AiPD: Autoinhibited Protein Database

Q96SB8

Gene name	SMC6 (SMC6L1)
Protein name	Structural maintenance of chromosomes protein 6
Names	SMC protein 6, SMC-6, hSMC6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79677
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-69 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-69 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q96SB8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96SB8-F1	Predicted				AlphaFoldDB

716 variants for Q96SB8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1048480359 CA43385471	2	A>S		No	ClinGen Ensembl
TCGA novel	2	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747459869 CA1540273	2	A>V		No	ClinGen ExAC gnomAD
rs780634958 CA1540272	3	K>E		No	ClinGen ExAC gnomAD
TCGA novel	3	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345925667 rs1474278612	6	E>*		No	ClinGen gnomAD
CA43385456 rs931372463	7	E>*		No	ClinGen Ensembl
TCGA novel	8	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345925643 rs1572366904	9	F>L		No	ClinGen Ensembl
rs1262059536 CA345925634	10	S>P		No	ClinGen gnomAD
CA345925621 rs1410203327	12	P>S		No	ClinGen TOPMed
rs750693895 CA1540270	13	K>I		No	ClinGen ExAC gnomAD
TCGA novel	14	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446533648 CA345925597	15	A>V		No	ClinGen TOPMed gnomAD
rs1244218420 CA345925595	16	K>Q		No	ClinGen gnomAD
CA1540268 rs757414392	18	P>R		No	ClinGen ExAC TOPMed gnomAD
CA1540269 rs371477087	18	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208733165 CA345925559	20	Q>*		No	ClinGen gnomAD
rs764064850 CA1540266	23	L>S		No	ClinGen ExAC gnomAD
TCGA novel	24	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1540265 rs759585478	25	D>A		No	ClinGen ExAC gnomAD
CA43385411 rs751033165	25	D>N		No	ClinGen Ensembl
CA345925500 rs759585478	25	D>V		No	ClinGen ExAC gnomAD
TCGA novel	26	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345925483 rs1415611162	27	D>Y		No	ClinGen TOPMed gnomAD
CA43385392 rs376284298	30	G>D		No	ClinGen ESP TOPMed
CA345925427 rs143324489	31	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772884897 CA1540261	32	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1485213664 CA345925412	33	D>G		No	ClinGen TOPMed gnomAD
CA1540260 rs769371653	33	D>N		No	ClinGen ExAC gnomAD
rs1485213664 CA345925411	33	D>V		No	ClinGen TOPMed gnomAD
rs372359164 COSM1631478 CA345925407	34	E>*	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs372359164 CA1540258	34	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1540257 rs768050546	36	K>T		No	ClinGen ExAC gnomAD
CA345925384 rs1225160643	37	G>D		No	ClinGen TOPMed
CA1540255 rs780655177	37	G>R		No	ClinGen ExAC gnomAD
CA1540254 rs140231302	38	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs143978525 CA1540253	38	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1558383374 CA345925376	39	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA345925372 rs1480650779	39	T>I		No	ClinGen gnomAD
CA345925371 rs1234003672	40	L>M		No	ClinGen gnomAD
CA1540252 rs370626782	40	L>S		No	ClinGen ESP ExAC gnomAD
rs369375763 CA1540229	42	A>E		No	ClinGen ESP ExAC gnomAD
CA345924856 rs1175347184	42	A>T		No	ClinGen TOPMed
CA1540228 rs369375763	42	A>V		No	ClinGen ESP ExAC gnomAD
CA1540227 rs756248994	48	I>L		No	ClinGen ExAC TOPMed gnomAD
CA43382846 rs756248994	48	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1453991091 CA345924760	50	S>N		No	ClinGen gnomAD
CA1540226 rs375349809	51	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA345924697 rs1156334660	55	N>D		No	ClinGen gnomAD
CA43382813 rs971483502	56	F>L		No	ClinGen Ensembl
CA1540222 CA345924635 rs750358192	61	M>I		No	ClinGen ExAC gnomAD
CA1540223 rs758391832	61	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1305992969 CA345924621	64	P>T		No	ClinGen TOPMed
rs1486323156 CA345924588	68	G>D		No	ClinGen gnomAD
rs113967991 CA1540217	71	V>A		No	ClinGen ExAC gnomAD
CA1540218 rs763583977	71	V>I		No	ClinGen ExAC gnomAD
CA1540216 rs775196672	72	N>S		No	ClinGen ExAC gnomAD
rs1329199652 CA345924553	74	V>I		No	ClinGen TOPMed gnomAD
CA345924531 rs1382520743	77	N>S		No	ClinGen gnomAD
rs1572353794 CA345923546	82	K>N		No	ClinGen Ensembl
rs1159236308 CA345923531	84	A>V		No	ClinGen gnomAD
rs1572353774 CA345923512	88	A>T		No	ClinGen Ensembl
TCGA novel	91	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA43378699 rs112103259	94	G>D		No	ClinGen Ensembl
CA43378693 rs749243387	95	G>*		No	ClinGen ExAC TOPMed gnomAD
CA1540174 rs749243387	95	G>R		No	ClinGen ExAC TOPMed gnomAD
rs777466789 CA1540173	96	R>K		No	ClinGen ExAC gnomAD
rs755950894 CA345923404	101	N>D		No	ClinGen ExAC gnomAD
COSM1613749 CA1540172 rs755950894	101	N>H	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1219026185 CA345923396	101	N>K		No	ClinGen gnomAD
CA345923387 rs1450699118	102	R>S		No	ClinGen gnomAD
CA345923369 rs1350825371	105	S>C		No	ClinGen gnomAD
CA345923317 rs1307780830	112	D>E		No	ClinGen gnomAD
rs767239421 CA1540170	115	N>S		No	ClinGen ExAC gnomAD
rs1217867918 CA345921675	119	I>T		No	ClinGen TOPMed gnomAD
rs1454044505 CA345921653	121	I>V		No	ClinGen gnomAD
TCGA novel	126	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271048758 CA345921533	128	D>H		No	ClinGen gnomAD
CA345921527 rs1402070367	128	D>V		No	ClinGen gnomAD
CA43373805 rs972450482	130	A>D		No	ClinGen TOPMed gnomAD
rs769742706 CA1540154	132	K>N		No	ClinGen ExAC gnomAD
CA345921445 rs1360857081 COSM1325744	133	A>T	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA345921420 rs1173829540	134	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA43373800 rs1012257675	134	S>R		No	ClinGen Ensembl
rs747884975 CA1540153	135	V>M		No	ClinGen ExAC gnomAD
TCGA novel	136	Y>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476639004 CA345921332	140	I>M		No	ClinGen gnomAD
rs1261949649 CA345921294	142	I>T		No	ClinGen gnomAD
rs751222493 CA1540150	145	H>Y		No	ClinGen ExAC gnomAD
rs547849967 CA43373782	146	I>S		No	ClinGen 1000Genomes
rs1294248729 CA345921187	147	S>N		No	ClinGen TOPMed
CA1540149 rs201328220	147	S>R		No	ClinGen ExAC TOPMed gnomAD
CA43373748 rs1003651703	148	I>K		No	ClinGen Ensembl
