AiPD: Autoinhibited Protein Database

Q96NY9

Gene name	MUS81
Protein name	Crossover junction endonuclease MUS81
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80198
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

64-133 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

64-133 (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

10 structures for Q96NY9

Entry ID	Method	Resolution	Chain	Position	Source
2MC3	NMR	-	A	127-230	PDB
2ZIX	X-ray	350 A	A	246-551	PDB
4P0P	X-ray	280 A	A	246-551	PDB
4P0Q	X-ray	285 A	A	246-551	PDB
4P0R	X-ray	650 A	A/C	246-551	PDB
4P0S	X-ray	600 A	A/C/E/G	246-551	PDB
6VWB	NMR	-	A	2-90	PDB
7BU5	X-ray	180 A	A	2-99	PDB
7F6L	X-ray	320 A	A	246-551	PDB
AF-Q96NY9-F1	Predicted				AlphaFoldDB

521 variants for Q96NY9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA381319149 rs1372835909	2	A>V		No	ClinGen TOPMed gnomAD
CA224010381 rs1018632378	3	A>V		No	ClinGen TOPMed gnomAD
CA381319197 rs1331750240	4	P>L		No	ClinGen gnomAD
rs1331750240 CA381319195	4	P>R		No	ClinGen gnomAD
rs1273165800 CA381319257	7	L>M		No	ClinGen gnomAD
CA381319295 rs1416839221	8	G>A		No	ClinGen TOPMed
rs1233518519 CA381319281	8	G>S		No	ClinGen gnomAD
rs1298024056 CA381319299	9	R>W		No	ClinGen gnomAD
CA6109612 rs768885045	11	R>H		No	ClinGen ExAC TOPMed gnomAD
CA381319373 rs768885045	11	R>L		No	ClinGen ExAC TOPMed gnomAD
CA381319393 rs1451830059	12	P>L		No	ClinGen TOPMed gnomAD
CA381319391 rs1451830059	12	P>Q		No	ClinGen TOPMed gnomAD
rs962881541 CA381319385	12	P>S		No	ClinGen gnomAD
CA224010387 rs962881541	12	P>T		No	ClinGen gnomAD
rs1223056097 CA381319402	13	L>V		No	ClinGen gnomAD
rs1565263922 CA381319424	14	P>R		No	ClinGen Ensembl
CA381319408 rs1250630656	14	P>S		No	ClinGen gnomAD
CA224010388 rs974479562	15	A>S		No	ClinGen TOPMed gnomAD
rs1211525012 CA381319502	17	P>L		No	ClinGen TOPMed
CA381319493 rs1032767138	17	P>S		No	ClinGen TOPMed gnomAD
CA224010394 rs1032767138	17	P>T		No	ClinGen TOPMed gnomAD
CA381319532 rs957471087	19	P>A		No	ClinGen TOPMed gnomAD
CA224010396 rs957471087	19	P>S		No	ClinGen TOPMed gnomAD
CA381319552 rs1391648979	20	L>F		No	ClinGen TOPMed gnomAD
rs1407313843 CA381319557	20	L>P		No	ClinGen gnomAD
rs1440054466 CA381319577	22	V>F		No	ClinGen gnomAD
rs1321206091 CA381319609	23	R>H		No	ClinGen gnomAD
rs1279794327 CA381319623	24	W>*		No	ClinGen TOPMed
rs1591052966 CA381319648	26	T>A		No	ClinGen Ensembl
CA381319657 rs1412702026	26	T>I		No	ClinGen TOPMed
rs1224889243 CA381319662	27	E>K		No	ClinGen gnomAD
rs767632887 CA6109616	28	W>R		No	ClinGen ExAC
CA6109618 rs773419651	29	R>L		No	ClinGen ExAC
CA381319697 rs1354652689	29	R>W		No	ClinGen TOPMed
CA381319723 rs1270702037	30	D>E		No	ClinGen TOPMed gnomAD
CA381319714 rs1229714160	30	D>G		No	ClinGen gnomAD
TCGA novel	31	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381319772 rs1209898241	32	A>V		No	ClinGen TOPMed gnomAD
CA224010435 rs531054625	33	T>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA6109620 rs764964920	34	R>G		No	ClinGen ExAC TOPMed gnomAD
rs752664141 CA6109622	34	R>H		No	ClinGen ExAC
rs752664141 CA6109621	34	R>L		No	ClinGen ExAC
CA6109624 rs751020184	35	S>C		No	ClinGen ExAC gnomAD
CA381319820 rs751020184	35	S>G		No	ClinGen ExAC gnomAD
rs1473881768 CA381319824	35	S>N		No	ClinGen gnomAD
CA381319865 rs1425349544	37	R>C		No	ClinGen TOPMed
CA6109625 rs13817 VAR_025340	37	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA381319872 rs13817	37	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6109627 rs570698749	38	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6109626 rs570698749	38	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6109628 rs756567160	38	R>L		No	ClinGen ExAC TOPMed gnomAD
rs780522545 CA6109629	39	T>K		No	ClinGen ExAC gnomAD
CA381319918 rs780522545	39	T>R		No	ClinGen ExAC gnomAD
CA381319933 rs1249637273	40	R>C		No	ClinGen TOPMed
rs370267349 CA6109630	40	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA381319960 rs1380483951	41	F>L		No	ClinGen TOPMed gnomAD
CA6109632 rs774561883	44	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	44	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1340892035 CA381320095	44	Q>R		No	ClinGen gnomAD
CA381320126 CA6109633 rs748185214	45	K>N		No	ClinGen ExAC TOPMed gnomAD
CA6109662 rs766974550	46	A>V		No	ClinGen ExAC TOPMed gnomAD
rs760458484 CA6109664	47	L>V		No	ClinGen ExAC gnomAD
CA6109665 rs766138528	48	R>C		No	ClinGen ExAC TOPMed gnomAD
CA224010688 rs902399243	48	R>H		No	ClinGen gnomAD
rs566606681 CA224010689	49	S>C		No	ClinGen 1000Genomes
rs999466708 CA224010690	50	L>F		No	ClinGen Ensembl
rs1343385804 CA381320420	52	R>W		No	ClinGen gnomAD
CA381320498 rs1249763876	54	P>L		No	ClinGen gnomAD
rs1206881614 CA381320490	54	P>S		No	ClinGen gnomAD
