AiPD: Autoinhibited Protein Database

Q9UJW2

Gene name	TINAG
Protein name	Tubulointerstitial nephritis antigen
Names	TIN-Ag
Species	Homo sapiens (Human)
KEGG Pathway	hsa:27283
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

162-240 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

162-240 (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

1 structures for Q9UJW2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UJW2-F1	Predicted				AlphaFoldDB

505 variants for Q9UJW2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3862102 VAR_047091 rs16885197	3	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3862103 rs200041089	4	G>R		No	ClinGen ExAC TOPMed gnomAD
CA364491514 rs1239472903	5	Y>C		No	ClinGen gnomAD
CA3862106 rs773343868	8	L>F		No	ClinGen ExAC gnomAD
rs1250204846 CA364491559	11	S>F		No	ClinGen gnomAD
CA364491555 rs1225448578	11	S>P		No	ClinGen gnomAD
rs755363828 CA3862110	13	L>F		No	ClinGen ExAC gnomAD
CA3862111 rs768043507	14	T>S		No	ClinGen ExAC gnomAD
CA3862112 rs753494073	15	T>A		No	ClinGen ExAC gnomAD
CA364491582 rs1426622622	15	T>I		No	ClinGen gnomAD
CA364491580 rs1426622622	15	T>K		No	ClinGen gnomAD
rs756967438 CA3862113	16	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1051484597 CA139105568	18	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3862115 rs745368398	18	W>R		No	ClinGen ExAC gnomAD
rs867360066 CA139105569	19	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1338419771 CA364491610	19	M>L		No	ClinGen gnomAD
CA364491620 rs1243682990	20	E>G		No	ClinGen gnomAD
CA139105570 rs267601079	20	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs757912159 CA3862116	22	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA3862117 rs2297980 VAR_047092	22	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA139105598 rs200013488	24	L>I		No	ClinGen 1000Genomes
rs34700914 CA3862118	25	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364491652 rs34700914	25	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768388132 CA3862119	27	R>K		No	ClinGen ExAC gnomAD
TCGA novel	28	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364491680 rs1253121289	29	V>E		No	ClinGen gnomAD
CA3862120 rs776438578	29	V>M		No	ClinGen ExAC gnomAD
rs1187189624 CA364491687	30	D>G		No	ClinGen gnomAD
CA364491683 rs1441036788	30	D>N		No	ClinGen gnomAD
rs748301133 CA3862121	32	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770070591 CA3862122	33	A>D		No	ClinGen ExAC gnomAD
CA364491723 rs1389561050	35	F>L		No	ClinGen gnomAD
rs1368377678 CA364491725	36	T>A		No	ClinGen gnomAD
rs1299797191 CA364491732 COSM742495 COSM1647945	37	R>K	lung Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA364491749 rs1399878239	39	H>R		No	ClinGen gnomAD
TCGA novel	40	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	41	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs180999314 CA139105608 COSM1080374	41	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
rs1384577062 CA364491773	43	Q>*		No	ClinGen gnomAD
CA364491783 rs1225682914	44	G>V		No	ClinGen gnomAD
rs1307511143 CA364491790	45	T>I		No	ClinGen gnomAD
rs766413373 CA3862125	46	R>*		No	ClinGen ExAC gnomAD
CA3862126 rs147898099	46	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3862127 rs147898099	46	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3862128 rs767955248	47	F>L		No	ClinGen ExAC gnomAD
CA3862129 rs577089536	48	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs995476692 CA139105624	49	R>T		No	ClinGen TOPMed
rs756490801 CA3862130	50	A>P		No	ClinGen ExAC TOPMed gnomAD
rs756490801 CA364491814	50	A>S		No	ClinGen ExAC TOPMed gnomAD
rs756490801 CA364491813	50	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1462828268 CA364491817	50	A>V		No	ClinGen gnomAD
CA3862131 rs764937719	51	I>V		No	ClinGen ExAC gnomAD
CA3862132 rs750081789	52	F>L		No	ClinGen ExAC TOPMed gnomAD
rs763280417 CA3862133	53	Q>H		No	ClinGen ExAC gnomAD
rs779558057 CA3862134	54	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3862135 rs746905241	55	Q>R		No	ClinGen ExAC gnomAD
CA3862137 rs780904282	56	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs754911888 CA3862136	56	Y>H		No	ClinGen ExAC gnomAD
rs1407945896 CA364491857	57	C>R		No	ClinGen gnomAD
TCGA novel	58	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	58	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364491878 rs1319456855	59	N>K		No	ClinGen gnomAD
CA364491892 rs1362126975	61	G>V		No	ClinGen gnomAD
CA3862138 rs546054433	62	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769546250 CA3862139	62	C>Y		No	ClinGen ExAC gnomAD
rs1279808912 CA364491914	64	E>D		No	ClinGen TOPMed
rs1352182730 CA364491910	64	E>G		No	ClinGen TOPMed
rs748972387 CA3862140	66	R>G		No	ClinGen ExAC gnomAD
