AiPD: Autoinhibited Protein Database

Q9UNA4

Gene name	POLI (RAD30B)
Protein name	DNA polymerase iota
Names	Eta2, RAD30 homolog B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11201
EC number	2.7.7.7: Nucleotidyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

419-539 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

419-539 (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

47 structures for Q9UNA4

Entry ID	Method	Resolution	Chain	Position	Source
1T3N	X-ray	230 A	A/B	52-439	PDB
1ZET	X-ray	230 A	A	52-439	PDB
2ALZ	X-ray	250 A	A	50-439	PDB
2DPI	X-ray	230 A	A	26-445	PDB
2DPJ	X-ray	230 A	A	26-445	PDB
2FLL	X-ray	260 A	A	26-445	PDB
2FLN	X-ray	250 A	A	26-445	PDB
2FLP	X-ray	240 A	A	26-445	PDB
2KHU	NMR	-	A	697-740	PDB
2KHW	NMR	-	A	697-740	PDB
2KTF	NMR	-	B	704-730	PDB
2L0F	NMR	-	B	699-740	PDB
2L0G	NMR	-	A	704-730	PDB
2MBB	NMR	-	A	516-555	PDB
3EPG	X-ray	250 A	A	26-445	PDB
3EPI	X-ray	290 A	A	26-445	PDB
3G6V	X-ray	220 A	A	26-445	PDB
3G6X	X-ray	208 A	A	26-445	PDB
3G6Y	X-ray	210 A	A	26-445	PDB
3GV5	X-ray	200 A	B/D	26-445	PDB
3GV7	X-ray	220 A	B	26-445	PDB
3GV8	X-ray	200 A	B	26-445	PDB
3H40	X-ray	230 A	A	51-439	PDB
3H4B	X-ray	285 A	A	50-439	PDB
3H4D	X-ray	220 A	A	50-439	PDB
3NGD	X-ray	280 A	A	26-445	PDB
3OSN	X-ray	190 A	A	26-445	PDB
3Q8P	X-ray	195 A	B	26-445	PDB
3Q8Q	X-ray	203 A	B	26-445	PDB
3Q8R	X-ray	245 A	B	26-445	PDB
3Q8S	X-ray	209 A	B	26-445	PDB
4EBC	X-ray	290 A	A	26-445	PDB
4EBD	X-ray	257 A	A	26-445	PDB
4EBE	X-ray	210 A	A	26-445	PDB
4EYH	X-ray	290 A	B	26-445	PDB
4EYI	X-ray	290 A	B	26-445	PDB
4FS1	X-ray	250 A	A	26-445	PDB
4FS2	X-ray	205 A	A	26-445	PDB
5KT2	X-ray	249 A	A	26-445	PDB
5KT3	X-ray	264 A	A	26-445	PDB
5KT4	X-ray	278 A	A	1-445	PDB
5KT5	X-ray	280 A	A	1-445	PDB
5KT6	X-ray	354 A	A	1-445	PDB
5KT7	X-ray	315 A	A	1-445	PDB
5ULW	X-ray	262 A	A	26-445	PDB
5ULX	X-ray	196 A	A	26-445	PDB
AF-Q9UNA4-F1	Predicted				AlphaFoldDB

