Epas1 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

More than 1000 records found for search term Epas1 (Displaying 1000)
For a more accurate result, please refine your search term.

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
152101911	CV1667161	single nucleotide variant	NM_001430.5(EPAS1):c.-1A>G	not provided [RCV002214147]	uncertain significance	2	46297911	46297911	Human		name
11594706	CV287188	single nucleotide variant	NM_001430.5(EPAS1):c.-4G>A	Erythrocytosis, familial, 4 [RCV000361998]\|not provided [RCV003422318]	benign\|likely benign	2	46297908	46297908	Human	1	name
11644744	CV286504	single nucleotide variant	NM_001430.5(EPAS1):c.-86C>T	Erythrocytosis, familial, 4 [RCV000261524]	uncertain significance	2	46297826	46297826	Human	1	name
11586854	CV289607	single nucleotide variant	NM_001430.5(EPAS1):c.*54C>T	Erythrocytosis, familial, 4 [RCV000290710]	benign\|likely benign	2	46384714	46384714	Human	1	name
11593340	CV289614	single nucleotide variant	NM_001430.5(EPAS1):c.*90C>T	Erythrocytosis, familial, 4 [RCV000348033]	likely benign\|uncertain significance	2	46384750	46384750	Human	1	name
11654349	CV289996	duplication	NM_001430.5(EPAS1):c.-58dup	Familial erythrocytosis [RCV000316652]\|not provided [RCV001683344]	benign	2	46297848	46297849	Human	1	name
28888883	CV885036	single nucleotide variant	NM_001430.5(EPAS1):c.-92G>A	Erythrocytosis, familial, 4 [RCV001138522]	uncertain significance	2	46297820	46297820	Human	1	name
11648604	CV286489	single nucleotide variant	NM_001430.5(EPAS1):c.-452A>C	Erythrocytosis, familial, 4 [RCV000282868]	uncertain significance	2	46297460	46297460	Human	1	name
11658252	CV286491	duplication	NM_001430.5(EPAS1):c.-341dup	Familial erythrocytosis [RCV000347255]	benign	2	46297561	46297562	Human	1	name
11649832	CV286492	single nucleotide variant	NM_001430.5(EPAS1):c.-316C>A	Erythrocytosis, familial, 4 [RCV000289467]	uncertain significance	2	46297596	46297596	Human	1	name
11662947	CV286497	single nucleotide variant	NM_001430.5(EPAS1):c.-138G>T	Erythrocytosis, familial, 4 [RCV000390648]	uncertain significance	2	46297774	46297774	Human	1	name
11588203	CV286503	single nucleotide variant	NM_001430.5(EPAS1):c.-111G>C	Erythrocytosis, familial, 4 [RCV000300981]	uncertain significance	2	46297801	46297801	Human	1	name
11651752	CV286567	deletion	NM_001430.5(EPAS1):c.*540del	Familial erythrocytosis [RCV000300618]\|not provided [RCV004694564]	uncertain significance	2	46385188	46385188	Human	1	name
11659811	CV286570	duplication	NM_001430.5(EPAS1):c.*680dup	Familial erythrocytosis [RCV000361321]	uncertain significance	2	46385334	46385335	Human	1	name
11662201	CV286574	single nucleotide variant	NM_001430.5(EPAS1):c.*733C>G	Familial erythrocytosis [RCV000383658]	uncertain significance	2	46385393	46385393	Human	1	name
11596025	CV287179	single nucleotide variant	NM_001430.5(EPAS1):c.-471C>T	Erythrocytosis, familial, 4 [RCV000377424]\|not provided [RCV001672580]	benign	2	46297441	46297441	Human	1	name
11597271	CV287180	single nucleotide variant	NM_001430.5(EPAS1):c.-347T>G	Erythrocytosis, familial, 4 [RCV000392112]	likely benign\|uncertain significance	2	46297565	46297565	Human	1	name
11657860	CV287183	single nucleotide variant	NM_001430.5(EPAS1):c.-255G>T	Erythrocytosis, familial, 4 [RCV000344592]	uncertain significance	2	46297657	46297657	Human	1	name
11598467	CV287184	single nucleotide variant	NM_001430.5(EPAS1):c.-231C>G	Erythrocytosis, familial, 4 [RCV000405884]\|not provided [RCV004694563]	uncertain significance	2	46297681	46297681	Human	1	name
11583526	CV287190	single nucleotide variant	NM_001430.5(EPAS1):c.26+8G>A	Erythrocytosis, familial, 4 [RCV000267215]	uncertain significance	2	46297945	46297945	Human	1	name
11597210	CV287254	single nucleotide variant	NM_001430.5(EPAS1):c.*111A>G	Erythrocytosis, familial, 4 [RCV000391427]\|not provided [RCV004708634]	benign\|likely benign	2	46384771	46384771	Human	1	name
11598518	CV287271	single nucleotide variant	NM_001430.5(EPAS1):c.*349T>C	Erythrocytosis, familial, 4 [RCV000406397]\|not provided [RCV004709930]	benign\|likely benign	2	46385009	46385009	Human	1	name
11662949	CV287272	single nucleotide variant	NM_001430.5(EPAS1):c.*527G>T	Erythrocytosis, familial, 4 [RCV000390692]	uncertain significance	2	46385187	46385187	Human	1	name
11644600	CV287273	single nucleotide variant	NM_001430.5(EPAS1):c.*594A>G	Erythrocytosis, familial, 4 [RCV000260661]	uncertain significance	2	46385254	46385254	Human	1	name
11586961	CV287279	single nucleotide variant	NM_001430.5(EPAS1):c.*808C>A	Erythrocytosis, familial, 4 [RCV000291562]	benign\|likely benign	2	46385468	46385468	Human	1	name
11587557	CV287280	single nucleotide variant	NM_001430.5(EPAS1):c.*853G>A	Erythrocytosis, familial, 4 [RCV000296081]	benign	2	46385513	46385513	Human	1	name
11655086	CV289524	single nucleotide variant	NM_001430.5(EPAS1):c.-472G>A	Familial erythrocytosis [RCV000322848]	uncertain significance	2	46297440	46297440	Human	1	name
11659291	CV289527	single nucleotide variant	NM_001430.5(EPAS1):c.-102C>G	Erythrocytosis, familial, 4 [RCV000356337]	uncertain significance	2	46297810	46297810	Human	1	name
11655420	CV289615	duplication	NM_001430.5(EPAS1):c.*814dup	Familial erythrocytosis [RCV000325547]	likely benign	2	46385470	46385471	Human	1	name
11658451	CV289619	single nucleotide variant	NM_001430.5(EPAS1):c.*983C>A	Erythrocytosis, familial, 4 [RCV000348788]	uncertain significance	2	46385643	46385643	Human	1	name
11654042	CV289981	single nucleotide variant	NM_001430.5(EPAS1):c.-200A>C	Erythrocytosis, familial, 4 [RCV000314273]	uncertain significance	2	46297712	46297712	Human	1	name
11595297	CV289982	single nucleotide variant	NM_001430.5(EPAS1):c.-140G>A	Erythrocytosis, familial, 4 [RCV000368988]\|not provided [RCV003418052]	benign\|likely benign	2	46297772	46297772	Human	1	name
11649677	CV290030	single nucleotide variant	NM_001430.5(EPAS1):c.*117T>A	Erythrocytosis, familial, 4 [RCV000288707]	uncertain significance	2	46384777	46384777	Human	1	name
11593642	CV290032	single nucleotide variant	NM_001430.5(EPAS1):c.*208T>C	Erythrocytosis, familial, 4 [RCV000350679]\|not provided [RCV004709929]	benign\|likely benign	2	46384868	46384868	Human	1	name
11589452	CV290034	single nucleotide variant	NM_001430.5(EPAS1):c.*354G>C	Erythrocytosis, familial, 4 [RCV000310940]\|not provided [RCV004708635]	benign\|likely benign	2	46385014	46385014	Human	1	name
11660570	CV290035	single nucleotide variant	NM_001430.5(EPAS1):c.*486C>T	Erythrocytosis, familial, 4 [RCV000368146]	uncertain significance	2	46385146	46385146	Human	1	name
11590824	CV290045	single nucleotide variant	NM_001430.5(EPAS1):c.*602G>C	Erythrocytosis, familial, 4 [RCV000322935]	benign\|likely benign	2	46385262	46385262	Human	1	name
11596962	CV290046	single nucleotide variant	NM_001430.5(EPAS1):c.*833G>A	Erythrocytosis, familial, 4 [RCV000388136]	uncertain significance	2	46385493	46385493	Human	1	name
28887440	CV885033	single nucleotide variant	NM_001430.5(EPAS1):c.-401G>A	Erythrocytosis, familial, 4 [RCV001138091]	uncertain significance	2	46297511	46297511	Human	1	name
28887442	CV885034	single nucleotide variant	NM_001430.5(EPAS1):c.-357G>C	Erythrocytosis, familial, 4 [RCV001138092]	uncertain significance	2	46297555	46297555	Human	1	name
28887446	CV885035	single nucleotide variant	NM_001430.5(EPAS1):c.-237C>G	Erythrocytosis, familial, 4 [RCV001138093]	uncertain significance	2	46297675	46297675	Human	1	name
28896647	CV885055	single nucleotide variant	NM_001430.5(EPAS1):c.*150T>G	Erythrocytosis, familial, 4 [RCV001141311]	uncertain significance	2	46384810	46384810	Human	1	name
28896650	CV885056	single nucleotide variant	NM_001430.5(EPAS1):c.*262A>G	Erythrocytosis, familial, 4 [RCV001141312]	benign	2	46384922	46384922	Human	1	name
28896654	CV885057	single nucleotide variant	NM_001430.5(EPAS1):c.*285C>G	Erythrocytosis, familial, 4 [RCV001141313]	uncertain significance	2	46384945	46384945	Human	1	name
28901399	CV885058	single nucleotide variant	NM_001430.5(EPAS1):c.*408T>C	Erythrocytosis, familial, 4 [RCV001143162]	uncertain significance	2	46385068	46385068	Human	1	name
28901401	CV885059	single nucleotide variant	NM_001430.5(EPAS1):c.*512A>G	Erythrocytosis, familial, 4 [RCV001143163]	benign	2	46385172	46385172	Human	1	name
28901403	CV885060	single nucleotide variant	NM_001430.5(EPAS1):c.*537T>G	Erythrocytosis, familial, 4 [RCV001143164]	uncertain significance	2	46385197	46385197	Human	1	name
28901407	CV885061	single nucleotide variant	NM_001430.5(EPAS1):c.*575A>C	Erythrocytosis, familial, 4 [RCV001143165]	benign	2	46385235	46385235	Human	1	name
28882334	CV885062	single nucleotide variant	NM_001430.5(EPAS1):c.*842A>C	Erythrocytosis, familial, 4 [RCV001136601]	benign	2	46385502	46385502	Human	1	name
28882338	CV885063	single nucleotide variant	NM_001430.5(EPAS1):c.*898C>T	Erythrocytosis, familial, 4 [RCV001136602]	uncertain significance	2	46385558	46385558	Human	1	name
28888886	CV887375	single nucleotide variant	NM_001430.5(EPAS1):c.26+7G>C	Erythrocytosis, familial, 4 [RCV001138523]	benign	2	46297944	46297944	Human	1	name
153303295	CV1690262	deletion	NM_001430.5(EPAS1):c.218-8del	not specified [RCV002269162]	benign	2	46356134	46356134	Human		name
11587871	CV286519	single nucleotide variant	NM_001430.5(EPAS1):c.218-9C>T	Erythrocytosis, familial, 4 [RCV000298342]\|not provided [RCV001672581]	benign	2	46356142	46356142	Human	1	name
11594387	CV286580	single nucleotide variant	NM_001430.5(EPAS1):c.*1276G>A	Erythrocytosis, familial, 4 [RCV000358715]	benign	2	46385936	46385936	Human	1	name
11583930	CV286581	single nucleotide variant	NM_001430.5(EPAS1):c.*1614C>T	Erythrocytosis, familial, 4 [RCV000270104]	benign\|likely benign	2	46386274	46386274	Human	1	name
11656344	CV286582	single nucleotide variant	NM_001430.5(EPAS1):c.*1620G>C	Erythrocytosis, familial, 4 [RCV000332827]	uncertain significance	2	46386280	46386280	Human	1	name
11591707	CV286583	single nucleotide variant	NM_001430.5(EPAS1):c.*1790G>A	Erythrocytosis, familial, 4 [RCV000331477]	likely benign\|uncertain significance	2	46386450	46386450	Human	1	name
11598471	CV287299	single nucleotide variant	NM_001430.5(EPAS1):c.*1272C>T	Erythrocytosis, familial, 4 [RCV000405939]\|not provided [RCV003422321]	benign\|likely benign	2	46385932	46385932	Human	1	name
11597056	CV287300	single nucleotide variant	NM_001430.5(EPAS1):c.*1724G>A	Erythrocytosis, familial, 4 [RCV000389720]\|not provided [RCV004709931]	benign\|likely benign	2	46386384	46386384	Human	1	name
11584464	CV287304	single nucleotide variant	NM_001430.5(EPAS1):c.*1746G>A	Familial erythrocytosis [RCV000274101]	likely benign	2	46386406	46386406	Human	1	name
11656587	CV287305	single nucleotide variant	NM_001430.5(EPAS1):c.*1916C>A	Erythrocytosis, familial, 4 [RCV000334878]	uncertain significance	2	46386576	46386576	Human	1	name
11592389	CV289623	single nucleotide variant	NM_001430.5(EPAS1):c.*1207A>C	Erythrocytosis, familial, 4 [RCV000338095]	benign\|likely benign	2	46385867	46385867	Human	1	name
11597394	CV289625	single nucleotide variant	NM_001430.5(EPAS1):c.*1225C>T	Erythrocytosis, familial, 4 [RCV000393637]	uncertain significance	2	46385885	46385885	Human	1	name
11587862	CV289627	single nucleotide variant	NM_001430.5(EPAS1):c.*1239A>G	Erythrocytosis, familial, 4 [RCV000298454]\|not provided [RCV004708636]	benign\|likely benign	2	46385899	46385899	Human	1	name
11659657	CV289636	duplication	NM_001430.5(EPAS1):c.*1247dup	Familial erythrocytosis [RCV000359929]	likely benign	2	46385903	46385904	Human	1	name
11594713	CV289637	single nucleotide variant	NM_001430.5(EPAS1):c.*1373C>A	Erythrocytosis, familial, 4 [RCV000362393]	likely benign\|uncertain significance	2	46386033	46386033	Human	1	name
11661236	CV289641	single nucleotide variant	NM_001430.5(EPAS1):c.*1827C>T	Erythrocytosis, familial, 4 [RCV000374427]	uncertain significance	2	46386487	46386487	Human	1	name
11588592	CV290010	single nucleotide variant	NM_001430.5(EPAS1):c.574-5C>G	EPAS1-related disorder [RCV003910298]\|Erythrocytosis, familial, 4 [RCV000304300]\|not provided [RCV003409535]	benign\|likely benign	2	46360880	46360880	Human	1	name , alternate_id
11583337	CV290011	single nucleotide variant	NM_001430.5(EPAS1):c.779+8G>T	Erythrocytosis, familial, 4 [RCV000265795]\|not provided [RCV003418054]	benign\|likely benign	2	46361098	46361098	Human	1	name
11648230	CV290047	single nucleotide variant	NM_001430.5(EPAS1):c.*1134T>C	Erythrocytosis, familial, 4 [RCV000280678]	uncertain significance	2	46385794	46385794	Human	1	name
11588278	CV290049	single nucleotide variant	NM_001430.5(EPAS1):c.*1275C>A	Erythrocytosis, familial, 4 [RCV000301543]	benign\|likely benign	2	46385935	46385935	Human	1	name
11584050	CV290061	single nucleotide variant	NM_001430.5(EPAS1):c.*1278C>T	Erythrocytosis, familial, 4 [RCV000271189]	likely benign\|uncertain significance	2	46385938	46385938	Human	1	name
11591404	CV290065	single nucleotide variant	NM_001430.5(EPAS1):c.*1290C>T	Erythrocytosis, familial, 4 [RCV000328560]	uncertain significance	2	46385950	46385950	Human	1	name
11585599	CV290070	single nucleotide variant	NM_001430.5(EPAS1):c.*1878T>C	Erythrocytosis, familial, 4 [RCV000282290]	benign\|likely benign	2	46386538	46386538	Human	1	name
402490748	CV2980918	single nucleotide variant	NM_001430.5(EPAS1):c.573+7C>A	not provided [RCV003713750]	likely benign	2	46360763	46360763	Human		name
405202568	CV3067086	single nucleotide variant	NM_001430.5(EPAS1):c.455-9C>T	EPAS1-related disorder [RCV003956518]\|not provided [RCV003730925]	likely benign	2	46360629	46360629	Human	1	name , alternate_id
405213507	CV3127577	single nucleotide variant	NM_001430.5(EPAS1):c.26+12T>C	not provided [RCV003823625]	benign	2	46297949	46297949	Human		name
598129034	CV3886837	duplication	NM_001430.5(EPAS1):c.218-8dup	not provided [RCV005244497]	likely benign	2	46356133	46356134	Human		name
28889833	CV885064	single nucleotide variant	NM_001430.5(EPAS1):c.*1182G>A	Erythrocytosis, familial, 4 [RCV001138840]	uncertain significance	2	46385842	46385842	Human	1	name
28889836	CV885065	single nucleotide variant	NM_001430.5(EPAS1):c.*1260T>C	Erythrocytosis, familial, 4 [RCV001138841]	benign	2	46385920	46385920	Human	1	name
28896962	CV885066	single nucleotide variant	NM_001430.5(EPAS1):c.*1305G>A	Erythrocytosis, familial, 4 [RCV001141423]	uncertain significance	2	46385965	46385965	Human	1	name
28896965	CV885067	single nucleotide variant	NM_001430.5(EPAS1):c.*1373C>G	Erythrocytosis, familial, 4 [RCV001141424]	uncertain significance	2	46386033	46386033	Human	1	name
28896969	CV885068	single nucleotide variant	NM_001430.5(EPAS1):c.*1566T>C	Erythrocytosis, familial, 4 [RCV001141425]	benign	2	46386226	46386226	Human	1	name
28896971	CV885069	single nucleotide variant	NM_001430.5(EPAS1):c.*1611A>G	Erythrocytosis, familial, 4 [RCV001141426]	uncertain significance	2	46386271	46386271	Human	1	name
28901654	CV885070	single nucleotide variant	NM_001430.5(EPAS1):c.*1729T>C	Erythrocytosis, familial, 4 [RCV001143270]	uncertain significance	2	46386389	46386389	Human	1	name
28901656	CV885071	single nucleotide variant	NM_001430.5(EPAS1):c.*1898C>A	Erythrocytosis, familial, 4 [RCV001143271]	uncertain significance	2	46386558	46386558	Human	1	name
28882687	CV885072	single nucleotide variant	NM_001430.5(EPAS1):c.*1917G>A	Erythrocytosis, familial, 4 [RCV001136700]	uncertain significance	2	46386577	46386577	Human	1	name
150465515	CV1252894	single nucleotide variant	NM_001430.5(EPAS1):c.218-55C>A	not provided [RCV001670218]	benign	2	46356096	46356096	Human		name
