AiPD: Autoinhibited Protein Database

Q13200

Gene name	PSMD2 (TRAP2)
Protein name	26S proteasome non-ATPase regulatory subunit 2
Names	26S proteasome regulatory subunit RPN1, 26S proteasome regulatory subunit S2, 26S proteasome subunit p97, Protein 55.11, Tumor necrosis factor type 1 receptor-associated protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5708
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (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

59 structures for Q13200

Entry ID	Method	Resolution	Chain	Position	Source
5GJQ	EM	450 A	Z	1-908	PDB
5GJR	EM	350 A	AC/Z	1-908	PDB
5L4K	EM	450 A	Z	1-908	PDB
5LN3	EM	680 A	Z	1-908	PDB
5T0C	EM	380 A	Af/Bf	1-908	PDB
5T0G	EM	440 A	f	164-908	PDB
5T0H	EM	680 A	f	164-908	PDB
5T0I	EM	800 A	f	164-908	PDB
5T0J	EM	800 A	f	164-908	PDB
5VFP	EM	420 A	f	1-908	PDB
5VFQ	EM	420 A	f	1-908	PDB
5VFR	EM	490 A	f	1-908	PDB
5VFS	EM	360 A	f	6-853	PDB
5VFT	EM	700 A	f	1-908	PDB
5VFU	EM	580 A	f	1-908	PDB
5VHF	EM	570 A	f	6-853	PDB
5VHH	EM	610 A	f	6-853	PDB
5VHI	EM	680 A	f	6-853	PDB
5VHJ	EM	850 A	f	70-853	PDB
5VHM	EM	830 A	f	6-853	PDB
5VHN	EM	730 A	f	6-853	PDB
5VHO	EM	830 A	f	6-853	PDB
5VHP	EM	790 A	f	70-853	PDB
5VHQ	EM	890 A	f	6-853	PDB
5VHR	EM	770 A	f	6-853	PDB
5VHS	EM	880 A	f	70-853	PDB
6MSB	EM	300 A	f	1-908	PDB
6MSD	EM	320 A	f	1-908	PDB
6MSG	EM	350 A	f	1-892	PDB
6MSH	EM	360 A	f	1-892	PDB
6MSJ	EM	330 A	f	1-892	PDB
6MSK	EM	320 A	f	1-892	PDB
6WJD	EM	480 A	f	1-908	PDB
6WJN	EM	570 A	f	1-908	PDB
7QXN	EM	370 A	f	1-908	PDB
7QXP	EM	360 A	f	1-908	PDB
7QXU	EM	430 A	f	1-908	PDB
7QXW	EM	410 A	f	1-908	PDB
7QXX	EM	440 A	f	1-908	PDB
7QY7	EM	470 A	f	1-908	PDB
7QYA	EM	480 A	f	1-908	PDB
7QYB	EM	410 A	f	1-908	PDB
7UIH	EM	310 A	A	260-903	PDB
7UJD	EM	250 A	A	260-903	PDB
7W37	EM	300 A	f	1-908	PDB
7W38	EM	310 A	f	1-908	PDB
7W39	EM	320 A	f	1-908	PDB
7W3A	EM	350 A	f	1-908	PDB
7W3B	EM	360 A	f	1-908	PDB
7W3C	EM	340 A	f	1-908	PDB
7W3F	EM	330 A	f	1-908	PDB
7W3G	EM	320 A	f	1-908	PDB
7W3H	EM	320 A	f	1-908	PDB
7W3I	EM	350 A	f	1-908	PDB
7W3J	EM	350 A	f	1-908	PDB
7W3K	EM	360 A	f	1-908	PDB
7W3M	EM	350 A	f	1-908	PDB
8CVT	EM	300 A	f	1-908	PDB
AF-Q13200-F1	Predicted				AlphaFoldDB