CA6109667 rs753487888	55	L>P		No	ClinGen ExAC gnomAD
CA6109668 rs376495127	56	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6109669 rs779298802	60	G>V		No	ClinGen ExAC TOPMed gnomAD
CA6109670 rs753186324	62	E>A		No	ClinGen ExAC gnomAD
rs1370927444 CA381320756	64	K>E		No	ClinGen TOPMed gnomAD
CA6109673 rs777773312	65	I>L		No	ClinGen ExAC TOPMed gnomAD
CA6109672 rs777773312	65	I>V		No	ClinGen ExAC TOPMed gnomAD
rs746039902 CA6109676	71	D>H		No	ClinGen ExAC gnomAD
rs768365383 CA6109677	72	G>R		No	ClinGen ExAC gnomAD
TCGA novel	72	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774160660 CA6109678	75	R>G		No	ClinGen ExAC TOPMed gnomAD
CA224010801 rs772028651	75	R>L		No	ClinGen ExAC gnomAD
rs772028651 CA6109680	75	R>Q		No	ClinGen ExAC gnomAD
rs774160660 CA6109679	75	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1382202859 CA381321110	76	M>R		No	ClinGen TOPMed
CA381321150 rs989074482	78	D>E		No	ClinGen TOPMed gnomAD
rs1591053645 CA381321144	78	D>G		No	ClinGen Ensembl
CA6109681 rs772921104	79	E>K		No	ClinGen ExAC TOPMed
rs760278675 CA381321199	81	L>M		No	ClinGen ExAC TOPMed gnomAD
rs765941773 CA6109683	82	Q>P		No	ClinGen ExAC gnomAD
CA381321300 rs1211738573	85	R>*		No	ClinGen TOPMed gnomAD
rs1211738573 CA381321299	85	R>G		No	ClinGen TOPMed gnomAD
CA6109685 rs753579826	85	R>P		No	ClinGen ExAC gnomAD
CA6109684 rs753579826	85	R>Q		No	ClinGen ExAC gnomAD
CA6109686 rs765572400	86	T>I		No	ClinGen ExAC TOPMed gnomAD
rs780859387 CA224010843	89	G>C		No	ClinGen gnomAD
rs1393648514 CA381321936	90	D>G		No	ClinGen gnomAD
rs767629570 CA6109710	91	H>D		No	ClinGen ExAC TOPMed gnomAD
CA381321998 rs1258303966	91	H>R		No	ClinGen TOPMed
rs767629570 CA381321984	91	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA381322005 rs1168863297	92	A>T		No	ClinGen gnomAD
CA6109711 rs750500996	93	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1350588462 CA381322258	97	S>F		No	ClinGen gnomAD
CA381322295 rs1368702303	98	G>E		No	ClinGen gnomAD
rs1327921046 CA381322291	98	G>R		No	ClinGen gnomAD
rs1233222635 CA381322309	99	E>K		No	ClinGen gnomAD
CA6109713 rs780324950	100	N>D		No	ClinGen ExAC TOPMed gnomAD
rs900168509 CA224010990	100	N>S		No	ClinGen TOPMed gnomAD
rs561972931 CA6109714	101	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561972931 CA6109715	101	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1336173878 CA381322400	102	P>L		No	ClinGen TOPMed
CA381322429 rs1271658848	103	A>V		No	ClinGen gnomAD
rs777682352 CA6109716	104	P>S		No	ClinGen ExAC gnomAD
CA224011008 rs1026222102	105	Q>P		No	ClinGen gnomAD
CA224011010 rs138876239	106	G>R		No	ClinGen ESP TOPMed gnomAD
rs1194291376 CA381322513	107	R>*		No	ClinGen gnomAD
rs368564921 CA6109717	107	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6109718 rs770980629	108	L>I		No	ClinGen ExAC gnomAD
rs892851272 CA224011014	108	L>R		No	ClinGen TOPMed
rs1167615294 CA381322564 COSM930521 COSM1585923	109	A>S	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1167615294 CA381322551	109	A>T		No	ClinGen TOPMed gnomAD
rs776347471 CA6109720	110	E>A		No	ClinGen ExAC TOPMed gnomAD
CA6109721 rs745388656	111	V>I		No	ClinGen ExAC gnomAD
rs1353966876 CA381322722	113	D>A		No	ClinGen TOPMed
CA224011052 rs748054705	113	D>N		No	ClinGen gnomAD
rs149431486 CA6109723	114	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA224011061 rs34381357	115	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_061988 rs34381357 CA6109724	115	S>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1428203503 CA381322814	116	M>V		No	ClinGen gnomAD
rs1002789305 CA224011084	117	P>L		No	ClinGen TOPMed
rs762166588 CA6109744	118	V>F		No	ClinGen ExAC gnomAD
rs772360926 CA6109745	119	P>L		No	ClinGen ExAC TOPMed gnomAD
CA381323115 rs1468561064	120	A>V		No	ClinGen gnomAD
CA381323127 rs1375886241	121	Q>*		No	ClinGen gnomAD
CA381323264 rs1440479669	124	A>V		No	ClinGen TOPMed
CA6109748 rs761059610	127	S>C		No	ClinGen ExAC gnomAD
rs1488023683 CA381323406	130	Y>C		No	ClinGen TOPMed
CA224011335 rs922114625	131	W>*		No	ClinGen TOPMed gnomAD
rs1334466674 CA381323443	131	W>C		No	ClinGen gnomAD
rs1240114754 CA381323449	132	P>T		No	ClinGen gnomAD
CA381323473 rs753852784	133	A>P		No	ClinGen ExAC gnomAD
rs753852784 CA6109750	133	A>S		No	ClinGen ExAC gnomAD
rs759904678 CA6109751	133	A>V		No	ClinGen ExAC gnomAD
CA381323490 rs143830327	134	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA381323503 rs932199815	134	R>P		No	ClinGen TOPMed gnomAD
CA224011360 rs932199815	134	R>Q		No	ClinGen TOPMed gnomAD
CA6109752 rs143830327	134	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA381323536 rs1172539432	135	H>Q		No	ClinGen gnomAD
rs147280124 CA224011361	139	R>*		No	ClinGen ESP TOPMed gnomAD