CA364491924 rs1243605421	66	R>K		No	ClinGen TOPMed
CA364491934 rs1335156787	67	D>E		No	ClinGen TOPMed
CA3862141 rs749525351	67	D>V		No	ClinGen ExAC gnomAD
CA364491941 rs1224560280	68	D>V		No	ClinGen gnomAD
rs1264157154 CA364491953	70	C>Y		No	ClinGen gnomAD
rs770994380 CA3862143	71	V>A		No	ClinGen ExAC gnomAD
CA3862145 rs562689606	72	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3862144 rs562689606	72	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3862147 CA3862146 rs772691748	73	E>D		No	ClinGen ExAC gnomAD
CA364491971 rs1188379746	73	E>G		No	ClinGen gnomAD
rs1199991726 CA364491982	75	Y>H		No	ClinGen gnomAD
CA3862149 rs757092324 COSM1080376	76	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA364491998 rs1391626580	77	A>G		No	ClinGen Ensembl
CA364491999 COSM1651443 rs1391626580 COSM1080377	77	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs41276060 CA3862153	79	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364492061 rs1409680867	86	F>L		No	ClinGen gnomAD
rs752620313 CA139105705 CA3862156	86	F>L		No	ClinGen ExAC gnomAD
CA139105706 rs978664955	88	D>E		No	ClinGen TOPMed
TCGA novel	90	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	90	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3862158 rs755919334	92	S>C		No	ClinGen ExAC gnomAD
CA3862159 rs777452115	93	D>Y		No	ClinGen ExAC gnomAD
rs771284942 CA3862161	94	C>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	95	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141594831 CA3862162	95	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA364492126 rs1263777188	95	C>S		No	ClinGen TOPMed gnomAD
rs1490204542 CA364492136	97	D>N		No	ClinGen TOPMed gnomAD
CA364492138 rs1490204542	97	D>Y		No	ClinGen TOPMed gnomAD
rs745936450 CA3862163	98	Y>C		No	ClinGen ExAC gnomAD
CA3862164 rs772317212	99	K>R		No	ClinGen ExAC TOPMed gnomAD
CA364492164 rs776117214	100	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	100	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3862165 rs776117214	100	S>Y		No	ClinGen ExAC gnomAD
CA3862167 rs761108452	102	C>G		No	ClinGen ExAC gnomAD
CA3862166 rs761108452	102	C>R		No	ClinGen ExAC gnomAD
rs764469321 CA3862169	103	R>C		No	ClinGen ExAC gnomAD
rs766001132 CA3862170	103	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3862171 rs751283242	106	K>T		No	ClinGen ExAC gnomAD
TCGA novel	107	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759018648 CA3862172	108	W>*		No	ClinGen ExAC
CA364492284 rs1424703946	108	W>C		No	ClinGen TOPMed gnomAD
CA3862173 rs561296437	109	P>A		No	ClinGen 1000Genomes ExAC
CA3862174 rs530083525	109	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3862175 rs370756000	110	P>S		No	ClinGen ESP ExAC gnomAD
CA3862176 rs777559019	111	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1374440698 CA364492347	113	Q>H		No	ClinGen gnomAD
rs1582686762 CA364492357	114	P>L		No	ClinGen Ensembl
rs1225749148 CA364492367	115	W>L		No	ClinGen gnomAD
CA364492366 rs1225749148	115	W>S		No	ClinGen gnomAD
CA364492385 rs1358867182	116	Y>*		No	ClinGen gnomAD
rs143395719 CA139105783	116	Y>S		No	ClinGen 1000Genomes gnomAD
rs753589879 CA3862177	118	E>D		No	ClinGen ExAC gnomAD
CA3862199 rs758698119	119	G>D		No	ClinGen ExAC
CA3862200 rs780122849	121	F>I		No	ClinGen ExAC TOPMed gnomAD
CA364494089 rs1273592081	122	K>R		No	ClinGen gnomAD
rs1309084867 CA364494103	124	G>R		No	ClinGen gnomAD
CA364494101 rs1309084867	124	G>S		No	ClinGen gnomAD
CA3862201 rs747044793	126	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA139112047 rs571242627	127	Y>H		No	ClinGen Ensembl
rs755149939 CA3862202	129	E>Q		No	ClinGen ExAC gnomAD
rs748704001 CA3862204	130	G>R		No	ClinGen ExAC gnomAD
rs1041384899 CA139112060	130	G>V		No	ClinGen TOPMed gnomAD
rs1554202233 CA3862205	132	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1582698524 CA364494154	132	V>I		No	ClinGen Ensembl
rs1234075661 CA364494160	133	I>V		No	ClinGen gnomAD
TCGA novel	137	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3862208 rs773597964	138	N>H		No	ClinGen ExAC gnomAD
rs771639773 CA3862210	140	C>R		No	ClinGen ExAC gnomAD
rs1470458036 CA364494214	140	C>S		No	ClinGen TOPMed gnomAD
rs1470458036 CA364494213	140	C>Y		No	ClinGen TOPMed gnomAD
TCGA novel	141	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3862228 rs368091735	143	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs779547573 CA3862229	145	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3862231 rs202230551 CA139112386	147	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353613878 CA364494287	149	C>F		No	ClinGen TOPMed
CA3862232 rs776281164	152	H>N		No	ClinGen ExAC gnomAD
rs1349548104 CA364494311	152	H>Q		No	ClinGen gnomAD
