AiPD: Autoinhibited Protein Database

Q04721

Gene name	NOTCH2
Protein name	Neurogenic locus notch homolog protein 2
Names	Notch 2, hN2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4853
EC number
Protein Class	NOTCH LIGAND FAMILY MEMBER (PTHR24044)

Descriptions

NOTCH2 is a neurogenic locus notch homolog protein 2 and belongs to the NOTCH family of proteins that regulate cell growth, proliferation, differentiation and apoptosis in both embryonic and adult tissues. The negative regulatory region (NRR) of NOTCH2 contains three Lin12/Notch repeats (LNR-A, LNR-B, and LNR-C). The LNR-C hydrophobic residues pack against the heterodimerization (HD) domain core. In addition, the LNR-B, the linker between LNR-A and LNR-B, and the C-terminus of LNR-A wrap around the HD domain, thus masking the metalloprotease site (S2) and preventing exposure to receptor activation. For the activation of NOTCH2, the LNR-A, LNR-AB linker, and LNR-B must be removed.

Autoinhibitory domains (AIDs)

Target domain	1539-1677 (HD domain)
Relief mechanism	Cleavage
Assay	Structural analysis, Deletion assay

AID

1425-1544 (LNR-A, B, and C)

Target domain

1539-1677 (HD domain)

Relief mechanism

Cleavage (Juxtamembrane cleavage by ADAM-type metalloproteases at site S2)

Assay

Structural analysis, Deletion assay

Accessory elements

No accessory elements

References

Gordon WR et al. (2007) "Structural basis for autoinhibition of Notch", Nature structural & molecular biology, 14, 295-300

Autoinhibited structure

Activated structure

3 structures for Q04721

Entry ID	Method	Resolution	Chain	Position	Source
2OO4	X-ray	200 A	A/B	1423-1677	PDB
5MWB	X-ray	186 A	A	414-532	PDB
AF-Q04721-F1	Predicted				AlphaFoldDB