rs147280124 CA224011362	139	R>G		No	ClinGen ESP TOPMed gnomAD
rs148465534 CA224011381	139	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148465534 CA6109754	139	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148465534 CA6109753	139	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1591055347 CA381323645	140	V>G		No	ClinGen Ensembl
CA381323655 rs1435981788	141	I>V		No	ClinGen gnomAD
rs1178001089 CA381323707	143	L>P		No	ClinGen TOPMed gnomAD
rs1178001089 CA381323705	143	L>Q		No	ClinGen TOPMed gnomAD
rs1455365199 CA381323716	144	V>M		No	ClinGen gnomAD
CA679351849 rs1158643123	146	Y>*		No	ClinGen TOPMed
rs779669908 CA381323864	147	R>L		No	ClinGen ExAC TOPMed gnomAD
rs779669908 CA6109758	147	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755982969 CA6109757	147	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1226127758 CA381323924	150	L>Q		No	ClinGen gnomAD
CA6109793 rs774562099	152	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6109792 rs764214410	152	P>T		No	ClinGen ExAC gnomAD
rs760397816 CA6109794	153	N>D		No	ClinGen ExAC TOPMed gnomAD
COSM1585922 CA381324222 rs1455614900 COSM930522	154	G>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1455614900 CA381324226	154	G>V		No	ClinGen TOPMed gnomAD
rs754889802 CA381324241	155	H>P		No	ClinGen ExAC TOPMed gnomAD
CA6109798 rs754889802	155	H>R		No	ClinGen ExAC TOPMed gnomAD
rs753816989 CA6109797	155	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6109799 rs764789468	159	T>N		No	ClinGen ExAC gnomAD
TCGA novel	159	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381324430 rs1226533065	161	E>K		No	ClinGen gnomAD
rs1213466910 CA381324538	164	L>R		No	ClinGen gnomAD
rs746626563 CA6109803	166	R>K		No	ClinGen ExAC gnomAD
CA6109805 rs527610391	166	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	167	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1043622136 CA224011594	168	A>S		No	ClinGen Ensembl
rs200286461 CA6109807	171	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200286461 CA6109806	171	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768720227 CA6109810	173	R>T		No	ClinGen ExAC TOPMed gnomAD
CA6109821 rs751209049	175	A>V		No	ClinGen ExAC gnomAD
rs139123311 CA6109823	180	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs386754402 CA224012816	180	R>P		No	ClinGen Ensembl
VAR_038521 rs545500 CA6109824	180	R>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA381326993 rs545500	180	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs564497212 CA6109825	181	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA381327053 rs1476856612 COSM1215970 COSM1215969	182	W>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1175900807 CA381327073	183	P>Q		No	ClinGen gnomAD
CA381327091 rs1176196212	185	L>H		No	ClinGen gnomAD
CA6109826 rs780716342	185	L>I		No	ClinGen ExAC gnomAD
rs374977599 CA6109828	186	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758183083 CA6109829	186	R>H		No	ClinGen TOPMed gnomAD
rs758183083 CA381327105	186	R>L		No	ClinGen TOPMed gnomAD
VAR_021990 rs2298447 CA6109832	189	L>F		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA6109833 rs748379441	189	L>P		No	ClinGen ExAC gnomAD
CA224012889 rs938369141	190	H>R		No	ClinGen TOPMed
rs773358939 CA6109835	192	N>T		No	ClinGen ExAC TOPMed gnomAD
CA6109836 rs759341246	194	V>I		No	ClinGen ExAC TOPMed gnomAD
CA381327437 rs1319948037	196	R>G		No	ClinGen gnomAD
CA381327505 rs1591056316	198	H>P		No	ClinGen Ensembl
rs146515142 CA6109838	199	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345417017 CA381327570	200	P>A		No	ClinGen gnomAD
rs1308680322 CA381327599	201	A>T		No	ClinGen gnomAD
rs865965194 CA224012905	202	R>M		No	ClinGen Ensembl
rs371319164 CA6109863	206	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6109864 rs766714208	206	T>I		No	ClinGen ExAC gnomAD
CA381328080 rs766714208	206	T>N		No	ClinGen ExAC gnomAD
CA6109865 rs199531637	207	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1355472259 CA381328162	208	E>K		No	ClinGen gnomAD
rs758506242 CA6109869	211	E>Q		No	ClinGen ExAC gnomAD
CA6109870 rs777801229	214	Q>R		No	ClinGen ExAC gnomAD
rs1286736299 CA381328446	216	L>F		No	ClinGen gnomAD
rs867724382 CA224013282	217	A>V		No	ClinGen Ensembl
rs757454968 CA224013296	218	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757454968 CA6109872	218	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1486732831 CA381328540	219	S>L		No	ClinGen gnomAD
rs768277330 CA6109875	221	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6109874 rs749113036	221	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	223	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6109876 rs774364160	225	L>V		No	ClinGen ExAC gnomAD