656 variants for Q9UNA4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1452404711 CA402306915	3	K>*		No	ClinGen TOPMed
rs1393988562 CA402306924	3	K>N		No	ClinGen TOPMed gnomAD
rs1599141571 CA402306937	4	L>R		No	ClinGen Ensembl
CA402306929 rs1161996566	4	L>V		No	ClinGen TOPMed
CA8968113 rs750249590	6	V>G		No	ClinGen ExAC gnomAD
rs767338968 CA8968112	6	V>M		No	ClinGen ExAC TOPMed gnomAD
rs765506494 CA8968115	7	E>A		No	ClinGen ExAC TOPMed gnomAD
CA402306967 rs765506494	7	E>G		No	ClinGen ExAC TOPMed gnomAD
CA8968114 rs755105790	7	E>K		No	ClinGen ExAC TOPMed gnomAD
rs907728575 CA300717724	8	P>A		No	ClinGen TOPMed gnomAD
CA8968117 rs752650771	8	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8968116 rs752650771	8	P>R		No	ClinGen ExAC TOPMed gnomAD
rs907728575 CA402306980	8	P>S		No	ClinGen TOPMed gnomAD
CA402306992 rs768665084	9	E>A		No	ClinGen gnomAD
rs376730732 CA8968118	9	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA402306988 rs376730732	9	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA300717745 rs768665084	9	E>V		No	ClinGen gnomAD
CA402307009 rs1568111929	10	E>A		No	ClinGen Ensembl
CA402307002 rs1264671363	10	E>K		No	ClinGen TOPMed
rs1274778408 CA402307036	11	E>D		No	ClinGen gnomAD
CA300717749 rs371292557	11	E>K		No	ClinGen ESP gnomAD
CA300717762 rs866048412	12	G>E		No	ClinGen Ensembl
CA300717753 rs899800123	12	G>S		No	ClinGen TOPMed gnomAD
rs757874841 CA402307053	13	G>C		No	ClinGen ExAC TOPMed gnomAD
rs757874841 CA8968120	13	G>R		No	ClinGen ExAC TOPMed gnomAD
CA300717786 rs998158002	14	G>C		No	ClinGen TOPMed
CA402307062 rs998158002	14	G>S		No	ClinGen TOPMed
CA300717800 rs78943519	15	D>G		No	ClinGen TOPMed gnomAD
CA402307123 rs1450257843	16	D>E		No	ClinGen TOPMed
CA300717803 rs77607189	17	D>E		No	ClinGen ExAC TOPMed gnomAD
CA300717802 rs1049793809	17	D>H		No	ClinGen TOPMed gnomAD
rs1049793809 CA402307125	17	D>N		No	ClinGen TOPMed gnomAD
rs1197681887 CA402307148	18	E>K		No	ClinGen TOPMed gnomAD
rs775281944 CA8968126	19	E>*		No	ClinGen ExAC gnomAD
rs1210255786 CA402307201	20	D>E		No	ClinGen TOPMed
rs748735279 CA8968127	20	D>G		No	ClinGen ExAC TOPMed gnomAD
CA402307210 rs1467338345	21	A>S		No	ClinGen gnomAD
rs1301338376 CA402307218	21	A>V		No	ClinGen gnomAD
CA300717824 rs1000306180	22	E>Q		No	ClinGen Ensembl
rs761698213 CA8968130	23	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8968131 rs202045769	25	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402307281 rs202045769	25	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760519303 CA8968133	26	M>R		No	ClinGen ExAC TOPMed gnomAD
rs760519303 CA402307293	26	M>T		No	ClinGen ExAC TOPMed gnomAD
CA402307284 rs1331088015	26	M>V		No	ClinGen TOPMed
rs1207528878 CA402307303	27	E>K		No	ClinGen gnomAD
rs774616516 CA300717865	29	A>E		No	ClinGen TOPMed
rs774616516 CA402307341	29	A>V		No	ClinGen TOPMed
rs758380680 CA402307358	30	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1260907098 CA402307362	31	V>M		No	ClinGen TOPMed gnomAD
rs1194337897 CA402307385	32	G>R		No	ClinGen TOPMed gnomAD
CA8968138 rs575201986	33	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402307412 rs1377353888	34	A>T		No	ClinGen gnomAD
rs1466610116 CA402307417	34	A>V		No	ClinGen TOPMed gnomAD
rs1359154544 CA402307450	36	S>N		No	ClinGen gnomAD
rs1359154544 CA402307452	36	S>T		No	ClinGen gnomAD
CA402307474 rs1299368253	37	S>L		No	ClinGen gnomAD
rs200801352 CA300717889	37	S>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1299368253 CA402307476	37	S>W		No	ClinGen gnomAD
CA402307495 rs1208160103	38	Q>H		No	ClinGen TOPMed
rs1217900690 CA402307504	39	G>*		No	ClinGen gnomAD
rs1306643081 CA402307973	40	V>I		No	ClinGen gnomAD
rs1352254116 CA402307994	41	H>R		No	ClinGen TOPMed gnomAD
rs1240329008 CA402308050	45	L>S		No	ClinGen gnomAD
rs766411249 CA8968150	49	N>D		No	ClinGen ExAC gnomAD
CA402308115 rs770802279	50	A>D		No	ClinGen ExAC gnomAD
CA8968151 rs760371141	50	A>S		No	ClinGen ExAC gnomAD
CA8968152 rs770802279	50	A>V		No	ClinGen ExAC gnomAD
rs776323717 CA8968153	51	S>L		No	ClinGen ExAC gnomAD
rs1251536797 CA402308148	53	R>G		No	ClinGen TOPMed gnomAD
CA300719094 rs1049371193	54	V>A		No	ClinGen TOPMed
rs945167625 CA300719099	55	I>V		No	ClinGen gnomAD
rs1195671730 CA402308239	59	D>N		No	ClinGen gnomAD
TCGA novel	60	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763190230 CA8968155	63	F>L		No	ClinGen ExAC gnomAD
rs1179390640 CA402308333	64	Y>C		No	ClinGen gnomAD
rs1410762204 CA402308346	65	A>T		No	ClinGen gnomAD
CA8968156 rs764428002	66	Q>*		No	ClinGen ExAC gnomAD
rs139346720 CA8968160	70	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs139346720 CA8968159	70	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs750988856 CA300719140	71	S>*		No	ClinGen ExAC TOPMed gnomAD
rs750988856 CA8968161	71	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8968164 rs754176652	75	L>P		No	ClinGen ExAC gnomAD
rs780423474 CA8968163	75	L>V		No	ClinGen ExAC gnomAD
CA402308511 rs1376385648	76	K>E		No	ClinGen gnomAD
CA300719178 rs906264722	77	D>G		No	ClinGen gnomAD
TCGA novel	77	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490486694 CA402308582	79	P>L		No	ClinGen TOPMed gnomAD
rs1423301648 CA402308991	81	G>A		No	ClinGen TOPMed gnomAD
CA402308605 rs1323223129	81	G>R		No	ClinGen gnomAD
CA402308995 rs1456294377	82	V>I		No	ClinGen TOPMed
CA8968183 rs754164062	83	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8968184 rs764852630	84	Q>*		No	ClinGen ExAC gnomAD
CA8968185 rs376609347	85	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8968186 rs758080830	86	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs746519196 CA8968188	91	C>*		No	ClinGen ExAC gnomAD
CA300720830 rs914158600	92	N>I		No	ClinGen TOPMed
rs781058486 CA8968190	93	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs757155978 CA8968189	93	Y>N		No	ClinGen ExAC
VAR_021239 CA8968191 rs3218778	96	R>G	large decrease in catalytic activity efficiency which is partially rescued by the presence of Mn(2+) instead Mg(2+) [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs769761487 CA402309110	99	G>A		No	ClinGen ExAC TOPMed gnomAD
rs769761487 CA8968192	99	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1350178824 CA402309121	101	K>R		No	ClinGen gnomAD
rs774685817 CA8968194	102	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1263111581 CA402309133	103	L>V		No	ClinGen gnomAD
rs200195344 CA8968196	104	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1195839931 CA402309140	104	M>L		No	ClinGen gnomAD
rs1039348465 CA402309142	104	M>R		No	ClinGen TOPMed gnomAD
rs1039348465 CA300720880	104	M>T		No	ClinGen TOPMed gnomAD
rs773284925 CA8968197	108	D>G		No	ClinGen ExAC gnomAD
TCGA novel	108	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402309191 rs1157967866	111	E>G		No	ClinGen gnomAD
CA402309189 rs1417324341	111	E>Q		No	ClinGen gnomAD
