AiPD: Autoinhibited Protein Database

Q8IY18

Gene name	SMC5 (KIAA0594, SMC5L1)
Protein name	Structural maintenance of chromosomes protein 5
Names	SMC protein 5, SMC-5, hSMC5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23137
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-77 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-77 (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 Q8IY18

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IY18-F1	Predicted				AlphaFoldDB

783 variants for Q8IY18

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_087971	372	R>del	ATELS2; loss-of-function variant; unable to rescue microcephaly and aberrant craniofacial patterning in zebrafish lacking SMC5; does not relocalize efficiently to sites of laser irradiation-induced DNA damage; loss of interaction with SLF2 and NSMCE2; severely decreased interaction with SMC6 [UniProt]	Yes	UniProt
VAR_087972	425	R>del	ATELS2; loss-of-function variant; unable to rescue microcephaly and aberrant craniofacial patterning in zebrafish lacking SMC5; loss of interaction with SLF2, SMC6 and NSMCE2 [UniProt]	Yes	UniProt
VAR_087973	990	H>D	ATELS2; loss-of-function variant; unable to rescue microcephaly and aberrant craniofacial patterning in zebrafish lacking SMC5; does not relocalize efficiently to sites of laser irradiation-induced DNA damage; no effect on interaction with SLF2, SMC6 and NSMCE2 [UniProt]	Yes	UniProt
CA5076560 rs772866128	2	A>E		No	ClinGen ExAC gnomAD
rs748755647 CA373535503	3	T>N		No	ClinGen ExAC TOPMed gnomAD
CA5076561 rs748755647	3	T>S		No	ClinGen ExAC TOPMed gnomAD
CA5076564 rs573569022	4	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5076563 rs573569022	4	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377294504 CA5076562	4	P>S		No	ClinGen ESP ExAC gnomAD
rs1292150476 CA373535538	5	S>N		No	ClinGen gnomAD
rs1477251748 CA5076566	5	S>R		No	ClinGen TOPMed
CA5076569 rs760489013	8	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	9	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373535629 rs1475684118	10	T>I		No	ClinGen gnomAD
rs1246126705 CA373535616	10	T>P		No	ClinGen gnomAD
CA193407845 rs777609602	11	P>L		No	ClinGen Ensembl
rs1260087317 CA373535632	11	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	13	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764226528 CA5076570	14	Q>H		No	ClinGen ExAC gnomAD
rs956687422 CA193407859	15	P>T		No	ClinGen TOPMed
CA5076572 rs369707174	16	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076571 rs369707174	16	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs765404627 CA5076573	19	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1342654623 CA373535709	20	L>F		No	ClinGen TOPMed
rs1178635323 CA373535710	20	L>R		No	ClinGen gnomAD
rs1403158222 CA373535715	21	P>S		No	ClinGen gnomAD
rs867991356 CA193407876	22	R>K		No	ClinGen TOPMed
rs1228986640 CA373535731	23	D>E		No	ClinGen TOPMed
CA373535736 rs1322299354	24	P>H		No	ClinGen TOPMed gnomAD
rs750467996 CA5076574	25	S>A		No	ClinGen ExAC TOPMed gnomAD
rs139961466 CA193407919	25	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5076575 rs139961466	25	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA373535746 rs1335785876	26	S>W		No	ClinGen TOPMed
rs555737117 CA5076578	27	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs781406957 CA373535753	27	E>D		No	ClinGen ExAC gnomAD
CA5076577 rs113096629	27	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA5076580 rs143533000	28	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA373535760 rs573926581	29	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373535763 rs1218657200	29	P>Q		No	ClinGen TOPMed gnomAD
CA373535762 rs1218657200	29	P>R		No	ClinGen TOPMed gnomAD
CA5076582 rs573926581	29	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	33	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	34	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373535821 rs1187986237	35	S>L		No	ClinGen TOPMed gnomAD
CA373535813 rs1187986237	35	S>W		No	ClinGen TOPMed gnomAD
CA5076586 rs367721215	36	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076588 rs776264120	37	P>L		No	ClinGen ExAC gnomAD
CA5076587 rs200212160	37	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5076590 CA5076591 rs765334362	38	Q>H		No	ClinGen ExAC gnomAD
rs762133367 CA5076589	38	Q>P		No	ClinGen ExAC gnomAD
rs758418368 CA5076592	40	P>L		No	ClinGen ExAC gnomAD
rs758418368 CA373536141	40	P>Q		No	ClinGen ExAC gnomAD
TCGA novel	40	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780256240 CA373536147	41	L>M		No	ClinGen gnomAD
CA373536149 rs780256240	41	L>V		No	ClinGen gnomAD
rs752130710 CA5076595	42	L>W		No	ClinGen ExAC TOPMed
rs755428493 CA5076596	44	S>L		No	ClinGen ExAC gnomAD
rs781657426 CA5076597	45	S>F		No	ClinGen ExAC gnomAD
CA193408031 rs932986155	45	S>P		No	ClinGen Ensembl
rs756955104 CA5076599	46	G>E		No	ClinGen ExAC TOPMed gnomAD
rs748432536 CA5076598	46	G>R		No	ClinGen ExAC gnomAD
rs745376589 CA5076601	47	P>H		No	ClinGen ExAC TOPMed gnomAD
rs779694157 CA373536304 CA5076603	48	F>L		No	ClinGen ExAC TOPMed gnomAD
CA373536331 rs1587604760	49	V>G		No	ClinGen Ensembl
rs1156288563 CA373536319	49	V>L		No	ClinGen gnomAD
rs1051471288 CA373536430	52	S>C		No	ClinGen TOPMed gnomAD
rs1051471288 CA193408088	52	S>F		No	ClinGen TOPMed gnomAD
rs776518504 CA5076606	52	S>T		No	ClinGen ExAC
CA5076607 rs372744651	53	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321710223 CA373536484	54	V>A		No	ClinGen TOPMed
CA373536472 rs1340241870	54	V>F		No	ClinGen TOPMed
CA373536528 rs1459166494	55	R>L		No	ClinGen TOPMed
rs770019765 CA5076608	57	S>L		No	ClinGen ExAC gnomAD
rs1308587747 CA373536605	58	M>I		No	ClinGen gnomAD
CA5076609 rs773360678	58	M>V		No	ClinGen ExAC gnomAD
rs1257573182 CA373536674	62	L>Q		No	ClinGen gnomAD
rs769648646 CA5076625	64	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA5076626 rs145189328	66	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1194910276 CA373538017	67	C>Y		No	ClinGen gnomAD
CA373538039 rs1426164459	69	V>I		No	ClinGen gnomAD
CA5076627 rs199831056	71	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5076628 rs771111743	71	P>R		No	ClinGen ExAC gnomAD
rs199831056 CA373538063	71	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373538090 rs1362322203	73	P>L		No	ClinGen gnomAD
CA5076630 rs759486297	73	P>T		No	ClinGen ExAC TOPMed gnomAD
rs753210977 CA5076632	74	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs575090507 CA5076631	74	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA5076633 rs142274911	77	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs764599446 CA5076634	78	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5076635 rs554912542	79	V>I		No	ClinGen ExAC gnomAD