CA381328666 rs1158961343	226	N>K		No	ClinGen gnomAD
rs748054944 CA6109877	227	V>A		No	ClinGen ExAC gnomAD
CA6109880 rs553992715	230	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6109881 rs368978893	230	G>V		No	ClinGen ESP ExAC gnomAD
rs759971585 CA6109883	231	P>L		No	ClinGen ExAC gnomAD
rs776093923 CA6109882	231	P>S		No	ClinGen ExAC TOPMed gnomAD
rs765478661 CA6109884	232	K>R		No	ClinGen ExAC TOPMed gnomAD
CA381328891 rs1351880092	233	E>D		No	ClinGen gnomAD
CA6109885 rs753244507	233	E>K		No	ClinGen ExAC gnomAD
rs1281384502 CA381328915	234	P>L		No	ClinGen gnomAD
CA6109886 rs758881631	234	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6109887 rs764218819	235	P>L		No	ClinGen ExAC TOPMed gnomAD
rs117136631 CA6109888	236	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1255504092 CA381328985	237	E>K		No	ClinGen gnomAD
rs1441790632 CA381329093	239	T>R		No	ClinGen gnomAD
CA6109889 rs757215929	241	V>M		No	ClinGen ExAC TOPMed gnomAD
CA381329168 rs1565266933	242	P>Q		No	ClinGen Ensembl
CA6109890 rs781489811	243	G>E		No	ClinGen ExAC TOPMed gnomAD
CA381329261 rs1565266965	246	S>T		No	ClinGen Ensembl
rs377710123 CA224013385	248	E>K		No	ClinGen ESP TOPMed gnomAD
CA224013389 rs955828959	249	L>F		No	ClinGen TOPMed gnomAD
CA381329690 rs1420769828	250	A>V		No	ClinGen gnomAD
rs756265627 CA6109912	251	S>T		No	ClinGen ExAC gnomAD
rs1591058060 CA381329851	255	V>G		No	ClinGen Ensembl
CA381329970 rs1456761447	259	P>L		No	ClinGen gnomAD
CA224013605 rs947392960	260	L>P		No	ClinGen TOPMed
rs778907595 CA6109913	260	L>V		No	ClinGen ExAC gnomAD
CA6109914 rs752548117	263	R>K		No	ClinGen ExAC TOPMed gnomAD
CA381330153 rs777878677	265	G>A		No	ClinGen ExAC gnomAD
rs777878677 CA6109916	265	G>E		No	ClinGen ExAC gnomAD
CA6109917 rs746885286	268	R>G		No	ClinGen ExAC gnomAD
CA6109918 rs770515783	268	R>K		No	ClinGen ExAC gnomAD
rs1242391669 CA381330279	269	V>E		No	ClinGen gnomAD
CA224013619 rs549884196	269	V>M		No	ClinGen 1000Genomes
TCGA novel	272	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6109921 rs769329736	274	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs775054429 CA6109922	275	I>V		No	ClinGen ExAC TOPMed gnomAD
CA381330464 rs763320107	276	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1260412539 CA381330451	276	G>S		No	ClinGen gnomAD
CA6109923 rs763320107	276	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1416645763 CA381330479	277	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6109925 rs774866031	278	T>I		No	ClinGen ExAC gnomAD
rs143145862 CA6109926	279	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143145862 CA6109927	279	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs895978458 CA224013625	279	R>W		No	ClinGen TOPMed gnomAD
CA381330674 rs1565267528	281	G>R		No	ClinGen Ensembl
CA381330693 rs1306763011	282	G>R		No	ClinGen TOPMed gnomAD
CA381330786 rs1280137486	284	R>S		No	ClinGen gnomAD
rs1219391440 CA381330763	284	R>T		No	ClinGen TOPMed gnomAD
rs769044872 CA6109942	285	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6109944 rs558498550	289	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772450771 CA6109945	289	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs773713789 CA6109946	290	E>K		No	ClinGen ExAC gnomAD
CA6109948 rs146653927	292	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs867764333 CA6109950	293	R>Q		No	ClinGen TOPMed gnomAD
rs777034208 CA6109949	293	R>W		No	ClinGen ExAC TOPMed gnomAD
rs376699792 CA6109953	295	H>P		No	ClinGen ESP ExAC gnomAD
CA6109954 rs751310933	295	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA224013871 rs971126657	296	V>G		No	ClinGen Ensembl
rs148855695 CA6109955	296	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6109956 rs148855695	296	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750322439 CA6109957	299	T>A		No	ClinGen ExAC gnomAD
rs150334520 CA6109958	299	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381331244 rs1591058651	300	V>G		No	ClinGen Ensembl
CA381331226 rs1365024672	300	V>M		No	ClinGen gnomAD
CA6109960 rs145333207	301	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6109962 rs752901382	301	R>H		No	ClinGen ExAC gnomAD
CA6109961 rs145333207	301	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1320652215 CA381331302	302	K>R		No	ClinGen gnomAD
rs1257827008 CA381331364	304	H>R		No	ClinGen gnomAD
rs372873814 CA6109965	305	V>A		No	ClinGen ESP ExAC gnomAD
rs367661848 COSM1215971 CA6109964 COSM1215972	305	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA381331577 rs1381746327	310	W>*		No	ClinGen TOPMed
CA381331646 rs1477803224	312	A>T		No	ClinGen gnomAD
CA381331681 rs1296813027	312	A>V		No	ClinGen TOPMed
CA381331806 rs1478767631	315	T>A		No	ClinGen gnomAD
CA6109968 rs776841932	317	P>S		No	ClinGen ExAC gnomAD