rs1361152681 CA402309196	112	K>E		No	ClinGen gnomAD
rs1402213666 CA402309201	112	K>N		No	ClinGen gnomAD
CA402309195 rs1361152681	112	K>Q		No	ClinGen gnomAD
rs1321388648 CA402309218	115	Q>*		No	ClinGen TOPMed gnomAD
rs1321388648 CA402309217	115	Q>E		No	ClinGen TOPMed gnomAD
CA402309220 rs1379510260	115	Q>P		No	ClinGen TOPMed
CA402309226 rs760675576	116	L>V		No	ClinGen ExAC gnomAD
CA8968199 rs142974796	117	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142974796 CA402309232	117	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs777058525 CA8968200	118	L>*		No	ClinGen ExAC gnomAD
CA8968201 rs759868851	119	V>I		No	ClinGen ExAC gnomAD
CA8968202 rs765626984	121	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8968204 rs757990952	125	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8968205 rs369815747	126	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs759745970 CA8968206	126	R>H		No	ClinGen ExAC TOPMed gnomAD
CA300720928 rs759745970	126	R>P		No	ClinGen ExAC TOPMed gnomAD
rs369815747 CA300720913	126	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA300720934 rs866636393 COSM2879881	127	Y>C	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1568118621 CA402309303	129	E>K		No	ClinGen Ensembl
CA402309315 rs1455248952	130	M>I		No	ClinGen gnomAD
CA8968212 rs779943564	130	M>K		No	ClinGen ExAC gnomAD
CA8968213 rs779943564	130	M>T		No	ClinGen ExAC gnomAD
rs151128120 CA8968211	130	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8968214 rs772269604	132	Y>C		No	ClinGen ExAC gnomAD
CA8968215 rs773373846	133	K>E		No	ClinGen ExAC gnomAD
CA300720991 rs878959231	135	T>I		No	ClinGen Ensembl
TCGA novel	136	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487952694 CA402309348	136	E>K		No	ClinGen TOPMed gnomAD
CA8968231 rs780144134	139	E>G		No	ClinGen ExAC TOPMed gnomAD
CA402309494 rs139836620	140	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8968233 rs754783676	142	S>I		No	ClinGen ExAC gnomAD
rs375226021 CA8968234	142	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8968235 rs554252419	143	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402309564 rs1190005791	147	R>I		No	ClinGen gnomAD
CA402309577 rs1421127964	148	L>R		No	ClinGen gnomAD
TCGA novel	149	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8968236 rs771213123	150	F>V		No	ClinGen ExAC gnomAD
CA402309615 rs1436802335	152	E>K		No	ClinGen TOPMed
CA402309651 rs1373913311	155	V>M		No	ClinGen gnomAD
CA402309683 rs1463569629	158	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	159	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1401625427 CA402309702	159	E>G		No	ClinGen gnomAD
rs1415886254 CA402309717	160	M>I		No	ClinGen gnomAD
CA300722930 rs878918641	161	V>A		No	ClinGen Ensembl
CA300722937 rs143166193	164	R>S		No	ClinGen ESP TOPMed gnomAD
CA8968238 rs745954398	165	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8968240 rs572459890	167	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs572459890 CA8968239	167	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8968242 rs146652056	168	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	172	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140298800 CA8968245 COSM365721	175	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA402309892 rs1568122709	177	T>S		No	ClinGen Ensembl
rs749884527 CA8968247	178	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8968248 rs142549889	179	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA402309907 rs1191856274	179	S>P		No	ClinGen TOPMed
rs1202898762 CA402309915	180	G>R		No	ClinGen TOPMed
CA402309928 rs1341256741	181	H>L		No	ClinGen TOPMed
rs753764414 CA8968250	181	H>Y		No	ClinGen ExAC gnomAD
CA8968251 rs150991803	184	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA402309955 rs150991803	184	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs778530301 CA8968252	184	N>K		No	ClinGen ExAC
rs752557345 CA300723063	186	Q>*		No	ClinGen ExAC gnomAD
CA8968253 rs752557345	186	Q>E		No	ClinGen ExAC gnomAD
rs1309065928 CA402297538	188	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200895161 CA300694635	189	N>K		No	ClinGen 1000Genomes gnomAD
rs750688194 CA8968274	190	L>V		No	ClinGen ExAC TOPMed gnomAD
CA300694640 rs960813456	191	L>F		No	ClinGen Ensembl
CA8968275 rs756364130	192	D>V		No	ClinGen ExAC gnomAD
CA8968276 rs140364196	193	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA402297581 rs1178271624	195	H>Y		No	ClinGen gnomAD
rs367942007 CA8968279	196	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA402297591 rs1599185141	196	I>T		No	ClinGen Ensembl
rs1410871595 CA402297588	196	I>V		No	ClinGen gnomAD
CA8968281 rs772609971	203	Q>L		No	ClinGen ExAC gnomAD
rs770728932 CA8968284	204	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8968283 rs746619873	204	I>S		No	ClinGen ExAC gnomAD
rs772968163 CA8968282	204	I>V		No	ClinGen ExAC gnomAD
rs562481498 CA402297642	205	A>P		No	ClinGen TOPMed
rs562481498 CA300694724	205	A>T		No	ClinGen TOPMed
rs1468541359 CA402297657	207	E>G		No	ClinGen Ensembl
CA8968285 rs775944642	208	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8968287 rs370713519	209	R>Q		No	ClinGen ESP ExAC gnomAD
CA8968286 rs759154060	209	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs974334753 CA300694765	211	A>V		No	ClinGen gnomAD
CA402297688 rs1293643395	212	M>I		No	ClinGen gnomAD
rs775547733 CA300694776 CA8968289	212	M>L		No	ClinGen ExAC gnomAD
rs775547733 CA8968288	212	M>V		No	ClinGen ExAC gnomAD
rs763840371 CA8968291	214	N>K		No	ClinGen ExAC gnomAD
rs1437298734 CA402297728	218	L>F		No	ClinGen gnomAD
CA8968293 rs756274348	219	T>A		No	ClinGen ExAC gnomAD
CA402297740 rs1235070374	220	G>C		No	ClinGen gnomAD
rs1176853377 CA402297741	220	G>D		No	ClinGen TOPMed gnomAD
rs1176853377 CA402297743	220	G>V		No	ClinGen TOPMed gnomAD
rs1599185754 CA402297751	221	C>W		No	ClinGen Ensembl
rs766626634 CA8968294	222	A>T		No	ClinGen ExAC gnomAD
rs1476394018 CA402297756	222	A>V		No	ClinGen gnomAD
rs753854966 CA8968295	223	G>E		No	ClinGen ExAC gnomAD
CA300694824 rs1027813348	224	V>L		No	ClinGen TOPMed
CA402297768 rs1418425683	225	A>P		No	ClinGen gnomAD
CA8968296 rs755139734	226	S>F		No	ClinGen ExAC gnomAD
rs1217696003 CA402297781	227	N>D		No	ClinGen TOPMed
TCGA novel	227	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8968297 rs200234897	228	K>I		No	ClinGen 1000Genomes ExAC gnomAD
rs759003923 CA8968300	231	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1357123491 CA402297869	234	V>I		No	ClinGen gnomAD
TCGA novel	239	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8968303 rs747390462	240	P>S		No	ClinGen ExAC gnomAD
rs747390462 CA402297949	240	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770704738 CA8968304	241	N>H		No	ClinGen ExAC gnomAD
rs1345835090 CA402297983	242	Q>P		No	ClinGen TOPMed gnomAD
