AiPD: Autoinhibited Protein Database

O60566

Gene name	BUB1B (BUBR1, MAD3L, SSK1)
Protein name	Mitotic checkpoint serine/threonine-protein kinase BUB1 beta
Names	MAD3/BUB1-related protein kinase, hBUBR1, Mitotic checkpoint kinase MAD3L, Protein SSK1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:701
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-84 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-84 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

910-933 (Activation loop from InterPro)

Target domain	750-1045 (Catalytic domain of the Serine/Threonine kinase, Vertebrate Spindle assembly checkpoint protein BubR1)
Relief mechanism
Assay

References

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

Autoinhibited structure

Activated structure

10 structures for O60566

Entry ID	Method	Resolution	Chain	Position	Source
2WVI	X-ray	180 A	A	57-220	PDB
3SI5	X-ray	220 A	A/B	57-220	PDB
4GGD	X-ray	244 A	C/D	20-42	PDB
5JJA	X-ray	235 A	C/D	647-720	PDB
5K6S	X-ray	279 A	B	663-681	PDB
5KHU	EM	480 A	Q	1-1050	PDB
5LCW	EM	400 A	S	1-560	PDB
5SWF	X-ray	282 A	B	668-676	PDB
6TLJ	EM	380 A	S	1-1050	PDB
AF-O60566-F1	Predicted				AlphaFoldDB

