AiPD: Autoinhibited Protein Database

Q9UHB4

Gene name	NDOR1
Protein name	NADPH-dependent diflavin oxidoreductase 1
Names	NADPH-dependent FMN and FAD-containing oxidoreductase, Novel reductase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:27158
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

155-243 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

155-243 (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

2 structures for Q9UHB4

Entry ID	Method	Resolution	Chain	Position	Source
4H2D	X-ray	180 A	A/B	1-161	PDB
AF-Q9UHB4-F1	Predicted				AlphaFoldDB

629 variants for Q9UHB4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs777721628 CA5363009	2	P>L		No	ClinGen ExAC TOPMed gnomAD
rs777721628 CA201723675	2	P>R		No	ClinGen ExAC TOPMed gnomAD
rs554068978 CA5363008	2	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746760315 CA5363010	3	S>I		No	ClinGen ExAC TOPMed gnomAD
CA375786877 rs746760315	3	S>N		No	ClinGen ExAC TOPMed gnomAD
rs150275174 CA5363012	4	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363011 rs757060980	4	P>T		No	ClinGen ExAC TOPMed gnomAD
CA375786914 rs1223774424	5	Q>E		No	ClinGen TOPMed gnomAD
CA375786951 rs1233147639	7	L>R		No	ClinGen TOPMed
rs1487130885 CA375786960	8	V>A		No	ClinGen TOPMed gnomAD
rs768822812 CA5363014	9	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1588784413 CA375786967	9	L>H		No	ClinGen Ensembl
CA375787001 rs1180036889	11	G>D		No	ClinGen TOPMed gnomAD
CA5363015 rs774470559	11	G>S		No	ClinGen ExAC gnomAD
CA5363016 rs370632833	12	S>N		No	ClinGen ESP ExAC gnomAD
rs1327705194 CA375787040	13	Q>H		No	ClinGen TOPMed
rs1336031759 CA375787024	13	Q>K		No	ClinGen TOPMed
CA5363017 rs138877089	14	T>R		No	ClinGen ESP ExAC gnomAD
rs1367630553 CA375787056	15	G>S		No	ClinGen gnomAD
CA5363018 rs534389756	16	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5363019 rs761059811	16	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5363021 rs564661953	18	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs555506100 CA201723724	19	D>V		No	ClinGen Ensembl
CA375787177 rs1564390452	21	S>L		No	ClinGen Ensembl
rs1382749341 CA375787185	22	E>G		No	ClinGen TOPMed gnomAD
CA375787195 rs574860139	23	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5363024 rs543874580	23	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5363023 rs574860139	23	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA375787205 rs1433911628	24	L>P		No	ClinGen TOPMed gnomAD
rs1433911628 CA375787204	24	L>Q		No	ClinGen TOPMed gnomAD
rs367940263 CA5363025	25	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751502383 CA375787214	25	G>D		No	ClinGen ExAC gnomAD
CA375787208 rs367940263	25	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5363026 rs367940263	25	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751502383 CA5363027	25	G>V		No	ClinGen ExAC gnomAD
CA375787221 rs1381169076	26	R>C		No	ClinGen TOPMed gnomAD
rs1207468064 CA375787222	26	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375787223 rs1207468064	26	R>L		No	ClinGen gnomAD
CA5363030 rs750237086	27	E>D		No	ClinGen ExAC gnomAD
CA5363031 rs755198879	29	R>W		No	ClinGen ExAC gnomAD
CA5363032 rs113809617	30	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748206741 CA375787259	30	R>H		No	ClinGen ExAC gnomAD
rs748206741 CA5363033	30	R>P		No	ClinGen ExAC gnomAD
CA201723757 rs915906962	31	R>L		No	ClinGen TOPMed
rs900976947 CA201723759	32	R>W		No	ClinGen Ensembl
CA375787282 rs1588784844	33	L>F		No	ClinGen Ensembl
CA375787312 rs747513395	36	R>G		No	ClinGen ExAC gnomAD
CA5363038 rs771622435	36	R>L		No	ClinGen ExAC gnomAD
CA375787311 rs747513395	36	R>W		No	ClinGen ExAC gnomAD
rs200272893 CA5363039	37	V>E		No	ClinGen 1000Genomes ExAC TOPMed
CA375787329 rs1439865327	38	Q>*		No	ClinGen TOPMed
rs1010471773 CA201723775	40	L>V		No	ClinGen TOPMed
CA375787363 rs1401364282	41	D>E		No	ClinGen TOPMed
rs759856109 CA375787355	41	D>H		No	ClinGen ExAC gnomAD
rs759856109 CA5363040	41	D>N		No	ClinGen ExAC gnomAD
rs769441634 CA5363041	42	S>F		No	ClinGen ExAC gnomAD
rs763416153 CA201723795	44	P>L		No	ClinGen TOPMed gnomAD
CA375787390 rs763416153	44	P>Q		No	ClinGen TOPMed gnomAD
CA5363043 rs762458705	44	P>S		No	ClinGen ExAC TOPMed gnomAD
CA375787403 rs1279741431	45	V>G		No	ClinGen gnomAD
rs1371799859 CA375787437	46	V>G		No	ClinGen gnomAD
rs1461951977 CA375787447	48	L>V		No	ClinGen TOPMed gnomAD
rs1469447692 CA375787451	49	I>L		No	ClinGen TOPMed
rs750338916 CA5363069	51	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA375787479 rs760447962	52	P>H		No	ClinGen ExAC gnomAD
rs760447962 CA5363070	52	P>L		No	ClinGen ExAC gnomAD
rs758671394 CA5363073	54	V>M		No	ClinGen ExAC gnomAD
rs1554776640 CA5363074	55	I>V		No	ClinGen Ensembl
rs558189420 CA5363077	56	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA201724009 rs762362689	57	V>A		No	ClinGen Ensembl
rs1292851718 CA375787870	60	T>S		No	ClinGen gnomAD
CA375787875 rs1325742975	61	T>A		No	ClinGen TOPMed gnomAD
CA375787896 rs1223493430	63	Q>P		No	ClinGen TOPMed
CA5363078 rs761915946	65	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1041565213 CA201724012	65	D>H		No	ClinGen Ensembl
rs1442067657 CA375787934	66	P>S		No	ClinGen TOPMed
CA375787938 rs1442067657	66	P>T		No	ClinGen TOPMed
CA375787954 rs1166392328	67	P>L		No	ClinGen TOPMed gnomAD
rs781676709 CA5363080	69	N>D		No	ClinGen ExAC gnomAD
CA5363081 rs373217113	70	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA375789211 rs1403767421	72	N>S		No	ClinGen TOPMed gnomAD
CA375789209 rs1403767421	72	N>T		No	ClinGen TOPMed gnomAD
CA5363107 rs778468451	73	F>L		No	ClinGen ExAC gnomAD
rs1337089495 CA375789228	74	W>C		No	ClinGen gnomAD