150503993	CV1257907	single nucleotide variant	NM_001430.5(EPAS1):c.26+315G>C	not provided [RCV001677595]	benign	2	46298252	46298252	Human		name
150494444	CV1282647	single nucleotide variant	NM_001430.5(EPAS1):c.26+179G>A	not provided [RCV001717206]	benign	2	46298116	46298116	Human		name
401937525	CV2815732	single nucleotide variant	NM_001430.5(EPAS1):c.2287+8G>A	not provided [RCV003415560]	conflicting interpretations of pathogenicity\|uncertain significance	2	46382097	46382097	Human		name
11593631	CV286509	single nucleotide variant	NM_001430.5(EPAS1):c.218-11C>G	Erythrocytosis, familial, 4 [RCV000350588]\|not provided [RCV003422320]	benign\|likely benign	2	46356140	46356140	Human	1	name
11596811	CV286511	single nucleotide variant	NM_001430.5(EPAS1):c.218-11C>T	Erythrocytosis, familial, 4 [RCV000386698]\|not provided [RCV001712065]	benign	2	46356140	46356140	Human	1	name
11654988	CV286571	microsatellite	NM_001430.5(EPAS1):c.*715AG[1]	Familial erythrocytosis [RCV000322147]	uncertain significance	2	46385375	46385376	Human		name
405211931	CV2868081	single nucleotide variant	NM_001430.5(EPAS1):c.1250-4A>T	not provided [RCV003552663]	likely benign	2	46377890	46377890	Human		name
11591135	CV287191	single nucleotide variant	NM_001430.5(EPAS1):c.218-12C>T	Erythrocytosis, familial, 4 [RCV000326228]	benign\|likely benign	2	46356139	46356139	Human	1	name
11598353	CV287199	single nucleotide variant	NM_001430.5(EPAS1):c.574-11G>A	Erythrocytosis, familial, 4 [RCV000404361]\|not provided [RCV002519980]\|not specified [RCV005230263]	benign\|likely benign	2	46360874	46360874	Human	1	name
11591529	CV287200	single nucleotide variant	NM_001430.5(EPAS1):c.1035-7C>G	EPAS1-related disorder [RCV003972423]\|Erythrocytosis, familial, 4 [RCV000329925]\|not provided [RCV001613097]\|sorafenib response - Toxicity [RCV003227743]	benign\|drug response	2	46376532	46376532	Human	1	name , alternate_id
11647491	CV287218	duplication	NM_001430.5(EPAS1):c.2045+8dup	Erythrocytosis, familial, 4 [RCV005230264]\|Familial erythrocytosis [RCV000276622]\|not provided [RCV003542298]	benign\|likely benign	2	46380723	46380724	Human	2	name
405201045	CV2877123	single nucleotide variant	NM_001430.5(EPAS1):c.1035-7C>A	not provided [RCV003551306]	likely benign	2	46376532	46376532	Human		name
405065496	CV2879126	single nucleotide variant	NM_001430.5(EPAS1):c.217+11C>G	not provided [RCV003548210]	likely benign	2	46347074	46347074	Human		name
11586984	CV289541	single nucleotide variant	NM_001430.5(EPAS1):c.218-12C>A	Erythrocytosis, familial, 4 [RCV000291993]\|not provided [RCV003418053]	benign\|likely benign	2	46356139	46356139	Human	1	name
11587041	CV289544	single nucleotide variant	NM_001430.5(EPAS1):c.218-10C>A	Erythrocytosis, familial, 4 [RCV000292378]\|not provided [RCV000960230]	benign\|likely benign	2	46356141	46356141	Human	1	name
11596819	CV289578	single nucleotide variant	NM_001430.5(EPAS1):c.1035-6C>G	Erythrocytosis, familial, 4 [RCV000386750]\|not provided [RCV000975455]	benign\|likely benign	2	46376533	46376533	Human	1	name
11647600	CV289580	deletion	NM_001430.5(EPAS1):c.1035-6del	Familial erythrocytosis [RCV000277406]	uncertain significance	2	46376527	46376527	Human	1	name
11589249	CV290012	single nucleotide variant	NM_001430.5(EPAS1):c.780-15T>A	Erythrocytosis, familial, 4 [RCV000309206]\|not provided [RCV001712123]	benign	2	46369812	46369812	Human	1	name
11598557	CV290022	single nucleotide variant	NM_001430.5(EPAS1):c.1554+7G>A	Erythrocytosis, familial, 4 [RCV000407220]	likely benign\|uncertain significance	2	46378774	46378774	Human	1	name
405228588	CV2973636	single nucleotide variant	NM_001430.5(EPAS1):c.2046-5G>C	not provided [RCV003681803]	likely benign	2	46381591	46381591	Human		name
405144315	CV3126147	single nucleotide variant	NM_001430.5(EPAS1):c.779+13G>A	not provided [RCV003817063]	likely benign	2	46361103	46361103	Human		name
405052349	CV3138360	single nucleotide variant	NM_001430.5(EPAS1):c.574-12C>T	not provided [RCV003832204]	likely benign	2	46360873	46360873	Human		name
405255586	CV3172481	single nucleotide variant	NM_001430.5(EPAS1):c.217+17C>T	not provided [RCV003872419]	benign	2	46347080	46347080	Human		name
405262582	CV3184984	single nucleotide variant	NM_001430.5(EPAS1):c.1444-8G>T	not provided [RCV003885548]	likely benign	2	46378649	46378649	Human		name
405262587	CV3184985	single nucleotide variant	NM_001430.5(EPAS1):c.1444-7C>T	not provided [RCV003885549]	likely benign	2	46378650	46378650	Human		name
405295017	CV3215068	single nucleotide variant	NM_001430.5(EPAS1):c.2287+9C>T	EPAS1-related disorder [RCV003936914]	likely benign	2	46382098	46382098	Human		name , trait , alternate_id
597850318	CV3761803	single nucleotide variant	NM_001430.5(EPAS1):c.887-10C>T	not provided [RCV005087899]	likely benign	2	46375680	46375680	Human		name
597936475	CV3807651	single nucleotide variant	NM_001430.5(EPAS1):c.2288-9G>T	not provided [RCV005158030]	likely benign	2	46382416	46382416	Human		name
597950397	CV3846910	single nucleotide variant	NM_001430.5(EPAS1):c.1035-8C>G	not provided [RCV005190081]	likely benign	2	46376531	46376531	Human		name
28889193	CV887376	single nucleotide variant	NM_001430.5(EPAS1):c.886+12G>A	Erythrocytosis, familial, 4 [RCV001138626]\|not provided [RCV003769659]	likely benign	2	46369945	46369945	Human	1	name
150336303	CV1164896	single nucleotide variant	NM_001430.5(EPAS1):c.887-107T>C	not provided [RCV001530784]	benign	2	46375583	46375583	Human		name
150332574	CV1168921	single nucleotide variant	NM_001430.5(EPAS1):c.454+112T>G	not provided [RCV001536951]	benign	2	46356920	46356920	Human		name
150335230	CV1170970	single nucleotide variant	NM_001430.5(EPAS1):c.2046-56A>C	not provided [RCV001540466]	likely benign	2	46381540	46381540	Human		name
150510643	CV1211806	single nucleotide variant	NM_001430.5(EPAS1):c.2173-27C>T	not provided [RCV001597702]	benign	2	46381948	46381948	Human		name
150468125	CV1220131	single nucleotide variant	NM_001430.5(EPAS1):c.1554+29T>G	not provided [RCV001614622]	benign	2	46378796	46378796	Human		name
150486769	CV1225796	single nucleotide variant	NM_001430.5(EPAS1):c.1554+48G>C	not provided [RCV001617957]	benign	2	46378815	46378815	Human		name
150516922	CV1227361	single nucleotide variant	NM_001430.5(EPAS1):c.779+259G>T	not provided [RCV001639462]	benign	2	46361349	46361349	Human		name
150514419	CV1228210	single nucleotide variant	NM_001430.5(EPAS1):c.1443+61A>G	not provided [RCV001638488]	benign	2	46378148	46378148	Human		name
150454467	CV1232277	single nucleotide variant	NM_001430.5(EPAS1):c.887-151C>A	not provided [RCV001648290]	benign	2	46375539	46375539	Human		name
150440376	CV1233377	single nucleotide variant	NM_001430.5(EPAS1):c.1035-38A>C	not provided [RCV001645065]	benign	2	46376501	46376501	Human		name
150500701	CV1238231	single nucleotide variant	NM_001430.5(EPAS1):c.218-103A>T	not provided [RCV001656661]	benign	2	46356048	46356048	Human		name
150487648	CV1251558	single nucleotide variant	NM_001430.5(EPAS1):c.1249+38C>T	not provided [RCV001674229]	benign	2	46376791	46376791	Human		name
150475134	CV1252963	single nucleotide variant	NM_001430.5(EPAS1):c.2288-26G>A	not provided [RCV001671871]	benign	2	46382399	46382399	Human		name
150464032	CV1263894	single nucleotide variant	NM_001430.5(EPAS1):c.2461+27C>G	not provided [RCV001682595]	benign	2	46382625	46382625	Human		name
150493975	CV1282379	single nucleotide variant	NM_001430.5(EPAS1):c.2173-69C>G	not provided [RCV001717115]	benign	2	46381906	46381906	Human		name
150480109	CV1282500	single nucleotide variant	NM_001430.5(EPAS1):c.369+152G>A	not provided [RCV001714583]	benign	2	46356454	46356454	Human		name
150494462	CV1282652	single nucleotide variant	NM_001430.5(EPAS1):c.886+224T>C	not provided [RCV001717209]	benign	2	46370157	46370157	Human		name
405087689	CV2862175	single nucleotide variant	NM_001430.5(EPAS1):c.2173-20T>C	not provided [RCV003549573]	likely benign	2	46381955	46381955	Human		name
11596916	CV286532	single nucleotide variant	NM_001430.5(EPAS1):c.1035-15T>C	Erythrocytosis, familial, 4 [RCV000388062]\|not provided [RCV001582980]	benign\|likely benign	2	46376524	46376524	Human	1	name
405228577	CV2973635	single nucleotide variant	NM_001430.5(EPAS1):c.2045+20C>T	not provided [RCV003681802]	likely benign	2	46380737	46380737	Human		name
405041096	CV3063871	single nucleotide variant	NM_001430.5(EPAS1):c.2287+10G>A	not provided [RCV003739858]	likely benign	2	46382099	46382099	Human		name
405172974	CV3122829	single nucleotide variant	NM_001430.5(EPAS1):c.1444-16C>G	not provided [RCV003819227]	likely benign	2	46378641	46378641	Human		name
402521731	CV3179482	single nucleotide variant	NM_001430.5(EPAS1):c.1250-20C>T	Erythrocytosis, familial, 4 [RCV005230597]\|not provided [RCV003879734]	benign	2	46377874	46377874	Human	1	name
597902742	CV3741534	single nucleotide variant	NM_001430.5(EPAS1):c.1555-18G>T	not provided [RCV005072505]	likely benign	2	46380209	46380209	Human		name
597892472	CV3749418	single nucleotide variant	NM_001430.5(EPAS1):c.1443+20C>T	not provided [RCV005071202]	likely benign	2	46378107	46378107	Human		name
597856072	CV3758746	single nucleotide variant	NM_001430.5(EPAS1):c.1444-18C>T	not provided [RCV005088706]	likely benign	2	46378639	46378639	Human		name
597945136	CV3812866	single nucleotide variant	NM_001430.5(EPAS1):c.2288-20C>G	not provided [RCV005159879]	likely benign	2	46382405	46382405	Human		name
597856637	CV3816605	single nucleotide variant	NM_001430.5(EPAS1):c.1444-16C>A	not provided [RCV005146178]	likely benign	2	46378641	46378641	Human		name
598125509	CV3881646	single nucleotide variant	NM_001430.5(EPAS1):c.1035-16C>T	not specified [RCV005232552]	likely benign	2	46376523	46376523	Human		name
598128105	CV3883124	duplication	NM_001430.5(EPAS1):c.1035-16dup	Erythrocytosis, familial, 4 [RCV005234657]	likely benign	2	46376522	46376523	Human	1	name
598128106	CV3883125	single nucleotide variant	NM_001430.5(EPAS1):c.1035-13T>C	Erythrocytosis, familial, 4 [RCV005234658]	likely benign	2	46376526	46376526	Human	1	name
150514063	CV1210840	single nucleotide variant	NM_001430.5(EPAS1):c.1249+151C>T	not provided [RCV001598881]	benign	2	46376904	46376904	Human		name
150514462	CV1212020	single nucleotide variant	NM_001430.5(EPAS1):c.2461+224A>T	not provided [RCV001599089]	benign	2	46382822	46382822	Human		name
150503581	CV1212511	single nucleotide variant	NM_001430.5(EPAS1):c.1250-176T>C	not provided [RCV001595386]	benign	2	46377718	46377718	Human		name
150506087	CV1213690	single nucleotide variant	NM_001430.5(EPAS1):c.2461+220A>G	not provided [RCV001595946]	benign	2	46382818	46382818	Human		name
150463650	CV1214816	single nucleotide variant	NM_001430.5(EPAS1):c.1034+284C>T	not provided [RCV001613811]	benign	2	46376121	46376121	Human		name
150472959	CV1217266	single nucleotide variant	NM_001430.5(EPAS1):c.1034+189A>G	not provided [RCV001615561]	benign	2	46376026	46376026	Human		name
150435349	CV1221622	single nucleotide variant	NM_001430.5(EPAS1):c.1034+112A>G	not provided [RCV001609310]	benign	2	46375949	46375949	Human		name
150440650	CV1233417	single nucleotide variant	NM_001430.5(EPAS1):c.1035-240A>G	not provided [RCV001645105]	benign	2	46376299	46376299	Human		name
150493209	CV1238624	single nucleotide variant	NM_001430.5(EPAS1):c.1555-285A>G	not provided [RCV001655168]	benign	2	46379942	46379942	Human		name
150506369	CV1242198	single nucleotide variant	NM_001430.5(EPAS1):c.1444-137A>G	not provided [RCV001658551]	benign	2	46378520	46378520	Human		name
150475492	CV1251724	single nucleotide variant	NM_001430.5(EPAS1):c.1034+281A>C	not provided [RCV001671922]	benign	2	46376118	46376118	Human		name
150472730	CV1252292	single nucleotide variant	NM_001430.5(EPAS1):c.2046-193C>G	not provided [RCV001671493]	benign	2	46381403	46381403	Human		name
150449064	CV1253635	single nucleotide variant	NM_001430.5(EPAS1):c.1034+102C>T	not provided [RCV001667563]	benign	2	46375939	46375939	Human		name
150444709	CV1258558	single nucleotide variant	NM_001430.5(EPAS1):c.1444-219C>T	not provided [RCV001679756]	benign	2	46378438	46378438	Human		name
150446549	CV1261380	single nucleotide variant	NM_001430.5(EPAS1):c.2461+229A>T	not provided [RCV001680054]	benign	2	46382827	46382827	Human		name
150443535	CV1277872	single nucleotide variant	NM_001430.5(EPAS1):c.2461+234A>C	not provided [RCV001707015]	benign	2	46382832	46382832	Human		name
150493995	CV1282394	single nucleotide variant	NM_001430.5(EPAS1):c.2462-177G>A	not provided [RCV001717119]	benign	2	46384332	46384332	Human		name
156055285	CV1892010	single nucleotide variant	NM_001430.5(EPAS1):c.1555-121C>T	not provided [RCV003079025]	likely benign	2	46380106	46380106	Human		name
11593888	CV286566	deletion	NM_001430.5(EPAS1):c.539_540del	Familial erythrocytosis [RCV000353138]	benign	2	46385188	46385189	Human	1	name
11645311	CV287275	duplication	NM_001430.5(EPAS1):c.703_706dup	Familial erythrocytosis [RCV000264681]	benign	2	46385361	46385362	Human	1	name
155727053	CV1822401	single nucleotide variant	NM_001430.5(EPAS1):c.6A>C (p.Thr2=)	Inborn genetic diseases [RCV002364762]	likely benign	2	46297917	46297917	Human	1	name
155727058	CV1822403	single nucleotide variant	NM_001430.5(EPAS1):c.6A>G (p.Thr2=)	Inborn genetic diseases [RCV002364764]	likely benign	2	46297917	46297917	Human	1	name
155731426	CV1825953	single nucleotide variant	NM_001430.5(EPAS1):c.9T>G (p.Ala3=)	Inborn genetic diseases [RCV002383170]	likely benign	2	46297920	46297920	Human	1	name
11635388	CV290006	duplication	NM_001430.5(EPAS1):c.218-8_218-7dup	EPAS1-related disorder [RCV003912414]\|Familial erythrocytosis [RCV000337922]	benign\|likely benign	2	46356142	46356143	Human	2	name , alternate_id
405282624	CV3220629	duplication	NM_001430.5(EPAS1):c.218-9_218-8dup	EPAS1-related disorder [RCV003978945]	likely benign	2	46356133	46356134	Human		name , trait , alternate_id
155719521	CV1837381	single nucleotide variant	NM_001430.5(EPAS1):c.15G>A (p.Lys5=)	Inborn genetic diseases [RCV002398668]	likely benign	2	46297926	46297926	Human	1	name
155714108	CV1841784	single nucleotide variant	NM_001430.5(EPAS1):c.24A>G (p.Lys8=)	Inborn genetic diseases [RCV002431064]\|not provided [RCV005058803]	likely benign	2	46297935	46297935	Human	1	name
155689743	CV1850581	single nucleotide variant	NM_001430.5(EPAS1):c.21G>A (p.Lys7=)	Inborn genetic diseases [RCV002425706]	likely benign	2	46297932	46297932	Human	1	name
11597414	CV286576	insertion	NM_001430.5(EPAS1):c.1040_1041insG	Familial erythrocytosis [RCV000393845]	likely benign	2	46385700	46385701	Human	1	name
11598330	CV287198	insertion	NM_001430.5(EPAS1):c.218-9_218-8insT	Familial erythrocytosis [RCV000404095]\|not provided [RCV001653624]	benign	2	46356142	46356143	Human	1	name
402516361	CV2936414	deletion	NM_001430.5(EPAS1):c.218-10_218-8del	not provided [RCV003662980]	benign	2	46356134	46356136	Human		name
155734390	CV1798855	single nucleotide variant	NM_001430.5(EPAS1):c.48G>A (p.Lys16=)	Inborn genetic diseases [RCV002340626]	likely benign	2	46346894	46346894	Human	1	name
155710436	CV1811659	single nucleotide variant	NM_001430.5(EPAS1):c.63T>C (p.Asp21=)	Inborn genetic diseases [RCV002361579]	likely benign	2	46346909	46346909	Human	1	name
155665774	CV1813904	single nucleotide variant	NM_001430.5(EPAS1):c.7G>A (p.Ala3Thr)	Inborn genetic diseases [RCV002419170]	likely benign	2	46297918	46297918	Human	1	name
155710739	CV1817751	single nucleotide variant	NM_001430.5(EPAS1):c.90G>A (p.Glu30=)	Inborn genetic diseases [RCV002378632]	likely benign	2	46346936	46346936	Human	1	name