878 variants for O60566

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002242501 rs2037039121	1	M>missing	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002515823 rs147549987 RCV000475422 RCV000120414 CA157741	4	V>M	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1218056057 CA391676478 RCV002233060	7	E>K	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002447349 rs554782320 RCV002242256 CA7475315	8	G>A	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs768279736 CA7475318 RCV002233660 RCV003163227	9	G>A	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1392369693 VAR_008852 RCV002327592 RCV001244388 CA391676881	15	M>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases a colorectal cancer cell line [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs1364339094 RCV001067637 CA391676896	16	S>F	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs777141944 RCV003169610 RCV002242211 CA268764641 COSM3672033 COSM3672034	18	E>D	Mosaic variegated aneuploidy syndrome 1 prostate Inborn genetic diseases [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA7475352 VAR_028921 rs534297115	36	R>Q	Mosaic variegated aneuploidy syndrome 1 (mva1) PCS [Ensembl, UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000007150 RCV000120422 CA157765 rs56079734 RCV001594817 VAR_040402 RCV002482837 RCV000989284	40	T>M	Carcinoma of colon Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002242403 rs368079817 CA268764759	42	Q>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP
CA7475355 RCV002381865 RCV002235565 rs750858057	46	A>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002240964 rs2037081264 RCV002402593	55	L>V	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV002412010 RCV002241945 rs748915007	60	R>G	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV002235095 CA7475361 rs748915007	60	R>W	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002240470 RCV002416408 CA7475409 rs769980774	70	T>I	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
rs777922307 CA7475410 RCV002240981	71	G>E	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002239381 rs2037144496	71	G>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002233055 CA7475413 rs774353130 RCV002449011	77	V>I	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002486351 RCV003169595 CA391678536 rs760085736 CA7475414 RCV002242466	78	W>C	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002231798 RCV000540478 rs1212671249 CA391678847 RCV002476149 COSM217075	81	Y>C	liver Mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV001236478 rs2037149727	86	E>K	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs751056896 CA7475441 RCV000476985	91	Q>H	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002434001 CA391679003 rs1595511034 RCV002235111	92	G>A	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002242110 rs1446063325	98	M>K	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001042361 rs2037150605	104	R>G	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
CA7475448 RCV002447195 rs373830262 RCV002241517	108	A>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7475454 rs769350713 RCV000500457	114	R>*	Mosaic variegated aneuploidy syndrome 1 (mva1) Variant assessed as Somatic; 0.0 impact. Mosaic variegated aneuploidy syndrome 1 [Ensembl, NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA7475456 rs748512524 RCV001051130 COSM699973	115	Y>H	lung Variant assessed as Somatic; 0.0 impact. Mosaic variegated aneuploidy syndrome 1 [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001055671 rs2037151440	120	R>*	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002241144 rs1349349252 RCV002451514 CA391679358	120	R>Q	Variant assessed as Somatic; 0.0 impact. Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV002242059 rs759232092 RCV002456428 CA7475460	123	N>S	Variant assessed as Somatic; 0.0 impact. Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002240570 CA7475479 rs748721987	130	R>H	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA16614452 rs946027171 RCV002230085 RCV002323671	131	L>V	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002329288 RCV002242120 rs2037225300	140	S>R	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA7475486 RCV002252130 RCV002230311 rs763623522	147	I>T	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA391681201 RCV002242289 RCV002341677 rs776363221	153	Q>R	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA7475490 RCV002240154 RCV001759956 rs764923350	155	Y>C	Mosaic variegated aneuploidy syndrome 1 (mva1) Colorectal cancer Mosaic variegated aneuploidy syndrome 1 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001213151 CA7475491 rs546538543	156	I>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP
RCV001294085 rs2037226022	158	W>*	Premature chromatid separation trait [ClinVar]	Yes	ClinVar dbSNP
rs77520855 RCV002240390 CA7475493	162	Y>H	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs532319590 CA7475497 RCV002235906 RCV002345825	170	K>E	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs2037226711 RCV002241542	171	A>P	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
CA7475498 RCV002241689 rs756702953 RCV003166648	173	A>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA268774026 RCV001060520 rs552380700	173	A>V	Variant assessed as Somatic; 0.0 impact. Mosaic variegated aneuploidy syndrome 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP
RCV002232288 CA7475499 rs375798678 RCV002350275	181	Q>R	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001037076 rs1442788795	183	A>T	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
CA391681463 rs145028054 RCV002233252	184	E>K	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP
CA7475504 RCV002241987 rs587778145	191	S>Y	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1179465577 RCV001218336	193	H>missing	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
CA118485 rs28989186 RCV000007152 RCV000007153	194	R>*	Mosaic variegated aneuploidy syndrome 1 (mva1) Premature chromatid separation trait (pcs) Mosaic variegated aneuploidy syndrome 1 Premature chromatid separation trait [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs567916146 RCV002232289 CA7475507 RCV001764570	194	R>Q	Colorectal cancer Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001209103 rs1403423766 CA391683078	199	R>*	Mosaic variegated aneuploidy syndrome 1 (mva1) Mosaic variegated aneuploidy syndrome 1 [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002242073 RCV002357145 rs779260067	199	R>P	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA7475523 RCV000468964 rs768417752 RCV003168720	202	R>Q	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs746647687 RCV002234799 CA7475522	202	R>W	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002357138 RCV002241997 rs780541154 CA7475524	204	T>S	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1566819827 RCV000690896 CA391683256	211	E>Q	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002234841 rs769213287 CA391683283	212	E>D	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs893191577 CA268782604 RCV001292657	219	S>P	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs767511302 RCV002241297	222	P>missing	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002228399 CA157777 rs587778146 RCV000120426	226	T>P	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs992789522 RCV001053809	237	T>missing	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs1407334063 CA391683499 RCV000763964 RCV002233057	246	G>E	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA391683525 rs1440328650 RCV002232290	250	K>N	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs531786139 RCV002233504 CA268783503	256	R>I	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs146387899 RCV000471425 RCV002402226 CA7475570	258	L>F	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA157783 rs148159407 RCV000120428 RCV002408626 RCV000763965 RCV002228400	269	N>D	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002235404 rs1429987495 RCV002415929 CA391684078	269	N>S	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV003166479 rs2037344658 RCV002241616	274	V>I	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs776666761 CA7475577 RCV002437068 RCV002241908	278	N>S	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002241825 rs2037344931	280	D>H	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002437026 rs2037344963 RCV002242029	280	D>V	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001331827 rs2037345499	286	E>G	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs1411048840 RCV002372784 RCV002240167	290	P>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs760345452 CA7475586 RCV002242315	292	V>I	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002369683 rs756759220 CA7475589 RCV000641240	298	P>S	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1263513288 RCV002233665 CA391684555	299	P>A	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002442413 rs746825915 CA7475594 RCV002232822	303	A>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7475596 rs781357180 RCV002234777	308	L>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001059973 rs2037346846	309	Q>*	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
CA391684809 rs1369363382 RCV002234188	315	T>I	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV003163615 rs771382233 RCV002241204 CA7475601	320	E>G	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7475620 RCV002381758 RCV002234957 rs749377720	325	G>D	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV003153860 rs774654439 CA7475622 RCV002235097	326	N>S	Variant assessed as Somatic; 0.0 impact. Mosaic variegated aneuploidy syndrome 1 Ovarian cancer [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2037350544 RCV002240356	328	A>T	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs141953425 RCV000120430 RCV000472793 CA157787 RCV001543132 RCV000763966 RCV001762251 RCV001762250	334	P>L	Colorectal cancer Mosaic variegated aneuploidy syndrome 1 Mosaic variegated aneuploidy syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs145184714 RCV002397225 RCV002233501 CA7475626	335	A>P	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002402606 RCV001207868 rs145184714 CA7475627	335	A>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002233056 CA391685298 rs777810016	348	A>P	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