534 variants for Q13200

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1321912876 CA355431007	2	E>G		No	ClinGen TOPMed gnomAD
rs1439760850 CA355431044	4	G>A		No	ClinGen gnomAD
CA355431040 rs1368125332	4	G>R		No	ClinGen gnomAD
CA88880498 rs995135642	5	G>S		No	ClinGen TOPMed gnomAD
rs987160008 CA88880502	6	R>Q		No	ClinGen Ensembl
CA88880499 rs967300698	6	R>W		No	ClinGen TOPMed gnomAD
rs182086670 CA2730971	7	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1027646726 CA88880509	7	D>Y		No	ClinGen TOPMed
CA355431101 rs1330373298	8	K>E		No	ClinGen TOPMed gnomAD
rs1288082425 CA355431107	8	K>R		No	ClinGen TOPMed
rs1161714285 CA355431129	9	A>G		No	ClinGen TOPMed
CA88880525 rs975275652	9	A>P		No	ClinGen TOPMed gnomAD
rs1161714285 CA355431131	9	A>V		No	ClinGen TOPMed
CA355431144 rs1271399136	10	P>L		No	ClinGen gnomAD
rs1577154180 CA355431140	10	P>S		No	ClinGen Ensembl
CA88880530 rs749122931	13	P>A		No	ClinGen gnomAD
CA355431202 rs1190989842	13	P>L		No	ClinGen TOPMed
CA355431194 rs749122931	13	P>S		No	ClinGen gnomAD
rs775866930 CA2730973	16	S>F		No	ClinGen ExAC TOPMed
CA355431265 rs1248659202	18	A>V		No	ClinGen gnomAD
rs764580797 CA2730975	20	A>G		No	ClinGen ExAC gnomAD
rs1488587348 CA355431315	21	P>R		No	ClinGen TOPMed
CA88880560 rs974940898	25	D>Y		No	ClinGen TOPMed
CA355431397 rs1203475854	26	E>G		No	ClinGen TOPMed gnomAD
CA88880575 rs1046699477	27	K>E		No	ClinGen TOPMed gnomAD
CA355431453 rs1305715113	29	S>G		No	ClinGen TOPMed
rs1161247727 CA355431466	29	S>R		No	ClinGen TOPMed gnomAD
CA355431502 rs1391738056	31	K>R		No	ClinGen gnomAD
rs17524338 CA355431535	33	R>G		No	ClinGen TOPMed gnomAD
rs949655355 CA355431546	33	R>L		No	ClinGen TOPMed
CA88880590 rs949655355	33	R>Q		No	ClinGen TOPMed
rs17524338 CA88880585	33	R>W		No	ClinGen TOPMed gnomAD
CA88880591 rs548375988	35	D>E		No	ClinGen Ensembl
CA2730976 rs200274075	39	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA88880622 rs905447773	40	D>N		No	ClinGen TOPMed gnomAD
rs535724648 CA2730977	42	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355431691 rs1442312877	43	Q>E		No	ClinGen gnomAD
CA88880628 rs1130488	43	Q>L		No	ClinGen Ensembl
CA355431729 rs1351460981	44	E>D		No	ClinGen gnomAD
CA355431906 rs1356190700	48	E>Q		No	ClinGen TOPMed
rs1206952258 CA355431946	49	D>E		No	ClinGen gnomAD
CA355431968 rs1326847050	50	K>R		No	ClinGen TOPMed
rs1237970940 CA355431989	51	Q>E		No	ClinGen Ensembl
rs775642103 CA2730991	52	L>F		No	ClinGen ExAC gnomAD
CA355432075 rs1441720208	55	E>K		No	ClinGen gnomAD
rs1429660453 CA355432118	58	M>L		No	ClinGen TOPMed
rs747364667 CA2730992	59	L>V		No	ClinGen ExAC gnomAD
rs777094564 CA2730994	60	V>L		No	ClinGen ExAC gnomAD
rs762271069 CA355432189	63	L>I		No	ClinGen ExAC TOPMed gnomAD
rs376597661 CA2730996	64	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA355432771 rs1172961641	68	T>S		No	ClinGen TOPMed
rs956561285 CA355432790	69	S>F		No	ClinGen TOPMed
rs956561285 CA88881323	69	S>Y		No	ClinGen TOPMed
rs760456709 CA2731024	70	L>Q		No	ClinGen ExAC gnomAD
rs1577154880 CA355432809	71	Y>C		No	ClinGen Ensembl
rs1577154885 CA355432816 COSM3695947	72	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2731026 rs753772505 COSM3331073	72	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA355432825 rs1472581664	73	P>T		No	ClinGen gnomAD
CA2731028 rs370141233	74	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2731029 rs751664178	74	A>V		No	ClinGen ExAC gnomAD
rs1387166632 CA355432856	75	L>R		No	ClinGen gnomAD
rs1325224898 CA355432862	76	E>A		No	ClinGen gnomAD
rs1553842003 CA355432882	77	E>G		No	ClinGen Ensembl
CA2731034 rs778312103	81	Q>H		No	ClinGen ExAC gnomAD
rs556821583 CA88881346	81	Q>K		No	ClinGen 1000Genomes
rs749719125 CA2731035	83	R>H		No	ClinGen ExAC TOPMed gnomAD
rs771489110 CA2731036	84	S>F		No	ClinGen ExAC gnomAD
CA355432995 rs1560193304	87	T>A		No	ClinGen Ensembl
CA355432994 rs1560193304	87	T>P		No	ClinGen Ensembl
rs1248906892 CA355433093	95	P>R		No	ClinGen gnomAD
rs775342154 CA355433141	99	L>M		No	ClinGen ExAC TOPMed gnomAD
CA355433151 rs1474268582	100	R>C		No	ClinGen gnomAD
COSM1042007 rs952433532 CA88881374	100	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1459685030 CA355433167	101	P>R		No	ClinGen gnomAD
rs760497021 CA2731041	101	P>S		No	ClinGen ExAC TOPMed gnomAD
CA355433172 rs763837991	102	H>N		No	ClinGen ExAC TOPMed gnomAD
CA2731043 rs776524874	102	H>R		No	ClinGen ExAC gnomAD
CA2731042 rs763837991	102	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1408932877 CA355433192	103	Y>C		No	ClinGen TOPMed gnomAD
CA355433190 rs1408932877	103	Y>S		No	ClinGen TOPMed gnomAD
TCGA novel	104	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2731045 rs765176446	104	G>S		No	ClinGen ExAC
rs1352216468 CA355433232	105	K>I		No	ClinGen gnomAD
rs1352216468 CA355433236	105	K>R		No	ClinGen gnomAD
TCGA novel	106	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1560193344 CA355433244	106	L>V		No	ClinGen Ensembl
CA355433282 rs1412413435	108	E>K		No	ClinGen gnomAD
rs751631530 CA2731046	109	I>M		No	ClinGen ExAC gnomAD
CA2731047 rs760792378	110	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA88881415 rs940815890	111	E>K		No	ClinGen TOPMed gnomAD
CA355433470 rs1341912350	113	M>I		No	ClinGen gnomAD
rs767700823 CA2731048	113	M>V		No	ClinGen ExAC TOPMed gnomAD
rs140383569 CA2731049	114	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2731050 rs756389794	115	P>S		No	ClinGen ExAC TOPMed gnomAD
