AiPD: Autoinhibited Protein Database

Q9UHP3

Gene name	USP25 (USP21)
Protein name	Ubiquitin carboxyl-terminal hydrolase 25
Names	Deubiquitinating enzyme 25, USP on chromosome 21, Ubiquitin thioesterase 25, Ubiquitin-specific-processing protease 25
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29761
EC number	3.4.19.12: Omega peptidases
Protein Class	UBIQUITIN CARBOXYL-TERMINAL HYDROLASE (PTHR43982)

Descriptions

Ubiquitin carboxyl-terminal hydrolase 25 (USP25) is a deubiquitinating enzyme and plays a major role in the regulation of the innate immune response, in auto-immunity and in tumorigenesis, through interactions with different tumor necrosis factor (TNF) receptor-associated factor (TRAF) proteins. USP25 possesses a Ub-associated domain (UBA), two Ub-interacting motifs (UIMs), an N-terminal catalytic domain (USP), and an unknown folded C-terminal part. USP25 presents an autoinhibited tetramer through the interaction of the USP25 catalytic domain inserted domain (UCID) of one dimer with the catalytic domains (ubiquitin carboxyl-terminal hydrolase) of the other dimer and vice versa, thereby creating a tetrahedrally shaped assembly. The activation of USP25 is not achieved through substrate or ubiquitin binding and may require an unknown activator.

Autoinhibitory domains (AIDs)

Target domain	169-654 (Ubiquitin carboxyl-terminal hydrolase)
Relief mechanism	Others
Assay	Mutagenesis experiment, Structural analysis

AID

465-537 (USP25 catalytic domain inserted domain, UCID)

Target domain

169-654 (Ubiquitin carboxyl-terminal hydrolase)

Relief mechanism

Others (Dissociation of inhibited tetramer by unknown factor)

Assay

Mutagenesis experiment, Structural analysis

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

Sauer F et al. (2019) "Differential Oligomerization of the Deubiquitinases USP25 and USP28 Regulates Their Activities", Molecular cell, 74, 421-435.e10

Gersch M et al. (2019) "Distinct USP25 and USP28 Oligomerization States Regulate Deubiquitinating Activity", Molecular cell, 74, 436-451.e7

Autoinhibited structure

Activated structure

8 structures for Q9UHP3

Entry ID	Method	Resolution	Chain	Position	Source
2MUX	NMR	-	A	1-146	PDB
5GP7	X-ray	150 A	B	1046-1055	PDB
5O71	X-ray	328 A	A	1-714	PDB
6H4J	X-ray	307 A	A/B	157-706	PDB
6H4K	X-ray	205 A	A	765-1055	PDB
6HEL	X-ray	294 A	A/B	157-714	PDB
6HEM	X-ray	172 A	A	748-1048	PDB
AF-Q9UHP3-F1	Predicted				AlphaFoldDB