RCV001292902 rs545784401 RCV002543019 CA7475636	348	A>V	Mosaic variegated aneuploidy syndrome 1 Premature chromatid separation trait [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000210495 rs1801376	349	R>=	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001510398 RCV000120431 CA157790 VAR_008853 rs1801376	349	R>Q	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA391685336 RCV002240227 rs1453705308 RCV002393266	351	P>L	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1264518438 RCV002239284	357	K>Q	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs1060499942 RCV000472241 CA16614360	360	P>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002242405 rs981618923 CA268790984	375	E>K	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs386783327 CA16614595 RCV000468452	376	G>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs990478595 RCV002320274 RCV002239377 CA268791038	380	Q>P	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA7475667 RCV002241815 RCV001751559 rs202114756	384	S>G	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1017842 RCV000462438 RCV001675628 RCV000120433 VAR_028922 CA157796	390	E>D	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002481362 RCV002469151 RCV001764362 rs778590557 RCV002522756 RCV002230306	391	E>missing	Colorectal cancer Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV002242168 rs2037501965	395	K>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002234278 CA268791118 rs923688322 RCV002334483	396	M>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA391687398 RCV002234911 rs1595526383	401	E>D	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002546918 RCV002242220 rs1333792633	405	A>S	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs750703763 RCV002233673 CA7475676 RCV003163235	407	V>G	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002233500 RCV002264967 CA7475677 RCV002533257 rs28989188	409	E>D	Mosaic variegated aneuploidy syndrome 1 (mva1) Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002240225 CA391687629 rs763272400	416	R>L	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
COSM1372603 rs755579898 CA391687628 RCV002543088 RCV002241768	416	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002418510 RCV002240372 rs2037503291	419	V>F	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA7475682 RCV002234797 rs150983783	421	R>Q	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000530485 rs201251790 RCV001764569 CA7475681	421	R>W	Colorectal cancer Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002242175 rs2037503673	427	Q>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs1566824564 CA391688935 RCV002233431	451	K>E	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000763967 rs373256667 RCV002233502 RCV003162886 CA7475711	454	K>R	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001197272 RCV001753859 CA7475718 RCV002230307 RCV002522757 rs747886467	461	Q>P	Colorectal cancer Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1566824608 RCV002233269 CA391689220	463	R>*	Mosaic variegated aneuploidy syndrome 1 (mva1) Mosaic variegated aneuploidy syndrome 1 [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1431082197 RCV002242311 RCV002395747 CA391689252	464	T>I	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs948366328 RCV002240330	465	G>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs587778140 RCV002228396 CA157744 RCV000120415	466	D>A	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002390618 rs117485407 RCV002269316 CA7475741 RCV002235324	471	T>M	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002393555 RCV002241333 rs2037548728	472	M>L	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV002230308 rs1060499944 CA16614759	481	Q>P	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001052300 CA7475749 rs780725534	482	I>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002388078 RCV002233503 rs777814938 CA7475752	484	S>C	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002234981 rs778632806 CA7475755	485	E>A	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002230086 rs770704003 RCV000765203 CA7475754	485	E>K	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA157747 RCV000120416 RCV002228397 rs368023159	488	K>N	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs146795655 CA157750 RCV000120417 RCV001753502 RCV002228398 RCV000765204	493	T>I	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2037550680 RCV002298924 RCV002241675	498	V>Y	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002241099 TCGA novel rs765632100 RCV003163609	503	C>Y	Variant assessed as Somatic; impact. Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinVar NCI-TCGA dbSNP
rs1158168896 RCV002395674 CA391690437 RCV002241951	505	A>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002240577 CA7475790 rs758067530	511	A>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000120418 RCV002230310 rs587778141	540	K>missing	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs138332995 RCV002229656 RCV003165612 RCV000765205 CA7475854 RCV001357479	544	P>S	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003163578 COSM1608314 COSM3706531 rs759527622 RCV002240982 CA7475857	548	P>S	liver Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000505636 CA7475858 rs767213728	550	R>*	Variant assessed as Somatic; 0.0 impact. Mosaic variegated aneuploidy syndrome 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000007164 VAR_028923 CA118500 rs28989187 RCV000007165	550	R>Q	Mosaic variegated aneuploidy syndrome 1 (mva1) Premature chromatid separation trait (pcs) Mosaic variegated aneuploidy syndrome 1 Premature chromatid separation trait MVA1; heterozygous compound with nonsense mutation [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2037587414 RCV002241728	551	V>G	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs1289685422 RCV002241890 CA391691642	562	K>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002241112 rs2037588264 RCV002411789	564	S>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV002240947 CA7475864 RCV002411751 rs750961031	569	S>L	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2037589344 RCV002242496	578	C>W	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002241752 rs1425763171 CA391692417	601	I>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001292938 RCV002411933 CA391692478 rs1260445282	609	C>F	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000007169 rs1566826570 RCV000007168	611	F>missing	Mosaic variegated aneuploidy syndrome 1 Premature chromatid separation trait [ClinVar]	Yes	ClinVar dbSNP
RCV000641231 rs556193159 CA268798086 RCV002406390	616	R>H	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001598627 RCV000120419 rs1801528 RCV000468405 VAR_008854 CA157756	618	V>A	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM98868 RCV002232284 rs541881263 CA7475894	625	I>M	Mosaic variegated aneuploidy syndrome 1 stomach [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1431396417 RCV002241587 CA391692581	625	I>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002233159 CA7475902 rs370388424	640	P>L	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs148348158 RCV002477614 RCV001331826 CA7475905 RCV002533619	648	T>I	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA391692775 rs1401171363 RCV002232977	652	Q>*	Mosaic variegated aneuploidy syndrome 1 (mva1) Mosaic variegated aneuploidy syndrome 1 [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA391692778 rs1158333848 RCV002240255	652	Q>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000797736 rs373789523 CA7475908	658	T>I	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA268798175 rs756309201 RCV002233058	660	Y>C	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV003166211 rs746933398 RCV002234912 CA7475911	661	S>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002241601 rs2037638096	663	T>I	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs776731111 RCV002241937 CA7475913	665	S>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002233698 rs557521971 RCV003153823 COSM554924 CA7475940	677	R>H	lung Variant assessed as Somatic; 0.0 impact. Mosaic variegated aneuploidy syndrome 1 Ovarian cancer [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002241583 rs2037668271	688	S>T	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002241695 rs754481856 CA7475947	698	I>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1225413973 RCV002241491 CA391693797	704	P>L	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA7475953 rs1416579359 RCV003166307 RCV002234810	711	N>S	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002241123 rs2037670357	715	E>K	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002420440 RCV002232285 CA7475978 rs758664966	722	W>R	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002526134 RCV002232286 COSM416505 CA7475980 rs577591919	727	R>C	Mosaic variegated aneuploidy syndrome 1 (mva1) urinary_tract Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [Ensembl, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD
CA7475986 rs759242053 RCV000641226	737	L>*	Mosaic variegated aneuploidy syndrome 1 (mva1) Mosaic variegated aneuploidy syndrome 1 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000007158 RCV000007159 rs1392909108	738	S>missing	Mosaic variegated aneuploidy syndrome 1 Premature chromatid separation trait [ClinVar]	Yes	ClinVar dbSNP
CA7475990 RCV002240971 rs763676435 RCV002418692	745	I>V	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002235044 CA268800971 rs1007572176	757	K>N	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA268801215 rs765119108 RCV002240845	765	D>G	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs750364303 RCV000464463 CA7476012	770	R>*	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA391694896 rs1595533765 RCV002234183	772	Y>*	Mosaic variegated aneuploidy syndrome 1 (mva1) Mosaic variegated aneuploidy syndrome 1 [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002241904 RCV002456403 rs1025942169 CA268801230	775	C>G	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA391694925 rs1025942169 RCV002232853	775	C>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002241721 CA391694998 rs1338798216 RCV002447279	783	V>M	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
COSM1372605 CA7476019 RCV003168719 RCV002230087 rs142705245	784	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs756459860 RCV001880163 RCV001268170	788	S>missing	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002453802 RCV002235294 rs150707631 CA7476039	797	S>A	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000227847 rs878854277 RCV002450678 CA10583237	802	P>L	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002456413 rs1341275919 RCV002241942 CA391695134	802	P>S	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000476337 rs1060499948 CA16614456	805	F>S	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA118494 RCV000007160 VAR_028924 rs28989182 RCV000007161	814	R>H	Mosaic variegated aneuploidy syndrome 1 (mva1) Premature chromatid separation trait (pcs) Mosaic variegated aneuploidy syndrome 1 Variant assessed as Somatic; 9.263e-05 impact. Premature chromatid separation trait MVA1; heterozygous compound with nonsense mutation [Ensembl, ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD
CA7476049 RCV002239277 rs772750245	817	E>G	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2037728032 RCV001232377	826	Y>*	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002240192 CA7476057 RCV003160369 rs181352808	836	H>Q	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7476058 rs753916523 RCV002231799	838	Y>C	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002504759 VAR_028925 RCV000007155 rs28989181 RCV000007154 CA118488	844	L>F	Mosaic variegated aneuploidy syndrome 1 (mva1) Premature chromatid separation trait (pcs) Mosaic variegated aneuploidy syndrome 1 Premature chromatid separation trait MVA1; associated with H-921; heterozygous compound with nonsense mutation [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA391685994 rs1264165576 RCV003162887 RCV002233059	853	Y>H	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA268758301 RCV002240326 RCV003160408 rs375105548	854	I>V	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV001232097 rs749762155	856	H>missing	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
rs867416581 RCV002231800 CA268758326	858	I>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1566828619 CA391686139 RCV002424654 RCV000695132	861	L>W	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA391686252 rs1595535434 RCV002234782	869	I>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA391686264 RCV002429666 RCV002240258 rs1360702866	870	V>M	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002451297 RCV002240550 CA7476087 RCV002240354 rs146821149 CA391686542	886	R>S	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs757927200 RCV002239288 RCV002434444 CA7476107	898	Y>C	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs28989184 VAR_028926 CA268760970	909	I>T	MVA1; heterozygous compound with nonsense mutation [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV000230606 CA7476110 rs747000103	910	V>E	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002242165 rs2037812878 RCV002438749	915	S>R	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA7476113 rs145639700 RCV002233167	918	L>F	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA118491 RCV000007157 RCV001552489 VAR_028927 rs28989183 RCV000007156	921	Q>H	Mosaic variegated aneuploidy syndrome 1 (mva1) Premature chromatid separation trait (pcs) Mosaic variegated aneuploidy syndrome 1 Premature chromatid separation trait MVA1; associated with F-844; heterozygous compound with nonsense mutation [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV002233433 CA7476117 RCV002440543 rs141119531	921	Q>L	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002241696 rs74380950 CA7476120	926	T>I	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002436924 rs950826338 CA268761026 RCV001236513	928	S>T	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000733229 RCV002436374 rs143232848 CA7476124 RCV001252831 RCV000463687	929	G>S	Mosaic variegated aneuploidy syndrome 1 Microcephaly Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002240975 rs751509832	931	R>P	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001766711 RCV002433979 RCV002235057 COSM1372606 CA7476126 rs751509832	931	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine Colorectal cancer Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
COSM73874 RCV002241718 rs766052877 RCV002538498 RCV002221621 CA7476125	931	R>W	ovary Variant assessed as Somatic; 0.0 impact. Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA7476128 rs781299320 RCV000465135	934	Q>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs550832943 RCV003166291 RCV002234785 CA7476129	935	I>M	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs974385539 RCV002239325	945	C>Y	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002230309 CA7476153 RCV002436375 rs775844666	956	I>V	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002242141 rs2037833828	966	K>R	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002433989 rs762290287 CA391688287 RCV002235079	967	E>D	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002437043 rs1284860869 RCV002241860	968	H>Q	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA391688360 RCV000641233 rs1191638586	978	W>*	Mosaic variegated aneuploidy syndrome 1 (mva1) Mosaic variegated aneuploidy syndrome 1 [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1060499945 CA16614362 RCV000466079	993	W>C	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs377612791 RCV000533586 CA7476180	999	R>Q	Variant assessed as Somatic; 0.0 impact. Mosaic variegated aneuploidy syndrome 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002240234 CA7476179 rs201246315 RCV003160417	999	R>W	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002515824 RCV001560420 CA157768 RCV000120423 RCV000457975 rs34998711	1004	N>S	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002242185 CA7476183 rs370506288	1007	A>G	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs750610809 RCV002241293 RCV002504282 CA7476184	1008	T>A	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000007162 CA118497 RCV002482838 RCV000007163 rs28989185 VAR_028928 RCV002509147	1012	L>P	Mosaic variegated aneuploidy syndrome 1 (mva1) Premature chromatid separation trait (pcs) Mosaic variegated aneuploidy syndrome 1 Premature chromatid separation trait MVA1; heterozygous compound with nonsense mutation [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV002233407 CA391690002 rs1566831785	1019	M>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002233681 CA391690093 rs1566831798	1023	F>V	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs770219125 CA391690173 RCV002235786	1025	T>N	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002319702 CA7476193 rs771709698 RCV002242206	1026	T>A	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002241271 rs2037890025 RCV002319676	1028	Q>E	Mosaic variegated aneuploidy syndrome 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001357136 RCV001764363 rs34700927 CA7476195 RCV001294084	1032	N>H	Colorectal cancer Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs761776038 RCV002234871 CA7476198	1042	T>A	Mosaic variegated aneuploidy syndrome 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs752991610 CA7475312	3	A>T		No	ClinGen ExAC gnomAD
CA391676456 rs1276841522	3	A>V		No	ClinGen TOPMed gnomAD
CA391676461 rs1595506262	4	V>G		No	ClinGen Ensembl
CA391676482 rs1595506272	7	E>G		No	ClinGen Ensembl
rs554782320 CA7475316	8	G>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	9	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391676498 rs1160797735	10	A>D		No	ClinGen TOPMed
CA391676497 rs1379043354	10	A>S		No	ClinGen TOPMed gnomAD
CA7475320 rs747863124	11	L>P		No	ClinGen ExAC gnomAD
rs747863124 CA391676502	11	L>Q		No	ClinGen ExAC gnomAD
CA268762057 rs776214483	11	L>V		No	ClinGen ExAC gnomAD
CA391676852 rs1440436210	13	E>K		No	ClinGen gnomAD
CA391676883 rs1402555575	15	M>I		No	ClinGen TOPMed
CA7475342 rs769542191	15	M>V		No	ClinGen ExAC TOPMed gnomAD
CA391676908 rs1566814475	18	E>A		No	ClinGen Ensembl
rs748869091 CA7475345	20	D>N		No	ClinGen ExAC gnomAD
CA268764649 rs201360106	21	E>K		No	ClinGen Ensembl
CA268764652 rs999773545	23	E>V		No	ClinGen TOPMed
rs1454979829 CA391676975	24	L>Q		No	ClinGen TOPMed
CA7475347 rs774391455	24	L>V		No	ClinGen ExAC gnomAD
CA7475348 rs759550625	25	S>N		No	ClinGen ExAC gnomAD
rs1458893678 CA391677022	28	N>S		No	ClinGen gnomAD
rs771937088 CA7475349	29	V>A		No	ClinGen ExAC gnomAD
CA391677055 rs1417220294	31	P>L		No	ClinGen TOPMed gnomAD
CA391677057 rs1417220294	31	P>R		No	ClinGen TOPMed gnomAD
CA7475351 rs760805647	36	R>W		No	ClinGen ExAC gnomAD
rs753844539 CA7475353	37	I>N		No	ClinGen ExAC gnomAD
rs902578942 CA268764737	40	T>A		No	ClinGen Ensembl
CA391677170 rs1402691715	42	Q>H		No	ClinGen gnomAD
rs747374746 CA268764765	44	A>G		No	ClinGen Ensembl
CA7475354 rs765327985	45	L>P		No	ClinGen ExAC TOPMed gnomAD
CA268764787 rs765327985	45	L>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	45	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs889926604 CA268764819	46	A>G		No	ClinGen TOPMed
TCGA novel	48	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780380816 CA7475357	49	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1355489592 CA391677238	50	A>S		No	ClinGen gnomAD
CA268764849 rs375885859	51	C>R		No	ClinGen ESP
CA391677258 rs1271543867	52	N>D		No	ClinGen Ensembl
CA7475359 rs755690280	54	T>S		No	ClinGen ExAC
CA391677307 rs1221553263	55	L>R		No	ClinGen TOPMed
rs1017567589 CA268764908	56	Q>K		No	ClinGen Ensembl
CA391677334 rs1308870659	58	Q>K		No	ClinGen gnomAD
TCGA novel	60	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7475362 rs770498351	60	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7475404 rs779439053	62	F>L		No	ClinGen ExAC TOPMed gnomAD
CA391678366 rs746902649	63	E>*		No	ClinGen ExAC gnomAD
rs746902649 CA7475405	63	E>K		No	ClinGen ExAC gnomAD
rs200884355 CA7475406	67	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA7475407 rs781034323	67	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	76	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772497259 CA7475415	80	R>G		No	ClinGen ExAC gnomAD
rs1566815941 CA391678561	80	R>T		No	ClinGen Ensembl
CA7475434 rs553555716	82	I>N		No	ClinGen 1000Genomes ExAC gnomAD
rs147832586 CA391678868	83	S>C		No	ClinGen ESP ExAC gnomAD
CA7475435 rs147832586	83	S>G		No	ClinGen ESP ExAC gnomAD
CA391678872 rs1384029883	83	S>I		No	ClinGen gnomAD
rs762658973 CA7475438	86	E>A		No	ClinGen ExAC gnomAD
rs1306074692 CA391678953	88	N>K		No	ClinGen TOPMed gnomAD
CA7475439 rs765985399	91	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	93	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767044701 CA7475442	94	K>R		No	ClinGen ExAC gnomAD
rs1206351353 CA391679034	95	E>K		No	ClinGen gnomAD
rs1206351353 CA391679036	95	E>Q		No	ClinGen gnomAD
CA268769554 rs998599773	96	S>G		No	ClinGen Ensembl
CA7475444 rs756102609	97	N>D		No	ClinGen ExAC TOPMed gnomAD
CA391679081 rs1446063325	98	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7475445 rs571056559	100	T>M		No	ClinGen ExAC gnomAD
TCGA novel	103	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391679176 rs1172896245	106	V>A		No	ClinGen gnomAD
CA391679197 rs1566816096	108	A>V		No	ClinGen Ensembl
CA7475452 rs780299420	111	G>R		No	ClinGen ExAC
rs747501110 CA7475453	113	K>N		No	ClinGen ExAC gnomAD
rs1372115983 COSM3420266 CA391679271 COSM3420265	114	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA391679302 rs1451286639	116	Y>C		No	ClinGen gnomAD
rs1260735150 CA391679340	118	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	118	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268769666 rs927579272	123	N>D		No	ClinGen TOPMed gnomAD
COSM554926 rs587778144 RCV000120424 CA157771	130	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs35923791 CA7475480	133	N>S		No	ClinGen ExAC TOPMed gnomAD
rs773640183 CA7475481	135	P>S		No	ClinGen ExAC gnomAD
rs1446686612 CA391681088	137	D>A		No	ClinGen gnomAD
rs745502240 CA7475482	137	D>N		No	ClinGen ExAC gnomAD
CA391681094 rs1300604887	138	M>L		No	ClinGen gnomAD