rs577890097 CA2731051	118	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2731066 rs142662907	120	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs148261898 CA2731067	120	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2731068 rs148261898	120	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1190723597 CA355433956	124	D>N		No	ClinGen gnomAD
rs895019658 CA355433990	125	I>L		No	ClinGen TOPMed
CA88882257 rs895019658	125	I>V		No	ClinGen TOPMed
CA2731071 rs530139598	126	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186752843 CA2731073	128	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs201660584 CA2731074	129	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA355434182 CA2731076 rs746545064	131	M>I		No	ClinGen ExAC TOPMed gnomAD
rs200473712 CA2731075	131	M>V		No	ClinGen ExAC gnomAD
rs1048249628 CA88882282	132	T>S		No	ClinGen TOPMed
CA2731077 rs768130150	133	M>K		No	ClinGen ExAC gnomAD
CA355434251 rs1365944005	135	G>R		No	ClinGen TOPMed gnomAD
CA355434302 rs1577155784	136	E>D		No	ClinGen Ensembl
rs1218936707 CA355434281	136	E>Q		No	ClinGen gnomAD
CA355434322 rs1445231883	137	R>C		No	ClinGen TOPMed
rs747871836 CA2731079	137	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355434379 rs1314402781	139	C>S		No	ClinGen TOPMed gnomAD
rs1214242104 CA355434432	141	K>R		No	ClinGen gnomAD
CA2731082 rs762827916	143	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773018817 CA2731081	143	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs367713758 CA88882296	144	L>V		No	ClinGen Ensembl
CA2731084 rs775364239	145	V>E		No	ClinGen ExAC gnomAD
rs775364239 CA355434539	145	V>G		No	ClinGen ExAC gnomAD
CA2731083 rs770868520	145	V>M		No	ClinGen ExAC gnomAD
TCGA novel	149	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434888437 CA355434618	149	E>K		No	ClinGen gnomAD
TCGA novel	150	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410672172 CA355434788	155	G>C		No	ClinGen gnomAD
rs1457255828 CA355434790	155	G>D		No	ClinGen gnomAD
CA355435135 rs1488240799	161	H>Y		No	ClinGen TOPMed
CA355435161 rs1352737955	162	L>M		No	ClinGen gnomAD
CA355435323 rs1251018643	169	E>K		No	ClinGen TOPMed gnomAD
rs1577156021 CA355435350	170	W>G		No	ClinGen Ensembl
rs777468358 CA2731116	171	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2731117 rs201398028	172	E>G		No	ClinGen ExAC gnomAD
rs778685647 CA2731119	173	L>R		No	ClinGen ExAC gnomAD
CA2731118 rs770810099	173	L>V		No	ClinGen ExAC gnomAD
CA2731123 rs776796891	174	D>G		No	ClinGen ExAC TOPMed gnomAD
rs771927657 CA2731121	174	D>N		No	ClinGen ExAC gnomAD
rs776796891 CA2731122	174	D>V		No	ClinGen ExAC TOPMed gnomAD
rs11545172 CA88882581	176	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_051554 rs11545172 CA2731125	176	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355435634 rs1577156079	179	V>G		No	ClinGen Ensembl
CA2731128 COSM479786 rs201776756	181	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
COSM1042009 rs11545181 CA2731127	181	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA355435724 rs1448763536	182	E>D		No	ClinGen gnomAD
rs1452145782 CA355435737	183	P>A		No	ClinGen gnomAD
rs752198356 CA2731131	187	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1363228124 CA355435832	187	L>V		No	ClinGen gnomAD
CA2731132 rs755678933	188	V>L		No	ClinGen ExAC gnomAD
CA355435918 rs1342596478	189	K>R		No	ClinGen gnomAD
rs373804604 CA2731134	192	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA88882613 rs867093823	193	P>S		No	ClinGen Ensembl
rs1210165536 CA355436037	194	Y>C		No	ClinGen TOPMed gnomAD
rs141270952 CA2731136	196	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs939804772 CA88882620	197	A>D		No	ClinGen TOPMed
CA2731137 rs745667344	199	N>S		No	ClinGen ExAC gnomAD
rs1036872044 CA88882635	200	A>G		No	ClinGen TOPMed
CA355437903 rs1391242344	202	H>N		No	ClinGen gnomAD
rs928649036 CA88882658	206	D>N		No	ClinGen gnomAD
CA355438044 rs1415130683	209	M>K		No	ClinGen gnomAD
rs1318150733 CA355438037	209	M>V		No	ClinGen TOPMed
rs146926317 CA355438104	211	I>M		No	ClinGen ESP ExAC gnomAD
rs748228887 CA2731140	211	I>T		No	ClinGen ExAC gnomAD
CA2731142 rs773453167	212	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA355438111 rs773453167	212	E>Q		No	ClinGen ExAC gnomAD
CA2731143 rs749475591	214	V>L		No	ClinGen ExAC gnomAD
rs1560194080 CA355438177	215	D>G		No	ClinGen Ensembl
rs1273042885 CA355438233	218	E>Q		No	ClinGen gnomAD
rs1200944457 CA355438276	220	D>N		No	ClinGen TOPMed gnomAD
CA2731145 rs377538425	221	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2731146 rs759882711	221	I>T		No	ClinGen ExAC gnomAD
CA88882764 rs990768776	226	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs145636508 CA2731151	227	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA88882810 rs1049856062	230	C>S		No	ClinGen TOPMed gnomAD
CA355438426 rs764804657	231	L>F		No	ClinGen ExAC TOPMed gnomAD
rs764804657 CA2731153	231	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA88882842 rs916508453	233	L>F		No	ClinGen Ensembl
rs750230458 CA2731154	234	T>A		No	ClinGen ExAC TOPMed gnomAD
rs137934742 CA2731155	234	T>I		No	ClinGen ESP ExAC gnomAD
CA2731156 rs137934742	234	T>S		No	ClinGen ESP ExAC gnomAD
CA2731177 rs781344064	236	C>Y		No	ClinGen ExAC gnomAD
CA355438546 rs374114964	239	Y>*		No	ClinGen ESP TOPMed gnomAD