750 variants for Q9UHP3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA409871706 rs1256915301	5	Q>H		No	ClinGen TOPMed
CA409871711 rs1601212537	6	N>Y		No	ClinGen Ensembl
CA317966895 rs917570228	7	V>L		No	ClinGen TOPMed gnomAD
CA317966894 rs917570228	7	V>M		No	ClinGen TOPMed gnomAD
CA409871739 rs1180492061	9	Q>*		No	ClinGen gnomAD
CA409871741 rs1306537101	9	Q>R		No	ClinGen TOPMed
CA409871758 rs1475817276	10	Q>H		No	ClinGen gnomAD
rs776590771 CA9981593	10	Q>R		No	ClinGen ExAC gnomAD
rs370568281 CA409871766	11	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9981594 rs370568281	11	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA409871771 rs1397475139	12	A>T		No	ClinGen gnomAD
rs1365367855 CA409871796	14	Q>R		No	ClinGen TOPMed
rs1318479915 CA409871372	16	H>R		No	ClinGen TOPMed
rs144168951 CA409871394	19	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9981610 rs144168951	19	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9981609 rs144168951	19	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1279907982 CA409871396	20	F>L		No	ClinGen gnomAD
CA409871408 rs148656120	21	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1387679400 CA409871417	22	N>K		No	ClinGen gnomAD
CA9981612 rs375432332	23	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260189773 CA409871421	23	Q>R		No	ClinGen gnomAD
rs1194608497 CA409871429	24	L>R		No	ClinGen gnomAD
CA409871442 rs1476766532	26	E>G		No	ClinGen gnomAD
CA9981614 rs372222814	28	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409871467 rs1368322631	30	I>T		No	ClinGen gnomAD
rs894168981 CA317970838	32	D>N		No	ClinGen TOPMed
CA317970840 rs139609741	35	I>V		No	ClinGen ESP TOPMed gnomAD
CA9981617 rs760710949	37	Q>L		No	ClinGen ExAC gnomAD
rs764648417 CA9981618	41	K>T		No	ClinGen ExAC gnomAD
rs773081621 CA9981630	42	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	45	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409871591 rs1256365635	46	N>H		No	ClinGen Ensembl
rs772317554 CA9981632	48	E>G		No	ClinGen ExAC gnomAD
TCGA novel	50	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs75301395 CA9981634	51	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1227560915 CA409871633	52	A>S		No	ClinGen TOPMed
rs764169968 CA9981635	54	L>F		No	ClinGen ExAC gnomAD
rs377694221 CA409871683	56	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs377694221 CA9981636	56	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs765616196 CA409871738	59	A>G		No	ClinGen ExAC gnomAD
CA9981638 rs765616196	59	A>V		No	ClinGen ExAC gnomAD
rs1469457645 CA409871746	60	K>E		No	ClinGen gnomAD
rs750854013 CA9981639	62	P>R		No	ClinGen ExAC gnomAD
CA409871805 rs1249421506	63	Q>R		No	ClinGen gnomAD
TCGA novel	67	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409871883 rs1415476136	72	T>P		No	ClinGen gnomAD
rs766202959 CA9981641	72	T>R		No	ClinGen ExAC
CA9981643 rs754622709	73	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	73	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA317971184 rs868296675	74	L>F		No	ClinGen gnomAD
CA409871904 rs1239041637	76	G>C		No	ClinGen gnomAD
CA9981645 rs369918602	77	N>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1371741108 CA747290235	80	Y>*		No	ClinGen TOPMed
CA409871931 rs1568776701	80	Y>H		No	ClinGen Ensembl
CA9981648 rs749173918	81	I>V		No	ClinGen ExAC gnomAD
rs1353997118 CA409871948	82	S>T		No	ClinGen gnomAD
rs1233186030 CA409871962	84	G>A		No	ClinGen gnomAD
TCGA novel	85	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409871967 rs1294465596	85	S>N		No	ClinGen gnomAD
rs1336243518 CA409871970	85	S>R		No	ClinGen gnomAD
CA9981649 rs770698778	87	A>G		No	ClinGen ExAC gnomAD
rs1185899722 CA409872032	92	I>T		No	ClinGen gnomAD
rs745614149 CA9981670	96	G>R		No	ClinGen ExAC gnomAD
CA409872072 rs1218748986	98	D>G		No	ClinGen TOPMed
rs1393506444 CA409872088	100	D>G		No	ClinGen gnomAD
CA409872096 rs1600878674	101	D>G		No	ClinGen Ensembl
rs1434430164 CA409872106	103	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs961592609 CA317972581	104	R>T		No	ClinGen Ensembl
rs1361332037 CA409872127	106	I>V		No	ClinGen gnomAD
CA9981672 rs781240763	107	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9981671 rs768916086	107	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781240763 CA409872136	107	A>V		No	ClinGen ExAC TOPMed gnomAD
CA409872162 rs867956475	111	A>D		No	ClinGen gnomAD
rs867956475 CA317972582	111	A>V		No	ClinGen gnomAD
rs1300728741 CA409872168	112	E>G		No	ClinGen gnomAD
rs1369767381 CA409872177	113	S>L		No	ClinGen gnomAD
CA9981675 rs773287345	115	R>K		No	ClinGen ExAC TOPMed gnomAD
CA409872189 rs773287345	115	R>T		No	ClinGen ExAC TOPMed gnomAD
CA9981676 rs763561282	116	A>T		No	ClinGen ExAC gnomAD
CA9981678 rs544254562	120	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs759945198 CA9981679	121	G>E		No	ClinGen ExAC
rs767266652 CA9981680	122	I>V		No	ClinGen ExAC gnomAD
rs752277121 CA9981682	123	T>I		No	ClinGen ExAC gnomAD
rs752277121 CA9981681	123	T>S		No	ClinGen ExAC gnomAD
rs757210061 CA9981685	124	D>E		No	ClinGen ExAC
rs763515251 CA9981683	124	D>N		No	ClinGen ExAC gnomAD
rs753307922 CA9981684	124	D>V		No	ClinGen ExAC gnomAD
CA9981687 rs750259773	125	E>G		No	ClinGen ExAC gnomAD
rs765137871 CA9981686	125	E>K		No	ClinGen ExAC
rs758189213 CA9981688	126	E>K		No	ClinGen ExAC gnomAD
CA9981689 rs79081278	127	Q>K		No	ClinGen ExAC gnomAD
rs748334578 CA9981690	127	Q>R		No	ClinGen ExAC gnomAD
rs1459334870 CA409872267	128	A>D		No	ClinGen gnomAD
CA9981691 rs756295785	128	A>T		No	ClinGen ExAC TOPMed gnomAD
CA409872311 rs1600925359	133	L>I		No	ClinGen Ensembl
rs1441099153 CA409872346	138	A>T		No	ClinGen gnomAD
rs139554456 CA9981708	141	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs758301192 CA9981709	142	A>V		No	ClinGen ExAC
CA409872381 rs1415977640	143	C>R		No	ClinGen TOPMed
CA9981710 rs558013433	145	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9981711 rs751331220	146	R>G		No	ClinGen ExAC gnomAD
CA409872404 rs1334206029	146	R>K		No	ClinGen gnomAD
rs1228971440 CA409872409	147	T>A		No	ClinGen TOPMed gnomAD
CA409872419 rs1436284453	148	P>L		No	ClinGen gnomAD
CA9981712 rs147569537	149	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs370273715 CA9981713	149	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9981714 rs527764531	150	E>A		No	ClinGen ExAC TOPMed gnomAD
CA409872424 rs1424482435	150	E>K		No	ClinGen TOPMed gnomAD
rs1013385791 CA317974289	153	R>K		No	ClinGen TOPMed gnomAD
rs757398310 CA9981715	154	D>G		No	ClinGen ExAC TOPMed gnomAD
rs779077246 CA9981716	155	S>Y		No	ClinGen ExAC gnomAD
rs373706462 CA409872464	156	R>*		No	ClinGen ESP ExAC gnomAD
rs373706462 CA9981717	156	R>G		No	ClinGen ESP ExAC gnomAD
COSM172606 rs1349812376 CA409872465	156	R>Q	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA9981719 rs61760220	157	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9981720 rs747379224	158	P>A		No	ClinGen ExAC gnomAD
CA9981721 rs747379224	158	P>S		No	ClinGen ExAC gnomAD
CA409872482 rs1372127729	159	Y>C		No	ClinGen gnomAD
rs776261665 CA9981722	159	Y>H		No	ClinGen ExAC gnomAD
rs1372127729 CA409872481	159	Y>S		No	ClinGen gnomAD
CA409872489 rs1568810290	160	D>G		No	ClinGen Ensembl
CA9981724 rs764743829	160	D>N		No	ClinGen ExAC gnomAD
CA9981726 rs368626229	161	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1285994946 CA409872513	163	R>S		No	ClinGen gnomAD
CA317974290 rs113344981	164	Q>H		No	ClinGen Ensembl
rs766315942 CA409872535 CA9981727	166	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1214152267 CA409872539	167	A>V		No	ClinGen TOPMed gnomAD