rs1345835090 CA402297985	242	Q>R		No	ClinGen TOPMed gnomAD
rs138927242 CA8968308	243	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs138927242 CA8968307	243	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs138927242 CA402297999	243	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA402298001 rs1486851739	243	Q>P		No	ClinGen TOPMed gnomAD
CA402298003 rs1486851739	243	Q>R		No	ClinGen TOPMed gnomAD
rs762831996 CA8968310	244	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8968312 rs774067689	245	V>D		No	ClinGen ExAC gnomAD
CA8968313 rs761661193	248	P>S		No	ClinGen ExAC gnomAD
rs766493497 CA8968314	249	E>G		No	ClinGen ExAC TOPMed gnomAD
rs766493497 CA402298085	249	E>V		No	ClinGen ExAC TOPMed gnomAD
rs754135350 CA8968315	250	S>G		No	ClinGen ExAC TOPMed gnomAD
CA402298131 rs1425163494	252	Q>K		No	ClinGen TOPMed
rs1326825767 CA402298171	253	H>P		No	ClinGen gnomAD
CA402298184 rs1431680825	253	H>Q		No	ClinGen gnomAD
rs759498532 CA8968316	253	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs557847970 CA8968317	254	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1337863525 CA402298209	255	I>T		No	ClinGen TOPMed gnomAD
rs200319776 CA8968318	256	H>R		No	ClinGen ExAC TOPMed gnomAD
CA402298222 rs1406349469	256	H>Y		No	ClinGen TOPMed gnomAD
CA300694977 rs943801892	260	H>D		No	ClinGen Ensembl
rs76578033 CA8968322	261	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_021240 CA8968324 rs3218784	261	I>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8968323 rs76578033	261	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402298400 rs1322772352	264	I>V		No	ClinGen TOPMed
rs1254269812 CA402299073	266	G>V		No	ClinGen gnomAD
CA8968339 rs763185207	269	Y>C		No	ClinGen ExAC gnomAD
CA402299099 rs1465337366	269	Y>D		No	ClinGen TOPMed
rs1378028261 CA402299121	270	K>E		No	ClinGen TOPMed
CA402299163 rs1195377795	273	K>E		No	ClinGen TOPMed
CA300696644 rs951926982	274	C>Y		No	ClinGen Ensembl
TCGA novel	275	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402299212 rs1180994016	275	L>R		No	ClinGen gnomAD
CA300696671 rs3218783	276	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8968340 VAR_021241 rs3218783	276	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3218783 CA300696656	276	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402299238 rs1161287517	277	A>E		No	ClinGen gnomAD
rs752153501 CA8968341	277	A>T		No	ClinGen ExAC gnomAD
rs757736389 CA8968342	279	G>A		No	ClinGen ExAC TOPMed gnomAD
rs757736389 CA300696688	279	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1197007819 CA402299256	279	G>R		No	ClinGen gnomAD
rs757736389 CA402299261	279	G>V		No	ClinGen ExAC TOPMed gnomAD
rs958218207 CA300696717	280	I>F		No	ClinGen TOPMed gnomAD
CA402299285 rs1396707520	281	N>S		No	ClinGen TOPMed gnomAD
rs369229520 CA300696723	282	S>T		No	ClinGen ESP TOPMed gnomAD
CA8968343 rs781575593	284	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201346546 CA8968344 COSM473912	284	R>H	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8968345 rs200692792	285	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402299347 rs200692792	285	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1334623440 CA402299377	286	L>R		No	ClinGen gnomAD
rs143700892 CA8968349	289	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402299418 rs1336866899	289	F>Y		No	ClinGen gnomAD
CA8968352 rs773001933	291	P>L		No	ClinGen ExAC gnomAD
CA402299442 rs148150744	291	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8968351 rs148150744	291	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1402580851 CA402299509	295	E>*		No	ClinGen TOPMed
CA8968353 rs746783214	295	E>G		No	ClinGen ExAC TOPMed gnomAD
CA300696822 rs926230625	297	E>G		No	ClinGen gnomAD
rs770049782 CA8968354	297	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	297	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402299573 rs1420353273	298	L>*		No	ClinGen gnomAD
CA8968356 rs763095336	303	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8968357 rs764229888	303	A>V		No	ClinGen ExAC gnomAD
CA8968358 rs774599762	304	Q>R		No	ClinGen ExAC gnomAD
CA300696859 rs376585554	305	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8968360 COSM3403564 rs146107490	305	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs376585554 CA8968359	305	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756490660 CA8968362	307	Q>E		No	ClinGen ExAC gnomAD
CA402299695 rs1234706811	307	Q>R		No	ClinGen TOPMed
rs1226281110 CA402299716	308	K>N		No	ClinGen gnomAD
CA402299702 rs1324364295	308	K>Q		No	ClinGen gnomAD
CA402299790 rs1599196082	311	F>L		No	ClinGen Ensembl
rs765990947 CA8968364	313	E>G		No	ClinGen ExAC gnomAD
TCGA novel	313	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300696904 rs199780326	314	D>G		No	ClinGen 1000Genomes
rs112212191 CA8968365	315	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402299886 rs1279608354	315	N>K		No	ClinGen gnomAD
rs1442078526 CA402299902	317	P>A		No	ClinGen TOPMed
rs754652473 CA8968366	317	P>R		No	ClinGen ExAC TOPMed gnomAD
CA402299913 rs1189845602	318	V>L		No	ClinGen gnomAD
rs747625032 CA8968368	319	I>L		No	ClinGen ExAC gnomAD
CA300696952 rs1045906613	323	P>S		No	ClinGen gnomAD
rs777636299 CA8968370	324	P>L		No	ClinGen ExAC gnomAD
CA8968390 rs781076506	327	F>V		No	ClinGen ExAC gnomAD
rs1236315095 CA402300583	328	S>G		No	ClinGen gnomAD
rs1304867859 CA402300634	331	D>Y		No	ClinGen TOPMed gnomAD
rs939067012 CA300697806	332	S>*		No	ClinGen TOPMed gnomAD
CA300697819 rs769300610	333	F>L		No	ClinGen gnomAD
CA402300674 rs1466392528	333	F>S		No	ClinGen gnomAD
CA402300685 rs1212081170	334	K>*		No	ClinGen gnomAD
rs1391632503 CA402300695	334	K>N		No	ClinGen TOPMed
CA402300715 rs1490322557	335	K>T		No	ClinGen gnomAD
rs1252391082 CA402300726	336	C>R		No	ClinGen gnomAD
CA402300772 rs768997528	337	S>*		No	ClinGen ExAC TOPMed gnomAD
rs768997528 CA8968392	337	S>L		No	ClinGen ExAC TOPMed gnomAD
CA402300854 rs1200813312	341	E>K		No	ClinGen gnomAD
CA300697843 rs887248370	343	K>E		No	ClinGen TOPMed
rs371749193 CA8968394	345	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8968395 rs772081422	346	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1160233363 CA402301014	347	E>*		No	ClinGen gnomAD
TCGA novel	347	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459491242 CA402301054	350	L>F		No	ClinGen gnomAD
CA8968396 rs773368468	350	L>R		No	ClinGen ExAC TOPMed gnomAD
CA402301067 rs1175497006	351	A>S		No	ClinGen TOPMed
rs1394569008 CA402301075	352	S>G		No	ClinGen gnomAD
rs761117831 CA8968397	354	L>S		No	ClinGen ExAC TOPMed gnomAD
CA300697877 rs997380314	356	R>K		No	ClinGen Ensembl
rs1184409411 CA402301419	357	V>I		No	ClinGen gnomAD
rs1418092065 CA402301431	358	C>*		No	ClinGen gnomAD
rs1002797739 CA402301440	359	Q>H		No	ClinGen TOPMed
rs1428652339 CA402301445	360	D>G		No	ClinGen gnomAD