155669500	CV1822087	single nucleotide variant	NM_001430.5(EPAS1):c.66T>C (p.Ala22=)	Inborn genetic diseases [RCV002367160]	likely benign	2	46346912	46346912	Human	1	name
155727022	CV1822383	single nucleotide variant	NM_001430.5(EPAS1):c.69G>A (p.Ala23=)	Inborn genetic diseases [RCV002364751]	likely benign	2	46346915	46346915	Human	1	name
155729011	CV1823437	single nucleotide variant	NM_001430.5(EPAS1):c.76C>A (p.Arg26=)	Inborn genetic diseases [RCV002400577]	likely benign	2	46346922	46346922	Human	1	name
155690950	CV1825081	single nucleotide variant	NM_001430.5(EPAS1):c.93G>A (p.Thr31=)	Inborn genetic diseases [RCV002373924]\|not provided [RCV003774178]	likely benign	2	46346939	46346939	Human	1	name
155702371	CV1825326	single nucleotide variant	NM_001430.5(EPAS1):c.96G>A (p.Glu32=)	Inborn genetic diseases [RCV002376652]	likely benign	2	46346942	46346942	Human	1	name
329384721	CV2426280	single nucleotide variant	NM_001430.5(EPAS1):c.51G>A (p.Glu17=)	Inborn genetic diseases [RCV003176862]	likely benign	2	46346897	46346897	Human	1	name
329374519	CV2430926	single nucleotide variant	NM_001430.5(EPAS1):c.36G>A (p.Ser12=)	Inborn genetic diseases [RCV003173470]	likely benign	2	46346882	46346882	Human	1	name
329357116	CV2431251	single nucleotide variant	NM_001430.5(EPAS1):c.87G>A (p.Lys29=)	Inborn genetic diseases [RCV003178476]	likely benign	2	46346933	46346933	Human	1	name
401753835	CV2716903	single nucleotide variant	NM_001430.5(EPAS1):c.99G>T (p.Val33=)	Inborn genetic diseases [RCV003296318]	likely benign	2	46346945	46346945	Human	1	name
401878301	CV2790816	single nucleotide variant	NM_001430.5(EPAS1):c.79C>A (p.Arg27=)	Inborn genetic diseases [RCV003384184]	likely benign	2	46346925	46346925	Human	1	name
405286024	CV3209832	insertion	NM_001430.5(EPAS1):c.218-10_218-9insT	EPAS1-related disorder [RCV003959372]	benign	2	46356141	46356142	Human		name , trait , alternate_id
405655350	CV3382973	single nucleotide variant	NM_001430.5(EPAS1):c.42G>A (p.Arg14=)	Inborn genetic diseases [RCV004510975]	likely benign	2	46346888	46346888	Human	1	name
405655370	CV3382981	single nucleotide variant	NM_001430.5(EPAS1):c.54G>A (p.Lys18=)	Inborn genetic diseases [RCV004510983]	likely benign	2	46346900	46346900	Human	1	name
405655410	CV3382997	single nucleotide variant	NM_001430.5(EPAS1):c.78G>A (p.Arg26=)	Inborn genetic diseases [RCV004510999]	likely benign	2	46346924	46346924	Human	1	name
407490609	CV3431389	single nucleotide variant	NM_001430.5(EPAS1):c.36G>T (p.Ser12=)	Inborn genetic diseases [RCV004620259]	likely benign	2	46346882	46346882	Human	1	name
597668418	CV3674499	single nucleotide variant	NM_001430.5(EPAS1):c.70C>A (p.Arg24=)	Inborn genetic diseases [RCV004979875]	likely benign	2	46346916	46346916	Human	1	name
597675136	CV3674559	single nucleotide variant	NM_001430.5(EPAS1):c.45G>A (p.Arg15=)	Inborn genetic diseases [RCV004981886]	likely benign	2	46346891	46346891	Human	1	name
150502479	CV1223228	insertion	NM_001430.5(EPAS1):c.218-11_218-10insT	not provided [RCV001621162]	benign	2	46356140	46356141	Human		name
150446848	CV1250726	insertion	NM_001430.5(EPAS1):c.218-12_218-11insG	not provided [RCV001667231]	benign	2	46356139	46356140	Human		name
155739162	CV1801586	single nucleotide variant	NM_001430.5(EPAS1):c.117T>C (p.His39=)	Inborn genetic diseases [RCV002342505]	likely benign	2	46346963	46346963	Human	1	name
155728182	CV1812911	single nucleotide variant	NM_001430.5(EPAS1):c.123G>T (p.Leu41=)	Inborn genetic diseases [RCV002382605]	likely benign	2	46346969	46346969	Human	1	name
155732788	CV1826494	single nucleotide variant	NM_001430.5(EPAS1):c.135C>T (p.His45=)	Inborn genetic diseases [RCV002383451]	likely benign	2	46346981	46346981	Human	1	name
155684659	CV1827077	single nucleotide variant	NM_001430.5(EPAS1):c.14A>G (p.Lys5Arg)	Inborn genetic diseases [RCV002389888]	uncertain significance	2	46297925	46297925	Human	1	name
155671318	CV1829202	single nucleotide variant	NM_001430.5(EPAS1):c.132C>G (p.Pro44=)	Inborn genetic diseases [RCV002385880]	likely benign	2	46346978	46346978	Human	1	name
155720276	CV1835759	single nucleotide variant	NM_001430.5(EPAS1):c.129G>A (p.Leu43=)	Inborn genetic diseases [RCV002380760]	likely benign	2	46346975	46346975	Human	1	name
155692606	CV1836930	single nucleotide variant	NM_001430.5(EPAS1):c.151C>T (p.Leu51=)	Inborn genetic diseases [RCV002392393]	likely benign	2	46346997	46346997	Human	1	name
155719170	CV1837325	single nucleotide variant	NM_001430.5(EPAS1):c.159G>A (p.Lys53=)	Inborn genetic diseases [RCV002398612]	likely benign	2	46347005	46347005	Human	1	name
155701855	CV1838202	single nucleotide variant	NM_001430.5(EPAS1):c.175C>T (p.Leu59=)	Inborn genetic diseases [RCV002401646]	likely benign	2	46347021	46347021	Human	1	name
155714168	CV1838615	single nucleotide variant	NM_001430.5(EPAS1):c.177G>C (p.Leu59=)	Inborn genetic diseases [RCV002404065]	likely benign	2	46347023	46347023	Human	1	name
155714180	CV1838619	single nucleotide variant	NM_001430.5(EPAS1):c.177G>T (p.Leu59=)	Inborn genetic diseases [RCV002404067]	likely benign	2	46347023	46347023	Human	1	name
155743372	CV1839389	single nucleotide variant	NM_001430.5(EPAS1):c.183C>T (p.Ile61=)	Inborn genetic diseases [RCV002412808]	likely benign	2	46347029	46347029	Human	1	name
155678613	CV1840322	single nucleotide variant	NM_001430.5(EPAS1):c.207C>G (p.Leu69=)	Inborn genetic diseases [RCV002422274]	likely benign	2	46347053	46347053	Human	1	name
155678637	CV1840332	single nucleotide variant	NM_001430.5(EPAS1):c.207C>T (p.Leu69=)	Inborn genetic diseases [RCV002422284]	likely benign	2	46347053	46347053	Human	1	name
155685910	CV1841315	single nucleotide variant	NM_001430.5(EPAS1):c.237C>T (p.Ser79=)	Inborn genetic diseases [RCV002457867]	likely benign	2	46356170	46356170	Human	1	name
155695622	CV1844670	single nucleotide variant	NM_001430.5(EPAS1):c.225T>C (p.Ser75=)	Inborn genetic diseases [RCV002443719]	likely benign	2	46356158	46356158	Human	1	name
155748125	CV1846577	single nucleotide variant	NM_001430.5(EPAS1):c.201C>T (p.His67=)	Inborn genetic diseases [RCV002417454]	likely benign	2	46347047	46347047	Human	1	name
155715480	CV1847677	single nucleotide variant	NM_001430.5(EPAS1):c.231C>T (p.Asn77=)	Inborn genetic diseases [RCV002448106]	likely benign	2	46356164	46356164	Human	1	name
155694542	CV1848118	single nucleotide variant	NM_001430.5(EPAS1):c.243C>T (p.Ala81=)	Inborn genetic diseases [RCV002460006]	likely benign	2	46356176	46356176	Human	1	name
155671540	CV1848593	single nucleotide variant	NM_001430.5(EPAS1):c.255G>A (p.Gln85=)	Inborn genetic diseases [RCV002437080]	likely benign	2	46356188	46356188	Human	1	name
155714780	CV1849267	single nucleotide variant	NM_001430.5(EPAS1):c.270G>A (p.Leu90=)	Inborn genetic diseases [RCV002431182]	likely benign	2	46356203	46356203	Human	1	name
155692912	CV1851207	single nucleotide variant	NM_001430.5(EPAS1):c.240A>G (p.Glu80=)	Inborn genetic diseases [RCV002459711]	likely benign	2	46356173	46356173	Human	1	name
155678605	CV1851710	single nucleotide variant	NM_001430.5(EPAS1):c.252C>T (p.Asp84=)	Inborn genetic diseases [RCV002455719]	likely benign	2	46356185	46356185	Human	1	name
155670284	CV1852048	single nucleotide variant	NM_001430.5(EPAS1):c.264C>T (p.Asp88=)	Inborn genetic diseases [RCV002453044]	likely benign	2	46356197	46356197	Human	1	name
155680040	CV1853149	single nucleotide variant	NM_001430.5(EPAS1):c.276G>A (p.Leu92=)	Inborn genetic diseases [RCV002439600]	likely benign	2	46356209	46356209	Human	1	name
155687495	CV1853647	single nucleotide variant	NM_001430.5(EPAS1):c.294C>T (p.Phe98=)	Inborn genetic diseases [RCV002441842]	likely benign	2	46356227	46356227	Human	1	name
155681892	CV1854618	single nucleotide variant	NM_001430.5(EPAS1):c.291T>A (p.Gly97=)	Inborn genetic diseases [RCV002439951]	likely benign	2	46356224	46356224	Human	1	name
329384103	CV2472653	single nucleotide variant	NM_001430.5(EPAS1):c.138T>C (p.Ser46=)	Inborn genetic diseases [RCV003214025]	likely benign	2	46346984	46346984	Human	1	name
401753877	CV2716917	single nucleotide variant	NM_001430.5(EPAS1):c.282C>T (p.Ala94=)	Inborn genetic diseases [RCV003296332]	likely benign	2	46356215	46356215	Human	1	name
401756714	CV2732054	single nucleotide variant	NM_001430.5(EPAS1):c.172C>A (p.Arg58=)	Inborn genetic diseases [RCV003297433]	likely benign	2	46347018	46347018	Human	1	name
401855505	CV2757362	single nucleotide variant	NM_001430.5(EPAS1):c.162C>T (p.Ala54=)	Inborn genetic diseases [RCV003339397]	likely benign	2	46347008	46347008	Human	1	name
11587532	CV286513	insertion	NM_001430.5(EPAS1):c.218-11_218-10insG	Familial erythrocytosis [RCV000295688]	uncertain significance	2	46356140	46356141	Human	1	name
11595989	CV289540	insertion	NM_001430.5(EPAS1):c.218-14_218-13insG	Familial erythrocytosis [RCV000377026]\|not provided [RCV003422319]	likely benign	2	46356137	46356138	Human	1	name
11635682	CV290004	insertion	NM_001430.5(EPAS1):c.218-10_218-9insTC	Familial erythrocytosis [RCV000380886]	uncertain significance	2	46356140	46356141	Human	1	name
405654976	CV3382837	single nucleotide variant	NM_001430.5(EPAS1):c.102C>T (p.Phe34=)	Inborn genetic diseases [RCV004510841]	likely benign	2	46346948	46346948	Human	1	name
405655162	CV3382892	single nucleotide variant	NM_001430.5(EPAS1):c.16G>A (p.Glu6Lys)	Inborn genetic diseases [RCV004510895]	uncertain significance	2	46297927	46297927	Human	1	name
405655341	CV3382969	single nucleotide variant	NM_001430.5(EPAS1):c.268T>C (p.Leu90=)	Inborn genetic diseases [RCV004510971]	likely benign	2	46356201	46356201	Human	1	name
407490632	CV3431398	single nucleotide variant	NM_001430.5(EPAS1):c.216A>T (p.Ser72=)	Inborn genetic diseases [RCV004620268]	likely benign	2	46347062	46347062	Human	1	name
407490661	CV3431409	single nucleotide variant	NM_001430.5(EPAS1):c.21G>C (p.Lys7Asn)	Inborn genetic diseases [RCV004620279]	uncertain significance	2	46297932	46297932	Human	1	name
407490711	CV3431429	single nucleotide variant	NM_001430.5(EPAS1):c.291T>C (p.Gly97=)	Inborn genetic diseases [RCV004620299]	likely benign	2	46356224	46356224	Human	1	name
407490811	CV3431466	single nucleotide variant	NM_001430.5(EPAS1):c.144C>T (p.Ser48=)	Inborn genetic diseases [RCV004620336]	likely benign	2	46346990	46346990	Human	1	name
597668286	CV3664894	single nucleotide variant	NM_001430.5(EPAS1):c.273C>T (p.Tyr91=)	Inborn genetic diseases [RCV004979853]	likely benign	2	46356206	46356206	Human	1	name
597668308	CV3664898	single nucleotide variant	NM_001430.5(EPAS1):c.127C>T (p.Leu43=)	Inborn genetic diseases [RCV004979857]	likely benign	2	46346973	46346973	Human	1	name
28896010	CV885038	single nucleotide variant	NM_001430.5(EPAS1):c.192G>T (p.Leu64=)	Erythrocytosis, familial, 4 [RCV001141087]\|Inborn genetic diseases [RCV002411644]\|not provided [RCV005056932]	likely benign\|uncertain significance	2	46347038	46347038	Human	2	name
155729511	CV1786253	single nucleotide variant	NM_001430.5(EPAS1):c.354C>T (p.Phe118=)	Inborn genetic diseases [RCV002339731]	likely benign	2	46356287	46356287	Human	1	name
155693537	CV1786962	single nucleotide variant	NM_001430.5(EPAS1):c.387T>C (p.His129=)	Inborn genetic diseases [RCV002357349]	likely benign	2	46356741	46356741	Human	1	name
155701330	CV1788270	single nucleotide variant	NM_001430.5(EPAS1):c.318C>T (p.Gly106=)	Inborn genetic diseases [RCV002322838]	likely benign	2	46356251	46356251	Human	1	name
155719021	CV1788733	single nucleotide variant	NM_001430.5(EPAS1):c.333G>A (p.Leu111=)	Inborn genetic diseases [RCV002326575]	likely benign	2	46356266	46356266	Human	1	name
155690750	CV1789282	single nucleotide variant	NM_001430.5(EPAS1):c.351G>A (p.Lys117=)	Inborn genetic diseases [RCV002459307]	likely benign	2	46356284	46356284	Human	1	name
155701618	CV1791313	single nucleotide variant	NM_001430.5(EPAS1):c.439C>T (p.Leu147=)	Inborn genetic diseases [RCV002333699]	likely benign	2	46356793	46356793	Human	1	name
155703310	CV1791500	single nucleotide variant	NM_001430.5(EPAS1):c.441G>C (p.Leu147=)	Inborn genetic diseases [RCV002333889]	likely benign	2	46356795	46356795	Human	1	name
155694194	CV1791694	single nucleotide variant	NM_001430.5(EPAS1):c.315T>C (p.Asp105=)	Inborn genetic diseases [RCV002320926]	likely benign	2	46356248	46356248	Human	1	name
155673045	CV1792163	single nucleotide variant	NM_001430.5(EPAS1):c.32G>A (p.Ser11Asn)	Inborn genetic diseases [RCV002454684]	uncertain significance	2	46346878	46346878	Human	1	name
155673221	CV1792280	single nucleotide variant	NM_001430.5(EPAS1):c.330T>C (p.Phe110=)	Inborn genetic diseases [RCV002454711]	likely benign	2	46356263	46356263	Human	1	name
155744532	CV1793125	single nucleotide variant	NM_001430.5(EPAS1):c.363T>G (p.Leu121=)	Inborn genetic diseases [RCV002346605]	likely benign	2	46356296	46356296	Human	1	name
155685987	CV1793564	single nucleotide variant	NM_001430.5(EPAS1):c.381A>T (p.Thr127=)	Inborn genetic diseases [RCV002355298]	likely benign	2	46356735	46356735	Human	1	name
155695582	CV1793863	single nucleotide variant	NM_001430.5(EPAS1):c.399C>T (p.Asp133=)	Inborn genetic diseases [RCV002357781]	likely benign	2	46356753	46356753	Human	1	name
155712150	CV1795378	single nucleotide variant	NM_001430.5(EPAS1):c.327C>A (p.Ile109=)	Inborn genetic diseases [RCV002325054]	likely benign	2	46356260	46356260	Human	1	name
155704351	CV1795386	single nucleotide variant	NM_001430.5(EPAS1):c.327C>T (p.Ile109=)	Inborn genetic diseases [RCV002445742]	likely benign	2	46356260	46356260	Human	1	name
155682232	CV1795724	single nucleotide variant	NM_001430.5(EPAS1):c.342C>T (p.Asn114=)	Inborn genetic diseases [RCV002457012]	likely benign	2	46356275	46356275	Human	1	name
155671850	CV1796539	single nucleotide variant	NM_001430.5(EPAS1):c.376C>T (p.Leu126=)	Inborn genetic diseases [RCV002351072]	likely benign	2	46356730	46356730	Human	1	name
155687195	CV1796860	single nucleotide variant	NM_001430.5(EPAS1):c.393C>T (p.Ile131=)	Inborn genetic diseases [RCV002373268]	likely benign	2	46356747	46356747	Human	1	name
155741020	CV1797474	single nucleotide variant	NM_001430.5(EPAS1):c.414C>T (p.Cys138=)	Inborn genetic diseases [RCV002333217]\|not provided [RCV005058356]	likely benign	2	46356768	46356768	Human	1	name
155736293	CV1798664	single nucleotide variant	NM_001430.5(EPAS1):c.468G>A (p.Gly156=)	Inborn genetic diseases [RCV002330561]	likely benign	2	46360651	46360651	Human	1	name
155725668	CV1799584	single nucleotide variant	NM_001430.5(EPAS1):c.519G>A (p.Lys173=)	Inborn genetic diseases [RCV002338579]	likely benign	2	46360702	46360702	Human	1	name
155726047	CV1799628	single nucleotide variant	NM_001430.5(EPAS1):c.51G>T (p.Glu17Asp)	Inborn genetic diseases [RCV002338623]	uncertain significance	2	46346897	46346897	Human	1	name
155668128	CV1799848	single nucleotide variant	NM_001430.5(EPAS1):c.543T>C (p.Arg181=)	Inborn genetic diseases [RCV002349602]	likely benign	2	46360726	46360726	Human	1	name
155746462	CV1800176	single nucleotide variant	NM_001430.5(EPAS1):c.56C>A (p.Ser19Tyr)	Inborn genetic diseases [RCV002347547]	uncertain significance	2	46346902	46346902	Human	1	name
155739359	CV1801677	single nucleotide variant	NM_001430.5(EPAS1):c.462T>C (p.Gly154=)	Inborn genetic diseases [RCV002342565]	likely benign	2	46360645	46360645	Human	1	name
155722570	CV1802652	single nucleotide variant	NM_001430.5(EPAS1):c.513G>A (p.Arg171=)	Inborn genetic diseases [RCV002338201]	likely benign	2	46360696	46360696	Human	1	name