1637 variants for Q04721

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA249100 rs782113557 RCV001731435 RCV001640305 COSM1127444 RCV000202905	3	A>S	ovary Alagille syndrome due to a NOTCH2 point mutation prostate [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000986405 COSM132738 RCV001700685 rs11810554 CA1041044	19	C>W	Hajdu-Cheney syndrome thyroid central_nervous_system urinary_tract [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001312091 rs1174406807 RCV000986404 CA341849570	29	R>*	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs61788900 RCV000986403 CA1040934 RCV001819693 COSM3773408	46	N>S	kidney Hajdu-Cheney syndrome thyroid [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs143195893 RCV001702759 CA1040896 RCV000986402 RCV001573081	91	R>L	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781850215 CA1040788 RCV001329962	229	P>H	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001336626 rs1464974590 CA341848155	240	G>A	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001270720 CA341887540 rs1557834060	279	V>G	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM3399614 CA1040640 RCV000368673 rs144936899 RCV000552666	319	N>S	Hajdu-Cheney syndrome central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001867947 CA1040595 rs370349228 RCV000597924	410	A>S	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000705631 RCV000735149 CA341878648 rs1557825800	427	C>Y	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000592374 RCV000539468 rs199565938 CA1040561	439	A>T	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_029361 RCV000009811 rs111033632 CA340897	444	C>Y	Alagille syndrome 2 (algs2) Alagille syndrome due to a NOTCH2 point mutation ALGS2 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000595171 rs140311741 RCV000693115 CA1040450	602	A>T	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM322072 rs1553198769 RCV000625914 CA341869591	653	P>T	lung Hajdu-Cheney syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV002055372 RCV000121711 RCV001723687 rs74882029 CA161249	681	I>N	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001855630 rs1230128244 RCV000730137 CA341864103	775	L>V	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1650362306 RCV001336624	863	P>S	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinVar dbSNP
RCV000596284 rs782269360 RCV001854114 CA1040235	869	R>Q	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs201100122 RCV000732627 CA1040195 RCV002067136	939	P>L	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1040193 RCV001860215 RCV000593731 rs372549390	942	T>A	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002060979 rs151130105 CA1040192 RCV000729664	944	D>Y	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs992092842 RCV000805260 CA30283368	982	V>A	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000728449 RCV001862148 CA1040155 rs782036233	1005	G>E	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000725834 RCV000121715 CA161257 RCV000764962 rs146014987	1069	R>Q	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1649920831 RCV001329957	1070	S>P	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000597289 CA1040115 rs368918146 RCV002062034	1079	V>I	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1040055 RCV000530990 rs142876168	1160	H>R	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1040024 rs377058108 RCV000732629 RCV001254707	1186	Y>N	VATER association [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs587641573 RCV000638605 CA1040015	1218	R>W	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000951756 rs138832326 CA1039970 RCV002066289	1251	R>H	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA161269 rs75423398 RCV000560426 RCV000121721	1260	R>H	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs587688280 CA1039942 RCV002068718 RCV000994086	1305	V>I	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs116408209 CA1039941 RCV000733846 RCV001855791	1306	D>N	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA161271 rs61752484 RCV000121722 RCV000532049	1327	D>G	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA161273 RCV001854666 rs587609362 RCV000121723	1332	R>H	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1649449471 RCV001048880	1392	Q>*	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001854071 rs760072707 RCV000591327 CA1039900	1393	R>C	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001855203 CA1039889 RCV000300338 rs758275919	1415	T>M	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs145336945 RCV000732036 CA1039879 RCV001868971	1432	D>N	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000728202 CA341888981 rs1241715192 RCV000638603	1547	L>V	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1396873392 RCV001002778 CA341888965	1549	I>M	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1039816 RCV000279286 RCV001859725 rs552225415	1567	R>W	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000556572 CA1039771 RCV000268720 rs116321057	1633	V>I	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002059235 RCV001610785 CA1039752 VAR_031463 RCV000364935 rs17024517	1667	V>F	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000121727 CA161281 RCV000537316 rs17024517 COSM329068	1667	V>I	lung Hajdu-Cheney syndrome haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA341887185 RCV001329958 rs1345166838	1677	Q>H	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA161283 rs60854092 RCV000638608 COSM146592 RCV000121728	1689	I>F	Hajdu-Cheney syndrome stomach [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1039723 rs143134864 RCV002067097 RCV000729663	1692	I>V	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA341886958 RCV001863079 rs999822357 RCV001270188	1702	R>Q	Hajdu-Cheney syndrome Premature ovarian failure [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001329959 rs1649314295	1708	S>*	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000593654 rs761415665 CA1039716 RCV002065169	1708	S>F	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001029862 rs1570660922 CA341886869	1711	L>P	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000591946 CA1039710 rs587737953 RCV001867976	1719	R>Q	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001868985 RCV000733343 CA341886729 rs1557804884	1726	R>H	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000691348 rs747138507 COSM202452 RCV000404846 CA1039686	1740	L>I	Hajdu-Cheney syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1570660422 CA341886532 RCV000845110	1741	S>L	Alagille syndrome 2 (algs2) Alagille syndrome due to a NOTCH2 point mutation [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001197498 rs1649240420	1776	L>S	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinVar dbSNP
RCV000549641 rs1553193977	1782	D>missing	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000735810 rs1557804111 CA341885445	1811	Q>*	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA341884407 RCV000845111 rs1570658378	1882	H>Y	Alagille syndrome 2 (algs2) Alagille syndrome due to a NOTCH2 point mutation [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1039585 COSM1560049 rs201996575 RCV001224894	1895	R>H	Hajdu-Cheney syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000594552 RCV001329960 rs1216790064 CA341883996	1911	R>H	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000594828 RCV001867946 rs373667418 CA1039556	1939	A>S	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341882050 RCV000638602 rs1553193747	1982	H>R	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000177810 rs201446896 RCV001852200 CA244739	2019	R>Q	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341881120 rs1283460236 RCV000622919	2027	K>E	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000526120 CA1039493 RCV000318452 COSM1581340 rs143236410	2032	H>N	Hajdu-Cheney syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1039489 rs756949183 RCV001867998 RCV000594788	2035	N>S	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000404224 rs748876258 CA1039488 RCV000699611	2040	D>N	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001310089 rs1649084282	2042	M>T	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinVar dbSNP
RCV001868932 rs140353589 RCV000728453 CA1039483	2047	R>G	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002067141 rs371060516 CA1039482 RCV000733080	2047	R>Q	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001862425 RCV001573697 CA1039469 rs746551843 RCV001029870	2060	R>C	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000022957 rs1557802353	2091	F>missing	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000731300 rs779311707 RCV002067116 CA1039448	2103	S>T	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1649072477 RCV001329961	2109	K>E	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinVar dbSNP
RCV000301106 RCV001859732 RCV001820842 CA1039439 rs144047610	2121	K>N	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002059111 rs148393324 CA1039440 RCV000276229	2121	K>R	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1649066485 RCV001223255	2143	E>missing	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000551029 rs1553193574	2150	P>missing	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000786872 rs1570655570	2153	S>*	Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinVar dbSNP
rs35216058 CA1039421 RCV002059213 RCV000385522	2160	Y>C	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000692450 rs1557802165	2168	P>missing	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
rs748538625 RCV001855751 RCV000730891 CA1039409	2183	M>V	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000730285 RCV001855748 rs139052054 CA1039404	2188	A>T	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000022959 CA128895 rs387906746	2208	Q>*	Hajdu-Cheney syndrome Hajdu-cheney syndrome (hjcys) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1557802029 RCV001239699 CA341876657 RCV000729986	2229	H>Y	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA244745 rs147522485 RCV002054103 RCV000177813	2256	R>C	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001254708 rs148759277 CA1039380 RCV000591307 RCV001336625	2256	R>H	Hajdu-Cheney syndrome Congenital anomaly of kidney and urinary tract [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001867974 rs145628676 CA1039375 RCV000594050	2270	M>V	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1553193507 COSM329072 CA341875301 RCV000656524	2285	Q>*	Hajdu-Cheney syndrome haematopoietic_and_lymphoid_tissue Hajdu-cheney syndrome (hjcys) [ClinVar, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001253265 rs1649047546	2293	H>missing	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000764961 CA1039360 RCV000405161 RCV002061146 rs140832430	2298	R>Q	Hajdu-Cheney syndrome Alagille syndrome due to a NOTCH2 point mutation [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000022962 CA128899 rs387906748	2299	E>*	Hajdu-Cheney syndrome Hajdu-cheney syndrome (hjcys) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000208622 RCV000638604 rs771237928	2304	I>missing	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
rs771237928 RCV000761596	2304	I>missing	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
CA341874783 rs1557801809 RCV000695291	2306	T>S	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000788016 rs1570654979	2307	F>missing	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000022961 rs387906747 CA128897	2317	Q>*	Hajdu-Cheney syndrome Hajdu-cheney syndrome (hjcys) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000638606 CA244743 RCV000177812 rs373527990	2319	A>V	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001862138 rs1278379367 CA341874382 RCV000728188	2329	P>S	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1039340 RCV000592565 RCV000527149 rs143506822	2333	A>P	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000121733 RCV000638607 rs75831573 CA161293 RCV001529891	2359	P>A	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM674043 RCV000617018 rs1553193485 CA341873665	2360	Q>*	Hajdu-Cheney syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001250418 rs1649037695	2364	Q>missing	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinVar dbSNP
CA341873309 rs1557801639 RCV000022960	2373	Y>*	Hajdu-Cheney syndrome Hajdu-cheney syndrome (hjcys) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000022963 rs387906749 CA128901	2389	Q>*	Hajdu-Cheney syndrome Hajdu-cheney syndrome (hjcys) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001854667 CA161295 rs143197714 RCV000121734	2397	A>G	Hajdu-Cheney syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM36210 rs1325403451 RCV000617014 CA341872777	2400	R>*	Hajdu-Cheney syndrome NS large_intestine haematopoietic_and_lymphoid_tissue breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV000540032 RCV000508681 rs35586704 RCV000121737 CA161301	2408	L>H	Hajdu-Cheney syndrome Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1336639565 CA341853366	2	P>L		No	ClinGen TOPMed gnomAD
CA1041067 rs782173854	2	P>S		No	ClinGen ExAC gnomAD
CA341853365 rs782113557	3	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM246074 CA1041064 rs200646249	3	A>V	lung ovary NS oesophagus urinary_tract prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1553217948 CA341853350	4	L>P		No	ClinGen gnomAD
CA1041061 rs781919354	5	R>C		No	ClinGen ExAC gnomAD
CA341853344 rs781919354	5	R>G		No	ClinGen ExAC gnomAD
CA341853342 rs1234964366	5	R>H		No	ClinGen TOPMed gnomAD
rs1234964366 CA341853338	5	R>L		No	ClinGen TOPMed gnomAD
rs372504208 RCV000202675	6	P>missing		No	ClinVar dbSNP
rs781993162 CA341853335	6	P>A		No	ClinGen ExAC TOPMed gnomAD
CA341853332 rs782374128	6	P>L		No	ClinGen ExAC gnomAD
CA1041058 rs782374128	6	P>R		No	ClinGen ExAC gnomAD
rs781993162 CA1041059	6	P>S		No	ClinGen ExAC TOPMed gnomAD
RCV000722944 rs372504208	7	A>missing		No	ClinVar dbSNP
rs1553217938 CA341853320	7	A>G		No	ClinGen gnomAD
rs1553217934 CA341853312	9	L>M		No	ClinGen gnomAD
CA1041056 rs782598895	10	W>*		No	ClinGen ExAC gnomAD
rs1553217930 CA341853306	10	W>R		No	ClinGen gnomAD
CA341853296 rs782442735	11	A>E		No	ClinGen ExAC TOPMed gnomAD
CA341853297 rs1231551231	11	A>S		No	ClinGen TOPMed gnomAD
CA341853299 rs1231551231	11	A>T		No	ClinGen TOPMed gnomAD
CA1041055 rs782442735	11	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1553217927 CA341853293	12	L>V		No	ClinGen gnomAD
CA1041050 rs587662181	14	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1041052 rs587662181	14	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1041051 rs587662181	14	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1570805519 CA341853279	15	L>F		No	ClinGen Ensembl
CA341853269 rs1553217922	16	W>*		No	ClinGen gnomAD
CA341853272 rs1553217924	16	W>*		No	ClinGen gnomAD
CA341853266 rs1553217920	17	L>M		No	ClinGen gnomAD
rs1553217920 CA341853265	17	L>V		No	ClinGen gnomAD
rs1553217919 CA341853261	18	C>R		No	ClinGen gnomAD
rs782697240 CA1041047	18	C>W		No	ClinGen ExAC TOPMed gnomAD
CA1041048 rs781804379	18	C>Y		No	ClinGen ExAC gnomAD
rs782166299 CA1041046	19	C>F		No	ClinGen ExAC gnomAD
CA341853245 rs1302570383	20	A>E		No	ClinGen TOPMed gnomAD
CA341853248 rs1553217914	20	A>P		No	ClinGen gnomAD
rs1302570383 CA341853246	20	A>V		No	ClinGen TOPMed gnomAD
CA341853241 rs782179651	21	A>G		No	ClinGen ExAC TOPMed gnomAD
rs2603926 CA1041042	21	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1600651 rs2603926 CA1041041	21	A>T	thyroid liver urinary_tract breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1041040 rs782179651	21	A>V		No	ClinGen ExAC TOPMed gnomAD
rs868921483 CA341853239	22	P>A		No	ClinGen TOPMed gnomAD
rs782038396 CA1041039	22	P>H		No	ClinGen ExAC TOPMed gnomAD
rs782038396 CA341853236	22	P>L		No	ClinGen ExAC TOPMed gnomAD
rs868921483 CA341853238	22	P>S		No	ClinGen TOPMed gnomAD
CA341853233 rs782502909	23	A>E		No	ClinGen ExAC gnomAD
rs782643034 CA1041036	23	A>S		No	ClinGen ExAC
CA1041035 rs782502909	23	A>V		No	ClinGen ExAC gnomAD
rs1553217903 CA341853224	24	H>Q		No	ClinGen gnomAD
rs1553217905 CA341853227	24	H>R		No	ClinGen gnomAD
rs1553210734 CA341849597	25	A>E		No	ClinGen gnomAD
rs782589993 CA1041033	25	A>P		No	ClinGen ExAC gnomAD
CA341853223 rs782589993	25	A>T		No	ClinGen ExAC gnomAD
CA341849585 rs1553210729	27	Q>*		No	ClinGen gnomAD
rs1553210725 CA341849563	30	D>G		No	ClinGen gnomAD
rs782447884 CA1040940	32	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1553210721 CA341849534	34	P>H		No	ClinGen gnomAD
CA341849533 rs1553210721	34	P>R		No	ClinGen gnomAD
rs1553210720 CA341849526	35	C>*		No	ClinGen gnomAD
rs781887969 CA1040939	35	C>R		No	ClinGen ExAC
CA341849517 rs1553210719	37	N>D		No	ClinGen gnomAD
rs782653854 CA1040938	37	N>S		No	ClinGen ExAC gnomAD
rs587603038 CA30286442	38	E>G		No	ClinGen 1000Genomes
rs61788901 CA1040937 COSM1736165	38	E>K	thyroid central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1553210717 CA341849502	39	G>E		No	ClinGen gnomAD
CA341849498 rs1311357227	40	M>V		No	ClinGen TOPMed gnomAD
rs1553210714 CA341849487	41	C>Y		No	ClinGen gnomAD
rs782736063 CA1040935	42	V>I		No	ClinGen ExAC gnomAD
CA341849458 rs1410246337	45	H>L		No	ClinGen TOPMed gnomAD
CA341849461 rs879972657	45	H>N		No	ClinGen Ensembl
rs1410246337 CA341849460	45	H>P		No	ClinGen TOPMed gnomAD
rs1553210709 CA341849455	46	N>H		No	ClinGen gnomAD
CA341849451 rs61788900	46	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1553210707 CA341849447	47	G>S		No	ClinGen gnomAD
rs1553210706 CA341849442	48	T>A		No	ClinGen gnomAD
rs1553210705 CA341849419	51	C>Y		No	ClinGen gnomAD
CA1040919 rs782474556	54	P>A		No	ClinGen ExAC TOPMed gnomAD
rs781815362 CA1040918	54	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782568319 CA1040916	56	G>A		No	ClinGen ExAC gnomAD
CA341849370 rs782568319	56	G>D		No	ClinGen ExAC gnomAD
rs782787639 CA1040914	58	L>S		No	ClinGen ExAC gnomAD
rs1553206175 CA341849349	60	E>K		No	ClinGen gnomAD
rs1280158106 CA341849308	65	R>*		No	ClinGen TOPMed gnomAD