rs372351048 COSM3423862 COSM3423861 CA9981729	169	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	175	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409872596 rs1257328910	176	N>S		No	ClinGen gnomAD
CA9981731 rs754126150	179	W>R		No	ClinGen ExAC gnomAD
CA317974292 rs199884941	181	S>C		No	ClinGen 1000Genomes
rs1394797950 CA409872632	181	S>N		No	ClinGen TOPMed
CA409872653 rs1239840636	184	I>T		No	ClinGen gnomAD
rs1460099823 CA409872650	184	I>V		No	ClinGen gnomAD
rs1045886612 CA317673691	190	L>I		No	ClinGen TOPMed gnomAD
rs1297532431 CA409833305	191	L>S		No	ClinGen TOPMed gnomAD
CA409833309 rs1421547720	192	E>K		No	ClinGen TOPMed
TCGA novel	192	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9981741 rs747400380	194	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA317673717 rs996939853	200	Y>F		No	ClinGen Ensembl
CA9981744 rs202005128	201	K>E		No	ClinGen 1000Genomes ExAC
CA9981746 rs772733799	203	P>L		No	ClinGen ExAC gnomAD
rs762491114 CA9981747	205	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9981749 rs774327614	208	D>H		No	ClinGen ExAC gnomAD
rs774327614 CA409833416	208	D>N		No	ClinGen ExAC gnomAD
rs199506117 CA9981752	210	P>S		No	ClinGen ExAC gnomAD
CA9981751 rs199506117	210	P>T		No	ClinGen ExAC gnomAD
CA409833435 rs1486025252	211	R>*		No	ClinGen TOPMed gnomAD
COSM1232009 COSM2934943 CA9981754 rs571837661	211	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA9981783 rs753124109	216	H>N		No	ClinGen ExAC gnomAD
rs756454413 CA9981784	216	H>R		No	ClinGen ExAC TOPMed gnomAD
rs753124109 CA409833488	216	H>Y		No	ClinGen ExAC gnomAD
CA9981786 rs145132387	217	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369316733 CA9981785	217	R>W		No	ClinGen ESP ExAC gnomAD
rs745348101 CA9981789	220	P>L		No	ClinGen ExAC gnomAD
rs778506349 CA9981788	220	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	221	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772178146 CA9981790	222	M>I		No	ClinGen ExAC gnomAD
CA9981791 rs200318307	223	R>C	Variant assessed as Somatic; 4.684e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9981792 rs562924540	223	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA317678890 rs775019965	226	R>K		No	ClinGen Ensembl
rs538202668 CA317678892	226	R>S		No	ClinGen TOPMed
rs1414759649 CA409833554	227	Y>H		No	ClinGen gnomAD
CA9981795 rs776225586	231	L>F		No	ClinGen ExAC gnomAD
CA9981796 rs763270750	234	G>D		No	ClinGen ExAC gnomAD
CA317678925 rs912553252	236	K>T		No	ClinGen TOPMed
CA409833617 rs1422071942	237	R>K		No	ClinGen TOPMed
CA317678953 rs867555543	239	Y>C		No	ClinGen gnomAD
CA409833641 rs1182437754	240	V>A		No	ClinGen gnomAD
rs1259706051 CA409833639	240	V>F		No	ClinGen TOPMed
rs774541710 CA9981798	244	R>K		No	ClinGen ExAC gnomAD
rs768067419 CA9981800	251	D>E		No	ClinGen ExAC gnomAD
rs759604987 CA9981799	251	D>N		No	ClinGen ExAC gnomAD
rs944126716 CA317678987	252	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA317678988 rs879162057	253	F>I		No	ClinGen Ensembl
rs753211925 CA9981801	254	K>*		No	ClinGen ExAC gnomAD
CA409833742 rs1211770493	256	N>D		No	ClinGen TOPMed
rs1465968125 CA409833756	257	D>E		No	ClinGen gnomAD
rs1303947526 CA409833762	258	S>L		No	ClinGen gnomAD
CA9981818 rs774540891	262	D>N		No	ClinGen ExAC gnomAD
CA409833819 rs1319262644	264	S>N		No	ClinGen gnomAD
TCGA novel	264	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409833834 rs1436807979	266	F>S		No	ClinGen gnomAD
TCGA novel	268	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	274	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	274	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA317681340 rs866169780	277	A>D		No	ClinGen Ensembl
rs775504439 CA9981821	278	F>L		No	ClinGen ExAC gnomAD
TCGA novel	280	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409833938 rs1245220592	280	M>T		No	ClinGen TOPMed
CA409833935 rs1488254109	280	M>V		No	ClinGen TOPMed
CA9981822 rs761191494	282	A>T		No	ClinGen ExAC gnomAD
CA9981824 rs754268155	283	E>K		No	ClinGen ExAC gnomAD
TCGA novel	285	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9981826 rs138860784	286	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9981827 rs138860784	286	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs374306435 CA409834000	287	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs201402471 CA9981852	287	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9981854 rs749059423	289	E>D		No	ClinGen ExAC TOPMed gnomAD
CA409834025 rs1472578355	291	P>T		No	ClinGen Ensembl
CA409834038 COSM1029494 rs1282493743	292	K>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1053156333 CA317683252	296	V>A		No	ClinGen TOPMed
rs780250027 CA9981856	296	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9981857 rs375782315 COSM1681884 COSM1681885	297	E>D	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1164518632 CA409834087	299	F>L		No	ClinGen TOPMed
CA409834120 rs1204865347	304	L>R		No	ClinGen gnomAD
rs1275850605 CA409834124	305	A>S		No	ClinGen gnomAD
CA409834145 rs1600990094	308	V>G		No	ClinGen Ensembl
rs770379457 CA9981861	309	L>F		No	ClinGen ExAC gnomAD
rs572556288 CA409834149	309	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9981862 rs572556288	309	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409834147 rs770379457	309	L>V		No	ClinGen ExAC gnomAD
CA409834160 rs1183197984	311	G>C		No	ClinGen gnomAD
TCGA novel	313	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771423820 CA9981885	313	K>N		No	ClinGen ExAC gnomAD
TCGA novel	313	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749731267 CA9981884	313	K>R		No	ClinGen ExAC gnomAD
rs1178669670 CA409834194	314	F>L		No	ClinGen TOPMed
rs1171381187 CA409834218	317	T>S		No	ClinGen TOPMed gnomAD
rs1390024488 CA409834236	319	M>I		No	ClinGen TOPMed
rs1367747432 CA409834250	321	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	322	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759130099 CA409834267	323	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA409834280 rs1346289608	325	L>R		No	ClinGen gnomAD
rs982735382 CA317687893	326	Q>R		No	ClinGen TOPMed
TCGA novel	327	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9981888 rs371814525	328	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA409834304 rs1482395948	329	G>R		No	ClinGen TOPMed
rs1265678892 CA409834321	331	K>R		No	ClinGen gnomAD
COSM1413406 rs1464056851 CA409834327	332	D>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA409834342 rs1249537449	334	H>R		No	ClinGen TOPMed gnomAD
CA409834375 rs1156758071	339	A>T		No	ClinGen gnomAD
CA9981896 rs750185312	341	M>I		No	ClinGen ExAC gnomAD
CA9981895 rs764974518	341	M>V		No	ClinGen ExAC TOPMed gnomAD
CA409834397 rs1180468599	342	I>T		No	ClinGen Ensembl
rs755207804 CA9981897	342	I>V		No	ClinGen ExAC gnomAD
TCGA novel	343	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	346	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9981898 rs781446979	347	E>G		No	ClinGen ExAC gnomAD
CA9981899 rs748246824	350	H>R		No	ClinGen ExAC TOPMed gnomAD
CA9981900 rs756252606	351	S>L		No	ClinGen ExAC gnomAD
CA9981901 COSM1029496 rs754610739	352	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1439148641 CA409834481	354	S>L		No	ClinGen gnomAD
rs934498442 CA317687924	356	K>E		No	ClinGen Ensembl
rs771513786 CA9981903	358	G>D		No	ClinGen ExAC gnomAD
CA409834519 rs1228492471	360	E>V		No	ClinGen gnomAD
CA409834550 rs1252686980	362	W>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA409834591 rs1347192871	368	P>L		No	ClinGen TOPMed gnomAD
CA409834593 rs1422134819	369	V>L		No	ClinGen gnomAD
CA409834592 rs1422134819	369	V>M		No	ClinGen gnomAD
rs1224445196 CA409834609	371	T>R		No	ClinGen TOPMed gnomAD