rs1321944767 CA373538224	83	G>A		No	ClinGen gnomAD
rs758152854 COSM285210 CA5076636	87	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA373538319 rs1488452114	90	V>A		No	ClinGen gnomAD
CA193411895 rs955663066	91	C>Y		No	ClinGen TOPMed
rs563696904 CA5076638	95	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1189711630 CA373538410	96	G>A		No	ClinGen TOPMed
CA5076640 rs780754186	99	G>R		No	ClinGen ExAC gnomAD
rs1425746415 CA373538526	106	R>*		No	ClinGen TOPMed gnomAD
rs756024882 CA5076642	107	A>T		No	ClinGen ExAC gnomAD
rs756077543 CA5076663	110	V>A		No	ClinGen ExAC TOPMed gnomAD
CA373540039 rs1314252035	110	V>I		No	ClinGen gnomAD
rs777639863 CA5076664	112	F>I		No	ClinGen ExAC gnomAD
CA373540114 rs1458362269	114	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5076665 rs749097179	116	R>T		No	ClinGen ExAC gnomAD
CA5076666 rs757108083	118	C>R		No	ClinGen ExAC gnomAD
CA193414556 rs757108083	118	C>S		No	ClinGen ExAC gnomAD
CA5076668 rs200964468	119	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5076667 rs368982485	119	S>P		No	ClinGen ESP ExAC gnomAD
rs1416013981 CA373540255	120	R>G		No	ClinGen gnomAD
CA373540317 rs1188620387	122	M>T		No	ClinGen Ensembl
CA5076671 rs747033233	125	I>V		No	ClinGen ExAC gnomAD
rs1397659303 CA373542464	128	F>S		No	ClinGen gnomAD
CA193422084 rs997951844	129	R>K		No	ClinGen TOPMed
rs1438375878 CA373542474	130	A>T		No	ClinGen TOPMed
rs763588735 CA5076681	133	N>S		No	ClinGen ExAC TOPMed gnomAD
CA373542501 rs1564025743	134	L>I		No	ClinGen Ensembl
CA5076682 rs753829381	135	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5076683 rs116486194	136	I>V		No	ClinGen 1000Genomes ExAC TOPMed
CA373542520 rs1341448475	137	T>I		No	ClinGen TOPMed gnomAD
CA373542519 rs1341448475	137	T>N		No	ClinGen TOPMed gnomAD
CA5076684 rs778612425	138	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5076685 rs778612425	138	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5076686 rs758566983	139	E>Q		No	ClinGen ExAC gnomAD
CA5076687 rs377344787	140	I>T		No	ClinGen ESP ExAC gnomAD
CA373542547 rs1210548043	142	V>M		No	ClinGen gnomAD
rs1453278595 CA373542555	143	A>T		No	ClinGen gnomAD
CA5076690 rs768925921	144	K>R		No	ClinGen ExAC gnomAD
rs1016767897 CA193422216	145	N>D		No	ClinGen TOPMed
rs781411396 CA5076691	145	N>S		No	ClinGen ExAC gnomAD
rs1016767897 CA193422220	145	N>Y		No	ClinGen TOPMed
rs748717368 CA5076692	150	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1415286229 CA373542688	152	N>K		No	ClinGen gnomAD
CA373542683 rs1163360700	152	N>S		No	ClinGen gnomAD
rs770307620 CA5076693	155	S>P		No	ClinGen ExAC
CA373542733 rs1390910028	155	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1263515446 CA373542740	156	T>A		No	ClinGen Ensembl
CA5076694 rs773480446	158	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	158	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5076695 rs763328847	160	I>T		No	ClinGen ExAC gnomAD
CA373542788 rs1303011038	160	I>V		No	ClinGen gnomAD
CA373542829 rs1296701673	163	E>D		No	ClinGen gnomAD
CA373542815 rs1402314436	163	E>K		No	ClinGen gnomAD
rs73647452 CA5076696	166	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373542867 rs1468488199	166	A>V		No	ClinGen TOPMed
rs1245732791 CA373542871	167	A>D		No	ClinGen TOPMed gnomAD
rs1245732791 CA373542872	167	A>G		No	ClinGen TOPMed gnomAD
CA5076697 rs775058406	170	I>V		No	ClinGen ExAC
rs760306031 CA5076698	173	G>R		No	ClinGen ExAC gnomAD
rs370425906 CA5076700	175	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076701 rs554882406	177	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA373542962 rs1488559229	177	Q>H		No	ClinGen gnomAD
rs554703284 CA5076719	184	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5076720 rs765087308	187	F>S		No	ClinGen ExAC gnomAD
CA5076721 rs147082288	188	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	188	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373543596 rs1466937568	191	S>R		No	ClinGen gnomAD
rs1587631155 CA373543622	194	E>*		No	ClinGen Ensembl
rs1587631164 CA373543630	194	E>D		No	ClinGen Ensembl
CA5076724 rs751372821	196	L>V		No	ClinGen ExAC gnomAD
rs767799540 CA5076726	197	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5076727 rs752734540	200	E>K		No	ClinGen ExAC gnomAD
rs756153062 CA5076728	201	K>R		No	ClinGen ExAC gnomAD
rs1304862861 CA373543727	203	I>T		No	ClinGen gnomAD
rs777712042 CA5076729	203	I>V		No	ClinGen ExAC TOPMed gnomAD
CA373543735 rs1564026579	204	G>C		No	ClinGen Ensembl
CA373543737 rs1176931598	204	G>D		No	ClinGen TOPMed
rs1375876221 CA373543757	206	P>S		No	ClinGen TOPMed
rs543721467 CA5076730	207	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs565313750 CA5076731	208	M>R		No	ClinGen 1000Genomes ExAC gnomAD
CA373543787 rs1320994833	209	H>Y		No	ClinGen gnomAD
rs532380112 CA5076733	210	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA193423237 rs532380112	210	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5076735 rs768306620	211	Y>*		No	ClinGen ExAC gnomAD
CA5076734 rs746177713	211	Y>C		No	ClinGen ExAC gnomAD
CA5076736 rs776196254	216	K>E		No	ClinGen ExAC gnomAD
rs1176197599 CA373543873	216	K>R		No	ClinGen TOPMed
rs1457063014 CA373543892	217	N>S		No	ClinGen TOPMed
rs747749280 CA5076737	218	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1487777760 CA373543920	220	E>K		No	ClinGen gnomAD
rs377310638 CA193423288	224	Q>H		No	ClinGen Ensembl
CA5076739 rs772577034	225	L>F		No	ClinGen ExAC TOPMed gnomAD
CA373543995 rs1171582964	225	L>P		No	ClinGen gnomAD
rs141003657 CA5076742	226	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA373544454 rs1394429830	228	S>L		No	ClinGen Ensembl
CA373544460 rs1204816423	229	C>R		No	ClinGen TOPMed
rs1186080125 CA373544491	230	K>N		No	ClinGen gnomAD
rs1357288752 CA373544526	232	K>N		No	ClinGen TOPMed
rs750984226 CA5076768	232	K>T		No	ClinGen ExAC gnomAD
rs142628186 CA193425196	233	T>S		No	ClinGen ESP TOPMed gnomAD
CA5076772 rs755814439	238	K>E		No	ClinGen ExAC gnomAD
rs1015277083 CA193425231	240	V>A		No	ClinGen TOPMed gnomAD
CA5076773 rs777238105	243	N>S		No	ClinGen ExAC gnomAD
CA5076774 rs371519470	244	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076775 rs770635107	245	R>I		No	ClinGen ExAC gnomAD
CA5076777 rs367630327	246	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs150260127 CA5076776	246	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376696894 CA5076778	247	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs138944931 CA193425252	247	K>N		No	ClinGen ESP
rs1167557674 CA373544811	250	V>A		No	ClinGen TOPMed
rs745416787 CA193425254	253	F>L		No	ClinGen Ensembl
CA193425267 rs921161773	254	Y>C		No	ClinGen TOPMed gnomAD
rs768926946 CA5076782 COSM195621	256	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs761109273 CA5076781	256	R>W		No	ClinGen ExAC gnomAD