rs1280158106 CA341849309	65	R>G		No	ClinGen TOPMed gnomAD
CA341849306 rs377214276	65	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs377214276 CA1040911	65	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs782066986 CA1040910	66	D>A		No	ClinGen ExAC TOPMed gnomAD
CA341849300 rs1483822331	66	D>E		No	ClinGen TOPMed gnomAD
CA1040909 rs781921948	67	P>H		No	ClinGen ExAC gnomAD
CA1040908 rs782412559	68	C>Y		No	ClinGen ExAC gnomAD
rs782131599 CA1040905	72	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201838650 CA1040904 RCV000435654	72	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782131599 CA341849262	72	R>S		No	ClinGen ExAC TOPMed gnomAD
rs782359787 CA1040903	74	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1373951384 CA341849234	76	G>S		No	ClinGen TOPMed
CA341849230 rs1431793217	76	G>V		No	ClinGen TOPMed
CA341849203 rs1308427063	81	A>T		No	ClinGen TOPMed
rs1553206159 CA341849198	81	A>V		No	ClinGen gnomAD
rs782209743 CA1040902	83	A>S		No	ClinGen ExAC gnomAD
rs1439968793 CA341849179	84	M>I		No	ClinGen TOPMed gnomAD
CA341849181 rs1353659503	84	M>T		No	ClinGen TOPMed
CA1040901 rs587750639	84	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA341849174 rs1557843126	85	L>Q		No	ClinGen Ensembl
CA341849168 rs1553206150	86	G>E		No	ClinGen gnomAD
CA341849153 rs1553206149	88	A>D		No	ClinGen gnomAD
rs138537504 CA1040900	89	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1232996741 CA341849145	90	C>R		No	ClinGen TOPMed
CA1040897 rs143195893	91	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368671802 CA30280951	93	A>V		No	ClinGen ESP TOPMed
rs782475359 CA341849113	95	G>A		No	ClinGen ExAC TOPMed gnomAD
rs782475359 CA1040894	95	G>E		No	ClinGen ExAC TOPMed gnomAD
rs782699704 CA1040892	97	T>I		No	ClinGen ExAC gnomAD
CA341849089 rs1553206136	99	E>A		No	ClinGen gnomAD
CA341849085 rs797037146	99	E>D		No	ClinGen Ensembl
rs1570738713 CA341849081	100	D>A		No	ClinGen Ensembl
CA341849062 rs1202841553	102	Q>H		No	ClinGen TOPMed gnomAD
rs1249027711 CA341849047	104	S>L		No	ClinGen TOPMed
rs781888750 CA1040890	105	T>A		No	ClinGen ExAC gnomAD
rs782779578 CA1040889	106	S>P		No	ClinGen ExAC TOPMed gnomAD
rs782779578 CA341849041	106	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1040887 rs781955440	107	H>Q		No	ClinGen ExAC gnomAD
rs782099288 CA1040888	107	H>R		No	ClinGen ExAC gnomAD
CA1040886 COSM146593 rs782708165	111	V>G	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA341849007 rs1451591017	111	V>L		No	ClinGen TOPMed
rs1419033534 CA341849001	112	S>P		No	ClinGen TOPMed gnomAD
CA1040885 COSM1667036 rs782059779	113	R>*	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs140965343 CA1040884	113	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140965343 CA1040883	113	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1553206118 CA341848993	114	P>S		No	ClinGen gnomAD
rs1553206118 CA341848995	114	P>T		No	ClinGen gnomAD
rs202006727 CA1040881	119	G>S		No	ClinGen ExAC gnomAD
CA1040880 RCV000297627 rs148915663	120	T>P		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs782587994 CA1040878	122	H>R		No	ClinGen ExAC gnomAD
rs782430992 CA1040877	123	M>V		No	ClinGen ExAC gnomAD
rs1228719884 CA341848915	126	R>G		No	ClinGen TOPMed gnomAD
CA1040875 rs141031381	126	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA341848914 rs1228719884	126	R>W		No	ClinGen TOPMed gnomAD
rs1337027514 CA341848906	127	D>V		No	ClinGen TOPMed
rs1213248239 CA341848902	128	T>A		No	ClinGen TOPMed
CA1040873 rs781845893	130	E>K		No	ClinGen ExAC TOPMed
CA341848889 rs781845893	130	E>Q		No	ClinGen ExAC TOPMed
rs1466339102 CA341848857	134	Q>P		No	ClinGen TOPMed
rs782820931 CA1040869	136	G>R		No	ClinGen ExAC gnomAD
rs587717340 CA1040868	138	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1553204372 CA341848813	139	G>D		No	ClinGen gnomAD
RCV000494234 CA341848826 rs1131692007	139	G>R		No	ClinGen ClinVar Ensembl dbSNP
CA341848799 rs1284673575	141	E>A		No	ClinGen TOPMed
rs1553204370 CA341848773	144	W>L		No	ClinGen gnomAD
rs781783704 CA1040845	145	T>A		No	ClinGen ExAC gnomAD
rs150730704 CA1040844	145	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1262991439 CA341848765	146	D>N		No	ClinGen TOPMed
rs782085551 CA1040840	147	A>S		No	ClinGen ExAC TOPMed gnomAD
rs587679668 CA1040839	147	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3801481 rs1553204354 CA341848732	151	H>Y	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1040836 rs782662504	152	P>L		No	ClinGen ExAC TOPMed gnomAD
CA341848724 rs1553204352	152	P>S		No	ClinGen gnomAD
CA341848718 rs1553204344	153	C>Y		No	ClinGen gnomAD
rs1420601708 CA341848707	155	N>D		No	ClinGen TOPMed
CA341848703 rs1553204339	155	N>S		No	ClinGen gnomAD
rs1297792453 CA341848698	156	G>R		No	ClinGen TOPMed
CA1040834 rs782248348	158	T>A		No	ClinGen ExAC gnomAD
CA341848683 rs1382557273	158	T>I		No	ClinGen TOPMed gnomAD
CA341848668 rs1553204333	160	T>I		No	ClinGen gnomAD
CA1040833 rs782610859	160	T>S		No	ClinGen ExAC gnomAD
CA341848666 rs1397599828	161	T>A		No	ClinGen TOPMed
CA1040830 rs782563564	163	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1040829 rs149599753	164	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1040828 rs781884996	165	Q>L		No	ClinGen ExAC
CA341848623 rs1570728612	167	S>F		No	ClinGen Ensembl
rs1445649894 CA341848607	169	K>N		No	ClinGen TOPMed gnomAD
CA341848599 rs1557838546	170	C>*		No	ClinGen Ensembl
CA341848582 rs1310901325	173	G>A		No	ClinGen TOPMed gnomAD
CA1040826 rs782111307	174	F>V		No	ClinGen ExAC TOPMed gnomAD
CA1040825 rs367993523	175	T>I		No	ClinGen ESP ExAC gnomAD
CA1040824 rs367993523	175	T>R		No	ClinGen ESP ExAC gnomAD
rs1346622102 CA341848539	180	E>K		No	ClinGen TOPMed
rs202199981 CA341848522	182	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1040822 rs782038512	182	D>N		No	ClinGen ExAC gnomAD
rs202199981 CA1040821	182	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA341848519 rs1240154434	183	V>I		No	ClinGen TOPMed
rs782131953 CA1040820	184	N>D		No	ClinGen ExAC gnomAD
CA1040819 rs781992690	184	N>S		No	ClinGen ExAC gnomAD
CA1040817 rs782202779	185	E>D		No	ClinGen ExAC gnomAD
CA1040818 rs782360392	185	E>K		No	ClinGen ExAC gnomAD
CA341848482 rs1570728515	188	I>T		No	ClinGen Ensembl
rs781929466 CA1040816	188	I>V		No	ClinGen ExAC TOPMed gnomAD
CA16040212 rs782291604	193	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs782663891 CA1040813	194	H>L		No	ClinGen ExAC gnomAD
rs782525496 CA1040812	195	G>D		No	ClinGen ExAC gnomAD
rs782240318 CA1040811	196	G>A		No	ClinGen ExAC gnomAD
rs782240318 CA341848428	196	G>D		No	ClinGen ExAC gnomAD
CA30279167 rs71246345	197	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1040809 rs71246345	197	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs782623812 CA1040810	197	T>P		No	ClinGen ExAC gnomAD
rs781791053 CA1040808	199	L>H		No	ClinGen ExAC
CA1040806 rs782542739	200	N>S		No	ClinGen ExAC gnomAD
rs782542739 CA341848408	200	N>T		No	ClinGen ExAC gnomAD
CA1040805 rs781880466	202	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1040804 rs782771860	204	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1570728420 CA341848380	205	Y>S		No	ClinGen Ensembl
rs2258139 CA30279144	210	P>L		No	ClinGen 1000Genomes gnomAD
CA1040803 rs782104167	211	Q>R		No	ClinGen ExAC gnomAD
rs782720331 CA1040801	213	F>L		No	ClinGen ExAC TOPMed gnomAD
CA341848313 rs1553204303	214	T>I		No	ClinGen gnomAD
CA1040800 rs782041712	215	G>D		No	ClinGen ExAC gnomAD
CA1040799 rs368370542	216	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1040797 rs782259948	219	D>G		No	ClinGen ExAC TOPMed gnomAD
COSM1667037 rs112650847 CA1040795 RCV000514044	220	S>R	skin [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA1040792 rs782566552	222	Y>C		No	ClinGen ExAC gnomAD
rs1553204301 CA341848263	222	Y>D		No	ClinGen gnomAD
rs1553204299 CA341848233	226	A>V		No	ClinGen gnomAD
rs3899528 CA1040790 COSM3740582	227	P>H	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD
rs375605753 CA1040786	232	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138796691 CA1040784	235	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138796691 CA1040783	235	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200464440 CA1040785 COSM423616	235	T>S	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1040781 rs782758556	236	C>S		No	ClinGen ExAC gnomAD
CA1040779 rs146498360	237	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1040780 rs782100759 COSM1747679	237	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs370351152 CA1040778	239	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA16040214 rs370351152	239	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs782021856 CA1040776	240	G>S		No	ClinGen ExAC TOPMed gnomAD
rs782392392 CA1040775	241	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1553204283 CA341848140	242	F>L		No	ClinGen gnomAD
CA341848127 rs1387039443	244	F>L		No	ClinGen TOPMed
rs782251525 CA1040774	244	F>S		No	ClinGen ExAC TOPMed gnomAD
CA341848111 rs1300124063	246	C>*		No	ClinGen TOPMed gnomAD
rs868973073 CA341848082	250	P>L		No	ClinGen TOPMed
rs1553202314 CA341887825 RCV000728755	254	G>W		No	ClinGen ClinVar dbSNP gnomAD
rs782348393 CA1040672	256	T>A		No	ClinGen ExAC TOPMed gnomAD
RCV000722846 CA341887740 rs1202374604	261	I>S		No	ClinGen ClinVar TOPMed dbSNP
rs781933141 CA1040670	261	I>V		No	ClinGen ExAC gnomAD
rs1267139815 CA341887732	262	D>A		No	ClinGen TOPMed
rs868955100 CA341887738	262	D>N		No	ClinGen Ensembl
CA341887693 rs1553202303	265	P>R		No	ClinGen gnomAD
RCV000498302 CA341887667 rs1553202301	267	H>Q		No	ClinGen ClinVar Ensembl dbSNP
rs1553202302 CA341887674	267	H>Y		No	ClinGen gnomAD
rs1557834076 RCV000731579 CA341887617	272	G>E		No	ClinGen ClinVar Ensembl dbSNP
rs1553202300 CA341887603	274	V>I		No	ClinGen gnomAD
rs1007641648 CA30314056	276	V>L		No	ClinGen Ensembl
CA341887542 rs1557834060	279	V>A		No	ClinGen Ensembl
CA341887547 rs1553202295	279	V>F		No	ClinGen gnomAD
rs1557834055 CA525750577	282	Y>*		No	ClinGen Ensembl
rs183106682 CA30314030	283	N>T		No	ClinGen gnomAD
rs142614610 CA1040664	285	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs142614610 CA1040665	285	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs782452794 CA1040663	285	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1040662 rs372964061	287	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1040661 rs782688677	287	P>L		No	ClinGen ExAC gnomAD
CA341887404 rs1553202289	288	P>S		No	ClinGen gnomAD
rs369664394 CA1040652	294	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs782116722 CA1040651	303	L>R		No	ClinGen ExAC gnomAD
CA1040649 rs782336182	307	N>S		No	ClinGen ExAC gnomAD
CA1040647 rs147128314	316	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1040646 rs782417990	316	A>V		No	ClinGen ExAC gnomAD
CA1040644 rs782657864	317	N>D		No	ClinGen ExAC
rs782230202 COSM1333278 CA1040643	318	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA341883149 rs782230202	318	R>G		No	ClinGen ExAC TOPMed gnomAD
CA341883143 rs782615247	318	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1040641 rs782615247	318	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1040642 rs782230202	318	R>S		No	ClinGen ExAC TOPMed gnomAD
CA341883134 rs1429459684	319	N>K		No	ClinGen TOPMed
RCV000729961 rs1557826779 CA341883116	322	Y>C		No	ClinGen ClinVar Ensembl dbSNP
rs190115855 CA30305957	324	C>W		No	ClinGen Ensembl
rs1553200141 CA341883056	325	V>I		No	ClinGen gnomAD
COSM1560046 CA1040636 rs781858266	331	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1570702041 CA341882911	331	S>R		No	ClinGen Ensembl
CA1040635 rs782747038	333	D>V		No	ClinGen ExAC gnomAD
CA341882841 RCV000732147 rs1557826752	335	C>R		No	ClinGen ClinVar Ensembl dbSNP
rs782081694 CA1040634	336	S>G		No	ClinGen ExAC gnomAD
rs1350230048 CA341882745	339	I>T		No	ClinGen TOPMed gnomAD
COSM343268 CA341882762 rs1309062791	339	I>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1557826735 RCV000734936 CA341882726	340	D>G		No	ClinGen ClinVar Ensembl dbSNP
rs1553200134 RCV000592471	341	D>missing		No	ClinVar dbSNP
CA1040633 rs781931665	343	A>P		No	ClinGen ExAC gnomAD
CA1040631 rs782154624	345	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1557826721 RCV000733805	346	S>*		No	ClinVar dbSNP
CA1040629 rs782384872	349	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM894753 CA1040627 rs781979575	355	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782349821 RCV000731174 CA1040626	356	R>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA30305879 rs782758990	356	R>H		No	ClinGen TOPMed gnomAD
rs1553200130 CA341882332	357	V>L		No	ClinGen gnomAD
rs1309523497 CA341882307	358	A>S		No	ClinGen TOPMed
rs1570701950 RCV000994087	360	F>missing		No	ClinVar dbSNP
rs1553200129 CA341882249	361	S>F		No	ClinGen gnomAD
rs782563751 CA1040624	363	M>L		No	ClinGen ExAC gnomAD
rs1553200125 CA341882155	366	E>D		No	ClinGen gnomAD
CA341882083 rs1553200124	369	A>V		No	ClinGen gnomAD
rs312262793 CA344276	373	C>R		No	ClinGen Ensembl
CA341881710 rs1370519910	378	A>T		No	ClinGen TOPMed gnomAD
rs1368385010 CA341881643	380	I>S		No	ClinGen TOPMed
rs374689991 CA1040601	380	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1040024518 CA30305012	381	S>T		No	ClinGen Ensembl
CA341881580 rs782540275	382	N>I		No	ClinGen ExAC TOPMed gnomAD
CA1040600 rs782540275	382	N>S		No	ClinGen ExAC TOPMed gnomAD
rs312262795 CA344278	383	P>S		No	ClinGen Ensembl
CA341881460 rs1299476899	386	K>R		No	ClinGen TOPMed
rs1273608383 CA341881403	388	A>T		No	ClinGen TOPMed
CA344280 rs312262794	394	P>S		No	ClinGen Ensembl
CA341881034 rs1553199932	399	Y>C		No	ClinGen Ensembl
CA341880751 rs1487875537	408	K>R		No	ClinGen TOPMed gnomAD
rs1553199926 CA341880709	410	A>G		No	ClinGen TOPMed
CA341880725 rs370349228	410	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1738300 rs910465115 CA30304961	414	E>D	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
rs782797463 CA1040592	417	D>N		No	ClinGen ExAC gnomAD
CA1040590 rs781984803	421	M>V		No	ClinGen ExAC gnomAD
rs1394733490 CA341878743	424	S>G		No	ClinGen TOPMed
CA1040568 rs782688032	424	S>N		No	ClinGen ExAC gnomAD
rs371046188 CA1040567	425	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1553199841 CA341878437	434	V>M		No	ClinGen gnomAD
CA341878401 rs1296386834	436	T>M		No	ClinGen TOPMed gnomAD
rs781957465 CA1040563	438	G>A		No	ClinGen ExAC gnomAD
RCV000518945 CA341878345 rs781957465 COSM3399612	438	G>D	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs1553199835 CA341878328	439	A>V		No	ClinGen gnomAD
CA341878276 rs1553199832	443	E>K		No	ClinGen gnomAD
CA30304438 COSM1172017 rs587595062	452	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1040559 rs587595062	452	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341877994 rs1553199824	455	M>T		No	ClinGen Ensembl
CA341878001 rs1227068559	455	M>V		No	ClinGen TOPMed gnomAD
rs1553199820 CA341877909	458	N>H		No	ClinGen gnomAD
rs782653733 CA341877818	463	D>A		No	ClinGen ExAC gnomAD
rs782653733 CA1040557	463	D>G		No	ClinGen ExAC gnomAD
rs1553199818 CA341877821	463	D>Y		No	ClinGen gnomAD
rs141935585 RCV000121718 CA161263	466	Q>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1210547912 CA341877774	466	Q>R		No	ClinGen TOPMed
rs782233786 CA1040556	467	N>D		No	ClinGen ExAC gnomAD
rs782574657 CA341877746	468	D>G		No	ClinGen ExAC gnomAD
CA1040555 rs782574657	468	D>V		No	ClinGen ExAC gnomAD
rs1252425034 CA341877712	470	T>I		No	ClinGen TOPMed
CA1040554 rs782449791	474	K>E		No	ClinGen ExAC gnomAD
CA341877643 rs1553199814	474	K>R		No	ClinGen gnomAD
CA344282 rs312262799	480	C>R		No	ClinGen Ensembl
rs1553199813 CA341877461	484	P>A		No	ClinGen gnomAD
CA1040537 rs782687097	485	G>D		No	ClinGen ExAC gnomAD
rs890700085 CA30303835	486	F>S		No	ClinGen Ensembl
CA341877055 RCV000728105 rs1553199690	489	V>L		No	ClinGen ClinVar dbSNP gnomAD
CA1040536 rs782400695	490	H>R		No	ClinGen ExAC gnomAD
CA341876844 rs1553199687	493	L>S		No	ClinGen gnomAD
CA341876594 rs1553199685	501	N>H		No	ClinGen gnomAD
CA161265 rs73004269 RCV000121719	506	N>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs73004269 CA341876435	506	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782621960 CA1040535	511	D>G		No	ClinGen ExAC TOPMed gnomAD
CA341876217 rs34308573	514	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34308573 RCV000344195 RCV001651308 CA1040532	514	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1040531 rs782444829	515	R>C		No	ClinGen ExAC TOPMed gnomAD
RCV000730218 CA341876203 rs782444829	515	R>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs781906256 CA1040530	515	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782444829 CA341876207	515	R>S		No	ClinGen ExAC TOPMed gnomAD
rs201925674 CA1040524	521	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1040525 rs587640013	521	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA341875998 rs1553199673	522	P>R		No	ClinGen gnomAD
rs782377781 CA1040495	531	I>T		No	ClinGen ExAC gnomAD
CA341875563 rs1333445187	531	I>V		No	ClinGen TOPMed gnomAD
rs1226120162 CA341875476	533	I>V		No	ClinGen TOPMed gnomAD
CA341875390 rs1449223049 COSM202459	535	D>E	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs782611145 CA1040493	539	T>I		No	ClinGen ExAC
rs1557824894 CA341875298	540	P>L		No	ClinGen Ensembl
RCV000731659 rs1557824882 CA341875262	542	L>R		No	ClinGen ClinVar Ensembl dbSNP
CA341875156 rs1553199556	548	I>V		No	ClinGen gnomAD
rs782673217 CA1040489	550	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA30303294 rs200124607	553	G>S		No	ClinGen 1000Genomes
CA341874969 rs1475043862 RCV000658523	555	E>K		No	ClinGen ClinVar TOPMed dbSNP
CA341874966 rs1475043862	555	E>Q		No	ClinGen TOPMed
CA341874569 rs1167892534	561	G>A		No	ClinGen TOPMed
rs1553199320 CA341874510	563	T>A		No	ClinGen gnomAD
CA1040463 rs782790871	563	T>N		No	ClinGen ExAC TOPMed gnomAD
rs782790871 CA341874503	563	T>S		No	ClinGen ExAC TOPMed gnomAD
CA1040461 rs376783592 COSM1472480	566	L>F	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
COSM894749 rs1553199318 CA341874421	566	L>S	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA341874217 rs1164367887	571	I>V		No	ClinGen TOPMed