TCGA novel	318	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6109970 rs759906850	319	D>E		No	ClinGen ExAC gnomAD
CA381332311 rs1314779262	322	N>H		No	ClinGen TOPMed
TCGA novel	322	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591058971 CA381332330	322	N>T		No	ClinGen Ensembl
rs1314779262 CA381332317	322	N>Y		No	ClinGen TOPMed
rs891707695 CA224014065	323	P>S		No	ClinGen Ensembl
rs1009821955 CA224014072	324	G>E		No	ClinGen Ensembl
rs984584011 CA224014079	325	E>G		No	ClinGen Ensembl
rs764774705 CA6109998	325	E>K		No	ClinGen ExAC gnomAD
CA381332602 rs1351527409	330	H>D		No	ClinGen TOPMed
rs147126237 CA6110002	331	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs778068814 CA6110001	331	I>V		No	ClinGen ExAC TOPMed gnomAD
CA381332680 rs1565267935	333	E>A		No	ClinGen Ensembl
CA6110004 rs541005540	334	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6110005 rs746333896	334	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	335	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767104160 CA224014091	336	R>*		No	ClinGen TOPMed gnomAD
CA224014092 rs750077675	336	R>Q		No	ClinGen gnomAD
rs552242146 CA6110009	338	D>G		No	ClinGen ExAC gnomAD
rs1591059102 CA381332851	339	D>A		No	ClinGen Ensembl
rs1381817162 CA381332929	341	C>Y		No	ClinGen TOPMed gnomAD
rs1168485557 CA381333015	343	S>I		No	ClinGen gnomAD
rs138527502 CA6110010	344	I>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6110011 rs760475624	345	I>V		No	ClinGen ExAC gnomAD
rs201590586 CA224014114	346	D>A		No	ClinGen Ensembl
rs776591483 CA6110014	346	D>N		No	ClinGen ExAC TOPMed gnomAD
rs776591483 CA6110013	346	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6110016 rs775065066	347	G>S		No	ClinGen ExAC gnomAD
CA6110018 rs763824406	348	R>C		No	ClinGen ExAC TOPMed gnomAD
rs751211264 CA6110019	348	R>H		No	ClinGen ExAC TOPMed gnomAD
CA381333252 rs34891773	350	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6110021 rs200559028	350	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6110020 VAR_038522 rs34891773	350	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1198789024 CA381333361	352	Q>P		No	ClinGen TOPMed gnomAD
rs201029879 CA6110050	354	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6110052 rs775531547 COSM1676186 COSM1676185	355	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6110051 rs769429872	355	R>W		No	ClinGen ExAC gnomAD
CA381335443 rs1193195523	356	L>Q		No	ClinGen gnomAD
CA6110054 rs768327540	356	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1427289950 CA381335457	357	K>N		No	ClinGen TOPMed
rs776997076 CA6110055	358	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6110056 rs771444715	358	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771444715 CA381335477	358	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761122345 CA6110059	362	E>D		No	ClinGen ExAC TOPMed gnomAD
COSM1585920 rs766623994 COSM930524 CA6110060	363	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6110061 COSM1509691 rs367647379 COSM1509690	363	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs148466876 CA6110063	364	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6110062 rs144712177	364	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs752782707 CA6110064	365	V>I		No	ClinGen ExAC TOPMed gnomAD
CA381335735 rs1213468273	366	Y>C		No	ClinGen TOPMed
CA381335724 rs1401972922	366	Y>H		No	ClinGen gnomAD
rs1401972922 CA381335728	366	Y>N		No	ClinGen gnomAD
CA381335769 rs758420383	367	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6110066 rs141734852	368	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs751695699 CA6110067	372	G>R		No	ClinGen ExAC gnomAD
CA381335906 rs751695699	372	G>S		No	ClinGen ExAC gnomAD
rs768707017 CA6110071	374	V>A		No	ClinGen ExAC gnomAD
CA6110070 rs779689076	374	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6110069 rs779689076	374	V>L		No	ClinGen ExAC TOPMed gnomAD
CA381336021 rs1353934256	375	H>Y		No	ClinGen gnomAD
CA381336105 rs1239808814	376	N>K		No	ClinGen gnomAD
CA6110072 rs778926185	376	N>S		No	ClinGen ExAC gnomAD
CA6110073 rs747674843	377	L>I		No	ClinGen ExAC TOPMed gnomAD
rs200099847 CA6110074	378	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA381336232 rs1258863503	380	P>L		No	ClinGen gnomAD
rs1422490042 CA381336256	381	E>D		No	ClinGen gnomAD
rs772946881 CA6110075	381	E>K		No	ClinGen ExAC TOPMed
CA6110076 rs760223907	382	S>R		No	ClinGen ExAC gnomAD
CA224014593 rs962798879	386	Q>R		No	ClinGen TOPMed gnomAD
CA6110078 rs776855811	387	A>D		No	ClinGen ExAC TOPMed gnomAD
rs776855811 CA6110079	387	A>V		No	ClinGen ExAC TOPMed gnomAD