rs1208619260 CA345921077	151	S>T		No	ClinGen gnomAD
TCGA novel	152	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312044474 CA345921028	154	Y>C		No	ClinGen gnomAD
rs1290946239 CA345920979	156	L>V		No	ClinGen TOPMed
rs1220782032 CA345920964	157	K>Q		No	ClinGen gnomAD
CA345920947 rs1316319845	157	K>R		No	ClinGen gnomAD
rs750920020 CA1540147	160	T>R		No	ClinGen ExAC gnomAD
CA43373114 rs922000952	162	S>C		No	ClinGen TOPMed
CA345920566 CA345920567 rs377163344	163	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1540128 rs377163344	163	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA345920367 COSM717578 rs1558370701	170	E>D	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA1540126 rs749886913	172	I>M		No	ClinGen ExAC gnomAD
rs1173718133 CA345920269	174	I>N		No	ClinGen Ensembl
CA345920217 rs1438292770	175	L>R		No	ClinGen gnomAD
CA345920208 rs1245253023	176	D>H		No	ClinGen gnomAD
TCGA novel	180	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1454211031 CA345920086	181	Q>R		No	ClinGen TOPMed
rs756735940 CA1540106	185	P>L		No	ClinGen ExAC gnomAD
rs778431860 CA1540107	185	P>T		No	ClinGen ExAC gnomAD
CA345919210 rs1384297741	186	V>I		No	ClinGen gnomAD
CA345919071 rs1384917477	191	Q>R		No	ClinGen gnomAD
CA1540105 rs749816499	194	S>G		No	ClinGen ExAC gnomAD
CA1540104 rs778211348	195	K>R		No	ClinGen ExAC gnomAD
rs1422438172 CA345918850	199	Q>R		No	ClinGen gnomAD
CA345918758 rs1175709347	201	K>E		No	ClinGen gnomAD
CA1540103 rs756439440	201	K>R		No	ClinGen ExAC gnomAD
CA1540102 rs753047982	203	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1540101 rs767761484	204	G>E		No	ClinGen ExAC gnomAD
rs991902905 CA43369113	205	D>H		No	ClinGen Ensembl
CA1540099 rs751802647	208	K>R		No	ClinGen ExAC gnomAD
rs1197614431 CA345918283	209	F>C		No	ClinGen gnomAD
CA1540075 rs765223914	213	A>T		No	ClinGen ExAC gnomAD
CA345918212 rs1183982041	214	T>A		No	ClinGen TOPMed
CA1540074 rs760703737	214	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs370871668 CA1540072	215	Q>E		No	ClinGen ESP ExAC gnomAD
CA1540070 rs773995930	219	M>L		No	ClinGen ExAC gnomAD
rs1428052717 CA345917985	226	I>V		No	ClinGen TOPMed
CA1540067 rs186144384	227	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs762580775 CA1540068	227	M>V		No	ClinGen ExAC gnomAD
rs769156363 CA1540066	228	E>G		No	ClinGen ExAC gnomAD
rs1168270068 CA345917917	229	T>A		No	ClinGen TOPMed
rs748740216 CA1540065	229	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781505061 CA1540064	231	E>D		No	ClinGen ExAC gnomAD
CA345917754 rs1441379971	238	H>Y		No	ClinGen gnomAD
rs962766065 CA43368314	239	Q>*		No	ClinGen Ensembl
rs940714393 COSM1226838 CA43368288	240	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
COSM1010020 rs777222919 CA1540046	243	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1540047 rs761159442	243	R>W		No	ClinGen ExAC TOPMed gnomAD
CA345916943 rs1398277814	244	L>F		No	ClinGen TOPMed
CA345916905 rs1346125916	245	T>I		No	ClinGen TOPMed gnomAD
CA345916911 rs1346125916	245	T>S		No	ClinGen TOPMed gnomAD
CA345916900 rs1342448308	246	E>K		No	ClinGen TOPMed
rs769232499 CA1540045	247	L>V		No	ClinGen ExAC gnomAD
rs373857118 CA1540044 COSM441548	249	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1540043 rs780636688	249	R>H		No	ClinGen ExAC gnomAD
rs1298903248 CA345916803	250	Q>R		No	ClinGen gnomAD
CA1540042 rs772554984	251	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1317526518 CA345916757	252	V>I		No	ClinGen gnomAD
TCGA novel	253	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345916732 rs922891802 CA43365908	253	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1408873053 CA345916735	253	E>G		No	ClinGen gnomAD
CA345916721 rs1170523600	254	K>T		No	ClinGen TOPMed gnomAD
rs778937504 CA1540040	255	E>G		No	ClinGen ExAC gnomAD
rs749279007 CA1540038	257	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	257	R>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777809318 CA1540037	257	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1540036 rs754947981	261	I>V		No	ClinGen ExAC gnomAD
rs751493871 CA1540035	262	A>P		No	ClinGen ExAC gnomAD
rs766218501 CA1540034	262	A>V		No	ClinGen ExAC gnomAD
CA345916539 rs1281177819	263	G>D		No	ClinGen gnomAD
CA345916537 COSM247468 rs1281177819	263	G>V	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1323126241 CA345916491	266	T>K		No	ClinGen gnomAD
CA345916473 rs1220593742 COSM461293	267	M>I	cervix [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1540033 rs758129811	267	M>T		No	ClinGen ExAC gnomAD
rs1338500150 CA345916468	268	K>*		No	ClinGen gnomAD
CA345916428 rs1428308439	270	N>H		No	ClinGen gnomAD
TCGA novel	271	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	273	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764753490 CA1540031	273	S>Y		No	ClinGen ExAC gnomAD
CA345916340 rs1331975747	276	H>R		No	ClinGen gnomAD
CA345916342 rs1237338507	276	H>Y		No	ClinGen TOPMed
rs761404595 CA1540030	277	E>K		No	ClinGen ExAC gnomAD
CA345916302 rs1400628633	279	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA345916161 rs1184919402	283	V>I		No	ClinGen gnomAD
CA1540008 rs377589538	284	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM258066 rs1237183875 CA345916113	285	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1540007 rs768090372	287	E>G		No	ClinGen ExAC gnomAD
CA1540006 rs139308239	288	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs771321497 CA1540004	289	Q>*		No	ClinGen ExAC gnomAD
rs373166234 CA1540002	291	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs749529414 CA1540003	291	N>S		No	ClinGen ExAC gnomAD
VAR_035875	292	A>V	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA1540001 rs769866038	293	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1477073309 CA345915918	294	R>T		No	ClinGen TOPMed
rs930693474 CA43365696	295	D>N		No	ClinGen Ensembl
rs143491485 CA1539999	296	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1539997 rs771948461	297	I>T		No	ClinGen ExAC
rs1374467093 CA345915799	299	I>T		No	ClinGen gnomAD
rs745782612 CA1539996	299	I>V		No	ClinGen ExAC TOPMed gnomAD
CA43365668 rs879014326	303	R>C		No	ClinGen gnomAD