rs753938322 CA2731179	240	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2731178 rs753938322	240	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2731180 rs779163764	248	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2731181 rs746038923	249	L>V		No	ClinGen ExAC gnomAD
rs1560194333 CA355438610	250	R>C		No	ClinGen Ensembl
CA2731183 rs11545182	250	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs11545182 CA88883246	250	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2731182 rs11545182	250	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747380842 CA2731184	252	A>P		No	ClinGen ExAC gnomAD
CA355438621 rs1560194344	252	A>V		No	ClinGen Ensembl
CA355438651 rs1478479897	257	R>Q		No	ClinGen TOPMed
TCGA novel rs1368437053 CA355438669	259	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA2731186 rs777066270	261	R>C		No	ClinGen ExAC gnomAD
rs1298665894 CA355438680	261	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2731188 rs769231820	263	P>S		No	ClinGen ExAC gnomAD
rs762633421 CA2731190	269	A>T		No	ClinGen ExAC gnomAD
rs751393532 CA2731192	271	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA355438751 rs1266963143	272	L>F		No	ClinGen TOPMed
CA2731193 rs759460610	272	L>H		No	ClinGen ExAC gnomAD
CA2731194 rs767466862	273	N>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1199903844 CA355438757 COSM287679	273	N>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA355438765 rs1334435278	274	D>G		No	ClinGen TOPMed
rs1256925768 CA355438761	274	D>N		No	ClinGen gnomAD
rs201882149 CA2731196	275	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs752616354 CA2731195	275	M>V		No	ClinGen ExAC gnomAD
CA2731197 rs778810514	276	E>Q		No	ClinGen ExAC gnomAD
CA355438788 rs1577156723	277	L>F		No	ClinGen Ensembl
CA355438809 rs1006449808 CA355438810	280	D>E		No	ClinGen gnomAD
CA88883351 rs116732617	280	D>N		No	ClinGen 1000Genomes gnomAD
rs1316093327 CA355438813	281	I>V		No	ClinGen TOPMed
CA355438831 rs1464121460	283	T>I		No	ClinGen gnomAD
rs751823560 CA2731218	295	A>V		No	ClinGen ExAC gnomAD
rs1284421460 CA355438940	297	M>L		No	ClinGen gnomAD
CA355438959 rs1218177632	300	R>Q		No	ClinGen TOPMed gnomAD
rs967955186 CA88883582	300	R>W		No	ClinGen TOPMed gnomAD
CA355438962 rs1333833523	301	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA355438976 rs1243703003	303	V>M		No	ClinGen gnomAD
CA355438983 rs1487377657	304	F>L		No	ClinGen TOPMed gnomAD
CA2731220 rs781349669	304	F>S		No	ClinGen ExAC gnomAD
CA355438992 rs1577156902	305	L>P		No	ClinGen Ensembl
CA88883592 rs923890379	312	E>K		No	ClinGen Ensembl
VAR_051555 rs11545169 CA2731223	313	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA88883594 rs975961889	316	D>H		No	ClinGen Ensembl
rs745468990 CA2731227 CA355439162	321	M>I		No	ClinGen ExAC gnomAD
rs1312807492 CA355439155	321	M>T		No	ClinGen gnomAD
rs1171625615 CA355439148	321	M>V		No	ClinGen TOPMed
CA2731228 rs771770952	322	S>C		No	ClinGen ExAC gnomAD
rs763927587 CA2731231	324	V>A		No	ClinGen ExAC gnomAD
rs1229093319 CA355439239	329	N>S		No	ClinGen gnomAD
rs1287851299 CA355439254	331	L>S		No	ClinGen gnomAD
TCGA novel	334	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1201255374 CA355439311	335	R>Q		No	ClinGen TOPMed
rs1437935558 CA355439483	340	M>I		No	ClinGen gnomAD
TCGA novel	341	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	342	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759716680 CA2731254	343	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1235216952 CA355439559	344	V>L		No	ClinGen gnomAD
rs140070375 CA355439598	346	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs760837984 CA2731257	352	H>Y		No	ClinGen ExAC gnomAD
CA2731258 rs764503670	353	L>V		No	ClinGen ExAC gnomAD
rs369135415 CA355439817	354	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA355439843 rs1163672991	355	N>K		No	ClinGen TOPMed
rs372775967 CA88883876	356	N>T		No	ClinGen ESP TOPMed
rs762333368 CA2731279	357	R>K		No	ClinGen ExAC gnomAD
rs765806900 CA2731280	359	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	360	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2731281 rs750986370	362	G>S		No	ClinGen ExAC gnomAD
CA355440128 rs1449085433	363	S>Y		No	ClinGen gnomAD
CA355440257 rs1268747462	368	A>V		No	ClinGen gnomAD
rs765869035 CA2731283	369	R>C		No	ClinGen ExAC TOPMed gnomAD
rs751031194 CA2731284	369	R>H		No	ClinGen ExAC gnomAD
CA2731285 rs754615777	370	M>V		No	ClinGen ExAC gnomAD
rs1456973685 CA355440374	374	S>A		No	ClinGen TOPMed gnomAD
rs1011325406 CA88884273	375	S>A		No	ClinGen TOPMed gnomAD
CA355440399 rs1011325406	375	S>T		No	ClinGen TOPMed gnomAD
rs1020113114 CA88884276	378	N>T		No	ClinGen TOPMed
rs11545180 CA88884282	380	F>L		No	ClinGen Ensembl
CA88884302 rs11545170	385	F>L		No	ClinGen Ensembl
rs550480404 CA88884308	386	G>D		No	ClinGen gnomAD
rs550480404 CA88884320	386	G>V		No	ClinGen gnomAD
rs374222348 CA2731291	391	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs747143331 CA2731293	393	D>N		No	ClinGen ExAC gnomAD
CA2731294 rs768995063	401	K>R		No	ClinGen ExAC gnomAD
TCGA novel	403	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2731296 rs762243513	404	D>E		No	ClinGen ExAC gnomAD
rs1252734258 CA355441198	410	A>T		No	ClinGen gnomAD
rs201414592 CA2731307	412	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1183219730 CA355441258	414	L>F		No	ClinGen TOPMed gnomAD