155745251	CV1802735	single nucleotide variant	NM_001430.5(EPAS1):c.534C>T (p.Asn178=)	Inborn genetic diseases [RCV002346943]	likely benign	2	46360717	46360717	Human	1	name
155666881	CV1803102	single nucleotide variant	NM_001430.5(EPAS1):c.540C>G (p.Gly180=)	Inborn genetic diseases [RCV002349403]	likely benign	2	46360723	46360723	Human	1	name
155687484	CV1803638	single nucleotide variant	NM_001430.5(EPAS1):c.591C>T (p.Gly197=)	Inborn genetic diseases [RCV002355792]	likely benign	2	46360902	46360902	Human	1	name
155689370	CV1803983	single nucleotide variant	NM_001430.5(EPAS1):c.597G>C (p.Val199=)	Inborn genetic diseases [RCV002356137]	likely benign	2	46360908	46360908	Human	1	name
155724599	CV1804709	single nucleotide variant	NM_001430.5(EPAS1):c.654G>T (p.Leu218=)	Inborn genetic diseases [RCV002364365]\|not provided [RCV005096954]	likely benign	2	46360965	46360965	Human	1	name
155697743	CV1804851	single nucleotide variant	NM_001430.5(EPAS1):c.657G>A (p.Leu219=)	Inborn genetic diseases [RCV002375782]	likely benign	2	46360968	46360968	Human	1	name
155737351	CV1805629	single nucleotide variant	NM_001430.5(EPAS1):c.483C>T (p.Asp161=)	Inborn genetic diseases [RCV002330780]	likely benign	2	46360666	46360666	Human	1	name
155710768	CV1805853	single nucleotide variant	NM_001430.5(EPAS1):c.504C>T (p.Phe168=)	Inborn genetic diseases [RCV002335715]	likely benign	2	46360687	46360687	Human	1	name
155712072	CV1806051	single nucleotide variant	NM_001430.5(EPAS1):c.507C>T (p.Phe169=)	Inborn genetic diseases [RCV002335880]	likely benign	2	46360690	46360690	Human	1	name
155680765	CV1807286	single nucleotide variant	NM_001430.5(EPAS1):c.588G>A (p.Thr196=)	Inborn genetic diseases [RCV002353575]\|not provided [RCV003730107]	benign\|likely benign	2	46360899	46360899	Human	1	name
155687089	CV1807357	single nucleotide variant	NM_001430.5(EPAS1):c.58C>G (p.Arg20Gly)	Inborn genetic diseases [RCV002355683]	uncertain significance	2	46346904	46346904	Human	1	name
155705985	CV1807455	single nucleotide variant	NM_001430.5(EPAS1):c.612C>T (p.Asn204=)	Inborn genetic diseases [RCV002360322]	likely benign	2	46360923	46360923	Human	1	name
155735121	CV1808724	single nucleotide variant	NM_001430.5(EPAS1):c.453T>C (p.Asn151=)	Inborn genetic diseases [RCV002330321]	likely benign	2	46356807	46356807	Human	1	name
155672570	CV1809180	single nucleotide variant	NM_001430.5(EPAS1):c.495G>A (p.Glu165=)	Inborn genetic diseases [RCV002351331]	likely benign	2	46360678	46360678	Human	1	name
155735546	CV1809915	single nucleotide variant	NM_001430.5(EPAS1):c.525G>C (p.Thr175=)	Inborn genetic diseases [RCV002341008]	likely benign	2	46360708	46360708	Human	1	name
155726136	CV1811861	single nucleotide variant	NM_001430.5(EPAS1):c.65C>T (p.Ala22Val)	Inborn genetic diseases [RCV002364559]	uncertain significance	2	46346911	46346911	Human	1	name
155715580	CV1812290	single nucleotide variant	NM_001430.5(EPAS1):c.690G>A (p.Gln230=)	Inborn genetic diseases [RCV002362340]	likely benign	2	46361001	46361001	Human	1	name
155715917	CV1812419	single nucleotide variant	NM_001430.5(EPAS1):c.693C>T (p.His231=)	Inborn genetic diseases [RCV002362417]	likely benign	2	46361004	46361004	Human	1	name
155698958	CV1813302	single nucleotide variant	NM_001430.5(EPAS1):c.759G>A (p.Lys253=)	Inborn genetic diseases [RCV002394201]	likely benign	2	46361070	46361070	Human	1	name
155708844	CV1813996	single nucleotide variant	NM_001430.5(EPAS1):c.831C>G (p.Ala277=)	Inborn genetic diseases [RCV002430414]	likely benign	2	46369878	46369878	Human	1	name
155682291	CV1814836	single nucleotide variant	NM_001430.5(EPAS1):c.922C>A (p.Arg308=)	Inborn genetic diseases [RCV002371312]	likely benign	2	46375725	46375725	Human	1	name
155683691	CV1815062	single nucleotide variant	NM_001430.5(EPAS1):c.92C>T (p.Thr31Met)	Inborn genetic diseases [RCV002371526]	uncertain significance	2	46346938	46346938	Human	1	name
155671084	CV1815578	single nucleotide variant	NM_001430.5(EPAS1):c.714C>T (p.Pro238=)	Inborn genetic diseases [RCV002367525]	likely benign	2	46361025	46361025	Human	1	name
155688009	CV1816118	single nucleotide variant	NM_001430.5(EPAS1):c.74G>C (p.Cys25Ser)	Inborn genetic diseases [RCV002391617]	uncertain significance	2	46346920	46346920	Human	1	name
155697562	CV1816330	single nucleotide variant	NM_001430.5(EPAS1):c.753C>T (p.Asp251=)	Inborn genetic diseases [RCV002393923]	likely benign	2	46361064	46361064	Human	1	name
155742115	CV1816556	single nucleotide variant	NM_001430.5(EPAS1):c.786A>C (p.Thr262=)	Inborn genetic diseases [RCV002412254]	likely benign	2	46369833	46369833	Human	1	name
155742343	CV1816684	single nucleotide variant	NM_001430.5(EPAS1):c.789A>G (p.Glu263=)	Inborn genetic diseases [RCV002412351]	likely benign	2	46369836	46369836	Human	1	name
155742727	CV1816935	single nucleotide variant	NM_001430.5(EPAS1):c.822C>A (p.Gly274=)	Inborn genetic diseases [RCV002412520]	likely benign	2	46369869	46369869	Human	1	name
155742810	CV1817046	single nucleotide variant	NM_001430.5(EPAS1):c.825C>A (p.Arg275=)	Inborn genetic diseases [RCV002412555]	likely benign	2	46369872	46369872	Human	1	name
155681722	CV1817294	single nucleotide variant	NM_001430.5(EPAS1):c.864C>T (p.Asn288=)	Inborn genetic diseases [RCV002371214]	likely benign	2	46369911	46369911	Human	1	name
155693033	CV1818098	single nucleotide variant	NM_001430.5(EPAS1):c.957G>A (p.Leu319=)	Inborn genetic diseases [RCV002374331]	likely benign	2	46375760	46375760	Human	1	name
155693049	CV1818102	single nucleotide variant	NM_001430.5(EPAS1):c.957G>C (p.Leu319=)	Inborn genetic diseases [RCV002374334]	likely benign	2	46375760	46375760	Human	1	name
155668352	CV1818159	single nucleotide variant	NM_001430.5(EPAS1):c.95A>C (p.Glu32Ala)	Inborn genetic diseases [RCV002385277]	uncertain significance	2	46346941	46346941	Human	1	name
155668866	CV1818278	single nucleotide variant	NM_001430.5(EPAS1):c.963C>G (p.Thr321=)	Inborn genetic diseases [RCV002385358]	likely benign	2	46375766	46375766	Human	1	name
155701493	CV1818387	single nucleotide variant	NM_001430.5(EPAS1):c.966G>A (p.Gln322=)	Inborn genetic diseases [RCV002376538]	likely benign	2	46375769	46375769	Human	1	name
155702110	CV1818507	single nucleotide variant	NM_001430.5(EPAS1):c.969G>T (p.Gly323=)	Inborn genetic diseases [RCV002376621]	likely benign	2	46375772	46375772	Human	1	name
155676767	CV1818736	single nucleotide variant	NM_001430.5(EPAS1):c.678T>C (p.Cys226=)	Inborn genetic diseases [RCV002369414]	likely benign	2	46360989	46360989	Human	1	name
155670015	CV1819086	single nucleotide variant	NM_001430.5(EPAS1):c.708C>T (p.Asp236=)	Inborn genetic diseases [RCV002367266]	likely benign	2	46361019	46361019	Human	1	name
155666515	CV1819536	single nucleotide variant	NM_001430.5(EPAS1):c.741C>T (p.Arg247=)	Inborn genetic diseases [RCV002384966]	likely benign	2	46361052	46361052	Human	1	name
155667320	CV1819672	single nucleotide variant	NM_001430.5(EPAS1):c.744C>T (p.His248=)	Inborn genetic diseases [RCV002385103]\|not provided [RCV003546800]	likely benign	2	46361055	46361055	Human	1	name
155737720	CV1820114	single nucleotide variant	NM_001430.5(EPAS1):c.77G>A (p.Arg26Gln)	Inborn genetic diseases [RCV002409905]	uncertain significance	2	46346923	46346923	Human	1	name
155673659	CV1820295	single nucleotide variant	NM_001430.5(EPAS1):c.813G>A (p.Glu271=)	Inborn genetic diseases [RCV002421364]\|not provided [RCV005058527]	likely benign	2	46369860	46369860	Human	1	name
155714085	CV1820718	single nucleotide variant	NM_001430.5(EPAS1):c.855C>T (p.Asp285=)	Inborn genetic diseases [RCV002447851]	likely benign	2	46369902	46369902	Human	1	name
155714742	CV1820857	single nucleotide variant	NM_001430.5(EPAS1):c.85A>G (p.Lys29Glu)	Inborn genetic diseases [RCV002447972]	uncertain significance	2	46346931	46346931	Human	1	name
155692421	CV1821592	single nucleotide variant	NM_001430.5(EPAS1):c.951G>T (p.Val317=)	Inborn genetic diseases [RCV002374212]	likely benign	2	46375754	46375754	Human	1	name
155668078	CV1821867	single nucleotide variant	NM_001430.5(EPAS1):c.666C>T (p.Leu222=)	Inborn genetic diseases [RCV002366939]	likely benign	2	46360977	46360977	Human	1	name
155698571	CV1822210	single nucleotide variant	NM_001430.5(EPAS1):c.672C>T (p.Ile224=)	Inborn genetic diseases [RCV002375935]	likely benign	2	46360983	46360983	Human	1	name
155726872	CV1822324	single nucleotide variant	NM_001430.5(EPAS1):c.699C>T (p.Ser233=)	Inborn genetic diseases [RCV002364706]	likely benign	2	46361010	46361010	Human	1	name
155727527	CV1822583	single nucleotide variant	NM_001430.5(EPAS1):c.702C>T (p.His234=)	Inborn genetic diseases [RCV002364915]	likely benign	2	46361013	46361013	Human	1	name
155717681	CV1823020	single nucleotide variant	NM_001430.5(EPAS1):c.735G>A (p.Leu245=)	Inborn genetic diseases [RCV002380299]	likely benign	2	46361046	46361046	Human	1	name
155708303	CV1823238	single nucleotide variant	NM_001430.5(EPAS1):c.765C>A (p.Thr255=)	Inborn genetic diseases [RCV002396420]	likely benign	2	46361076	46361076	Human	1	name
155729031	CV1823442	single nucleotide variant	NM_001430.5(EPAS1):c.76C>T (p.Arg26Trp)	Inborn genetic diseases [RCV002400582]	uncertain significance	2	46346922	46346922	Human	1	name
155742559	CV1823735	single nucleotide variant	NM_001430.5(EPAS1):c.804C>T (p.His268=)	Inborn genetic diseases [RCV002412450]	likely benign	2	46369851	46369851	Human	1	name
155742644	CV1823851	single nucleotide variant	NM_001430.5(EPAS1):c.807T>C (p.Pro269=)	Inborn genetic diseases [RCV002412484]	likely benign	2	46369854	46369854	Human	1	name
155667895	CV1823938	single nucleotide variant	NM_001430.5(EPAS1):c.80G>A (p.Arg27Gln)	Inborn genetic diseases [RCV002419481]	uncertain significance	2	46346926	46346926	Human	1	name
155744699	CV1824332	single nucleotide variant	NM_001430.5(EPAS1):c.849G>A (p.Ala283=)	Inborn genetic diseases [RCV002414397]\|not provided [RCV005097250]	likely benign	2	46369896	46369896	Human	1	name
155712968	CV1824351	single nucleotide variant	NM_001430.5(EPAS1):c.84C>G (p.Ser28Arg)	Inborn genetic diseases [RCV002447703]	uncertain significance	2	46346930	46346930	Human	1	name
155684626	CV1824951	single nucleotide variant	NM_001430.5(EPAS1):c.936G>A (p.Lys312=)	Inborn genetic diseases [RCV002371727]	likely benign	2	46375739	46375739	Human	1	name
155694369	CV1825180	single nucleotide variant	NM_001430.5(EPAS1):c.942G>C (p.Gly314=)	Inborn genetic diseases [RCV002443423]	likely benign	2	46375745	46375745	Human	1	name
155683925	CV1825250	single nucleotide variant	NM_001430.5(EPAS1):c.930C>T (p.Leu310=)	Inborn genetic diseases [RCV002371562]	likely benign	2	46375733	46375733	Human	1	name
155672966	CV1825445	single nucleotide variant	NM_001430.5(EPAS1):c.972G>A (p.Thr324=)	Inborn genetic diseases [RCV002387058]\|not provided [RCV003408259]	likely benign	2	46375775	46375775	Human	1	name
155673321	CV1825532	single nucleotide variant	NM_001430.5(EPAS1):c.975C>T (p.Val325=)	Inborn genetic diseases [RCV002387114]	likely benign	2	46375778	46375778	Human	1	name
155673776	CV1825630	single nucleotide variant	NM_001430.5(EPAS1):c.978C>T (p.Ile326=)	Inborn genetic diseases [RCV002387191]\|not provided [RCV005058578]	likely benign	2	46375781	46375781	Human	1	name
155730311	CV1825767	single nucleotide variant	NM_001430.5(EPAS1):c.996G>A (p.Leu332=)	Inborn genetic diseases [RCV002382984]	likely benign	2	46375799	46375799	Human	1	name
155703784	CV1828721	single nucleotide variant	NM_001430.5(EPAS1):c.981C>T (p.Tyr327=)	Inborn genetic diseases [RCV002376834]	likely benign	2	46375784	46375784	Human	1	name
155674397	CV1828790	single nucleotide variant	NM_001430.5(EPAS1):c.984C>T (p.Asn328=)	Inborn genetic diseases [RCV002387288]	likely benign	2	46375787	46375787	Human	1	name
155696775	CV1854750	single nucleotide variant	NM_001430.5(EPAS1):c.303G>A (p.Val101=)	Inborn genetic diseases [RCV002443987]	likely benign	2	46356236	46356236	Human	1	name
155698546	CV1855085	single nucleotide variant	NM_001430.5(EPAS1):c.306G>A (p.Val102=)	Inborn genetic diseases [RCV002444324]	likely benign	2	46356239	46356239	Human	1	name
155667848	CV1856055	single nucleotide variant	NM_001430.5(EPAS1):c.300C>T (p.Ala100=)	Inborn genetic diseases [RCV002435757]	likely benign	2	46356233	46356233	Human	1	name
329374632	CV2430966	single nucleotide variant	NM_001430.5(EPAS1):c.309C>T (p.Thr103=)	Inborn genetic diseases [RCV003173510]	likely benign	2	46356242	46356242	Human	1	name
329374771	CV2431040	single nucleotide variant	NM_001430.5(EPAS1):c.790C>T (p.Leu264=)	Inborn genetic diseases [RCV003173584]	likely benign	2	46369837	46369837	Human	1	name
329374799	CV2431050	single nucleotide variant	NM_001430.5(EPAS1):c.642C>T (p.Tyr214=)	Inborn genetic diseases [RCV003173594]	likely benign	2	46360953	46360953	Human	1	name
329374824	CV2431060	single nucleotide variant	NM_001430.5(EPAS1):c.846T>C (p.His282=)	Inborn genetic diseases [RCV003173604]	likely benign	2	46369893	46369893	Human	1	name
329375042	CV2431114	single nucleotide variant	NM_001430.5(EPAS1):c.603C>G (p.Val201=)	Inborn genetic diseases [RCV003173658]\|not provided [RCV005101212]	likely benign	2	46360914	46360914	Human	1	name
329357049	CV2431232	single nucleotide variant	NM_001430.5(EPAS1):c.552C>T (p.Asn184=)	Inborn genetic diseases [RCV003178457]	likely benign	2	46360735	46360735	Human	1	name
329374194	CV2434731	single nucleotide variant	NM_001430.5(EPAS1):c.35C>T (p.Ser12Leu)	Inborn genetic diseases [RCV003173356]\|not provided [RCV005101209]	likely benign	2	46346881	46346881	Human	1	name
329384051	CV2472637	single nucleotide variant	NM_001430.5(EPAS1):c.891C>T (p.Cys297=)	Inborn genetic diseases [RCV003214009]	likely benign	2	46375694	46375694	Human	1	name
329384062	CV2472641	single nucleotide variant	NM_001430.5(EPAS1):c.555C>G (p.Leu185=)	Inborn genetic diseases [RCV003214013]	likely benign	2	46360738	46360738	Human	1	name
329384094	CV2472650	single nucleotide variant	NM_001430.5(EPAS1):c.372G>T (p.Val124=)	Inborn genetic diseases [RCV003214022]	likely benign	2	46356726	46356726	Human	1	name
329384124	CV2472660	single nucleotide variant	NM_001430.5(EPAS1):c.576C>G (p.Val192=)	Inborn genetic diseases [RCV003214032]	likely benign	2	46360887	46360887	Human	1	name
401753880	CV2716918	single nucleotide variant	NM_001430.5(EPAS1):c.879C>T (p.His293=)	Inborn genetic diseases [RCV003296333]	likely benign	2	46369926	46369926	Human	1	name
401756656	CV2732024	single nucleotide variant	NM_001430.5(EPAS1):c.885C>T (p.Asn295=)	Inborn genetic diseases [RCV003297403]	likely benign	2	46369932	46369932	Human	1	name
401756666	CV2732029	single nucleotide variant	NM_001430.5(EPAS1):c.828A>G (p.Ser276=)	Inborn genetic diseases [RCV003297408]	likely benign	2	46369875	46369875	Human	1	name
401756696	CV2732045	single nucleotide variant	NM_001430.5(EPAS1):c.498G>A (p.Arg166=)	Inborn genetic diseases [RCV003297424]	likely benign	2	46360681	46360681	Human	1	name
401756645	CV2734199	single nucleotide variant	NM_001430.5(EPAS1):c.411C>T (p.Pro137=)	Inborn genetic diseases [RCV003297397]	likely benign	2	46356765	46356765	Human	1	name
401878311	CV2790821	single nucleotide variant	NM_001430.5(EPAS1):c.312A>G (p.Gln104=)	Inborn genetic diseases [RCV003384189]	likely benign	2	46356245	46356245	Human	1	name
401878325	CV2790829	single nucleotide variant	NM_001430.5(EPAS1):c.58C>T (p.Arg20Trp)	Inborn genetic diseases [RCV003384197]	uncertain significance	2	46346904	46346904	Human	1	name
401878346	CV2790840	single nucleotide variant	NM_001430.5(EPAS1):c.633G>A (p.Leu211=)	Inborn genetic diseases [RCV003384208]	likely benign	2	46360944	46360944	Human	1	name