rs141867321 CA6110080	388	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6110081 rs115472389 RCV000956962	390	N>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs764289570 CA224014657	393	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6110102 rs764289570	393	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1219339257 CA381336873	394	I>T		No	ClinGen gnomAD
rs1302701027 CA381336936	396	G>D		No	ClinGen gnomAD
TCGA novel	399	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1261787216 CA381337031	399	V>L		No	ClinGen gnomAD
rs767645382 CA6110105	400	K>R		No	ClinGen ExAC TOPMed gnomAD
rs767645382 CA6110106	400	K>T		No	ClinGen ExAC TOPMed gnomAD
rs754849594 CA6110107	401	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765092249 CA6110108	401	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6110110 rs763891150	402	T>I		No	ClinGen ExAC TOPMed gnomAD
CA381337189 rs763891150	402	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1269503375 CA381337278	404	D>E		No	ClinGen gnomAD
rs777700069 CA6110111	405	I>V		No	ClinGen ExAC gnomAD
rs1479417856 CA381337369	407	E>A		No	ClinGen TOPMed gnomAD
CA6110114 rs75034975	410	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373098979 CA6110115	413	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs770196208 CA6110116	413	A>V		No	ClinGen ExAC gnomAD
CA6110118 rs749856963	415	L>*		No	ClinGen ExAC TOPMed gnomAD
CA6110117 rs775816905	415	L>M		No	ClinGen ExAC gnomAD
rs1343176141 CA381337671	416	T>A		No	ClinGen gnomAD
COSM3810092 rs1222364986 COSM3810091 CA381337681	416	T>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs767593729 CA381337734	417	R>P		No	ClinGen ExAC TOPMed gnomAD
rs767593729 CA6110122	417	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761819988 CA6110121	417	R>W		No	ClinGen ExAC gnomAD
CA6110123 rs369437234	419	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304348694 CA381337825	420	Q>R		No	ClinGen gnomAD
rs1565269135 CA381337910	421	R>T		No	ClinGen Ensembl
rs1459647101 CA381337965	422	L>R		No	ClinGen TOPMed
rs1490223314 CA381337977	423	Y>H		No	ClinGen gnomAD
rs370602890 CA6110155	427	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779313070 CA6110154	427	T>P		No	ClinGen ExAC gnomAD
rs772712031 CA6110156	429	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201343332 CA6110157	429	R>H		No	ClinGen ExAC TOPMed gnomAD
rs772712031 CA381338324	429	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6110158 rs747110425	430	S>N		No	ClinGen ExAC gnomAD
COSM1356078 CA6110159 rs763130846 COSM1356077	431	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6110160 rs61754785	431	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759785707 CA6110161	432	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1555041589 CA6110163	433	W>L		No	ClinGen Ensembl
rs1447973452 CA381338441	434	G>V		No	ClinGen TOPMed gnomAD
CA381338466 rs761443910	436	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6110166 rs761443910	436	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1202730563 CA381338486	437	G>E		No	ClinGen TOPMed
CA6110167 rs200373867	439	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6110168 rs750308984	440	E>G		No	ClinGen ExAC TOPMed gnomAD
CA224014870 rs906610246	441	S>L		No	ClinGen Ensembl
rs760208146 CA6110169	442	G>A		No	ClinGen ExAC gnomAD
CA381338623 rs760208146	442	G>E		No	ClinGen ExAC gnomAD
rs765843176 CA6110170	444	M>L		No	ClinGen ExAC TOPMed gnomAD
CA6110171 rs765843176	444	M>V		No	ClinGen ExAC TOPMed gnomAD
rs754645666 CA6110172	445	T>I		No	ClinGen ExAC
CA381338764 rs1252276554	448	N>H		No	ClinGen gnomAD
CA381338797 rs1435673037	449	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6110174 rs753119410	450	L>F		No	ClinGen ExAC gnomAD
rs758788208 CA6110175	450	L>P		No	ClinGen ExAC gnomAD
CA381338829 rs753119410	450	L>V		No	ClinGen ExAC gnomAD
rs1340891998 CA381338857	451	C>S		No	ClinGen TOPMed
CA224014888 rs199989607	451	C>W		No	ClinGen Ensembl
rs202095537 CA224014892	454	L>F		No	ClinGen 1000Genomes TOPMed gnomAD
rs1591061613 CA381339043	455	T>P		No	ClinGen Ensembl
CA381339086 rs1369342485	456	F>C		No	ClinGen TOPMed
rs747490735 CA6110177	457	S>G		No	ClinGen ExAC gnomAD
CA224014899 rs367762559	457	S>N		No	ClinGen ESP TOPMed gnomAD
rs1390979295 CA381339137 CA381339129	457	S>R		No	ClinGen TOPMed gnomAD
CA6110178 rs757463615	458	D>N		No	ClinGen ExAC gnomAD
CA224014905 rs781322332	460	N>I		No	ClinGen ExAC TOPMed gnomAD
CA6110179 rs781322332	460	N>S		No	ClinGen ExAC TOPMed gnomAD
CA381339232 rs770056057	461	A>P		No	ClinGen ExAC TOPMed gnomAD
rs770056057 CA381339233	461	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6110181 rs770056057	461	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	462	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381339267 rs1457417120	462	G>E		No	ClinGen Ensembl