rs1187050805 CA409834672	380	N>D		No	ClinGen gnomAD
rs1369289388 CA409834683	381	Q>R		No	ClinGen TOPMed gnomAD
CA409834702 rs1315719889 COSM1534521	384	G>*	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1215511600 CA409834714	386	P>S		No	ClinGen gnomAD
CA409834728 rs1426841524	388	K>E		No	ClinGen gnomAD
TCGA novel	388	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9981922 rs763555112	391	N>S		No	ClinGen ExAC gnomAD
CA409834757 rs1370398584	392	K>Q		No	ClinGen gnomAD
TCGA novel	395	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409834791 rs1430896916	396	P>L		No	ClinGen gnomAD
CA9981923 rs753944112	397	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA409834869 rs377178345 CA9981937	405	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407732826 CA409834864	405	M>L		No	ClinGen TOPMed gnomAD
CA317689242 rs140628302	405	M>T		No	ClinGen ESP gnomAD
rs1407732826 CA409834865	405	M>V		No	ClinGen TOPMed gnomAD
rs1230360525 CA409834875	406	H>R		No	ClinGen gnomAD
rs1365605554 CA409834873	406	H>Y		No	ClinGen gnomAD
CA409834894 rs1165083619	409	R>G		No	ClinGen TOPMed
rs764376959 COSM1029500 CA317689243	411	I>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9981940 rs764376959	411	I>V		No	ClinGen ExAC TOPMed gnomAD
rs200011091 CA9981941	412	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779213795 CA9981938	413	R>E		No	ClinGen ExAC gnomAD
CA409834937 rs1256606896	415	K>R		No	ClinGen gnomAD
CA409834943 rs1413303644	416	R>K		No	ClinGen TOPMed
TCGA novel	418	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145628335 CA9981943	419	I>N		No	ClinGen ESP ExAC gnomAD
CA9981942 rs757345774	419	I>V		No	ClinGen ExAC
CA9981944 rs750944077	426	L>F		No	ClinGen ExAC gnomAD
COSM53508 rs201155673 COSM1645190 CA9981945	427	T>M	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs747354238 CA9981947	429	L>S		No	ClinGen ExAC gnomAD
rs754666962 CA9981948	430	Q>L		No	ClinGen ExAC gnomAD
TCGA novel	431	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868592256 CA317689245	434	E>G		No	ClinGen Ensembl
rs370037302 CA9981965	436	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA409835088 rs1459251486	436	Y>N		No	ClinGen TOPMed
rs751991008 CA9981966	438	S>N		No	ClinGen ExAC gnomAD
CA9981967 rs755325986	439	Y>C		No	ClinGen ExAC gnomAD
rs781482092 CA9981968	440	G>S		No	ClinGen ExAC gnomAD
rs1568856015 CA409835133	443	P>T		No	ClinGen Ensembl
CA409835139 rs1294464227	444	K>Q		No	ClinGen TOPMed gnomAD
CA9981970 rs755669876	446	F>L		No	ClinGen ExAC gnomAD
rs777388141 CA9981971	447	P>A		No	ClinGen ExAC gnomAD
CA409835184 rs1337351713	450	D>E		No	ClinGen TOPMed gnomAD
rs1568856098 CA409835195	452	L>P		No	ClinGen Ensembl
CA9981973 rs770965756	453	Q>E		No	ClinGen ExAC gnomAD
CA409835214 rs1294449292	455	A>T		No	ClinGen gnomAD
TCGA novel	458	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470898197 CA409835254	461	S>G		No	ClinGen gnomAD
rs564581893 CA9981977	464	V>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	465	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9981978 rs762117392	466	T>A		No	ClinGen ExAC TOPMed gnomAD
rs932003168 CA317689364	466	T>I		No	ClinGen TOPMed
rs1186410831 CA409835306	469	V>F		No	ClinGen TOPMed
rs114016972 CA9981980	471	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409835343 rs1355148048	474	A>G		No	ClinGen gnomAD
rs1308564799 CA409835342	474	A>S		No	ClinGen TOPMed gnomAD
rs1308564799 CA409835340	474	A>T		No	ClinGen TOPMed gnomAD
CA317689365 rs935309770	478	P>S		No	ClinGen TOPMed gnomAD
CA9981983 rs752077470	480	G>C		No	ClinGen ExAC gnomAD
CA9981985 rs767903924	482	I>M		No	ClinGen ExAC gnomAD
CA409835409 rs1205030246	485	Q>E		No	ClinGen gnomAD
TCGA novel	485	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1052558703 CA317689366	485	Q>L		No	ClinGen gnomAD
CA409835416 rs1440110409	486	T>S		No	ClinGen gnomAD
CA9981988 rs766160327	488	P>L		No	ClinGen ExAC TOPMed gnomAD
CA409835428 rs1207377127	488	P>S		No	ClinGen gnomAD
rs1476990847 CA409835454	490	T>A		No	ClinGen gnomAD
rs1171938526 CA409835469	492	E>G		No	ClinGen gnomAD
rs988375763 CA317689420	493	Q>E		No	ClinGen gnomAD
CA9982009 rs574799025	494	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1178737920 CA409835492	495	G>V		No	ClinGen gnomAD
rs200725081 CA317689421	496	A>T		No	ClinGen gnomAD
rs1365919727 CA409835519	500	E>G		No	ClinGen TOPMed
rs540855771 CA409835523	501	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409835532 rs1372740037	502	P>R		No	ClinGen TOPMed
CA9982013 rs749931321	503	S>N		No	ClinGen ExAC gnomAD
rs1274806252 CA409835542	504	T>A		No	ClinGen gnomAD
CA409835547 rs1323555491	505	S>T		No	ClinGen gnomAD
rs200026676 CA409835555	506	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200026676 CA9982015	506	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9982014 rs758451546	506	P>S		No	ClinGen ExAC gnomAD
rs913192559 CA317689422	508	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1328043597 CA409835585	511	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs150578833 CA9982016	512	I>V		No	ClinGen ESP ExAC gnomAD
rs768352730 CA9982017	513	S>L		No	ClinGen ExAC gnomAD
CA9982018 rs780977170	514	S>L		No	ClinGen ExAC TOPMed gnomAD
CA409835608 rs1203225593	515	R>S		No	ClinGen TOPMed
CA409835614 rs1484178022	516	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1269489184 CA409835626	518	I>T		No	ClinGen gnomAD
CA409835622 rs1198025490	518	I>V		No	ClinGen gnomAD
rs1481400699 CA409835630	519	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	520	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409835648 rs1201685129	521	P>R		No	ClinGen gnomAD
rs774451471 CA9982021	524	Q>*		No	ClinGen ExAC gnomAD
CA409835668 rs1159374690	524	Q>R		No	ClinGen gnomAD
CA409835675 rs759604913	525	S>C		No	ClinGen ExAC TOPMed gnomAD
CA9982022 rs759604913	525	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1346656840 CA409835677	526	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM3405320 CA9982024 rs775871482 COSM3405321	526	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1285894207 CA409835684	527	I>R		No	ClinGen gnomAD
CA9982027 rs754182220 COSM578836 COSM1649961	528	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA409835701 rs1287180035	530	D>A		No	ClinGen TOPMed
CA409835703 rs1287180035	530	D>V		No	ClinGen TOPMed
CA409835709 rs1239231263	531	L>S		No	ClinGen TOPMed gnomAD
CA9982029 rs761607553	532	P>L		No	ClinGen ExAC gnomAD
rs761607553 CA9982028	532	P>R		No	ClinGen ExAC gnomAD
rs757970764 CA9982031	533	M>I		No	ClinGen ExAC gnomAD
CA317689423 rs750021409	533	M>R		No	ClinGen ExAC TOPMed gnomAD
rs750021409 CA9982030	533	M>T		No	ClinGen ExAC TOPMed gnomAD
rs376709075 CA9982032	534	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1413407 rs796662098 CA317689424	535	P>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA409835749 rs1249628943	538	R>K		No	ClinGen gnomAD
rs111873708 CA317689425	540	I>T		No	ClinGen Ensembl
CA9982035 rs780876310	541	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA317689426 rs780876310	541	T>R		No	ClinGen ExAC TOPMed gnomAD
COSM3728380 COSM3728381 rs1471954201 CA409835778	542	E>D	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9982037 rs757538989	542	E>Q		No	ClinGen ExAC gnomAD
rs1473643619 CA409835779	543	E>K		No	ClinGen TOPMed
CA409835788 rs1251504252	544	E>Q		No	ClinGen TOPMed
rs1163332682 CA409835797	545	L>F		No	ClinGen gnomAD
rs772630919 CA9982038	546	S>P		No	ClinGen ExAC TOPMed gnomAD
rs887430544 CA317689427	548	L>V		No	ClinGen TOPMed
rs368814254 CA409835818	549	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs368814254 CA9982041	549	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9982040 rs149296974	549	E>Q		No	ClinGen ESP ExAC gnomAD