rs1553199314 CA341873965	578	P>L		No	ClinGen gnomAD
rs1403956619 CA341873771	585	Q>E		No	ClinGen TOPMed
rs782192003 CA1040459	591	Y>H		No	ClinGen ExAC gnomAD
rs782709024 CA341873462	596	N>I		No	ClinGen ExAC TOPMed gnomAD
rs782709024 CA1040457	596	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1276350746 CA341873416	597	P>L		No	ClinGen TOPMed
CA1040456 rs782142056	597	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1245363965 CA341873404	598	G>W		No	ClinGen TOPMed
CA1040452 rs781948161	600	M>I		No	ClinGen ExAC
rs782098926 CA1040453	600	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1354243950 CA341873263	601	G>D		No	ClinGen TOPMed
rs1553199299 CA341873025	608	I>T		No	ClinGen gnomAD
CA1040448 rs782423623	608	I>V		No	ClinGen ExAC
RCV000593425 CA658795508 rs1553199298	612	Y>*		No	ClinGen ClinVar Ensembl dbSNP
CA341872886 rs1191107268	613	S>G		No	ClinGen TOPMed gnomAD
CA1040446 rs782651058	615	P>R		No	ClinGen ExAC gnomAD
rs782261541 CA1040447	615	P>S		No	ClinGen ExAC gnomAD
RCV000593042 rs1553199297 CA341871712	616	C>F		No	ClinGen ClinVar Ensembl dbSNP
RCV000729175 rs1557824123 CA341871657	619	D>G		No	ClinGen ClinVar Ensembl dbSNP
CA1040445 rs782493871	619	D>N		No	ClinGen ExAC gnomAD
CA341871592 rs1553199295	620	G>V		No	ClinGen gnomAD
rs781827529 CA1040444 RCV000597617	621	R>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1553199293 CA341871569	621	R>H		No	ClinGen gnomAD
rs782590807 CA1040443	623	I>V		No	ClinGen ExAC TOPMed gnomAD
CA341871467 rs1570696995	624	D>A		No	ClinGen Ensembl
COSM3934035 CA1040442 rs782440494	627	N>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA341871297 rs1553199292	629	Y>*		No	ClinGen gnomAD
rs781888909 CA1040441	630	Q>H		No	ClinGen ExAC gnomAD
rs1553199291 CA341871253	632	N>S		No	ClinGen gnomAD
rs782113095 CA1040439	637	T>M		No	ClinGen ExAC gnomAD
CA1040420 rs782463006	640	V>F		No	ClinGen ExAC TOPMed gnomAD
CA341869968 rs782463006	640	V>I		No	ClinGen ExAC TOPMed gnomAD
CA30295890 rs993565793	643	E>K		No	ClinGen TOPMed gnomAD
rs965709104 CA30295887	647	D>N		No	ClinGen Ensembl
rs1553198773 CA341869680	650	A>S		No	ClinGen gnomAD
CA341869609 rs1411949035	652	N>S		No	ClinGen TOPMed gnomAD
CA341869592 rs1553198769	653	P>A		No	ClinGen gnomAD
rs1336598946 CA341869590	653	P>H		No	ClinGen TOPMed gnomAD
CA341869588 rs1336598946	653	P>L		No	ClinGen TOPMed gnomAD
rs1359921167 CA341869485	658	I>L		No	ClinGen TOPMed
CA341869432 rs1447605154	660	M>V		No	ClinGen TOPMed
CA341869290 rs1301107418	663	I>F		No	ClinGen TOPMed
CA341869236 rs1352414422	665	R>C		No	ClinGen TOPMed gnomAD
CA341869242 rs1352414422	665	R>G		No	ClinGen TOPMed gnomAD
rs189684879 CA1040416	665	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1040415 rs782784896	669	V>A		No	ClinGen ExAC gnomAD
rs1287640105 CA341869080	670	C>W		No	ClinGen TOPMed
CA341869052 rs1327060517	672	P>S		No	ClinGen TOPMed
CA341868967 rs1553198756	675	T>A		No	ClinGen gnomAD
CA1040393 rs782691331	679	C>W		No	ClinGen ExAC gnomAD
rs183634491 CA1040392	680	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1570689924 CA341867214	681	I>V		No	ClinGen Ensembl
CA341867119 rs1553198267	682	D>G		No	ClinGen gnomAD
CA341867058 rs1353619912	684	D>E		No	ClinGen TOPMed
rs371567728 CA1040389	688	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1040390 rs782098256	688	S>T		No	ClinGen ExAC gnomAD
rs782325711 CA1040388	689	N>S		No	ClinGen ExAC
rs1258121114 CA341866926	690	P>L		No	ClinGen TOPMed
CA1040387 rs782169028	692	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1040386 rs782026650	692	R>H		No	ClinGen ExAC gnomAD
rs782254452 CA341866822	694	G>D		No	ClinGen ExAC TOPMed gnomAD
CA1040384 rs782254452	694	G>V		No	ClinGen ExAC TOPMed gnomAD
rs367734156 CA30293269	696	T>A		No	ClinGen ESP
rs145027507 CA1040383	698	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1040381 rs143227439	700	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143227439 CA1040380	700	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA30293232 rs908720175	700	G>V		No	ClinGen gnomAD
rs1557820445 CA341866653 RCV000728892	701	V>E		No	ClinGen ClinVar Ensembl dbSNP
CA341866658 rs1379549129	701	V>L		No	ClinGen TOPMed
CA1040379 rs782451942	703	G>V		No	ClinGen ExAC gnomAD
CA341866588 rs1553198260	704	F>C		No	ClinGen gnomAD
rs1417773889 CA341866570	705	R>C		No	ClinGen TOPMed gnomAD
rs781902176 CA1040378	705	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1040377 rs782678788	706	C>Y		No	ClinGen ExAC
rs782492846 CA1040376	707	I>T		No	ClinGen ExAC gnomAD
rs1359498930 CA341866458	709	P>L		No	ClinGen TOPMed gnomAD
rs782066959 CA1040373	710	E>K		No	ClinGen ExAC TOPMed gnomAD
rs781783067 CA1040372	711	G>E		No	ClinGen ExAC gnomAD
CA30293174 rs782035658	712	P>S		No	ClinGen Ensembl
rs1570689758 CA341866365	714	H>P		No	ClinGen Ensembl
rs1553198250 CA341866342	714	H>Q		No	ClinGen gnomAD
CA1040371 COSM1719689 rs782796803	715	P>L	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1553198249 CA341866219	719	S>T		No	ClinGen gnomAD
COSM124805 CA341866172 rs1553198247	721	V>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA341866097 rs1046818561	722	N>K		No	ClinGen TOPMed gnomAD
COSM894747 rs782139286 CA1040370	723	E>K	kidney endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA341865932 rs1374088418	727	N>K		No	ClinGen TOPMed gnomAD
CA341865939 rs1307910167	727	N>S		No	ClinGen TOPMed
CA30293118 rs749662716	730	I>F		No	ClinGen ExAC gnomAD
CA1040368 rs749662716	730	I>V		No	ClinGen ExAC gnomAD
CA30293099 rs782070613	731	H>R		No	ClinGen TOPMed gnomAD
CA341865788 rs1553198236	733	N>D		No	ClinGen gnomAD
rs781963815 CA1040366	738	L>P		No	ClinGen ExAC gnomAD
CA1040350 rs782074318	742	K>R		No	ClinGen ExAC gnomAD
rs199507434 CA1040349	744	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1040348 rs782424159	747	A>T		No	ClinGen ExAC gnomAD
rs782151048 CA1040347	748	G>D		No	ClinGen ExAC TOPMed gnomAD
rs200418677 CA1040346	749	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341864896 rs1553198093	750	V>G		No	ClinGen gnomAD
rs1167480433 CA341864869	752	I>V		No	ClinGen TOPMed
rs1366740759 CA341864802	753	N>D		No	ClinGen TOPMed
rs1553198088 CA341864775	753	N>S		No	ClinGen gnomAD
rs1553198082 CA341864680	757	D>G		No	ClinGen gnomAD
CA341864702 rs1424360694	757	D>H		No	ClinGen TOPMed gnomAD
CA1040345 rs782382368	758	K>Q		No	ClinGen ExAC TOPMed gnomAD
COSM94851 rs782205751 CA1040344	758	K>R	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1553198081 CA341864601	759	N>Y		No	ClinGen gnomAD
rs1553198079 CA341864505	762	L>V		No	ClinGen gnomAD
CA1040342 rs782306821	763	S>L		No	ClinGen ExAC TOPMed gnomAD
CA341864448 rs782306821	763	S>W		No	ClinGen ExAC TOPMed gnomAD
rs782404180 CA1040340	764	N>K		No	ClinGen ExAC TOPMed gnomAD
CA30292081 rs191967732	768	N>D		No	ClinGen Ensembl
CA341864243 rs1359901676	770	G>E		No	ClinGen TOPMed
rs782242746 CA1040338	771	T>I		No	ClinGen ExAC gnomAD
CA1040336 rs782487598	780	R>G		No	ClinGen ExAC gnomAD
rs201992840 CA30292044	782	T>A		No	ClinGen Ensembl
rs781814481 CA1040335	782	T>I		No	ClinGen ExAC gnomAD
CA341863753 rs1358655989	784	K>R		No	ClinGen TOPMed gnomAD
rs781890136 CA341863728	785	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1040332 rs781890136	785	K>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000591418 rs782522898 COSM78187 CA1040314	790	Y>C	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA1040313 rs781857633	791	N>K		No	ClinGen ExAC gnomAD
CA341862282 rs1553197711	793	Q>P		No	ClinGen gnomAD
rs782132637 CA1040312	794	V>A		No	ClinGen ExAC gnomAD
CA1040309 rs142078798	808	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs79519765 CA30290212	811	F>S		No	ClinGen Ensembl
rs1557818366 CA341861699	814	I>K		No	ClinGen Ensembl
CA1040306 rs782757612	814	I>V		No	ClinGen ExAC gnomAD
rs1553197696 CA341861669	815	S>I		No	ClinGen gnomAD
rs1553197696 CA341861676	815	S>N		No	ClinGen gnomAD
rs1553197694 CA341861656	816	G>D		No	ClinGen gnomAD
rs1570685671 CA341861645	817	Y>S		No	ClinGen Ensembl
RCV000730738 CA341861633 rs1448849716	818	T>A		No	ClinGen ClinVar TOPMed dbSNP
rs1186441027 CA341861625	818	T>I		No	ClinGen TOPMed gnomAD
CA341861634 rs1448849716	818	T>P		No	ClinGen TOPMed
CA341861593 rs1570685648	820	H>P		No	ClinGen Ensembl
rs1370016896 CA341861573	821	C>Y		No	ClinGen TOPMed
CA1040303 rs782331548	823	L>V		No	ClinGen ExAC gnomAD
rs886044849 CA10605432 RCV000283077	825	Y>C		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1040260 rs376526633	834	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA341859603 rs1553197411	835	A>T		No	ClinGen gnomAD
CA341859591 rs1553197410	835	A>V		No	ClinGen gnomAD
CA1040258 rs587661379	836	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1040259 rs781931561	836	P>T		No	ClinGen ExAC TOPMed gnomAD
CA341859574 rs1570683967	837	C>R		No	ClinGen Ensembl
rs1570683962 CA341859547	838	S>F		No	ClinGen Ensembl
rs782298053 CA1040257	839	P>S		No	ClinGen ExAC gnomAD
CA341859519 rs1553197408	840	N>D		No	ClinGen gnomAD
CA1040256 rs782669546	840	N>S		No	ClinGen ExAC gnomAD
rs1557817447 CA341859464	841	P>R		No	ClinGen Ensembl
CA30288545 rs267597958	842	C>Y		No	ClinGen Ensembl
CA341859424 rs1553197405	843	E>K		No	ClinGen gnomAD
rs1553197403 CA341859344	845	A>V		No	ClinGen gnomAD
CA341859321 rs1553197402	847	V>L		No	ClinGen gnomAD
CA1040255 rs782520443	853	N>D		No	ClinGen ExAC gnomAD
rs782254411 CA1040254	853	N>S		No	ClinGen ExAC gnomAD
CA30288515 rs782631431	858	T>I		No	ClinGen ExAC TOPMed gnomAD
rs782631431 CA161251 RCV000121712	858	T>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200524116 CA341858947	860	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1040251 rs782798700 RCV000594575	862	A>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000514670 RCV000121713 rs35656321 CA161253	862	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782762412 CA1040249	865	W>L		No	ClinGen ExAC gnomAD
CA341858651 rs782269360	869	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1040236 rs587730290	869	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553197339 CA341858626	873	D>G		No	ClinGen gnomAD
rs782653018 CA1040234	873	D>N		No	ClinGen ExAC
rs1004494435 CA30288057	879	S>F		No	ClinGen TOPMed gnomAD
rs782496620 CA1040233	880	K>N		No	ClinGen ExAC gnomAD
rs782728045 CA1040231	881	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1040232 rs781839140	881	P>T		No	ClinGen ExAC TOPMed gnomAD
rs145079718 CA1040230	883	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1040229 rs781788581	885	H>R		No	ClinGen ExAC gnomAD
rs1553197333 CA341858528	887	L>H		No	ClinGen gnomAD
rs782147498 CA1040227	889	H>R		No	ClinGen ExAC TOPMed gnomAD
rs782806526 CA1040228	889	H>Y		No	ClinGen ExAC gnomAD
CA1040226 rs781871444	891	T>I		No	ClinGen ExAC gnomAD
rs782777538 CA1040225	892	Q>H		No	ClinGen ExAC gnomAD
rs782108690 CA1040224 RCV000731228	893	G>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs781957025 CA1040223	894	S>R		No	ClinGen ExAC gnomAD
CA341858465 rs1381795293	896	M>I		No	ClinGen TOPMed gnomAD
rs782056928 CA1040221	901	P>T		No	ClinGen ExAC TOPMed gnomAD
CA341858409 rs1415448230	904	S>T		No	ClinGen TOPMed
CA30287958 rs997629521	906	M>T		No	ClinGen Ensembl
rs1557817079 CA341858389 RCV000730326	907	D>N		No	ClinGen ClinVar Ensembl dbSNP
CA341858355 RCV000731819 rs1557817072	911	D>G		No	ClinGen ClinVar Ensembl dbSNP
rs1353475244 CA341858359	911	D>N		No	ClinGen TOPMed
CA1040220 rs782013139	912	I>F		No	ClinGen ExAC gnomAD
rs782379413 CA1040219	912	I>T		No	ClinGen ExAC gnomAD
rs1553197318 CA341858343	913	D>A		No	ClinGen gnomAD
CA341858318 rs1570683284	916	L>H		No	ClinGen Ensembl
CA341858309 rs1241117933	918	N>D		No	ClinGen TOPMed gnomAD
rs377647478 CA30283588	921	Q>R		No	ClinGen ESP TOPMed gnomAD
rs886654944 CA30283583	922	N>S		No	ClinGen gnomAD
CA1040202 rs781977143	925	S>P		No	ClinGen ExAC gnomAD
CA341856354 rs1553196495	926	C>S		No	ClinGen gnomAD
CA341856356 rs1553196495	926	C>Y		No	ClinGen gnomAD
rs782079844 CA1040200	927	M>R		No	ClinGen ExAC gnomAD
COSM1172016 CA1040201 rs782350554	927	M>V	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA341856323 rs1553196493	928	D>N		No	ClinGen gnomAD
CA1040199 rs199585130	929	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557814274 CA341856292	930	V>M		No	ClinGen Ensembl
CA341856236 rs1553196488	933	F>S		No	ClinGen gnomAD
CA341856229 rs1553196487	934	S>P		No	ClinGen gnomAD
rs1270173912 CA341856135	940	G>R		No	ClinGen TOPMed
CA341856130 rs1330116393	940	G>V		No	ClinGen TOPMed gnomAD
rs782738849 CA30283486	944	D>G		No	ClinGen Ensembl
rs781814476 CA1040191	945	K>N		No	ClinGen ExAC TOPMed gnomAD
rs192629076 CA30283417	946	C>S		No	ClinGen Ensembl
rs977713300 CA30283410	947	Q>R		No	ClinGen TOPMed gnomAD
CA341855997 rs1553196472	950	M>T		No	ClinGen gnomAD
rs1236892401 CA341856003	950	M>V		No	ClinGen TOPMed
CA30283406 rs782041000	951	N>S		No	ClinGen Ensembl
CA1040190 rs782574952	952	E>D		No	ClinGen ExAC gnomAD
rs1184087054 CA341855894	956	E>D		No	ClinGen TOPMed gnomAD
rs1553196458 CA341855887	957	P>R		No	ClinGen gnomAD
CA341855890 rs1553196466	957	P>T		No	ClinGen gnomAD
rs1412201908 CA341855834	960	N>S		No	ClinGen TOPMed
CA1040189 rs782556856	966	D>H		No	ClinGen ExAC
CA341855725 rs1456398532	968	V>I		No	ClinGen TOPMed gnomAD
rs142978777 CA1040188	969	N>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs782759322 CA1040187	974	K>R		No	ClinGen ExAC gnomAD
CA341855494 rs1553196455	980	D>H		No	ClinGen gnomAD
CA341855446 rs1403687128	983	H>R		No	ClinGen TOPMed gnomAD
CA1040185 rs781813135	986	N>S		No	ClinGen ExAC
CA1040184 rs782704056	989	N>S		No	ClinGen ExAC gnomAD
rs1553196452 CA341855309	993	E>K		No	ClinGen gnomAD
rs782277113 CA1040158	998	N>I		No	ClinGen ExAC TOPMed gnomAD
CA1040157 rs782277113	998	N>S		No	ClinGen ExAC TOPMed gnomAD
rs370769426 CA1040156	1001	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430097344 CA341855059	1004	D>G		No	ClinGen TOPMed
rs782423701 CA341854969	1009	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1553196348 CA341854894 RCV000594524	1012	L>F		No	ClinGen ClinVar Ensembl dbSNP
CA1040151 rs782335325	1014	P>S		No	ClinGen ExAC gnomAD
rs782191722 CA241241 RCV000175481	1016	G>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341854745 rs1553196345	1018	T>I		No	ClinGen gnomAD
CA341854644 rs1553196344	1023	L>F		No	ClinGen gnomAD
rs1301792904 CA341854626	1024	H>Y		No	ClinGen TOPMed gnomAD
rs1553196341 CA341854529	1027	N>S		No	ClinGen gnomAD
rs782643558 CA1040148	1030	S>N		No	ClinGen ExAC gnomAD
rs782643558 CA1040147	1030	S>T		No	ClinGen ExAC gnomAD
rs1038706033 CA30282626 RCV000729568	1035	L>P		No	ClinGen ClinVar TOPMed dbSNP
CA1040145 rs781839292	1035	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1040143 rs782463588	1037	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1553196332 CA341854256	1038	G>R		No	ClinGen gnomAD
rs61755044 COSM202456 CA1040142	1039	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA341854178 rs1553196327	1041	V>D		No	ClinGen gnomAD
CA341854127 rs1553196325	1043	G>D		No	ClinGen gnomAD
CA30282597 rs908409445	1043	G>S		No	ClinGen Ensembl
CA1040138 rs782733443	1044	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA341854073 rs1570676738	1046	T>P		No	ClinGen Ensembl
CA341854068 rs1191837312	1047	Y>H		No	ClinGen TOPMed
rs782077143 COSM26603 CA1040137	1048	R>C	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs142831890 CA161255 RCV000121714	1048	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1417119248 CA341854018	1052	P>A		No	ClinGen TOPMed gnomAD
rs1553196323 CA341854010	1052	P>L		No	ClinGen gnomAD
rs1417119248 CA341854019 RCV000597603	1052	P>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA341853960 rs1553196319	1056	T>S		No	ClinGen gnomAD
CA341853944 rs1553196318	1057	G>A		No	ClinGen gnomAD
rs1342397250 CA341853179	1062	T>A		No	ClinGen TOPMed gnomAD
CA1040125 rs373969789	1064	V>M		No	ClinGen ESP ExAC gnomAD
rs782647890 CA1040124	1066	L>V		No	ClinGen ExAC gnomAD
CA1040122 rs61752485	1069	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1040119 rs782796321	1073	K>E		No	ClinGen ExAC gnomAD
CA1040118 rs145028923	1073	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA1040114 rs375861810	1081	K>Q		No	ClinGen ESP ExAC TOPMed
RCV000597382 rs1553195973	1083	A>missing		No	ClinVar dbSNP
CA1040111 rs782670220	1085	S>F		No	ClinGen ExAC gnomAD
CA341852762 rs1465181496	1086	Q>R		No	ClinGen TOPMed
rs369222174 CA30280891	1091	S>P		No	ClinGen ESP
CA1040107 rs782440081	1094	A>T		No	ClinGen ExAC TOPMed gnomAD
CA341852647 rs782536553	1100	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1040104 rs782536553	1100	V>M		No	ClinGen ExAC TOPMed gnomAD
CA341852633 rs1553195968	1101	P>L		No	ClinGen gnomAD
CA341852637 rs1401457961	1101	P>S		No	ClinGen TOPMed
RCV000273954 CA1040103 rs781872271	1102	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1040101 rs782489357	1103	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1216276567 CA341852550	1106	D>E		No	ClinGen TOPMed
CA1040100 rs781824405	1107	I>V		No	ClinGen ExAC gnomAD
rs1553195958 CA341852463	1111	R>K		No	ClinGen Ensembl
rs782728467 CA1040099	1112	R>G		No	ClinGen ExAC TOPMed gnomAD
CA341852429 rs1553195957	1112	R>S		No	ClinGen gnomAD
rs782456562 CA1040083	1114	V>L		No	ClinGen ExAC TOPMed gnomAD
rs781793211 CA1040082	1116	V>A		No	ClinGen ExAC gnomAD
rs1553195880 CA341852248	1118	H>Y		No	ClinGen gnomAD
rs782550700 CA1040080	1121	Q>R		No	ClinGen ExAC gnomAD
rs1199134768 CA341852144	1125	V>I		No	ClinGen TOPMed
CA341852123 rs1237520927	1127	I>L		No	ClinGen TOPMed gnomAD
rs1479513169 CA341852099	1130	G>A		No	ClinGen TOPMed
RCV000731430 CA161259 RCV000121716 rs782078365	1130	G>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs781929614 CA1040077	1131	N>S		No	ClinGen ExAC
CA1040075 rs782154565	1132	T>M		No	ClinGen ExAC gnomAD
rs782154565 CA1040076	1132	T>R		No	ClinGen ExAC gnomAD
rs1553195867 CA341852061	1136	Q>E		No	ClinGen gnomAD
rs1553195866 CA341852056	1136	Q>H		No	ClinGen gnomAD
rs1173598104 CA341852041	1138	P>L		No	ClinGen TOPMed gnomAD
RCV000730711 rs1557812162	1139	L>missing		No	ClinVar dbSNP