rs1453927691 CA355441295	417	I>V		No	ClinGen TOPMed gnomAD
CA355441389 rs1577157775	423	D>G		No	ClinGen Ensembl
rs749050091 CA2731309	428	Q>L		No	ClinGen ExAC gnomAD
rs749050091 CA355441471	428	Q>P		No	ClinGen ExAC gnomAD
rs749050091 CA355441474	428	Q>R		No	ClinGen ExAC gnomAD
rs373839346 CA2731312	438	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA355441705 rs1397999309	440	I>L		No	ClinGen gnomAD
CA355441879 rs1249885997	444	A>T		No	ClinGen TOPMed
CA88884872 rs766228439	450	I>M		No	ClinGen Ensembl
rs1263805755 CA355441950	450	I>T		No	ClinGen gnomAD
CA2731342 rs576261146	450	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA88884873 rs199548768	452	N>D		No	ClinGen 1000Genomes
CA2731343 rs148574173	453	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA355442015 rs1486940382	455	V>D		No	ClinGen TOPMed
CA2731344 rs369498515	456	R>Q		No	ClinGen ESP ExAC gnomAD
CA88884894 rs377110401	456	R>W		No	ClinGen ESP TOPMed
CA355442202 rs1263710597	468	D>E		No	ClinGen gnomAD
TCGA novel	469	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs978904012 CA88886233	472	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	475	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344991750 CA355442277	477	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2731348 rs758349245	477	M>V		No	ClinGen ExAC gnomAD
CA355442442 rs1356989238	486	G>S		No	ClinGen gnomAD
rs1245174072 CA355442496	488	A>G		No	ClinGen gnomAD
CA2731371 rs757408797	489	Y>F		No	ClinGen ExAC gnomAD
rs142160511 CA2731372	493	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA355442647 rs1325480117	496	D>G		No	ClinGen TOPMed
COSM3723239 CA2731373 rs746199926	497	V>I	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA88886450 rs758811833	498	L>V		No	ClinGen ExAC TOPMed gnomAD
rs747432967 CA2731376	505	M>V		No	ClinGen ExAC gnomAD
CA355442850 rs1387576766	507	D>E		No	ClinGen gnomAD
rs1164808412 CA355442837	507	D>H		No	ClinGen gnomAD
CA355442923 rs1166624890	511	S>N		No	ClinGen TOPMed
CA355442962 rs1328322583	512	M>I		No	ClinGen gnomAD
rs775942974 CA2731378	512	M>T		No	ClinGen ExAC TOPMed
rs1355182332 CA355442974	513	E>A		No	ClinGen gnomAD
TCGA novel	513	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758650323 CA2731395	514	V>A		No	ClinGen ExAC gnomAD
rs780327615 CA2731396	517	V>I		No	ClinGen ExAC gnomAD
CA355443383 rs1203901646	524	M>I		No	ClinGen gnomAD
rs1291772833 CA355443380	524	M>T		No	ClinGen TOPMed gnomAD
CA2731400 rs747592693	524	M>V		No	ClinGen ExAC TOPMed gnomAD
rs769383826 CA2731401	525	I>V		No	ClinGen ExAC gnomAD
TCGA novel	526	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770722867 CA2731404	529	S>F		No	ClinGen ExAC gnomAD
CA355443466 rs1349292505	531	N>S		No	ClinGen TOPMed
rs774005666 CA2731405	533	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1197426344 CA355443511	534	V>I		No	ClinGen gnomAD
CA355443531 rs1428675664	535	T>I		No	ClinGen gnomAD
rs942380887 CA88887989	536	S>A		No	ClinGen Ensembl
rs759448769 CA355443569	538	I>L		No	ClinGen TOPMed gnomAD
rs771882603 CA2731407	538	I>T		No	ClinGen ExAC TOPMed gnomAD
rs759448769 CA88887995	538	I>V		No	ClinGen TOPMed gnomAD
CA2731409 rs760627306	540	Q>H		No	ClinGen ExAC gnomAD
CA88888007 rs1019229799	545	K>R		No	ClinGen TOPMed
CA355443745 rs1345764084	546	S>L		No	ClinGen gnomAD
rs965922836 CA88888010	550	L>F		No	ClinGen TOPMed gnomAD
CA355443825 rs1280889124	551	K>T		No	ClinGen gnomAD
rs1223763910 CA355443861	553	T>A		No	ClinGen gnomAD
CA355443872 rs1276185943	553	T>I		No	ClinGen TOPMed gnomAD
CA355443864 rs1223763910	553	T>S		No	ClinGen gnomAD
TCGA novel	555	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750504778 CA2731411 COSM1042013	556	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763100752 CA2731412	556	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355443923 rs763100752	556	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1220884978 CA355443990	560	L>F		No	ClinGen gnomAD
TCGA novel	560	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480763910 CA355444059	564	L>F		No	ClinGen gnomAD
TCGA novel	564	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480763910 CA355444056	564	L>V		No	ClinGen gnomAD
CA2731414 rs751861824	565	N>S		No	ClinGen ExAC TOPMed gnomAD
rs887173440 CA88888047	566	H>P		No	ClinGen Ensembl
rs1390473102 CA355445472	569	K>R		No	ClinGen gnomAD
rs1311133173 CA355445485	570	G>D		No	ClinGen TOPMed
TCGA novel	574	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA88888141 rs1034652062	583	V>M		No	ClinGen Ensembl
CA88888145 rs11545179	585	E>Q		No	ClinGen Ensembl
CA2731437 rs778492670	588	R>C		No	ClinGen ExAC TOPMed gnomAD
CA355445697 rs778492670	588	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2731438 rs370492527	588	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA355445703 rs370492527	588	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs757989798 CA2731442	596	D>G		No	ClinGen ExAC gnomAD
rs745494116 CA2731441	596	D>Y		No	ClinGen ExAC gnomAD
CA88888203 rs115221820	597	V>M		No	ClinGen 1000Genomes
CA355445785 rs1240221028	598	C>F		No	ClinGen gnomAD
CA88888209 rs752013591	601	A>G		No	ClinGen ExAC gnomAD
CA2731444 rs752013591	601	A>V		No	ClinGen ExAC gnomAD
rs1364571912 CA355445833	604	G>E		No	ClinGen TOPMed
rs754812167 CA2731468	605	N>H		No	ClinGen ExAC gnomAD
CA355445839 rs1287654012	605	N>S		No	ClinGen gnomAD