rs1455613910 CA712711382	141	Y>*	Mosaic variegated aneuploidy syndrome 1 (mva1) [Ensembl]	No	ClinGen TOPMed
CA7475484 rs774958064	143	H>R		No	ClinGen ExAC gnomAD
CA7475485 rs760128178 CA391681156	146	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	150	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236344276 CA391681198	153	Q>E		No	ClinGen gnomAD
CA7475487 rs776363221	153	Q>L		No	ClinGen ExAC gnomAD
CA7475489 rs761819521	155	Y>H		No	ClinGen ExAC gnomAD
CA268773982 rs1050594239	159	A>T		No	ClinGen TOPMed
TCGA novel	160	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758667204 CA7475492	161	E>D		No	ClinGen ExAC gnomAD
TCGA novel	161	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391681262 rs1555381180	162	Y>C		No	ClinGen Ensembl
CA7475494 rs751855402	164	A>G		No	ClinGen ExAC gnomAD
CA7475495 rs751855402	164	A>V		No	ClinGen ExAC gnomAD
CA391681306 rs1278838636	168	F>C		No	ClinGen TOPMed
rs1394970080 CA391681319	170	K>R		No	ClinGen gnomAD
rs1173326479 CA391681346	174	I>T		No	ClinGen gnomAD
rs1595514509 CA391681370	177	E>G		No	ClinGen Ensembl
rs1228587741 CA391681386	178	G>A		No	ClinGen TOPMed
rs1198228762 CA391681411	180	Q>R		No	ClinGen TOPMed gnomAD
rs889281728 CA268774046	181	Q>*		No	ClinGen Ensembl
rs749701720 CA7475500	182	K>E		No	ClinGen ExAC gnomAD
CA391681446 rs1442788795	183	A>P		No	ClinGen gnomAD
CA391681448 rs1442788795	183	A>S		No	ClinGen gnomAD
rs145028054 CA268774066	184	E>Q		No	ClinGen ESP TOPMed
CA391681505 rs1366806489	187	E>G		No	ClinGen gnomAD
CA391681514 rs1217475652	188	R>G		No	ClinGen gnomAD
rs1317611777 CA391681534	189	L>P		No	ClinGen gnomAD
CA7475503 rs746666250	190	Q>R		No	ClinGen ExAC gnomAD
rs587778145 CA157774 RCV000120425	191	S>F		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA268782540 rs1037175607	196	F>Y		No	ClinGen TOPMed
CA391683037 rs1595518743	197	Q>*		No	ClinGen Ensembl
CA7475520 rs754371960	198	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7475519 rs754371960	198	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7475521 rs779260067	199	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA391683088 rs1355011165	200	V>M		No	ClinGen gnomAD
TCGA novel	205	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1439164044 CA391683208	208	L>F		No	ClinGen gnomAD
rs1283843121 CA391683220	209	E>K		No	ClinGen gnomAD
CA391683276 rs1414790322	212	E>G		No	ClinGen TOPMed
CA268782597 rs1010705334	216	V>F		No	ClinGen TOPMed
CA391683317 rs1203645365	216	V>G		No	ClinGen TOPMed gnomAD
rs866449781 CA268782598	217	F>L		No	ClinGen Ensembl
CA268782599 rs1022059019	218	E>G		No	ClinGen TOPMed
CA391683327 COSM159439 rs1248918109	218	E>Q	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7475530 rs762990874	220	S>F		No	ClinGen ExAC TOPMed gnomAD
rs762990874 CA268782611	220	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA7475532 rs770794291	221	V>A		No	ClinGen ExAC gnomAD
TCGA novel	221	V>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1367497131 CA391683342	221	V>I		No	ClinGen gnomAD
CA391683350 rs199509124	222	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7475534 rs199509124	222	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA391683354 rs1290506364	223	Q>*		No	ClinGen TOPMed gnomAD
CA391683363 rs760391628	224	R>L		No	ClinGen TOPMed gnomAD
rs760391628 CA16622068	224	R>Q		No	ClinGen TOPMed gnomAD
CA7475538 rs764083187	228	A>T		No	ClinGen ExAC gnomAD
rs754283832 CA7475539	229	E>A		No	ClinGen ExAC gnomAD
CA391683413 rs1341919179	232	S>R		No	ClinGen TOPMed gnomAD
rs960109358 CA268782676	233	K>R		No	ClinGen TOPMed gnomAD
CA391683445 rs1351673318	237	T>A		No	ClinGen TOPMed
rs1290523114 CA391683449	237	T>I		No	ClinGen TOPMed
rs1440480264 CA391683450	238	A>T		No	ClinGen TOPMed
rs765577911 CA7475542	239	R>K		No	ClinGen ExAC gnomAD
CA391683475 rs1249369516	242	I>V		No	ClinGen gnomAD
CA7475543 rs750823062	243	I>T		No	ClinGen ExAC gnomAD
rs997764298 CA268782691	243	I>V		No	ClinGen Ensembl
CA268782702 rs867444045	244	R>C		No	ClinGen gnomAD
rs56158360 CA7475544	244	R>H		No	ClinGen ExAC gnomAD
rs1335600447 CA391683492	245	V>I		No	ClinGen TOPMed
CA268782710 rs1029763636	247	G>S		No	ClinGen Ensembl
rs1413771160 CA391683507	248	A>T		No	ClinGen gnomAD
CA391683515 rs1474009832	249	L>V		No	ClinGen TOPMed gnomAD
rs1388148529 CA391683726	251	A>G		No	ClinGen gnomAD
CA7475568 rs777417259	254	Q>H		No	ClinGen ExAC gnomAD
CA391683800 rs1328338073	255	N>S		No	ClinGen gnomAD
CA7475569 rs531786139	256	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391683875 rs1272480557	259	Q>P		No	ClinGen TOPMed gnomAD
rs587778147 RCV000120427 CA157780	260	N>S		No	ClinGen ClinVar Ensembl dbSNP
rs1229665204 CA391683962	263	P>L		No	ClinGen gnomAD
rs1288496293 CA391683986	265	Q>E		No	ClinGen gnomAD
CA268783524 rs745796231	266	M>R		No	ClinGen ExAC gnomAD
CA7475572 rs745796231	266	M>T		No	ClinGen ExAC gnomAD
CA268783528 rs746135465	267	Q>E		No	ClinGen Ensembl
CA391684038 rs1364245208	267	Q>P		No	ClinGen TOPMed
rs1253644704 CA391684112	271	R>G		No	ClinGen gnomAD
TCGA novel	271	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs533967447 CA7475574	272	I>N		No	ClinGen 1000Genomes ExAC gnomAD
CA7475573 rs775204194	272	I>V		No	ClinGen ExAC gnomAD
rs199743655 CA268783552	274	V>A		No	ClinGen Ensembl
CA7475576 rs768901850	276	D>G		No	ClinGen ExAC gnomAD
rs1314519697 CA391684206	276	D>Y		No	ClinGen TOPMed
TCGA novel	278	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391684277 rs1432406151	279	A>S		No	ClinGen TOPMed
CA268783577 rs1051019827	281	E>A		No	ClinGen TOPMed
rs1411409004 CA391684320	281	E>D		No	ClinGen gnomAD
rs769897552 CA391684329	282	A>P		No	ClinGen ExAC TOPMed gnomAD
rs769897552 CA7475579	282	A>S		No	ClinGen ExAC TOPMed gnomAD
CA391684362 rs1369362790	284	T>A		No	ClinGen gnomAD
rs891396491 CA268783598	285	A>E		No	ClinGen TOPMed
CA391684406 rs1457745893	286	E>D		No	ClinGen gnomAD
rs763386438 CA391684429	288	S>A		No	ClinGen ExAC gnomAD
rs763386438 CA7475581	288	S>P		No	ClinGen ExAC gnomAD
rs1368552689 CA391684441	289	K>Q		No	ClinGen gnomAD
TCGA novel	290	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411048840 CA391684453	290	P>S		No	ClinGen gnomAD
rs1349353478 CA391684462	291	T>A		No	ClinGen gnomAD
rs371305662 CA7475584	291	T>K		No	ClinGen ESP ExAC gnomAD
CA7475587 rs760345452	292	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7475585 rs760345452	292	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1321995748 CA391684521	296	I>V		No	ClinGen gnomAD
rs986620736 CA268783631	298	P>L		No	ClinGen Ensembl
CA7475590 rs778578509	299	P>L		No	ClinGen ExAC gnomAD
CA391684563 rs1251095688	300	M>V		No	ClinGen gnomAD
rs1243619358 CA391684581	301	P>A		No	ClinGen Ensembl
CA268783637 rs1017808264	301	P>L		No	ClinGen Ensembl
TCGA novel	302	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547663349 CA7475592	302	R>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7475595 rs768465911	303	A>V		No	ClinGen ExAC gnomAD
rs1595519812 CA391684617	304	K>Q		No	ClinGen Ensembl
TCGA novel	311	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391684764 rs1168537647	313	W>R		No	ClinGen gnomAD
CA268783693 rs571538806	316	G>D		No	ClinGen Ensembl
CA391684852 rs1595519832	318	S>A		No	ClinGen Ensembl
CA268783701 rs766438640	318	S>C		No	ClinGen Ensembl
rs1595519844 CA391684898	321	H>P		No	ClinGen Ensembl
CA268783744 rs774455318	322	R>G		No	ClinGen ExAC gnomAD
rs1310227913 CA391684919	322	R>K		No	ClinGen gnomAD
CA7475617 rs748360387	324	R>C		No	ClinGen ExAC gnomAD
CA7475618 rs748360387	324	R>G		No	ClinGen ExAC gnomAD
CA7475619 rs777880062	324	R>H		No	ClinGen ExAC gnomAD
rs746389101 CA7475623	327	T>K		No	ClinGen ExAC TOPMed gnomAD
CA268783898 rs971891189	331	I>T		No	ClinGen TOPMed
rs1246651719 CA391685100	332	A>S		No	ClinGen gnomAD
TCGA novel	332	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268783900 rs374682772	333	V>I		No	ClinGen Ensembl
rs762332962 CA7475628	335	A>G		No	ClinGen ExAC gnomAD
rs1406041311 CA391685183	339	S>G		No	ClinGen TOPMed
CA7475631 rs754970139	342	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs190909040 CA7475632	343	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1438462261 CA391685248	344	V>M		No	ClinGen gnomAD
rs1366874217 CA391685280	346	E>G		No	ClinGen gnomAD
RCV000120429 rs587778148	348	A>missing		No	ClinVar dbSNP
CA7475635 rs777810016	348	A>T		No	ClinGen ExAC TOPMed
CA391685308 rs1330083535	349	R>*		No	ClinGen gnomAD
rs200788206 CA7475638	350	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs200788206 CA268783974	350	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1566823726 CA391686863	353	M>I		No	ClinGen Ensembl
CA7475639 rs767779974	353	M>L		No	ClinGen ExAC gnomAD
CA7475640 rs548650011	353	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs971985015 CA268790939	354	T>A		No	ClinGen gnomAD
CA7475656 rs753991264	355	P>S		No	ClinGen ExAC gnomAD
CA157799 rs370655726 RCV000120434	356	C>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs370655726 CA7475657	356	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA268790948 rs896037493	356	C>Y		No	ClinGen TOPMed
rs1264518438 CA391686896	357	K>*		No	ClinGen TOPMed
rs779101820 CA7475658	358	I>T		No	ClinGen ExAC TOPMed gnomAD
CA391686955 rs1306309896	361	S>R		No	ClinGen gnomAD
CA7475659 rs745991501	363	N>S		No	ClinGen ExAC gnomAD
rs1365938809 CA391687012	367	S>I		No	ClinGen gnomAD
CA391687047 rs1595526295	370	K>N		No	ClinGen Ensembl
rs147150527 CA7475663	376	G>E		No	ClinGen ExAC TOPMed gnomAD
rs147150527 CA7475662	376	G>V		No	ClinGen ExAC TOPMed gnomAD
rs748892468 CA7475665	378	P>L		No	ClinGen ExAC gnomAD
CA268791023 VAR_054549 rs17851677	378	P>S		No	ClinGen UniProt Ensembl dbSNP
CA391687178 rs1383613116	383	Q>E		No	ClinGen TOPMed
CA7475669 rs771602632	388	A>V		No	ClinGen ExAC TOPMed gnomAD
rs878958836 CA268791092	389	S>T		No	ClinGen Ensembl
rs753706175 CA7475673	393	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1166944198 CA391687346	397	M>I		No	ClinGen TOPMed
CA7475674 rs761915692	399	C>S		No	ClinGen ExAC gnomAD
rs1444930683 CA391687369	400	K>E		No	ClinGen TOPMed
CA268791141 rs868561288	402	K>E		No	ClinGen Ensembl
rs1566823816 RCV000722182	402	K>missing		No	ClinVar dbSNP
CA391687451 rs1380909243	405	A>G		No	ClinGen gnomAD
CA391687444 rs1333792633	405	A>T		No	ClinGen gnomAD
rs1244371179 CA391687494	409	E>K		No	ClinGen TOPMed
RCV000120432 rs587778149 CA157793	411	S>C		No	ClinGen ClinVar Ensembl dbSNP
CA268791165 rs587778149	411	S>F		No	ClinGen Ensembl
rs1205878587 CA391687529	411	S>T		No	ClinGen TOPMed
TCGA novel	414	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268791171 rs978902021	414	E>K		No	ClinGen TOPMed
CA391687612 rs1226846793	415	I>T		No	ClinGen gnomAD
CA391687631 rs763272400	416	R>Q		No	ClinGen gnomAD
rs1210347119 CA391687737	423	K>Q		No	ClinGen gnomAD
CA7475701 rs781689041	431	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753178226 CA7475702	433	L>F		No	ClinGen ExAC gnomAD
TCGA novel	434	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7475704 rs778168059	437	E>G		No	ClinGen ExAC gnomAD