rs369105254 CA1539994	303	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	306	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345915581 rs1424729233	308	D>H		No	ClinGen gnomAD
CA345915525 rs1381647647	309	R>S		No	ClinGen TOPMed
CA345915481 rs1301883713	311	M>K		No	ClinGen TOPMed
rs1379208208 CA345915494	311	M>V		No	ClinGen gnomAD
CA345915438 rs1156427593	312	E>K		No	ClinGen gnomAD
rs756153384 CA43359193	316	V>I		No	ClinGen Ensembl
CA1539978 rs778847739	318	L>V		No	ClinGen ExAC gnomAD
rs770666623 CA1539977	319	N>I		No	ClinGen ExAC gnomAD
CA345914260 rs1261054059	320	E>A		No	ClinGen gnomAD
CA1539976 rs749046123	320	E>K		No	ClinGen ExAC gnomAD
rs1486275118 CA345914241	321	A>V		No	ClinGen gnomAD
rs755873189 CA1539974	322	E>D		No	ClinGen ExAC gnomAD
rs1255617622 CA345914239	322	E>K		No	ClinGen TOPMed gnomAD
rs1326064960 CA345914202	324	K>N		No	ClinGen gnomAD
rs1231229326 CA345914191	325	Y>*		No	ClinGen gnomAD
CA1539973 rs183894580	328	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780624966 CA1539972	331	K>N		No	ClinGen ExAC TOPMed gnomAD
rs996361426 CA43359109	333	E>K		No	ClinGen TOPMed
rs1339111605 CA345914070	334	K>R		No	ClinGen gnomAD
rs754452106 CA1539971	335	I>F		No	ClinGen ExAC TOPMed gnomAD
CA345914054 rs1558359659	335	I>M		No	ClinGen Ensembl
rs752012081 CA1539970	336	S>N		No	ClinGen ExAC TOPMed gnomAD
CA345913979 rs1467940033	341	A>S		No	ClinGen gnomAD
CA1539969 rs766867799	342	R>*		No	ClinGen ExAC TOPMed gnomAD
rs766867799 CA345913971	342	R>G		No	ClinGen ExAC TOPMed gnomAD
rs763328076 CA1539968	342	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1042145084 CA43359073	343	A>G		No	ClinGen TOPMed
CA43359067 rs753582610	346	C>R		No	ClinGen Ensembl
CA1539966 rs765551125	347	M>I		No	ClinGen ExAC gnomAD
CA1539965 rs762086918	348	A>S		No	ClinGen ExAC gnomAD
TCGA novel	348	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs943841187 CA43359046	351	A>V		No	ClinGen TOPMed gnomAD
CA1539963 rs576133663	352	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375085487 CA1539962	355	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1539961 rs200467297	358	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1539960 rs200467297	358	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs945864382 CA43359034	359	A>T		No	ClinGen TOPMed
CA345913713 rs1280747970	360	Y>*		No	ClinGen gnomAD
rs773207688 CA1539958	360	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs747932996 CA1539937	366	L>S		No	ClinGen ExAC TOPMed gnomAD
CA345913402 rs1268372497	367	Y>*		No	ClinGen TOPMed
CA1539935 rs371997081	367	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA345913386 rs1333728122 COSM1010013	369	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs149967721 CA1539934	369	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149967721 CA345913385	369	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149967721 CA1539933	369	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1539932 rs367969244	370	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs758369471 CA43357916 COSM1176765	373	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA345913271 rs1454581045	374	Y>C		No	ClinGen TOPMed gnomAD
CA345913275 rs1426610547	374	Y>H		No	ClinGen gnomAD
CA43357914 rs923077003	376	A>G		No	ClinGen Ensembl
CA43357912 rs111857521	378	K>R		No	ClinGen TOPMed gnomAD
CA1539930 rs779356516	380	D>G		No	ClinGen ExAC gnomAD
CA1539929 rs757643474	382	E>K		No	ClinGen ExAC gnomAD
rs1182998476 CA345913094	384	L>F		No	ClinGen gnomAD
COSM1010011 CA1539927 rs764336831	387	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752829737 CA1539926	387	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA345913034 rs1400313433	389	E>K		No	ClinGen gnomAD
rs1406085973 CA345913024	390	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1039106574 CA43357867	394	S>I		No	ClinGen TOPMed
rs761535042	394	S>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA43357651 rs1001721550	395	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1281174542 CA345912871	395	T>S		No	ClinGen gnomAD
rs139941542 CA1539905	403	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139941542 CA1539904	403	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1539906 rs752968506	403	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1379530290 CA345912680	404	L>S		No	ClinGen TOPMed
CA345912659 rs1347092194	405	E>*		No	ClinGen gnomAD
rs751737089 CA1539903	405	E>D		No	ClinGen ExAC TOPMed
CA345912639 rs1319197828	406	R>G		No	ClinGen gnomAD
CA345912620 rs1414155644	406	R>K		No	ClinGen gnomAD
CA345912612 rs1414155644	406	R>T		No	ClinGen gnomAD
CA345912606 rs1404305757	407	Q>K		No	ClinGen TOPMed gnomAD
CA345912588 rs1321468253	407	Q>L		No	ClinGen TOPMed
TCGA novel	409	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766533057 CA1539902	409	K>R		No	ClinGen ExAC TOPMed gnomAD
CA345912519 rs1558358174	410	I>K		No	ClinGen Ensembl
rs971842913 CA43357627	410	I>L		No	ClinGen Ensembl
rs961902804 CA43357586	410	I>M		No	ClinGen Ensembl
rs760667210	410	I>N	Variant assessed as Somatic; 0.0001011 impact. [NCI-TCGA]	No	NCI-TCGA
rs760667210	410	I>Y	Variant assessed as Somatic; 0.0004045 impact. [NCI-TCGA]	No	NCI-TCGA
rs1423534612 CA345912459	411	S>P		No	ClinGen gnomAD
CA345912431 rs1428398377	412	W>S		No	ClinGen gnomAD
TCGA novel	415	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761874486 CA1539898	415	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	419	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1014096304 CA43357571	419	A>T		No	ClinGen TOPMed gnomAD
CA345912199 rs1243385277	419	A>V		No	ClinGen gnomAD
rs763959426 CA1539896	420	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1320524744 CA345912140	422	N>S		No	ClinGen gnomAD
CA1539895 rs760350724	423	Q>K		No	ClinGen ExAC gnomAD
CA345912035 rs1558358094	425	N>H		No	ClinGen Ensembl
CA1539894 rs144572982	426	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA345911970 rs1324081648	426	S>P		No	ClinGen gnomAD
CA345911929 rs1446928738	427	V>G		No	ClinGen gnomAD
CA1539893 rs771763705	428	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1169156998 CA345911908	429	Q>E		No	ClinGen TOPMed