rs748055546 CA2731470 COSM3702376	611	Q>E	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA355445881 rs1343707904	611	Q>H		No	ClinGen gnomAD
rs1389286013 CA355445892	613	L>P		No	ClinGen TOPMed
CA355445910 rs1284111239	616	C>R		No	ClinGen gnomAD
CA355445918 rs1312576356	617	S>G		No	ClinGen gnomAD
CA355445921 rs1212029412	617	S>T		No	ClinGen TOPMed gnomAD
rs746002545 CA2731473	618	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772308619 CA355445947	620	F>L		No	ClinGen ExAC gnomAD
rs138025479 CA2731475	623	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355445978 rs1447226120	625	K>E		No	ClinGen TOPMed
CA88888556 rs886464716	627	E>K		No	ClinGen TOPMed gnomAD
rs777857217 CA88888558	629	K>R		No	ClinGen Ensembl
CA355446016 rs1419207385	630	D>H		No	ClinGen Ensembl
rs1452821669 CA355446040	633	E>Q		No	ClinGen TOPMed
TCGA novel	636	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	637	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157430609 CA355446092	639	K>R		No	ClinGen gnomAD
rs546883185 CA2731478	642	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546883185 CA2731477	642	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355446115 rs1300527907	643	P>S		No	ClinGen gnomAD
TCGA novel	644	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs568218191 CA2731479	644	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2731481 rs749941884	646	M>R		No	ClinGen ExAC gnomAD
rs376292169 CA2731480	646	M>V		No	ClinGen ESP ExAC gnomAD
rs757881754 CA2731482	648	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2731483 rs757881754	648	A>V		No	ClinGen ExAC TOPMed gnomAD
rs995928349 CA88888604	649	H>Y		No	ClinGen TOPMed
rs1011524886 CA88888627	650	Q>E		No	ClinGen TOPMed gnomAD
CA2731505 rs752506498	651	G>E		No	ClinGen ExAC gnomAD
CA88889059 rs940656565	652	V>M		No	ClinGen TOPMed
rs755911742 CA2731506	654	V>G		No	ClinGen ExAC gnomAD
rs777648805 CA2731507	655	L>V		No	ClinGen ExAC gnomAD
rs780223450 CA2731510	657	I>M		No	ClinGen ExAC
rs1560196623 CA355446211	657	I>T		No	ClinGen Ensembl
CA2731509 rs757263795	657	I>V		No	ClinGen ExAC gnomAD
rs747143347 CA2731511	660	I>F		No	ClinGen ExAC
CA2731513 CA2731514 rs781306544	662	M>I		No	ClinGen ExAC gnomAD
rs562725422 CA2731512	662	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA355446244 rs1380204746	663	G>R		No	ClinGen TOPMed
CA2731516 rs773654455	665	E>D		No	ClinGen ExAC gnomAD
rs771487984 CA2731518	667	G>A		No	ClinGen ExAC gnomAD
CA2731519 rs773851254	668	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA88889127 rs1009984125	670	M>L		No	ClinGen TOPMed gnomAD
rs1009984125 CA355446290	670	M>V		No	ClinGen TOPMed gnomAD
rs1197580389	679	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	682	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478459194 CA355446394	683	E>D		No	ClinGen TOPMed gnomAD
CA88889668 rs990070715	685	T>A		No	ClinGen Ensembl
rs763863284 CA2731544	685	T>I		No	ClinGen ExAC gnomAD
rs1363584389 CA355446409	686	L>P		No	ClinGen TOPMed
rs765241282 CA355446429	690	V>I		No	ClinGen ExAC gnomAD
CA2731547 rs765241282	690	V>L		No	ClinGen ExAC gnomAD
CA355446454 rs1300721006	694	L>V		No	ClinGen gnomAD
CA2731551 rs752882608	699	V>A		No	ClinGen ExAC gnomAD
rs1577160784 CA355446483	699	V>I		No	ClinGen Ensembl
CA355446507 rs1287326408	702	P>L		No	ClinGen TOPMed gnomAD
rs749634515 CA355446510	703	R>P		No	ClinGen ExAC TOPMed gnomAD
rs749634515 CA2731554	703	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1452464240 CA355446513	704	L>V		No	ClinGen TOPMed gnomAD
CA355446518 rs1484891414	705	N>H		No	ClinGen TOPMed
rs952500412 CA88889702	711	S>N		No	ClinGen TOPMed gnomAD
CA2731557 rs746310251	712	K>I		No	ClinGen ExAC gnomAD
CA88889709 rs140661538 COSM3427391	713	F>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA gnomAD
rs772649221 CA2731558	715	H>R		No	ClinGen ExAC gnomAD
CA2731559 rs373076241	719	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2731560 rs373076241	719	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1577160848 COSM3660387 CA355446641	723	Y>C	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs377227272 CA2731561	723	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA355446645 rs17856236	724	N>D		No	ClinGen gnomAD
CA88889724 VAR_067451 rs17856236	724	N>Y		No	ClinGen UniProt dbSNP gnomAD
TCGA novel	728	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366033070 CA355446682	729	M>T		No	ClinGen TOPMed
CA355446694 rs1446447805	731	M>V		No	ClinGen gnomAD
rs1341164547 CA355446772	738	N>H		No	ClinGen gnomAD
rs746478632 CA2731579	740	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1268460808 CA355446807	740	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA355446824 rs1320781774	742	A>S		No	ClinGen TOPMed gnomAD
CA355446821 rs1320781774	742	A>T		No	ClinGen TOPMed gnomAD
CA355446855 rs1284831875	744	M>I		No	ClinGen TOPMed gnomAD
CA88889910 rs758395906	744	M>V		No	ClinGen TOPMed gnomAD
rs888199897 CA88889911	745	L>M		No	ClinGen Ensembl
rs1258483475 CA355446869	746	R>G		No	ClinGen gnomAD
COSM209030 rs1458873339 CA355446873	746	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA88889913 rs138324602	747	Q>H		No	ClinGen ESP
TCGA novel	753	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773139800 CA2731584	758	N>D		No	ClinGen ExAC gnomAD
TCGA novel	758	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	761	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355447087 rs1464813677	761	M>T		No	ClinGen gnomAD