CA1040070 rs782345291	1139	L>M		No	ClinGen ExAC TOPMed gnomAD
CA1040071 rs782345291	1139	L>V		No	ClinGen ExAC TOPMed gnomAD
CA341852030 rs1400252623	1141	Y>H		No	ClinGen TOPMed
rs143866883 CA1040069	1144	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1553195858 CA341852009	1144	S>N		No	ClinGen gnomAD
CA341852003 rs1553195857	1145	Y>H		No	ClinGen gnomAD
CA341851980 rs1368829529	1148	E>K		No	ClinGen TOPMed gnomAD
rs372795716 CA1040063	1151	D>G		No	ClinGen ESP ExAC TOPMed
COSM1600647 rs782503548 CA1040064	1151	D>N	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1040062 rs782579531	1152	E>A		No	ClinGen ExAC gnomAD
CA341851949 rs782579531	1152	E>G		No	ClinGen ExAC gnomAD
CA1040060 COSM1333275 rs367562640	1154	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA341851929 rs1553195854	1155	S>F		No	ClinGen gnomAD
rs782127248 CA1040058	1155	S>P		No	ClinGen ExAC gnomAD
rs782760871 CA1040057	1156	N>I		No	ClinGen ExAC TOPMed gnomAD
CA1040056 rs782760871 RCV000730967	1156	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs782760871 CA341851924	1156	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1553195850 CA341851890	1160	H>D		No	ClinGen gnomAD
CA1040052 rs782169682	1161	G>A		No	ClinGen ExAC TOPMed gnomAD
rs782313621 CA1040053	1161	G>R		No	ClinGen ExAC TOPMed gnomAD
rs919983568 CA30280303	1165	S>R		No	ClinGen Ensembl
rs972812498 CA30280297	1167	F>V		No	ClinGen TOPMed gnomAD
rs1553195843 CA341851775	1168	I>L		No	ClinGen gnomAD
CA30280289 rs782126198	1169	G>A		No	ClinGen TOPMed gnomAD
rs940020746 CA30280279	1170	G>E		No	ClinGen Ensembl
rs782250544 CA1040049	1172	R>G		No	ClinGen ExAC gnomAD
RCV000596022 CA1040047 rs782318679	1174	E>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1475072606 CA341851685	1179	Y>C		No	ClinGen TOPMed
rs1553195641 CA1040027	1180	Q>R		No	ClinGen Ensembl
CA341851668 rs1165929988	1181	G>D		No	ClinGen TOPMed
rs782277118 CA1040026	1182	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1553195638 CA341851646	1185	E>K		No	ClinGen gnomAD
rs185917176 CA1040023	1189	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1040021 rs782464391	1198	N>H		No	ClinGen ExAC TOPMed gnomAD
rs782178309 CA1040020	1198	N>K		No	ClinGen ExAC gnomAD
CA1040019 rs782690681	1201	T>N		No	ClinGen ExAC gnomAD
rs1553195628 CA341851456	1203	I>V		No	ClinGen gnomAD
rs1553195627 CA341851397	1206	V>A		No	ClinGen gnomAD
rs372325070 CA30279142	1208	H>N		No	ClinGen ESP TOPMed
RCV000514929 RCV000121717 CA161261 COSM327925 rs147223770	1209	F>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1553195622 CA341851242	1214	P>S		No	ClinGen gnomAD
CA341851210 rs1553195620	1216	G>C		No	ClinGen gnomAD
CA341851191 rs1553195619	1217	T>I		No	ClinGen gnomAD
rs138122751 CA1040014	1218	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs782115800 CA1039985	1219	G>D		No	ClinGen ExAC gnomAD
CA341894850 rs1553194831	1220	L>V		No	ClinGen gnomAD
rs781976514 CA1039984	1221	L>F		No	ClinGen ExAC gnomAD
CA341894840 rs781976514	1221	L>I		No	ClinGen ExAC gnomAD
RCV000385393 rs886044885 CA10606377	1224	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs1366907623 CA341894613	1231	R>Q		No	ClinGen TOPMed gnomAD
CA1039981 rs782677147	1231	R>W		No	ClinGen ExAC TOPMed gnomAD
CA341894596 rs1217252161	1232	G>C		No	ClinGen TOPMed gnomAD
rs782399497 CA1039980	1232	G>V		No	ClinGen ExAC TOPMed gnomAD
CA341894563 rs1318131579	1233	P>L		No	ClinGen TOPMed
rs782254462 CA341894546	1234	H>P		No	ClinGen ExAC gnomAD
rs782254462 CA1039979	1234	H>R		No	ClinGen ExAC gnomAD
RCV000732104 RCV000121720 CA161267 rs797044475	1234	H>Y		No	ClinGen ClinVar Ensembl dbSNP
rs782493421 RCV000592977 CA1039977	1236	L>F		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA341894488 rs782493421	1236	L>V		No	ClinGen ExAC gnomAD
CA30320418 rs932815477	1238	G>D		No	ClinGen Ensembl
rs781819279 CA1039976	1241	C>Y		No	ClinGen ExAC gnomAD
rs782584599 CA1039975	1242	M>I		No	ClinGen ExAC gnomAD
rs782439330 CA1039974	1243	D>G		No	ClinGen ExAC gnomAD
CA1039973 rs781904654	1249	S>N		No	ClinGen ExAC gnomAD
rs782797192 CA1039972	1251	R>C		No	ClinGen ExAC gnomAD
CA1039971 rs138832326	1251	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1553194817 CA341894060 RCV000594737	1252	C>S		No	ClinGen ClinVar Ensembl dbSNP
rs1488471015 CA341893843	1257	A>S		No	ClinGen TOPMed gnomAD
CA341893795 rs1426282085	1259	E>G		No	ClinGen TOPMed
CA30320393 rs782758979	1265	I>V		No	ClinGen Ensembl
CA1039967 rs782317157	1271	N>I		No	ClinGen ExAC gnomAD
rs1557808434 CA341893561	1272	P>L		No	ClinGen Ensembl
rs1553194803 CA341893546	1274	S>I		No	ClinGen gnomAD
rs1553194799 CA341893539	1275	S>P		No	ClinGen gnomAD
CA1039966 rs141385984	1276	E>Q		No	ClinGen ESP ExAC
rs782369516 CA1039964	1278	S>R		No	ClinGen ExAC gnomAD
rs771317799 CA30320384	1280	D>N		No	ClinGen Ensembl
rs782220354 CA1039963	1282	I>M		No	ClinGen ExAC gnomAD
CA30320382 rs61756000	1284	L>V		No	ClinGen TOPMed gnomAD
CA30320381 rs782457079	1285	T>I		No	ClinGen Ensembl
rs782319914 CA1039961	1286	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1403072397 CA341893321	1289	L>V		No	ClinGen TOPMed gnomAD
rs1553194791 CA341893299	1291	V>F		No	ClinGen gnomAD
rs1399178397 CA341893269	1293	R>C		No	ClinGen TOPMed
rs201968231 CA1039960 RCV000594356	1293	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA526249754 rs1557808384	1293	R>L		No	ClinGen Ensembl
rs782682302 CA1039959	1294	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1039957 rs781872140	1297	T>I		No	ClinGen ExAC TOPMed gnomAD
rs773971657 CA341892318	1299	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1039946 rs773971657	1299	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs371580595 CA1039947	1299	R>W		No	ClinGen ESP ExAC gnomAD
CA1039945 rs150035241	1300	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248742550 CA341892297	1300	H>Q		No	ClinGen TOPMed
rs1226002114 CA341892254	1302	E>G		No	ClinGen gnomAD
CA341892246 rs1316367409	1303	T>P		No	ClinGen TOPMed
rs1359085444 RCV000595027 CA341892236	1303	T>S		No	ClinGen ClinVar TOPMed dbSNP
rs587688280 CA30319602	1305	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs587688280 CA341892200	1305	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1462724778 CA341892167	1307	V>M		No	ClinGen TOPMed
rs1557807225 CA341892095	1310	Q>H		No	ClinGen Ensembl
CA1039939 rs200697252	1311	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1557807220 RCV000722931 CA341892062	1312	P>S		No	ClinGen ClinVar Ensembl dbSNP
CA341891976 rs1380143830	1317	G>A		No	ClinGen gnomAD
rs774311920 CA1039938	1318	T>I		No	ClinGen ExAC gnomAD
rs1288655003 CA341891919	1321	V>G		No	ClinGen gnomAD
rs770576934 CA1039937	1323	S>G		No	ClinGen ExAC gnomAD
CA341891856 rs1397343979	1324	N>T		No	ClinGen gnomAD
rs1019464290 CA30319581	1325	M>I		No	ClinGen TOPMed gnomAD
rs762675231 CA1039936	1325	M>V		No	ClinGen ExAC gnomAD
rs1373672479 CA341891809	1326	P>S		No	ClinGen gnomAD
CA1039935 rs374438857	1332	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1039934 rs772588398	1334	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1039933 rs772588398	1334	P>R		No	ClinGen ExAC TOPMed gnomAD
CA30319569 rs587728425	1334	P>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA30319555 rs746314617	1335	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1039932 rs746314617	1335	P>R		No	ClinGen ExAC TOPMed gnomAD
CA30319561 rs867828762	1335	P>S		No	ClinGen gnomAD
rs1395799589 CA341891418	1339	G>R		No	ClinGen gnomAD
CA341891378 rs1043834394	1341	R>S		No	ClinGen TOPMed
rs1299994808 CA341891333 RCV000594623	1343	Q>H		No	ClinGen ClinVar dbSNP gnomAD
rs776129840 CA1039918	1349	V>M		No	ClinGen ExAC
CA1039917 rs768085919	1352	R>G		No	ClinGen ExAC gnomAD
rs946390070 CA30319327	1353	K>E		No	ClinGen TOPMed gnomAD
CA1039916 rs587725973	1353	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341891095 rs1179526389	1356	Q>E		No	ClinGen gnomAD
CA341891029 rs1570664203	1359	H>P		No	ClinGen Ensembl
CA30319311 rs76636885	1360	T>P		No	ClinGen Ensembl
CA341891001 rs138567855	1361	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs138567855 CA1039914	1361	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA30319304 rs201172334	1364	P>S		No	ClinGen 1000Genomes
rs987757552 CA30319301	1365	R>C		No	ClinGen TOPMed gnomAD
rs951352077 COSM1333273 CA30319297	1365	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs951352077 CA341890936	1365	R>L		No	ClinGen TOPMed gnomAD
CA341890939 rs951352077	1365	R>P		No	ClinGen TOPMed gnomAD
rs778161065 CA1039912	1369	P>L		No	ClinGen ExAC
CA1039910 rs587610159	1372	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs587778575 CA161275 RCV000121724	1372	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs755091995 CA1039909	1374	C>R		No	ClinGen ExAC gnomAD
rs587684919 CA1039907	1375	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs758311065 CA341890739	1377	G>A		No	ClinGen ExAC gnomAD
rs1368507640 CA341890741	1377	G>C		No	ClinGen TOPMed
rs758311065 RCV000263367 CA1039906	1377	G>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA1039905 rs143784183	1379	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA341890695 rs1386811471	1380	S>R		No	ClinGen gnomAD
CA10606777 RCV000354092 rs886044453	1381	S>N		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1418033447 CA16040215	1382	P>H		No	ClinGen gnomAD
CA341890655 rs1366285125	1384	Q>E		No	ClinGen TOPMed
rs1189432071 CA341890650	1384	Q>R		No	ClinGen gnomAD
CA1039903 rs74522665	1386	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776253611 CA1039902	1387	G>C		No	ClinGen ExAC gnomAD
CA341890608 RCV000733321 rs1557806739	1388	S>G		No	ClinGen ClinVar Ensembl dbSNP
CA1039901 rs373035180 RCV000728978	1390	H>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341890576 rs1447985735	1390	H>Y		No	ClinGen gnomAD
CA341890568 rs1203959372	1391	P>T		No	ClinGen gnomAD
CA341890538 rs760072707	1393	R>G		No	ClinGen ExAC TOPMed gnomAD
RCV000513966 CA1039899 rs587735797	1393	R>H		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1235224462 CA341890518	1394	Q>H		No	ClinGen gnomAD
CA341890478 rs1247582500	1398	Y>H		No	ClinGen TOPMed
CA341890461 rs1332719917	1399	S>F		No	ClinGen gnomAD
CA341890436 rs1431729619	1403	A>T		No	ClinGen TOPMed gnomAD
CA1039897 rs771363584	1404	P>L		No	ClinGen ExAC gnomAD
rs1395144495 CA341890406	1407	S>L		No	ClinGen TOPMed gnomAD
CA341890410 rs1482242922	1407	S>P		No	ClinGen gnomAD
CA341890402 rs770222404	1408	G>D		No	ClinGen ExAC TOPMed gnomAD
CA1039894 rs770222404	1408	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1416495604 CA341890397	1409	S>N		No	ClinGen gnomAD
CA1039893 rs145799900	1410	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM462750 CA1039892 rs202022988	1410	R>H	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs41313282 RCV000121725 CA161277 RCV000514264	1413	L>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1039891 rs747085501	1414	Y>F		No	ClinGen ExAC gnomAD
CA341890351 rs1286124918	1416	A>G		No	ClinGen gnomAD
CA341890349 rs369304708	1417	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369304708 CA1039886	1417	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369304708 CA1039887	1417	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1039884 rs749662461	1418	P>L		No	ClinGen ExAC gnomAD
rs1290072854 CA341890327	1420	T>I		No	ClinGen TOPMed
rs1227426692 CA341890321	1421	P>L		No	ClinGen gnomAD
rs1570663978 CA341890324	1421	P>S		No	ClinGen Ensembl
rs1329976856 CA341890316	1422	P>L		No	ClinGen TOPMed gnomAD
rs1570663955 CA341890310	1423	A>G		No	ClinGen Ensembl
rs760325217 CA1039883	1424	T>A		No	ClinGen ExAC TOPMed gnomAD
CA30319217 rs865798739	1425	C>S		No	ClinGen Ensembl
rs774893514 CA1039882	1428	Q>R		No	ClinGen ExAC gnomAD
CA341890275 rs1327901727	1429	Y>H		No	ClinGen gnomAD
rs770346617 CA1039878	1433	K>R		No	ClinGen ExAC
rs747190078 CA1039875	1435	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM1320073 CA1039874 rs747190078	1435	R>Q	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777091426 CA1039876	1435	R>W		No	ClinGen ExAC gnomAD
rs1396051263 CA341890221	1437	G>D		No	ClinGen gnomAD
CA1039872 RCV000359132 rs745861610	1438	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1205329814 CA341890166	1445	S>G		No	ClinGen gnomAD
CA341890155 rs1271172639	1446	H>R		No	ClinGen TOPMed gnomAD
rs757093466 CA1039870	1447	A>P		No	ClinGen ExAC gnomAD
rs757093466 CA341890151	1447	A>T		No	ClinGen ExAC gnomAD
CA341890144 rs1305352699	1448	C>G		No	ClinGen gnomAD
CA1039868 rs777503030	1449	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs587650323 CA1039867	1452	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1160853060 CA341890105	1453	G>A		No	ClinGen TOPMed
rs1403190122 CA341890109	1453	G>S		No	ClinGen TOPMed
rs1388647498 CA341890074	1458	T>A		No	ClinGen TOPMed
rs752334588 CA1039866	1464	A>S		No	ClinGen ExAC gnomAD
CA10606363 RCV000372816 rs886044112	1465	N>S		No	ClinGen ClinVar dbSNP gnomAD
rs919872084 CA30319173	1468	S>F		No	ClinGen TOPMed
rs1274413484 CA341889980	1469	P>L		No	ClinGen Ensembl
rs1364100310 CA341889979	1470	L>F		No	ClinGen gnomAD
rs759078477 CA1039864	1474	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs751003534 CA341889924	1475	Y>C		No	ClinGen ExAC gnomAD
rs751003534 CA1039863	1475	Y>F		No	ClinGen ExAC gnomAD
rs1175903456 CA341889879	1479	Q>H		No	ClinGen gnomAD
rs1431747515 CA341889823	1485	N>D		No	ClinGen gnomAD
rs771682706 CA1039862	1485	N>S		No	ClinGen ExAC TOPMed gnomAD
RCV000481951 rs1064793660	1486	T>missing		No	ClinVar dbSNP
rs762374093 CA1039861	1486	T>M		No	ClinGen ExAC TOPMed gnomAD
CA341889798 rs1131691315	1488	E>K		No	ClinGen gnomAD
rs1131691315 RCV000493990 CA341889796	1488	E>Q		No	ClinGen ClinVar dbSNP gnomAD
rs775778559 CA1039857	1495	E>K		No	ClinGen ExAC gnomAD
CA341889686 rs1284902267	1498	G>E		No	ClinGen TOPMed gnomAD
CA341889683 rs1284902267	1498	G>V		No	ClinGen TOPMed gnomAD
CA1039856 rs772085209	1499	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1370597537 CA341889656	1501	K>R		No	ClinGen gnomAD
CA341889275 rs1289802555	1505	Y>F		No	ClinGen gnomAD
CA1039838 rs761071194	1506	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1039837 rs775624126	1507	K>E		No	ClinGen ExAC gnomAD
rs145558388 COSM106628 CA30318665	1512	H>Y	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs183376312 CA30318662	1513	F>L		No	ClinGen Ensembl
rs893877808 COSM162964 CA30318656	1514	K>R	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs759715260 CA1039835	1517	H>Y		No	ClinGen ExAC gnomAD
CA1039834 rs774418875	1519	D>E		No	ClinGen ExAC gnomAD
CA1039833 rs770939883	1520	Q>R		No	ClinGen ExAC gnomAD
CA341889157 rs1262243342	1521	G>V		No	ClinGen gnomAD
rs1463326610 CA341889138	1524	S>R		No	ClinGen gnomAD
CA341889134 rs1247377683	1524	S>R		No	ClinGen gnomAD
CA341889125 rs1214196530	1525	E>D		No	ClinGen gnomAD
rs769513920 CA1039830	1526	E>D		No	ClinGen ExAC TOPMed gnomAD
rs747949288 CA1039829	1532	L>M		No	ClinGen ExAC gnomAD
CA1039828 rs776462738	1537	D>A		No	ClinGen ExAC TOPMed gnomAD
CA1039827 rs754686107	1538	Q>E		No	ClinGen ExAC gnomAD
CA30318625 rs1045617674	1538	Q>H		No	ClinGen TOPMed
rs1371441403 CA341889015	1541	N>K		No	ClinGen TOPMed
rs1363405327 CA341889012	1542	L>V		No	ClinGen gnomAD
CA1039824 rs587625988	1553	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA30318614 rs924196962	1553	M>L		No	ClinGen Ensembl
rs1302668644 CA341888926	1556	E>Q		No	ClinGen TOPMed
rs754438664 CA1039823	1557	Q>K		No	ClinGen ExAC gnomAD
CA1039822 rs764641032	1559	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1453994271 CA341888897	1560	Q>R		No	ClinGen gnomAD
rs1194257253 CA341888877	1563	R>C		No	ClinGen gnomAD
CA1039819 rs767706572	1563	R>H		No	ClinGen ExAC TOPMed gnomAD
CA30318597 rs767706572	1563	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1039817 rs774541297 RCV000994085	1564	S>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1208726913 CA341888857	1566	L>S		No	ClinGen gnomAD
rs1252720747 CA341888851	1567	R>Q		No	ClinGen gnomAD
CA1039814 rs773068736	1572	L>V		No	ClinGen ExAC gnomAD
rs769788569 RCV000595881 CA1039813	1575	T>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1570662414 CA341888806	1575	T>S		No	ClinGen Ensembl
CA30318573 rs868649567	1577	L>V		No	ClinGen Ensembl
CA1039812 rs775412281	1578	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1039811 rs751299682 RCV000735015	1578	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1039810 rs370059516	1579	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs758032472 CA1039808	1581	R>Q		No	ClinGen ExAC gnomAD
rs779822957 CA1039809	1581	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1039437832 CA30318560	1582	D>N		No	ClinGen TOPMed gnomAD
CA341888759 rs1392252497	1583	S>F		No	ClinGen TOPMed
rs745406752 CA1039807	1583	S>P		No	ClinGen ExAC gnomAD
CA341888731 rs587597840	1586	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1039806 rs587597840	1586	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1252006032 CA341888726	1587	L>F		No	ClinGen gnomAD
rs1482518633 CA341888697	1589	V>A		No	ClinGen gnomAD
CA1039803 rs767980548	1592	Y>H		No	ClinGen ExAC gnomAD
rs587743026 CA1039802	1593	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751817253 CA1039801	1594	G>D		No	ClinGen ExAC gnomAD
rs766562559 CA1039800	1596	K>R		No	ClinGen ExAC gnomAD
CA341888607 rs1570662326	1597	S>A		No	ClinGen Ensembl
rs587663047 CA30318530	1598	A>S		No	ClinGen 1000Genomes
rs763108897 CA1039799	1600	M>K		No	ClinGen ExAC gnomAD
rs1408012970 CA341888581	1600	M>V		No	ClinGen gnomAD
CA1039797 rs765176882	1606	T>A		No	ClinGen ExAC gnomAD
CA341888492 rs761870508	1607	R>C		No	ClinGen ExAC TOPMed gnomAD
RCV000121726 CA161279 rs372710038	1607	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1039795 rs372710038	1607	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs761870508 CA1039796	1607	R>S		No	ClinGen ExAC TOPMed gnomAD
rs866874822 CA30318514	1609	S>F		No	ClinGen Ensembl
CA341888476 rs1454245868	1609	S>T		No	ClinGen gnomAD
CA341888468 rs768613152	1610	L>F		No	ClinGen ExAC TOPMed
rs768613152 CA1039794	1610	L>I		No	ClinGen ExAC TOPMed
rs1570662287 CA341888432	1613	E>D		No	ClinGen Ensembl