rs898487878 CA224014908	464	I>V		No	ClinGen TOPMed
CA381339343 rs1227923831	465	K>E		No	ClinGen gnomAD
CA224014911 rs958830007	465	K>M		No	ClinGen Ensembl
rs747956072 CA6110184	466	N>D		No	ClinGen ExAC
rs756095955 CA6110199	468	A>T		No	ClinGen ExAC gnomAD
RCV000886294 rs34962862 CA6110200	470	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1411108998 CA381339634	471	V>M		No	ClinGen TOPMed
CA6110203 COSM1356083 COSM1356084 rs771900946	472	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6110202 rs771900946	472	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6110204 rs747015071	472	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770914783 CA6110205	474	V>A		No	ClinGen ExAC gnomAD
CA381339766 rs1188866330	474	V>M		No	ClinGen gnomAD
rs201571837 CA6110207	477	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381339828 rs1188642058	477	R>W		No	ClinGen gnomAD
rs1361326996 CA381339969	480	M>I		No	ClinGen gnomAD
CA6110209 rs775334423	480	M>V		No	ClinGen ExAC gnomAD
rs762684304 CA6110210	481	Q>*		No	ClinGen ExAC gnomAD
rs762684304 CA6110211	481	Q>E		No	ClinGen ExAC gnomAD
VAR_025341 rs765593 CA224015047	481	Q>H		No	ClinGen UniProt Ensembl dbSNP
CA224015048 rs987250871	482	V>G		No	ClinGen Ensembl
rs1290610503 CA381340046	482	V>L		No	ClinGen gnomAD
CA6110213 rs368415771	483	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1356085 rs768086876 COSM1356086 CA6110214	483	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA224015062 rs200398671	484	G>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6110216 rs200398671	484	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381340131 rs1422111258	485	V>A		No	ClinGen TOPMed gnomAD
rs1313916547 CA381340111	485	V>M		No	ClinGen gnomAD
rs779975020 CA6110217	487	G>A		No	ClinGen ExAC gnomAD
CA224015076 rs915448877	491	A>P		No	ClinGen Ensembl
CA381340451 rs1591062099	494	V>G		No	ClinGen Ensembl
CA6110220 rs556719020	494	V>L		No	ClinGen ExAC gnomAD
rs1245288985 CA381340482	495	D>G		No	ClinGen gnomAD
rs746829652 CA381340501	496	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372789256 CA381340519	496	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6110222 rs372789256	496	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA224015103 rs980934607	498	S>R		No	ClinGen TOPMed
CA381340572 rs1591062147	499	T>P		No	ClinGen Ensembl
rs1381127788 CA381340660	501	A>S		No	ClinGen gnomAD
rs781231190 CA6110223	502	S>N		No	ClinGen ExAC gnomAD
rs1431321156 CA381341121	503	L>F		No	ClinGen gnomAD
CA381341238 rs199586046	506	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199586046 CA6110242	506	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6110243 rs530353308	507	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA224015400 rs778290347	508	D>N		No	ClinGen Ensembl
TCGA novel	509	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6110244 rs769626886	510	C>R		No	ClinGen ExAC gnomAD
rs867792124 CA224015411	511	A>V		No	ClinGen Ensembl
CA224015412 rs966811469	512	T>I		No	ClinGen Ensembl
rs780085221 CA6110245	513	P>L		No	ClinGen ExAC TOPMed gnomAD
CA224015426 rs978240151	516	Q>H		No	ClinGen TOPMed gnomAD
CA6110247 rs768237489	516	Q>R		No	ClinGen ExAC gnomAD
CA6110248 rs774184394	517	E>K		No	ClinGen ExAC gnomAD
rs773443435 CA6110251	521	S>R		No	ClinGen ExAC gnomAD
rs1202779373 CA381342124	523	I>N		No	ClinGen TOPMed gnomAD
rs147084358 CA6110252	524	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201643175 CA381342261	526	G>V		No	ClinGen TOPMed gnomAD
rs1479386637 COSM1676188 CA381342265 COSM1676187	527	R>C	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs376802866 CA6110254	527	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6110256 rs765280575	529	Q>*		No	ClinGen ExAC gnomAD
rs1328001410 CA381342710	530	R>S		No	ClinGen TOPMed
CA224015562 rs113748912	531	N>K		No	ClinGen TOPMed gnomAD
CA224015559 rs1002466766	531	N>S		No	ClinGen TOPMed
rs371206775 CA224015566	533	G>E		No	ClinGen ESP TOPMed gnomAD
rs766252036 CA6110281	534	P>T		No	ClinGen ExAC gnomAD
CA6110282 rs753882035	535	A>T		No	ClinGen ExAC gnomAD
rs754959356 CA6110283	537	S>R		No	ClinGen ExAC
CA6110284 rs778841925	538	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6110285 rs747625070	538	R>K		No	ClinGen ExAC gnomAD
CA224015583 rs1055158329	539	T>S		No	ClinGen TOPMed gnomAD
CA6110287 rs777330433	543	L>P		No	ClinGen ExAC gnomAD
CA381343275 rs1591063437	544	Y>S		No	ClinGen Ensembl
rs1158597316 CA381343327	545	C>R		No	ClinGen TOPMed gnomAD
CA381343334 rs1185976667	545	C>Y		No	ClinGen TOPMed
rs776978012 CA6110291	548	G>R		No	ClinGen ExAC gnomAD
rs776978012 CA6110290	548	G>S		No	ClinGen ExAC gnomAD
rs1454904780 CA381343584	552	T>R		No	ClinGen gnomAD