rs1052768752 COSM1659932 CA193425299	258	R>*	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1181848923 CA373544956	258	R>Q		No	ClinGen gnomAD
CA5076783 rs369776321	262	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	266	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769381374 CA193426569	275	Y>C		No	ClinGen Ensembl
rs773303099 CA5076805	278	V>I		No	ClinGen ExAC gnomAD
rs997124254 CA193426579	279	R>H		No	ClinGen TOPMed
CA373545670 rs1442063640	280	Q>R		No	ClinGen gnomAD
TCGA novel	281	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	283	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149237018 CA5076807	288	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076806 rs762963288	288	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1109768 CA5076808 rs774791360	289	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs369127149 CA5076809	289	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5076810 rs767823137	290	D>G		No	ClinGen ExAC gnomAD
rs1318835875 CA373545733	290	D>N		No	ClinGen gnomAD
rs753069227 CA5076811	291	R>*		No	ClinGen ExAC TOPMed gnomAD
rs756988546 CA5076812	291	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764920716 CA5076813	292	V>L		No	ClinGen ExAC TOPMed gnomAD
rs372483568 CA373545775	296	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	296	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372483568 CA5076814	296	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs767679887 CA193426627	296	V>I		No	ClinGen gnomAD
CA373545772 rs767679887	296	V>L		No	ClinGen gnomAD
CA5076818 rs779601986	300	K>T		No	ClinGen ExAC TOPMed gnomAD
rs746967130 CA5076819	301	E>D		No	ClinGen ExAC gnomAD
rs1477930515 CA373545804	301	E>K		No	ClinGen gnomAD
rs1481215919 CA373545811	302	G>R		No	ClinGen TOPMed
CA5076820 rs1180116 VAR_029824	306	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1166185121 CA373545844	307	T>A		No	ClinGen gnomAD
CA5076821 rs780998162	307	T>R		No	ClinGen ExAC gnomAD
rs142489701 CA373545850	308	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_029825 CA5076822 rs1180117	308	C>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs142489701 CA5076823	308	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373545855 rs1341391383	309	R>*	Variant assessed as Somatic; 0.0001397 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs145999559 COSM1462795 CA5076824	309	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5076825 rs749526425	311	E>G		No	ClinGen ExAC gnomAD
CA5076826 rs770977626	312	E>V		No	ClinGen ExAC gnomAD
rs1587637475 CA373545886	313	M>I		No	ClinGen Ensembl
rs774470627 CA5076827	313	M>R		No	ClinGen ExAC TOPMed gnomAD
rs774470627 CA373545883	313	M>T		No	ClinGen ExAC TOPMed gnomAD
rs75873820 CA193426749	315	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5076829 rs142655034	317	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5076830 rs115131883	317	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1173920259 CA373545944	321	E>D		No	ClinGen TOPMed
rs1447223529 CA373545950	322	A>V		No	ClinGen gnomAD
rs764544652 CA5076832	323	R>Q		No	ClinGen ExAC gnomAD
CA5076833 rs141264576	326	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076874 rs776884389	330	D>A		No	ClinGen ExAC gnomAD
CA373546468 rs776884389	330	D>G		No	ClinGen ExAC gnomAD
CA373546466 rs776884389	330	D>V		No	ClinGen ExAC gnomAD
CA5076875 rs762182423	331	I>T		No	ClinGen ExAC gnomAD
rs200623827 CA373546525	336	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5076876 rs200623827	336	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1469392472 CA373546534	337	K>I		No	ClinGen gnomAD
CA373546536 rs1305150033	337	K>N		No	ClinGen TOPMed
rs1406592669 CA373546537	338	C>S		No	ClinGen TOPMed
rs1477177946 CA373546546	339	K>E		No	ClinGen gnomAD
CA373546568 rs1172195598	341	K>N		No	ClinGen gnomAD
CA5076878 rs759179865	342	Q>E		No	ClinGen ExAC gnomAD
rs752175461 CA5076880	345	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5076879 rs150785894	345	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1047619055 CA193429380	350	K>T		No	ClinGen TOPMed
CA5076881 rs760641227	351	H>N		No	ClinGen ExAC gnomAD
CA373547919 rs1587658468	354	E>*		No	ClinGen Ensembl
rs1256802348 CA373547971	357	Q>H		No	ClinGen gnomAD
CA373547967 rs1449386536	357	Q>R		No	ClinGen TOPMed
CA193438839 rs549857669	360	I>M		No	ClinGen Ensembl
rs368177263 CA5076898	360	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771675765 CA5076897	360	I>V		No	ClinGen ExAC gnomAD
rs1196043137 CA373548011	361	V>I		No	ClinGen TOPMed
CA5076900 rs763505099	363	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs776684676 CA5076901	363	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA373548032 rs763505099	363	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1187276623 CA373548050	364	N>S		No	ClinGen gnomAD
CA373548091 rs1426879889	367	L>F		No	ClinGen gnomAD
CA5076902 rs761629867	367	L>R		No	ClinGen ExAC gnomAD
rs776132409 CA193438872	368	D>G		No	ClinGen gnomAD
CA373548113 rs1425167449	369	R>*		No	ClinGen TOPMed gnomAD
CA373548111 rs1425167449	369	R>G		No	ClinGen TOPMed gnomAD
rs996068745 CA193438886	371	R>K		No	ClinGen TOPMed
rs1363411506 CA373548152	372	R>K		No	ClinGen gnomAD
CA373548161 rs1457106997	373	I>V		No	ClinGen gnomAD
rs1028862305 CA193438901	374	G>A		No	ClinGen TOPMed gnomAD
rs1028862305 CA373548181	374	G>V		No	ClinGen TOPMed gnomAD
CA373548205 rs1393387589	376	T>N		No	ClinGen TOPMed
CA373548215 rs1380078737	377	R>C		No	ClinGen TOPMed gnomAD
CA5076903 rs765120179	377	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765120179 CA373548220	377	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1248726754 CA373548251	379	M>I		No	ClinGen gnomAD
rs750203173 CA5076904	379	M>R		No	ClinGen ExAC TOPMed gnomAD
rs750203173 CA373548245	379	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1395390317 CA373548260	380	I>T		No	ClinGen TOPMed
CA5076905 rs758714474	381	E>A		No	ClinGen ExAC gnomAD
rs1290066337 COSM3848703 CA373548265	381	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs149767452 CA5076906	387	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373548363 rs1376608948	388	K>E		No	ClinGen TOPMed
rs1376608948 CA373548367	388	K>Q		No	ClinGen TOPMed
CA5076909 rs781119761	390	T>A		No	ClinGen ExAC gnomAD
rs748742214 CA5076910	390	T>M		No	ClinGen ExAC gnomAD
CA193438977 rs923628836	391	E>K		No	ClinGen Ensembl
CA373548419 rs1203996274	392	N>D		No	ClinGen TOPMed
CA373548436 rs1486205058	393	C>R		No	ClinGen TOPMed
CA5076914 rs749608121	393	C>W		No	ClinGen ExAC TOPMed gnomAD
CA5076912 rs746214689	393	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs775187225 CA5076915	394	E>K		No	ClinGen ExAC gnomAD