rs1229086744 CA375789261	79	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs770787169 CA5363108	79	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1221930579 CA375789269	80	K>T		No	ClinGen gnomAD
rs1270127761 CA375789291	84	S>T		No	ClinGen gnomAD
CA375789301 rs1203595729	85	T>I		No	ClinGen gnomAD
CA5363112 rs368185373	86	A>V		No	ClinGen ExAC TOPMed gnomAD
rs776731050 CA5363113	87	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1175886900 CA375789332	90	M>T		No	ClinGen gnomAD
CA5363114 rs759340000	92	F>S		No	ClinGen ExAC gnomAD
CA375789359 rs1426614237	94	V>I		No	ClinGen TOPMed gnomAD
rs1439727793 CA375789382	98	G>R		No	ClinGen TOPMed gnomAD
rs1020117502 CA201729651	99	D>A		No	ClinGen TOPMed gnomAD
rs1187851485 CA375789406	101	S>L		No	ClinGen TOPMed
rs140847222 CA5363123	102	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550349376 CA5363121	102	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5363124 rs779231606	103	A>T		No	ClinGen ExAC gnomAD
CA375789422 rs1588802043	104	K>R		No	ClinGen Ensembl
CA375789899 rs1303778939	107	F>C		No	ClinGen gnomAD
CA375789895 rs1424271166	107	F>V		No	ClinGen gnomAD
rs371728333 CA5363158	108	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs760935387 CA5363159	109	A>T		No	ClinGen ExAC gnomAD
rs577652944 CA5363160	110	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5363161 rs776656886	112	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1588805993 CA375789967	113	H>P		No	ClinGen Ensembl
CA201730892 rs752836546	114	R>*		No	ClinGen TOPMed gnomAD
CA375789974 rs752836546	114	R>G		No	ClinGen TOPMed gnomAD
rs139188702 CA5363162	114	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765682004 CA5363163	115	R>Q		No	ClinGen ExAC gnomAD
rs1057101190 CA375789978	115	R>W		No	ClinGen TOPMed gnomAD
rs878874217 CA375790017	119	L>F		No	ClinGen Ensembl
rs878874217 CA201730915	119	L>I		No	ClinGen Ensembl
rs1466214064 CA375790025	120	G>R		No	ClinGen gnomAD
rs1177305953 CA375790041	121	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs763437843 CA5363165	122	S>G		No	ClinGen ExAC TOPMed gnomAD
rs375772914 CA5363166	123	A>T		No	ClinGen ESP ExAC gnomAD
CA201730934 rs573074562	124	L>F		No	ClinGen Ensembl
CA5363167 rs751918986	124	L>P		No	ClinGen ExAC gnomAD
rs369041523 CA5363169	126	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363172 rs779791327	127	V>M		No	ClinGen ExAC TOPMed gnomAD
rs145932402 CA5363173	128	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1382479652 CA375790116	130	G>R		No	ClinGen gnomAD
rs375360271 CA5363175	131	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363176 rs747930340	133	Q>E		No	ClinGen ExAC gnomAD
rs771101405 CA5363177	133	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA5363178 rs776861423	134	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1341235313 CA375790162	136	L>R		No	ClinGen TOPMed
rs769866222 CA5363180	137	G>R		No	ClinGen ExAC gnomAD
rs866508743 CA201731146	138	P>L		No	ClinGen Ensembl
rs930354664 CA201731148	139	D>N		No	ClinGen TOPMed gnomAD
rs930354664 CA375790184	139	D>Y		No	ClinGen TOPMed gnomAD
CA5363205 rs772563223	140	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs377215398 CA5363206	140	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs760378842 CA375790197	141	A>D		No	ClinGen ExAC gnomAD
rs760378842 CA5363207	141	A>V		No	ClinGen ExAC gnomAD
rs1371891559 CA375790200	142	V>L		No	ClinGen gnomAD
CA5363208 rs765983480	143	D>N		No	ClinGen ExAC gnomAD
CA201731154 rs944361874	144	P>T		No	ClinGen TOPMed
CA375790222 rs1422368654	145	W>*		No	ClinGen gnomAD
rs1040078431 CA201731164	145	W>S		No	ClinGen TOPMed gnomAD
CA375790228 rs1408669804	146	L>P		No	ClinGen Ensembl
CA201731182 rs571461858	147	R>*		No	ClinGen 1000Genomes TOPMed gnomAD
CA375790231 rs151228457	147	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5363210 rs151228457	147	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375790244 rs1390118650	149	L>W		No	ClinGen gnomAD
CA5363211 rs755620374	150	W>*		No	ClinGen ExAC gnomAD
CA5363213 rs752633627	150	W>G		No	ClinGen ExAC TOPMed gnomAD
CA375790249 rs752633627	150	W>R		No	ClinGen ExAC TOPMed gnomAD
CA201731187 rs923956738	152	R>G		No	ClinGen TOPMed gnomAD
CA201731189 rs935362954	152	R>M		No	ClinGen TOPMed
CA5363214 rs78476245	153	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA201731211 rs1002022091	156	L>Q		No	ClinGen TOPMed
rs756322270 CA5363218	158	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5363217 rs756322270	158	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs374387586 CA5363220	159	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA375790303 rs1189542286	159	P>S		No	ClinGen gnomAD
rs1162528906 CA375790308	160	P>S		No	ClinGen TOPMed gnomAD
CA201731216 rs536654925	161	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA375790319 rs1384108901	162	G>D		No	ClinGen gnomAD
rs748655791 CA5363222	162	G>S		No	ClinGen ExAC gnomAD
CA375790321 rs1384108901	162	G>V		No	ClinGen gnomAD
rs1004577127 CA201731242	163	L>F		No	ClinGen TOPMed gnomAD
CA375790332 rs1322231655	164	T>I		No	ClinGen TOPMed gnomAD
rs1225894038 COSM1461344 CA375790351	167	P>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA375790350 rs1451702405	167	P>S		No	ClinGen gnomAD
CA5363224 rs773676145	168	P>S		No	ClinGen ExAC gnomAD
CA375790361 rs1259047785	169	G>E		No	ClinGen gnomAD
rs770565072 CA5363226	169	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200852198 CA201731263	171	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA201731276 rs200852198	171	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5363227 rs200852198	171	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745493701 CA5363246	172	L>P		No	ClinGen ExAC gnomAD
rs1273405498 CA375790389	173	P>S		No	ClinGen gnomAD