CA402301449 rs1397898737	361	G>R		No	ClinGen gnomAD
CA402301471 rs1373598018	364	P>T		No	ClinGen TOPMed gnomAD
rs777178383 CA8968418	365	H>P		No	ClinGen ExAC TOPMed gnomAD
CA402301480 rs777178383	365	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1313207339 CA402301489	366	T>I		No	ClinGen gnomAD
rs759870785 CA8968419	367	V>M		No	ClinGen ExAC gnomAD
CA402301510 rs1450401131	370	I>V		No	ClinGen gnomAD
rs770016097 CA8968420	371	I>V		No	ClinGen ExAC gnomAD
COSM3378521 CA8968421 rs775948243	372	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA300701364 rs950431386 COSM988965	372	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA300701389 rs969095032 COSM1564031	373	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs762455538 CA8968422	373	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8968423 rs763812308	374	Y>C		No	ClinGen ExAC gnomAD
rs11558769 CA300701392	374	Y>N		No	ClinGen Ensembl
rs375842301 CA8968424	377	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA300701417 rs995566528	378	K>R		No	ClinGen Ensembl
CA402301562 rs1213192407	379	H>D		No	ClinGen TOPMed gnomAD
rs750423750 CA402301567	379	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8968426 rs767543790	379	H>R		No	ClinGen ExAC gnomAD
CA402301563 rs1213192407	379	H>Y		No	ClinGen TOPMed gnomAD
rs139074828 CA8968429	380	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs756150056 CA8968428	380	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs758482798 CA8968431	381	G>D		No	ClinGen ExAC gnomAD
CA8968432 rs149914424	382	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747076292 CA8968433	382	R>H		No	ClinGen ExAC TOPMed gnomAD
CA402301589 rs35602237	383	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8968435 rs781282688	384	S>N		No	ClinGen ExAC gnomAD
rs371876172 CA8968436 COSM1666295	385	R>C	eye [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs923910739 CA300701495	385	R>H		No	ClinGen TOPMed gnomAD
CA300701503 rs376491192	386	Q>R		No	ClinGen ESP TOPMed gnomAD
CA8968437 rs192363974	389	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200852409 CA402301632	390	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8968438 rs200852409	390	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402301631 rs1276020189	390	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8968439 rs749731969	391	S>*		No	ClinGen ExAC TOPMed gnomAD
rs749731969 CA8968440	391	S>L		No	ClinGen ExAC TOPMed gnomAD
rs774198773 CA402301644	392	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA402301646 rs1465027468	393	V>I		No	ClinGen gnomAD
rs1362406144 CA402301711	398	G>E		No	ClinGen TOPMed
TCGA novel	400	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	401	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402303030 rs1181006693	402	Y>C		No	ClinGen gnomAD
CA300705601 rs1018644890	404	V>M		No	ClinGen TOPMed
CA8968455 rs756576246	406	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8968454 rs756576246	406	T>N		No	ClinGen ExAC TOPMed gnomAD
rs200028845 CA8968456	407	P>S		No	ClinGen ExAC TOPMed gnomAD
CA402303065 rs759284982	408	M>L		No	ClinGen ExAC gnomAD
rs759284982 CA8968457	408	M>V		No	ClinGen ExAC gnomAD
rs976356228 CA300705641	409	V>I		No	ClinGen TOPMed gnomAD
rs747751817 CA8968460	410	D>E		No	ClinGen ExAC
rs556632345 CA8968459	410	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402303089 rs1328851696	411	I>M		No	ClinGen gnomAD
CA8968461 rs771859557	411	I>T		No	ClinGen ExAC gnomAD
TCGA novel	411	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8968463 rs148677085	413	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8968462 rs772777726	413	M>V		No	ClinGen ExAC gnomAD
rs56152401 COSM417818 CA8968466	417	R>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs113888456 CA402303127	417	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113888456 CA8968467	417	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	419	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761958015 CA8968469	419	M>T		No	ClinGen ExAC TOPMed gnomAD
rs142168361 CA8968468	419	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8968471 rs750459725	422	V>A		No	ClinGen ExAC gnomAD
rs756269299 CA8968472	423	K>R		No	ClinGen ExAC gnomAD
CA402303175 rs780398295 CA8968473	424	M>I		No	ClinGen ExAC TOPMed gnomAD
rs775072868 CA300705780	425	P>Q		No	ClinGen Ensembl
rs1370260238 CA402303199	428	L>V		No	ClinGen gnomAD
rs1371772039 CA402303212	430	L>F		No	ClinGen gnomAD
rs748525170 CA8968477	431	L>P		No	ClinGen ExAC gnomAD
CA402303227 rs1314502017	432	S>R		No	ClinGen gnomAD
rs372676343 CA8968479	433	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs746476653 CA8968480	437	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1026444367 CA300705857	438	L>F		No	ClinGen Ensembl
CA300705866 rs936190911	439	K>N		No	ClinGen TOPMed gnomAD
CA8968481 rs770514079	439	K>R		No	ClinGen ExAC gnomAD
rs1568141236 CA402303279	440	A>G		No	ClinGen Ensembl
CA402303289 rs1279251949	442	N>T		No	ClinGen TOPMed gnomAD
CA402303302 rs1483460342	444	A>S		No	ClinGen gnomAD
CA300705872 rs376941412	445	K>T		No	ClinGen ESP gnomAD
CA8968483 rs759460946	447	G>R		No	ClinGen ExAC gnomAD
rs769727985 CA8968484	449	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8968485 rs775262251	450	D>H		No	ClinGen ExAC gnomAD
rs371538130 CA8968487	451	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA402303347 rs1599237150	451	Y>D		No	ClinGen Ensembl
rs767707112 CA8968489 CA8968488	454	M>I		No	ClinGen ExAC gnomAD
TCGA novel	455	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300705918 rs528723924	456	S>L		No	ClinGen Ensembl
CA8968491 rs145324633	459	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753873120 CA8968492	459	T>I		No	ClinGen ExAC gnomAD
CA8968493 rs755467839	460	T>I		No	ClinGen ExAC gnomAD
rs1568141481 CA402303467	461	S>T		No	ClinGen Ensembl
CA8968494 rs779627983	462	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201315797 CA8968495	462	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA402303491 rs201315797	462	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8968498 rs746632668	463	S>C		No	ClinGen ExAC
rs777260512 CA8968497	463	S>P		No	ClinGen ExAC gnomAD
CA402303512 rs1235209162	464	G>C		No	ClinGen gnomAD
rs1258766659 CA402303514	464	G>D		No	ClinGen gnomAD
CA8968499 rs770503431	466	H>L		No	ClinGen ExAC TOPMed gnomAD
CA300705972 rs964434684	466	H>Y		No	ClinGen Ensembl
rs1208352326 CA402303554	467	S>G		No	ClinGen gnomAD
TCGA novel	467	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780687003 CA8968500	468	F>C		No	ClinGen ExAC gnomAD
CA8968522 rs755664692	470	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8968523 rs200144217	472	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1280659440 CA402304617	472	D>G		No	ClinGen gnomAD