rs762849498 CA2731585	761	M>V		No	ClinGen ExAC TOPMed gnomAD
rs770754864 CA2731586	763	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	765	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355447224 rs1366579837	769	T>I		No	ClinGen TOPMed gnomAD
CA2731606 rs777621020	770	H>R		No	ClinGen ExAC gnomAD
CA88890290 rs768340892	770	H>Y		No	ClinGen Ensembl
CA355447295 rs1577161285	775	T>P		No	ClinGen Ensembl
CA355447319 rs770720324	777	T>P		No	ClinGen ExAC gnomAD
rs770720324 CA2731608	777	T>S		No	ClinGen ExAC gnomAD
rs1264690646 CA355447330	778	L>V		No	ClinGen gnomAD
CA2731611 rs772058033	780	P>S		No	ClinGen ExAC gnomAD
rs1268511597 CA355447374	781	Y>C		No	ClinGen gnomAD
CA355447412 rs1420815799	784	D>N		No	ClinGen gnomAD
rs761920819 CA2731614	785	R>G		No	ClinGen ExAC gnomAD
rs773435635 CA2731615	785	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2731613 rs761920819	785	R>W		No	ClinGen ExAC gnomAD
CA2731617 rs374233208	788	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306781056 CA355447457	789	S>R		No	ClinGen gnomAD
CA2731618 rs751880328	790	Q>H		No	ClinGen ExAC gnomAD
CA88890350 rs867704010	792	A>V		No	ClinGen Ensembl
CA2731619 rs114588647	793	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752235543 CA2731621	797	L>F		No	ClinGen ExAC TOPMed gnomAD
rs752235543 CA355447540	797	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1449296773 CA355447551	798	T>A		No	ClinGen TOPMed
rs1003199616 CA88890361	799	V>L		No	ClinGen TOPMed
rs1223625377 CA355447575	800	L>V		No	ClinGen TOPMed
rs368226594 CA2731622	801	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2731623 rs138940467	804	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355447660 rs1489238012	807	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2731624 rs748905586	807	R>P		No	ClinGen ExAC gnomAD
COSM1042016 rs748905586 CA355447664	807	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1182581382 CA355448106	810	I>T		No	ClinGen gnomAD
rs1293943269 CA355448114	812	G>S		No	ClinGen gnomAD
CA355448126 rs1476967303	813	K>N		No	ClinGen gnomAD
CA2731639 rs768020553	815	H>Q		No	ClinGen ExAC gnomAD
rs756693922 CA2731641	820	G>E		No	ClinGen ExAC TOPMed gnomAD
rs753347986 CA2731643	822	V>G		No	ClinGen ExAC gnomAD
rs1277140914 CA355448189	823	A>G		No	ClinGen gnomAD
CA355448197 rs367824247	825	M>L		No	ClinGen ESP
rs1405388739 CA355448201	825	M>T		No	ClinGen TOPMed
CA88890855 rs367824247	825	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA355448222 rs1318133317	828	R>P		No	ClinGen gnomAD
COSM3392247 CA2731645 rs200846938	832	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2731646 rs776690633	837	L>V		No	ClinGen ExAC TOPMed gnomAD
rs758139905 CA355448288	838	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2731647 rs758139905	838	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA355448307 rs1314871627	841	P>L		No	ClinGen TOPMed
CA88890865 rs894052668	842	V>A		No	ClinGen TOPMed
CA355448328 rs1478911057	845	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1577162000 CA355448374	850	V>G		No	ClinGen Ensembl
TCGA novel	852	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1577162012 CA355448394	853	V>G		No	ClinGen Ensembl
rs1577162025 CA355448405	855	Q>R		No	ClinGen Ensembl
CA355448433 rs1360532400	859	P>R		No	ClinGen gnomAD
CA2731672 rs573597917	860	K>N		No	ClinGen ExAC gnomAD
CA88891012 rs961622914 COSM1042017	863	T>A	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA355448467 rs1577162077	865	F>V		No	ClinGen Ensembl
rs1802799 CA88891044	869	T>P		No	ClinGen Ensembl
rs1164864097 CA355448504	870	T>N		No	ClinGen Ensembl
CA355448508 rs1240049009	871	P>T		No	ClinGen gnomAD
rs1373097011 CA355448521	873	L>S		No	ClinGen TOPMed
CA2731677 rs772485140	873	L>V		No	ClinGen ExAC gnomAD
rs1577162129 CA355448537	875	A>V		No	ClinGen Ensembl
rs373825034 CA88891073	876	H>Y		No	ClinGen ESP gnomAD
CA2731679 rs761164232	877	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1199949088 CA355448568	880	A>V		No	ClinGen TOPMed
rs776951878 CA2731681	884	T>A		No	ClinGen ExAC gnomAD
TCGA novel	889	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762409694 CA2731682	889	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1177867718 CA355448633	890	V>D		No	ClinGen gnomAD
CA2731683 rs1553843481	891	T>A		No	ClinGen Ensembl
CA355448640 rs1560197830	891	T>I		No	ClinGen Ensembl
rs1392712443 CA355448646	892	P>L		No	ClinGen gnomAD
CA355448659 rs1329123521	895	E>K		No	ClinGen gnomAD
CA355448667 rs1160918587	896	G>S		No	ClinGen gnomAD
CA2731688 rs533226155	899	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs754681779 CA2731690	901	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2731689 rs563121410	901	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355448722 rs1446707053	904	P>H		No	ClinGen gnomAD
rs112411823 CA2731691	905	N>D		No	ClinGen ExAC gnomAD
rs112411823 CA88891137	905	N>H		No	ClinGen ExAC gnomAD
rs114877343 CA2731692	905	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1284457588 CA355448733	906	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2731693 rs756091388	906	Y>H		No	ClinGen ExAC gnomAD
rs1577162265 CA355448746	908	L>F		No	ClinGen Ensembl
CA355448750 rs1283663448	908	L>P		No	ClinGen gnomAD
rs1357408939 CA548795444	909	L>L		No	ClinGen gnomAD