rs746647548 CA5076916	395	N>D		No	ClinGen ExAC TOPMed gnomAD
CA373548994 rs1280612437	395	N>I		No	ClinGen TOPMed
rs746647548 CA373548461	395	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA5076917 rs768258324	400	I>F		No	ClinGen ExAC gnomAD
CA373549090 rs775971596	400	I>N		No	ClinGen ExAC gnomAD
CA5076918 rs775971596	400	I>T		No	ClinGen ExAC gnomAD
CA373549078 rs768258324	400	I>V		No	ClinGen ExAC gnomAD
rs1241332440 CA373549113	401	D>V		No	ClinGen TOPMed
CA5076919 rs372127112	402	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076920 rs765033936	403	I>V		No	ClinGen ExAC gnomAD
CA373549146 rs1224737786	404	T>A		No	ClinGen gnomAD
rs116117325 CA5076921	405	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373549156 rs116117325	405	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373549173 rs762770470	406	D>N		No	ClinGen ExAC gnomAD
rs762770470 CA5076922	406	D>Y		No	ClinGen ExAC gnomAD
rs373553140 CA5076924	409	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5076923 rs149041769	409	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373549243 rs1564040169	411	Q>P		No	ClinGen Ensembl
TCGA novel	411	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1587659088 CA373549298	415	A>T		No	ClinGen Ensembl
CA373549346 rs367752231	417	C>*		No	ClinGen ESP TOPMed
CA373549341 rs535923143	417	C>F		No	ClinGen ExAC gnomAD
rs767679494 CA373549332	417	C>R		No	ClinGen ExAC TOPMed gnomAD
rs767679494 CA5076926	417	C>S		No	ClinGen ExAC TOPMed gnomAD
CA5076927 rs535923143	417	C>Y		No	ClinGen ExAC gnomAD
rs778198722 CA5076929	420	E>K		No	ClinGen ExAC gnomAD
rs754335348 CA5076930	422	I>T		No	ClinGen ExAC gnomAD
CA5076931 rs757674121	424	K>N		No	ClinGen ExAC gnomAD
CA373549486 rs1429544702	425	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779223347 CA5076932	425	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375658827 CA5076933	428	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076934 rs768152761	431	L>I		No	ClinGen ExAC TOPMed gnomAD
rs772545049 CA193439162	431	L>R		No	ClinGen Ensembl
CA5076935 rs768152761	431	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	433	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5076936 rs747551777	435	K>N		No	ClinGen ExAC gnomAD
rs1300272216 CA373549668	435	K>R		No	ClinGen TOPMed gnomAD
rs1409653009 CA373549897	438	V>L		No	ClinGen gnomAD
rs754670445 CA5076955	439	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5076958 rs377286227	440	D>G		No	ClinGen ESP ExAC gnomAD
rs747834065 CA5076957	440	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5076959 rs777402526	443	V>I		No	ClinGen ExAC gnomAD
CA5076960 rs147695278	444	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076961 rs369578475	444	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1181762348 CA373550028	445	F>C		No	ClinGen TOPMed
rs142488686 CA5076962	447	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373550104 rs1258838947	449	M>I		No	ClinGen TOPMed
CA193441065 rs992409333	449	M>T		No	ClinGen Ensembl
CA5076963 rs759197955	450	N>S		No	ClinGen ExAC gnomAD
rs1490740448 CA373550190	454	D>G		No	ClinGen gnomAD
CA5076965 rs775628286	454	D>H		No	ClinGen ExAC gnomAD
rs143352428 CA5076967	455	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076966 rs143352428	455	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs372120847 CA5076971	461	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5076972 rs750803383	461	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750803383 CA5076973	461	R>P		No	ClinGen ExAC TOPMed gnomAD
rs372120847 CA193441131	461	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA193441147 rs751992422	462	D>G		No	ClinGen gnomAD
CA373550351 rs1423113264	465	D>N		No	ClinGen gnomAD
TCGA novel	466	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373550369 rs1432745352	466	A>T		No	ClinGen Ensembl
rs752342125 CA5076975	466	A>V		No	ClinGen ExAC gnomAD
CA373550423 rs1404648445	469	W>C		No	ClinGen TOPMed
rs200888007 CA193441218	469	W>R		No	ClinGen TOPMed
rs1587662492 CA373550709	470	L>P		No	ClinGen Ensembl
rs748761978 CA5076978	472	N>S		No	ClinGen ExAC gnomAD
CA373550747 rs1320840652	473	N>S		No	ClinGen TOPMed
rs757278111 CA5076980	474	R>G		No	ClinGen ExAC TOPMed gnomAD
rs778653098 CA5076981	475	D>G		No	ClinGen ExAC gnomAD
rs745801031 CA5076982	477	F>S		No	ClinGen ExAC gnomAD
rs771807400 CA5076983	478	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	480	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288752425 CA373550840	480	R>T		No	ClinGen gnomAD
CA373550848 rs1424439222	481	V>I		No	ClinGen gnomAD
rs1217350614 CA373550867	482	C>S		No	ClinGen gnomAD
rs1184810384 CA373550911	485	I>M		No	ClinGen gnomAD
rs1449407461 CA373550902	485	I>V		No	ClinGen TOPMed gnomAD
rs775321158 CA5076984	486	M>I		No	ClinGen ExAC gnomAD
CA5076985 rs151317759	488	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA373552007 rs1408250174	490	N>H		No	ClinGen gnomAD
rs952659465 CA193445788	490	N>K		No	ClinGen Ensembl
CA193445757 rs1026800373	490	N>S		No	ClinGen gnomAD
CA373552015 rs1026800373	490	N>T		No	ClinGen gnomAD
rs1333276596 CA373552037	491	M>T		No	ClinGen gnomAD
CA5077000 rs778459728	493	D>E		No	ClinGen ExAC gnomAD
rs1472263065 CA373552078	493	D>V		No	ClinGen TOPMed
rs1444100992 CA373552124	496	N>H		No	ClinGen gnomAD
TCGA novel	496	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745828965 CA5077001	496	N>T		No	ClinGen ExAC TOPMed gnomAD
rs115446160 CA5077002	500	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779732073 CA5077003	502	N>T		No	ClinGen ExAC gnomAD
CA373552254 rs1254818835	503	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs746747695 CA5077004	504	I>T		No	ClinGen ExAC gnomAD
CA5077005 rs768868913	508	D>N		No	ClinGen ExAC gnomAD
CA5077006 rs776904659	510	R>K		No	ClinGen ExAC TOPMed gnomAD
rs773311181 CA5077009	517	Q>K		No	ClinGen ExAC gnomAD
CA5077011 rs766863833	520	M>T		No	ClinGen ExAC gnomAD
CA5077010 rs763402962	520	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1564046790 CA373552578	523	F>S		No	ClinGen Ensembl
CA373552598 rs1287926093	525	K>E		No	ClinGen gnomAD
TCGA novel	525	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465595385 CA373552602	525	K>R		No	ClinGen gnomAD
TCGA novel	526	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs927948213 CA193406823	527	V>I		No	ClinGen TOPMed
CA373534399 COSM1109772 rs1369660346	528	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs780943140 CA5077026	528	R>H		No	ClinGen ExAC TOPMed gnomAD
CA373534406 rs1490167069	529	D>N		No	ClinGen TOPMed
CA5077027 rs748409663	530	N>H		No	ClinGen ExAC gnomAD
CA5077028 rs369039572	530	N>S		No	ClinGen ESP ExAC gnomAD
rs1385782469 CA373534434	531	K>E		No	ClinGen gnomAD