CA409835824 rs1308567556	550	S>C		No	ClinGen gnomAD
CA409835855 rs1338333572	554	R>C		No	ClinGen gnomAD
CA9982042 rs747492263	554	R>H		No	ClinGen ExAC TOPMed gnomAD
rs747492263 CA9982043	554	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	556	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409835877 rs777175563	557	T>I		No	ClinGen ExAC TOPMed gnomAD
rs777175563 CA9982044	557	T>K		No	ClinGen ExAC TOPMed gnomAD
rs762253811 CA9982045	559	I>L		No	ClinGen ExAC TOPMed gnomAD
rs147415988 CA9982046	563	T>I		No	ClinGen ESP ExAC gnomAD
rs1601045885 CA409835916	563	T>P		No	ClinGen Ensembl
CA409835924 rs1273852597	564	R>T		No	ClinGen gnomAD
rs1601059454 CA409835972	569	S>N		No	ClinGen Ensembl
rs139543191 CA9982064	569	S>R		No	ClinGen ESP ExAC TOPMed
rs1281758604 CA409835978	570	I>L		No	ClinGen TOPMed gnomAD
rs1281758604 CA409835979	570	I>V		No	ClinGen TOPMed gnomAD
rs1375391685 CA409835986	571	S>A		No	ClinGen gnomAD
CA409836013 rs1330745847	575	R>*		No	ClinGen TOPMed
CA409836015 rs762541260	575	R>L		No	ClinGen ExAC gnomAD
CA9982065 rs762541260	575	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1444737281 CA409836026	577	I>T		No	ClinGen TOPMed
rs1345133935 CA409836030	578	E>Q		No	ClinGen gnomAD
CA409836041 rs1176582850	579	L>*		No	ClinGen gnomAD
rs1407802974 CA409836042	579	L>F		No	ClinGen gnomAD
CA409836040 rs1176582850	579	L>S		No	ClinGen gnomAD
rs1288052774 CA409836049	580	M>I		No	ClinGen TOPMed gnomAD
rs770583265 CA9982066	580	M>T		No	ClinGen ExAC TOPMed gnomAD
CA317689864 rs982831126	582	S>F		No	ClinGen TOPMed
CA409836084 rs1161289160	585	S>Y		No	ClinGen TOPMed
CA9982067 rs773795221	586	M>V		No	ClinGen ExAC TOPMed gnomAD
CA409836097 rs1383783681	587	I>L		No	ClinGen TOPMed gnomAD
rs1383783681 CA409836096	587	I>V		No	ClinGen TOPMed gnomAD
rs371653984 CA9982082	590	P>S		No	ClinGen ESP ExAC gnomAD
rs201924129 CA317689955	592	R>*		No	ClinGen Ensembl
rs1420576066 COSM1029506 CA409836142	592	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1401312088 CA409836153	594	H>Y		No	ClinGen TOPMed
CA317689956 rs908463747	595	A>T		No	ClinGen TOPMed
CA9982085 rs147170304	596	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774943583 CA9982087	600	E>K		No	ClinGen ExAC gnomAD
CA409836212 rs1440088495	603	A>T		No	ClinGen gnomAD
CA9982089 rs763997700	605	A>G		No	ClinGen ExAC gnomAD
rs142062408 CA9982088	605	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA409836240 rs1568863832	607	H>R		No	ClinGen Ensembl
COSM3841644 rs1049503442 CA317689957 COSM3841643	610	A>T	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA409836265 rs1313293203	610	A>V		No	ClinGen gnomAD
CA409836270 rs1447553557	611	Y>C		No	ClinGen TOPMed
rs764873892 CA9982092	612	I>S		No	ClinGen ExAC
TCGA novel	612	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	612	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751819809 CA9982093	616	R>C		No	ClinGen ExAC gnomAD
rs1294613452 CA409836306	616	R>H		No	ClinGen TOPMed gnomAD
rs1294613452 CA409836307	616	R>P		No	ClinGen TOPMed gnomAD
CA409836305 rs751819809	616	R>S		No	ClinGen ExAC gnomAD
rs1000100946 CA317689958	617	E>K		No	ClinGen gnomAD
CA9982094 rs143782116	618	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	619	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409836344 rs752791211 CA9982096	621	M>I		No	ClinGen ExAC TOPMed gnomAD
CA9982095 rs764806970	621	M>V		No	ClinGen ExAC gnomAD
CA409836366 rs1384339876	624	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	625	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756730603 CA9982097	626	I>T		No	ClinGen ExAC TOPMed gnomAD
rs201460168 CA317689959	630	K>N		No	ClinGen 1000Genomes
rs1470602377 CA409836405	630	K>T		No	ClinGen Ensembl
TCGA novel	634	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568864037 CA409836453	637	V>L		No	ClinGen Ensembl
CA409836468 rs1169806576	639	D>G		No	ClinGen gnomAD
rs771343653 CA9982100	640	S>Y		No	ClinGen ExAC gnomAD
rs1340458333 CA409836488	642	G>D		No	ClinGen TOPMed
rs1334777212 CA409836502	644	Y>F		No	ClinGen TOPMed
CA317689960 rs146855340	645	R>T		No	ClinGen ESP gnomAD
CA9982103 rs771683915	646	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9982104 rs775031511	648	S>I		No	ClinGen ExAC TOPMed gnomAD
CA409836533 rs1601063299	649	A>S		No	ClinGen Ensembl
CA409836542 rs1338005432	650	Y>F		No	ClinGen gnomAD
CA9982105 rs746508789	653	M>I		No	ClinGen ExAC TOPMed gnomAD
rs768646388 CA9982106	655	I>L		No	ClinGen ExAC gnomAD
rs768646388 CA317689962	655	I>V		No	ClinGen ExAC gnomAD
rs1409112375 CA409836586	656	N>S		No	ClinGen TOPMed
CA409836598 rs1308782043	658	K>E		No	ClinGen gnomAD
CA409836604 rs1417088474	658	K>N		No	ClinGen TOPMed
CA409836607 rs1242125035	659	A>E		No	ClinGen gnomAD
rs140677270 CA409836606	659	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140677270 CA9982107	659	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs146479834 CA9982108	660	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA317689963 rs765100111	664	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs764025941 CA9982118	666	E>G		No	ClinGen ExAC gnomAD
rs757667098 CA9982120	667	F>C		No	ClinGen ExAC TOPMed gnomAD
rs906651390 CA317690158	668	N>I		No	ClinGen TOPMed
rs906651390 CA409836682	668	N>S		No	ClinGen TOPMed
CA317690159 rs200209123	669	K>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1197356256 CA409836696	670	E>G		No	ClinGen gnomAD
TCGA novel	671	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	671	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1210152542 CA409836706	672	G>R		No	ClinGen TOPMed
rs894344457 CA317690161	674	P>R		No	ClinGen TOPMed
CA9982123 rs746198338	677	G>A		No	ClinGen ExAC gnomAD
rs746198338 CA409836741	677	G>V		No	ClinGen ExAC gnomAD
rs779677269 CA9982125	678	I>M		No	ClinGen ExAC TOPMed gnomAD
CA9982126 rs746598442	680	T>A		No	ClinGen ExAC TOPMed gnomAD
CA409836757 rs746598442	680	T>S		No	ClinGen ExAC TOPMed gnomAD
CA317690162 rs113409149	683	P>L		No	ClinGen TOPMed gnomAD
CA9982128 rs775953281	686	R>G		No	ClinGen ExAC gnomAD
TCGA novel	687	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282021795 CA409836816	689	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	690	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748147304 CA9982129	690	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA9982131 rs769585815	695	R>L		No	ClinGen ExAC gnomAD
COSM478446 rs769585815 CA9982130	695	R>Q	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA409836872 rs1349564430	697	E>K		No	ClinGen gnomAD
rs1412596890 COSM1649959 CA409836903 COSM578834	701	E>Q	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1286165584 CA637153373	701	E>V*		No	ClinGen gnomAD
CA409836925 rs1489835367 CA409836924	703	W>C		No	ClinGen gnomAD
CA409836917 rs1404230754	703	W>R		No	ClinGen TOPMed
CA9982134 rs775871814	705	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1480818469 CA409836949	707	L>F		No	ClinGen gnomAD
CA9982137 rs562452693	708	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs562452693 CA409836953	708	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409836981 rs1189949313	712	L>V		No	ClinGen TOPMed
rs1159501361 CA409836996	714	E>Q		No	ClinGen gnomAD
CA409837024 rs1410633652	718	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9982140 rs370797917	718	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9982142 rs780338085	720	Q>*		No	ClinGen ExAC gnomAD
rs746684565 CA9982143	720	Q>H		No	ClinGen ExAC gnomAD
rs1340671927 CA409837038	720	Q>R		No	ClinGen TOPMed
rs1239391447 CA409837058	723	R>K		No	ClinGen TOPMed gnomAD