CA8968524 rs749179224	473	T>S		No	ClinGen ExAC gnomAD
rs1201113809 CA402304637	474	H>D		No	ClinGen TOPMed
VAR_021242 rs3730823 CA8968525	474	H>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1250751388 CA402304737	478	F>S		No	ClinGen TOPMed
rs1410250230 CA402304733	478	F>V		No	ClinGen gnomAD
rs774125458 CA8968526	479	P>A		No	ClinGen ExAC gnomAD
CA402304758 rs1231718314	480	K>E		No	ClinGen gnomAD
CA402304762 rs1312010762	480	K>T		No	ClinGen gnomAD
rs1322418458 CA402304773	481	D>H		No	ClinGen gnomAD
CA8968528 rs771168096	483	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775065553 CA8968530	486	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201817534 CA8968529	486	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1206254522 CA402304840	487	D>N		No	ClinGen gnomAD
CA402304975 rs1473985241	496	S>G		No	ClinGen gnomAD
CA402304974 rs1473985241	496	S>R		No	ClinGen gnomAD
rs1180938946 CA402304989	497	T>A		No	ClinGen gnomAD
CA8968532 rs775732957	498	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8968533 rs147885622	498	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1410814505 CA402305018 COSM1162025	500	R>K	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1410814505 CA402305020	500	R>T		No	ClinGen TOPMed
rs371061336 CA402305029	501	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8968536 rs757611957	501	E>G		No	ClinGen ExAC gnomAD
rs371061336 CA8968535	501	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs371061336 CA8968534	501	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA402305041 rs767170410	502	S>A		No	ClinGen ExAC TOPMed gnomAD
CA8968537 rs767170410	502	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1309578137 CA402305055	503	P>Q		No	ClinGen gnomAD
rs750040594 CA8968538	504	L>P		No	ClinGen ExAC gnomAD
CA402305082 rs1244399482	505	D>E		No	ClinGen TOPMed gnomAD
CA8968539 rs755789604	507	T>I		No	ClinGen ExAC gnomAD
rs779484726 CA402305108	508	N>D		No	ClinGen ExAC TOPMed gnomAD
rs779484726 CA8968540	508	N>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA300707345 rs551675301	511	K>E		No	ClinGen 1000Genomes
rs754935014 CA8968542	514	D>H		No	ClinGen ExAC gnomAD
CA402305222 rs1476348755	515	I>S		No	ClinGen Ensembl
COSM709351 rs778771682 CA8968543	515	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA402305280 rs1277142233	519	P>S		No	ClinGen TOPMed gnomAD
CA300707418 rs996731969	520	L>F		No	ClinGen Ensembl
CA8968548 rs375157241	523	L>V		No	ClinGen ESP ExAC gnomAD
CA300707460 rs867445784	525	E>*		No	ClinGen TOPMed gnomAD
TCGA novel	526	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389044611 CA402305447	528	D>E		No	ClinGen gnomAD
CA402305478 rs1205664366	530	E>Q		No	ClinGen TOPMed
CA8968549 rs770152829	531	V>A		No	ClinGen ExAC gnomAD
rs55920515 CA300707488	532	F>L		No	ClinGen ExAC gnomAD
CA8968550 rs3218786 VAR_021243	532	F>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA402305545 rs1413762335	533	K>E		No	ClinGen gnomAD
CA402305577 rs1599245296	534	Q>L		No	ClinGen Ensembl
rs1333713430 CA402305591	535	L>F		No	ClinGen gnomAD
CA8968552 rs769186379	536	P>L		No	ClinGen ExAC TOPMed gnomAD
CA402305607 rs1267737699	536	P>T		No	ClinGen TOPMed
CA402305677 rs762417531	539	I>S		No	ClinGen ExAC gnomAD
rs762417531 CA8968554	539	I>T		No	ClinGen ExAC gnomAD
CA8968553 rs774762752	539	I>V		No	ClinGen ExAC gnomAD
TCGA novel	541	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767728764 CA8968555	541	E>K		No	ClinGen ExAC gnomAD
CA8968556 rs150441237	543	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8968557 rs200169886	544	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200169886 CA300707521	544	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8968558 rs138217642	544	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8968559 rs753330863	545	S>P		No	ClinGen ExAC gnomAD
CA402305897 rs754491770	547	K>N		No	ClinGen ExAC TOPMed gnomAD
COSM1177680 rs778876685 CA8968561	550	E>G	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8968562 rs546672290	552	F>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	556	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300707564 rs957130077	557	S>G		No	ClinGen TOPMed gnomAD
CA402306122 rs1414191197	559	S>I		No	ClinGen Ensembl
CA8968566 rs149577277	560	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs3218787 CA8968565 VAR_021244	560	C>R		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA8968568 rs749358981	563	H>Q		No	ClinGen ExAC gnomAD
rs780473580 CA8968567	563	H>R		No	ClinGen ExAC TOPMed gnomAD
CA402306194 rs768581665	565	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8968569 rs768581665	565	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8968572 rs567807681	568	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8968573 rs567807681	568	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8968571 rs762173259	568	V>I		No	ClinGen ExAC gnomAD
CA402306259 rs1323115199	570	S>P		No	ClinGen gnomAD
rs761082777 CA8968574	571	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1329804485 CA402306274	571	F>L		No	ClinGen gnomAD
CA300707638 rs765990972	572	F>C		No	ClinGen ExAC gnomAD
rs765990972 CA8968575	572	F>S		No	ClinGen ExAC gnomAD
CA402306304 rs1216711247	574	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1448992246 CA402306310	574	K>I		No	ClinGen TOPMed
rs1329698192 CA402306322	575	K>E		No	ClinGen gnomAD
CA300707654 rs949661979	575	K>T		No	ClinGen TOPMed gnomAD
CA8968576 rs199674410	577	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA300707655 rs1045269448	577	M>V		No	ClinGen Ensembl
rs368135988 CA8968577	578	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8968579 rs752264918	579	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1450898711 CA402306401	580	I>T		No	ClinGen TOPMed gnomAD
CA402306406 rs1432374662	581	P>S		No	ClinGen TOPMed
rs553872743 CA8968580	582	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA402306449 rs145116015	584	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8968581 rs145116015	584	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs539473192 CA8968582	586	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1322545880 CA402306483	587	H>P		No	ClinGen TOPMed
rs1180251868 CA402306510	589	S>Y		No	ClinGen gnomAD
CA8968583 rs757159489	593	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	594	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300707706 rs185500760	595	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs185500760 CA8968584	595	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs543509008 CA8968585	597	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402306631 rs1405229977	598	S>C		No	ClinGen TOPMed gnomAD
CA402306632 rs1405229977	598	S>F		No	ClinGen TOPMed gnomAD
CA8968588 rs200314275	602	P>L		No	ClinGen ExAC gnomAD
CA402306702 rs1194737015	603	G>A		No	ClinGen gnomAD