TCGA novel	532	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5077029 rs777738506	534	R>K		No	ClinGen ExAC gnomAD
CA373534553 rs1328712508	538	V>G		No	ClinGen gnomAD
rs749335405 CA373534555	539	I>L		No	ClinGen ExAC gnomAD
CA5077030 rs749335405	539	I>V		No	ClinGen ExAC gnomAD
rs775069851 CA5077032	542	K>E		No	ClinGen ExAC gnomAD
CA5077033 rs544056515	542	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA373534607 rs544056515	542	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA373534619 rs1263948530	543	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	544	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373534651 rs1271896934	545	Y>F		No	ClinGen TOPMed
rs756202176 CA5077035	548	K>R		No	ClinGen ExAC TOPMed gnomAD
rs764882867 CA5077038	549	A>G		No	ClinGen ExAC TOPMed gnomAD
rs137909778 CA373534706	549	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5077036 rs137909778	549	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs764882867 CA5077037	549	A>V		No	ClinGen ExAC TOPMed gnomAD
CA373534736 rs1310388556	551	S>P		No	ClinGen TOPMed
rs1408123722 CA373534746 COSM1266261	552	R>G	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA5077039 rs762589335	552	R>K		No	ClinGen ExAC gnomAD
CA373534766 rs1418254117	553	S>Y		No	ClinGen gnomAD
TCGA novel	554	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373534816 rs1445061448	555	N>S		No	ClinGen gnomAD
CA373534867 rs1353990633	557	L>P		No	ClinGen TOPMed
CA5077040 rs765793773	557	L>V		No	ClinGen ExAC gnomAD
CA5077042 rs565461607	558	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5077059 rs765915222	559	Q>K		No	ClinGen ExAC gnomAD
CA373535079 rs1205432693	561	G>E		No	ClinGen TOPMed
CA5077061 rs759492902	561	G>R		No	ClinGen ExAC TOPMed gnomAD
CA373535094 rs1352765114	562	F>L		No	ClinGen TOPMed
TCGA novel	563	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482827727 CA373535151	565	Y>*		No	ClinGen gnomAD
TCGA novel	565	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373535140 rs1587683949	565	Y>N		No	ClinGen Ensembl
rs752442353 CA5077063	567	R>K		No	ClinGen ExAC gnomAD
CA373535181 rs1301643844	568	E>Q		No	ClinGen gnomAD
TCGA novel	570	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373535214 rs1253546739	570	F>L		No	ClinGen TOPMed gnomAD
rs756007157 CA5077064	570	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1180829422 CA373535241	572	A>T		No	ClinGen gnomAD
rs1429305720 CA373535254	573	P>S		No	ClinGen gnomAD
CA5077065 rs373366303	578	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5077066 rs754143386	579	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA373535346 rs754143386	579	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA5077068 rs779152849	583	Q>R		No	ClinGen ExAC gnomAD
CA5077069 rs745883002	584	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA373535428 rs1348897842	585	H>R		No	ClinGen gnomAD
CA373535477 rs1409369862	588	E>V		No	ClinGen gnomAD
CA5077071 rs780771664	591	V>I		No	ClinGen ExAC gnomAD
CA373535552 rs1383523400 COSM1314893	594	E>K	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1217517897 CA373535570	595	K>T		No	ClinGen gnomAD
rs201289280 CA5077072	597	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5077073 rs769112727	600	I>N		No	ClinGen ExAC gnomAD
CA5077076 rs770523017	602	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749001730 CA5077075	602	R>W		No	ClinGen ExAC TOPMed gnomAD
CA373535827 rs1486488274	604	I>M		No	ClinGen gnomAD
CA373535822 rs1245556901	604	I>V		No	ClinGen gnomAD
rs778605838 CA5077095	606	E>V		No	ClinGen ExAC gnomAD
rs745509783 CA5077096	608	R>Q		No	ClinGen ExAC gnomAD
rs1164552402 CA373535872	611	Q>R		No	ClinGen gnomAD
TCGA novel	612	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774836266 CA5077098	612	I>V		No	ClinGen ExAC gnomAD
CA5077099 rs548676384	615	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5077101 rs776487311	623	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1564056386 CA373536881	627	S>A		No	ClinGen Ensembl
CA5077103 rs761764905	628	N>K		No	ClinGen ExAC gnomAD
rs765108692 CA5077104	629	K>E		No	ClinGen ExAC gnomAD
CA373536950 rs1227425013	631	I>T		No	ClinGen gnomAD
CA5077105 rs750722320	631	I>V		No	ClinGen ExAC gnomAD
rs1426402865 CA373536987	633	S>G		No	ClinGen TOPMed
rs1032000219 CA193408482	633	S>T		No	ClinGen Ensembl
CA5077106 rs763235374	635	T>I		No	ClinGen ExAC gnomAD
TCGA novel	636	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5077108 rs751544317	637	L>I		No	ClinGen ExAC gnomAD
TCGA novel	640	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781486693 CA5077110	641	Q>R		No	ClinGen ExAC gnomAD
CA373537120 rs1210030041	642	F>C		No	ClinGen gnomAD
CA5077112 rs756531864	647	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5077113 rs778092460	650	E>G		No	ClinGen ExAC TOPMed gnomAD
CA193408530 rs1009293830 COSM1625058	651	Q>H	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA193408527 rs1023663904	651	Q>R		No	ClinGen TOPMed
TCGA novel	652	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745564759 CA5077115	653	R>T		No	ClinGen ExAC gnomAD
rs771659629 CA5077116	654	H>P		No	ClinGen ExAC gnomAD
rs779626475 CA5077117	656	E>G		No	ClinGen ExAC gnomAD
rs138593664 CA193408554	658	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5077118 rs138593664	658	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA193408563 rs73456610	659	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373537355 rs1301271426	660	K>N		No	ClinGen TOPMed
CA373537408 rs1349408695	662	I>V		No	ClinGen gnomAD
CA193408666 rs144566039	663	H>R		No	ClinGen ESP TOPMed
CA5077145 rs368735744	664	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	666	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs954547752 CA193408681	667	Q>H		No	ClinGen TOPMed
rs770757188 COSM223333 CA5077146	668	A>T	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5077147 rs774497211	670	D>G		No	ClinGen ExAC gnomAD
CA373537460 rs1275717597	670	D>N		No	ClinGen gnomAD
CA193408698 rs909908245	672	G>R		No	ClinGen Ensembl
rs759785349 CA5077148	677	R>C		No	ClinGen ExAC gnomAD
CA373537506 rs759785349	677	R>G		No	ClinGen ExAC gnomAD
rs1251355203 CA373537507	677	R>H		No	ClinGen TOPMed gnomAD
rs767536996 CA5077149	680	S>N		No	ClinGen ExAC gnomAD
rs1428146980 CA373537536	681	K>R		No	ClinGen TOPMed gnomAD
CA373537542 rs11142365	682	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5077150 VAR_061869 rs11142365	682	H>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747775103 CA193408724	682	H>Y		No	ClinGen TOPMed gnomAD
CA373537578 rs1476961893	687	D>G		No	ClinGen gnomAD
CA193408739 rs907671093	688	N>D		No	ClinGen Ensembl
rs761179104 CA5077151	688	N>S		No	ClinGen ExAC gnomAD
rs764515103 CA5077152	690	L>I		No	ClinGen ExAC gnomAD
CA373537599 rs1431392633	690	L>P		No	ClinGen gnomAD