rs1205288691 CA364494315	153	V>E		No	ClinGen gnomAD
rs201601292 CA3862233	154	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3862235 rs773348851	156	V>F		No	ClinGen ExAC TOPMed gnomAD
rs773348851 CA139112397	156	V>I		No	ClinGen ExAC TOPMed gnomAD
rs762622624 CA3862236	157	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3862237 rs141099891	157	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1058768 CA364494349	158	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_047093 rs1058768 CA3862238	158	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1058768 CA364494346	158	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1202081905 CA364494382	161	I>V		No	ClinGen gnomAD
COSM3674739 COSM3674737 CA364494395 COSM3674738 rs554215844	162	E>*	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs554215844 CA139112410	162	E>K		No	ClinGen TOPMed gnomAD
rs767430468 CA3862240	165	N>S		No	ClinGen ExAC gnomAD
CA3862241 rs372092871	166	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA364494476 rs1562149208	167	G>A		No	ClinGen Ensembl
CA3862242 rs756247934	167	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	168	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364494507 rs1302525803	170	G>E		No	ClinGen gnomAD
rs1250095774 CA364495378	171	W>R		No	ClinGen gnomAD
rs1339193957 CA364495393	172	T>A		No	ClinGen gnomAD
rs1234448210 CA364495397	172	T>K		No	ClinGen TOPMed
CA3862257 rs538762426	173	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3862258 rs759623110	173	A>V		No	ClinGen ExAC gnomAD
CA364495413 rs1460157747	174	Q>K		No	ClinGen gnomAD
rs1183163769 CA364495418	174	Q>L		No	ClinGen gnomAD
CA3862260 rs767717113	178	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs767717113 CA3862259	178	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA3862261 rs375930856	178	Q>R		No	ClinGen ExAC gnomAD
rs138909464 CA3862262	181	G>R		No	ClinGen ESP ExAC TOPMed
CA364495517 rs1372449031	181	G>V		No	ClinGen gnomAD
CA3862263 rs754300414	182	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1169433170 CA364495564	185	E>G		No	ClinGen gnomAD
CA3862266 rs140652001	186	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs758756157 CA3862267	189	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs115438249 COSM461755 CA3862268	191	R>C	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1080380 COSM1651442 CA3862269 COSM3394246 rs368916966	191	R>H	lung pancreas oesophagus endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM146014 CA3862270 rs368916966	191	R>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA364495660 rs1326391305	193	G>D		No	ClinGen gnomAD
CA364495673 rs1260416408	194	T>N		No	ClinGen TOPMed gnomAD
rs1260416408 CA364495679	194	T>S		No	ClinGen TOPMed gnomAD
rs543009999 CA3862273	196	P>L		No	ClinGen ExAC gnomAD
rs543009999 CA364495702	196	P>Q		No	ClinGen ExAC gnomAD
rs749114243 CA3862272	196	P>S		No	ClinGen ExAC TOPMed gnomAD
CA364495712 rs745676068	197	P>H		No	ClinGen ExAC TOPMed gnomAD
rs745676068 CA3862275	197	P>L		No	ClinGen ExAC TOPMed gnomAD
rs935652027 CA139114973	198	S>I		No	ClinGen TOPMed
CA364495717 rs1260032927	198	S>R		No	ClinGen Ensembl
rs41276062 CA3862276	199	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364495752 rs1261042367	200	M>I		No	ClinGen gnomAD
rs1191382973 CA364495749	200	M>T		No	ClinGen TOPMed
CA3862277 rs141589793	201	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3862278 rs760915197	201	L>P		No	ClinGen ExAC gnomAD
rs1253098758 CA364495777	203	S>G		No	ClinGen TOPMed
CA364495783 rs1197524459	203	S>I		No	ClinGen TOPMed
CA364495789 rs1479971186	204	M>V		No	ClinGen gnomAD
rs1337739603 CA364497622	209	A>G		No	ClinGen TOPMed
CA3862328 rs200699663	209	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200699663 CA3862330	209	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200699663 CA3862329	209	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749917904 CA3862331	210	S>P		No	ClinGen ExAC gnomAD
CA364497638 rs1453448149	212	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3862333 rs779934723	212	P>S		No	ClinGen ExAC TOPMed gnomAD
rs751547181 CA3862334	213	A>V		No	ClinGen ExAC gnomAD
rs1359782980 CA364497651	214	T>I		No	ClinGen gnomAD
rs1359782980 CA364497650	214	T>R		No	ClinGen gnomAD
CA3862335 rs754752082	215	T>S		No	ClinGen ExAC TOPMed gnomAD
CA364497664 rs1562162527	216	D>E		No	ClinGen Ensembl
CA364497659 rs1296093660	216	D>H		No	ClinGen gnomAD
rs1458007240 CA364497678	219	E>Q		No	ClinGen TOPMed
CA3862336 rs780878779	220	F>L		No	ClinGen ExAC gnomAD
CA3862337 rs780878779	220	F>V		No	ClinGen ExAC gnomAD
CA364497702 rs1582722197	222	V>A		No	ClinGen Ensembl