CA375790400 rs1206595638	175	K>E		No	ClinGen gnomAD
rs369989027 CA201731464	180	F>S		No	ClinGen ESP
rs956796014 CA201731467	183	E>G		No	ClinGen TOPMed
rs763962975 CA5363250	184	A>E		No	ClinGen ExAC gnomAD
CA375790461 rs1427236712	184	A>T		No	ClinGen gnomAD
CA375790463 rs763962975	184	A>V		No	ClinGen ExAC gnomAD
CA375790475 rs1432872386	186	S>T		No	ClinGen gnomAD
rs201890424 CA5363251	187	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375790485 rs1309866219	188	G>C		No	ClinGen TOPMed gnomAD
CA375790486 rs141644208	188	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363253 rs141644208	188	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363255 rs755120218	190	E>Q		No	ClinGen ExAC gnomAD
rs1213136732 CA375790503	191	G>E		No	ClinGen gnomAD
CA5363256 rs765583333	191	G>R		No	ClinGen ExAC gnomAD
CA5363258 rs758562274	193	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5363259 rs758562274	193	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5363257 rs147069763	193	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5363260 rs747465562	196	H>Q		No	ClinGen ExAC gnomAD
rs1263302975 CA375790530	196	H>Y		No	ClinGen TOPMed gnomAD
rs922870774 CA201731493	197	P>R		No	ClinGen TOPMed
CA375790541 rs746275301	198	G>C		No	ClinGen ExAC TOPMed gnomAD
rs746275301 CA5363263	198	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1484868401 CA375790559	201	E>K		No	ClinGen gnomAD
CA375790570 rs748732578	202	P>H		No	ClinGen ExAC TOPMed gnomAD
CA5363266 rs748732578	202	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5363265 rs775138147	202	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5363267 rs768153043	203	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1243133298 CA375790577	204	S>P		No	ClinGen Ensembl
CA375790592 rs375191251	206	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363269 rs761637810	206	S>P		No	ClinGen ExAC gnomAD
CA5363270 rs375191251	206	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs772838517 CA5363271	208	P>R		No	ClinGen ExAC gnomAD
CA201731543 rs925164073	209	F>L		No	ClinGen Ensembl
rs1366377808 CA375790629	212	P>L		No	ClinGen gnomAD
rs760537913 CA5363272	212	P>S		No	ClinGen ExAC gnomAD
CA5363273 rs765495228	213	M>I		No	ClinGen ExAC gnomAD
CA201731553 rs937940405	213	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5363274 rs752971234	215	S>T		No	ClinGen ExAC gnomAD
CA375790656 rs1423540101	216	N>K		No	ClinGen gnomAD
rs142353569 CA5363277	217	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758757575 CA5363275	217	Q>K		No	ClinGen ExAC TOPMed
rs369326691 CA5363276	217	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208015067 CA375790677	220	T>S		No	ClinGen gnomAD
rs1466063348 CA375790681	221	G>S		No	ClinGen gnomAD
rs756476826 CA5363281	222	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5363280 rs746164085	222	P>S		No	ClinGen ExAC gnomAD
rs746164085 CA201731569	222	P>T		No	ClinGen ExAC gnomAD
CA375790695 rs1472594592	223	S>F		No	ClinGen gnomAD
CA201731572 rs1013863219	224	H>Y		No	ClinGen Ensembl
CA5363282 rs780466776	225	F>L		No	ClinGen ExAC gnomAD
rs374444167 CA201731575	225	F>L		No	ClinGen Ensembl
CA375790706 rs1416041654	225	F>S		No	ClinGen gnomAD
rs897275706 CA201731578	226	Q>R		No	ClinGen Ensembl
rs372921282 CA5363284	227	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs200360060 CA5363285	228	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs200360060 CA5363286	228	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs200360060 CA5363287	228	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA375790729 COSM1598186 rs1459107841	229	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1390087312 CA375790727	229	R>W		No	ClinGen gnomAD
CA375790742 rs773212598	231	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5363289 rs760476937	232	E>D		No	ClinGen ExAC gnomAD
rs1339440276 CA375790745	232	E>K		No	ClinGen gnomAD
CA5363290 rs770843750	233	F>L		No	ClinGen ExAC gnomAD
CA375790759 rs1370530850	234	D>H		No	ClinGen gnomAD
CA5363291 rs776623658	235	I>V		No	ClinGen ExAC gnomAD
rs113736428 CA5363292	236	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764416218 CA5363293	237	G>S		No	ClinGen ExAC gnomAD
CA375790784 rs1371176299	238	S>P		No	ClinGen TOPMed
CA5363295 rs761968397	240	I>M		No	ClinGen ExAC gnomAD
rs767846125 CA5363296	241	S>G		No	ClinGen ExAC gnomAD
rs1437295423 CA375790802	241	S>N		No	ClinGen TOPMed
rs1004201299 CA201733330	242	F>S		No	ClinGen TOPMed
rs1466734155 CA375791246	243	A>T		No	ClinGen TOPMed
CA5363331 rs750054866	244	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1201387675 CA375791275	245	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375791282 rs1246561894	245	G>V		No	ClinGen gnomAD
CA375791406 rs1182292946	250	I>L		No	ClinGen TOPMed
rs114801832 CA5363334	251	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375791429 rs1391687311	251	Q>R		No	ClinGen gnomAD
CA375791438 rs1306966081	252	P>L		No	ClinGen gnomAD
rs866400530 CA201733386	252	P>T		No	ClinGen Ensembl
COSM1489837 rs200133206 CA5363335	255	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5363336 rs200133206	255	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1388456889 CA375791505	256	A>T		No	ClinGen gnomAD
CA375791520 rs1318522215	257	A>T		No	ClinGen gnomAD
rs1318724549 CA375791529	257	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA375791547 rs1435593136	258	H>Y		No	ClinGen gnomAD
rs1298578087 CA375791557	259	V>I		No	ClinGen gnomAD
CA375791594 rs1242647057	260	Q>H		No	ClinGen gnomAD
CA5363340 rs765619684	260	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA5363339 rs765619684	260	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs201990603 CA5363342	261	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5363341 rs371397893	261	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751056166 CA5363343	264	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA5363344 rs756833003	264	Q>R		No	ClinGen ExAC gnomAD