401885957	CV2793729	single nucleotide variant	NM_001430.5(EPAS1):c.801C>T (p.Tyr267=)	Inborn genetic diseases [RCV003386951]	likely benign	2	46369848	46369848	Human	1	name
401885974	CV2793735	single nucleotide variant	NM_001430.5(EPAS1):c.522C>T (p.Cys174=)	Inborn genetic diseases [RCV003386957]	likely benign	2	46360705	46360705	Human	1	name
11594427	CV286529	single nucleotide variant	NM_001430.5(EPAS1):c.768C>T (p.Tyr256=)	Erythrocytosis, familial, 4 [RCV000359121]\|Inborn genetic diseases [RCV002402064]\|not provided [RCV005090526]	benign\|likely benign	2	46361079	46361079	Human	2	name
11592019	CV289558	single nucleotide variant	NM_001430.5(EPAS1):c.525G>A (p.Thr175=)	Erythrocytosis, familial, 4 [RCV000334564]\|Inborn genetic diseases [RCV002338936]\|not provided [RCV003546536]	benign\|likely benign	2	46360708	46360708	Human	2	name
11595039	CV289563	single nucleotide variant	NM_001430.5(EPAS1):c.858C>T (p.Ser286=)	Erythrocytosis, familial, 4 [RCV000366181]\|Inborn genetic diseases [RCV002446595]\|not provided [RCV005090527]	benign\|likely benign	2	46369905	46369905	Human	2	name
11646182	CV290013	single nucleotide variant	NM_001430.5(EPAS1):c.861G>A (p.Glu287=)	Erythrocytosis, familial, 4 [RCV000269176]	uncertain significance	2	46369908	46369908	Human	1	name
405655344	CV3382970	single nucleotide variant	NM_001430.5(EPAS1):c.28A>T (p.Ser10Cys)	Inborn genetic diseases [RCV004510972]	uncertain significance	2	46346874	46346874	Human	1	name
405655346	CV3382971	single nucleotide variant	NM_001430.5(EPAS1):c.309C>G (p.Thr103=)	Inborn genetic diseases [RCV004510973]	likely benign	2	46356242	46356242	Human	1	name
405655354	CV3382974	single nucleotide variant	NM_001430.5(EPAS1):c.42G>C (p.Arg14Ser)	Inborn genetic diseases [RCV004510976]	uncertain significance	2	46346888	46346888	Human	1	name
405655377	CV3382984	single nucleotide variant	NM_001430.5(EPAS1):c.567C>T (p.Thr189=)	Inborn genetic diseases [RCV004510986]	likely benign	2	46360750	46360750	Human	1	name
405655384	CV3382987	single nucleotide variant	NM_001430.5(EPAS1):c.652C>T (p.Leu218=)	Inborn genetic diseases [RCV004510989]	likely benign	2	46360963	46360963	Human	1	name
405655407	CV3382996	single nucleotide variant	NM_001430.5(EPAS1):c.771T>C (p.Cys257=)	Inborn genetic diseases [RCV004510998]	likely benign	2	46361082	46361082	Human	1	name
405655429	CV3383005	single nucleotide variant	NM_001430.5(EPAS1):c.930C>G (p.Leu310=)	Inborn genetic diseases [RCV004511007]	likely benign	2	46375733	46375733	Human	1	name
405655436	CV3383008	single nucleotide variant	NM_001430.5(EPAS1):c.990C>A (p.Arg330=)	Inborn genetic diseases [RCV004511010]	likely benign	2	46375793	46375793	Human	1	name
407490596	CV3431384	single nucleotide variant	NM_001430.5(EPAS1):c.492A>G (p.Thr164=)	Inborn genetic diseases [RCV004620254]	likely benign	2	46360675	46360675	Human	1	name
407490602	CV3431386	single nucleotide variant	NM_001430.5(EPAS1):c.321C>T (p.Asp107=)	Inborn genetic diseases [RCV004620256]	likely benign	2	46356254	46356254	Human	1	name
407490683	CV3431417	single nucleotide variant	NM_001430.5(EPAS1):c.798T>A (p.Gly266=)	Inborn genetic diseases [RCV004620287]	likely benign	2	46369845	46369845	Human	1	name
407490717	CV3431431	single nucleotide variant	NM_001430.5(EPAS1):c.915C>T (p.Gly305=)	Inborn genetic diseases [RCV004620301]	likely benign	2	46375718	46375718	Human	1	name
407490729	CV3431436	single nucleotide variant	NM_001430.5(EPAS1):c.894C>T (p.Thr298=)	Inborn genetic diseases [RCV004620306]	likely benign	2	46375697	46375697	Human	1	name
407490775	CV3431455	single nucleotide variant	NM_001430.5(EPAS1):c.29G>A (p.Ser10Asn)	Inborn genetic diseases [RCV004620325]	uncertain significance	2	46346875	46346875	Human	1	name
407490782	CV3431457	single nucleotide variant	NM_001430.5(EPAS1):c.546T>G (p.Thr182=)	Inborn genetic diseases [RCV004620327]	likely benign	2	46360729	46360729	Human	1	name
407490802	CV3431463	single nucleotide variant	NM_001430.5(EPAS1):c.339A>G (p.Glu113=)	Inborn genetic diseases [RCV004620333]	likely benign	2	46356272	46356272	Human	1	name
407490825	CV3431471	single nucleotide variant	NM_001430.5(EPAS1):c.402C>T (p.Phe134=)	Inborn genetic diseases [RCV004620341]	likely benign	2	46356756	46356756	Human	1	name
407490829	CV3431473	single nucleotide variant	NM_001430.5(EPAS1):c.639C>T (p.Gly213=)	Inborn genetic diseases [RCV004620343]	likely benign	2	46360950	46360950	Human	1	name
407490574	CV3435268	single nucleotide variant	NM_001430.5(EPAS1):c.852A>G (p.Leu284=)	Inborn genetic diseases [RCV004620245]	likely benign	2	46369899	46369899	Human	1	name
407490582	CV3435271	single nucleotide variant	NM_001430.5(EPAS1):c.68C>T (p.Ala23Val)	Inborn genetic diseases [RCV004620248]	uncertain significance	2	46346914	46346914	Human	1	name
597668293	CV3664895	single nucleotide variant	NM_001430.5(EPAS1):c.73T>C (p.Cys25Arg)	Inborn genetic diseases [RCV004979854]	uncertain significance	2	46346919	46346919	Human	1	name
597668381	CV3664910	single nucleotide variant	NM_001430.5(EPAS1):c.79C>T (p.Arg27Trp)	Inborn genetic diseases [RCV004979869]	uncertain significance	2	46346925	46346925	Human	1	name
597674757	CV3674508	single nucleotide variant	NM_001430.5(EPAS1):c.987T>A (p.Pro329=)	Inborn genetic diseases [RCV004981836]	likely benign	2	46375790	46375790	Human	1	name
597674780	CV3674511	single nucleotide variant	NM_001430.5(EPAS1):c.555C>T (p.Leu185=)	Inborn genetic diseases [RCV004981839]	likely benign	2	46360738	46360738	Human	1	name
597674808	CV3674515	single nucleotide variant	NM_001430.5(EPAS1):c.669C>T (p.Ile223=)	Inborn genetic diseases [RCV004981843]	likely benign	2	46360980	46360980	Human	1	name
597674832	CV3674518	single nucleotide variant	NM_001430.5(EPAS1):c.942G>T (p.Gly314=)	Inborn genetic diseases [RCV004981846]	likely benign	2	46375745	46375745	Human	1	name
597674901	CV3674526	single nucleotide variant	NM_001430.5(EPAS1):c.303G>C (p.Val101=)	Inborn genetic diseases [RCV004981854]	likely benign	2	46356236	46356236	Human	1	name
597675271	CV3674576	single nucleotide variant	NM_001430.5(EPAS1):c.681A>G (p.Glu227=)	Inborn genetic diseases [RCV004981903]	likely benign	2	46360992	46360992	Human	1	name
597675277	CV3674578	single nucleotide variant	NM_001430.5(EPAS1):c.774T>C (p.Asp258=)	Inborn genetic diseases [RCV004981905]	likely benign	2	46361085	46361085	Human	1	name
598270830	CV3954535	single nucleotide variant	NM_001430.5(EPAS1):c.35C>G (p.Ser12Trp)	Inborn genetic diseases [RCV005327611]	uncertain significance	2	46346881	46346881	Human	1	name
15115355	CV781354	single nucleotide variant	NM_001430.5(EPAS1):c.948C>T (p.Tyr316=)	Inborn genetic diseases [RCV002372686]\|not provided [RCV000978387]	likely benign	2	46375751	46375751	Human	1	name
28896006	CV885037	single nucleotide variant	NM_001430.5(EPAS1):c.41G>A (p.Arg14Lys)	Erythrocytosis, familial, 4 [RCV001141086]\|Inborn genetic diseases [RCV002327408]\|not provided [RCV003558709]	benign\|likely benign	2	46346887	46346887	Human	2	name
28900870	CV885040	single nucleotide variant	NM_001430.5(EPAS1):c.345C>T (p.Ile115=)	Erythrocytosis, familial, 4 [RCV001142941]\|Inborn genetic diseases [RCV002451339]	benign\|likely benign	2	46356278	46356278	Human	2	name
28887831	CV885042	single nucleotide variant	NM_001430.5(EPAS1):c.591C>A (p.Gly197=)	Erythrocytosis, familial, 4 [RCV001138205]\|Inborn genetic diseases [RCV002355120]	likely benign\|uncertain significance	2	46360902	46360902	Human	2	name
28889196	CV885044	single nucleotide variant	NM_001430.5(EPAS1):c.993C>T (p.Asn331=)	Erythrocytosis, familial, 4 [RCV001138627]\|Inborn genetic diseases [RCV002379657]\|not provided [RCV005093613]	benign\|likely benign	2	46375796	46375796	Human	2	name
155664888	CV1787124	single nucleotide variant	NM_001430.5(EPAS1):c.1158T>C (p.Ser386=)	Inborn genetic diseases [RCV002366382]	likely benign	2	46376662	46376662	Human	1	name
155704639	CV1787632	single nucleotide variant	NM_001430.5(EPAS1):c.1164C>T (p.Phe388=)	Inborn genetic diseases [RCV002323259]	likely benign	2	46376668	46376668	Human	1	name
155741594	CV1791126	single nucleotide variant	NM_001430.5(EPAS1):c.1173C>G (p.Thr391=)	Inborn genetic diseases [RCV002333512]	likely benign	2	46376677	46376677	Human	1	name
155696852	CV1793884	single nucleotide variant	NM_001430.5(EPAS1):c.1161C>T (p.Asn387=)	Inborn genetic diseases [RCV002375618]	likely benign	2	46376665	46376665	Human	1	name
155665032	CV1795559	single nucleotide variant	NM_001430.5(EPAS1):c.1140G>A (p.Gly380=)	Inborn genetic diseases [RCV002452172]	likely benign	2	46376644	46376644	Human	1	name
155665242	CV1795603	single nucleotide variant	NM_001430.5(EPAS1):c.1140G>T (p.Gly380=)	Inborn genetic diseases [RCV002452210]	likely benign	2	46376644	46376644	Human	1	name
155734925	CV1797826	single nucleotide variant	NM_001430.5(EPAS1):c.1170C>T (p.Phe390=)	Inborn genetic diseases [RCV002330232]	likely benign	2	46376674	46376674	Human	1	name
155736432	CV1798782	single nucleotide variant	NM_001430.5(EPAS1):c.1182G>A (p.Lys394=)	Inborn genetic diseases [RCV002330594]	likely benign	2	46376686	46376686	Human	1	name
155672229	CV1798970	single nucleotide variant	NM_001430.5(EPAS1):c.1188G>A (p.Glu396=)	Inborn genetic diseases [RCV002351230]	likely benign	2	46376692	46376692	Human	1	name
155732158	CV1804863	single nucleotide variant	NM_001430.5(EPAS1):c.1179A>G (p.Leu393=)	Inborn genetic diseases [RCV002340156]	likely benign	2	46376683	46376683	Human	1	name
155710178	CV1805768	single nucleotide variant	NM_001430.5(EPAS1):c.1191C>A (p.Pro397=)	Inborn genetic diseases [RCV002335643]	likely benign	2	46376695	46376695	Human	1	name
155673054	CV1805790	single nucleotide variant	NM_001430.5(EPAS1):c.1191C>G (p.Pro397=)	Inborn genetic diseases [RCV002351417]	likely benign	2	46376695	46376695	Human	1	name
155665063	CV1807817	single nucleotide variant	NM_001430.5(EPAS1):c.1218C>A (p.Thr406=)	Inborn genetic diseases [RCV002366422]	likely benign	2	46376722	46376722	Human	1	name
155675445	CV1810293	single nucleotide variant	NM_001430.5(EPAS1):c.1203C>T (p.Ala401=)	Inborn genetic diseases [RCV002351794]	likely benign	2	46376707	46376707	Human	1	name
155703476	CV1810542	single nucleotide variant	NM_001430.5(EPAS1):c.1209G>T (p.Leu403=)	Inborn genetic diseases [RCV002359730]	likely benign	2	46376713	46376713	Human	1	name
155704797	CV1811024	single nucleotide variant	NM_001430.5(EPAS1):c.1215C>T (p.Pro405=)	Inborn genetic diseases [RCV002359951]	likely benign	2	46376719	46376719	Human	1	name
155698256	CV1811951	single nucleotide variant	NM_001430.5(EPAS1):c.1227C>T (p.Asp409=)	Inborn genetic diseases [RCV002375874]\|not provided [RCV005058471]	likely benign	2	46376731	46376731	Human	1	name
155680325	CV1815924	single nucleotide variant	NM_001430.5(EPAS1):c.1239T>A (p.Ser413=)	Inborn genetic diseases [RCV002370920]	likely benign	2	46376743	46376743	Human	1	name
155668292	CV1818145	single nucleotide variant	NM_001430.5(EPAS1):c.127C>G (p.Leu43Val)	Erythrocytosis, familial, 4 [RCV005397408]\|Inborn genetic diseases [RCV002385266]\|not provided [RCV005058574]	uncertain significance	2	46346973	46346973	Human	2	name
155706641	CV1818580	single nucleotide variant	NM_001430.5(EPAS1):c.122T>G (p.Leu41Arg)	Inborn genetic diseases [RCV002377975]	uncertain significance	2	46346968	46346968	Human	1	name
155676284	CV1818659	single nucleotide variant	NM_001430.5(EPAS1):c.1230C>G (p.Ala410=)	Inborn genetic diseases [RCV002369337]	likely benign	2	46376734	46376734	Human	1	name
155676586	CV1818705	single nucleotide variant	NM_001430.5(EPAS1):c.1230C>T (p.Ala410=)	Inborn genetic diseases [RCV002369383]	likely benign	2	46376734	46376734	Human	1	name
155673477	CV1820268	single nucleotide variant	NM_001430.5(EPAS1):c.1257G>A (p.Gln419=)	Inborn genetic diseases [RCV002421337]	likely benign	2	46377901	46377901	Human	1	name
155710175	CV1821312	single nucleotide variant	NM_001430.5(EPAS1):c.1272C>A (p.Ser424=)	Inborn genetic diseases [RCV002378557]	likely benign	2	46377916	46377916	Human	1	name
155722146	CV1821772	single nucleotide variant	NM_001430.5(EPAS1):c.1026C>T (p.Tyr342=)	Inborn genetic diseases [RCV002381033]	likely benign	2	46375829	46375829	Human	1	name
155717311	CV1822933	single nucleotide variant	NM_001430.5(EPAS1):c.1020C>T (p.Val340=)	Inborn genetic diseases [RCV002380212]	likely benign	2	46375823	46375823	Human	1	name
155731608	CV1825995	single nucleotide variant	NM_001430.5(EPAS1):c.1287G>A (p.Lys429=)	Inborn genetic diseases [RCV002383212]	likely benign	2	46377931	46377931	Human	1	name
155718815	CV1826089	single nucleotide variant	NM_001430.5(EPAS1):c.1290C>T (p.Ala430=)	Inborn genetic diseases [RCV002380528]	likely benign	2	46377934	46377934	Human	1	name
155719217	CV1826149	single nucleotide variant	NM_001430.5(EPAS1):c.1293C>A (p.Ile431=)	Inborn genetic diseases [RCV002380588]	likely benign	2	46377937	46377937	Human	1	name
155677656	CV1826200	single nucleotide variant	NM_001430.5(EPAS1):c.1347C>T (p.Ser449=)	Inborn genetic diseases [RCV002387846]	likely benign	2	46377991	46377991	Human	1	name
155678041	CV1826294	single nucleotide variant	NM_001430.5(EPAS1):c.1350G>A (p.Glu450=)	Inborn genetic diseases [RCV002387940]	likely benign	2	46377994	46377994	Human	1	name
155689509	CV1826696	single nucleotide variant	NM_001430.5(EPAS1):c.1422C>T (p.Ser474=)	Inborn genetic diseases [RCV002391846]	likely benign	2	46378066	46378066	Human	1	name
155685155	CV1827242	single nucleotide variant	NM_001430.5(EPAS1):c.1509G>A (p.Lys503=)	Inborn genetic diseases [RCV002390053]	likely benign	2	46378722	46378722	Human	1	name
155691740	CV1827341	single nucleotide variant	NM_001430.5(EPAS1):c.1512C>G (p.Leu504=)	Inborn genetic diseases [RCV002392237]	likely benign	2	46378725	46378725	Human	1	name
155692099	CV1827405	single nucleotide variant	NM_001430.5(EPAS1):c.1515C>T (p.Phe505=)	Inborn genetic diseases [RCV002392301]\|not provided [RCV005097561]	likely benign	2	46378728	46378728	Human	1	name
155717465	CV1827563	single nucleotide variant	NM_001430.5(EPAS1):c.1584A>C (p.Thr528=)	Inborn genetic diseases [RCV002398280]	likely benign	2	46380256	46380256	Human	1	name
155717467	CV1827564	single nucleotide variant	NM_001430.5(EPAS1):c.1584A>G (p.Thr528=)	Inborn genetic diseases [RCV002398281]	likely benign	2	46380256	46380256	Human	1	name
155718400	CV1827761	single nucleotide variant	NM_001430.5(EPAS1):c.1593C>T (p.Pro531=)	Inborn genetic diseases [RCV002398478]	likely benign	2	46380265	46380265	Human	1	name
155718698	CV1827817	single nucleotide variant	NM_001430.5(EPAS1):c.1596T>C (p.Tyr532=)	Inborn genetic diseases [RCV002398535]\|not provided [RCV003408269]	likely benign	2	46380268	46380268	Human	1	name
155718947	CV1827858	single nucleotide variant	NM_001430.5(EPAS1):c.1599C>T (p.Ile533=)	Inborn genetic diseases [RCV002398576]	likely benign	2	46380271	46380271	Human	1	name
155711900	CV1827916	single nucleotide variant	NM_001430.5(EPAS1):c.1659G>A (p.Ala553=)	Inborn genetic diseases [RCV002403776]	likely benign	2	46380331	46380331	Human	1	name
155711925	CV1827919	single nucleotide variant	NM_001430.5(EPAS1):c.1659G>C (p.Ala553=)	Inborn genetic diseases [RCV002403779]	likely benign	2	46380331	46380331	Human	1	name
155704599	CV1828020	single nucleotide variant	NM_001430.5(EPAS1):c.1662G>A (p.Glu554=)	Inborn genetic diseases [RCV002395103]	likely benign	2	46380334	46380334	Human	1	name
155704655	CV1828064	single nucleotide variant	NM_001430.5(EPAS1):c.1665C>T (p.Asn555=)	Inborn genetic diseases [RCV002395113]	likely benign	2	46380337	46380337	Human	1	name