CA3862338 rs369523574	222	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs778115956 CA3862339	223	A>G		No	ClinGen ExAC gnomAD
rs1360962143 CA364497712	224	S>F		No	ClinGen gnomAD
rs144442097 CA139122226	226	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
CA364497733 rs1211659428	227	W>*		No	ClinGen gnomAD
rs749374647 CA3862340	229	G>E		No	ClinGen ExAC gnomAD
rs867530915 COSM1697425 CA139122228	230	W>*	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs771178817 CA3862341	230	W>C		No	ClinGen ExAC gnomAD
rs1186432955 CA364497759	231	T>A		No	ClinGen gnomAD
CA364497757 rs1186432955	231	T>P		No	ClinGen gnomAD
rs772445484 CA3862344	232	H>Q		No	ClinGen ExAC gnomAD
CA364497766 rs1332303457	232	H>R		No	ClinGen TOPMed gnomAD
CA3862343 rs371620355	232	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs267601080 CA3862345	233	G>D		No	ClinGen ExAC gnomAD
rs1399443174 CA364497779	234	P>L		No	ClinGen Ensembl
rs762428216 CA3862349	236	D>G		No	ClinGen ExAC gnomAD
TCGA novel	237	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3862351 rs373705465	238	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3862352 rs751457227	238	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763463772	239	N>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs754877769 CA3862353	240	C>F		No	ClinGen ExAC TOPMed gnomAD
CA364497822 rs1582722337	240	C>W		No	ClinGen Ensembl
CA364497827 rs1487991652	241	A>D		No	ClinGen TOPMed
CA364497824 rs1208952157	241	A>T		No	ClinGen TOPMed
CA3862354 rs767286970	242	A>V		No	ClinGen ExAC gnomAD
rs560583705 CA3862355	244	W>G		No	ClinGen 1000Genomes ExAC gnomAD
CA364497843 rs1445916605	244	W>L		No	ClinGen gnomAD
CA3862356 rs756005015	245	A>T		No	ClinGen ExAC gnomAD
rs866911731 CA139122277	247	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3862357 rs778114336	248	T>I		No	ClinGen ExAC gnomAD
rs757365510 CA3862359	249	A>G		No	ClinGen ExAC gnomAD
rs779187863 CA139122290	249	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3862358 rs779187863	249	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3862391 rs367662055	251	V>A		No	ClinGen ESP ExAC gnomAD
rs767107113 CA3862390	251	V>L		No	ClinGen ExAC gnomAD
CA3862392 rs189982994	252	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3862394 rs753668930	253	A>G		No	ClinGen ExAC gnomAD
rs763918929 CA3862393	253	A>S		No	ClinGen ExAC gnomAD
rs1582726668 CA364488950	254	D>G		No	ClinGen Ensembl
rs761763042 CA3862395	254	D>N		No	ClinGen ExAC gnomAD
CA139089184 rs147972841	255	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750703188 CA139089194	255	R>P		No	ClinGen ExAC gnomAD
CA3862397 rs750703188 COSM1080381	255	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs181735844 CA3862398 CA3862399	256	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373320124 CA139089209	256	I>R		No	ClinGen Ensembl
CA3862401 rs755487675	257	A>E		No	ClinGen ExAC gnomAD
CA3862400 rs751943815	257	A>T		No	ClinGen ExAC gnomAD
rs781707913 CA364488974	259	Q>L		No	ClinGen ExAC gnomAD
CA3862402 rs781707913	259	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	261	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364488987 rs1395484148	261	K>T		No	ClinGen gnomAD
CA3862403 rs748507820	262	G>D		No	ClinGen ExAC gnomAD
rs770185987 CA3862404	263	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA364488999 rs75755871	263	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3862405 rs75755871	263	R>Q	Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs745559883 CA3862406	265	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1341597665 CA364489018	266	A>D		No	ClinGen gnomAD
rs776745592 CA3862411	267	N>H		No	ClinGen ExAC TOPMed gnomAD
CA3862412 rs761675381	267	N>S		No	ClinGen ExAC TOPMed gnomAD
rs761675381 CA364489021	267	N>T		No	ClinGen ExAC TOPMed gnomAD
CA3862413 rs765143339	268	L>Q		No	ClinGen ExAC gnomAD
rs950213581 CA139089259	268	L>V		No	ClinGen Ensembl
CA139089273 rs751624208	269	S>T		No	ClinGen Ensembl
rs763241719 CA3862415	270	P>A		No	ClinGen ExAC gnomAD
rs766311011 CA3862416	271	Q>R		No	ClinGen ExAC gnomAD
CA3862418 rs755117603	273	L>F		No	ClinGen ExAC TOPMed gnomAD
rs751646348 CA3862417	273	L>V		No	ClinGen ExAC gnomAD
CA364489069 rs1435312416	275	S>C		No	ClinGen TOPMed
CA3862421 rs756425465	276	C>F		No	ClinGen ExAC
CA3862422 rs778234446	277	C>R		No	ClinGen ExAC gnomAD
CA3862423 rs745449531	277	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA3862424 COSM1754883 rs771773176	281	R>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA364489106 rs771773176	281	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3862425 rs779637104	281	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3862426 rs746483047	282	H>L		No	ClinGen ExAC gnomAD