TCGA novel	606	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402306732 rs1599246684	606	G>R		No	ClinGen Ensembl
CA8968591 rs773753364	610	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1476482723 CA402306804	611	S>R		No	ClinGen TOPMed
TCGA novel	614	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402306841 rs1355113323	614	Y>H		No	ClinGen gnomAD
rs1250670302 CA402306869	615	M>I		No	ClinGen TOPMed gnomAD
CA300707732 rs900963261	615	M>R		No	ClinGen TOPMed
rs747340287 CA8968592	617	S>T		No	ClinGen ExAC TOPMed gnomAD
CA8968593 rs138942429	618	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs138562746 CA8968594	619	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764946326 CA8968596	623	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA402307081 rs1473001896	624	Y>C		No	ClinGen gnomAD
rs1364960881 CA402307115	626	D>G		No	ClinGen TOPMed
CA300707794 rs1051886120	626	D>Y		No	ClinGen TOPMed gnomAD
rs1366782526 CA402307138	627	N>S		No	ClinGen gnomAD
CA402307154 rs1245635181	628	R>*		No	ClinGen Ensembl
rs774850561 CA8968597	629	L>S		No	ClinGen ExAC gnomAD
CA8968598 rs762574854	631	D>G		No	ClinGen ExAC gnomAD
rs768095430 CA8968599	633	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8968600 rs751503957	633	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs543695647 CA8968601	634	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs776066395 CA300707832	636	Q>P		No	ClinGen TOPMed
rs1411267287 CA402307348	637	G>R		No	ClinGen TOPMed gnomAD
CA402307379 rs1331873030	638	P>R		No	ClinGen gnomAD
TCGA novel	641	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599247427 CA402307477	643	G>E		No	ClinGen Ensembl
CA8968603 rs750240614	645	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1355058650 CA402307535	646	F>L		No	ClinGen TOPMed
CA8968606 rs370262475	650	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs758510587 CA8968607	651	P>A		No	ClinGen ExAC gnomAD
rs777858687 CA8968608	651	P>L		No	ClinGen ExAC gnomAD
rs758510587 CA402307606	651	P>S		No	ClinGen ExAC gnomAD
CA8968609 rs142279753	653	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765088821 CA8968611	655	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8968612 rs746310144	657	H>R		No	ClinGen ExAC gnomAD
CA402307697 rs1432060494	658	S>*		No	ClinGen gnomAD
CA8968614 rs146389760	660	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763650760 CA8968616	661	N>D		No	ClinGen ExAC TOPMed gnomAD
CA402307740 rs1335539818	661	N>K		No	ClinGen gnomAD
rs1233962851 CA402307749	662	L>S		No	ClinGen TOPMed
CA8968618 rs761779310	663	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1298324252 CA402307780	664	S>I		No	ClinGen gnomAD
CA402307810 rs201355805	666	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1599247989 CA402307805	666	Q>R		No	ClinGen Ensembl
CA8968620 rs750175746	668	F>S		No	ClinGen ExAC TOPMed gnomAD
rs765342669 CA8968622	670	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1286167962 CA402307884	672	H>R		No	ClinGen TOPMed
rs758640203 CA8968624	672	H>Y		No	ClinGen ExAC gnomAD
rs970842946 CA300707959	673	T>P		No	ClinGen Ensembl
rs200521281 CA8968626	674	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402307897 rs1373831304	674	T>I		No	ClinGen TOPMed
rs781747315 CA8968629	675	D>E		No	ClinGen ExAC gnomAD
rs1430833514 CA402307902	675	D>G		No	ClinGen gnomAD
CA8968628 rs141627949	675	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs141627949 CA402307899	675	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8968630 rs746188285	676	S>N		No	ClinGen ExAC
rs150497531 CA8968631	677	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA402307935 rs1466178078	678	K>E		No	ClinGen gnomAD
rs780306361 CA8968632	680	T>I		No	ClinGen ExAC TOPMed
rs748894889 CA8968633	681	V>A		No	ClinGen ExAC gnomAD
rs563332094 CA8968634	682	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1361058913 CA402308035	682	A>V		No	ClinGen Ensembl
CA300707985 rs1035525205	683	T>I		No	ClinGen TOPMed
CA8968635 rs773996646	684	D>G		No	ClinGen ExAC
CA402308104 rs1472451848	686	H>D		No	ClinGen TOPMed
CA8968636 rs761471262	686	H>L		No	ClinGen ExAC TOPMed gnomAD
rs1324293306 CA402308134	687	E>Q		No	ClinGen gnomAD
rs1300268767 CA402308209	690	T>A		No	ClinGen gnomAD
CA402308219 rs1331528986	690	T>R		No	ClinGen TOPMed gnomAD
CA402308230 rs1234234437	691	E>G		No	ClinGen TOPMed gnomAD
CA8968638 rs771877024	693	R>K		No	ClinGen ExAC TOPMed gnomAD
CA402308288 rs771877024	693	R>T		No	ClinGen ExAC TOPMed gnomAD
CA8968640 rs760557350	695	P>L		No	ClinGen ExAC gnomAD
rs766146034 CA402308392	697	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8968641 rs766146034	697	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402308411 rs1317238067	698	V>A		No	ClinGen TOPMed
rs1487099441 CA402308420	699	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1487099441 CA402308417	699	D>N		No	ClinGen TOPMed gnomAD
CA300708033 rs139520866	700	E>D		No	ClinGen ESP TOPMed
TCGA novel	701	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8968642 rs753642196	703	T>A		No	ClinGen ExAC TOPMed gnomAD
rs764646757 CA300708050	704	F>S		No	ClinGen Ensembl
rs1201095629 CA402308547	705	P>S		No	ClinGen gnomAD
rs531120033 CA8968644	707	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1159204403 CA402308627	708	I>T		No	ClinGen gnomAD
rs1408442073 CA402308644	709	D>V		No	ClinGen TOPMed
rs1449988338 CA402308649	710	P>S		No	ClinGen TOPMed
CA402308669 rs1292940953	712	V>L		No	ClinGen gnomAD
rs141645046 CA8968646	713	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8968647 rs781161881	714	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8968649 rs756594790	715	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs374372131 CA8968650	717	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8968651 rs749741047	721	Q>E		No	ClinGen ExAC
rs1289007023 CA402308803	722	K>Q		No	ClinGen gnomAD
TCGA novel	722	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318870283 CA402308842	724	L>R		No	ClinGen gnomAD
rs908170917 CA300708116	725	L>P		No	ClinGen TOPMed
rs1259458781 CA402308861	726	A>E		No	ClinGen gnomAD
rs778762382 CA8968653	728	W>*		No	ClinGen ExAC gnomAD
CA402308903 rs1250101129	729	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs528650008 CA8968654	729	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA402308907 rs1482484628	730	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA402308912 rs8305	731	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8968655 VAR_021245 rs8305	731	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1409529544 CA402308916	732	G>R		No	ClinGen gnomAD
rs772617646 CA8968656	736	H>Q		No	ClinGen ExAC gnomAD
CA300708147 rs901034435	736	H>R		No	ClinGen Ensembl
rs770779391 CA8968658	737	I>V		No	ClinGen ExAC gnomAD
CA402308984 rs1374794466	741	K>Y		No	ClinGen gnomAD