No associated diseases with Q13200

4 regional properties for Q13200

Type	Name	Position	InterPro Accession
repeat	Proteasome/cyclosome repeat	443 - 478	IPR002015-1
repeat	Proteasome/cyclosome repeat	480 - 512	IPR002015-2
domain	RPN1, N-terminal	56 - 354	IPR040892
domain	26S proteasome non-ATPase regulatory subunit RPN1, C-terminal	853 - 906	IPR041433

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 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.
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.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
ficolin-1-rich granule lumen	Any membrane-enclosed lumen that is part of a ficolin-1-rich granule.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
proteasome accessory complex	A protein complex, that caps one or both ends of the proteasome core complex and regulates entry into, or exit from, the proteasome core complex.
proteasome complex	A large multisubunit complex which catalyzes protein degradation, found in eukaryotes, archaea and some bacteria. In eukaryotes, this complex consists of the barrel shaped proteasome core complex and one or two associated proteins or complexes that act in regulating entry into or exit from the core.
proteasome regulatory particle	A multisubunit complex, which caps one or both ends of the proteasome core complex. This complex recognizes and unfolds ubiquitinated proteins, and translocates them to the proteasome core complex.
proteasome regulatory particle, base subcomplex	The subcomplex of the proteasome regulatory particle that directly associates with the proteasome core complex.
proteasome storage granule	An aggregation of proteasome core protease (CP) and regulatory particle (RP) complexes that localizes in the cytoplasm as dot-like structures when cells are in a quiescent state.
secretory granule lumen	The volume enclosed by the membrane of a secretory granule.

1 GO annotations of molecular function

Name	Definition
enzyme regulator activity	Binds to and modulates the activity of an enzyme.

2 GO annotations of biological process

Name	Definition
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
regulation of protein catabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8VDM4	Psmd2	26S proteasome non-ATPase regulatory subunit 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEEGGRDKAP	VQPQQSPAAA	PGGTDEKPSG	KERRDAGDKD	KEQELSEEDK	QLQDELEMLV
70	80	90	100	110	120
ERLGEKDTSL	YRPALEELRR	QIRSSTTSMT	SVPKPLKFLR	PHYGKLKEIY	ENMAPGENKR
130	140	150	160	170	180
FAADIISVLA	MTMSGERECL	KYRLVGSQEE	LASWGHEYVR	HLAGEVAKEW	QELDDAEKVQ
190	200	210	220	230	240
REPLLTLVKE	IVPYNMAHNA	EHEACDLLME	IEQVDMLEKD	IDENAYAKVC	LYLTSCVNYV
250	260	270	280	290	300
PEPENSALLR	CALGVFRKFS	RFPEALRLAL	MLNDMELVED	IFTSCKDVVV	QKQMAFMLGR
310	320	330	340	350	360
HGVFLELSED	VEEYEDLTEI	MSNVQLNSNF	LALARELDIM	EPKVPDDIYK	THLENNRFGG
370	380	390	400	410	420
SGSQVDSARM	NLASSFVNGF	VNAAFGQDKL	LTDDGNKWLY	KNKDHGMLSA	AASLGMILLW
430	440	450	460	470	480
DVDGGLTQID	KYLYSSEDYI	KSGALLACGI	VNSGVRNECD	PALALLSDYV	LHNSNTMRLG
490	500	510	520	530	540
SIFGLGLAYA	GSNREDVLTL	LLPVMGDSKS	SMEVAGVTAL	ACGMIAVGSC	NGDVTSTILQ
550	560	570	580	590	600
TIMEKSETEL	KDTYARWLPL	GLGLNHLGKG	EAIEAILAAL	EVVSEPFRSF	ANTLVDVCAY
610	620	630	640	650	660
AGSGNVLKVQ	QLLHICSEHF	DSKEKEEDKD	KKEKKDKDKK	EAPADMGAHQ	GVAVLGIALI
670	680	690	700	710	720
AMGEEIGAEM	ALRTFGHLLR	YGEPTLRRAV	PLALALISVS	NPRLNILDTL	SKFSHDADPE
730	740	750	760	770	780
VSYNSIFAMG	MVGSGTNNAR	LAAMLRQLAQ	YHAKDPNNLF	MVRLAQGLTH	LGKGTLTLCP
790	800	810	820	830	840
YHSDRQLMSQ	VAVAGLLTVL	VSFLDVRNII	LGKSHYVLYG	LVAAMQPRML	VTFDEELRPL
850	860	870	880	890	900
PVSVRVGQAV	DVVGQAGKPK	TITGFQTHTT	PVLLAHGERA	ELATEEFLPV	TPILEGFVIL

RKNPNYDL