rs1054036927 CA139089310	283	G>A		No	ClinGen Ensembl
TCGA novel	283	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768329212 CA3862427	284	C>W		No	ClinGen ExAC gnomAD
rs761871496 CA3862429	285	N>K		No	ClinGen ExAC gnomAD
CA3862428 rs776658325	285	N>S		No	ClinGen ExAC TOPMed gnomAD
CA364489132 rs776658325	285	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1219660734 CA364489138	286	S>N		No	ClinGen gnomAD
rs945986068 CA139089327	286	S>R		No	ClinGen gnomAD
CA3862430 rs769407473	288	S>N		No	ClinGen ExAC TOPMed gnomAD
CA364489148 rs1562165109	288	S>R		No	ClinGen Ensembl
TCGA novel	290	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364489163 rs773073432	290	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3862431 COSM1080382 rs773073432	290	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199741429 CA3862433	291	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759592699 CA3862435	293	W>*		No	ClinGen ExAC TOPMed gnomAD
CA364489196 rs1426870047	294	W>C		No	ClinGen gnomAD
CA364489189 rs767608737	294	W>G		No	ClinGen ExAC gnomAD
rs767608737 CA3862436	294	W>R		No	ClinGen ExAC gnomAD
CA3862437 rs753165202	295	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs997355557 CA364489198	295	Y>D		No	ClinGen Ensembl
rs997355557 CA139089383	295	Y>H		No	ClinGen Ensembl
COSM72981 CA139089398 rs376779713	299	R>C	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
rs201629982 CA3862438 COSM1445229	299	R>H	large_intestine Variant assessed as Somatic; 4.637e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA3862439 rs764312418	300	G>R		No	ClinGen ExAC gnomAD
CA364489243 rs1450970830	300	G>V		No	ClinGen gnomAD
rs1222073681 CA364489585	301	L>R		No	ClinGen TOPMed gnomAD
CA364489596 rs1209969285	302	V>A		No	ClinGen TOPMed
TCGA novel	302	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757589861 COSM1697426 CA3862460	303	S>F	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3862463 rs751188992 CA3862462	304	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA3862461 rs765548171	304	H>R		No	ClinGen ExAC gnomAD
rs781049566 CA364489619	305	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781049566 CA3862464	305	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3862466 rs376051805	307	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA364489665 rs1423671536	309	L>P		No	ClinGen gnomAD
CA3862468 rs749207390	310	F>L		No	ClinGen ExAC gnomAD
TCGA novel	310	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364489697 rs1351970584	312	D>H		No	ClinGen gnomAD
CA3862470 rs774139231	313	Q>*		No	ClinGen ExAC gnomAD
CA139090991 rs939028369	316	T>A		No	ClinGen Ensembl
rs766887902 CA139090992	316	T>S		No	ClinGen Ensembl
CA364489756 rs1330896528	317	N>K		No	ClinGen gnomAD
CA364489764 rs1582729465	318	N>S		No	ClinGen Ensembl
TCGA novel	322	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	322	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144408209 CA3862473	322	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3862474 rs147494351	324	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1314683101 CA364489837	325	R>G		No	ClinGen gnomAD
rs1305553341 CA364489841	325	R>K		No	ClinGen gnomAD
CA364489845 CA3862475 rs768636988	325	R>S		No	ClinGen ExAC TOPMed gnomAD
CA364489856 rs1450041945	326	S>F		No	ClinGen TOPMed gnomAD
CA3862477 rs762228556 COSM3394247	329	R>*	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs371322270 CA3862479	329	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371322270 CA3862478	329	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248163763 CA364489893	330	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3862482 rs752342377	332	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767247771 CA364489914 COSM451654	332	R>W	kidney Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771364363 CA139091087	333	H>R		No	ClinGen Ensembl
rs867931815 CA139091123	334	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs374709009 CA3862484	335	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3862485 rs139989527	335	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs139989527 CA3862486	335	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3862488 rs149997439	337	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771898941 CA3862489	338	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1332291693 CA364490007	338	C>Y		No	ClinGen gnomAD
CA139091166 rs868636490 COSM3736862	339	P>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs868636490 CA364490025	339	P>T		No	ClinGen gnomAD
rs780197348 CA3862490	340	N>K		No	ClinGen ExAC TOPMed gnomAD
rs747224411 CA364490072	341	N>K		No	ClinGen ExAC TOPMed gnomAD
CA364490092 rs1395583996	342	V>A		No	ClinGen TOPMed