rs958888447 CA43357548	429	Q>R		No	ClinGen gnomAD
CA345911842 rs1372259940	430	E>D		No	ClinGen TOPMed
rs199917843 CA1539891	431	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868194373 CA43357541	431	I>S		No	ClinGen Ensembl
CA345911837 rs1447501648	431	I>V		No	ClinGen gnomAD
CA1539890 rs770335677	432	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1470499181 CA345911780	433	Q>R		No	ClinGen gnomAD
CA345911660 rs1400089381	436	Q>K		No	ClinGen gnomAD
rs1412161363 CA345911631	437	A>D		No	ClinGen gnomAD
CA1539889 rs749815827	437	A>T		No	ClinGen ExAC gnomAD
CA1539888 rs778076544	438	I>M		No	ClinGen ExAC gnomAD
CA43357488 rs534834201	438	I>V		No	ClinGen TOPMed gnomAD
CA345911583 rs1449833163	439	E>D		No	ClinGen TOPMed
rs1244260870 CA345911549	441	D>E		No	ClinGen gnomAD
CA43357468 rs535788427	443	E>G		No	ClinGen 1000Genomes
CA1539887 rs770225535	443	E>K		No	ClinGen ExAC
rs781671714 CA1539885	445	H>R		No	ClinGen ExAC gnomAD
CA1539886 rs748474097	445	H>Y		No	ClinGen ExAC gnomAD
rs1461582349 CA345911380	448	I>V		No	ClinGen TOPMed gnomAD
CA1539866 rs747245558	455	V>M		No	ClinGen ExAC TOPMed gnomAD
CA345910250 rs560144562	457	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1539864 rs560144562	457	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1539863 rs745986184	458	A>E		No	ClinGen ExAC gnomAD
rs1363796244 CA345910210	460	S>R		No	ClinGen gnomAD
rs1303046068 CA345910204	461	Y>C		No	ClinGen gnomAD
CA1539860 VAR_052441 rs35195207	464	R>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	465	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345909981 rs1156565692	470	K>E		No	ClinGen gnomAD
CA345909943 rs1420632950	471	D>G		No	ClinGen TOPMed gnomAD
CA345909909 rs1460260721	472	S>N		No	ClinGen TOPMed
CA1539857 rs751244792	476	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1539855 rs765897987	476	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	478	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1345149552 CA345909799	478	K>E		No	ClinGen gnomAD
rs1301317886 CA345909758	479	R>S		No	ClinGen gnomAD
CA1539852 rs764798796	481	G>S		No	ClinGen ExAC TOPMed gnomAD
CA1539850 rs185599983	482	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1539849 rs371066120	482	P>L		No	ClinGen ESP ExAC gnomAD
CA43356862 rs185599983	482	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317858763 CA345909720	483	N>H		No	ClinGen gnomAD
CA43356854 rs1036047201	484	V>I		No	ClinGen Ensembl
rs1283073610 CA345909680	485	P>A		No	ClinGen gnomAD
CA345909675 rs1572319422	485	P>Q		No	ClinGen Ensembl
rs113186456 CA43356829	488	L>P		No	ClinGen Ensembl
rs747335279 CA1539848	489	E>K		No	ClinGen ExAC gnomAD
rs772226192 CA1539846	491	I>L		No	ClinGen ExAC gnomAD
rs772226192 CA1539847	491	I>V		No	ClinGen ExAC gnomAD
rs746103024 CA1539845	492	D>N		No	ClinGen ExAC TOPMed gnomAD
rs778921110 CA1539844	493	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1286724854 CA345909500	496	R>G		No	ClinGen gnomAD
CA1539842 rs748082634	497	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781069670 CA1539841	498	G>R		No	ClinGen ExAC gnomAD
rs1408775484 CA345909447	499	H>Y		No	ClinGen gnomAD
CA43356763 rs981390684	502	Y>C		No	ClinGen TOPMed gnomAD
rs981390684 CA345909388	502	Y>S		No	ClinGen TOPMed gnomAD
rs1048838642 CA43356759	505	V>I		No	ClinGen Ensembl
CA1539823 rs771032216	510	A>V		No	ClinGen ExAC gnomAD
CA345909076 rs1172634059	511	C>S		No	ClinGen TOPMed gnomAD
CA345909078 rs1172634059	511	C>Y		No	ClinGen TOPMed gnomAD
rs777807384 CA1539821	512	I>V		No	ClinGen ExAC gnomAD
rs202190810 CA1539820	515	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760507314 CA43355723	515	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	516	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345908967 rs1244163133	516	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1195680636 CA345908916	517	P>T		No	ClinGen gnomAD
rs1249043284 CA345908816	522	A>T		No	ClinGen gnomAD
rs377539566 CA1539818	523	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA345908797 rs1313893484	524	E>*		No	ClinGen gnomAD
CA1539816 rs750045170	525	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA345908716 rs1390686891	527	L>F		No	ClinGen gnomAD
CA1539813 COSM1010006 rs753442826	533	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA43355671 rs1040446623	534	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs908011618 CA43355655	537	H>R		No	ClinGen gnomAD
rs753193321 CA1539810	538	N>I		No	ClinGen ExAC gnomAD
CA345908373 rs753193321	538	N>S		No	ClinGen ExAC gnomAD
rs1253264818 CA345908301	540	A>D		No	ClinGen gnomAD
CA1539808 rs759905946	543	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1243251114 CA345908170	544	V>L		No	ClinGen gnomAD
CA1539807 rs771193533	545	L>F		No	ClinGen ExAC gnomAD
rs771193533 CA1539806	545	L>V		No	ClinGen ExAC gnomAD
CA345908134 rs1383827124	547	A>S		No	ClinGen TOPMed
CA345908124 rs1368381869	547	A>V		No	ClinGen gnomAD
CA345908115 rs1292872773	548	L>R		No	ClinGen TOPMed
CA1539804 rs145642076	550	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	551	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1572316548 CA345908035	551	R>T		No	ClinGen Ensembl
CA1539803 COSM308156 rs769850777	553	Y>C	biliary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1025757359 CA43355636	555	P>R		No	ClinGen TOPMed
CA1539802 rs746932481	556	G>R		No	ClinGen ExAC gnomAD
rs1391717410 CA345907928	558	S>L		No	ClinGen gnomAD
CA345907923 rs1468900060	559	R>Q		No	ClinGen gnomAD
CA1539800 rs771792730	559	R>W		No	ClinGen ExAC gnomAD
rs745624947 CA1539799	561	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA345907783 rs1487167440	568	R>L		No	ClinGen TOPMed
CA345907786 rs1487167440	568	R>Q		No	ClinGen TOPMed
rs201267935 CA43355607	568	R>W		No	ClinGen TOPMed
TCGA novel	570	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767430165 CA43355600	571	I>M		No	ClinGen TOPMed gnomAD
CA1539797 rs192935709	571	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345907728 rs1262295241	572	Y>*		No	ClinGen TOPMed gnomAD