rs1464714091 CA375791668	265	V>M		No	ClinGen gnomAD
rs780917071 CA5363345	267	G>S		No	ClinGen ExAC TOPMed gnomAD
rs756056918 CA5363347	270	P>R		No	ClinGen ExAC gnomAD
rs1186150238 CA375791768	270	P>S		No	ClinGen gnomAD
rs749072331 CA5363349	271	D>E		No	ClinGen ExAC gnomAD
CA201733443 rs987750943	271	D>H		No	ClinGen TOPMed gnomAD
rs772292364 CA375791818	272	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs772292364 CA375791817	272	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA5363350 rs772292364	272	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1240984020 CA375791821	272	Q>P		No	ClinGen TOPMed
rs747021221 CA5363353	275	M>L		No	ClinGen ExAC TOPMed gnomAD
CA375791910 rs1588810242	276	L>V		No	ClinGen Ensembl
rs1588810272 CA375791927	277	Q>*		No	ClinGen Ensembl
rs1564398895 CA375791942	277	Q>H		No	ClinGen Ensembl
rs770991148 CA5363354	277	Q>R		No	ClinGen ExAC gnomAD
CA201733455 rs368517978	278	P>L		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA5363358 rs765701912	279	R>P		No	ClinGen ExAC gnomAD
rs765701912 CA5363357	279	R>Q		No	ClinGen ExAC gnomAD
CA5363356 rs138437106	279	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA201733495 rs946629083	281	P>A		No	ClinGen TOPMed
CA5363360 rs117332028	281	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375792172 rs1300391809	283	V>D		No	ClinGen gnomAD
CA375792171 rs1300391809	283	V>G		No	ClinGen gnomAD
rs1366141887 CA375792191	284	S>F		No	ClinGen gnomAD
CA5363391 rs778654721	285	S>Y		No	ClinGen ExAC gnomAD
CA201733642 rs757430180	286	P>H		No	ClinGen ExAC gnomAD
rs757430180 CA5363393	286	P>L		No	ClinGen ExAC gnomAD
rs139799853 CA5363397	287	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs139799853 CA5363396	287	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363395 rs532551428	287	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5363399 rs769328646	288	R>K		No	ClinGen ExAC gnomAD
CA375792270 rs1191498267	290	P>T		No	ClinGen gnomAD
rs1447499486 CA375792286	291	Q>*		No	ClinGen TOPMed gnomAD
rs1447499486 CA375792290	291	Q>E		No	ClinGen TOPMed gnomAD
rs113046870 CA201733663	292	P>A		No	ClinGen Ensembl
CA5363401 rs762294457	292	P>H		No	ClinGen ExAC TOPMed gnomAD
rs762294457 CA5363402	292	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5363403 rs561022064	293	C>G		No	ClinGen ExAC TOPMed gnomAD
rs760439437 CA5363404	293	C>Y		No	ClinGen ExAC gnomAD
CA375792346 rs918529958	294	S>C		No	ClinGen TOPMed
CA201733667 rs918529958	294	S>F		No	ClinGen TOPMed
rs1172660688 CA375792349	295	M>L		No	ClinGen gnomAD
rs765789857 CA5363405	295	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1172660688 CA375792352	295	M>V		No	ClinGen gnomAD
rs190489168 CA5363407	296	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753434366 CA5363406	296	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1564399286 CA375792388	297	H>R		No	ClinGen Ensembl
rs755842966 CA201733718	298	L>F		No	ClinGen TOPMed gnomAD
CA375792404 rs1296357497	298	L>H		No	ClinGen gnomAD
rs755842966 CA201733707	298	L>I		No	ClinGen TOPMed gnomAD
CA5363411 rs149246519	299	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs372245344 CA5363410	299	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs756406377 CA5363413	301	H>R		No	ClinGen ExAC gnomAD
rs750596294 CA5363412	301	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA375792490 rs1564399361	304	D>H		No	ClinGen Ensembl
rs144580113 CA5363415	305	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs111266428 CA375792518	305	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144580113 CA5363416	305	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA201733744 rs894858978	306	A>T		No	ClinGen TOPMed gnomAD
CA201733750 rs1012420787	306	A>V		No	ClinGen gnomAD
CA375792539 rs1564399423	307	S>N		No	ClinGen Ensembl
CA5363418 rs375100594	307	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs142741538 CA5363421	308	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142741538 CA5363420	308	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166257395 CA375792573	309	P>L		No	ClinGen gnomAD
rs1397353586 CA375792578	310	R>C		No	ClinGen gnomAD
rs770659225 CA5363422	310	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775965430 CA5363423 COSM1461346	311	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs759069782 CA5363424	311	R>H		No	ClinGen ExAC gnomAD
rs773940669 CA375792631	313	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5363431 rs756249137	315	E>D		No	ClinGen ExAC gnomAD
CA5363430 rs751408907	315	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5363428 rs747559988 COSM1461348	315	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5363429 rs747559988	315	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA201733797 rs766643195	316	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5363432 rs766643195	316	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1448577630 CA375792682	317	L>V		No	ClinGen gnomAD
CA375792732 rs1170626143	321	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1461350 CA375792740 rs1472481692	322	L>F	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs779205950 CA5363435	323	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5363436 rs145420455	324	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363437 rs758996443	326	E>K		No	ClinGen ExAC gnomAD
CA5363438 rs777971852	326	E>V		No	ClinGen ExAC gnomAD
rs138352598 CA5363441	327	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5363440 rs770443793	327	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5363442 rs745318012	328	E>G		No	ClinGen ExAC gnomAD