CA3862492 rs145202827	342	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1582729687 CA364490105	343	E>G		No	ClinGen Ensembl
CA139091214 rs866147141	345	S>F		No	ClinGen gnomAD
CA364490143 rs866147141	345	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA364490176 rs762009453	347	R>K		No	ClinGen ExAC TOPMed gnomAD
rs762009453 CA3862494	347	R>T		No	ClinGen ExAC TOPMed gnomAD
rs149134126 CA3862495	348	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3862496 rs773894936	349	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3862497 rs763387249	350	Q>*		No	ClinGen ExAC gnomAD
rs766873537 CA3862498	352	S>P		No	ClinGen ExAC TOPMed gnomAD
rs752355176 CA3862500	353	P>H		No	ClinGen ExAC TOPMed gnomAD
CA139091225 rs974961142	354	P>Q		No	ClinGen TOPMed gnomAD
CA3862501 rs533749978	354	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs920767270 CA139091230	355	Y>H		No	ClinGen Ensembl
TCGA novel	356	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756830117 CA3862505	358	S>P		No	ClinGen ExAC gnomAD
rs753282275	360	N>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA139091244 rs142471971	360	N>D		No	ClinGen ESP TOPMed
CA364490399 rs1399273343	360	N>I		No	ClinGen TOPMed gnomAD
CA364490398 rs1399273343	360	N>S		No	ClinGen TOPMed gnomAD
rs1365182668 CA364490876	361	E>D		No	ClinGen TOPMed
COSM1697427 CA3862534 rs771554711	361	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs774993212 CA3862535	361	E>V		No	ClinGen ExAC gnomAD
rs1382099770 CA364490880	362	T>S		No	ClinGen gnomAD
rs1471746412 CA364490883	363	E>K		No	ClinGen gnomAD
CA3862536 rs746190535	364	I>L		No	ClinGen ExAC gnomAD
CA3862537 rs563178182	365	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs761456366 CA364490914 COSM1445230	367	E>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs761456366 CA3862539	367	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774708520 CA3862540	368	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3862541 rs528892990	369	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA139092427 rs952609910	370	Q>K		No	ClinGen TOPMed
TCGA novel	371	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3862542 rs762514418 CA364490947	371	N>K		No	ClinGen ExAC gnomAD
rs947051877 CA139092447	372	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA364490951 rs1243229820	372	G>V		No	ClinGen gnomAD
CA3862544 rs766194489	373	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766194489 CA3862543	373	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA139092452 rs978405083	373	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	374	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364490964 rs1582731401	375	Q>K		No	ClinGen Ensembl
rs151324961 CA3862566	377	I>V		No	ClinGen ESP ExAC gnomAD
CA3862567 rs140684734	378	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403579880 CA364491100	379	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1403579880 CA364491097	379	Q>K		No	ClinGen TOPMed gnomAD
CA3862568 rs764383099	380	V>D		No	ClinGen ExAC gnomAD
rs754165258 CA3862569 COSM1697428	381	R>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs3195579 CA3862570	381	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs3195579 CA139094272	381	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs544311889 CA364491162	383	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750850534 CA3862573	383	D>N		No	ClinGen ExAC TOPMed gnomAD
rs544311889 CA3862574	383	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750850534 CA3862572	383	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs747370936 CA3862575	386	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1288607570 CA364491185	386	H>Y		No	ClinGen TOPMed gnomAD
rs369126804 CA3862576	387	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	388	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146592519 CA139094305	390	G>R		No	ClinGen ESP TOPMed gnomAD
CA364491244 rs1488487599	394	H>Q		No	ClinGen gnomAD
rs1285128270 CA364491242	394	H>R		No	ClinGen gnomAD
rs201313951 CA3862578	395	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3862579 rs140298938	396	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1198980391 CA364491259	397	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	398	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1042855353 CA139094316	399	N>D		No	ClinGen Ensembl
rs770306858 CA3862580	399	N>K		No	ClinGen ExAC TOPMed
CA3862581 rs773932743	400	K>R		No	ClinGen ExAC gnomAD
rs759015454 CA3862582	401	E>D		No	ClinGen ExAC gnomAD
TCGA novel	404	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	404	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150315283 CA364491318	405	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs561602659 CA3862583	405	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs760530015 CA3862585	406	R>*		No	ClinGen ExAC TOPMed gnomAD