rs748788617 CA5077154	696	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1386869825 CA373537665	696	E>V		No	ClinGen gnomAD
TCGA novel	697	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5077155 rs765611246	698	L>F		No	ClinGen ExAC gnomAD
TCGA novel	701	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373537745 rs1233090559	701	K>T		No	ClinGen TOPMed gnomAD
rs551665441 CA5077156	702	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA193408762 rs567018664	702	T>I		No	ClinGen 1000Genomes
rs567018664 CA373537759	702	T>N		No	ClinGen 1000Genomes
TCGA novel	702	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780880319 CA5077158	705	R>I		No	ClinGen ExAC gnomAD
CA5077159 rs377339585	708	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA373537884 rs1256730188	712	S>N		No	ClinGen TOPMed
rs756133746 CA5077160	716	G>R		No	ClinGen ExAC gnomAD
rs1193000938 CA373537954	717	S>G		No	ClinGen gnomAD
CA373539598 rs1391473119	718	L>S		No	ClinGen gnomAD
rs1288782599 CA373539663	721	M>I		No	ClinGen gnomAD
rs1433454651 CA373539652	721	M>V		No	ClinGen gnomAD
CA373539749 rs1587693022	725	T>I		No	ClinGen Ensembl
CA5077184 rs780323844	726	C>F		No	ClinGen ExAC gnomAD
rs771845452 CA5077183	726	C>R		No	ClinGen ExAC gnomAD
CA5077185 rs747203351	726	C>W		No	ClinGen ExAC TOPMed gnomAD
CA373539791 rs1162733084	727	N>S		No	ClinGen TOPMed gnomAD
CA5077188 rs776725660	729	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1379425772 CA373539916	733	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs59648118 RCV000947177 CA5077191	733	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5077192 rs763432893	735	A>T		No	ClinGen ExAC gnomAD
CA5077193 rs766844934	736	S>G		No	ClinGen ExAC gnomAD
CA373539953 rs1253672709	737	T>I		No	ClinGen gnomAD
CA5077194 rs201085538	742	I>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1413602263 CA373540038	743	N>S		No	ClinGen gnomAD
CA193411729 rs934992948	744	V>A		No	ClinGen TOPMed
CA5077195 rs760378911	747	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA373540140 rs1360229130	748	K>E		No	ClinGen gnomAD
rs757142205 CA5077198	750	V>I		No	ClinGen ExAC gnomAD
rs1248366327 CA373540222	751	T>I		No	ClinGen TOPMed
CA5077199 rs367632988	752	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373540311 rs1564059992	755	N>D		No	ClinGen Ensembl
CA5077200 CA373540343 rs577507828	755	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139825108 CA193411765	756	L>R		No	ClinGen ESP
rs1223266707 CA373540381	757	I>M		No	ClinGen gnomAD
CA193411776 rs951856515	757	I>R		No	ClinGen Ensembl
CA5077201 rs758232187	757	I>V		No	ClinGen ExAC gnomAD
CA5077217 rs753296981	759	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1326083670 CA373540554	760	C>Y		No	ClinGen TOPMed
CA373540623 rs370470042	764	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370470042 CA5077222	764	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs758285133 CA5077221	764	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs892515654 CA373540631	765	I>L		No	ClinGen TOPMed gnomAD
CA193411984 rs892515654	765	I>V		No	ClinGen TOPMed gnomAD
rs751289591 CA5077223	767	K>E		No	ClinGen ExAC TOPMed gnomAD
CA373540744 rs1489168254	771	I>L		No	ClinGen gnomAD
rs375626595 CA5077225	774	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs546879358 CA5077226	775	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1564060326 CA373540826	776	T>A		No	ClinGen Ensembl
CA5077228 rs756256869	778	I>T		No	ClinGen ExAC gnomAD
CA5077230 rs749833143	779	S>F		No	ClinGen ExAC gnomAD
rs1019789332 CA193412027	780	E>A		No	ClinGen gnomAD
rs771522033 CA5077232	781	K>N		No	ClinGen ExAC
CA373540945 rs1400272193	783	K>Q		No	ClinGen gnomAD
TCGA novel	785	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434353444 CA373541074	789	M>V		No	ClinGen gnomAD
CA373541102 rs146040116	791	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5077234 rs146040116	791	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373541131 rs1360914285	793	S>P		No	ClinGen TOPMed gnomAD
TCGA novel	794	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435582053 CA373541163	795	L>H		No	ClinGen gnomAD
rs772322636 CA5077235	796	R>C		No	ClinGen ExAC TOPMed gnomAD
rs183526530 CA5077236	796	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs374927227 CA5077237	797	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5077239 rs772670596	799	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA5077259 rs201420907	802	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	804	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	807	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5077261 rs765868555	810	Q>K		No	ClinGen ExAC gnomAD
CA373546731 rs1176548466	810	Q>R		No	ClinGen gnomAD
rs561321099 CA193425266	811	R>T		No	ClinGen Ensembl
rs774312663 CA5077262	813	L>*		No	ClinGen ExAC gnomAD
CA5077263 rs759367574	815	K>I		No	ClinGen ExAC gnomAD
rs1050298776 CA193425306	817	K>R		No	ClinGen gnomAD
CA373546780 rs1050298776	817	K>T		No	ClinGen gnomAD
rs767366494 CA5077264	820	M>T		No	ClinGen ExAC gnomAD
CA373546817 rs1375770047	822	R>T		No	ClinGen Ensembl
CA373546825 rs1382666428	823	A>G		No	ClinGen gnomAD
CA5077265 rs752391450	825	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA373546836 rs1334522903	825	Q>P		No	ClinGen gnomAD
rs1587717825 CA373546872	830	G>A		No	ClinGen Ensembl
rs1353584580 CA373546876	831	A>S		No	ClinGen TOPMed
rs374680348 CA5077266	831	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs764161081 CA5077267	832	E>K		No	ClinGen ExAC gnomAD
rs1320251759 CA373546911	836	P>L		No	ClinGen TOPMed
rs1587717867 CA373546933	839	Y>S		No	ClinGen Ensembl
CA193425347 rs1006221174	840	Q>*		No	ClinGen Ensembl
COSM1226834 rs779118175 CA5077271	841	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5077272 rs750993006	841	T>I		No	ClinGen ExAC TOPMed gnomAD
CA193425364 rs750993006	841	T>K		No	ClinGen ExAC TOPMed gnomAD
rs369192162 CA5077282	842	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA373546965 rs1253821611	843	V>I		No	ClinGen TOPMed
CA373546972 rs1233993311	844	P>A		No	ClinGen gnomAD
CA373546974 rs1275650544	844	P>L		No	ClinGen gnomAD
CA373546983 rs1194160162	846	I>L		No	ClinGen gnomAD
CA5077285 rs775366059	848	N>D		No	ClinGen ExAC gnomAD
CA373547024 rs931647307	851	N>K		No	ClinGen TOPMed gnomAD
CA373547030 rs1452360647	852	S>F		No	ClinGen gnomAD
rs760440704 CA5077286	853	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1199537290	853	S>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1390407930 CA373547038	854	L>F		No	ClinGen TOPMed gnomAD
CA373547120 rs946440680	863	N>D		No	ClinGen gnomAD
CA193427378 rs946440680	863	N>H		No	ClinGen gnomAD
TCGA novel	865	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762133199 CA5077310	866	D>N		No	ClinGen ExAC