rs753531110 CA1539796	572	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA345907717 rs1228867922	573	D>G		No	ClinGen gnomAD
CA345907724 rs1171777661	573	D>N		No	ClinGen gnomAD
CA1539780 rs774348536	578	A>T		No	ClinGen ExAC gnomAD
rs1354458842 CA345906668	590	A>T		No	ClinGen gnomAD
rs770796475 CA1539778	592	E>V		No	ClinGen ExAC gnomAD
CA1539777 COSM1010002 rs748956536	596	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1453557091 CA345906564	598	V>G		No	ClinGen TOPMed
CA43350082 rs970333996 CA345906570	598	V>L		No	ClinGen TOPMed
TCGA novel	599	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345906519 rs1219721706	603	I>V		No	ClinGen TOPMed
rs1246344898 CA345906447	608	I>T		No	ClinGen TOPMed
rs755602821 CA1539775	610	T>A		No	ClinGen ExAC gnomAD
rs1232215191 CA345906373	615	K>E		No	ClinGen TOPMed gnomAD
rs755574015 CA1539772	615	K>N		No	ClinGen ExAC gnomAD
rs1202408223 CA345906369	615	K>R		No	ClinGen gnomAD
CA345905756 rs1389667494	617	N>D		No	ClinGen TOPMed
rs764242372 CA43348651	618	S>F		No	ClinGen ExAC gnomAD
CA1539747 rs764242372	618	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs868095354 CA43348638	620	A>V		No	ClinGen Ensembl
CA1539746 rs760801745	623	V>A		No	ClinGen ExAC gnomAD
CA345905583 rs1364928747 COSM215842	624	M>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1316478378 CA345905544	625	Q>*		No	ClinGen TOPMed
rs1324506836 CA345905540	625	Q>R		No	ClinGen TOPMed
CA43348616 rs369819937	626	S>F		No	ClinGen ESP TOPMed gnomAD
CA345905409 rs1325541701	631	K>Q		No	ClinGen TOPMed
CA345905401 rs1479964684	631	K>R		No	ClinGen Ensembl
TCGA novel	631	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	632	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1539743 rs762954628	633	C>F		No	ClinGen ExAC gnomAD
CA345905340 rs1458681423	634	R>G		No	ClinGen TOPMed gnomAD
CA345905280 rs1198661754	636	A>G		No	ClinGen gnomAD
rs773128562 CA1539742	640	D>E		No	ClinGen ExAC gnomAD
CA345905167 rs1558350214	641	G>S		No	ClinGen Ensembl
rs1191940457 CA345905076	644	V>A		No	ClinGen gnomAD
rs369318236 CA1539740	646	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369318236 CA1539739	646	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345905023 rs1244718110	646	A>V		No	ClinGen gnomAD
CA345904977 rs1240655084	648	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1259197644 CA345904893	652	S>F		No	ClinGen TOPMed
rs1330309396 CA345904816	655	T>I		No	ClinGen gnomAD
CA345904828 rs1446839420	655	T>P		No	ClinGen TOPMed
CA1539736 rs779513303	656	R>G		No	ClinGen ExAC gnomAD
CA345904782 rs1302789190	657	P>A		No	ClinGen gnomAD
rs1386927545 CA345904772	657	P>R		No	ClinGen gnomAD
rs746363577 CA1539733	662	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1175816541 CA345904591	665	D>N		No	ClinGen TOPMed
rs1175563943 CA345904544	667	E>K		No	ClinGen gnomAD
rs1396987199 CA345903439	670	D>E		No	ClinGen gnomAD
rs1461520639 CA345903403	672	E>G		No	ClinGen gnomAD
rs1572292864 CA345903340	673	N>I		No	ClinGen Ensembl
rs779256907 CA1539715	676	E>Q		No	ClinGen ExAC gnomAD
rs1384932793 CA345903245 CA345903247	677	N>K		No	ClinGen gnomAD
CA1539714 rs771516325	677	N>S		No	ClinGen ExAC gnomAD
CA1539712 rs779252487	678	K>N		No	ClinGen ExAC gnomAD
rs746393867 CA1539713	678	K>R		No	ClinGen ExAC TOPMed gnomAD
rs374943544 CA1539711	679	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1539708 rs756473163	683	L>I		No	ClinGen ExAC gnomAD
CA43345527 rs199960484	685	L>P		No	ClinGen Ensembl
CA1539707 rs371569631	687	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1199610164 CA345903069	688	H>N		No	ClinGen TOPMed
CA345903054 rs1240390052	688	H>Q		No	ClinGen TOPMed
rs1065381 CA1539706 VAR_029826	691	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs940016773 CA43345507	691	A>V		No	ClinGen Ensembl
rs755040745 CA345902976	693	E>A		No	ClinGen ExAC TOPMed gnomAD
rs755040745 CA1539705	693	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	695	D>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1539704 rs750405878	696	I>T		No	ClinGen ExAC gnomAD
rs1414696380 CA345902919	696	I>V		No	ClinGen TOPMed
rs765035959 CA1539703	697	K>Q		No	ClinGen ExAC gnomAD
rs369480332 CA1539702	701	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1417364204 CA345902668	708	L>P		No	ClinGen TOPMed
CA345902663 rs1387039273	709	H>R		No	ClinGen gnomAD
rs527298898 CA43345497	709	H>Y		No	ClinGen 1000Genomes TOPMed
CA1539701 rs753612239	710	Y>F		No	ClinGen ExAC gnomAD
rs1187932089 CA345902654	710	Y>H		No	ClinGen gnomAD
rs1356062394 CA345902608	712	E>Q		No	ClinGen TOPMed
CA345902381 COSM389332 rs1273162940	715	M>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs763883323 CA1539675	715	M>V		No	ClinGen ExAC gnomAD
CA345902353 rs1438789455	717	I>T		No	ClinGen gnomAD
CA345902286 rs1331895607	721	I>F		No	ClinGen gnomAD
CA345902279 rs1317973083	721	I>N		No	ClinGen TOPMed gnomAD
TCGA novel	722	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	724	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1539674 rs189584906	725	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA345902222 rs1433315814	725	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1539673 rs752372107	726	E>G		No	ClinGen ExAC gnomAD
rs1170293792 CA345902165	730	I>T		No	ClinGen gnomAD
rs1478760152 CA345902147	732	E>Q		No	ClinGen gnomAD
rs1187586672 CA345902126	733	H>R		No	ClinGen gnomAD
rs767210375 CA1539672	733	H>Y		No	ClinGen ExAC gnomAD
CA1539671 rs759195489	734	Q>P		No	ClinGen ExAC gnomAD
CA1539670 rs773801158	736	V>A		No	ClinGen ExAC gnomAD
rs1032528860 CA43344355	737	D>A		No	ClinGen TOPMed
rs755856150 CA43343057	743	D>G		No	ClinGen gnomAD
rs755856150 CA345901900	743	D>V		No	ClinGen gnomAD
rs749256786 CA1539659	745	A>T		No	ClinGen ExAC gnomAD
CA1539658 rs777639840	746	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs777639840 CA345901867	746	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1274032130 CA345901841	748	N>S		No	ClinGen gnomAD
CA43343026 rs978083277	750	S>N		No	ClinGen TOPMed gnomAD
rs1342413318 CA345901807	752	M>T		No	ClinGen TOPMed
CA1539656 rs575124021 CA1539655	754	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	755	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs919502877 CA43343020	758	H>R		No	ClinGen Ensembl