rs1557805633 CA341888430	1614	Q>K		No	ClinGen Ensembl
rs775377042 CA1039792	1616	Q>H		No	ClinGen ExAC gnomAD
CA1039791 rs771883723	1617	E>D		No	ClinGen ExAC gnomAD
rs1257826155 CA341888388	1618	V>L		No	ClinGen gnomAD
rs745445206 CA1039790	1619	A>T		No	ClinGen ExAC gnomAD
rs1187287835 CA341888345	1622	K>E		No	ClinGen TOPMed gnomAD
CA341888344 rs1187287835	1622	K>Q		No	ClinGen TOPMed gnomAD
rs1447900658 CA341888310	1626	E>K		No	ClinGen gnomAD
CA341888291 rs1250464944	1627	I>T		No	ClinGen gnomAD
CA1039772 rs759291215	1629	N>T		No	ClinGen ExAC gnomAD
rs1230304595 COSM423611 CA341888253	1630	R>H	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs112363464 CA30318185	1631	Q>H		No	ClinGen gnomAD
CA341888204 rs1397282208	1635	D>E		No	ClinGen TOPMed
CA341888124 rs1441578125	1641	K>N		No	ClinGen TOPMed
rs148354054 CA1039770	1641	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA341888103 rs1318517829	1643	T>A		No	ClinGen gnomAD
CA30318183 rs891328437 RCV000598089	1643	T>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA341888094 rs1324966545	1644	D>A		No	ClinGen gnomAD
CA341888090 rs1324966545	1644	D>V		No	ClinGen gnomAD
rs769177875 RCV000730665 CA30318171	1649	L>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs769177875 CA1039767	1649	L>I		No	ClinGen ExAC TOPMed gnomAD
rs758689134 CA1039764	1654	A>S		No	ClinGen ExAC gnomAD
CA341887500 rs758689134	1654	A>T		No	ClinGen ExAC gnomAD
CA341887475 rs1475486687	1655	I>T		No	ClinGen TOPMed gnomAD
CA341887488 rs1392380573	1655	I>V		No	ClinGen gnomAD
CA1039763 rs750700941	1656	Q>R		No	ClinGen ExAC gnomAD
RCV000728271 CA1039761 rs142462128	1658	T>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs587652462 CA1039759	1662	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs752668646 CA1039757	1663	L>F		No	ClinGen ExAC TOPMed gnomAD
rs752668646 CA341887358	1663	L>V		No	ClinGen ExAC TOPMed gnomAD
CA30316645 rs968432255	1665	S>P		No	ClinGen TOPMed gnomAD
rs968432255 CA341887335	1665	S>T		No	ClinGen TOPMed gnomAD
CA1039754 rs371812503	1666	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs764772186 CA1039733	1673	P>A		No	ClinGen ExAC gnomAD
CA1039732 rs761293438	1673	P>L		No	ClinGen ExAC gnomAD
rs372916164 CA1039731	1675	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs762552264 CA30316485	1676	T>A		No	ClinGen gnomAD
CA341887183 rs1345166838	1677	Q>H		No	ClinGen TOPMed gnomAD
CA1039730 rs772488957	1678	L>F		No	ClinGen ExAC gnomAD
CA341887156 rs1238982700	1680	Y>C		No	ClinGen gnomAD
CA341887127 rs1311544609	1683	A>V		No	ClinGen gnomAD
CA341887126 rs1284787241	1684	V>I		No	ClinGen gnomAD
CA1039727 rs771313011	1685	A>G		No	ClinGen ExAC TOPMed gnomAD
rs749588836 CA341887105	1686	V>F		No	ClinGen ExAC TOPMed
rs749588836 CA341887107	1686	V>I		No	ClinGen ExAC TOPMed
rs749588836 CA1039726	1686	V>L		No	ClinGen ExAC TOPMed
rs60854092 CA1039725	1689	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143134864 CA1039724	1692	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA30316458 rs985942358	1693	I>V		No	ClinGen TOPMed
CA341887011 rs1359123761	1697	V>I		No	ClinGen gnomAD
CA1039721 rs751453549	1698	I>T		No	ClinGen ExAC gnomAD
CA341887001 rs1420971079	1698	I>V		No	ClinGen TOPMed gnomAD
CA1039720 rs374318244	1699	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA341886974 rs1557804957	1700	A>V		No	ClinGen Ensembl
CA30316443 rs999822357	1702	R>P		No	ClinGen gnomAD
COSM3385090 CA1039718 rs750129192	1704	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1039717 rs764895571	1704	R>H		No	ClinGen ExAC gnomAD
CA341886901 rs1179903669	1707	G>V		No	ClinGen gnomAD
CA341886898 rs1196279977	1708	S>P		No	ClinGen TOPMed
CA1039714 rs763602870 COSM894739	1712	P>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1266938076 CA341886822	1717	L>I		No	ClinGen gnomAD
CA341886820 rs1266938076	1717	L>V		No	ClinGen gnomAD
rs1233590749 CA341886813	1718	R>C		No	ClinGen gnomAD
RCV000351663 rs774915799 CA1039712	1718	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1195210396 CA341886803	1719	R>*		No	ClinGen TOPMed
CA341886805 rs1195210396	1719	R>G		No	ClinGen TOPMed
rs767012368 CA30316430	1720	D>E		No	ClinGen Ensembl
RCV000728639 RCV000121729 rs115013051 CA161285	1721	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1039709 rs770168772	1721	A>V		No	ClinGen ExAC gnomAD
CA341886760 rs1437895792	1723	N>S		No	ClinGen TOPMed gnomAD
CA341886745 rs1557804894 RCV000728854	1724	H>Q		No	ClinGen ClinVar Ensembl dbSNP
CA1039708 rs748310274	1725	K>R		No	ClinGen ExAC gnomAD
rs748310274 CA341886740	1725	K>T		No	ClinGen ExAC gnomAD
rs1319985511 CA341886724	1727	R>C		No	ClinGen gnomAD
CA1039707 COSM894738 rs745954022	1727	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1039706 rs768765203	1734	A>P		No	ClinGen ExAC gnomAD
rs746962909 CA1039705	1737	L>M		No	ClinGen ExAC gnomAD
rs1390525447 CA341886606	1738	K>R		No	ClinGen gnomAD
CA341886556 rs1455156439	1739	N>D		No	ClinGen Ensembl
rs747138507 COSM1162837 CA341886546	1740	L>F	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1264643845 CA341886539	1741	S>P		No	ClinGen gnomAD
CA30316239 rs923129064	1751	G>D		No	ClinGen TOPMed gnomAD
rs923129064 CA341886422	1751	G>V		No	ClinGen TOPMed gnomAD
CA1039684 rs772002936	1752	T>A		No	ClinGen ExAC gnomAD
rs745747051 CA1039683	1752	T>I		No	ClinGen ExAC TOPMed gnomAD
CA341886412 rs1251293693	1753	G>R		No	ClinGen gnomAD
rs866225548 CA30316232	1754	T>A		No	ClinGen Ensembl
CA1039682 rs532251094	1754	T>K		No	ClinGen ExAC TOPMed gnomAD
rs757042581 CA1039681	1756	E>D		No	ClinGen ExAC gnomAD
rs940625559 CA30316224	1757	H>Y		No	ClinGen TOPMed gnomAD
RCV000592483 rs1553194093 CA341886347	1758	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs373166152 CA1039680	1759	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1034013158 CA30316216	1760	D>N		No	ClinGen TOPMed gnomAD
rs909117249 CA30316201	1764	P>L		No	ClinGen TOPMed gnomAD
rs1369679869 CA341886245	1767	K>N		No	ClinGen gnomAD
rs1173152616 CA341886243	1768	K>Q		No	ClinGen gnomAD
CA341886233 rs1467506544	1768	K>R		No	ClinGen TOPMed gnomAD
rs777458744 CA1039679	1769	V>A		No	ClinGen ExAC gnomAD
CA30316175 rs1001481437	1769	V>I		No	ClinGen Ensembl
CA1039658 rs754528647	1771	A>D		No	ClinGen ExAC gnomAD
CA341885845 rs1341603661	1772	E>G		No	ClinGen TOPMed
RCV000726383 CA161287 RCV000121730 rs587778576	1772	E>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1039656 rs757669019	1774	E>D		No	ClinGen ExAC gnomAD
CA1039657 rs765869959	1774	E>K		No	ClinGen ExAC gnomAD
CA10606904 RCV000303669 rs886044556	1777	L>F		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs754237679 CA1039655	1779	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1210642970 CA341885726	1783	P>A		No	ClinGen TOPMed
rs753586001 RCV000734258 CA30315491	1783	P>R		No	ClinGen ClinVar Ensembl dbSNP
rs587669550 CA1039653	1784	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1435723160 CA341885696 COSM257548	1786	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1039652 rs587634422	1786	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341885688 rs1317975644	1787	R>Q		No	ClinGen gnomAD
RCV000733931 CA341885684 rs1557804176	1788	P>A		No	ClinGen ClinVar Ensembl dbSNP
rs759588781 CA1039650	1789	W>C		No	ClinGen ExAC gnomAD
rs767625400 CA1039651	1789	W>S		No	ClinGen ExAC gnomAD
CA341885667 rs1489930895	1790	T>A		No	ClinGen TOPMed
rs770932767 CA1039648	1797	A>V		No	ClinGen ExAC gnomAD
rs749112261 CA1039647	1799	I>V		No	ClinGen ExAC gnomAD
rs1450649026 CA341885557	1800	R>C		No	ClinGen TOPMed gnomAD
rs1264016887 CA341885552	1800	R>H		No	ClinGen TOPMed
CA1039646 rs587736939	1801	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1039644 rs769458761	1801	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1290920416 CA341885532	1802	T>A		No	ClinGen gnomAD
rs1557804130 RCV000732960 CA341885521	1803	P>S		No	ClinGen ClinVar Ensembl dbSNP
rs372061331 CA1039643	1804	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA341885496 COSM94849 rs1290746516	1806	A>T	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs144085962 CA1039641	1808	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341885474 rs144085962	1808	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1039639 rs779369076	1810	P>H		No	ClinGen ExAC gnomAD
CA341885449 rs779369076	1810	P>L		No	ClinGen ExAC gnomAD
rs746550861 CA1039640	1810	P>S		No	ClinGen ExAC gnomAD
rs587606204 CA1039638	1811	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
CA341885437 rs1421138915	1812	A>S		No	ClinGen TOPMed
rs754288957 CA1039637	1813	E>Q		No	ClinGen ExAC gnomAD
CA1039636 rs778267540	1814	Q>E		No	ClinGen ExAC gnomAD
CA341885377 rs1224197788	1817	D>Y		No	ClinGen TOPMed gnomAD
rs1430755357 CA341885340	1820	D>N		No	ClinGen gnomAD
CA341885287 rs1392588923	1824	R>C		No	ClinGen TOPMed gnomAD
CA30315394 rs755747980	1824	R>H		No	ClinGen gnomAD
rs1043663163 CA341884975	1837	L>F		No	ClinGen TOPMed
rs1043663163 CA30315109	1837	L>I		No	ClinGen TOPMed
CA1039610 COSM133959 rs766543218	1838	R>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA341884963 rs1416097171	1838	R>Q		No	ClinGen TOPMed
rs1288632342 CA341884953	1839	G>A		No	ClinGen gnomAD
rs1322185580 CA341884960	1839	G>R		No	ClinGen gnomAD
rs1064796810 CA16616961 RCV000483951	1840	G>S		No	ClinGen ClinVar Ensembl dbSNP
CA341884928 rs762907328	1841	S>R		No	ClinGen ExAC TOPMed gnomAD
CA341884905 rs1364033989	1844	L>V		No	ClinGen TOPMed
CA341884880 rs1410633721	1846	D>N		No	ClinGen gnomAD
rs750420602 CA1039608	1848	D>G		No	ClinGen ExAC gnomAD
rs1296823228 CA341884835	1849	E>K		No	ClinGen gnomAD
CA341884834 rs1296823228	1849	E>Q		No	ClinGen gnomAD
CA1039606 rs765121641 COSM894735	1852	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs201094615 CA1039605	1853	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201094615 CA341884756	1853	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776584638 CA1039604	1854	S>F		No	ClinGen ExAC TOPMed gnomAD
CA341884733 rs1405408138	1855	S>F		No	ClinGen gnomAD
CA341884717 rs1473701408	1857	N>D		No	ClinGen gnomAD
CA341884707 rs1405974737	1857	N>S		No	ClinGen gnomAD
CA1039601 rs760470905	1858	I>N		No	ClinGen ExAC gnomAD
CA1039602 rs760470905	1858	I>T		No	ClinGen ExAC gnomAD
rs1472975131 CA341884693	1858	I>V		No	ClinGen gnomAD
CA1039600 rs774975520	1859	I>M		No	ClinGen ExAC gnomAD
rs1369160674 CA341884678	1859	I>V		No	ClinGen TOPMed
CA341884666 rs1221414213	1860	T>S		No	ClinGen TOPMed
CA1039598 rs745390221	1862	L>V		No	ClinGen ExAC TOPMed gnomAD
rs773871008 CA1039597	1863	V>I		No	ClinGen ExAC gnomAD
CA1039592 rs148613210	1875	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1039591 rs148613210	1875	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1039593 rs755328078	1875	R>W		No	ClinGen ExAC TOPMed gnomAD
RCV000731573 CA341884471 rs1557803723	1877	G>V		No	ClinGen ClinVar Ensembl dbSNP
rs1451096517 CA341884429	1880	A>S		No	ClinGen gnomAD
rs1570658382 CA341884419	1880	A>V		No	ClinGen Ensembl
rs1570658371 CA341884396	1882	H>P		No	ClinGen Ensembl
CA1039590 rs758608866	1886	R>C		No	ClinGen ExAC gnomAD
rs1458372923 CA341884335	1886	R>H		No	ClinGen TOPMed
rs1321300597 CA341884325	1887	Y>S		No	ClinGen gnomAD
RCV000728263 rs927740391	1889	R>missing		No	ClinVar dbSNP
rs1557803696 CA341884296	1889	R>L		No	ClinGen Ensembl
CA341884299 rs750477480	1889	R>W		No	ClinGen ExAC gnomAD
CA341884202 COSM1217616 rs753822819	1895	R>C	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA341884206 rs753822819	1895	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1039586 rs753822819	1895	R>S		No	ClinGen ExAC TOPMed gnomAD
rs767105542 CA1039582	1902	D>G		No	ClinGen ExAC TOPMed gnomAD
CA341884021 rs1326501292	1909	M>K		No	ClinGen TOPMed
CA1039579 rs770414720	1909	M>V		No	ClinGen ExAC gnomAD
rs748716440 CA1039578 RCV000761678	1911	R>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA1039577 rs777088375	1912	C>R		No	ClinGen ExAC
CA341883965 rs1557803661 RCV000730941	1914	L>F		No	ClinGen ClinVar Ensembl dbSNP
rs1570658274 CA341883826	1922	A>G		No	ClinGen Ensembl
rs769055004 CA1039576	1923	Q>R		No	ClinGen ExAC
COSM1333269 rs983208690 CA30314719	1931	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1039559 COSM78185 rs200693165	1931	R>H	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA341883032 rs1387359334	1932	N>S		No	ClinGen gnomAD
CA341882905 rs1386119953	1940	R>G		No	ClinGen TOPMed
CA341882902 rs1370908845	1940	R>K		No	ClinGen gnomAD
RCV000595872 CA341882789 rs1553193826	1945	T>I		No	ClinGen ClinVar Ensembl dbSNP
rs1557803353 RCV000729071	1948	L>missing		No	ClinVar dbSNP
rs1161755330 CA341882692	1952	A>S		No	ClinGen TOPMed
RCV000593915 rs312262796 CA344285	1953	R>C		No	ClinGen ClinVar Ensembl dbSNP
rs312262797 RCV000728566 CA344287	1953	R>H		No	ClinGen ClinVar Ensembl dbSNP
CA1039552 rs771230017	1955	A>S		No	ClinGen ExAC gnomAD
CA1039553 rs771230017	1955	A>T		No	ClinGen ExAC gnomAD
CA30314685 rs202169747	1956	V>M		No	ClinGen TOPMed
rs1359658709 CA341882600	1958	G>R		No	ClinGen TOPMed
rs1165534127 CA341882562	1959	M>I		No	ClinGen gnomAD
CA1039550 rs756017909	1960	V>A		No	ClinGen ExAC gnomAD
rs756017909 CA341882551	1960	V>G		No	ClinGen ExAC gnomAD
rs777931587 CA1039551	1960	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1252973323 CA341882516	1963	L>M		No	ClinGen TOPMed gnomAD
rs752665791 CA1039549	1964	I>T		No	ClinGen ExAC gnomAD
CA30314664 rs930621137	1968	A>V		No	ClinGen TOPMed gnomAD
CA1039530 rs748076767	1977	G>E		No	ClinGen ExAC gnomAD
rs868144525 CA30314410	1978	K>R		No	ClinGen Ensembl
CA341882003 rs1553193743 RCV000591980	1987	V>F		No	ClinGen ClinVar Ensembl dbSNP
rs150675443 COSM1581341 CA1039528	1990	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA1039527 rs751385575	1992	A>T		No	ClinGen ExAC gnomAD
CA1039526 rs779769077 RCV000388266	1993	T>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA341881928 rs587652279	1993	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1039525 rs587652279	1993	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1649134213 RCV001092893	1995	L>missing		No	ClinVar dbSNP
rs764694172 CA1039523	1995	L>S		No	ClinGen ExAC gnomAD
CA1039522 rs761367735 RCV000733330	2002	N>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA344289 rs312262801 RCV000364519	2003	R>*		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1039521 rs312262801	2003	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1039520 rs142978073	2003	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1203608659 CA341881775	2005	M>I		No	ClinGen gnomAD
CA1039519 rs760055927	2008	N>I		No	ClinGen ExAC gnomAD
rs1265824460 CA341881714	2008	N>K		No	ClinGen gnomAD
CA341881692 rs1557802966 RCV000734046	2009	K>R		No	ClinGen ClinVar Ensembl dbSNP
CA1039501 rs752104745	2013	P>S		No	ClinGen ExAC TOPMed gnomAD
RCV000314023 CA10606563 rs886044278	2018	A>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1430961661 CA341881297	2019	R>G		No	ClinGen gnomAD
rs201446896 CA1039499 COSM1217617	2019	R>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1430961661 CA341881281	2019	R>W		No	ClinGen gnomAD
CA1039498 rs765526907	2020	E>D		No	ClinGen ExAC gnomAD
CA341881242 rs765526907	2020	E>D		No	ClinGen ExAC gnomAD
rs761872871 CA1039497	2023	Y>C		No	ClinGen ExAC gnomAD
rs776832011 CA1039496	2026	A>V		No	ClinGen ExAC gnomAD
rs1354179416 CA341881105	2028	I>V		No	ClinGen TOPMed
rs745697811 RCV000591699 CA1039491	2035	N>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA1039490 rs756949183	2035	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1194760996 CA341880912	2036	R>P		No	ClinGen gnomAD
CA341880916 rs1194760996	2036	R>Q		No	ClinGen gnomAD
CA341880794 RCV000734818 rs1244625283	2042	M>V		No	ClinGen ClinVar TOPMed dbSNP
rs1223756079 CA341880752	2043	D>E		No	ClinGen gnomAD
CA341880744 rs1221302379	2044	R>C		No	ClinGen gnomAD
CA1039486 rs145077404	2044	R>H		No	ClinGen ESP ExAC gnomAD
rs752157639 CA1039485	2045	L>R		No	ClinGen ExAC gnomAD
rs140353589 CA1039484	2047	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396463321 CA341880635	2048	D>G		No	ClinGen gnomAD
CA1039481 rs377568421	2049	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs192122939 CA341880533	2051	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000730607 CA1039476 rs192122939	2051	R>P		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs192122939 CA1039477 RCV000595048	2051	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA341880561 rs1479580345	2051	R>W		No	ClinGen gnomAD
rs1182654206 CA341880506	2052	D>G		No	ClinGen gnomAD
rs912151272 CA30313894	2052	D>Y		No	ClinGen TOPMed
rs772005110 CA1039475	2053	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1039473 rs774262327	2054	M>L		No	ClinGen ExAC gnomAD
rs1442563727 CA341880451	2054	M>T		No	ClinGen gnomAD
CA341880461 rs774262327	2054	M>V		No	ClinGen ExAC gnomAD
rs1264466873 CA341880349	2056	H>R		No	ClinGen TOPMed gnomAD
rs1557802447 CA341880319	2057	D>G		No	ClinGen Ensembl
CA1039471 rs749007765	2058	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1039468 rs113023165	2060	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1553193616 RCV000591949 CA341879692	2061	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA30313859 rs751709751	2063	D>V		No	ClinGen Ensembl
rs921104591 CA30313862	2063	D>Y		No	ClinGen Ensembl
rs780780177 CA1039467	2065	Y>C		No	ClinGen ExAC gnomAD
CA1039466 rs758985315	2066	N>S		No	ClinGen ExAC gnomAD
CA1039463 rs757540257	2067	V>A		No	ClinGen ExAC TOPMed gnomAD
rs779376273 CA1039464	2067	V>M		No	ClinGen ExAC gnomAD
CA1039462 rs754182384	2068	T>S		No	ClinGen ExAC gnomAD
rs1405521298 CA341879539	2069	P>S		No	ClinGen gnomAD
rs958128432 CA30313842	2073	G>R		No	ClinGen TOPMed
rs958128432 CA341879452	2073	G>S		No	ClinGen TOPMed
CA341879437 rs1264544178	2074	T>A		No	ClinGen TOPMed
rs150516342 CA341879422	2075	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000121735 RCV000513808 rs150516342 COSM30497 CA161297	2075	V>M	lung kidney large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1039460 rs752790878	2076	L>S		No	ClinGen ExAC gnomAD
CA341879361 rs774122067	2079	A>G		No	ClinGen ExAC gnomAD