CA373547192 rs1271286860	867	E>V		No	ClinGen gnomAD
rs1334236345 CA373547207 COSM1314894	868	I>T	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs565034567 CA5077312	870	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1203109562 CA373547308	874	E>D		No	ClinGen gnomAD
CA193427398 rs1043587301	877	S>A		No	ClinGen Ensembl
CA5077314 rs766452902	881	C>Y		No	ClinGen ExAC gnomAD
rs752054268 CA5077315	883	T>M		No	ClinGen ExAC gnomAD
TCGA novel	883	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	884	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5077319 rs756913631	888	T>S		No	ClinGen ExAC gnomAD
CA5077344 rs746462843	889	I>V		No	ClinGen ExAC TOPMed gnomAD
rs754524518 CA5077345	891	Q>K		No	ClinGen ExAC
CA5077346 rs781347981	891	Q>P		No	ClinGen ExAC gnomAD
CA193427859 rs1051043400	892	E>D		No	ClinGen Ensembl
rs769761295 CA5077348	892	E>K		No	ClinGen ExAC TOPMed
CA5077349 rs140830744	893	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA373548617 rs1236154542	894	T>I		No	ClinGen TOPMed gnomAD
rs749502877 CA5077350	896	R>K		No	ClinGen ExAC gnomAD
CA5077352 rs774306337	897	E>A		No	ClinGen ExAC gnomAD
CA5077353 rs774306337	897	E>G		No	ClinGen ExAC gnomAD
rs771116742 CA5077351	897	E>K		No	ClinGen ExAC gnomAD
rs201481191 CA5077354	898	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5077355 rs776013279	901	E>K		No	ClinGen ExAC gnomAD
rs767335393 CA5077358	902	Q>H		No	ClinGen ExAC gnomAD
rs540527267 CA5077356	902	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1168846901 CA373548792	905	E>D		No	ClinGen TOPMed
rs1455874239 CA373548787	905	E>G		No	ClinGen gnomAD
rs1564074734 CA373548841	908	K>N		No	ClinGen Ensembl
CA373548954 rs1266631587	915	D>E		No	ClinGen TOPMed
CA5077361 rs562127615	915	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1442830480 CA588218708	921	I>K*		No	ClinGen gnomAD
TCGA novel	922	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777434915 CA5077366	923	Q>E		No	ClinGen ExAC gnomAD
CA373549178 rs1214863097	923	Q>H		No	ClinGen gnomAD
rs777434915 CA373549160	923	Q>K		No	ClinGen ExAC gnomAD
CA5077381 rs767165832	924	V>I		No	ClinGen ExAC gnomAD
CA5077382 rs752186270	927	R>S		No	ClinGen ExAC gnomAD
rs778093200 CA193428181	927	R>T		No	ClinGen gnomAD
TCGA novel	931	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1261960280 CA373549481	931	P>S		No	ClinGen TOPMed
rs1564074969 CA373549522	933	K>E		No	ClinGen Ensembl
rs777822948 CA5077384	936	V>L		No	ClinGen ExAC gnomAD
TCGA novel	939	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5077385 rs753711173	944	S>G		No	ClinGen ExAC gnomAD
CA5077387 rs778654653 CA5077389	945	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5077386 rs200904880	945	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1564075020 CA373549832	946	F>S		No	ClinGen Ensembl
TCGA novel	947	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs940304838	948	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	949	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373549908 rs780124157	949	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5077390 rs780124157	949	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs749815955 CA5077392 CA5077391	950	M>L		No	ClinGen ExAC TOPMed gnomAD
CA373549925 rs1264955913	950	M>R		No	ClinGen gnomAD
rs777235315 CA5077393	951	Q>E		No	ClinGen ExAC gnomAD
rs1393577458 CA373549963	951	Q>R		No	ClinGen gnomAD
rs1401105641 CA373549975	952	C>R		No	ClinGen gnomAD
CA373549989 rs1319963606	952	C>S		No	ClinGen gnomAD
rs1319963606 CA373549986	952	C>Y		No	ClinGen gnomAD
rs748581730 CA5077394	955	E>K		No	ClinGen ExAC gnomAD
rs773670036 CA5077397 COSM216145	957	D>N	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5077399 rs767221025	961	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5077400 rs775268552	962	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	963	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564076209 CA373551434	966	Y>N		No	ClinGen Ensembl
rs1282775906 CA588648244	969	Y>*		No	ClinGen gnomAD
CA373551515 rs1210272769	970	G>A		No	ClinGen gnomAD
CA373551531 rs1439628131	971	I>M		No	ClinGen gnomAD
CA373551535 rs771417726	972	R>G		No	ClinGen ExAC gnomAD
rs1438880623 CA373551595	976	K>*		No	ClinGen gnomAD
CA373551609 rs1587724763	977	F>V		No	ClinGen Ensembl
COSM285211 CA5077419 rs371533849	978	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA373551630 rs1396517655	978	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs532203884 CA5077421	979	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs761827285 CA193429660	980	S>G		No	ClinGen ExAC TOPMed gnomAD
rs761827285 CA5077422	980	S>R		No	ClinGen ExAC TOPMed gnomAD
rs750360162 CA5077424	982	Q>P		No	ClinGen ExAC gnomAD
CA373551731 rs1306009707	985	E>*		No	ClinGen gnomAD
rs1312213472 CA373551766	987	T>I		No	ClinGen TOPMed
rs766140543 CA5077426	988	P>L		No	ClinGen ExAC gnomAD
CA373551792 rs1400604232	989	H>Y		No	ClinGen TOPMed
CA5077427 rs751830146	990	H>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1362217315 CA373551885	995	E>A		No	ClinGen TOPMed
CA373551906 rs1564076356	996	R>S		No	ClinGen Ensembl
TCGA novel	998	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781334586 CA5077429	1001	M>V		No	ClinGen ExAC gnomAD
CA193429762 rs113873672	1003	Y>C		No	ClinGen Ensembl
rs1194104838 CA373552014	1003	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1004	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5077431 rs756248517	1009	E>K		No	ClinGen ExAC gnomAD
rs1194165781 CA373552229	1011	N>S		No	ClinGen gnomAD
CA5077432 rs778490445	1015	F>C		No	ClinGen ExAC TOPMed gnomAD
rs749778024 CA5077433	1017	V>I		No	ClinGen ExAC TOPMed gnomAD
CA373552504 rs1423659940	1022	N>S		No	ClinGen TOPMed gnomAD
CA193429903 rs949776448	1025	M>T		No	ClinGen TOPMed
rs754414457 CA373552643	1028	I>L		No	ClinGen ExAC gnomAD
rs760370074 CA193429909	1028	I>N		No	ClinGen Ensembl
rs754414457 CA5077454	1028	I>V		No	ClinGen ExAC gnomAD
CA373552658 rs1416268890	1030	E>*		No	ClinGen gnomAD
rs1289390375 CA373552666	1031	R>Q		No	ClinGen gnomAD
CA5077456 rs779337326	1031	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746278336 CA5077457	1032	R>K		No	ClinGen ExAC gnomAD
CA193429955 rs377000589	1033	V>M		No	ClinGen ESP TOPMed gnomAD
CA5077459 rs780751713	1037	V>F		No	ClinGen ExAC TOPMed gnomAD
rs769316608 CA5077461	1038	V>A		No	ClinGen ExAC gnomAD
rs747781398 CA5077460	1038	V>I		No	ClinGen ExAC gnomAD
CA373552723 COSM1462803 rs1269991282	1040	T>A	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA373552725 rs1489361030	1040	T>S		No	ClinGen gnomAD
rs1332504979 CA373552729	1041	A>S		No	ClinGen gnomAD
rs538844815 CA373552791	1049	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5077466 rs774331529 CA5077465	1051	F>L		No	ClinGen ExAC gnomAD