rs111884371 CA43343008	759	M>T		No	ClinGen Ensembl
rs768798034 CA43343014	759	M>V		No	ClinGen Ensembl
TCGA novel	762	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286431323 CA345901648	764	E>K		No	ClinGen gnomAD
CA1539652 rs765808400	765	N>S		No	ClinGen ExAC gnomAD
rs762482822 CA1539651	766	M>T		No	ClinGen ExAC gnomAD
TCGA novel	767	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1539649 rs765890345	768	H>L		No	ClinGen ExAC gnomAD
CA1539647 rs777201995	769	L>F		No	ClinGen ExAC gnomAD
CA1539648 rs777201995	769	L>V		No	ClinGen ExAC gnomAD
CA43342960 rs1022829608	774	I>M		No	ClinGen TOPMed gnomAD
CA345901502 rs1371096267	774	I>T		No	ClinGen TOPMed gnomAD
CA43342953 rs559954325	775	E>K		No	ClinGen Ensembl
rs1247495210 CA345901442	778	N>K		No	ClinGen TOPMed
CA1539646 rs769051265	781	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1433802640 CA345901407	781	D>N		No	ClinGen TOPMed
rs895342727 CA43342942	782	A>T		No	ClinGen TOPMed
CA1539645 rs760819580	783	I>V		No	ClinGen ExAC gnomAD
rs1180090789 CA345901362	786	K>R		No	ClinGen gnomAD
CA345901363 rs1180090789	786	K>T		No	ClinGen gnomAD
CA43342929 rs1035189890	787	I>M		No	ClinGen TOPMed
rs963642088 CA43342926	788	N>H		No	ClinGen TOPMed
CA1539644 rs775743859	788	N>I		No	ClinGen ExAC TOPMed gnomAD
CA1539643 rs772068823	789	Q>R		No	ClinGen ExAC gnomAD
rs769793573 CA345901330	791	S>*		No	ClinGen ExAC TOPMed gnomAD
rs769793573 CA1539640	791	S>L		No	ClinGen ExAC TOPMed gnomAD
CA345901305 rs1287067083	795	D>E		No	ClinGen gnomAD
CA1539638 rs780866103	795	D>G		No	ClinGen ExAC gnomAD
CA345901301 rs1302720201	796	P>S		No	ClinGen TOPMed
CA43342895 rs959775356	797	L>V		No	ClinGen Ensembl
TCGA novel	798	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1539617 rs746483901	800	E>A		No	ClinGen ExAC gnomAD
CA43339942 rs762044165	803	L>I		No	ClinGen Ensembl
rs1016679216 CA345901209	807	E>D		No	ClinGen TOPMed gnomAD
CA1539616 rs758191510	809	D>A		No	ClinGen ExAC TOPMed gnomAD
rs745501084 CA1539615	810	N>D		No	ClinGen ExAC gnomAD
rs778578417 CA1539614	812	K>R		No	ClinGen ExAC TOPMed gnomAD
rs756759148 CA1539613	813	R>*		No	ClinGen ExAC gnomAD
rs376302946 CA345901171	813	R>L		No	ClinGen ESP ExAC gnomAD
rs376302946 CA1539612	813	R>Q		No	ClinGen ESP ExAC gnomAD
CA1539611 rs764711697	816	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs527433587 CA1539610	816	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345901151 rs1192033771	817	H>Y		No	ClinGen gnomAD
rs561822628 CA1539608	818	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs561822628 CA1539609	818	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1464695969 CA345901145	818	Y>N		No	ClinGen gnomAD
CA1539606 rs774493900	820	E>K		No	ClinGen ExAC gnomAD
rs766480400 CA1539605	822	Q>K		No	ClinGen ExAC gnomAD
rs762969521 CA1539604	824	E>K		No	ClinGen ExAC gnomAD
CA345901089 rs1278536878	825	H>L		No	ClinGen TOPMed
CA345901079 rs773140545	827	D>H		No	ClinGen ExAC gnomAD
CA1539603 rs773140545	827	D>N		No	ClinGen ExAC gnomAD
TCGA novel	828	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768675379 CA1539602	830	N>K		No	ClinGen ExAC gnomAD
CA1539601 rs746912004	831	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745519285 CA1539599	832	K>R		No	ClinGen ExAC gnomAD
CA1539598 rs745519285	832	K>T		No	ClinGen ExAC gnomAD
CA1539596 rs372372204	834	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777144088 CA1539594	837	D>N		No	ClinGen ExAC gnomAD
rs1256033530 CA345900982	838	M>I		No	ClinGen TOPMed gnomAD
rs1211583114 CA345900992	838	M>V		No	ClinGen TOPMed
CA345900966 rs1482718128	839	K>I		No	ClinGen TOPMed
TCGA novel	840	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375686324 CA1539593	843	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1265742181 CA345900900	844	E>Q		No	ClinGen TOPMed
rs1323419913 CA345900590	846	K>T		No	ClinGen gnomAD
CA43339127 rs199660298	849	Q>R		No	ClinGen Ensembl
rs770774262 CA1539578	850	A>V		No	ClinGen ExAC gnomAD
rs769123367 CA1539575	853	I>V		No	ClinGen ExAC gnomAD
CA345900525 rs1419181440	855	P>L		No	ClinGen gnomAD
CA1539571 rs755452714	857	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1539569 rs780388886	857	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780388886 CA1539570	857	R>L		No	ClinGen ExAC TOPMed gnomAD
rs758700751 CA1539568	858	I>V		No	ClinGen ExAC
TCGA novel	861	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1539567 rs750553094	862	K>N		No	ClinGen ExAC gnomAD
rs765363492 CA345900475	863	S>C		No	ClinGen ExAC TOPMed gnomAD
CA1539566 rs765363492	863	S>F		No	ClinGen ExAC TOPMed gnomAD
rs377206916 CA1539565	864	A>P		No	ClinGen ESP ExAC gnomAD
CA1539564 rs377206916	864	A>S		No	ClinGen ESP ExAC gnomAD
CA1539563 rs767603537	864	A>V		No	ClinGen ExAC
TCGA novel	867	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1539561 rs200291411	868	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs373639327 CA43339037	869	K>E		No	ClinGen ESP TOPMed gnomAD
CA345900429 rs1227734596	871	I>V		No	ClinGen gnomAD
CA1539559 rs539254965	873	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs539254965 CA345900415	873	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs376420347 COSM1009994 CA1539558	873	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs769372280 CA1539557	875	R>K		No	ClinGen ExAC gnomAD
CA43339017 rs1021924003	877	K>R		No	ClinGen TOPMed
CA345900369 rs1321879268	880	A>T		No	ClinGen gnomAD
rs201259527 CA1539556	880	A>V		No	ClinGen 1000Genomes ExAC
CA1539555 rs553663521	882	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	883	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769214479 CA1539554	884	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1476923147 CA345900341	884	S>N		No	ClinGen TOPMed
rs1456122918 CA345900314	888	R>*		No	ClinGen TOPMed gnomAD
CA345900312 rs780409484	888	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1539553 rs780409484	888	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM1226839 rs780409484 CA1539552	888	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs369853393 CA1539551	889	E>Q		No	ClinGen ESP ExAC gnomAD