CA409837083 rs1281006177	726	E>D		No	ClinGen gnomAD
rs762586045 CA9982144	730	T>I		No	ClinGen ExAC TOPMed gnomAD
CA409837128 rs1469024336	732	A>E		No	ClinGen gnomAD
CA409837136 rs1411766530	733	Q>P		No	ClinGen TOPMed
CA9982170 rs745647932	734	A>G		No	ClinGen ExAC gnomAD
rs745647932 CA409837143	734	A>V		No	ClinGen ExAC gnomAD
CA9982171 rs371864171	735	A>V		No	ClinGen ESP ExAC gnomAD
CA409837158 rs1327002201	737	D>A		No	ClinGen gnomAD
CA409837160 rs1327002201	737	D>V		No	ClinGen gnomAD
rs143262192 CA409837164	738	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143262192 CA9982173	738	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781320884 CA409837185	741	L>V		No	ClinGen TOPMed gnomAD
CA9982175 rs773233708	746	R>G		No	ClinGen ExAC gnomAD
TCGA novel	746	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1052196375 CA317691127	748	D>H		No	ClinGen TOPMed gnomAD
CA409837231 rs1052196375	748	D>N		No	ClinGen TOPMed gnomAD
rs1052196375 CA409837232	748	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA409837238 rs1205185848	749	F>I		No	ClinGen TOPMed
CA9982176 rs763489385	752	H>D		No	ClinGen ExAC gnomAD
CA409837274 rs1320570307	754	K>Q		No	ClinGen TOPMed
TCGA novel	756	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479869963 CA409837299	757	T>A		No	ClinGen gnomAD
CA409837309 rs1287070729	758	I>S		No	ClinGen TOPMed
CA409837305 rs1176744315	758	I>V		No	ClinGen gnomAD
CA409837316 rs1360629174	759	Q>P		No	ClinGen TOPMed gnomAD
rs751976826 CA9982178 COSM169150	760	I>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1287337494 CA409837326	761	I>V		No	ClinGen TOPMed
rs1288109858 CA409837335	762	T>N		No	ClinGen gnomAD
CA409837338 rs1568877837	763	K>Q		No	ClinGen Ensembl
rs1385572476 CA409837342	763	K>R		No	ClinGen gnomAD
CA409837350 rs1307315561	764	A>V		No	ClinGen gnomAD
TCGA novel	765	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568877905 CA409837356	765	S>L		No	ClinGen Ensembl
CA317691129 rs896111093	766	H>Q		No	ClinGen TOPMed
rs761874993 CA317691128	766	H>Y		No	ClinGen Ensembl
CA9982179 rs759810775	767	E>G		No	ClinGen ExAC gnomAD
rs767853484 CA9982180	768	H>D		No	ClinGen ExAC gnomAD
CA409837376 rs1284139532	768	H>Q		No	ClinGen gnomAD
rs752319574 CA9982181	768	H>R		No	ClinGen ExAC gnomAD
TCGA novel	769	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376062834 CA409837388	770	D>A		No	ClinGen TOPMed
rs1260567925 CA409837394	771	K>E		No	ClinGen gnomAD
rs1356076655 CA409837406	772	S>I		No	ClinGen gnomAD
rs2274797 CA9982182	773	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	773	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777467729 CA9982183	775	T>I		No	ClinGen ExAC TOPMed gnomAD
rs532003284 CA9982184	776	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA409837435 rs1455013091	777	L>S		No	ClinGen Ensembl
CA9982185 rs757322631	779	S>L		No	ClinGen ExAC TOPMed gnomAD
rs777095440 CA9982239	780	A>V		No	ClinGen ExAC
TCGA novel	782	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761595689 CA9982240	784	E>Q		No	ClinGen ExAC gnomAD
rs769466191 CA9982241	786	A>G		No	ClinGen ExAC gnomAD
CA317693748 rs372285699	787	R>G		No	ClinGen Ensembl
CA409838014 rs1458976662	787	R>K		No	ClinGen gnomAD
CA409838025 rs1395316878	789	V>L		No	ClinGen TOPMed gnomAD
CA409838037 rs1465830227	790	K>N		No	ClinGen gnomAD
rs765736459 CA9982244	791	L>M		No	ClinGen ExAC gnomAD
rs1403673053 CA409838046	792	A>S		No	ClinGen TOPMed gnomAD
rs1403673053 CA409838044	792	A>T		No	ClinGen TOPMed gnomAD
rs1451763066 CA409838049	792	A>V		No	ClinGen gnomAD
CA409838051 rs1313314643	793	Q>*		No	ClinGen gnomAD
CA409838062 rs1413304054	794	E>G		No	ClinGen TOPMed
rs200781236 CA9982246	796	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752469925 CA9982248	797	P>T		No	ClinGen ExAC gnomAD
CA9982250 rs150540023	801	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs750545124 CA9982251	802	Y>H		No	ClinGen ExAC gnomAD
rs1426144494 COSM1029511 CA409838121	803	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs758518360 CA9982253	805	H>Q		No	ClinGen ExAC gnomAD
rs375785247 CA317693750	805	H>R		No	ClinGen ESP TOPMed gnomAD
rs779950608 CA9982254	806	H>R		No	ClinGen ExAC gnomAD
rs1465330225 CA409838144	807	V>I		No	ClinGen gnomAD
rs142929561 CA9982257	809	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142929561 CA9982256	809	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1480032954 CA409838169	811	F>L		No	ClinGen TOPMed
rs769399229 COSM419282 CA9982259	812	I>M	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA409838200 rs1219430129	815	Q>*		No	ClinGen TOPMed gnomAD
CA9982260 rs772918279	815	Q>P		No	ClinGen ExAC gnomAD
rs762451323 CA9982261	816	A>T		No	ClinGen ExAC gnomAD
CA409838208 rs1168176151	816	A>V		No	ClinGen Ensembl
rs891529045 CA317693753	818	K>M		No	ClinGen TOPMed
CA9982264 rs759521480	822	E>G		No	ClinGen ExAC gnomAD
CA317693754 rs201969341	822	E>K		No	ClinGen Ensembl
rs1357705728 CA409838260	824	T>A		No	ClinGen TOPMed
rs767431225 CA9982265	824	T>I		No	ClinGen ExAC gnomAD
CA409838268 rs1261774257	825	L>*		No	ClinGen gnomAD
rs200542879 CA409838272	826	L>V		No	ClinGen ExAC TOPMed gnomAD
CA317693755 rs1041824057	827	E>*		No	ClinGen Ensembl
rs763739148 CA9982268	828	Q>E		No	ClinGen ExAC gnomAD
rs763739148 CA409838283	828	Q>K		No	ClinGen ExAC gnomAD
CA409838296 rs1176441923	829	F>L		No	ClinGen gnomAD
rs750682562 CA9982269	829	F>S		No	ClinGen ExAC gnomAD
TCGA novel	835	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA317693756 rs762259848	838	E>D		No	ClinGen Ensembl
CA409838357 rs1601171055	838	E>K		No	ClinGen Ensembl
rs757004080 CA9982314	839	R>S		No	ClinGen ExAC gnomAD
rs778546183 CA9982315	840	C>Y		No	ClinGen ExAC gnomAD
CA409838400 rs1310117880	842	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA317693964 rs1046576439	842	N>Y		No	ClinGen TOPMed
CA9982317 rs557556578	843	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9982319 rs747009329	845	K>N		No	ClinGen ExAC gnomAD
rs1426598318 CA409838429	846	V>G		No	ClinGen Ensembl
CA9982320 rs374577248	846	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9982321 rs374577248	846	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1165651446 CA409838430	847	A>T		No	ClinGen gnomAD
rs761508996 CA9982322	848	Q>E		No	ClinGen ExAC gnomAD
rs138078844 CA9982324	848	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9982323 rs138078844	848	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs759778535 CA9982325	849	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9982326 rs767734189	850	K>E		No	ClinGen ExAC gnomAD
rs1361145831 CA409838486	855	K>R		No	ClinGen TOPMed
TCGA novel	857	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9982329 rs764506666	861	L>F		No	ClinGen ExAC TOPMed gnomAD
CA409838542 rs1422742332	863	E>K		No	ClinGen TOPMed
CA9982331 rs757635336	865	E>K		No	ClinGen ExAC gnomAD
CA409838560 rs1568910288	865	E>V		No	ClinGen Ensembl
CA409838581 rs1319640572	866	E>D		No	ClinGen gnomAD
TCGA novel	866	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	869	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1020868437 CA317694372	872	R>G		No	ClinGen Ensembl
CA409838645 rs1217249214	874	F>L		No	ClinGen gnomAD
CA409838646 rs1277668558	875	R>G		No	ClinGen TOPMed gnomAD
rs1312630436 CA409838666	877	T>I		No	ClinGen gnomAD
rs775709289 CA9982344 CA409838679	879	M>I		No	ClinGen ExAC gnomAD
CA409838675 rs1239237348	879	M>V		No	ClinGen gnomAD
CA409838685 rs1193093910	880	Y>C		No	ClinGen gnomAD
TCGA novel	887	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478958940 CA409838733	887	N>T		No	ClinGen gnomAD