rs759581817 CA341879365	2079	A>P		No	ClinGen ExAC gnomAD
CA1039458 rs759581817	2079	A>T		No	ClinGen ExAC gnomAD
rs774122067 CA1039457	2079	A>V		No	ClinGen ExAC gnomAD
rs1319173927 CA341879353	2080	L>V		No	ClinGen TOPMed gnomAD
rs762673831 CA1039455	2081	S>P		No	ClinGen ExAC gnomAD
rs1360817753 CA341879306	2082	P>R		No	ClinGen gnomAD
rs1223514910 CA341879311	2082	P>S		No	ClinGen gnomAD
CA10606963 RCV000350996 rs757880322	2084	I>N		No	ClinGen ClinVar dbSNP gnomAD
CA341879281 rs1418430899	2084	I>V		No	ClinGen gnomAD
CA341879217 rs1251232693	2087	P>L		No	ClinGen TOPMed gnomAD
CA1039454 rs773101264	2087	P>T		No	ClinGen ExAC gnomAD
CA1039453 rs769574168	2088	N>K		No	ClinGen ExAC gnomAD
CA30313818 rs979960400	2088	N>S		No	ClinGen TOPMed
rs1289743459 CA341879176	2089	R>G		No	ClinGen gnomAD
CA1039451 rs780906419	2091	F>S		No	ClinGen ExAC gnomAD
CA341879093 rs1570655785	2093	S>G		No	ClinGen Ensembl
rs895348606 CA341879054	2095	K>R		No	ClinGen gnomAD
CA30313801 rs895348606	2095	K>T		No	ClinGen gnomAD
rs1443541732 CA341878976	2098	P>Q		No	ClinGen gnomAD
rs201584590 CA1039449	2099	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341878847 rs1484695811	2103	S>C		No	ClinGen gnomAD
rs757743077 CA1039447	2104	R>G		No	ClinGen ExAC gnomAD
rs587650529 COSM124803 CA1039445	2105	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA1039446 rs372538600	2105	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs756388778 CA1039444	2106	P>H		No	ClinGen ExAC TOPMed gnomAD
CA30313791 rs756388778	2106	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1359272037 CA341878783	2107	S>G		No	ClinGen gnomAD
CA30313790 rs1031665170	2107	S>N		No	ClinGen TOPMed gnomAD
CA341878749 rs1216357911	2108	A>V		No	ClinGen gnomAD
rs1265351543 CA341878708	2110	S>N		No	ClinGen TOPMed gnomAD
CA341878701 rs1360175516	2110	S>R		No	ClinGen gnomAD
rs752915446 CA1039443	2111	T>A		No	ClinGen ExAC TOPMed gnomAD
CA341878680 rs1237418902	2112	M>V		No	ClinGen gnomAD
RCV000594058 CA1039442 rs767621140	2113	P>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs34891988 CA1039441	2115	S>G		No	ClinGen ExAC TOPMed gnomAD
CA341878627 RCV000730675 rs1557802288	2115	S>N		No	ClinGen ClinVar Ensembl dbSNP
rs34891988 CA30313783	2115	S>R		No	ClinGen ExAC TOPMed gnomAD
rs762882072 CA1039438	2122	E>G		No	ClinGen ExAC TOPMed gnomAD
rs199601977 CA30313770	2123	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1336183875 CA341878374	2125	D>V		No	ClinGen gnomAD
CA1039436 rs765110472	2127	K>N		No	ClinGen ExAC gnomAD
CA341878300 rs1470409826	2128	G>A		No	ClinGen gnomAD
CA1039434 rs147507822	2129	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs752929840 CA30313737	2131	R>T		No	ClinGen Ensembl
rs1433958314 CA341878205	2134	S>C		No	ClinGen TOPMed
rs1051003915 RCV000734271 CA30313730	2138	K>E		No	ClinGen ClinVar Ensembl dbSNP
rs746533637 CA1039432	2138	K>R		No	ClinGen ExAC gnomAD
CA1039430 rs771359660	2140	Q>R		No	ClinGen ExAC gnomAD
RCV000480906 rs1064793515	2142	S>missing		No	ClinVar dbSNP
CA341878029 rs1169322950	2146	V>A		No	ClinGen TOPMed
rs370800569 CA30313708	2153	S>Y		No	ClinGen ESP
rs1427819183 CA341877936	2154	L>V		No	ClinGen TOPMed
RCV000355305 CA10605708 rs886043600	2155	E>A		No	ClinGen ClinVar Ensembl dbSNP
rs587640708 CA1039426	2157	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781288790 CA1039425	2158	H>Y		No	ClinGen ExAC gnomAD
rs755184344 CA1039424 COSM3417961	2159	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA341877851 rs1342032771	2161	V>A		No	ClinGen TOPMed
RCV000734518 rs1470762283 CA341877857	2161	V>I		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1039419 rs745537818	2162	S>F		No	ClinGen ExAC TOPMed gnomAD
rs925356795 CA30313682	2163	D>G		No	ClinGen Ensembl
rs587624917 CA1039417	2163	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA30313679 rs978087557	2165	T>P		No	ClinGen Ensembl
CA341877785 rs1179449880	2166	S>C		No	ClinGen TOPMed gnomAD
CA341877784 rs1179449880	2166	S>F		No	ClinGen TOPMed gnomAD
RCV000357190 CA10604764 rs886042848	2166	S>P		No	ClinGen ClinVar Ensembl dbSNP
CA30313671 rs746028501	2167	S>F		No	ClinGen Ensembl
rs760320928 CA1039415	2169	M>V		No	ClinGen ExAC gnomAD
CA341877735 rs1265466830	2171	T>A		No	ClinGen TOPMed
CA341877728 rs1204320422	2171	T>I		No	ClinGen gnomAD
CA341877725 rs1462374639	2172	S>T		No	ClinGen TOPMed gnomAD
rs1389676023 CA341877715	2173	P>A		No	ClinGen TOPMed
CA1039412 rs749837833	2177	Q>R		No	ClinGen ExAC gnomAD
CA1039410 rs770234870	2178	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1039411 rs375876845	2178	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1570655409 CA341877628	2181	N>T		No	ClinGen Ensembl
rs587695537 CA1039407	2183	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1039408 rs781549153	2183	M>T		No	ClinGen ExAC gnomAD
rs369014328 CA1039406	2185	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs369014328 CA341877569	2185	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA341877493 rs1034282992	2191	A>D		No	ClinGen TOPMed gnomAD
rs1034282992 CA30313623	2191	A>V		No	ClinGen TOPMed gnomAD
CA1039402 rs779026020	2194	H>R		No	ClinGen ExAC gnomAD
CA30313618 rs867877904	2195	A>V		No	ClinGen Ensembl
rs753593465 CA1039400	2196	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1322871085 CA341877391	2196	Q>R		No	ClinGen TOPMed
rs763940848 CA1039399	2197	H>Q		No	ClinGen ExAC gnomAD
CA1039398 rs760313933	2198	A>G		No	ClinGen ExAC gnomAD
rs1241583454 CA341877367	2198	A>T		No	ClinGen gnomAD
rs752367130 CA1039397	2199	L>V		No	ClinGen ExAC TOPMed
CA1039394 rs773806339	2203	N>D		No	ClinGen ExAC gnomAD
CA30313598 rs955971034	2209	P>L		No	ClinGen TOPMed
CA341877032 rs1315612221	2211	A>G		No	ClinGen gnomAD
CA341877041 rs1352940498	2211	A>T		No	ClinGen gnomAD
rs1242882244 CA341876923	2215	S>G		No	ClinGen TOPMed gnomAD
CA341876890 rs1382442666	2216	T>I		No	ClinGen gnomAD
rs1386606005 CA341876857 COSM1688429	2219	P>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10602730 RCV000376281 rs886041979	2220	S>*		No	ClinGen ClinVar dbSNP gnomAD
CA341876842 rs886041979	2220	S>L		No	ClinGen gnomAD
CA30313572 rs898248472	2221	V>L		No	ClinGen TOPMed gnomAD
rs776917379 CA1039391	2222	S>G		No	ClinGen ExAC gnomAD
CA1039390 rs769059466	2222	S>N		No	ClinGen ExAC gnomAD
rs1447825836 CA341876713	2227	H>N		No	ClinGen gnomAD
rs1264077860 CA341876679	2228	H>P		No	ClinGen gnomAD
CA30313559 rs1036745356	2230	I>T		No	ClinGen Ensembl
rs1203207253 CA341876607	2231	V>M		No	ClinGen gnomAD
rs886044626 CA10606992 RCV000352731	2235	S>G		No	ClinGen ClinVar Ensembl dbSNP
CA30313551 rs886044626	2235	S>R		No	ClinGen Ensembl
rs1248077115 CA341876501	2236	G>S		No	ClinGen gnomAD
CA1039386 rs745948430	2237	S>I		No	ClinGen ExAC gnomAD
CA341876428 rs369394477	2237	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA341876415 rs1292958721	2238	A>D		No	ClinGen gnomAD
rs1327860375 CA341876417	2238	A>S		No	ClinGen gnomAD
rs1050706168 CA30313528	2251	A>V		No	ClinGen Ensembl
rs1302985075 CA341876100	2252	D>Y		No	ClinGen TOPMed
RCV000521497 rs1553193524 CA341876066	2253	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs1427113995 CA341876055	2254	M>L		No	ClinGen gnomAD
CA30313523 rs769268633	2255	N>S		No	ClinGen gnomAD
CA1039382 rs753813620	2255	N>Y		No	ClinGen ExAC gnomAD
rs1477411561 CA341875962	2258	E>A		No	ClinGen gnomAD
rs1570655141 CA341875940	2259	V>G		No	ClinGen Ensembl
rs1054703109 CA30313512	2259	V>M		No	ClinGen gnomAD
rs767185818 CA341875916	2260	N>K		No	ClinGen ExAC gnomAD
CA10602736 rs886041862 RCV000396824	2263	Q>*		No	ClinGen ClinVar dbSNP gnomAD
CA341875842 rs1289006811	2265	N>H		No	ClinGen gnomAD
CA1039377 rs751079146	2265	N>S		No	ClinGen ExAC gnomAD
rs1340832593 CA341875809	2266	E>K		No	ClinGen TOPMed gnomAD
CA1039376 rs149580724	2268	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422632649 CA341875678	2269	G>R		No	ClinGen gnomAD
RCV000519638 CA341875641 rs1553193512	2269	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA1039374 rs777163497	2271	V>A		No	ClinGen ExAC gnomAD
rs761134514 CA1039372	2273	A>P		No	ClinGen ExAC gnomAD
rs761134514 CA1039373	2273	A>T		No	ClinGen ExAC gnomAD
CA341875529 rs369659944	2274	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1039371 rs369659944	2274	P>S		No	ClinGen ExAC TOPMed gnomAD
CA341875412 rs1557801901	2278	T>S		No	ClinGen Ensembl
rs774643035 CA1039368	2279	H>L		No	ClinGen ExAC gnomAD
CA10607076 rs886044699 RCV000327859	2279	H>Q		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1179993552 CA341875361	2282	I>V		No	ClinGen TOPMed
CA1039367 rs771105389	2283	A>V		No	ClinGen ExAC gnomAD
rs749235944 CA1039366	2285	Q>R		No	ClinGen ExAC gnomAD
CA341875263 RCV000596796 rs1430185090	2287	R>W		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1201355176 CA341875213	2289	P>S		No	ClinGen gnomAD
rs1409300474 CA341875188	2290	E>G		No	ClinGen TOPMed
COSM329079 rs141878560 CA1039364	2290	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs780904023 CA1039362	2293	H>P		No	ClinGen ExAC TOPMed gnomAD
CA1039363 rs747975714	2293	H>Y		No	ClinGen ExAC gnomAD
rs754682986 CA1039361	2294	I>T		No	ClinGen ExAC gnomAD
CA341875098 rs1557801842	2295	T>A		No	ClinGen Ensembl
CA341875025 rs1270274564	2298	R>W		No	ClinGen gnomAD
rs765911576 CA1039359	2300	P>S		No	ClinGen ExAC gnomAD
rs764669567 CA1039356	2302	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1443569299 CA341874848	2303	P>H		No	ClinGen gnomAD
rs1370844431 CA341874828	2304	I>T		No	ClinGen gnomAD
rs761030652 CA1039355	2305	V>M		No	ClinGen ExAC gnomAD
rs959905879 CA30313442	2307	F>C		No	ClinGen TOPMed gnomAD
rs959905879 CA30313443	2307	F>Y		No	ClinGen TOPMed gnomAD
CA1039353 rs376191548	2308	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341874734 rs1557801799	2308	Q>R		No	ClinGen Ensembl
CA341874694 rs1191972942	2310	I>M		No	ClinGen gnomAD
rs1447240411 CA341874645	2314	S>N		No	ClinGen TOPMed gnomAD
CA341874622 rs1221201713	2315	I>N		No	ClinGen TOPMed
rs774696200 CA1039351	2315	I>V		No	ClinGen ExAC gnomAD
rs1311635249 CA341874603	2316	A>V		No	ClinGen TOPMed
rs373527990 CA341874544	2319	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376802142 CA1039347	2320	G>R		No	ClinGen ESP ExAC gnomAD
CA1039348 rs376802142	2320	G>W		No	ClinGen ESP ExAC gnomAD
CA341874516 RCV000731538 rs1177513541	2321	A>V		No	ClinGen ClinVar dbSNP gnomAD
rs781030729 CA1039346	2322	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754734356 CA1039345	2324	P>R		No	ClinGen ExAC TOPMed gnomAD
rs587778577 RCV000121731 CA161289	2325	Q>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA161291 rs587778578 RCV000729463 RCV000121732	2327	T>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1191366966 CA341874401	2327	T>I		No	ClinGen TOPMed
rs757922369 CA1039344	2328	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1307666182 CA341874359	2330	P>L		No	ClinGen gnomAD
rs756715170 CA1039342	2330	P>S		No	ClinGen ExAC gnomAD
rs756715170 CA1039341	2330	P>T		No	ClinGen ExAC gnomAD
rs768047492 CA341874301	2333	A>E		No	ClinGen ExAC TOPMed gnomAD
CA244747 rs143506822 RCV000177814	2333	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs768047492 CA1039339	2333	A>V		No	ClinGen ExAC TOPMed gnomAD
CA341874296 rs1430993556	2334	G>S		No	ClinGen TOPMed
CA341874272 rs1307781580	2335	P>A		No	ClinGen TOPMed
CA341874268 rs1446092371	2335	P>R		No	ClinGen gnomAD
rs774812565 CA1039337	2337	P>L		No	ClinGen ExAC gnomAD
rs1353069574 CA341874206	2338	T>A		No	ClinGen TOPMed
CA341874175 rs1402205871	2339	M>I		No	ClinGen gnomAD
CA1039336 rs766624616	2339	M>T		No	ClinGen ExAC TOPMed gnomAD
rs764321509 CA1039333	2345	M>I		No	ClinGen ExAC gnomAD
CA1039334 rs773396848	2345	M>V		No	ClinGen ExAC TOPMed gnomAD
CA30313374 rs978683539	2346	A>V		No	ClinGen TOPMed
CA1039331 rs370648780 COSM894731	2347	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1039330 rs201993620	2347	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA30313370 rs201993620	2347	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341873940 rs779767032	2348	L>S		No	ClinGen ExAC TOPMed gnomAD
CA1039328 rs779767032	2348	L>W		No	ClinGen ExAC TOPMed gnomAD
CA341873877 rs771816232	2350	S>N		No	ClinGen ExAC TOPMed gnomAD
rs771816232 CA1039327	2350	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1317265963 CA341873833	2353	F>L		No	ClinGen TOPMed gnomAD
rs745504093 CA1039326	2354	P>R		No	ClinGen ExAC gnomAD
rs1189902407 CA341873772	2356	A>T		No	ClinGen TOPMed
CA341873756 rs1378776407	2357	M>V		No	ClinGen gnomAD
rs756702495 CA1039324	2358	M>I		No	ClinGen ExAC TOPMed gnomAD
COSM329075 CA1039325 rs763117840 RCV000728942	2358	M>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA341873685 rs1168462692	2359	P>L		No	ClinGen TOPMed
CA341873704 rs75831573	2359	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341873655 rs1425238069	2360	Q>P		No	ClinGen gnomAD
rs1426504608 CA341873637	2361	Q>E		No	ClinGen gnomAD
CA341873612 rs1367318214	2362	D>Y		No	ClinGen gnomAD
CA341873589 rs1419847830	2363	G>E		No	ClinGen gnomAD
CA1039322 rs371357549	2363	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1479044901 CA341873555	2364	Q>H		No	ClinGen gnomAD
CA1039320 rs766636607	2366	A>V		No	ClinGen ExAC gnomAD
CA341873469 rs1216266278	2368	T>S		No	ClinGen gnomAD
CA1039318 rs750577986	2371	P>A		No	ClinGen ExAC gnomAD
CA341873360 rs1166857688	2371	P>L		No	ClinGen gnomAD
CA1039317 rs765404709	2372	A>T		No	ClinGen ExAC TOPMed gnomAD
rs962237058 CA30313329	2373	Y>C		No	ClinGen TOPMed gnomAD
rs1374498324 CA341873295	2374	H>D		No	ClinGen TOPMed gnomAD
CA30313325 rs1016437727	2374	H>L		No	ClinGen TOPMed
CA1039316 rs761902824	2376	F>S		No	ClinGen ExAC gnomAD
CA1039315 rs367757908	2377	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA341873234 rs1277355453	2377	P>S		No	ClinGen gnomAD
CA1039314 rs139595218	2379	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA341873144 rs1291690396	2381	G>D		No	ClinGen gnomAD
CA341873101 rs1354607034	2383	Y>S		No	ClinGen gnomAD
CA1039310 rs745586179	2384	P>L		No	ClinGen ExAC TOPMed gnomAD
CA1039311 rs771735891	2384	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1193431892 CA341873030	2387	P>A		No	ClinGen gnomAD
CA341873023 rs1193431892	2387	P>S		No	ClinGen gnomAD
rs778456880 CA1039309	2392	Y>D		No	ClinGen ExAC gnomAD
CA341872909 rs778456880 RCV000595845	2392	Y>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA341872869 rs1189981473	2393	A>V		No	ClinGen gnomAD
CA341872858 rs1233538106	2394	S>Y		No	ClinGen gnomAD
CA1039306 rs755598194	2398	A>D		No	ClinGen ExAC gnomAD
rs777355900 CA1039307	2398	A>P		No	ClinGen ExAC gnomAD
rs777355900 CA1039308	2398	A>T		No	ClinGen ExAC gnomAD
CA1039305 rs752104735	2399	E>K		No	ClinGen ExAC gnomAD
RCV000591336 CA1039304 rs587654671	2400	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1373890209 CA341872748	2401	T>I		No	ClinGen gnomAD
CA1039302 rs750750102	2403	S>I		No	ClinGen ExAC TOPMed gnomAD
CA30313282 rs750750102	2403	S>N		No	ClinGen ExAC TOPMed gnomAD
RCV000121736 CA161299 rs587778579	2403	S>R		No	ClinGen ClinVar Ensembl dbSNP
rs1399142103 CA341872659	2405	S>N		No	ClinGen TOPMed gnomAD
CA341872660 rs1399142103	2405	S>T		No	ClinGen TOPMed gnomAD
rs761965953 CA1039300	2406	G>V		No	ClinGen ExAC TOPMed gnomAD
rs35586704 CA341872603	2408	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341872575 rs1433137658	2410	G>S		No	ClinGen gnomAD
rs1180633619 CA341872548	2411	E>A		No	ClinGen gnomAD
rs1056774370 CA30313267	2411	E>D		No	ClinGen TOPMed
rs1251821430 CA341872554	2411	E>Q		No	ClinGen gnomAD
CA341872524 rs1456483605	2412	H>Y		No	ClinGen gnomAD
CA1039298 rs760647558	2414	Y>C		No	ClinGen ExAC gnomAD
rs1254043368 CA341872327	2420	E>A		No	ClinGen gnomAD
rs1317475762 CA341872240	2424	Q>E		No	ClinGen TOPMed gnomAD
CA1039296 rs141961602 RCV000730122	2430	P>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA341872106 rs1375516873	2431	H>Q		No	ClinGen gnomAD
rs759285634 CA1039295	2431	H>Y		No	ClinGen ExAC gnomAD
rs774132081 CA1039294	2436	W>C		No	ClinGen ExAC gnomAD
rs770716987 CA1039293	2440	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1039291 rs769394073	2441	T>I		No	ClinGen ExAC gnomAD
CA1039290 rs769394073	2441	T>S		No	ClinGen ExAC gnomAD
rs1364931001 CA341871798	2444	T>P		No	ClinGen gnomAD
rs1160957358 CA341871753	2445	P>L		No	ClinGen gnomAD
rs375049462 CA1039287	2446	G>E		No	ClinGen ESP ExAC gnomAD
CA341871749 rs1379769528	2446	G>R		No	ClinGen gnomAD
rs375049462 CA1039288	2446	G>V		No	ClinGen ESP ExAC gnomAD
rs757543412 CA341871720	2447	G>A		No	ClinGen ExAC TOPMed gnomAD
CA341871726 rs757543412	2447	G>D		No	ClinGen ExAC TOPMed gnomAD
rs757543412 CA1039284	2447	G>V		No	ClinGen ExAC TOPMed gnomAD
RCV000731226 rs764210725 COSM1581338 CA1039282	2448	A>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1257474890 CA341871668	2449	G>R		No	ClinGen TOPMed
CA1039281 rs756211019	2450	G>V		No	ClinGen ExAC gnomAD
rs1352825600 CA341871576	2452	Q>H		No	ClinGen gnomAD
CA341871577 rs1352825600 RCV000595857	2452	Q>H		No	ClinGen ClinVar dbSNP gnomAD
rs145366664 COSM36208 CA1039279	2453	R>Q	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD
CA1039280 rs587616520	2453	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1311544447 CA341871531	2454	G>E		No	ClinGen gnomAD
CA30313237 rs982883277	2455	P>L		No	ClinGen TOPMed
CA1039277 COSM4142266 rs139658777	2459	M>I	thyroid [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs766270483 CA1039276	2461	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1404382819 CA341871340	2462	P>Q		No	ClinGen TOPMed
rs1360394263 CA341871322	2464	H>D		No	ClinGen TOPMed gnomAD
rs1360394263 CA341871319	2464	H>Y		No	ClinGen TOPMed gnomAD
CA341871258 rs1411408217	2465	N>K		No	ClinGen TOPMed
CA1039275 rs587713310	2465	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000722525 rs1288820640	2466	N>missing		No	ClinVar dbSNP
CA341871218 rs1366987459	2467	M>T		No	ClinGen gnomAD
rs772976262 CA1039274	2467	M>V		No	ClinGen ExAC gnomAD
CA341871114 rs1187087183	2469	V>F		No	ClinGen gnomAD
CA1039273 rs769520444	2471	A>V		No	ClinGen ExAC gnomAD
CA341871028 RCV000732932 rs1276272666	2472	A>C		No	ClinGen ClinVar TOPMed dbSNP