155713141	CV1828105	single nucleotide variant	NM_001430.5(EPAS1):c.1668A>G (p.Pro556=)	Inborn genetic diseases [RCV002403925]	likely benign	2	46380340	46380340	Human	1	name
155722301	CV1828261	single nucleotide variant	NM_001430.5(EPAS1):c.1674C>T (p.Ser558=)	Inborn genetic diseases [RCV002405918]	likely benign	2	46380346	46380346	Human	1	name
155722642	CV1828311	single nucleotide variant	NM_001430.5(EPAS1):c.1677C>A (p.Thr559=)	Inborn genetic diseases [RCV002405957]	likely benign	2	46380349	46380349	Human	1	name
155722678	CV1828316	single nucleotide variant	NM_001430.5(EPAS1):c.1677C>T (p.Thr559=)	Inborn genetic diseases [RCV002405961]	likely benign	2	46380349	46380349	Human	1	name
155744936	CV1828323	single nucleotide variant	NM_001430.5(EPAS1):c.1053C>T (p.Asp351=)	Inborn genetic diseases [RCV002414516]\|not provided [RCV005058673]	likely benign	2	46376557	46376557	Human	1	name
155730136	CV1828403	single nucleotide variant	NM_001430.5(EPAS1):c.1740C>T (p.His580=)	Inborn genetic diseases [RCV002407486]	likely benign	2	46380412	46380412	Human	1	name
155700829	CV1828511	single nucleotide variant	NM_001430.5(EPAS1):c.1746C>T (p.Pro582=)	Inborn genetic diseases [RCV002401495]	likely benign	2	46380418	46380418	Human	1	name
155701306	CV1828629	single nucleotide variant	NM_001430.5(EPAS1):c.1752C>G (p.Leu584=)	Inborn genetic diseases [RCV002401582]\|not provided [RCV003774487]	likely benign	2	46380424	46380424	Human	1	name
155701504	CV1828679	single nucleotide variant	NM_001430.5(EPAS1):c.1755G>A (p.Leu585=)	Inborn genetic diseases [RCV002401606]	likely benign	2	46380427	46380427	Human	1	name
155671293	CV1829189	single nucleotide variant	NM_001430.5(EPAS1):c.1329G>A (p.Arg443=)	Inborn genetic diseases [RCV002385867]	likely benign	2	46377973	46377973	Human	1	name
155676258	CV1829332	single nucleotide variant	NM_001430.5(EPAS1):c.1335C>T (p.His445=)	Inborn genetic diseases [RCV002387575]	likely benign	2	46377979	46377979	Human	1	name
155681040	CV1829621	single nucleotide variant	NM_001430.5(EPAS1):c.1401C>T (p.Ser467=)	Inborn genetic diseases [RCV002389286]	likely benign	2	46378045	46378045	Human	1	name
155681408	CV1829683	single nucleotide variant	NM_001430.5(EPAS1):c.1404C>A (p.Thr468=)	Inborn genetic diseases [RCV002389348]	likely benign	2	46378048	46378048	Human	1	name
155681703	CV1829728	single nucleotide variant	NM_001430.5(EPAS1):c.1407C>G (p.Thr469=)	Inborn genetic diseases [RCV002389393]	likely benign	2	46378051	46378051	Human	1	name
155682274	CV1829815	single nucleotide variant	NM_001430.5(EPAS1):c.140T>G (p.Val47Gly)	Inborn genetic diseases [RCV002389480]	uncertain significance	2	46346986	46346986	Human	1	name
155688487	CV1829947	single nucleotide variant	NM_001430.5(EPAS1):c.1416C>T (p.Ala472=)	Inborn genetic diseases [RCV002391698]	likely benign	2	46378060	46378060	Human	1	name
155713954	CV1830100	single nucleotide variant	NM_001430.5(EPAS1):c.1482C>T (p.Asn494=)	Inborn genetic diseases [RCV002397168]\|not provided [RCV003427468]	likely benign	2	46378695	46378695	Human	1	name
155682869	CV1830157	single nucleotide variant	NM_001430.5(EPAS1):c.1485C>T (p.Asp495=)	Inborn genetic diseases [RCV002389568]	likely benign	2	46378698	46378698	Human	1	name
155683056	CV1830178	single nucleotide variant	NM_001430.5(EPAS1):c.1486C>T (p.Leu496=)	Inborn genetic diseases [RCV002389589]	likely benign	2	46378699	46378699	Human	1	name
155683384	CV1830223	single nucleotide variant	NM_001430.5(EPAS1):c.1488G>A (p.Leu496=)	Inborn genetic diseases [RCV002389634]	likely benign	2	46378701	46378701	Human	1	name
155683401	CV1830226	single nucleotide variant	NM_001430.5(EPAS1):c.1488G>T (p.Leu496=)	Inborn genetic diseases [RCV002389637]\|not provided [RCV005058632]	likely benign	2	46378701	46378701	Human	1	name
155684013	CV1830325	single nucleotide variant	NM_001430.5(EPAS1):c.103T>C (p.Tyr35His)	Inborn genetic diseases [RCV002389736]	uncertain significance	2	46346949	46346949	Human	1	name
155684206	CV1830367	single nucleotide variant	NM_001430.5(EPAS1):c.1494T>C (p.Ile498=)	Inborn genetic diseases [RCV002389778]	likely benign	2	46378707	46378707	Human	1	name
155710074	CV1830937	single nucleotide variant	NM_001430.5(EPAS1):c.1641C>A (p.Pro547=)	Inborn genetic diseases [RCV002403555]	likely benign	2	46380313	46380313	Human	1	name
155710106	CV1830945	single nucleotide variant	NM_001430.5(EPAS1):c.1641C>T (p.Pro547=)	Inborn genetic diseases [RCV002403560]	likely benign	2	46380313	46380313	Human	1	name
155703536	CV1831007	single nucleotide variant	NM_001430.5(EPAS1):c.1644G>A (p.Glu548=)	Inborn genetic diseases [RCV002394952]	likely benign	2	46380316	46380316	Human	1	name
155704194	CV1831145	single nucleotide variant	NM_001430.5(EPAS1):c.1650G>A (p.Arg550=)	Inborn genetic diseases [RCV002395033]	likely benign	2	46380322	46380322	Human	1	name
155711172	CV1831183	single nucleotide variant	NM_001430.5(EPAS1):c.1653C>G (p.Leu551=)	Inborn genetic diseases [RCV002403687]	likely benign	2	46380325	46380325	Human	1	name
155711206	CV1831190	single nucleotide variant	NM_001430.5(EPAS1):c.1653C>T (p.Leu551=)	Inborn genetic diseases [RCV002403693]	likely benign	2	46380325	46380325	Human	1	name
155711381	CV1831218	single nucleotide variant	NM_001430.5(EPAS1):c.1654T>C (p.Leu552=)	Inborn genetic diseases [RCV002403714]	likely benign	2	46380326	46380326	Human	1	name
155729849	CV1831621	single nucleotide variant	NM_001430.5(EPAS1):c.1734C>T (p.Ala578=)	Inborn genetic diseases [RCV002407440]	likely benign	2	46380406	46380406	Human	1	name
155737884	CV1831747	single nucleotide variant	NM_001430.5(EPAS1):c.1804C>A (p.Arg602=)	Inborn genetic diseases [RCV002410044]	likely benign	2	46380476	46380476	Human	1	name
155738210	CV1831947	single nucleotide variant	NM_001430.5(EPAS1):c.1815C>G (p.Ser605=)	Inborn genetic diseases [RCV002410245]	likely benign	2	46380487	46380487	Human	1	name
155738219	CV1831952	single nucleotide variant	NM_001430.5(EPAS1):c.1815C>T (p.Ser605=)	Inborn genetic diseases [RCV002410250]	likely benign	2	46380487	46380487	Human	1	name
155738235	CV1831958	single nucleotide variant	NM_001430.5(EPAS1):c.1062C>T (p.Phe354=)	Inborn genetic diseases [RCV002410256]	likely benign	2	46376566	46376566	Human	1	name
155738313	CV1831997	single nucleotide variant	NM_001430.5(EPAS1):c.1818C>T (p.Ser606=)	Inborn genetic diseases [RCV002410295]	likely benign	2	46380490	46380490	Human	1	name
155738620	CV1832105	single nucleotide variant	NM_001430.5(EPAS1):c.1824C>T (p.Phe608=)	Inborn genetic diseases [RCV002410403]	likely benign	2	46380496	46380496	Human	1	name
155670191	CV1832290	single nucleotide variant	NM_001430.5(EPAS1):c.1317C>A (p.Ala439=)	Inborn genetic diseases [RCV002385588]	likely benign	2	46377961	46377961	Human	1	name
155670457	CV1832350	single nucleotide variant	NM_001430.5(EPAS1):c.131C>T (p.Pro44Leu)	Inborn genetic diseases [RCV002385648]\|not provided [RCV003774260]	uncertain significance	2	46346977	46346977	Human	1	name
155670594	CV1832384	single nucleotide variant	NM_001430.5(EPAS1):c.1320G>A (p.Thr440=)	Inborn genetic diseases [RCV002385682]\|not provided [RCV005058591]	likely benign	2	46377964	46377964	Human	1	name
155670619	CV1832390	single nucleotide variant	NM_001430.5(EPAS1):c.1320G>T (p.Thr440=)	Inborn genetic diseases [RCV002385688]	likely benign	2	46377964	46377964	Human	1	name
155670824	CV1832438	single nucleotide variant	NM_001430.5(EPAS1):c.1323G>A (p.Glu441=)	Inborn genetic diseases [RCV002385736]	likely benign	2	46377967	46377967	Human	1	name
155723756	CV1832536	single nucleotide variant	NM_001430.5(EPAS1):c.1383G>A (p.Gln461=)	Inborn genetic diseases [RCV002381218]	likely benign	2	46378027	46378027	Human	1	name
155708980	CV1832590	single nucleotide variant	NM_001430.5(EPAS1):c.1386A>G (p.Ala462=)	Inborn genetic diseases [RCV002396528]	likely benign	2	46378030	46378030	Human	1	name
155709587	CV1832684	single nucleotide variant	NM_001430.5(EPAS1):c.1389T>A (p.Ala463=)	Inborn genetic diseases [RCV002396622]	likely benign	2	46378033	46378033	Human	1	name
155679943	CV1832769	single nucleotide variant	NM_001430.5(EPAS1):c.1392C>A (p.Ala464=)	Inborn genetic diseases [RCV002389050]	likely benign	2	46378036	46378036	Human	1	name
155680018	CV1832784	single nucleotide variant	NM_001430.5(EPAS1):c.1032G>A (p.Leu344=)	Inborn genetic diseases [RCV002389065]	likely benign	2	46375835	46375835	Human	1	name
155680170	CV1832819	single nucleotide variant	NM_001430.5(EPAS1):c.1395G>A (p.Pro465=)	Inborn genetic diseases [RCV002389100]\|not provided [RCV005058606]	likely benign	2	46378039	46378039	Human	1	name
155680192	CV1832825	single nucleotide variant	NM_001430.5(EPAS1):c.1395G>C (p.Pro465=)	Inborn genetic diseases [RCV002389106]	likely benign	2	46378039	46378039	Human	1	name
155680391	CV1832869	single nucleotide variant	NM_001430.5(EPAS1):c.1398C>T (p.Gly466=)	Inborn genetic diseases [RCV002389150]	likely benign	2	46378042	46378042	Human	1	name
155710426	CV1833061	single nucleotide variant	NM_001430.5(EPAS1):c.1461C>T (p.Asp487=)	Inborn genetic diseases [RCV002396740]	likely benign	2	46378674	46378674	Human	1	name
155707625	CV1833453	single nucleotide variant	NM_001430.5(EPAS1):c.1542A>G (p.Gln514=)	Inborn genetic diseases [RCV002403191]	likely benign	2	46378755	46378755	Human	1	name
155733051	CV1834186	single nucleotide variant	NM_001430.5(EPAS1):c.1635C>A (p.Ile545=)	Inborn genetic diseases [RCV002401357]	likely benign	2	46380307	46380307	Human	1	name
155745299	CV1834273	single nucleotide variant	NM_001430.5(EPAS1):c.169A>G (p.Met57Val)	Inborn genetic diseases [RCV002414684]	uncertain significance	2	46347015	46347015	Human	1	name
155721040	CV1834521	single nucleotide variant	NM_001430.5(EPAS1):c.1710C>A (p.Ile570=)	Inborn genetic diseases [RCV002398888]	likely benign	2	46380382	46380382	Human	1	name
155721069	CV1834525	single nucleotide variant	NM_001430.5(EPAS1):c.1710C>T (p.Ile570=)	Inborn genetic diseases [RCV002398892]	likely benign	2	46380382	46380382	Human	1	name
155731457	CV1834785	single nucleotide variant	NM_001430.5(EPAS1):c.1785G>A (p.Lys595=)	Inborn genetic diseases [RCV002407717]	likely benign	2	46380457	46380457	Human	1	name
155714750	CV1834827	single nucleotide variant	NM_001430.5(EPAS1):c.1788G>A (p.Lys596=)	Inborn genetic diseases [RCV002404173]	likely benign	2	46380460	46380460	Human	1	name
155731649	CV1834893	single nucleotide variant	NM_001430.5(EPAS1):c.1791A>G (p.Thr597=)	Inborn genetic diseases [RCV002407764]	likely benign	2	46380463	46380463	Human	1	name
155731837	CV1834983	single nucleotide variant	NM_001430.5(EPAS1):c.1797C>T (p.Pro599=)	Inborn genetic diseases [RCV002407809]\|not provided [RCV005097765]	likely benign	2	46380469	46380469	Human	1	name
155731989	CV1835033	single nucleotide variant	NM_001430.5(EPAS1):c.179C>T (p.Ala60Val)	Inborn genetic diseases [RCV002407847]	uncertain significance	2	46347025	46347025	Human	1	name
155746312	CV1835104	single nucleotide variant	NM_001430.5(EPAS1):c.1872C>T (p.Ala624=)	Inborn genetic diseases [RCV002415124]	likely benign	2	46380544	46380544	Human	1	name
155746564	CV1835210	single nucleotide variant	NM_001430.5(EPAS1):c.1878C>A (p.Thr626=)	Inborn genetic diseases [RCV002415231]	likely benign	2	46380550	46380550	Human	1	name
155732795	CV1835457	single nucleotide variant	NM_001430.5(EPAS1):c.1890C>T (p.Ser630=)	Inborn genetic diseases [RCV002408017]	likely benign	2	46380562	46380562	Human	1	name
155719258	CV1835595	single nucleotide variant	NM_001430.5(EPAS1):c.1293C>T (p.Ile431=)	Inborn genetic diseases [RCV002380596]	likely benign	2	46377937	46377937	Human	1	name
155719642	CV1835658	single nucleotide variant	NM_001430.5(EPAS1):c.1296G>A (p.Leu432=)	Inborn genetic diseases [RCV002380659]	likely benign	2	46377940	46377940	Human	1	name
155720026	CV1835720	single nucleotide variant	NM_001430.5(EPAS1):c.1299C>G (p.Pro433=)	Inborn genetic diseases [RCV002380721]	likely benign	2	46377943	46377943	Human	1	name
155721090	CV1835879	single nucleotide variant	NM_001430.5(EPAS1):c.1302G>A (p.Pro434=)	Inborn genetic diseases [RCV002380881]\|not provided [RCV005097420]	likely benign	2	46377946	46377946	Human	1	name
155733403	CV1836105	single nucleotide variant	NM_001430.5(EPAS1):c.1368C>A (p.Ala456=)	Inborn genetic diseases [RCV002383623]	likely benign	2	46378012	46378012	Human	1	name
155733409	CV1836107	single nucleotide variant	NM_001430.5(EPAS1):c.1368C>G (p.Ala456=)	Inborn genetic diseases [RCV002383625]\|not provided [RCV005097473]	likely benign	2	46378012	46378012	Human	1	name
155733418	CV1836110	single nucleotide variant	NM_001430.5(EPAS1):c.1368C>T (p.Ala456=)	Inborn genetic diseases [RCV002383628]	likely benign	2	46378012	46378012	Human	1	name
155733742	CV1836184	single nucleotide variant	NM_001430.5(EPAS1):c.1371C>T (p.Phe457=)	Inborn genetic diseases [RCV002383703]	likely benign	2	46378015	46378015	Human	1	name
155733984	CV1836247	single nucleotide variant	NM_001430.5(EPAS1):c.1374C>T (p.Thr458=)	Inborn genetic diseases [RCV002383766]	likely benign	2	46378018	46378018	Human	1	name
155723024	CV1836393	single nucleotide variant	NM_001430.5(EPAS1):c.137G>A (p.Ser46Asn)	Inborn genetic diseases [RCV002381133]	uncertain significance	2	46346983	46346983	Human	1	name
155723041	CV1836396	single nucleotide variant	NM_001430.5(EPAS1):c.137G>C (p.Ser46Thr)	Inborn genetic diseases [RCV002381136]	uncertain significance	2	46346983	46346983	Human	1	name
155699503	CV1836540	single nucleotide variant	NM_001430.5(EPAS1):c.1440C>T (p.Ser480=)	Inborn genetic diseases [RCV002394352]	likely benign	2	46378084	46378084	Human	1	name
155700328	CV1836719	single nucleotide variant	NM_001430.5(EPAS1):c.1449T>C (p.Asn483=)	Inborn genetic diseases [RCV002394532]	likely benign	2	46378662	46378662	Human	1	name
155693204	CV1837034	single nucleotide variant	NM_001430.5(EPAS1):c.1524C>T (p.Asp508=)	Inborn genetic diseases [RCV002392497]	likely benign	2	46378737	46378737	Human	1	name
155702090	CV1837564	single nucleotide variant	NM_001430.5(EPAS1):c.1608C>T (p.Asp536=)	Inborn genetic diseases [RCV002394792]	likely benign	2	46380280	46380280	Human	1	name
155702534	CV1837633	single nucleotide variant	NM_001430.5(EPAS1):c.1611G>A (p.Gly537=)	Inborn genetic diseases [RCV002394843]\|not provided [RCV005058658]	likely benign	2	46380283	46380283	Human	1	name
155731513	CV1837740	single nucleotide variant	NM_001430.5(EPAS1):c.104A>T (p.Tyr35Phe)	Inborn genetic diseases [RCV002400992]	uncertain significance	2	46346950	46346950	Human	1	name
155723317	CV1837834	single nucleotide variant	NM_001430.5(EPAS1):c.1680C>A (p.Pro560=)	Inborn genetic diseases [RCV002406025]	likely benign	2	46380352	46380352	Human	1	name
155723323	CV1837835	single nucleotide variant	NM_001430.5(EPAS1):c.1680C>G (p.Pro560=)	Inborn genetic diseases [RCV002406026]\|not provided [RCV005097678]	likely benign	2	46380352	46380352	Human	1	name
155745070	CV1837941	single nucleotide variant	NM_001430.5(EPAS1):c.1686C>T (p.His562=)	Inborn genetic diseases [RCV002414577]	likely benign	2	46380358	46380358	Human	1	name
155724500	CV1838089	single nucleotide variant	NM_001430.5(EPAS1):c.1692C>T (p.Phe564=)	Inborn genetic diseases [RCV002406168]	likely benign	2	46380364	46380364	Human	1	name
155713655	CV1838533	single nucleotide variant	NM_001430.5(EPAS1):c.1776G>A (p.Leu592=)	Inborn genetic diseases [RCV002403990]	likely benign	2	46380448	46380448	Human	1	name
155744002	CV1838727	single nucleotide variant	NM_001430.5(EPAS1):c.1854A>C (p.Pro618=)	Inborn genetic diseases [RCV002413067]	likely benign	2	46380526	46380526	Human	1	name