TCGA novel	888	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9982346 rs764181025	889	Q>L		No	ClinGen ExAC gnomAD
rs1438347013 CA409838798	894	I>V		No	ClinGen gnomAD
CA409838823 rs1293095763	897	L>F		No	ClinGen TOPMed
rs1349243356 CA409838825	898	L>M		No	ClinGen TOPMed gnomAD
rs751192649 CA9982372	898	L>P		No	ClinGen ExAC gnomAD
CA409838835 rs771333405	899	F>L		No	ClinGen gnomAD
CA9982373 rs371468548	900	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9982375 rs370665684	901	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs538889339 CA9982374	901	I>V		No	ClinGen ExAC TOPMed gnomAD
rs756176647 CA9982376	903	A>T		No	ClinGen ExAC gnomAD
rs777860063 CA9982377	903	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9982379 rs375379086	904	Y>C		No	ClinGen ESP ExAC gnomAD
CA9982378 rs749181992	904	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA409838895 rs1439575453	908	K>N		No	ClinGen TOPMed gnomAD
rs778733396 CA9982380	908	K>R		No	ClinGen ExAC TOPMed gnomAD
CA409838902 rs1226207728	909	E>D		No	ClinGen gnomAD
rs937259535 CA317694926	910	L>F		No	ClinGen TOPMed gnomAD
rs937259535 CA409838905	910	L>V		No	ClinGen TOPMed gnomAD
CA9982382 rs768902141	911	L>M		No	ClinGen ExAC gnomAD
TCGA novel	912	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9982383 rs776634745	912	S>Y		No	ClinGen ExAC gnomAD
CA9982384 rs748219724	914	G>D		No	ClinGen ExAC TOPMed gnomAD
rs769797508 CA9982385	915	L>F		No	ClinGen ExAC gnomAD
rs773720681 CA9982386	916	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs372229979 CA317694927	919	H>P		No	ClinGen ESP TOPMed gnomAD
CA409838962 rs372229979	919	H>R		No	ClinGen ESP TOPMed gnomAD
CA409838961 rs1288755662	919	H>Y		No	ClinGen gnomAD
CA9982389 rs774743759	922	E>D		No	ClinGen ExAC gnomAD
rs767182819 CA9982391	923	L>F		No	ClinGen ExAC gnomAD
CA409838996 rs1437886008	924	I>V		No	ClinGen TOPMed gnomAD
rs752333568 CA9982392 COSM213440	925	S>P	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA317694928 rs143638681	926	H>Y		No	ClinGen ESP TOPMed gnomAD
rs1601209730 CA409839087	935	L>*		No	ClinGen Ensembl
rs1173065870 CA409839093	936	N>D		No	ClinGen TOPMed gnomAD
CA409839092 rs1173065870	936	N>H		No	ClinGen TOPMed gnomAD
CA409839099 rs1601209770	936	N>K		No	ClinGen Ensembl
rs1601209815 CA409839108	938	Q>K		No	ClinGen Ensembl
rs34979861 CA9982418	940	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765218290 CA9982419	942	L>F		No	ClinGen ExAC gnomAD
CA409839135 rs765218290	942	L>I		No	ClinGen ExAC gnomAD
COSM3841647 COSM3841648 rs758225327 CA9982421	944	E>K	Variant assessed as Somatic; 4.643e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1413413 CA9982422 rs779775209 COSM76969	946	G>R	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA409839177 rs1459695642	948	D>G		No	ClinGen TOPMed
CA9982423 rs752948082	948	D>Y		No	ClinGen ExAC gnomAD
rs756293019 CA317695314	949	R>*		No	ClinGen ExAC TOPMed gnomAD
rs756293019 CA9982424	949	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1057435019 CA317695315	949	R>P		No	ClinGen Ensembl
rs777876731 CA9982425	950	E>D		No	ClinGen ExAC TOPMed gnomAD
CA409839183 rs1350752385	950	E>K		No	ClinGen gnomAD
CA409839202 rs1284691572	952	N>K		No	ClinGen gnomAD
CA9982426 rs201645693	953	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1187921492 CA409839212	954	G>C		No	ClinGen gnomAD
rs745687485 CA317695317	957	I>M		No	ClinGen ExAC TOPMed gnomAD
CA9982429 rs746314990	958	M>I		No	ClinGen ExAC gnomAD
CA9982430 rs772599841	962	I>T		No	ClinGen ExAC gnomAD
TCGA novel	966	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768411109 CA409839323	970	L>V		No	ClinGen ExAC gnomAD
CA409839359 rs1454457029	975	E>K		No	ClinGen gnomAD
rs149241751 CA9982434	977	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409839376 rs1386548541	977	K>T		No	ClinGen TOPMed gnomAD
CA409839384 rs1273400109	978	D>A		No	ClinGen TOPMed
rs1208520087 CA409839397	979	I>M		No	ClinGen TOPMed
CA409839398 rs527953241	980	L>V		No	ClinGen ExAC TOPMed gnomAD
CA317695318 rs1007653440 COSM1270068	982	V>G	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9982437 rs148790794	985	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9982436 rs144459423	985	M>V		No	ClinGen ESP ExAC gnomAD
rs762759283 CA9982438	987	N>D		No	ClinGen ExAC gnomAD
rs1263307169 CA409839451	988	R>*		No	ClinGen gnomAD
CA9982439 rs369246881	988	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs751328708 CA9982440	990	C>S		No	ClinGen ExAC gnomAD
CA409839499 rs1395558794	995	Q>*		No	ClinGen TOPMed
CA920269496 rs1601210656	995	Q>H		No	ClinGen Ensembl
CA409839530 rs1437709862	999	P>S		No	ClinGen gnomAD
CA9982459 rs143875283	1000	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1300529664 CA409839559	1001	L>P		No	ClinGen gnomAD
rs759329206 CA9982461	1003	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1007	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1009	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409839612 rs1251694957	1009	L>V		No	ClinGen TOPMed
rs754123013 CA9982463	1015	C>Y		No	ClinGen ExAC gnomAD
rs1217775946 CA409839660	1016	S>A		No	ClinGen gnomAD
CA409839663 rs1273449056	1016	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9982464 rs146883440	1017	M>V		No	ClinGen ESP ExAC gnomAD
CA409839682 rs1236885227	1019	I>F		No	ClinGen gnomAD
CA9982466 rs545115233	1022	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9982465 rs765408379	1022	F>Y		No	ClinGen ExAC gnomAD
rs1010986074 CA317695344	1023	H>R		No	ClinGen TOPMed gnomAD
rs139658228 CA9982468	1023	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs148075750 CA409839715	1024	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148075750 CA9982469	1024	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1193316020 CA409839731	1026	P>L		No	ClinGen TOPMed gnomAD
CA317695345 rs376434286	1026	P>S		No	ClinGen ESP
rs1412088607 CA409839737	1027	K>R		No	ClinGen TOPMed gnomAD
rs1359136097 CA409839751	1029	P>R		No	ClinGen gnomAD
rs781368148 CA9982471	1029	P>S		No	ClinGen ExAC gnomAD
CA317695346 rs948838117	1030	S>L		No	ClinGen Ensembl
rs1314237901 CA409839769	1032	S>Y		No	ClinGen gnomAD
COSM1728568 COSM1728567 CA9982474 rs201814897	1033	T>M	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA317695348 rs1044455090	1034	H>R		No	ClinGen TOPMed
TCGA novel	1035	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA317695349 rs966690636	1035	E>V		No	ClinGen TOPMed
rs770359698 CA9982476	1036	L>F		No	ClinGen ExAC gnomAD
rs1294988955 CA637153408	1037	C>*		No	ClinGen gnomAD
COSM1029518 rs1568924040 CA409839812	1039	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	1039	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759431268 CA9982478	1039	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA409839823 rs1601212426	1040	F>L		No	ClinGen Ensembl
rs767387103 CA9982479	1041	A>S		No	ClinGen ExAC TOPMed gnomAD
rs560823930 CA317695352	1042	R>*		No	ClinGen 1000Genomes gnomAD
CA317695351 rs560823930	1042	R>G		No	ClinGen 1000Genomes gnomAD
COSM1534520 CA9982481 rs150189440	1042	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9982482 rs145724234	1044	M>T		No	ClinGen ESP ExAC gnomAD
CA317695353 rs897759568	1044	M>V		No	ClinGen Ensembl
rs1199804645 CA409839856	1046	S>F		No	ClinGen gnomAD
CA409839869 rs1476576641	1048	S>I		No	ClinGen gnomAD
CA9982483 rs750610065	1049	R>*		No	ClinGen ExAC TOPMed gnomAD
CA9982484 rs750610065	1049	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9982485 rs549945211 COSM177424	1049	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs755507749 CA9982487	1054	G>A		No	ClinGen ExAC TOPMed gnomAD
CA317695355 rs569753789	1055	R>K		No	ClinGen Ensembl