CA375792810 rs1348493215	329	K>E		No	ClinGen gnomAD
rs140913853 CA5363445	333	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375792881 rs1436665970	336	A>P		No	ClinGen TOPMed
CA5363447 rs773966598	337	Q>*		No	ClinGen ExAC gnomAD
CA201733880 rs765684308	340	E>G		No	ClinGen TOPMed gnomAD
rs1482151445 CA375792930	342	L>R		No	ClinGen gnomAD
rs558314635 CA5363450	345	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs759900259 CA5363451	346	C>F		No	ClinGen ExAC gnomAD
CA5363452 rs575484976	347	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375792971 rs758793303	348	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5363454 rs758793303	348	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs752867139 CA5363453	348	R>W		No	ClinGen ExAC gnomAD
CA5363455 rs56024747	350	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5363456 rs369635217	350	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA375792980 rs369635217	350	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363457 rs369635217	350	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA375792978 rs56024747	350	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554779061 CA375792997	353	I>V		No	ClinGen Ensembl
CA375793036 rs1208575395	357	L>F		No	ClinGen TOPMed gnomAD
CA5363485 rs772180255	357	L>P		No	ClinGen ExAC gnomAD
CA375793040 rs1285322264	358	C>R		No	ClinGen TOPMed
CA375793043 rs1215976876	358	C>S		No	ClinGen gnomAD
rs1215976876 CA375793042	358	C>Y		No	ClinGen gnomAD
CA5363487 rs746824699	359	D>E		No	ClinGen ExAC gnomAD
rs770085361 CA5363488	361	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5363490 rs763152924	363	T>I		No	ClinGen ExAC gnomAD
rs1162558988 CA375793083	364	A>V		No	ClinGen gnomAD
CA5363492 rs774334714	366	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1318304887 CA375793103	367	I>M		No	ClinGen gnomAD
rs200511758 CA201734123	368	P>L		No	ClinGen TOPMed gnomAD
rs1386659381 CA375793106	368	P>S		No	ClinGen TOPMed gnomAD
CA375793114 rs1296645253	369	P>L		No	ClinGen gnomAD
CA5363493 rs138384572	370	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1293170529 CA375793126	371	Y>C		No	ClinGen gnomAD
CA375793137 rs1186956512	373	L>S		No	ClinGen gnomAD
rs141362766 CA5363496	374	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA375793156 rs1485782695	375	L>F		No	ClinGen gnomAD
CA5363499 rs754640552	377	P>S		No	ClinGen ExAC gnomAD
CA201734168 rs377411514	378	V>I		No	ClinGen ESP TOPMed gnomAD
CA375793206 rs1412579292	379	I>T		No	ClinGen gnomAD
CA5363504 rs371123014	380	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363503 rs371123014	380	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs758365267 CA5363502	380	R>W		No	ClinGen ExAC TOPMed gnomAD
rs757257285 CA5363506	381	P>L	Variant assessed as Somatic; 0.0001443 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs138599616 CA5363505	381	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1394296916 CA375793255	384	F>V		No	ClinGen gnomAD
rs774438084 CA5363509	385	S>F		No	ClinGen ExAC gnomAD
rs761894189 CA5363510	386	I>V		No	ClinGen ExAC gnomAD
CA5363513 rs374525491	387	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA375793296 rs1262086439	387	A>V		No	ClinGen TOPMed gnomAD
CA375793312 rs1284018676	389	S>A		No	ClinGen gnomAD
CA5363514 rs150718423	389	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754623349 CA5363516	390	L>M		No	ClinGen ExAC gnomAD
rs946255710 CA201734426	393	H>Y		No	ClinGen TOPMed
CA201734435 rs1043196942	394	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs149532613 CA5363548	396	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA375793440 rs1348672232	396	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA375793486 rs199703256	399	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs903610165 CA201734474	399	I>S		No	ClinGen TOPMed
rs760157574 CA5363550	401	V>M	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375793528 rs1588814571	403	V>G		No	ClinGen Ensembl
rs770044668 CA5363551	403	V>I		No	ClinGen ExAC gnomAD
CA375793537 rs1588814575	404	V>G		No	ClinGen Ensembl
rs776047364 CA5363552	405	Q>*		No	ClinGen ExAC gnomAD
CA5363553 rs762664126 CA375793578	407	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA5363555 rs763861530	408	T>I		No	ClinGen ExAC gnomAD
rs763861530 CA375793586	408	T>S		No	ClinGen ExAC gnomAD
CA5363556 rs751056010	409	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5363557 rs369970164	409	R>H		No	ClinGen ExAC TOPMed gnomAD
CA375793598 rs369970164	409	R>L		No	ClinGen ExAC TOPMed gnomAD
rs767121229 CA5363558	410	L>F		No	ClinGen ExAC gnomAD
CA375793619 rs1334113095	411	K>R		No	ClinGen TOPMed gnomAD
CA375793626 rs1486208107	412	E>K		No	ClinGen TOPMed gnomAD
CA375793644 rs1188390433	413	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375794543 rs1564400751	414	R>C		No	ClinGen Ensembl
rs147223103 CA5363559	414	R>H		No	ClinGen ESP TOPMed gnomAD
CA5363563 rs140457258	415	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5363562 rs752612187	415	R>W		No	ClinGen ExAC TOPMed gnomAD
rs370769686 CA5363564	418	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs777987621 CA5363566	419	S>F		No	ClinGen ExAC gnomAD
CA5363565 rs758574812	419	S>P		No	ClinGen ExAC TOPMed gnomAD
rs757281146 CA5363568	420	S>F		No	ClinGen ExAC TOPMed gnomAD
rs747046431 CA5363567	420	S>P		No	ClinGen ExAC gnomAD
rs781393448 CA5363569	421	W>C		No	ClinGen ExAC gnomAD
CA375794674 rs1415323317	423	A>S		No	ClinGen gnomAD
rs1206058068 CA375794682	424	S>C		No	ClinGen TOPMed
rs770374729 CA5363571	425	L>R		No	ClinGen ExAC gnomAD
rs775947421 CA5363572	427	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1226043776 CA375794709	429	Q>*		No	ClinGen TOPMed