CA391688677 rs1301920527	440	A>G		No	ClinGen gnomAD
CA391688720 rs1251235123	442	M>I		No	ClinGen TOPMed
TCGA novel	448	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7475707 rs779407962	449	M>T		No	ClinGen ExAC gnomAD
CA7475706 rs758086809	449	M>V		No	ClinGen ExAC TOPMed gnomAD
rs746475397 CA7475708	450	E>Q		No	ClinGen ExAC gnomAD
CA391688998 rs1356876567	453	L>P		No	ClinGen gnomAD
CA7475709 rs768077240	453	L>V		No	ClinGen ExAC gnomAD
CA7475712 rs748046304	456	I>S		No	ClinGen ExAC gnomAD
CA7475715 rs141013408	457	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7475716 rs766760271	458	T>I		No	ClinGen ExAC gnomAD
rs1595527859 CA391689123	459	T>A		No	ClinGen Ensembl
CA391689127 rs1167349649	459	T>I		No	ClinGen gnomAD
rs75763304 CA7475717	460	Q>*		No	ClinGen ExAC gnomAD
rs75763304 CA268793812	460	Q>K		No	ClinGen ExAC gnomAD
CA391689161 rs1457795566	461	Q>E		No	ClinGen gnomAD
rs1363122158 CA391689207	462	E>G		No	ClinGen gnomAD
rs1389722608 CA391689237	464	T>S		No	ClinGen TOPMed
CA268793874 rs948366328	465	G>S		No	ClinGen Ensembl
rs587778140 CA391689298	466	D>G		No	ClinGen TOPMed gnomAD
rs1332535867 CA391689278	466	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA268793878 rs267604170	467	Q>*		No	ClinGen Ensembl
CA7475739 rs750482625	468	Q>H*		No	ClinGen ExAC
TCGA novel	470	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391689648 rs1450573514	474	T>A		No	ClinGen gnomAD
CA7475744 rs754370059	474	T>I		No	ClinGen ExAC gnomAD
rs754370059 CA391689674	474	T>R		No	ClinGen ExAC gnomAD
rs757547240 CA7475745	476	E>K		No	ClinGen ExAC gnomAD
rs1426185645 CA391689736	477	T>I		No	ClinGen gnomAD
rs1015397777 CA268794315	478	T>P		No	ClinGen Ensembl
CA391689803 rs754657047	481	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA391689812 rs780725534	482	I>F		No	ClinGen ExAC TOPMed gnomAD
CA268794334 rs1014155529	483	A>T		No	ClinGen Ensembl
CA7475750 rs752308974	483	A>V		No	ClinGen ExAC gnomAD
CA268794368 rs770704003	485	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7475756 rs746070303	486	S>A		No	ClinGen ExAC gnomAD
rs772230439 CA7475757	487	Q>R		No	ClinGen ExAC gnomAD
rs1465653297 CA391689982	490	P>T		No	ClinGen gnomAD
CA7475758 rs760702620	491	G>A		No	ClinGen ExAC gnomAD
rs1446361038 CA391690103	495	S>F		No	ClinGen Ensembl
rs758011229 CA268794404	496	S>G		No	ClinGen Ensembl
rs1442067238 CA391690158	497	S>F		No	ClinGen TOPMed
rs930430841 CA268794436	498	V>D		No	ClinGen TOPMed
rs916717736 CA268794420	498	V>F		No	ClinGen TOPMed
CA391690186 rs1479874897	499	C>S		No	ClinGen TOPMed gnomAD
CA391690190 rs1479874897	499	C>Y		No	ClinGen TOPMed gnomAD
CA7475761 rs765632100	503	C>F		No	ClinGen ExAC gnomAD
CA7475760 rs762362984	503	C>R		No	ClinGen ExAC gnomAD
rs767032216 CA7475764	506	R>*		No	ClinGen ExAC TOPMed gnomAD
rs750377734 CA7475789	507	E>G		No	ClinGen ExAC TOPMed gnomAD
rs918041637 CA268795101	507	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	509	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391690694 rs1437990213	510	L>F		No	ClinGen gnomAD
rs747225593 CA7475792	512	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1214932804 CA391690741	514	I>V		No	ClinGen TOPMed
CA391690759 rs1384516309	516	Q>E		No	ClinGen gnomAD
CA391690774 rs1470056380	518	Q>*		No	ClinGen TOPMed
CA391690889 rs1170497747	521	S>C		No	ClinGen gnomAD
TCGA novel	521	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748132037 CA7475795	523	G>S		No	ClinGen ExAC gnomAD
rs967074229 CA268796315	525	S>G		No	ClinGen Ensembl
CA391691100 rs1226037382	526	V>A		No	ClinGen gnomAD
rs1566825445 CA391691113	527	P>H		No	ClinGen Ensembl
CA7475816 rs777968728	530	I>M		No	ClinGen ExAC TOPMed gnomAD
CA268796339 rs76546181	531	F>S		No	ClinGen Ensembl
CA391691177 rs1262226901	531	F>V		No	ClinGen gnomAD
CA391691217 rs1379524702	533	E>A		No	ClinGen TOPMed
rs771608041 CA7475817	534	F>L		No	ClinGen ExAC gnomAD
CA391691244 rs1191220487	534	F>S		No	ClinGen Ensembl
rs553420597 CA268796353	539	K>Q		No	ClinGen 1000Genomes
rs1446416934 CA391691393	542	K>E		No	ClinGen gnomAD
rs200997833 CA268796361	542	K>R		No	ClinGen Ensembl
rs138332995 CA7475855	544	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	544	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268796531 rs954789171	545	P>S		No	ClinGen TOPMed
rs774220723 CA7475856	546	A>P		No	ClinGen ExAC gnomAD
CA391691546 rs774220723	546	A>T		No	ClinGen ExAC gnomAD
rs1334979878 CA391691574	551	V>L		No	ClinGen gnomAD
CA391691583 rs1566825597	552	L>*		No	ClinGen Ensembl
CA391691591 rs1360859504	553	A>V		No	ClinGen TOPMed
TCGA novel	555	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391691611 rs1173638724	556	R>S		No	ClinGen TOPMed
rs943659464 CA268796542	557	P>R		No	ClinGen TOPMed
rs760788865 CA7475859	558	L>F		No	ClinGen ExAC gnomAD
rs764336262 CA7475860	559	A>T		No	ClinGen ExAC gnomAD
CA391691628 rs1221831901	560	V>I		No	ClinGen gnomAD
CA268796552 rs893593630	565	E>K		No	ClinGen TOPMed gnomAD
rs757353356 CA7475862	566	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7475863 rs145578529	567	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA391691704 rs1386393551	571	E>D		No	ClinGen gnomAD
TCGA novel	572	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268796563 rs1043308962	573	V>G		No	ClinGen TOPMed
CA391691715 rs1390700281	573	V>L		No	ClinGen gnomAD
CA268796566 rs946655503	574	S>F		No	ClinGen Ensembl
CA7475865 rs759013673	575	P>L		No	ClinGen ExAC gnomAD
TCGA novel	575	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7475866 rs559358302	576	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs747352704 CA7475867	578	C>Y		No	ClinGen ExAC gnomAD
CA391692139 rs1334573227	579	D>E		No	ClinGen gnomAD
rs149628229 CA268798047	579	D>G		No	ClinGen ESP
rs755313171 CA7475887	583	G>E		No	ClinGen ExAC
COSM1372604 rs781594629 CA7475888	588	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
CA391692261 rs759148358	588	S>R		No	ClinGen ExAC gnomAD
rs1295030829 CA391692264	589	E>K		No	ClinGen gnomAD
CA391692285 rs1305914904	590	D>Y		No	ClinGen gnomAD
rs1225598259 CA391692309	592	I>V		No	ClinGen gnomAD
CA391692328 rs1566826541	593	I>T		No	ClinGen Ensembl
CA391692334 rs1369257522	594	T>A		No	ClinGen TOPMed
TCGA novel	595	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268798062 rs994717799	595	G>S		No	ClinGen TOPMed gnomAD
CA268798066 rs965218077	598	N>S		No	ClinGen Ensembl
rs1202222343 CA391692384	598	N>Y		No	ClinGen gnomAD
rs756946537 CA7475890	600	T>S		No	ClinGen ExAC gnomAD
rs1566826557 CA391692426	602	C>Y		No	ClinGen Ensembl
rs1162999010 CA391692459	607	D>N		No	ClinGen TOPMed
CA391692474 rs1217885669	609	C>G		No	ClinGen TOPMed gnomAD
CA7475892 rs745336330	612	A>T		No	ClinGen ExAC gnomAD
CA7475893 rs771484427	614	A>G		No	ClinGen ExAC gnomAD
CA391692522 rs1429608588	616	R>C		No	ClinGen gnomAD
COSM699971 CA391692535 rs1174076635	618	V>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7475895 rs768489358	626	M>I		No	ClinGen ExAC gnomAD
rs1359983479 CA391692590	626	M>T		No	ClinGen gnomAD
rs184449375 CA268798097	626	M>V		No	ClinGen 1000Genomes
CA157759 RCV000120420 rs587778142	627	S>P		No	ClinGen ClinVar Ensembl dbSNP
CA7475896 rs776607305	631	L>P		No	ClinGen ExAC gnomAD
CA7475897 rs376072541	632	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7475898 rs765505645	633	S>T		No	ClinGen ExAC gnomAD
rs773602222 CA7475899	635	P>S		No	ClinGen ExAC gnomAD
rs1243559379 CA391692656	636	E>D		No	ClinGen TOPMed
CA7475901 rs766384327	637	R>G		No	ClinGen ExAC gnomAD
rs527987333 CA268798131	641	E>V		No	ClinGen 1000Genomes gnomAD
rs1349171668 CA391692717	646	V>I		No	ClinGen TOPMed
CA268798141 rs908335236	653	Q>R		No	ClinGen TOPMed
CA391692804 rs1476337218	654	T>I		No	ClinGen gnomAD
rs939783067 CA268798153	657	G>V		No	ClinGen gnomAD
CA7475909 rs757908748	659	I>V		No	ClinGen ExAC gnomAD
rs746933398 CA268798186	661	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7475912 rs768762205	664	L>F		No	ClinGen ExAC TOPMed gnomAD
CA391692904 rs768762205	664	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7475914 rs747909507	666	I>M		No	ClinGen ExAC gnomAD
CA391692924 rs1218957418	666	I>V		No	ClinGen gnomAD
CA7475916 rs773512389	668	K>R		No	ClinGen ExAC gnomAD
CA7475937 rs774658274	672	I>V		No	ClinGen ExAC gnomAD
CA268799828 rs143559902	675	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1373212889 CA391693297	676	S>G		No	ClinGen TOPMed
CA7475939 rs772150171	677	R>C		No	ClinGen ExAC TOPMed gnomAD
CA391693326 rs557521971	677	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs922898210 CA268799841	678	E>D		No	ClinGen Ensembl
CA391693356 rs1381288832	679	A>G		No	ClinGen TOPMed gnomAD
CA268799842 rs933099663	679	A>T		No	ClinGen Ensembl
CA391693358 rs1381288832	679	A>V		No	ClinGen TOPMed gnomAD
CA268799846 rs761234125	681	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1261699663 CA391693391	681	H>Q		No	ClinGen TOPMed
CA7475941 rs761234125	681	H>R		No	ClinGen ExAC TOPMed gnomAD
CA268799844 rs980772864	681	H>Y		No	ClinGen TOPMed
rs1271434927 CA391693404	682	S>T		No	ClinGen gnomAD
rs1286769327 CA391693415	683	S>P		No	ClinGen gnomAD
rs764406982 CA7475942	686	S>A		No	ClinGen ExAC gnomAD
rs200060772 CA7475944	691	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200060772 CA268799887	691	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7475943 rs754203479	691	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1595532914 CA391693598	692	V>G		No	ClinGen Ensembl
rs1204113732 CA391693629	694	S>I		No	ClinGen gnomAD
rs751226858 CA7475946	695	T>N		No	ClinGen ExAC gnomAD
CA391693695 rs1210363542	698	I>N		No	ClinGen TOPMed
rs780908763 CA7475948	699	K>E		No	ClinGen ExAC gnomAD
rs941855987 CA268799918	699	K>I		No	ClinGen Ensembl
rs752678855 CA7475949	699	K>N		No	ClinGen ExAC gnomAD
rs371124423 CA7475950	700	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA391693736 rs1431772304	701	L>V		No	ClinGen gnomAD
rs375388175 CA7475951	703	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs866257980 CA268799952	704	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA391693833 rs1176240468	707	L>P		No	ClinGen gnomAD
CA391693848 rs1325766936	708	E>G		No	ClinGen TOPMed
rs748990758 CA7475952	709	L>F		No	ClinGen ExAC gnomAD
CA7475955 rs770794026	711	N>K		No	ClinGen ExAC
rs1319659052 CA391693943	712	E>D		No	ClinGen gnomAD
rs1429921880 CA391693968	714	S>*		No	ClinGen TOPMed
rs1326535455 CA391693962	714	S>A		No	ClinGen TOPMed gnomAD
CA391694113 rs1339536435	717	P>S		No	ClinGen TOPMed
rs1472033228 CA391694122	718	T>P		No	ClinGen gnomAD
rs1490559927 CA391694160	721	P>S		No	ClinGen gnomAD
CA391694185 rs1439896698	722	W>*		No	ClinGen gnomAD
rs780276554 CA7475979	724	S>*		No	ClinGen ExAC gnomAD
rs1409451388 CA391694243	726	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	727	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438391058 CA391694259	727	R>P		No	ClinGen gnomAD