No associated diseases with Q9UHP3

6 regional properties for Q9UHP3

Type	Name	Position	InterPro Accession
domain	Peptidase C19, ubiquitin carboxyl-terminal hydrolase	169 - 654	IPR001394
conserved_site	Ubiquitin interacting motif	97 - 116	IPR003903-1
conserved_site	Ubiquitin interacting motif	124 - 140	IPR003903-2
conserved_site	Ubiquitin specific protease, conserved site	170 - 185	IPR018200-1
conserved_site	Ubiquitin specific protease, conserved site	591 - 608	IPR018200-2
domain	Ubiquitin specific protease domain	169 - 657	IPR028889

Functions

		Description
EC Number	3.4.19.12	Omega peptidases
Subcellular Localization	Cytoplasm ;
PANTHER Family	PTHR43982	UBIQUITIN CARBOXYL-TERMINAL HYDROLASE
PANTHER Subfamily	PTHR43982:SF6	UBIQUITIN CARBOXYL-TERMINAL HYDROLASE 2-RELATED
PANTHER Protein Class	cysteine protease protein modifying enzyme
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.

8 GO annotations of molecular function

Name	Definition
ATPase binding	Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
cysteine-type deubiquitinase activity	An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.
cysteine-type endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile.
peptidase activity	Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid.
SUMO binding	Binding to the small ubiquitin-like protein SUMO.
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
ubiquitin-like protein peptidase activity	An isopeptidase activity that cleaves ubiquitin or ubiquitin-like proteins (ULP; e.g. ATG8, ISG15, NEDD8, SUMO) from target proteins.

7 GO annotations of biological process

Name	Definition
negative regulation of ERAD pathway	Any process that stops, prevents or reduces the frequency, rate or extent of ERAD pathway.
protein deubiquitination	The removal of one or more ubiquitin groups from a protein.
protein K48-linked deubiquitination	A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein.
protein K63-linked deubiquitination	A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein.
protein modification process	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
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 a ubiquitin group, or multiple ubiquitin groups, to the protein.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q93009	USP7	Ubiquitin carboxyl-terminal hydrolase 7	Homo sapiens (Human)	PR
Q96K76	USP47	Ubiquitin carboxyl-terminal hydrolase 47	Homo sapiens (Human)	PR
Q92995	USP13	Ubiquitin carboxyl-terminal hydrolase 13	Homo sapiens (Human)	PR
P45974	USP5	Ubiquitin carboxyl-terminal hydrolase 5	Homo sapiens (Human)	PR
Q6A4J8	Usp7	Ubiquitin carboxyl-terminal hydrolase 7	Mus musculus (Mouse)	PR
P57080	Usp25	Ubiquitin carboxyl-terminal hydrolase 25	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MTVEQNVLQQ	SAAQKHQQTF	LNQLREITGI	NDTQILQQAL	KDSNGNLELA	VAFLTAKNAK
70	80	90	100	110	120
TPQQEETTYY	QTALPGNDRY	ISVGSQADTN	VIDLTGDDKD	DLQRAIALSL	AESNRAFRET
130	140	150	160	170	180
GITDEEQAIS	RVLEASIAEN	KACLKRTPTE	VWRDSRNPYD	RKRQDKAPVG	LKNVGNTCWF
190	200	210	220	230	240
SAVIQSLFNL	LEFRRLVLNY	KPPSNAQDLP	RNQKEHRNLP	FMRELRYLFA	LLVGTKRKYV
250	260	270	280	290	300
DPSRAVEILK	DAFKSNDSQQ	QDVSEFTHKL	LDWLEDAFQM	KAEEETDEEK	PKNPMVELFY
310	320	330	340	350	360
GRFLAVGVLE	GKKFENTEMF	GQYPLQVNGF	KDLHECLEAA	MIEGEIESLH	SENSGKSGQE
370	380	390	400	410	420
HWFTELPPVL	TFELSRFEFN	QALGRPEKIH	NKLEFPQVLY	LDRYMHRNRE	ITRIKREEIK
430	440	450	460	470	480
RLKDYLTVLQ	QRLERYLSYG	SGPKRFPLVD	VLQYALEFAS	SKPVCTSPVD	DIDASSPPSG
490	500	510	520	530	540
SIPSQTLPST	TEQQGALSSE	LPSTSPSSVA	AISSRSVIHK	PFTQSRIPPD	LPMHPAPRHI
550	560	570	580	590	600
TEEELSVLES	CLHRWRTEIE	NDTRDLQESI	SRIHRTIELM	YSDKSMIQVP	YRLHAVLVHE
610	620	630	640	650	660
GQANAGHYWA	YIFDHRESRW	MKYNDIAVTK	SSWEELVRDS	FGGYRNASAY	CLMYINDKAQ
670	680	690	700	710	720
FLIQEEFNKE	TGQPLVGIET	LPPDLRDFVE	EDNQRFEKEL	EEWDAQLAQK	ALQEKLLASQ
730	740	750	760	770	780
KLRESETSVT	TAQAAGDPEY	LEQPSRSDFS	KHLKEETIQI	ITKASHEHED	KSPETVLQSA
790	800	810	820	830	840
IKLEYARLVK	LAQEDTPPET	DYRLHHVVVY	FIQNQAPKKI	IEKTLLEQFG	DRNLSFDERC
850	860	870	880	890	900
HNIMKVAQAK	LEMIKPEEVN	LEEYEEWHQD	YRKFRETTMY	LIIGLENFQR	ESYIDSLLFL
910	920	930	940	950	960
ICAYQNNKEL	LSKGLYRGHD	EELISHYRRE	CLLKLNEQAA	ELFESGEDRE	VNNGLIIMNE
970	980	990	1000	1010	1020
FIVPFLPLLL	VDEMEEKDIL	AVEDMRNRWC	SYLGQEMEPH	LQEKLTDFLP	KLLDCSMEIK
1030	1040	1050
SFHEPPKLPS	YSTHELCERF	ARIMLSLSRT	PADGR