rs767313342 CA5077467	1052	I>V		No	ClinGen ExAC TOPMed gnomAD
rs770468980 CA5077484	1059	N>D		No	ClinGen ExAC gnomAD
CA5077485 rs774193877	1059	N>S		No	ClinGen ExAC
rs145830194 CA193431015	1066	M>V		No	ClinGen ESP gnomAD
CA373552922 rs1462550347	1067	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1067	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1068	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767740658 CA5077489	1070	F>S		No	ClinGen ExAC gnomAD
CA5077490 rs760978904	1072	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs764352059 CA5077491	1073	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1236087851 CA373552970	1074	G>C		No	ClinGen gnomAD
CA5077492 rs776991348	1075	P>L		No	ClinGen ExAC gnomAD
rs761842222 CA5077493	1076	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1253629809 CA373553020	1081	N>K		No	ClinGen TOPMed gnomAD
rs192311641 CA193431053	1084	N>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs1455851511 CA373553049	1085	L>F		No	ClinGen gnomAD
rs983733477 CA193431054	1087	A>S		No	ClinGen TOPMed gnomAD
CA5077497 rs766735961	1089	Q>H		No	ClinGen ExAC gnomAD
rs758899203 CA5077496	1089	Q>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1090	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA193431072 rs370996956	1091	R>Q		No	ClinGen ESP TOPMed gnomAD
CA5077498 rs149006982	1091	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374607515 CA193431080	1092	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs755324108 CA5077499	1092	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM1109786 rs1395025215 CA373553091	1093	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs201772265 CA5077500	1093	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5077501 rs373992254	1094	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5077502 rs367938382	1094	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs778433144 CA5077503	1095	I>V		No	ClinGen ExAC gnomAD
rs370748953 CA5077504	1096	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs775436455 CA5077506	1099	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs746869603 CA5077507	1100	P>L		No	ClinGen ExAC gnomAD

No associated diseases with Q8IY18

1 regional properties for Q8IY18

Type	Name	Position	InterPro Accession
domain	RecF/RecN/SMC, N-terminal	53 - 1053	IPR003395

Functions

		Description
EC Number
Subcellular Localization	Nucleus Chromosome Nucleus, PML body Chromosome, telomere	Associates with chromatin (PubMed:25931565) Colocalizes with SMC6 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) 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)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
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).
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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).
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.

3 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
single-stranded DNA binding	Binding to single-stranded DNA.

15 GO annotations of biological process

Name	Definition
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
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.
chromosome condensation	The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells.
chromosome segregation	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.
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.
internal peptidyl-lysine acetylation	The addition of an acetyl group to a non-terminal lysine residue in a protein.
mitotic cell cycle phase transition	The cell cycle process by which a cell commits to entering the next mitotic cell cycle phase.
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.
positive regulation of maintenance of mitotic sister chromatid cohesion	Any process that increases the extent to which the association between sister chromatids of a replicated chromosome is maintained during a mitotic cell cycle.
protein localization to chromosome, centromeric region	Any process in which a protein is transported to, or maintained at, the centromeric region of a chromosome.
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.
stem cell population maintenance	The process by which an organism or tissue maintains a population of stem cells of a single type. This can be achieved by a number of mechanisms: stem cell asymmetric division maintains stem cell numbers; stem cell symmetric division increases them; maintenance of a stem cell niche maintains the conditions for commitment to the stem cell fate for some types of stem cell; stem cells may arise de novo from other cell types.
telomere maintenance via recombination	Any recombinational process that contributes to the maintenance of proper telomeric length.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q08204	SMC5	Structural maintenance of chromosomes protein 5	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8CG46	Smc5	Structural maintenance of chromosomes protein 5	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MATPSKKTST	PSPQPSKRAL	PRDPSSEVPS	KRKNSAPQLP	LLQSSGPFVE	GSIVRISMEN
70	80	90	100	110	120
FLTYDICEVS	PGPHLNMIVG	ANGTGKSSIV	CAICLGLAGK	PAFMGRADKV	GFFVKRGCSR
130	140	150	160	170	180
GMVEIELFRA	SGNLVITREI	DVAKNQSFWF	INKKSTTQKI	VEEKVAALNI	QVGNLCQFLP
190	200	210	220	230	240
QDKVGEFAKL	SKIELLEATE	KSIGPPEMHK	YHCELKNLRE	KEKQLETSCK	EKTEYLQKMV
250	260	270	280	290	300
QRNERYKQDV	ERFYERKRHL	DLIEMLEAKR	PWVEYENVRQ	EYEEVKLVRD	RVKEEVRKLK
310	320	330	340	350	360
EGQIPVTCRI	EEMENERHNL	EARIKEKATD	IKEASQKCKQ	KQDVIERKDK	HIEELQQALI
370	380	390	400	410	420
VKQNEELDRQ	RRIGNTRKMI	EDLQNELKTT	ENCENLQPQI	DAITNDLRRI	QDEKALCEGE
430	440	450	460	470	480
IIDKRRERET	LEKEKKSVDD	HIVRFDNLMN	QKEDKLRQRF	RDTYDAVLWL	RNNRDKFKQR
490	500	510	520	530	540
VCEPIMLTIN	MKDNKNAKYI	ENHIPSNDLR	AFVFESQEDM	EVFLKEVRDN	KKLRVNAVIA
550	560	570	580	590	600
PKSSYADKAP	SRSLNELKQY	GFFSYLRELF	DAPDPVMSYL	CCQYHIHEVP	VGTEKTRERI
610	620	630	640	650	660
ERVIQETRLK	QIYTAEEKYV	VKTSFYSNKV	ISSNTSLKVA	QFLTVTVDLE	QRRHLEEQLK
670	680	690	700	710	720
EIHRKLQAVD	SGLIALRETS	KHLEHKDNEL	RQKKKELLER	KTKKRQLEQK	ISSKLGSLKL
730	740	750	760	770	780
MEQDTCNLEE	EERKASTKIK	EINVQKAKLV	TELTNLIKIC	TSLHIQKVDL	ILQNTTVISE
790	800	810	820	830	840
KNKLESDYMA	ASSQLRLTEQ	HFIELDENRQ	RLLQKCKELM	KRARQVCNLG	AEQTLPQEYQ
850	860	870	880	890	900
TQVPTIPNGH	NSSLPMVFQD	LPNTLDEIDA	LLTEERSRAS	CFTGLNPTIV	QEYTKREEEI
910	920	930	940	950	960
EQLTEELKGK	KVELDQYREN	ISQVKERWLN	PLKELVEKIN	EKFSNFFSSM	QCAGEVDLHT
970	980	990	1000	1010	1020
ENEEDYDKYG	IRIRVKFRSS	TQLHELTPHH	QSGGERSVST	MLYLMALQEL	NRCPFRVVDE
1030	1040	1050	1060	1070	1080
INQGMDPINE	RRVFEMVVNT	ACKENTSQYF	FITPKLLQNL	PYSEKMTVLF	VYNGPHMLEP
1090	1100
NTWNLKAFQR	RRRRITFTQP	S