CA345900288 rs1304392946	892	M>V		No	ClinGen TOPMed
CA345900280 rs35604590	893	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1376686260 CA345900277	893	R>T		No	ClinGen TOPMed gnomAD
rs1274262639 CA345938777	894	Q>K		No	ClinGen gnomAD
rs1226610394 CA345938775	894	Q>R		No	ClinGen gnomAD
TCGA novel	897	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1261249457 CA345938702	898	A>V		No	ClinGen TOPMed
rs778005317 CA1539527	900	E>G		No	ClinGen ExAC gnomAD
rs1572260934 CA345938641	902	Y>S		No	ClinGen Ensembl
rs1446235697 CA345938602	904	D>E		No	ClinGen TOPMed
CA345938591 rs1199232527	905	L>R		No	ClinGen TOPMed
rs751571851 CA1539525	909	V>M		No	ClinGen ExAC gnomAD
rs1436109823 CA345938513	910	R>K		No	ClinGen gnomAD
TCGA novel	913	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345938456 rs1167612436	914	K>Q		No	ClinGen gnomAD
TCGA novel	914	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345938420 rs750249329	915	F>L		No	ClinGen ExAC gnomAD
CA345938358 rs1412025427	919	L>R		No	ClinGen TOPMed
CA345938320 rs1421413285	922	I>V		No	ClinGen gnomAD
CA43553895 rs149491090	926	R>I		No	ClinGen ESP
rs1168365464 CA345938241	926	R>S		No	ClinGen gnomAD
rs904708651 CA43553891	927	F>Y		No	ClinGen TOPMed
VAR_052442 CA43553879 rs35257753	928	K>Q		No	ClinGen UniProt Ensembl dbSNP
CA345938197 rs1412945481	929	T>I		No	ClinGen gnomAD
CA1539520 rs768705711	930	Y>*		No	ClinGen ExAC gnomAD
CA345938175 rs1235729531	930	Y>*		No	ClinGen gnomAD
CA1539521 rs765063246	931	Q>E		No	ClinGen ExAC gnomAD
rs1203309643 CA345938137	933	F>I		No	ClinGen gnomAD
CA345938135 rs1203309643	933	F>L		No	ClinGen gnomAD
CA43553851 rs150288069	934	R>K		No	ClinGen ESP
rs376248274 CA43551692	940	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA345937788 rs1450279410	942	K>T		No	ClinGen gnomAD
CA345937773 rs1181041627	944	Y>F		No	ClinGen gnomAD
rs767998823 CA345937755	946	D>E		No	ClinGen gnomAD
rs1260515113 CA345937758	946	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs138881226 CA1539504	946	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA345937761 rs138881226	946	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs61762669 CA43551685	947	N>S		No	ClinGen Ensembl
CA345937734 rs1558328414	950	S>P		No	ClinGen Ensembl
rs1221644068 CA345937722	951	Q>H		No	ClinGen TOPMed gnomAD
COSM3391146 rs1007197167 CA43551666	952	R>Q	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs778573533 CA1539501	953	A>S		No	ClinGen ExAC gnomAD
CA345937708 rs1435456988	954	Y>C		No	ClinGen gnomAD
rs1200502727 CA345937701	955	C>F		No	ClinGen TOPMed
rs757005662 CA1539500	962	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	963	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345937622 rs1327767743	965	E>A		No	ClinGen gnomAD
CA1539499 rs753510909	967	L>P		No	ClinGen ExAC TOPMed gnomAD
CA1539498 rs368991791	969	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	970	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157013696 CA345937592	970	S>A		No	ClinGen gnomAD
CA345937590 rs1278894105	970	S>L		No	ClinGen gnomAD
rs1240748709 CA345937557	972	Q>H		No	ClinGen TOPMed gnomAD
CA345937559 rs1194643869	972	Q>R		No	ClinGen gnomAD
CA43548333 rs577126102	973	P>T		No	ClinGen 1000Genomes
CA1539479 rs553714258	976	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1539478 rs752328356	977	N>S		No	ClinGen ExAC gnomAD
rs1188833354 CA345937515	979	A>P		No	ClinGen gnomAD
rs766968558 CA1539477	982	N>D		No	ClinGen ExAC gnomAD
CA1539476 rs533952051	982	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1539474 rs142161992	984	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1539475 rs142161992	984	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA345937427 rs1449974269	992	R>C		No	ClinGen gnomAD
CA345937397 rs1371180815	997	V>L		No	ClinGen TOPMed
TCGA novel	1001	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345937359 rs1293428155	1002	S>Y		No	ClinGen TOPMed
CA43548307 rs1027349907	1003	L>R		No	ClinGen Ensembl
CA43548304 rs1001623564	1006	I>V		No	ClinGen TOPMed gnomAD
CA345937330 rs761942611	1007	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1539469 rs761942611	1007	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1008	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776869384 CA1539468	1013	C>Y		No	ClinGen ExAC gnomAD
CA345937231 rs1388731083	1021	M>V		No	ClinGen gnomAD
CA345937199 rs1383898871	1023	M>T		No	ClinGen TOPMed
rs1480860632 CA345937192	1024	V>F		No	ClinGen gnomAD
rs184603634 CA1539446	1028	I>V		No	ClinGen 1000Genomes ExAC
CA1539445 rs762188500	1029	A>T		No	ClinGen ExAC TOPMed gnomAD
CA345937155 rs1231403130	1030	M>L		No	ClinGen TOPMed gnomAD
rs1336965775 CA345937151	1030	M>T		No	ClinGen TOPMed gnomAD
CA345937154 rs1231403130	1030	M>V		No	ClinGen TOPMed gnomAD
rs776836097 CA1539444	1031	D>E		No	ClinGen ExAC gnomAD
rs1328359007 CA345937092	1038	D>G		No	ClinGen TOPMed
CA1539442 rs368022854	1041	R>C		No	ClinGen ESP ExAC gnomAD
CA1539441 rs563299750	1041	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1539440 rs772074323	1043	R>K		No	ClinGen ExAC gnomAD
rs749256923 CA1539439	1044	Q>*		No	ClinGen ExAC gnomAD
VAR_029827 CA43547184 rs10221907	1046	I>M		No	ClinGen UniProt Ensembl dbSNP
rs1216735235 CA345937040	1046	I>V		No	ClinGen gnomAD
CA1539437 rs769600117	1048	L>F		No	ClinGen ExAC gnomAD
rs200717829 CA1539435	1053	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1539434 rs754721387	1054	S>N		No	ClinGen ExAC gnomAD
CA1539406 rs373310470	1054	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs757839257 CA1539405	1055	S>L		No	ClinGen ExAC TOPMed gnomAD
CA1539404 rs754232098	1057	P>S		No	ClinGen ExAC gnomAD
CA43546920 rs954732496	1059	S>G		No	ClinGen TOPMed
rs756423587 CA1539402	1059	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1205865428 CA345936930	1062	I>V		No	ClinGen gnomAD
rs767770240 CA1539400	1063	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1539399 rs759752308	1063	R>K		No	ClinGen ExAC gnomAD
COSM164478 CA43546912 rs867741404	1066	R>*	bone breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs751723798 CA1539398	1066	R>Q		No	ClinGen ExAC gnomAD
