl-tRNA positioned at the P site.
IRES-dependent viral translational initiation	Process by which viral mRNA translation is initiated, where a domain in the 5' untranslated region (UTR) of the viral mRNA called an internal ribosome entry site (IRES) binds the host 43S preinitiation complex, circumventing regular cap-dependent translation initiation.
regulation of translational initiation	Any process that modulates the frequency, rate or extent of translational initiation.
translational initiation	The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA.
viral translational termination-reinitiation	A process which occurs as part of viral mRNA translation which allows expression of a downstream open reading frame (ORF) in a dicistronic mRNA. In this process, ribosomes translate the upstream ORF but following termination, a proportion of 40S subunits remain tethered to the mRNA and go on to re-initiate translation at the start codon of the downstream ORF.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A7MB16	EIF3B	Eukaryotic translation initiation factor 3 subunit B	Bos taurus (Bovine)	PR
Q8JZQ9	Eif3b	Eukaryotic translation initiation factor 3 subunit B	Mus musculus (Mouse)	PR
Q4G061	Eif3b	Eukaryotic translation initiation factor 3 subunit B	Rattus norvegicus (Rat)	PR
Q9XWI6	eif-3.B	Eukaryotic translation initiation factor 3 subunit B	Caenorhabditis elegans	PR

10	20	30	40	50	60
MQDAENVAVP	EAAEERAEPG	QQQPAAEPPP	AEGLLRPAGP	GAPEAAGTEA	SSEEVGIAEA
70	80	90	100	110	120
GPESEVRTEP	AAEAEAASGP	SESPSPPAAE	ELPGSHAEPP	VPAQGEAPGE	QARDERSDSR
130	140	150	160	170	180
AQAVSEDAGG	NEGRAAEAEP	RALENGDADE	PSFSDPEDFV	DDVSEEELLG	DVLKDRPQEA
190	200	210	220	230	240
DGIDSVIVVD	NVPQVGPDRL	EKLKNVIHKI	FSKFGKITND	FYPEEDGKTK	GYIFLEYASP
250	260	270	280	290	300
AHAVDAVKNA	DGYKLDKQHT	FRVNLFTDFD	KYMTISDEWD	IPEKQPFKDL	GNLRYWLEEA
310	320	330	340	350	360
ECRDQYSVIF	ESGDRTSIFW	NDVKDPVSIE	ERARWTETYV	RWSPKGTYLA	TFHQRGIALW
370	380	390	400	410	420
GGEKFKQIQR	FSHQGVQLID	FSPCERYLVT	FSPLMDTQDD	PQAIIIWDIL	TGHKKRGFHC
430	440	450	460	470	480
ESSAHWPIFK	WSHDGKFFAR	MTLDTLSIYE	TPSMGLLDKK	SLKISGIKDF	SWSPGGNIIA
490	500	510	520	530	540
FWVPEDKDIP	ARVTLMQLPT	RQEIRVRNLF	NVVDCKLHWQ	KNGDYLCVKV	DRTPKGTQGV
550	560	570	580	590	600
VTNFEIFRMR	EKQVPVDVVE	MKETIIAFAW	EPNGSKFAVL	HGEAPRISVS	FYHVKNNGKI
610	620	630	640	650	660
ELIKMFDKQQ	ANTIFWSPQG	QFVVLAGLRS	MNGALAFVDT	SDCTVMNIAE	HYMASDVEWD
670	680	690	700	710	720
PTGRYVVTSV	SWWSHKVDNA	YWLWTFQGRL	LQKNNKDRFC	QLLWRPRPPT	LLSQEQIKQI
730	740	750	760	770	780
KKDLKKYSKI	FEQKDRLSQS	KASKELVERR	RTMMEDFRKY	RKMAQELYME	QKNERLELRG
790	800	810
GVDTDELDSN	VDDWEEETIE	FFVTEEIIPL	GNQE