155744118	CV1838778	single nucleotide variant	NM_001430.5(EPAS1):c.1857G>A (p.Pro619=)	Erythrocytosis, familial, 4 [RCV003615907]\|Inborn genetic diseases [RCV002413118]	likely benign	2	46380529	46380529	Human	2	name
155745906	CV1838876	single nucleotide variant	NM_001430.5(EPAS1):c.1065C>T (p.Ser355=)	Inborn genetic diseases [RCV002414947]	likely benign	2	46376569	46376569	Human	1	name
155746023	CV1838928	single nucleotide variant	NM_001430.5(EPAS1):c.1866C>A (p.Gly622=)	Inborn genetic diseases [RCV002414999]	likely benign	2	46380538	46380538	Human	1	name
155701794	CV1839099	single nucleotide variant	NM_001430.5(EPAS1):c.1059G>A (p.Val353=)	Inborn genetic diseases [RCV002401639]	likely benign	2	46376563	46376563	Human	1	name
155742993	CV1839221	single nucleotide variant	NM_001430.5(EPAS1):c.1830T>C (p.Asp610=)	Inborn genetic diseases [RCV002412639]	likely benign	2	46380502	46380502	Human	1	name
155743197	CV1839307	single nucleotide variant	NM_001430.5(EPAS1):c.1836A>C (p.Gly612=)	Inborn genetic diseases [RCV002412726]	likely benign	2	46380508	46380508	Human	1	name
155743505	CV1839446	single nucleotide variant	NM_001430.5(EPAS1):c.1842A>G (p.Lys614=)	Inborn genetic diseases [RCV002412865]	likely benign	2	46380514	46380514	Human	1	name
155743620	CV1839490	single nucleotide variant	NM_001430.5(EPAS1):c.1845A>G (p.Ala615=)	Inborn genetic diseases [RCV002412909]	likely benign	2	46380517	46380517	Human	1	name
155683489	CV1839955	single nucleotide variant	NM_001430.5(EPAS1):c.1984T>C (p.Leu662=)	Inborn genetic diseases [RCV002423731]\|not provided [RCV005097870]	likely benign	2	46380656	46380656	Human	1	name
155677368	CV1839990	single nucleotide variant	NM_001430.5(EPAS1):c.205C>T (p.Leu69Phe)	Inborn genetic diseases [RCV002421942]	uncertain significance	2	46347051	46347051	Human	1	name
155678446	CV1840254	single nucleotide variant	NM_001430.5(EPAS1):c.2076A>G (p.Pro692=)	Inborn genetic diseases [RCV002422206]	likely benign	2	46381626	46381626	Human	1	name
155678568	CV1840304	single nucleotide variant	NM_001430.5(EPAS1):c.2079C>T (p.Asp693=)	Inborn genetic diseases [RCV002422256]\|not provided [RCV005097929]	likely benign	2	46381629	46381629	Human	1	name
155720262	CV1840471	single nucleotide variant	NM_001430.5(EPAS1):c.2163C>T (p.Asp721=)	Inborn genetic diseases [RCV002432627]	likely benign	2	46381713	46381713	Human	1	name
155720433	CV1840508	single nucleotide variant	NM_001430.5(EPAS1):c.2166G>C (p.Leu722=)	Inborn genetic diseases [RCV002432652]\|not provided [RCV005097985]	benign\|likely benign	2	46381716	46381716	Human	1	name
155720671	CV1840549	single nucleotide variant	NM_001430.5(EPAS1):c.2169C>T (p.Ser723=)	Inborn genetic diseases [RCV002432684]	likely benign	2	46381719	46381719	Human	1	name
155721879	CV1840731	single nucleotide variant	NM_001430.5(EPAS1):c.2178C>T (p.Asp726=)	Inborn genetic diseases [RCV002432844]	likely benign	2	46381980	46381980	Human	1	name
155696036	CV1840921	single nucleotide variant	NM_001430.5(EPAS1):c.2266C>T (p.Leu756=)	Inborn genetic diseases [RCV002443816]	likely benign	2	46382068	46382068	Human	1	name
155696089	CV1840935	single nucleotide variant	NM_001430.5(EPAS1):c.2268G>A (p.Leu756=)	Inborn genetic diseases [RCV002443830]	likely benign	2	46382070	46382070	Human	1	name
155696098	CV1840937	single nucleotide variant	NM_001430.5(EPAS1):c.2268G>C (p.Leu756=)	Inborn genetic diseases [RCV002443832]	likely benign	2	46382070	46382070	Human	1	name
155696405	CV1841005	single nucleotide variant	NM_001430.5(EPAS1):c.2271C>T (p.Ser757=)	Inborn genetic diseases [RCV002443900]	likely benign	2	46382073	46382073	Human	1	name
155705783	CV1841143	single nucleotide variant	NM_001430.5(EPAS1):c.2280A>C (p.Val760=)	Inborn genetic diseases [RCV002446077]	likely benign	2	46382082	46382082	Human	1	name
155685875	CV1841302	single nucleotide variant	NM_001430.5(EPAS1):c.2379G>A (p.Glu793=)	Inborn genetic diseases [RCV002457855]	likely benign	2	46382516	46382516	Human	1	name
155726104	CV1841535	single nucleotide variant	NM_001430.5(EPAS1):c.2397C>T (p.Phe799=)	Inborn genetic diseases [RCV002450212]	likely benign	2	46382534	46382534	Human	1	name
155710683	CV1841570	single nucleotide variant	NM_001430.5(EPAS1):c.239A>G (p.Glu80Gly)	Inborn genetic diseases [RCV002430661]	uncertain significance	2	46356172	46356172	Human	1	name
155726533	CV1841660	single nucleotide variant	NM_001430.5(EPAS1):c.2403A>C (p.Pro801=)	Inborn genetic diseases [RCV002450267]\|not provided [RCV003427480]	likely benign	2	46382540	46382540	Human	1	name
155726675	CV1841703	single nucleotide variant	NM_001430.5(EPAS1):c.2406G>A (p.Gln802=)	Inborn genetic diseases [RCV002450289]	likely benign	2	46382543	46382543	Human	1	name
155713723	CV1841724	single nucleotide variant	NM_001430.5(EPAS1):c.2496G>A (p.Glu832=)	Inborn genetic diseases [RCV002431004]	likely benign	2	46384543	46384543	Human	1	name
155713877	CV1841748	single nucleotide variant	NM_001430.5(EPAS1):c.2499C>G (p.Ser833=)	Inborn genetic diseases [RCV002431028]	likely benign	2	46384546	46384546	Human	1	name
155714409	CV1841858	single nucleotide variant	NM_001430.5(EPAS1):c.2502C>T (p.Tyr834=)	Inborn genetic diseases [RCV002431116]	likely benign	2	46384549	46384549	Human	1	name
155714455	CV1841869	single nucleotide variant	NM_001430.5(EPAS1):c.2503C>T (p.Leu835=)	Inborn genetic diseases [RCV002431124]	likely benign	2	46384550	46384550	Human	1	name
155663738	CV1841934	single nucleotide variant	NM_001430.5(EPAS1):c.2508G>A (p.Leu836=)	Inborn genetic diseases [RCV002434915]\|not provided [RCV003565565]	benign\|likely benign	2	46384555	46384555	Human	1	name
155663768	CV1841971	single nucleotide variant	NM_001430.5(EPAS1):c.250G>T (p.Asp84Tyr)	Inborn genetic diseases [RCV002434928]	uncertain significance	2	46356183	46356183	Human	1	name
155722690	CV1841994	single nucleotide variant	NM_001430.5(EPAS1):c.2511C>G (p.Pro837=)	Inborn genetic diseases [RCV002432939]	likely benign	2	46384558	46384558	Human	1	name
155723135	CV1842044	single nucleotide variant	NM_001430.5(EPAS1):c.2515C>T (p.Leu839=)	Inborn genetic diseases [RCV002432982]	likely benign	2	46384562	46384562	Human	1	name
155723369	CV1842069	single nucleotide variant	NM_001430.5(EPAS1):c.2517G>A (p.Leu839=)	Inborn genetic diseases [RCV002433007]	likely benign	2	46384564	46384564	Human	1	name
155723762	CV1842125	single nucleotide variant	NM_001430.5(EPAS1):c.2520C>G (p.Thr840=)	Inborn genetic diseases [RCV002433052]	likely benign	2	46384567	46384567	Human	1	name
155733195	CV1842541	single nucleotide variant	NM_001430.5(EPAS1):c.1896G>A (p.Gly632=)	Inborn genetic diseases [RCV002408112]	likely benign	2	46380568	46380568	Human	1	name
155733386	CV1842604	single nucleotide variant	NM_001430.5(EPAS1):c.1899C>T (p.Gly633=)	Inborn genetic diseases [RCV002408175]	likely benign	2	46380571	46380571	Human	1	name
155733782	CV1842703	single nucleotide variant	NM_001430.5(EPAS1):c.1902A>G (p.Arg634=)	Inborn genetic diseases [RCV002408274]	likely benign	2	46380574	46380574	Human	1	name
155733976	CV1842752	single nucleotide variant	NM_001430.5(EPAS1):c.1905C>G (p.Ser635=)	Inborn genetic diseases [RCV002408323]	likely benign	2	46380577	46380577	Human	1	name
155739081	CV1842890	single nucleotide variant	NM_001430.5(EPAS1):c.1911C>A (p.Thr637=)	Inborn genetic diseases [RCV002410539]	likely benign	2	46380583	46380583	Human	1	name
155739085	CV1842892	single nucleotide variant	NM_001430.5(EPAS1):c.1911C>T (p.Thr637=)	Inborn genetic diseases [RCV002410541]	likely benign	2	46380583	46380583	Human	1	name
155739254	CV1842944	single nucleotide variant	NM_001430.5(EPAS1):c.1914G>A (p.Gln638=)	Inborn genetic diseases [RCV002410593]\|not provided [RCV005058714]	likely benign	2	46380586	46380586	Human	1	name
155744229	CV1843012	single nucleotide variant	NM_001430.5(EPAS1):c.1941T>C (p.Phe647=)	Inborn genetic diseases [RCV002413194]	likely benign	2	46380613	46380613	Human	1	name
155744270	CV1843047	single nucleotide variant	NM_001430.5(EPAS1):c.1944G>A (p.Gly648=)	Inborn genetic diseases [RCV002413229]	likely benign	2	46380616	46380616	Human	1	name
155744328	CV1843094	single nucleotide variant	NM_001430.5(EPAS1):c.1947C>G (p.Pro649=)	Inborn genetic diseases [RCV002413276]	likely benign	2	46380619	46380619	Human	1	name
155675795	CV1843312	single nucleotide variant	NM_001430.5(EPAS1):c.1959C>T (p.Ala653=)	Inborn genetic diseases [RCV002421676]	likely benign	2	46380631	46380631	Human	1	name
155670250	CV1843476	single nucleotide variant	NM_001430.5(EPAS1):c.2037C>T (p.Phe679=)	Inborn genetic diseases [RCV002419860]	likely benign	2	46380709	46380709	Human	1	name
155671170	CV1843664	single nucleotide variant	NM_001430.5(EPAS1):c.2049T>C (p.Ser683=)	Inborn genetic diseases [RCV002420048]	likely benign	2	46381599	46381599	Human	1	name
155677266	CV1843814	single nucleotide variant	NM_001430.5(EPAS1):c.2058T>C (p.Gly686=)	Inborn genetic diseases [RCV002421918]	likely benign	2	46381608	46381608	Human	1	name
155709995	CV1843979	single nucleotide variant	NM_001430.5(EPAS1):c.2142T>C (p.Tyr714=)	EPAS1-related disorder [RCV003971297]\|Inborn genetic diseases [RCV002430574]	likely benign	2	46381692	46381692	Human	2	name , alternate_id
155710520	CV1844046	single nucleotide variant	NM_001430.5(EPAS1):c.2148G>A (p.Glu716=)	Inborn genetic diseases [RCV002430642]	likely benign	2	46381698	46381698	Human	1	name
155719499	CV1844165	single nucleotide variant	NM_001430.5(EPAS1):c.2154C>T (p.Ala718=)	Inborn genetic diseases [RCV002432516]	likely benign	2	46381704	46381704	Human	1	name
155700288	CV1844424	single nucleotide variant	NM_001430.5(EPAS1):c.2247T>C (p.Pro749=)	Inborn genetic diseases [RCV002428418]	likely benign	2	46382049	46382049	Human	1	name
155695277	CV1844592	single nucleotide variant	NM_001430.5(EPAS1):c.2256G>A (p.Pro752=)	Inborn genetic diseases [RCV002443641]	likely benign	2	46382058	46382058	Human	1	name
155685568	CV1845012	single nucleotide variant	NM_001430.5(EPAS1):c.236C>T (p.Ser79Phe)	Inborn genetic diseases [RCV002457756]	uncertain significance	2	46356169	46356169	Human	1	name
155685679	CV1845065	single nucleotide variant	NM_001430.5(EPAS1):c.2373C>A (p.Pro791=)	Inborn genetic diseases [RCV002457791]	likely benign	2	46382510	46382510	Human	1	name
155685681	CV1845066	single nucleotide variant	NM_001430.5(EPAS1):c.2373C>T (p.Pro791=)	Inborn genetic diseases [RCV002457792]	likely benign	2	46382510	46382510	Human	1	name
155725864	CV1845093	single nucleotide variant	NM_001430.5(EPAS1):c.1095C>A (p.Pro365=)	Inborn genetic diseases [RCV002450183]	likely benign	2	46376599	46376599	Human	1	name
155685786	CV1845109	single nucleotide variant	NM_001430.5(EPAS1):c.2376G>A (p.Gly792=)	Inborn genetic diseases [RCV002457828]	likely benign	2	46382513	46382513	Human	1	name
155685801	CV1845114	single nucleotide variant	NM_001430.5(EPAS1):c.1095C>G (p.Pro365=)	Inborn genetic diseases [RCV002457832]\|not provided [RCV005098105]	benign\|likely benign	2	46376599	46376599	Human	1	name
155678248	CV1845296	single nucleotide variant	NM_001430.5(EPAS1):c.2478G>A (p.Leu826=)	Inborn genetic diseases [RCV002455584]	likely benign	2	46384525	46384525	Human	1	name
155711872	CV1845357	single nucleotide variant	NM_001430.5(EPAS1):c.2481C>G (p.Leu827=)	Inborn genetic diseases [RCV002430792]	likely benign	2	46384528	46384528	Human	1	name
155711892	CV1845360	single nucleotide variant	NM_001430.5(EPAS1):c.2481C>T (p.Leu827=)	Inborn genetic diseases [RCV002430795]\|not provided [RCV003408280]	likely benign	2	46384528	46384528	Human	1	name
155712881	CV1845474	single nucleotide variant	NM_001430.5(EPAS1):c.248C>A (p.Ala83Asp)	Inborn genetic diseases [RCV002430909]\|not provided [RCV005098156]	uncertain significance	2	46356181	46356181	Human	1	name
155712889	CV1845476	single nucleotide variant	NM_001430.5(EPAS1):c.248C>G (p.Ala83Gly)	Inborn genetic diseases [RCV002430911]	uncertain significance	2	46356181	46356181	Human	1	name
155692303	CV1845656	single nucleotide variant	NM_001430.5(EPAS1):c.2592A>G (p.Arg864=)	Inborn genetic diseases [RCV002426151]\|not provided [RCV003427484]	likely benign	2	46384639	46384639	Human	1	name
155692400	CV1845684	single nucleotide variant	NM_001430.5(EPAS1):c.2595C>A (p.Ala865=)	Inborn genetic diseases [RCV002426169]\|not provided [RCV005058817]	likely benign	2	46384642	46384642	Human	1	name
155671593	CV1845717	single nucleotide variant	NM_001430.5(EPAS1):c.2598G>A (p.Leu866=)	Inborn genetic diseases [RCV002437118]	likely benign	2	46384645	46384645	Human	1	name
155692562	CV1845734	single nucleotide variant	NM_001430.5(EPAS1):c.259A>G (p.Met87Val)	Inborn genetic diseases [RCV002426197]	uncertain significance	2	46356192	46356192	Human	1	name
155693294	CV1845913	single nucleotide variant	NM_001430.5(EPAS1):c.260T>G (p.Met87Arg)	Inborn genetic diseases [RCV002426329]	uncertain significance	2	46356193	46356193	Human	1	name
155739544	CV1846021	single nucleotide variant	NM_001430.5(EPAS1):c.191T>G (p.Leu64Arg)	Inborn genetic diseases [RCV002410689]	uncertain significance	2	46347037	46347037	Human	1	name
155739767	CV1846083	single nucleotide variant	NM_001430.5(EPAS1):c.1923A>G (p.Pro641=)	Inborn genetic diseases [RCV002410751]	likely benign	2	46380595	46380595	Human	1	name
155740525	CV1846365	single nucleotide variant	NM_001430.5(EPAS1):c.1938T>C (p.His646=)	Inborn genetic diseases [RCV002411035]	likely benign	2	46380610	46380610	Human	1	name
155747916	CV1846398	single nucleotide variant	NM_001430.5(EPAS1):c.2007C>A (p.Pro669=)	Inborn genetic diseases [RCV002417273]	likely benign	2	46380679	46380679	Human	1	name
155748000	CV1846472	single nucleotide variant	NM_001430.5(EPAS1):c.2010T>A (p.Pro670=)	Inborn genetic diseases [RCV002417348]	likely benign	2	46380682	46380682	Human	1	name
155748033	CV1846499	single nucleotide variant	NM_001430.5(EPAS1):c.2013C>T (p.Val671=)	Inborn genetic diseases [RCV002417376]	likely benign	2	46380685	46380685	Human	1	name
155748035	CV1846501	single nucleotide variant	NM_001430.5(EPAS1):c.1074G>A (p.Gln358=)	Inborn genetic diseases [RCV002417378]	likely benign	2	46376578	46376578	Human	1	name
155748078	CV1846537	single nucleotide variant	NM_001430.5(EPAS1):c.2016T>C (p.Ser672=)	Inborn genetic diseases [RCV002417414]	likely benign	2	46380688	46380688	Human	1	name
155748119	CV1846572	single nucleotide variant	NM_001430.5(EPAS1):c.201C>A (p.His67Gln)	Inborn genetic diseases [RCV002417449]	uncertain significance	2	46347047	46347047	Human	1	name
155668750	CV1846648	single nucleotide variant	NM_001430.5(EPAS1):c.2022C>T (p.Pro674=)	Inborn genetic diseases [RCV002419617]	likely benign	2	46380694	46380694	Human	1	name
155669517	CV1846754	single nucleotide variant	NM_001430.5(EPAS1):c.2028C>T (p.Val676=)	Inborn genetic diseases [RCV002419725]	likely benign	2	46380700	46380700	Human	1	name
155748230	CV1846921	single nucleotide variant	NM_001430.5(EPAS1):c.2115G>A (p.Lys705=)	Inborn genetic diseases [RCV002417546]	likely benign	2	46381665	46381665	Human	1	name
155748261	CV1846948	single nucleotide variant	NM_001430.5(EPAS1):c.2118G>A (p.Leu706=)	Inborn genetic diseases [RCV002417573]\|not provided [RCV003730197]	likely benign	2	46381668	46381668	Human	1	name
155748317	CV1846998	single nucleotide variant	NM_001430.5(EPAS1):c.1080A>G (p.Glu360=)	Inborn genetic diseases [RCV002417623]	likely benign	2	46376584	46376584	Human	1	name
155748370	CV1847045	single nucleotide variant	NM_001430.5(EPAS1):c.2124G>A (p.Leu708=)	Inborn genetic diseases [RCV002417672]	likely benign	2	46381674	46381674	Human	1	name