rs768783826 CA7475981	728	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776943945 CA7475982	729	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	730	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1374331027 CA391694349	735	P>R		No	ClinGen TOPMed
rs748748604 CA7475983	735	P>T		No	ClinGen ExAC gnomAD
CA391694364 rs1477129171	736	E>G		No	ClinGen TOPMed
CA7475987 rs767233349	738	S>G		No	ClinGen ExAC gnomAD
rs202132335 CA268800909	739	A>G		No	ClinGen 1000Genomes
TCGA novel	739	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775317745 CA7475988	740	S>A		No	ClinGen ExAC gnomAD
rs1317194612 CA391694414	741	A>P		No	ClinGen gnomAD
rs1360212119 CA391694445	744	C>Y		No	ClinGen gnomAD
CA7475991 rs753711342	745	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1350973893 CA391694511	749	P>Q		No	ClinGen TOPMed gnomAD
rs1407190533 CA391694531	750	M>I		No	ClinGen TOPMed gnomAD
rs1456788255 CA391694538	751	P>S		No	ClinGen gnomAD
CA268800964 rs889932075	754	E>D		No	ClinGen Ensembl
CA391694603 rs1595533549	755	I>M		No	ClinGen Ensembl
rs372569297 CA7475993	755	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs750166019 CA7475995	756	E>A		No	ClinGen ExAC gnomAD
CA7475994 rs750166019	756	E>G		No	ClinGen ExAC gnomAD
CA391694652 rs1216652807	759	I>V		No	ClinGen TOPMed
CA391694781 rs1246091997	764	E>G		No	ClinGen TOPMed
rs765119108 CA7476011	765	D>V		No	ClinGen ExAC TOPMed gnomAD
CA391694819 rs1429881927	767	C>R		No	ClinGen gnomAD
CA391694834 rs1448466298	768	I>V		No	ClinGen TOPMed
CA391694860 rs1422532977	770	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA391694866 rs1595533761	771	E>K		No	ClinGen Ensembl
rs1178406830 CA391694920	774	I>M		No	ClinGen gnomAD
rs1463854628 CA391694910	774	I>V		No	ClinGen gnomAD
rs886084267 CA268801247	779	K>*		No	ClinGen Ensembl
CA391694975 rs1301115559	779	K>N		No	ClinGen gnomAD
rs140368608 CA7476014	779	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7476015 rs368996088	781	F>L		No	ClinGen ESP ExAC gnomAD
CA7476016 CA391694988 rs751776754	781	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7476017 rs753021884	782	W>*		No	ClinGen ExAC gnomAD
rs755270206 CA7476018	784	A>S		No	ClinGen ExAC gnomAD
rs755270206 CA391695004	784	A>T		No	ClinGen ExAC gnomAD
CA391695014 rs1263053435	786	R>G		No	ClinGen gnomAD
rs756459860	788	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1262015416 CA391695039	789	A>V		No	ClinGen gnomAD
rs1201240905 CA391695074	794	I>M		No	ClinGen TOPMed gnomAD
CA391695070 rs1476637336	794	I>V		No	ClinGen gnomAD
CA391695112 rs1349572100	798	S>F		No	ClinGen gnomAD
TCGA novel	799	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139226455 CA268802937	800	P>S		No	ClinGen ESP TOPMed
rs1178541871 CA391695128	801	V>I		No	ClinGen TOPMed
CA391695143 rs1240090211	803	W>C		No	ClinGen gnomAD
rs779581144 CA7476043	803	W>R		No	ClinGen ExAC gnomAD
rs746199654 CA7476044	804	D>G		No	ClinGen ExAC gnomAD
rs1003355350 CA268802977	807	I>M		No	ClinGen TOPMed gnomAD
rs758693138 CA7476045	809	L>V		No	ClinGen ExAC TOPMed gnomAD
rs975163412 CA268802993	811	L>S		No	ClinGen Ensembl
CA7476046 rs780838450	812	K>M		No	ClinGen ExAC gnomAD
CA7476047 rs149955447	813	E>A		No	ClinGen ESP ExAC TOPMed
CA391695212 rs1595534902	813	E>D		No	ClinGen Ensembl
TCGA novel	813	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7476048 rs769288048	814	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1279903252 CA391695229	816	N>S		No	ClinGen TOPMed
rs749203600 CA391695259	818	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7476051 rs770807071	821	H>N		No	ClinGen ExAC gnomAD
TCGA novel	823	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145026343 CA268803044	825	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs145026343 CA391695359	825	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs145026343 CA7476052	825	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1268467915 CA391695374	826	Y>C		No	ClinGen TOPMed
CA157762 rs587778143 RCV000120421	827	Q>R		No	ClinGen ClinVar Ensembl dbSNP
rs367543489 CA7476054	829	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	830	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775770578 CA7476055	831	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7476056 rs546607638	836	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1468223993 CA391695521	839	I>V		No	ClinGen TOPMed
CA391695565 rs1284286016	843	T>A		No	ClinGen gnomAD
rs758774329 CA7476061	845	Q>L		No	ClinGen ExAC gnomAD
CA7476062 rs758774329	845	Q>R		No	ClinGen ExAC gnomAD
CA7476079 rs372003254	846	D>E		No	ClinGen ESP ExAC gnomAD
CA391685897 rs1334935219	846	D>V		No	ClinGen TOPMed gnomAD
rs1383259590 CA391685905	847	L>V		No	ClinGen TOPMed
CA7476080 rs766745181	848	L>F		No	ClinGen ExAC gnomAD
CA391685921 rs1595535391	849	Q>K		No	ClinGen Ensembl
rs143346774 CA7476081	850	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	850	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755369007 CA7476082	852	E>A		No	ClinGen ExAC gnomAD
rs1438130278 CA391685969	852	E>K		No	ClinGen TOPMed
CA391686023 rs1566828604	855	T>A		No	ClinGen Ensembl
rs777341912 CA7476084	856	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	859	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391686094 rs1431935093	859	T>I		No	ClinGen gnomAD
CA391686150 rs1172478712	862	I>V		No	ClinGen gnomAD
rs1412254854 CA391686172	863	I>T		No	ClinGen gnomAD
CA7476086 rs756781190	869	I>M		No	ClinGen ExAC gnomAD
rs1291840067 CA391686281	871	E>*		No	ClinGen TOPMed
rs1399035318 CA391686287	871	E>V		No	ClinGen gnomAD
CA391686310 rs1566828630	872	M>I		No	ClinGen Ensembl
CA391686324 rs1224008921	874	H>Y		No	ClinGen TOPMed
CA391686347 rs1296073612	875	K>E		No	ClinGen gnomAD
TCGA novel	876	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313468581 CA391686442	880	H>R		No	ClinGen TOPMed
CA391686475 rs1274168562	882	D>V		No	ClinGen gnomAD
CA391686535 rs1342870693	886	R>G		No	ClinGen gnomAD
CA391686557 rs1286849142	887	C>Y		No	ClinGen gnomAD
rs1271669859 CA391686607	890	L>R		No	ClinGen gnomAD
rs756903136 CA7476104	894	I>N		No	ClinGen ExAC gnomAD
rs778645750 CA7476105	896	D>N		No	ClinGen ExAC TOPMed gnomAD
rs778645750 CA7476106	896	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1595538961 CA391687498	902	K>N		No	ClinGen Ensembl
rs1595538965 CA391687507	903	N>S		No	ClinGen Ensembl
CA391687521 rs1327855653	904	N>S		No	ClinGen TOPMed
TCGA novel	906	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376152577 CA391687691	912	F>Y		No	ClinGen gnomAD
CA391687755 rs1292773090	914	Y>C		No	ClinGen TOPMed
rs1444565936 CA391687766	915	S>G		No	ClinGen gnomAD
rs768565777 CA7476111	916	V>I		No	ClinGen ExAC gnomAD
rs1595539040 CA391687827	917	D>G		No	ClinGen Ensembl
CA268760976 rs145639700	918	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7476115 rs773515346	920	V>M		No	ClinGen ExAC gnomAD
rs760104068 CA7476118	923	D>N		No	ClinGen ExAC gnomAD
rs760104068 CA7476119	923	D>Y	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7476121 rs761128578	928	S>G		No	ClinGen ExAC TOPMed gnomAD
CA7476123 rs139066741	928	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391687977 rs1399378297	930	F>L		No	ClinGen gnomAD
rs1402959166 CA391688012	933	V>L		No	ClinGen gnomAD
rs1484556062 CA391688032	934	Q>H		No	ClinGen TOPMed
rs964545269 CA268761059	936	L>P		No	ClinGen Ensembl
rs755941900 CA7476130	937	E>G		No	ClinGen ExAC gnomAD
rs1219557857 CA391688058	937	E>K		No	ClinGen gnomAD
CA391688082 rs1316544182	939	Q>E		No	ClinGen gnomAD
rs749583931 CA7476133	940	K>N		No	ClinGen ExAC gnomAD
CA268761082 rs974385539	945	C>S	Mosaic variegated aneuploidy syndrome 1 (mva1) [Ensembl]	No	ClinGen Ensembl
rs1199448465 CA391688132	946	S>F		No	ClinGen gnomAD
TCGA novel	946	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774457754 CA7476134	947	S>F		No	ClinGen ExAC gnomAD
CA7476135 rs746355420	949	Y>C		No	ClinGen ExAC gnomAD
rs1340959180 CA391688155	950	Q>E		No	ClinGen TOPMed
rs772525026 CA7476136	950	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	952	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1409110552 CA391688203	955	G>D		No	ClinGen TOPMed
rs1595540084 CA391688209	956	I>T		No	ClinGen Ensembl
rs1595540088 RCV001008480	957	A>missing		No	ClinVar dbSNP
CA7476154 rs747616023	960	A>T		No	ClinGen ExAC gnomAD
CA391688261 rs1566830782	964	L>S		No	ClinGen Ensembl
rs777100424 CA7476156	965	F>L		No	ClinGen ExAC gnomAD
CA7476158 rs770667608	968	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1263577809 CA391688306	970	Q>H		No	ClinGen TOPMed
rs377751129 CA7476159	970	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA391688303 rs377751129	970	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA391688323 rs1247090547	973	W>R		No	ClinGen gnomAD
CA268761713 rs930982752	975	G>E		No	ClinGen TOPMed
rs1191638586 CA391688362	978	W>L	Mosaic variegated aneuploidy syndrome 1 (mva1) [Ensembl]	No	ClinGen gnomAD
CA391688381 rs1240001685	981	S>G		No	ClinGen gnomAD
TCGA novel	983	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	986	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595542473 CA391689280	990	G>D		No	ClinGen Ensembl
rs1566831710 CA391689286	991	E>*		No	ClinGen Ensembl
rs1401587687 CA391689406	995	K>N		No	ClinGen gnomAD
CA391689491 rs1284413224	1000	I>L		No	ClinGen gnomAD
rs1222026369 CA391689606	1003	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1290614214 CA391689640	1004	N>H		No	ClinGen gnomAD
CA268763461 rs902224077	1005	D>E		No	ClinGen TOPMed gnomAD
rs781600621 CA268763458	1005	D>H		No	ClinGen ExAC TOPMed gnomAD
rs781600621 CA7476182	1005	D>N		No	ClinGen ExAC TOPMed gnomAD
rs750610809 CA391689808	1008	T>P		No	ClinGen ExAC TOPMed gnomAD
CA391689839 rs758666856	1009	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7476185 rs758666856	1009	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1367779530 CA391689855	1010	S>C		No	ClinGen TOPMed
CA7476186 rs374968269	1010	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162099722 CA391689866	1011	V>I		No	ClinGen TOPMed
rs755017710 CA7476187	1013	G>E		No	ClinGen ExAC gnomAD
CA268763504 rs79104296	1013	G>W		No	ClinGen Ensembl
rs781682685 CA7476188	1015	L>F		No	ClinGen ExAC gnomAD
CA391689960 rs1381206703	1016	A>V		No	ClinGen TOPMed
rs748723428 CA7476189	1017	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1017	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1427939209 CA391690034	1020	N>I		No	ClinGen gnomAD
CA391690038 rs1415681041	1020	N>K		No	ClinGen gnomAD
CA391690031 rs1427939209	1020	N>S		No	ClinGen gnomAD
rs976402578 CA268763546	1024	D>H		No	ClinGen TOPMed
CA7476192 rs770219125	1025	T>I		No	ClinGen ExAC gnomAD
rs1347040377 CA391690316	1034	A>T		No	ClinGen gnomAD
CA7476197 rs776542291	1038	V>A		No	ClinGen ExAC TOPMed gnomAD
rs764992665 CA7476199	1042	T>S		No	ClinGen ExAC gnomAD
rs1488161512 CA391690559	1044	P>L		No	ClinGen gnomAD
rs554186151 CA391690574	1046	A>P		No	ClinGen ExAC TOPMed gnomAD
rs554186151 CA7476201	1046	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7476202 rs766555413	1048	L>F		No	ClinGen ExAC TOPMed gnomAD
rs751744682 CA7476203	1049	F>S		No	ClinGen ExAC TOPMed gnomAD