No associated diseases with Q9UNA4

2 regional properties for Q9UNA4

Type	Name	Position	InterPro Accession
domain	UmuC domain	55 - 268	IPR001126
domain	DNA polymerase, Y-family, little finger domain	324 - 438	IPR017961

Functions

		Description
EC Number	2.7.7.7	Nucleotidyltransferases
Subcellular Localization	Nucleus	Binding to ubiquitin mediates localization to replication forks after UV-induced DNA damage
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasmic ribonucleoprotein granule	A ribonucleoprotein granule located in the cytoplasm.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

3 GO annotations of molecular function

Name	Definition
damaged DNA binding	Binding to damaged DNA.
DNA-directed DNA polymerase activity	Catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1); the synthesis of DNA from deoxyribonucleotide triphosphates in the presence of a DNA template and a 3'hydroxyl group.
metal ion binding	Binding to a metal ion.

4 GO annotations of biological process

Name	Definition
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
DNA replication	The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
error-prone translesion synthesis	The conversion of DNA-damage induced single-stranded gaps into large molecular weight DNA after replication by using a specialized DNA polymerase or replication complex to insert a defined nucleotide across the lesion. This process does not remove the replication-blocking lesions and causes an increase in the endogenous mutation level. For example, in E. coli, a low fidelity DNA polymerase, pol V, copies lesions that block replication fork progress. This produces mutations specifically targeted to DNA template damage sites, but it can also produce mutations at undamaged sites.
translesion synthesis	The replication of damaged DNA by synthesis across a lesion in the template strand; a specialized DNA polymerase or replication complex inserts a defined nucleotide across from the lesion which allows DNA synthesis to continue beyond the lesion. This process can be mutagenic depending on the damaged nucleotide and the inserted nucleotide.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8H2D5	POLH	DNA polymerase eta	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEKLGVEPEE	EGGGDDDEED	AEAWAMELAD	VGAAASSQGV	HDQVLPTPNA	SSRVIVHVDL
70	80	90	100	110	120
DCFYAQVEMI	SNPELKDKPL	GVQQKYLVVT	CNYEARKLGV	KKLMNVRDAK	EKCPQLVLVN
130	140	150	160	170	180
GEDLTRYREM	SYKVTELLEE	FSPVVERLGF	DENFVDLTEM	VEKRLQQLQS	DELSAVTVSG
190	200	210	220	230	240
HVYNNQSINL	LDVLHIRLLV	GSQIAAEMRE	AMYNQLGLTG	CAGVASNKLL	AKLVSGVFKP
250	260	270	280	290	300
NQQTVLLPES	CQHLIHSLNH	IKEIPGIGYK	TAKCLEALGI	NSVRDLQTFS	PKILEKELGI
310	320	330	340	350	360
SVAQRIQKLS	FGEDNSPVIL	SGPPQSFSEE	DSFKKCSSEV	EAKNKIEELL	ASLLNRVCQD
370	380	390	400	410	420
GRKPHTVRLI	IRRYSSEKHY	GRESRQCPIP	SHVIQKLGTG	NYDVMTPMVD	ILMKLFRNMV
430	440	450	460	470	480
NVKMPFHLTL	LSVCFCNLKA	LNTAKKGLID	YYLMPSLSTT	SRSGKHSFKM	KDTHMEDFPK
490	500	510	520	530	540
DKETNRDFLP	SGRIESTRTR	ESPLDTTNFS	KEKDINEFPL	CSLPEGVDQE	VFKQLPVDIQ
550	560	570	580	590	600
EEILSGKSRE	KFQGKGSVSC	PLHASRGVLS	FFSKKQMQDI	PINPRDHLSS	SKQVSSVSPC
610	620	630	640	650	660
EPGTSGFNSS	SSSYMSSQKD	YSYYLDNRLK	DERISQGPKE	PQGFHFTNSN	PAVSAFHSFP
670	680	690	700	710	720
NLQSEQLFSR	NHTTDSHKQT	VATDSHEGLT	ENREPDSVDE	KITFPSDIDP	QVFYELPEAV
730
QKELLAEWKR	AGSDFHIGHK