rs144419667 CA5363599	431	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs759529333 CA5363601	433	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs371990489 CA5363600	433	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs764994802 CA5363602	436	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1588815827 CA375794840	438	V>G		No	ClinGen Ensembl
CA375794838 rs1235034243	438	V>L		No	ClinGen gnomAD
rs757382435 CA5363606	439	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5363607 rs750400712	439	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5363605 rs757382435	439	R>W		No	ClinGen ExAC TOPMed gnomAD
CA375794854 rs1274389346	440	P>A		No	ClinGen gnomAD
rs200464302 CA201734809	442	S>G		No	ClinGen 1000Genomes
rs1212244367 CA375794880	442	S>N		No	ClinGen gnomAD
rs1416506789 CA375794888	442	S>R		No	ClinGen gnomAD
rs1251918598 CA375794897	443	L>P		No	ClinGen gnomAD
CA5363609 rs780338463	444	A>S		No	ClinGen ExAC gnomAD
rs754371438 CA5363610	446	P>A		No	ClinGen ExAC TOPMed gnomAD
rs754371438 CA201734811	446	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1370161006 CA375794933	447	E>K		No	ClinGen gnomAD
CA5363611 rs755577647	448	T>I		No	ClinGen ExAC
rs957491189 CA201734824	449	P>A		No	ClinGen Ensembl
rs991859445 CA201734828	449	P>Q		No	ClinGen TOPMed gnomAD
CA375794967 rs1370810360	450	D>Y		No	ClinGen gnomAD
CA5363612 rs779104868	452	P>T		No	ClinGen ExAC gnomAD
rs748564641 CA5363613	453	V>M		No	ClinGen ExAC gnomAD
CA375795013 rs1445952013 COSM1461352	454	I>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1329593339 CA375795060 COSM1497014	457	G>E	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA5363614 rs771570103	457	G>R		No	ClinGen ExAC gnomAD
CA5363617 rs770418728	460	T>I		No	ClinGen ExAC gnomAD
rs1368940853 CA375795113	462	V>I		No	ClinGen TOPMed
CA375795122 rs897084639	463	A>G		No	ClinGen TOPMed gnomAD
rs1325827236 CA375795118	463	A>T		No	ClinGen gnomAD
rs897084639 COSM1598184 CA201734845	463	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1180586332 CA375795124	464	P>A		No	ClinGen TOPMed
CA375795134 rs1471538818	465	F>L		No	ClinGen TOPMed
CA201734855 rs1022978904	465	F>S		No	ClinGen Ensembl
CA5363620 rs769756549	466	R>*		No	ClinGen ExAC TOPMed gnomAD
CA5363621 rs775100222	466	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762810520 CA5363622	469	I>T		No	ClinGen ExAC TOPMed gnomAD
CA375795158 rs1215152306	470	Q>*		No	ClinGen TOPMed gnomAD
CA375795157 rs1215152306	470	Q>E		No	ClinGen TOPMed gnomAD
rs763860213 CA5363623	470	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA5363624 rs147415363	471	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs981697559 CA201734922	472	R>C		No	ClinGen Ensembl
rs775944305 CA5363627	472	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775944305 CA5363628	472	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5363630 rs779485414	474	A>T		No	ClinGen ExAC gnomAD
rs866634989 CA201734950	475	Q>K		No	ClinGen Ensembl
rs752941083 CA5363631	476	G>D		No	ClinGen ExAC gnomAD
rs1165171506 CA375795193	476	G>S		No	ClinGen gnomAD
CA201734951 rs763185584	477	Q>*		No	ClinGen gnomAD
rs1375397175 CA375795199	477	Q>R		No	ClinGen TOPMed
CA5363648 rs759697399	479	G>E		No	ClinGen ExAC gnomAD
rs758788455 CA5363632	479	G>R		No	ClinGen ExAC gnomAD
rs1287775531 CA375795240	481	F>L		No	ClinGen gnomAD
CA5363650 rs765303728	482	L>F		No	ClinGen ExAC TOPMed
rs1345058372 CA375795247	483	F>V		No	ClinGen gnomAD
CA375795255 rs1227869497	484	F>I		No	ClinGen TOPMed
rs1588817066 CA375795262	484	F>L		No	ClinGen Ensembl
CA375795256 rs1227869497	484	F>L		No	ClinGen TOPMed
CA375795273 rs1327117770	486	C>S		No	ClinGen TOPMed
CA5363652 rs538704364	487	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764489696 CA5363653	487	R>H		No	ClinGen ExAC gnomAD
CA375795296 rs1175470361	488	W>R		No	ClinGen gnomAD
CA5363655 rs552005801	489	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751952473 CA5363654	489	R>W		No	ClinGen ExAC TOPMed gnomAD
CA375795328 rs1382431954	490	D>E		No	ClinGen TOPMed gnomAD
CA375795324 rs1292217303	490	D>G		No	ClinGen TOPMed
rs372068009 CA5363656	490	D>N		No	ClinGen ESP ExAC gnomAD
CA375795334 rs1452585139	491	Q>*		No	ClinGen gnomAD
rs745585461 CA5363657	491	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA5363658 rs755634805	494	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1468022238 CA375795390	495	W>*		No	ClinGen gnomAD
rs1050613809 CA201735100	495	W>*		No	ClinGen TOPMed
rs568835199 CA5363659	496	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs768505498 CA5363661	497	A>G		No	ClinGen ExAC TOPMed gnomAD
rs774660495 CA5363660	497	A>T		No	ClinGen ExAC gnomAD
rs768505498 CA375795419	497	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1368344936 CA375795430	498	E>A		No	ClinGen gnomAD
rs1310950124 CA375795423	498	E>Q		No	ClinGen gnomAD
CA375795443 rs1480595474	499	W>*		No	ClinGen TOPMed
rs202165983 CA201735104	499	W>R		No	ClinGen 1000Genomes
CA375795475 rs1564401721	501	E>D		No	ClinGen Ensembl
CA5363663 rs200746386	501	E>G		No	ClinGen ExAC gnomAD
rs761935197 CA201735124	502	L>M		No	ClinGen TOPMed gnomAD
CA375795481 rs1313509493	502	L>R		No	ClinGen gnomAD
rs761935197 CA375795479	502	L>V		No	ClinGen TOPMed gnomAD
rs771207628 CA5363665	503	E>D		No	ClinGen ExAC gnomAD
rs201283083 CA201735130	505	R>G		No	ClinGen ExAC TOPMed gnomAD
rs142364808 CA5363669	505	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201283083 CA5363668	505	R>W		No	ClinGen ExAC TOPMed gnomAD
rs775472906 CA5363670	506	D>Y		No	ClinGen ExAC gnomAD
rs1050957644 CA201735136	509	T>I		No	ClinGen gnomAD