3 associated diseases with O60566

[MIM: 176430]: Premature chromatid separation trait (PCS)

Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant. {ECO:0000269|PubMed:16411201}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 257300]: Mosaic variegated aneuploidy syndrome 1 (MVA1)

A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. {ECO:0000269|PubMed:15475955}. Note=The disease is caused by variants affecting the gene represented in this entry. MVA1 is caused by biallelic mutations in the BUB1B gene.

Without disease ID

Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant. {ECO:0000269|PubMed:16411201}. Note=The disease is caused by variants affecting the gene represented in this entry.
A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. {ECO:0000269|PubMed:15475955}. Note=The disease is caused by variants affecting the gene represented in this entry. MVA1 is caused by biallelic mutations in the BUB1B gene.

1 regional properties for O60566

Type	Name	Position	InterPro Accession
domain	Mad3/Bub1 homology region 1	55 - 226	IPR013212

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Nucleus Chromosome, centromere, kinetochore Cytoplasm, cytoskeleton, microtubule organizing center, centrosome	Cytoplasmic in interphase cells Associates with the kinetochores in early prophase Kinetochore localization requires BUB1, PLK1 and KNL1
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
anaphase-promoting complex	A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis. Substrate recognition by APC occurs through degradation signals, the most common of which is termed the Dbox degradation motif, originally discovered in cyclin B.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
kinetochore	A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
mitotic checkpoint complex	A multiprotein complex that functions as a mitotic checkpoint inhibitor of the anaphase-promoting complex/cyclosome (APC/C). In budding yeast this complex consists of Mad2p, Mad3p, Bub3p and Cdc20p, and in mammalian cells it consists of MAD2, BUBR1, BUB3, and CDC20.
outer kinetochore	The region of a kinetochore most external to centromeric DNA; this outer region mediates kinetochore-microtubule interactions.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

8 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
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.
meiotic sister chromatid cohesion, centromeric	The cell cycle process in which centromeres of sister chromatids are joined during meiosis.
metaphase/anaphase transition of mitotic cell cycle	The cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin.
mitotic spindle assembly checkpoint signaling	A signal transduction process that contributes to a mitotic cell cycle spindle assembly checkpoint, that delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle.
negative regulation of ubiquitin-protein transferase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin transferase activity.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
protein localization to chromosome, centromeric region	Any process in which a protein is transported to, or maintained at, the centromeric region of a chromosome.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O08901	Bub1	Mitotic checkpoint serine/threonine-protein kinase BUB1	Mus musculus (Mouse)	PR
Q9Z1S0	Bub1b	Mitotic checkpoint serine/threonine-protein kinase BUB1 beta	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAAVKKEGGA	LSEAMSLEGD	EWELSKENVQ	PLRQGRIMST	LQGALAQESA	CNNTLQQQKR
70	80	90	100	110	120
AFEYEIRFYT	GNDPLDVWDR	YISWTEQNYP	QGGKESNMST	LLERAVEALQ	GEKRYYSDPR
130	140	150	160	170	180
FLNLWLKLGR	LCNEPLDMYS	YLHNQGIGVS	LAQFYISWAE	EYEARENFRK	ADAIFQEGIQ
190	200	210	220	230	240
QKAEPLERLQ	SQHRQFQARV	SRQTLLALEK	EEEEEVFESS	VPQRSTLAEL	KSKGKKTARA
250	260	270	280	290	300
PIIRVGGALK	APSQNRGLQN	PFPQQMQNNS	RITVFDENAD	EASTAELSKP	TVQPWIAPPM
310	320	330	340	350	360
PRAKENELQA	GPWNTGRSLE	HRPRGNTASL	IAVPAVLPSF	TPYVEETARQ	PVMTPCKIEP
370	380	390	400	410	420
SINHILSTRK	PGKEEGDPLQ	RVQSHQQASE	EKKEKMMYCK	EKIYAGVGEF	SFEEIRAEVF
430	440	450	460	470	480
RKKLKEQREA	ELLTSAEKRA	EMQKQIEEME	KKLKEIQTTQ	QERTGDQQEE	TMPTKETTKL
490	500	510	520	530	540
QIASESQKIP	GMTLSSSVCQ	VNCCARETSL	AENIWQEQPH	SKGPSVPFSI	FDEFLLSEKK
550	560	570	580	590	600
NKSPPADPPR	VLAQRRPLAV	LKTSESITSN	EDVSPDVCDE	FTGIEPLSED	AIITGFRNVT
610	620	630	640	650	660
ICPNPEDTCD	FARAARFVST	PFHEIMSLKD	LPSDPERLLP	EEDLDVKTSE	DQQTACGTIY
670	680	690	700	710	720
SQTLSIKKLS	PIIEDSREAT	HSSGFSGSSA	SVASTSSIKC	LQIPEKLELT	NETSENPTQS
730	740	750	760	770	780
PWCSQYRRQL	LKSLPELSAS	AELCIEDRPM	PKLEIEKEIE	LGNEDYCIKR	EYLICEDYKL
790	800	810	820	830	840
FWVAPRNSAE	LTVIKVSSQP	VPWDFYINLK	LKERLNEDFD	HFCSCYQYQD	GCIVWHQYIN
850	860	870	880	890	900
CFTLQDLLQH	SEYITHEITV	LIIYNLLTIV	EMLHKAEIVH	GDLSPRCLIL	RNRIHDPYDC
910	920	930	940	950	960
NKNNQALKIV	DFSYSVDLRV	QLDVFTLSGF	RTVQILEGQK	ILANCSSPYQ	VDLFGIADLA
970	980	990	1000	1010	1020
HLLLFKEHLQ	VFWDGSFWKL	SQNISELKDG	ELWNKFFVRI	LNANDEATVS	VLGELAAEMN
1030	1040
GVFDTTFQSH	LNKALWKVGK	LTSPGALLFQ