COSM1697430 CA364491321 rs1365790052	406	R>Q	Variant assessed as Somatic; 0.0 impact. skin prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3862587 rs140019555	407	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	407	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3862586 rs763990510	407	K>R		No	ClinGen ExAC gnomAD
CA3862588 rs755350960	408	L>F		No	ClinGen ExAC TOPMed gnomAD
rs112076007 CA3862589	408	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1238639813 CA364491334	409	Q>*		No	ClinGen TOPMed gnomAD
CA3862590 rs143211069	409	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3862592 rs138921065	411	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217718379 CA364491358	412	A>V		No	ClinGen gnomAD
CA3862594 rs34011963 VAR_047094	413	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371079311 CA3862596	414	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs756910185 CA3862597	414	K>R		No	ClinGen ExAC gnomAD
CA3862598 rs778468976	416	T>S		No	ClinGen ExAC gnomAD
rs147405762 CA3862618	418	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs745516423 CA3862619	418	W>C		No	ClinGen ExAC gnomAD
rs757911491 CA3862620	419	G>V		No	ClinGen ExAC gnomAD
TCGA novel	422	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294851061 CA364492471	424	A>E		No	ClinGen gnomAD
CA3862621 rs779737130	426	G>E		No	ClinGen ExAC TOPMed gnomAD
rs746570878 CA3862622	427	Q>H		No	ClinGen ExAC gnomAD
CA3862623 rs779671020	430	K>*		No	ClinGen ExAC TOPMed gnomAD
CA364492515 rs1582762003	430	K>N		No	ClinGen Ensembl
CA364492517 rs1295321601	431	F>V		No	ClinGen TOPMed gnomAD
rs1207349457 CA364492529	432	W>*		No	ClinGen gnomAD
rs139635385 CA3862624	432	W>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	432	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3862625 rs139635385	432	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs3736352 CA364493515	433	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs3736352 VAR_047095 CA3862641	433	I>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA139115316 rs888141622	434	A>V		No	ClinGen gnomAD
rs1418875633 CA364493550	436	N>S		No	ClinGen gnomAD
rs113922573 CA139115317	437	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3862642 rs779896518	438	W>*		No	ClinGen ExAC gnomAD
CA364493588 rs779896518	438	W>L		No	ClinGen ExAC gnomAD
TCGA novel	439	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415930779 CA364493613	440	K>E		No	ClinGen TOPMed
CA3862644 rs754596259	441	S>T		No	ClinGen ExAC gnomAD
rs777450422 CA3862646	442	W>*		No	ClinGen ExAC gnomAD
CA3862645 rs781128421	442	W>R		No	ClinGen ExAC gnomAD
TCGA novel	444	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA139115355 CA3862648 rs567840700	447	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA139115362 rs867865518	449	R>K		No	ClinGen Ensembl
CA3862649 rs749130253	450	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM191728 rs771109925 CA3862650	452	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs201783960 CA3862651	452	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA139115384 rs770793048	453	G>E		No	ClinGen ExAC gnomAD
CA3862652 rs770793048	453	G>V		No	ClinGen ExAC gnomAD
CA3862653 rs371696777	454	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs755712352 CA139115391	455	N>T		No	ClinGen Ensembl
CA3862654 rs775995344	456	E>G		No	ClinGen ExAC gnomAD
rs368359804 CA3862656	457	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3862658 rs762337502	458	D>N		No	ClinGen ExAC TOPMed gnomAD
CA364493904 rs1582770631	459	I>T		No	ClinGen Ensembl
rs1014547461 CA139115409	460	E>*		No	ClinGen TOPMed
CA3862660 rs766118436	461	K>T		No	ClinGen ExAC gnomAD
rs754471867 CA3862662	462	L>M		No	ClinGen ExAC gnomAD
CA364493953 rs1582770662	463	I>V		No	ClinGen Ensembl
CA364493965 rs1375351241	464	I>V		No	ClinGen TOPMed gnomAD
CA3862667 rs149769115	465	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1547129 CA3862666 rs149769115	465	A>T	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs558103441 CA3862668	466	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs958073213 CA139115451	467	W>*		No	ClinGen Ensembl
rs1469047289 CA364494000	468	G>V		No	ClinGen gnomAD
CA3862670 rs770768554	470	L>P		No	ClinGen ExAC gnomAD
CA364494014 rs1317793813	471	T>A		No	ClinGen TOPMed
rs779047105 CA3862671	471	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1182433752 CA364494019	472	S>G		No	ClinGen gnomAD
rs1385306655 CA364494037	474	D>G		No	ClinGen TOPMed
CA364494048 rs1396836875	476	P>T		No	ClinGen TOPMed