2 associated diseases with Q04721

[MIM: 610205]: Alagille syndrome 2 (ALGS2)

A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. {ECO:0000269|PubMed:16773578}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 102500]: Hajdu-Cheney syndrome (HJCYS)

A rare, autosomal dominant skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes. {ECO:0000269|PubMed:21378985, ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:21681853, ECO:0000269|PubMed:21712856, ECO:0000269|PubMed:21793104, ECO:0000269|PubMed:23389697, ECO:0000269|PubMed:29149593}. Note=The disease is caused by variants affecting the gene represented in this entry. NOTCH2 nonsense and frameshift mutations associated with Hajdu-Cheney syndrome cluster to the last coding exon of the gene. Mutant mRNA products escape nonsense-mediated decay and the resulting truncated NOTCH2 proteins act in a gain-of-function manner (PubMed:21378989). The pathological mechanism at cellular level involves disruption of a high affinity degron recognized by FBXW7 at the C-terminus, loss of interaction with FBXW7, reduced ubiquitination and degradation, and increased NOTCH2 levels. Bone marrow cells derived from HJCYS patients have an enhanced capacity of osteoclastogenesis due to sustained NOTCH2 activity (PubMed:29149593). {ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:29149593}.

Without disease ID

A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. {ECO:0000269|PubMed:16773578}. Note=The disease is caused by variants affecting the gene represented in this entry.
A rare, autosomal dominant skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes. {ECO:0000269|PubMed:21378985, ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:21681853, ECO:0000269|PubMed:21712856, ECO:0000269|PubMed:21793104, ECO:0000269|PubMed:23389697, ECO:0000269|PubMed:29149593}. Note=The disease is caused by variants affecting the gene represented in this entry. NOTCH2 nonsense and frameshift mutations associated with Hajdu-Cheney syndrome cluster to the last coding exon of the gene. Mutant mRNA products escape nonsense-mediated decay and the resulting truncated NOTCH2 proteins act in a gain-of-function manner (PubMed:21378989). The pathological mechanism at cellular level involves disruption of a high affinity degron recognized by FBXW7 at the C-terminus, loss of interaction with FBXW7, reduced ubiquitination and degradation, and increased NOTCH2 levels. Bone marrow cells derived from HJCYS patients have an enhanced capacity of osteoclastogenesis due to sustained NOTCH2 activity (PubMed:29149593). {ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:29149593}.

10 regional properties for Q04721

Type	Name	Position	InterPro Accession
domain	FERM domain	22 - 311	IPR000299
domain	Ezrin/radixin/moesin, C-terminal	519 - 595	IPR011259
domain	FERM, N-terminal	28 - 86	IPR018979
domain	FERM, C-terminal PH-like domain	226 - 315	IPR018980
conserved_site	FERM conserved site	74 - 104	IPR019747-1
conserved_site	FERM conserved site	192 - 221	IPR019747-2
domain	FERM central domain	106 - 222	IPR019748
domain	Band 4.1 domain	18 - 222	IPR019749
domain	ERM family, FERM domain C-lobe	216 - 312	IPR041789
domain	Ezrin/radixin/moesin, alpha-helical domain	346 - 465	IPR046810

Functions

		Description
EC Number
Subcellular Localization	[Notch 2 extracellular truncation]: Cell membrane ; Single-pass type I membrane protein ;
PANTHER Family	PTHR24044	NOTCH LIGAND FAMILY MEMBER
PANTHER Subfamily	PTHR24044:SF505	NOTCH RECEPTOR 2
PANTHER Protein Class	intercellular signal molecule
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

4 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
NF-kappaB binding	Binding to NF-kappaB, a transcription factor for eukaryotic RNA polymerase II promoters.
signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.

44 GO annotations of biological process

Name	Definition
animal organ morphogenesis	Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
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.
atrial septum morphogenesis	The developmental process in which atrial septum is generated and organized. The atrial septum separates the upper chambers (the atria) of the heart from one another.
atrioventricular node development	The process whose specific outcome is the progression of the atrioventricular (AV) node over time, from its formation to the mature structure. The AV node is part of the cardiac conduction system that controls the timing of ventricle contraction by receiving electrical signals from the sinoatrial (SA) node and relaying them to the His-Purkinje system.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
bone remodeling	The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis.
cell fate determination	A process involved in cell fate commitment. Once determination has taken place, a cell becomes committed to differentiate down a particular pathway regardless of its environment.
cellular response to tumor cell	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 from a tumor cell.
cholangiocyte proliferation	The multiplication or reproduction of cholangiocytes, resulting in the expansion of the cholangiocyte population. A cholangiocyte is an epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water.
ciliary body morphogenesis	The process in which the ciliary body generated and organized. The ciliary body is the circumferential tissue inside the eye composed of the ciliary muscle and ciliary processes.
defense response to bacterium	Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.
embryonic limb morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. A limb is an appendage of an animal used for locomotion or grasping.
glomerular capillary formation	The process that gives rise to a glomerular capillary. This process pertains to the initial formation of a structure from unspecified parts.
glomerular visceral epithelial cell development	The process whose specific outcome is the progression of a glomerular visceral epithelial cell over time, from its formation to the mature structure. A glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells.
heart looping	The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation.
hemopoiesis	The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates.
hepatocyte proliferation	The multiplication or reproduction of hepatocytes, resulting in the expansion of a cell population. Hepatocytes form the main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules.
humoral immune response	An immune response mediated through a body fluid.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
inflammatory response to antigenic stimulus	An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes.
intrahepatic bile duct development	The progression of the intrahepatic bile ducts over time, from their formation to the mature structure. Intrahepatic bile ducts (bile ducts within the liver) collect bile from bile canaliculi in the liver, and connect to the extrahepatic bile ducts (bile ducts outside the liver).
left/right axis specification	The establishment, maintenance and elaboration of the left/right axis. The left/right axis is defined by a line that runs orthogonal to both the anterior/posterior and dorsal/ventral axes. Each side is defined from the viewpoint of the organism rather of the observer (as per anatomical axes).
marginal zone B cell differentiation	The process in which a B cell in the spleen acquires the specialized features of a marginal zone B cell. Marginal zone B cells are localized in a distinct anatomical region of the spleen that represents the major antigen-filtering and scavenging area (by specialized macrophages resident there). It appears that they are preselected to express a BCR repertoire similar to B-1 B cells, biased toward bacterial cell wall constituents and senescent self-components (such as oxidized LDL).
morphogenesis of an epithelial sheet	The process in which the anatomical structures of an epithelial sheet are generated and organized. An epithelial sheet is a flat surface consisting of closely packed epithelial cells.
multicellular organism growth	The increase in size or mass of an entire multicellular organism, as opposed to cell growth.
myeloid dendritic cell differentiation	The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
Notch signaling involved in heart development	The series of molecular signals initiated by binding of an extracellular ligand to a Notch receptor on the surface of the target cell and contributing to the progression of the heart over time.
Notch signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
placenta blood vessel development	The process whose specific outcome is the progression of a blood vessel of the placenta over time, from its formation to the mature structure.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of BMP signaling pathway	Any process that activates or increases the frequency, rate or extent of BMP signaling pathway activity.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of keratinocyte proliferation	Any process that increases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population.
positive regulation of osteoclast differentiation	Any process that activates or increases the frequency, rate or extent of osteoclast differentiation.
positive regulation of Ras protein signal transduction	Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction.
proximal tubule development	The process whose specific outcome is the progression of the proximal tubule over time, from its formation to the mature structure. In mammals, the proximal tubule is a nephron tubule that connects Bowman's capsule to the descending thin limb of the loop of Henle. It has a brush border epithelial morphology.
pulmonary valve morphogenesis	The process in which the structure of the pulmonary valve is generated and organized.
regulation of actin cytoskeleton reorganization	Any process that modulates the frequency, rate or extent of actin cytoskeleton reorganization.
regulation of osteoclast development	Any process that modulates the frequency, rate or extent of osteoclast development.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q868Z9	Ppn	Papilin	Drosophila melanogaster (Fruit fly)	SS
P21941	MATN1	Cartilage matrix protein	Homo sapiens (Human)	PR
P46531	NOTCH1	Neurogenic locus notch homolog protein 1	Homo sapiens (Human)	EV
Q6GUQ1	Egfl8	Epidermal growth factor-like protein 8	Mus musculus (Mouse)	PR
Q91V88	Npnt	Nephronectin	Mus musculus (Mouse)	PR
P51942	Matn1	Cartilage matrix protein	Mus musculus (Mouse)	PR
O35516	Notch2	Neurogenic locus notch homolog protein 2	Mus musculus (Mouse)	SS
Q01705	Notch1	Neurogenic locus notch homolog protein 1	Mus musculus (Mouse)	SS
Q07008	Notch1	Neurogenic locus notch homolog protein 1	Rattus norvegicus (Rat)	SS
Q9QW30	Notch2	Neurogenic locus notch homolog protein 2	Rattus norvegicus (Rat)	SS
P13508	glp-1	Protein glp-1	Caenorhabditis elegans	EV
A2RUV0	notch1	Neurogenic locus notch homolog protein 1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS
P46530	notch1a	Neurogenic locus notch homolog protein 1	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MPALRPALLW	ALLALWLCCA	APAHALQCRD	GYEPCVNEGM	CVTYHNGTGY	CKCPEGFLGE
70	80	90	100	110	120
YCQHRDPCEK	NRCQNGGTCV	AQAMLGKATC	RCASGFTGED	CQYSTSHPCF	VSRPCLNGGT
130	140	150	160	170	180
CHMLSRDTYE	CTCQVGFTGK	ECQWTDACLS	HPCANGSTCT	TVANQFSCKC	LTGFTGQKCE
190	200	210	220	230	240
TDVNECDIPG	HCQHGGTCLN	LPGSYQCQCP	QGFTGQYCDS	LYVPCAPSPC	VNGGTCRQTG
250	260	270	280	290	300
DFTFECNCLP	GFEGSTCERN	IDDCPNHRCQ	NGGVCVDGVN	TYNCRCPPQW	TGQFCTEDVD
310	320	330	340	350	360
ECLLQPNACQ	NGGTCANRNG	GYGCVCVNGW	SGDDCSENID	DCAFASCTPG	STCIDRVASF
370	380	390	400	410	420
SCMCPEGKAG	LLCHLDDACI	SNPCHKGALC	DTNPLNGQYI	CTCPQGYKGA	DCTEDVDECA
430	440	450	460	470	480
MANSNPCEHA	GKCVNTDGAF	HCECLKGYAG	PRCEMDINEC	HSDPCQNDAT	CLDKIGGFTC
490	500	510	520	530	540
LCMPGFKGVH	CELEINECQS	NPCVNNGQCV	DKVNRFQCLC	PPGFTGPVCQ	IDIDDCSSTP
550	560	570	580	590	600
CLNGAKCIDH	PNGYECQCAT	GFTGVLCEEN	IDNCDPDPCH	HGQCQDGIDS	YTCICNPGYM
610	620	630	640	650	660
GAICSDQIDE	CYSSPCLNDG	RCIDLVNGYQ	CNCQPGTSGV	NCEINFDDCA	SNPCIHGICM
670	680	690	700	710	720
DGINRYSCVC	SPGFTGQRCN	IDIDECASNP	CRKGATCING	VNGFRCICPE	GPHHPSCYSQ
730	740	750	760	770	780
VNECLSNPCI	HGNCTGGLSG	YKCLCDAGWV	GINCEVDKNE	CLSNPCQNGG	TCDNLVNGYR
790	800	810	820	830	840
CTCKKGFKGY	NCQVNIDECA	SNPCLNQGTC	FDDISGYTCH	CVLPYTGKNC	QTVLAPCSPN
850	860	870	880	890	900
PCENAAVCKE	SPNFESYTCL	CAPGWQGQRC	TIDIDECISK	PCMNHGLCHN	TQGSYMCECP
910	920	930	940	950	960
PGFSGMDCEE	DIDDCLANPC	QNGGSCMDGV	NTFSCLCLPG	FTGDKCQTDM	NECLSEPCKN
970	980	990	1000	1010	1020
GGTCSDYVNS	YTCKCQAGFD	GVHCENNINE	CTESSCFNGG	TCVDGINSFS	CLCPVGFTGS
1030	1040	1050	1060	1070	1080
FCLHEINECS	SHPCLNEGTC	VDGLGTYRCS	CPLGYTGKNC	QTLVNLCSRS	PCKNKGTCVQ
1090	1100	1110	1120	1130	1140
KKAESQCLCP	SGWAGAYCDV	PNVSCDIAAS	RRGVLVEHLC	QHSGVCINAG	NTHYCQCPLG
1150	1160	1170	1180	1190	1200
YTGSYCEEQL	DECASNPCQH	GATCSDFIGG	YRCECVPGYQ	GVNCEYEVDE	CQNQPCQNGG
1210	1220	1230	1240	1250	1260
TCIDLVNHFK	CSCPPGTRGL	LCEENIDDCA	RGPHCLNGGQ	CMDRIGGYSC	RCLPGFAGER
1270	1280	1290	1300	1310	1320
CEGDINECLS	NPCSSEGSLD	CIQLTNDYLC	VCRSAFTGRH	CETFVDVCPQ	MPCLNGGTCA
1330	1340	1350	1360	1370	1380
VASNMPDGFI	CRCPPGFSGA	RCQSSCGQVK	CRKGEQCVHT	ASGPRCFCPS	PRDCESGCAS
1390	1400	1410	1420	1430	1440
SPCQHGGSCH	PQRQPPYYSC	QCAPPFSGSR	CELYTAPPST	PPATCLSQYC	ADKARDGVCD
1450	1460	1470	1480	1490	1500
EACNSHACQW	DGGDCSLTME	NPWANCSSPL	PCWDYINNQC	DELCNTVECL	FDNFECQGNS
1510	1520	1530	1540	1550	1560
KTCKYDKYCA	DHFKDNHCDQ	GCNSEECGWD	GLDCAADQPE	NLAEGTLVIV	VLMPPEQLLQ
1570	1580	1590	1600	1610	1620
DARSFLRALG	TLLHTNLRIK	RDSQGELMVY	PYYGEKSAAM	KKQRMTRRSL	PGEQEQEVAG
1630	1640	1650	1660	1670	1680
SKVFLEIDNR	QCVQDSDHCF	KNTDAAAALL	ASHAIQGTLS	YPLVSVVSES	LTPERTQLLY
1690	1700	1710	1720	1730	1740
LLAVAVVIIL	FIILLGVIMA	KRKRKHGSLW	LPEGFTLRRD	ASNHKRREPV	GQDAVGLKNL
1750	1760	1770	1780	1790	1800
SVQVSEANLI	GTGTSEHWVD	DEGPQPKKVK	AEDEALLSEE	DDPIDRRPWT	QQHLEAADIR
1810	1820	1830	1840	1850	1860
RTPSLALTPP	QAEQEVDVLD	VNVRGPDGCT	PLMLASLRGG	SSDLSDEDED	AEDSSANIIT
1870	1880	1890	1900	1910	1920
DLVYQGASLQ	AQTDRTGEMA	LHLAARYSRA	DAAKRLLDAG	ADANAQDNMG	RCPLHAAVAA
1930	1940	1950	1960	1970	1980
DAQGVFQILI	RNRVTDLDAR	MNDGTTPLIL	AARLAVEGMV	AELINCQADV	NAVDDHGKSA
1990	2000	2010	2020	2030	2040
LHWAAAVNNV	EATLLLLKNG	ANRDMQDNKE	ETPLFLAARE	GSYEAAKILL	DHFANRDITD
2050	2060	2070	2080	2090	2100
HMDRLPRDVA	RDRMHHDIVR	LLDEYNVTPS	PPGTVLTSAL	SPVICGPNRS	FLSLKHTPMG
2110	2120	2130	2140	2150	2160
KKSRRPSAKS	TMPTSLPNLA	KEAKDAKGSR	RKKSLSEKVQ	LSESSVTLSP	VDSLESPHTY
2170	2180	2190	2200	2210	2220
VSDTTSSPMI	TSPGILQASP	NPMLATAAPP	APVHAQHALS	FSNLHEMQPL	AHGASTVLPS
2230	2240	2250	2260	2270	2280
VSQLLSHHHI	VSPGSGSAGS	LSRLHPVPVP	ADWMNRMEVN	ETQYNEMFGM	VLAPAEGTHP
2290	2300	2310	2320	2330	2340
GIAPQSRPPE	GKHITTPREP	LPPIVTFQLI	PKGSIAQPAG	APQPQSTCPP	AVAGPLPTMY
2350	2360	2370	2380	2390	2400
QIPEMARLPS	VAFPTAMMPQ	QDGQVAQTIL	PAYHPFPASV	GKYPTPPSQH	SYASSNAAER
2410	2420	2430	2440	2450	2460
TPSHSGHLQG	EHPYLTPSPE	SPDQWSSSSP	HSASDWSDVT	TSPTPGGAGG	GQRGPGTHMS
2470
EPPHNNMQVY	A