rs998155457 CA43546909 CA43546906	1067	M>I		No	ClinGen TOPMed
CA345936898 rs1297454203	1067	M>T		No	ClinGen gnomAD
rs961434799 CA43546903	1068	S>P		No	ClinGen Ensembl
TCGA novel	1069	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1539396 rs761811125	1073	G>E		No	ClinGen ExAC gnomAD
CA345936855 rs1319701306	1074	Q>E		No	ClinGen gnomAD
rs768516036 CA1539394	1076	T>A		No	ClinGen ExAC gnomAD
CA345936807 rs1285379022	1081	P>S		No	ClinGen TOPMed
rs1016092174 CA43546896	1082	V>L		No	ClinGen Ensembl
CA1539393 rs760593265	1083	T>S		No	ClinGen ExAC gnomAD
CA1539392 rs775393384	1084	Q>E		No	ClinGen ExAC gnomAD
CA1539389 rs373222214	1088	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139276977 CA43546890 CA1539388	1089	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1255625303 CA345936751	1089	D>G		No	ClinGen gnomAD
rs138478503 CA1539387	1091	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs138478503 CA1539386	1091	R>T		No	ClinGen 1000Genomes ExAC gnomAD

No associated diseases with Q96SB8

1 regional properties for Q96SB8

Type	Name	Position	InterPro Accession
domain	RecF/RecN/SMC, N-terminal	48 - 1065	IPR003395

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus speckle Chromosome Nucleus, PML body Chromosome, telomere	Colocalizes with SMC5 on the X-Y chromosome pair within the sex vesicle during late pachytene/diplotene (By similarity) Localizes to PML nuclear bodies in ALT cell lines (PubMed:17589526) Associates with chromatin (PubMed:25931565) Accumulates with RAD18 and the SLF1-SLF2 complex at replication-coupled DNA interstrand repair and DNA double-strand breaks (DSBs) sites on chromatin in a ubiquitin-dependent manner (PubMed:25931565) Localizes in interchromatin granule clusters (PubMed:11408570)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
chromosome, centromeric region	The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
interchromatin granule	A class of nuclear body measuring 20-25 nm in diameter and distributed throughout the interchromatin space, linked together by thin fibrils. They are believed to be storage centers for various snRNAs, snRNPs, serine/arginine-rich proteins and RNA polymerase II. A typical mammalian cell contains 25-50 clusters of interchromatin granules. Interchromatin granule clusters do not contain the heterogeneous nuclear RNA-binding proteins (hnRNPs).
mitotic spindle pole	Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
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.
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.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.
sex chromosome	A chromosome involved in sex determination.
site of double-strand break	A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.
Smc5-Smc6 complex	A conserved complex that contains a heterodimer of SMC proteins (Smc5p and Smc6p, or homologs thereof) and several other proteins, and is involved in DNA repair and maintaining cell cycle arrest following DNA damage. In S. cerevisiae, this is an octameric complex called Mms21-Smc5-Smc6 complex, with at least five of its subunits conserved in fission yeast and humans.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
damaged DNA binding	Binding to damaged DNA.
single-stranded DNA binding	Binding to single-stranded DNA.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

7 GO annotations of biological process

Name	Definition
cellular response to DNA damage stimulus	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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
cellular senescence	A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest.
double-strand break repair via homologous recombination	The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule.
positive regulation of chromosome segregation	Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets.
protein sumoylation	The process in which a SUMO protein (small ubiquitin-related modifier) is conjugated to a target protein via an isopeptide bond between the carboxy-terminus of SUMO with an epsilon-amino group of a lysine residue of the target protein.
regulation of telomere maintenance	Any process that modulates the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA.
telomere maintenance via recombination	Any recombinational process that contributes to the maintenance of proper telomeric length.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAKRKEENFS	SPKNAKRPRQ	EELEDFDKDG	DEDECKGTTL	TAAEVGIIES	IHLKNFMCHS
70	80	90	100	110	120
MLGPFKFGSN	VNFVVGNNGS	GKSAVLTALI	VGLGGRAVAT	NRGSSLKGFV	KDGQNSADIS
130	140	150	160	170	180
ITLRNRGDDA	FKASVYGNSI	LIQQHISIDG	SRSYKLKSAT	GSVVSTRKEE	LIAILDHFNI
190	200	210	220	230	240
QVDNPVSVLT	QEMSKQFLQS	KNEGDKYKFF	MKATQLEQMK	EDYSYIMETK	ERTKEQIHQG
250	260	270	280	290	300
EERLTELKRQ	CVEKEERFQS	IAGLSTMKTN	LESLKHEMAW	AVVNEIEKQL	NAIRDNIKIG
310	320	330	340	350	360
EDRAARLDRK	MEEQQVRLNE	AEQKYKDIQD	KLEKISEETN	ARAPECMALK	ADVVAKKRAY
370	380	390	400	410	420
NEAEVLYNRS	LNEYKALKKD	DEQLCKRIEE	LKKSTDQSLE	PERLERQKKI	SWLKERVKAF
430	440	450	460	470	480
QNQENSVNQE	IEQFQQAIEK	DKEEHGKIKR	EELDVKHALS	YNQRQLKELK	DSKTDRLKRF
490	500	510	520	530	540
GPNVPALLEA	IDDAYRQGHF	TYKPVGPLGA	CIHLRDPELA	LAIESCLKGL	LQAYCCHNHA
550	560	570	580	590	600
DERVLQALMK	RFYLPGTSRP	PIIVSEFRNE	IYDVRHRAAY	HPDFPTVLTA	LEIDNAVVAN
610	620	630	640	650	660
SLIDMRGIET	VLLIKNNSVA	RAVMQSQKPP	KNCREAFTAD	GDQVFAGRYY	SSENTRPKFL
670	680	690	700	710	720
SRDVDSEISD	LENEVENKTA	QILNLQQHLS	ALEKDIKHNE	ELLKRCQLHY	KELKMKIRKN
730	740	750	760	770	780
ISEIRELENI	EEHQSVDIAT	LEDEAQENKS	KMKMVEEHME	QQKENMEHLK	SLKIEAENKY
790	800	810	820	830	840
DAIKFKINQL	SELADPLKDE	LNLADSEVDN	QKRGKRHYEE	KQKEHLDTLN	KKKRELDMKE
850	860	870	880	890	900
KELEEKMSQA	RQICPERIEV	EKSASILDKE	INRLRQKIQA	EHASHGDREE	IMRQYQEARE
910	920	930	940	950	960
TYLDLDSKVR	TLKKFIKLLG	EIMEHRFKTY	QQFRRCLTLR	CKLYFDNLLS	QRAYCGKMNF
970	980	990	1000	1010	1020
DHKNETLSIS	VQPGEGNKAA	FNDMRALSGG	ERSFSTVCFI	LSLWSIAESP	FRCLDEFDVY
1030	1040	1050	1060	1070	1080
MDMVNRRIAM	DLILKMADSQ	RFRQFILLTP	QSMSSLPSSK	LIRILRMSDP	ERGQTTLPFR
1090
PVTQEEDDDQ	R