CA375795575 rs112987747	510	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363671 rs112987747	510	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA201735142 rs998643832	513	A>V		No	ClinGen TOPMed gnomAD
rs757612678 CA5363674	516	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs866758932 CA201735153	516	R>W		No	ClinGen gnomAD
CA5363675 rs767926013	517	E>*		No	ClinGen ExAC gnomAD
rs201288404 CA5363676	517	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1588817751 CA375795665	518	Q>*		No	ClinGen Ensembl
CA5363677 rs755761820	518	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1196442437 CA375795797	519	E>K		No	ClinGen gnomAD
rs1226628233 CA375795822	520	Q>E		No	ClinGen TOPMed
rs62587579 CA5363703 VAR_039010	522	V>I	allele NDOR1*1; shows a decrease in affinity for NADPH and a reduction in ferricyanide reductase activity [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375795873 rs1316261506	523	Y>F		No	ClinGen TOPMed
rs780145910 CA5363705	524	V>M		No	ClinGen ExAC gnomAD
rs370203133 CA5363706	525	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363709 rs762267141	527	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5363708 rs774453843	527	R>W		No	ClinGen ExAC TOPMed gnomAD
rs773564600 CA5363712	529	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773564600 CA5363711	529	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5363710 rs772586457	529	R>W		No	ClinGen ExAC gnomAD
CA375796001 rs1564402128	530	E>D		No	ClinGen Ensembl
CA5363713 rs766831232	530	E>K		No	ClinGen ExAC gnomAD
CA375796006 rs1370782221	531	L>M		No	ClinGen TOPMed
CA375796046 rs1588818521	533	S>A		No	ClinGen Ensembl
CA201735356 rs866000594	533	S>L		No	ClinGen TOPMed gnomAD
CA5363716 rs764812385	535	V>M		No	ClinGen ExAC gnomAD
rs1020253873 CA201735357	537	E>K		No	ClinGen TOPMed gnomAD
rs1020253873 CA375796117	537	E>Q		No	ClinGen TOPMed gnomAD
rs758363231 CA5363718	540	D>E		No	ClinGen ExAC gnomAD
CA5363717 rs752290701	540	D>N		No	ClinGen ExAC gnomAD
rs752290701 CA375796205	540	D>Y		No	ClinGen ExAC gnomAD
CA5363719 rs373025181	541	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377338578 CA201735372	541	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs377338578 CA375796234	541	R>L		No	ClinGen ESP TOPMed gnomAD
rs1468969411 CA375796260	543	G>D		No	ClinGen gnomAD
CA5363720 rs751302579	544	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5363721 rs756999272	544	A>V		No	ClinGen ExAC gnomAD
CA201735383 rs201673229	546	F>I		No	ClinGen TOPMed
CA375796311 rs201673229	546	F>L		No	ClinGen TOPMed
CA5363722 rs781087650	548	L>M		No	ClinGen ExAC gnomAD
rs144474472 CA5363723	548	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA375796453 rs1414967044	550	G>S		No	ClinGen gnomAD
CA375796620 rs368630930	552	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363746 rs368630930	552	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA201735565 rs950918893	553	K>E		No	ClinGen Ensembl
CA5363747 rs75647712	555	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375796699 rs1259106684	556	P>L		No	ClinGen gnomAD
rs1016953303 CA201735579	557	A>T		No	ClinGen gnomAD
CA5363748 rs771503335	557	A>V		No	ClinGen ExAC gnomAD
rs140883906 CA5363751	558	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1475039358 CA375796770	559	V>A		No	ClinGen gnomAD
CA5363753 rs138917451	559	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5363755 rs763478741	560	S>L		No	ClinGen ExAC TOPMed gnomAD
rs763478741 CA5363754	560	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1588819404 CA375796809	561	E>K		No	ClinGen Ensembl
rs767503630 CA5363757	562	A>V		No	ClinGen ExAC TOPMed gnomAD
CA201735667 rs746467033	564	M>I		No	ClinGen Ensembl
rs1163004256 CA375796904	564	M>L		No	ClinGen gnomAD
CA5363759 rs755896139	566	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA201735669 rs770646680	567	F>S		No	ClinGen TOPMed gnomAD
rs1324830698 CA375797067	569	E>G		No	ClinGen gnomAD
rs1588819497 CA375797077	570	E>G		No	ClinGen Ensembl
rs1279441578 CA375797158	571	G>V		No	ClinGen gnomAD
rs752891299 CA5363761	572	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5363762 rs758690252	574	C>S		No	ClinGen ExAC gnomAD
rs777677348 CA5363763	575	S>N		No	ClinGen ExAC gnomAD
CA5363765 rs374144832	576	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA201735682 rs868048923	576	P>T		No	ClinGen Ensembl
rs1044621930 CA201735691	577	D>Y		No	ClinGen gnomAD
CA5363768 rs147972002	578	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5363770 rs748907459	579	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5363772 rs143421840	580	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA201735737 rs143421840	580	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs780639654 CA5363773	580	A>V		No	ClinGen ExAC TOPMed gnomAD
CA861136426 rs1450169838	581	Y>*		No	ClinGen TOPMed
rs760651852 CA5363776	583	A>V		No	ClinGen ExAC TOPMed gnomAD
CA375797374 rs1312443284	584	R>M		No	ClinGen gnomAD
CA5363777 rs766134049	585	L>F		No	ClinGen ExAC gnomAD
rs753667754 CA5363778	586	Q>R		No	ClinGen ExAC gnomAD
rs966232149 CA201735776	589	R>Q		No	ClinGen TOPMed
rs764393903 CA5363780	589	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs867182016 CA201735778	590	R>C		No	ClinGen gnomAD
rs751527648 CA5363781	590	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5363782 rs757354300	591	F>S		No	ClinGen ExAC gnomAD
rs886423449 CA201735793	592	Q>*		No	ClinGen gnomAD
rs1256560424 CA375797512	592	Q>R		No	ClinGen TOPMed gnomAD
CA375797530 rs929705931	593	T>I		No	ClinGen TOPMed
rs929705931 CA201735794	593	T>R		No	ClinGen TOPMed
CA375797535 rs1362317347	594	E>G		No	ClinGen gnomAD
CA5363784 rs750946538	595	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1362603250 CA375797545	596	W>R		No	ClinGen TOPMed gnomAD