No associated diseases with Q9UJW2

2 regional properties for Q9UJW2

Type	Name	Position	InterPro Accession
domain	ABC1 atypical kinase-like domain	95 - 343	IPR004147
domain	UbiB domain, bacteria	95 - 344	IPR045308

Functions

		Description
EC Number
Subcellular Localization	Secreted, extracellular space, extracellular matrix, basement membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
basement membrane	A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.

2 GO annotations of molecular function

Name	Definition
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.
nucleotide binding	Binding to a nucleotide, any compound consisting of a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the ribose or deoxyribose.

2 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZI1	TINAG	Tubulointerstitial nephritis antigen	Bos taurus (Bovine)	PR
P43234	CTSO	Cathepsin O	Homo sapiens (Human)	PR
P56202	CTSW	Cathepsin W	Homo sapiens (Human)	PR
P09668	CTSH	Pro-cathepsin H	Homo sapiens (Human)	PR

10	20	30	40	50	60
MWTGYKILIF	SYLTTEIWME	KQYLSQREVD	LEAYFTRNHT	VLQGTRFKRA	IFQGQYCRNF
70	80	90	100	110	120
GCCEDRDDGC	VTEFYAANAL	CYCDKFCDRE	NSDCCPDYKS	FCREEKEWPP	HTQPWYPEGC
130	140	150	160	170	180
FKDGQHYEEG	SVIKENCNSC	TCSGQQWKCS	QHVCLVRSEL	IEQVNKGDYG	WTAQNYSQFW
190	200	210	220	230	240
GMTLEDGFKF	RLGTLPPSPM	LLSMNEMTAS	LPATTDLPEF	FVASYKWPGW	THGPLDQKNC
250	260	270	280	290	300
AASWAFSTAS	VAADRIAIQS	KGRYTANLSP	QNLISCCAKN	RHGCNSGSID	RAWWYLRKRG
310	320	330	340	350	360
LVSHACYPLF	KDQNATNNGC	AMASRSDGRG	KRHATKPCPN	NVEKSNRIYQ	CSPPYRVSSN
370	380	390	400	410	420
ETEIMKEIMQ	NGPVQAIMQV	REDFFHYKTG	IYRHVTSTNK	ESEKYRKLQT	HAVKLTGWGT
430	440	450	460	470
LRGAQGQKEK	FWIAANSWGK	SWGENGYFRI	LRGVNESDIE	KLIIAAWGQL	TSSDEP