No associated diseases with Q96NY9

3 regional properties for Q96NY9

Type	Name	Position	InterPro Accession
domain	ERCC4 domain	270 - 413	IPR006166
domain	MUS81, XPF-like nuclease domain	266 - 419	IPR047416
domain	MUS81, winged helix domain	130 - 219	IPR047417

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus	Recruited to foci of DNA damage in S-phase cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
endodeoxyribonuclease complex	A protein complex which is capable of endodeoxyribonuclease activity.
Holliday junction resolvase complex	An endodeoxyribonuclease complex that resolves the 4-way DNA intermediates of a Holliday junction into two separate duplex DNA molecules. Can be branch-migration associated.
nuclear replication fork	The Y-shaped region of a nuclear replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

4 GO annotations of molecular function

Name	Definition
3'-flap endonuclease activity	Catalysis of the cleavage of a 3' flap structure in DNA, but not other DNA structures; processes the 3' ends of Okazaki fragments in lagging strand DNA synthesis.
crossover junction endodeoxyribonuclease activity	Catalysis of the endonucleolytic cleavage at a junction such as a reciprocal single-stranded crossover between two homologous DNA duplexes (Holliday junction).
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
metal ion binding	Binding to a metal ion.

9 GO annotations of biological process

Name	Definition
DNA catabolic process, endonucleolytic	The chemical reactions and pathways resulting in the breakdown of DNA, involving the hydrolysis of internal 3',5'-phosphodiester bonds in one or two strands of deoxyribonucleotides.
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.
double-strand break repair	The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix.
double-strand break repair via break-induced replication	The error-free repair of a double-strand break in DNA in which the centromere-proximal end of a broken chromosome searches for a homologous region in an intact chromosome. DNA synthesis initiates from the 3' end of the invading DNA strand, using the intact chromosome as the template, and progresses to the end of the chromosome.
mitotic intra-S DNA damage checkpoint signaling	A mitotic cell cycle checkpoint that slows DNA synthesis in response to DNA damage by the prevention of new origin firing and the stabilization of slow replication fork progression.
osteoblast proliferation	The multiplication or reproduction of osteoblasts, resulting in the expansion of an osteoblast cell population. An osteoblast is a bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone.
replication fork processing	The process in which a DNA replication fork that has stalled is restored to a functional state and replication is restarted. The stalling may be due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes.
resolution of meiotic recombination intermediates	The cleavage and rejoining of intermediates, such as Holliday junctions, formed during meiotic recombination to produce two intact molecules in which genetic material has been exchanged.
response to intra-S DNA damage checkpoint signaling	A process that occurs in response to signals generated as a result of intra-S DNA damage checkpoint signaling.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAAPVRLGRK	RPLPACPNPL	FVRWLTEWRD	EATRSRRRTR	FVFQKALRSL	RRYPLPLRSG
70	80	90	100	110	120
KEAKILQHFG	DGLCRMLDER	LQRHRTSGGD	HAPDSPSGEN	SPAPQGRLAE	VQDSSMPVPA
130	140	150	160	170	180
QPKAGGSGSY	WPARHSGARV	ILLVLYREHL	NPNGHHFLTK	EELLQRCAQK	SPRVAPGSAR
190	200	210	220	230	240
PWPALRSLLH	RNLVLRTHQP	ARYSLTPEGL	ELAQKLAESE	GLSLLNVGIG	PKEPPGEETA
250	260	270	280	290	300
VPGAASAELA	SEAGVQQQPL	ELRPGEYRVL	LCVDIGETRG	GGHRPELLRE	LQRLHVTHTV
310	320	330	340	350	360
RKLHVGDFVW	VAQETNPRDP	ANPGELVLDH	IVERKRLDDL	CSSIIDGRFR	EQKFRLKRCG
370	380	390	400	410	420
LERRVYLVEE	HGSVHNLSLP	ESTLLQAVTN	TQVIDGFFVK	RTADIKESAA	YLALLTRGLQ
430	440	450	460	470	480
RLYQGHTLRS	RPWGTPGNPE	SGAMTSPNPL	CSLLTFSDFN	AGAIKNKAQS	VREVFARQLM
490	500	510	520	530	540
QVRGVSGEKA	AALVDRYSTP	ASLLAAYDAC	ATPKEQETLL	STIKCGRLQR	NLGPALSRTL
550
SQLYCSYGPL	T