No associated diseases with Q9UHB4

13 regional properties for Q9UHB4

Type	Name	Position	InterPro Accession
domain	Flavodoxin-like	7 - 20	IPR001094-1
domain	Flavodoxin-like	55 - 66	IPR001094-2
domain	Flavodoxin-like	89 - 99	IPR001094-3
domain	Flavodoxin-like	113 - 132	IPR001094-4
domain	Oxidoreductase FAD/NAD(P)-binding	455 - 560	IPR001433
domain	Flavoprotein pyridine nucleotide cytochrome reductase	382 - 389	IPR001709-1
domain	Flavoprotein pyridine nucleotide cytochrome reductase	416 - 425	IPR001709-2
domain	Flavoprotein pyridine nucleotide cytochrome reductase	454 - 473	IPR001709-3
domain	Flavoprotein pyridine nucleotide cytochrome reductase	478 - 487	IPR001709-4
domain	Flavoprotein pyridine nucleotide cytochrome reductase	521 - 537	IPR001709-5
domain	Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding	203 - 421	IPR003097
domain	Flavodoxin/nitric oxide synthase	6 - 150	IPR008254
domain	FAD-binding domain, ferredoxin reductase-type	206 - 447	IPR017927

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, perinuclear region	Concentrated in perinuclear structure
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intermediate filament cytoskeleton	Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

10 GO annotations of molecular function

Name	Definition
electron transfer activity	Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient.
FAD binding	Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes.
flavin adenine dinucleotide binding	Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2.
FMN binding	Binding to flavin mono nucleotide. Flavin mono nucleotide (FMN) is the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes.
NADP binding	Binding to nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NADP+, or the reduced form, NADPH.
NADPH binding	Binding to the reduced form, NADPH, of nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions.
NADPH-hemoprotein reductase activity	Catalysis of the reaction: NADPH + H+ + n oxidized hemoprotein = NADP+ + n reduced hemoprotein.
oxidoreductase activity	Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.
oxidoreductase activity, acting on iron-sulfur proteins as donors, NAD or NADP as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which an iron-sulfur protein acts as a hydrogen or electron donor and reduces NAD or NADP.
oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a heme protein.

4 GO annotations of biological process

Name	Definition
cell death	Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538).
cellular response to menadione	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a menadione stimulus. Menadione (also called vitamin K3) is a naphthoquinone having a methyl substituent at the 2-position.
electron transport chain	A process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors.
iron-sulfur cluster assembly	The incorporation of iron and exogenous sulfur into a metallo-sulfur cluster.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q1JPJ0	NDOR1	NADPH-dependent diflavin oxidoreductase 1	Bos taurus (Bovine)	PR
Q9UBK8	MTRR	Methionine synthase reductase	Homo sapiens (Human)	PR
P29474	NOS3	Nitric oxide synthase, endothelial	Homo sapiens (Human)	SS
P29475	NOS1	Nitric oxide synthase, brain	Homo sapiens (Human)	SS
A2AI05	Ndor1	NADPH-dependent diflavin oxidoreductase 1	Mus musculus (Mouse)	PR
Q498R1	Mtrr	Methionine synthase reductase	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MPSPQLLVLF	GSQTGTAQDV	SERLGREARR	RRLGCRVQAL	DSYPVVNLIN	EPLVIFVCAT
70	80	90	100	110	120
TGQGDPPDNM	KNFWRFIFRK	NLPSTALCQM	DFAVLGLGDS	SYAKFNFVAK	KLHRRLLQLG
130	140	150	160	170	180
GSALLPVCLG	DDQHELGPDA	AVDPWLRDLW	DRVLGLYPPP	PGLTEIPPGV	PLPSKFTLLF
190	200	210	220	230	240
LQEAPSTGSE	GQRVAHPGSQ	EPPSESKPFL	APMISNQRVT	GPSHFQDVRL	IEFDILGSGI
250	260	270	280	290	300
SFAAGDVVLI	QPSNSAAHVQ	RFCQVLGLDP	DQLFMLQPRE	PDVSSPTRLP	QPCSMRHLVS
310	320	330	340	350	360
HYLDIASVPR	RSFFELLACL	SLHELEREKL	LEFSSAQGQE	ELFEYCNRPR	RTILEVLCDF
370	380	390	400	410	420
PHTAAAIPPD	YLLDLIPVIR	PRAFSIASSL	LTHPSRLQIL	VAVVQFQTRL	KEPRRGLCSS
430	440	450	460	470	480
WLASLDPGQG	PVRVPLWVRP	GSLAFPETPD	TPVIMVGPGT	GVAPFRAAIQ	ERVAQGQTGN
490	500	510	520	530	540
FLFFGCRWRD	QDFYWEAEWQ	ELEKRDCLTL	IPAFSREQEQ	KVYVQHRLRE	LGSLVWELLD
550	560	570	580	590
RQGAYFYLAG	NAKSMPADVS	EALMSIFQEE	GGLCSPDAAA	YLARLQQTRR	FQTETWA