155748418	CV1847088	single nucleotide variant	NM_001430.5(EPAS1):c.2127G>A (p.Lys709=)	Inborn genetic diseases [RCV002417715]	likely benign	2	46381677	46381677	Human	1	name
155748458	CV1847124	single nucleotide variant	NM_001430.5(EPAS1):c.212C>T (p.Ser71Phe)	Inborn genetic diseases [RCV002417751]	uncertain significance	2	46347058	46347058	Human	1	name
155748471	CV1847136	single nucleotide variant	NM_001430.5(EPAS1):c.2130A>C (p.Arg710=)	Inborn genetic diseases [RCV002417763]	likely benign	2	46381680	46381680	Human	1	name
155698749	CV1847356	single nucleotide variant	NM_001430.5(EPAS1):c.221G>C (p.Cys74Ser)	Inborn genetic diseases [RCV002428067]	uncertain significance	2	46356154	46356154	Human	1	name
155699093	CV1847443	single nucleotide variant	NM_001430.5(EPAS1):c.2226C>T (p.Asn742=)	Inborn genetic diseases [RCV002428145]	likely benign	2	46382028	46382028	Human	1	name
155699565	CV1847582	single nucleotide variant	NM_001430.5(EPAS1):c.2232G>A (p.Arg744=)	Inborn genetic diseases [RCV002428268]	likely benign	2	46382034	46382034	Human	1	name
155685264	CV1847832	single nucleotide variant	NM_001430.5(EPAS1):c.232G>A (p.Glu78Lys)	Inborn genetic diseases [RCV002457619]	uncertain significance	2	46356165	46356165	Human	1	name
155715891	CV1847834	single nucleotide variant	NM_001430.5(EPAS1):c.232G>C (p.Glu78Gln)	Inborn genetic diseases [RCV002448195]	uncertain significance	2	46356165	46356165	Human	1	name
155685294	CV1847855	single nucleotide variant	NM_001430.5(EPAS1):c.1092G>A (p.Lys364=)	Inborn genetic diseases [RCV002457633]	likely benign	2	46376596	46376596	Human	1	name
155685305	CV1847862	single nucleotide variant	NM_001430.5(EPAS1):c.2331G>C (p.Leu777=)	Inborn genetic diseases [RCV002457637]\|not provided [RCV005058774]	likely benign	2	46382468	46382468	Human	1	name
155715996	CV1847882	single nucleotide variant	NM_001430.5(EPAS1):c.2334A>G (p.Arg778=)	Inborn genetic diseases [RCV002448218]	likely benign	2	46382471	46382471	Human	1	name
155716286	CV1847992	single nucleotide variant	NM_001430.5(EPAS1):c.2340G>A (p.Leu780=)	Inborn genetic diseases [RCV002448284]	likely benign	2	46382477	46382477	Human	1	name
155716439	CV1848038	single nucleotide variant	NM_001430.5(EPAS1):c.2343G>A (p.Pro781=)	Inborn genetic diseases [RCV002448321]	likely benign	2	46382480	46382480	Human	1	name
155694425	CV1848093	single nucleotide variant	NM_001430.5(EPAS1):c.2439G>A (p.Leu813=)	Inborn genetic diseases [RCV002459981]	likely benign	2	46382576	46382576	Human	1	name
155677314	CV1848168	single nucleotide variant	NM_001430.5(EPAS1):c.2442G>A (p.Ser814=)	Inborn genetic diseases [RCV002455360]\|not provided [RCV005098137]	benign\|likely benign	2	46382579	46382579	Human	1	name
155677325	CV1848171	single nucleotide variant	NM_001430.5(EPAS1):c.2442G>T (p.Ser814=)	Inborn genetic diseases [RCV002455363]	likely benign	2	46382579	46382579	Human	1	name
155677521	CV1848241	single nucleotide variant	NM_001430.5(EPAS1):c.2448C>T (p.Ala816=)	Inborn genetic diseases [RCV002455413]	likely benign	2	46382585	46382585	Human	1	name
155677618	CV1848314	single nucleotide variant	NM_001430.5(EPAS1):c.2451C>T (p.His817=)	Inborn genetic diseases [RCV002455435]	likely benign	2	46382588	46382588	Human	1	name
155668459	CV1848643	single nucleotide variant	NM_001430.5(EPAS1):c.2562C>T (p.Ser854=)	Inborn genetic diseases [RCV002452738]\|not provided [RCV003775295]	likely benign	2	46384609	46384609	Human	1	name
155726746	CV1848678	single nucleotide variant	NM_001430.5(EPAS1):c.2565G>C (p.Thr855=)	Inborn genetic diseases [RCV002433439]	likely benign	2	46384612	46384612	Human	1	name
155691472	CV1848764	single nucleotide variant	NM_001430.5(EPAS1):c.2571G>A (p.Leu857=)	Inborn genetic diseases [RCV002426011]	likely benign	2	46384618	46384618	Human	1	name
155668891	CV1848828	single nucleotide variant	NM_001430.5(EPAS1):c.2577A>C (p.Gly859=)	Inborn genetic diseases [RCV002452800]	likely benign	2	46384624	46384624	Human	1	name
155669141	CV1848885	single nucleotide variant	NM_001430.5(EPAS1):c.2580G>A (p.Gly860=)	Inborn genetic diseases [RCV002452840]	likely benign	2	46384627	46384627	Human	1	name
155669253	CV1848918	single nucleotide variant	NM_001430.5(EPAS1):c.2583C>T (p.Asp861=)	Inborn genetic diseases [RCV002452861]	likely benign	2	46384630	46384630	Human	1	name
155669291	CV1848945	single nucleotide variant	NM_001430.5(EPAS1):c.2586C>T (p.Leu862=)	Inborn genetic diseases [RCV002452868]	likely benign	2	46384633	46384633	Human	1	name
155747577	CV1849603	single nucleotide variant	NM_001430.5(EPAS1):c.1995G>A (p.Ala665=)	Inborn genetic diseases [RCV002416981]	likely benign	2	46380667	46380667	Human	1	name
155747639	CV1849656	single nucleotide variant	NM_001430.5(EPAS1):c.1998G>A (p.Pro666=)	Inborn genetic diseases [RCV002417034]\|not provided [RCV005097879]	likely benign	2	46380670	46380670	Human	1	name
155684857	CV1849964	single nucleotide variant	NM_001430.5(EPAS1):c.208C>T (p.Leu70Phe)	Inborn genetic diseases [RCV002424018]	uncertain significance	2	46347054	46347054	Human	1	name
155684982	CV1849999	single nucleotide variant	NM_001430.5(EPAS1):c.2091G>A (p.Pro697=)	Inborn genetic diseases [RCV002424053]	likely benign	2	46381641	46381641	Human	1	name
155684988	CV1850002	single nucleotide variant	NM_001430.5(EPAS1):c.2091G>T (p.Pro697=)	Inborn genetic diseases [RCV002424056]	likely benign	2	46381641	46381641	Human	1	name
155685375	CV1850157	single nucleotide variant	NM_001430.5(EPAS1):c.2100A>C (p.Val700=)	Inborn genetic diseases [RCV002424211]	likely benign	2	46381650	46381650	Human	1	name
155685380	CV1850161	single nucleotide variant	NM_001430.5(EPAS1):c.2100A>G (p.Val700=)	Inborn genetic diseases [RCV002424215]	likely benign	2	46381650	46381650	Human	1	name
155685381	CV1850162	single nucleotide variant	NM_001430.5(EPAS1):c.2100A>T (p.Val700=)	Inborn genetic diseases [RCV002424216]	likely benign	2	46381650	46381650	Human	1	name
155685474	CV1850211	single nucleotide variant	NM_001430.5(EPAS1):c.2103C>G (p.Ala701=)	Inborn genetic diseases [RCV002424266]	likely benign	2	46381653	46381653	Human	1	name
155685477	CV1850213	single nucleotide variant	NM_001430.5(EPAS1):c.2103C>T (p.Ala701=)	Inborn genetic diseases [RCV002424268]	likely benign	2	46381653	46381653	Human	1	name
155688583	CV1850402	single nucleotide variant	NM_001430.5(EPAS1):c.2190C>T (p.Gly730=)	Inborn genetic diseases [RCV002425558]	likely benign	2	46381992	46381992	Human	1	name
155690101	CV1850637	single nucleotide variant	NM_001430.5(EPAS1):c.2202T>C (p.His734=)	Inborn genetic diseases [RCV002425762]	likely benign	2	46382004	46382004	Human	1	name
155690655	CV1850734	single nucleotide variant	NM_001430.5(EPAS1):c.220T>G (p.Cys74Gly)	Erythrocytosis, familial, 4 [RCV005032269]\|Inborn genetic diseases [RCV002425851]	uncertain significance	2	46356153	46356153	Human	2	name
155706268	CV1850801	single nucleotide variant	NM_001430.5(EPAS1):c.2292G>A (p.Lys764=)	Inborn genetic diseases [RCV002446242]	likely benign	2	46382429	46382429	Human	1	name
155684980	CV1850869	single nucleotide variant	NM_001430.5(EPAS1):c.2298C>T (p.Thr766=)	Inborn genetic diseases [RCV002457525]	likely benign	2	46382435	46382435	Human	1	name
155706749	CV1851005	single nucleotide variant	NM_001430.5(EPAS1):c.2304C>T (p.Asn768=)	Inborn genetic diseases [RCV002446365]	likely benign	2	46382441	46382441	Human	1	name
155700732	CV1851039	single nucleotide variant	NM_001430.5(EPAS1):c.2307C>T (p.Pro769=)	Inborn genetic diseases [RCV002428492]	likely benign	2	46382444	46382444	Human	1	name
155715203	CV1851163	single nucleotide variant	NM_001430.5(EPAS1):c.2316C>G (p.Gly772=)	Inborn genetic diseases [RCV002448058]	likely benign	2	46382453	46382453	Human	1	name
155726807	CV1851202	single nucleotide variant	NM_001430.5(EPAS1):c.2409C>T (p.Cys803=)	Inborn genetic diseases [RCV002450309]	likely benign	2	46382546	46382546	Human	1	name
155726945	CV1851264	single nucleotide variant	NM_001430.5(EPAS1):c.2412C>T (p.Tyr804=)	Inborn genetic diseases [RCV002450345]	likely benign	2	46382549	46382549	Human	1	name
155693190	CV1851324	single nucleotide variant	NM_001430.5(EPAS1):c.2418C>A (p.Thr806=)	Inborn genetic diseases [RCV002459764]	likely benign	2	46382555	46382555	Human	1	name
155727176	CV1851390	single nucleotide variant	NM_001430.5(EPAS1):c.2421G>A (p.Gln807=)	Inborn genetic diseases [RCV002450408]	likely benign	2	46382558	46382558	Human	1	name
155693429	CV1851420	single nucleotide variant	NM_001430.5(EPAS1):c.2424C>T (p.Tyr808=)	Inborn genetic diseases [RCV002459814]	likely benign	2	46382561	46382561	Human	1	name
155694285	CV1851604	single nucleotide variant	NM_001430.5(EPAS1):c.2437C>T (p.Leu813=)	Inborn genetic diseases [RCV002459951]	likely benign	2	46382574	46382574	Human	1	name
155678542	CV1851644	single nucleotide variant	NM_001430.5(EPAS1):c.2526T>C (p.Tyr842=)	Inborn genetic diseases [RCV002455695]	likely benign	2	46384573	46384573	Human	1	name
155724199	CV1851680	single nucleotide variant	NM_001430.5(EPAS1):c.2529C>T (p.Asp843=)	Inborn genetic diseases [RCV002433106]	likely benign	2	46384576	46384576	Human	1	name
155725132	CV1851829	single nucleotide variant	NM_001430.5(EPAS1):c.2538G>A (p.Val846=)	Inborn genetic diseases [RCV002433210]	likely benign	2	46384585	46384585	Human	1	name
155678762	CV1851879	single nucleotide variant	NM_001430.5(EPAS1):c.2541C>T (p.Asn847=)	Inborn genetic diseases [RCV002455784]	likely benign	2	46384588	46384588	Human	1	name
155725575	CV1851940	single nucleotide variant	NM_001430.5(EPAS1):c.2547C>A (p.Pro849=)	Inborn genetic diseases [RCV002433268]	likely benign	2	46384594	46384594	Human	1	name
155725588	CV1851942	single nucleotide variant	NM_001430.5(EPAS1):c.2547C>T (p.Pro849=)	Inborn genetic diseases [RCV002433270]	likely benign	2	46384594	46384594	Human	1	name
155725824	CV1851995	single nucleotide variant	NM_001430.5(EPAS1):c.2550G>C (p.Val850=)	Inborn genetic diseases [RCV002433301]	likely benign	2	46384597	46384597	Human	1	name
155725879	CV1852008	single nucleotide variant	NM_001430.5(EPAS1):c.2551C>T (p.Leu851=)	Inborn genetic diseases [RCV002433308]	likely benign	2	46384598	46384598	Human	1	name
155726009	CV1852030	single nucleotide variant	NM_001430.5(EPAS1):c.2553G>A (p.Leu851=)	Inborn genetic diseases [RCV002433321]	likely benign	2	46384600	46384600	Human	1	name
155663860	CV1852033	single nucleotide variant	NM_001430.5(EPAS1):c.2553G>T (p.Leu851=)	Inborn genetic diseases [RCV002434964]	likely benign	2	46384600	46384600	Human	1	name
155687310	CV1852856	single nucleotide variant	NM_001430.5(EPAS1):c.281C>G (p.Ala94Gly)	Inborn genetic diseases [RCV002441795]	uncertain significance	2	46356214	46356214	Human	1	name
155687320	CV1852859	single nucleotide variant	NM_001430.5(EPAS1):c.281C>T (p.Ala94Val)	Inborn genetic diseases [RCV002441798]\|not provided [RCV005058838]	uncertain significance	2	46356214	46356214	Human	1	name
155679623	CV1853037	single nucleotide variant	NM_001430.5(EPAS1):c.275T>G (p.Leu92Arg)	Inborn genetic diseases [RCV002439488]	uncertain significance	2	46356208	46356208	Human	1	name
155680546	CV1853254	single nucleotide variant	NM_001430.5(EPAS1):c.277A>G (p.Lys93Glu)	Inborn genetic diseases [RCV002439705]	uncertain significance	2	46356210	46356210	Human	1	name
155673086	CV1855580	single nucleotide variant	NM_001430.5(EPAS1):c.1119C>T (p.Ile373=)	Inborn genetic diseases [RCV002437631]	likely benign	2	46376623	46376623	Human	1	name
243058969	CV2409895	single nucleotide variant	NM_001430.5(EPAS1):c.241G>A (p.Ala81Thr)	Erythrocytosis, familial, 4 [RCV003147069]\|Inborn genetic diseases [RCV003164863]\|not provided [RCV005060985]	uncertain significance	2	46356174	46356174	Human	2	name
329384692	CV2426246	single nucleotide variant	NM_001430.5(EPAS1):c.2229C>T (p.Leu743=)	Inborn genetic diseases [RCV003176834]	likely benign	2	46382031	46382031	Human	1	name
329384654	CV2426249	single nucleotide variant	NM_001430.5(EPAS1):c.1377G>A (p.Val459=)	Inborn genetic diseases [RCV003176837]	likely benign	2	46378021	46378021	Human	1	name
329384663	CV2426254	single nucleotide variant	NM_001430.5(EPAS1):c.1533C>G (p.Ala511=)	Inborn genetic diseases [RCV003176841]	likely benign	2	46378746	46378746	Human	1	name
329384666	CV2426255	single nucleotide variant	NM_001430.5(EPAS1):c.2067T>G (p.Ala689=)	Inborn genetic diseases [RCV003176842]	likely benign	2	46381617	46381617	Human	1	name
329368570	CV2426256	single nucleotide variant	NM_001430.5(EPAS1):c.2590A>C (p.Arg864=)	Inborn genetic diseases [RCV003171377]	likely benign	2	46384637	46384637	Human	1	name
329368573	CV2426259	single nucleotide variant	NM_001430.5(EPAS1):c.2569C>T (p.Leu857=)	Inborn genetic diseases [RCV003171379]	likely benign	2	46384616	46384616	Human	1	name
329384681	CV2426263	single nucleotide variant	NM_001430.5(EPAS1):c.1038G>A (p.Glu346=)	Inborn genetic diseases [RCV003176847]	likely benign	2	46376542	46376542	Human	1	name
329384683	CV2426264	single nucleotide variant	NM_001430.5(EPAS1):c.2538G>C (p.Val846=)	Inborn genetic diseases [RCV003176848]	likely benign	2	46384585	46384585	Human	1	name
329384689	CV2426266	single nucleotide variant	NM_001430.5(EPAS1):c.2568C>T (p.Leu856=)	Inborn genetic diseases [RCV003176850]	likely benign	2	46384615	46384615	Human	1	name
329385202	CV2426267	single nucleotide variant	NM_001430.5(EPAS1):c.1272C>G (p.Ser424=)	Inborn genetic diseases [RCV003176851]	likely benign	2	46377916	46377916	Human	1	name
329368576	CV2426272	single nucleotide variant	NM_001430.5(EPAS1):c.1947C>T (p.Pro649=)	Inborn genetic diseases [RCV003171380]	likely benign	2	46380619	46380619	Human	1	name
329384707	CV2426274	single nucleotide variant	NM_001430.5(EPAS1):c.1146G>A (p.Val382=)	Inborn genetic diseases [RCV003176856]	likely benign	2	46376650	46376650	Human	1	name
329384712	CV2426276	single nucleotide variant	NM_001430.5(EPAS1):c.1581G>A (p.Glu527=)	Inborn genetic diseases [RCV003176858]	likely benign	2	46380253	46380253	Human	1	name
329384723	CV2426283	single nucleotide variant	NM_001430.5(EPAS1):c.1722G>A (p.Leu574=)	Inborn genetic diseases [RCV003176863]	likely benign	2	46380394	46380394	Human	1	name
329384727	CV2426284	single nucleotide variant	NM_001430.5(EPAS1):c.203A>C (p.Lys68Thr)	Inborn genetic diseases [RCV003176864]	uncertain significance	2	46347049	46347049	Human	1	name
329368588	CV2426286	single nucleotide variant	NM_001430.5(EPAS1):c.2122C>T (p.Leu708=)	Inborn genetic diseases [RCV003171384]	likely benign	2	46381672	46381672	Human	1	name
329368591	CV2426287	single nucleotide variant	NM_001430.5(EPAS1):c.1725C>G (p.Ala575=)	Inborn genetic diseases [RCV003171385]	likely benign	2	46380397	46380397	Human	1	name
329374974	CV2430975	single nucleotide variant	NM_001430.5(EPAS1):c.2319G>A (p.Leu773=)	Inborn genetic diseases [RCV003173519]	likely benign	2	46382456	46382456	Human	1	name
329374717	CV2431021	single nucleotide variant	NM_001430.5(EPAS1):c.1806G>A (p.Arg602=)	Inborn genetic diseases [RCV003173565]	likely benign	2	46380478	46380478	Human	1	name
329374749	CV2431032	single nucleotide variant	NM_001430.5(EPAS1):c.1995G>T (p.Ala665=)	Inborn genetic diseases [RCV003173576]	likely benign	2	46380667	46380667	Human	1	name
329374882	CV2431081	single nucleotide variant	NM_001430.5(EPAS1):c.1926T>C (p.Asp642=)	Inborn genetic diseases [RCV003173625]	likely benign	2	46380598	46380598	Human	1	name
329375006	CV2431100	single nucleotide variant	NM_001430.5(EPAS1):c.2136G>A (p.Leu712=)	Inborn genetic diseases [RCV003173644]	likely benign	2	46381686	46381686	Human	1	name
329356802	CV2431153	single nucleotide variant	NM_001430.5(EPAS1):c.2040G>A (p.Lys680=)	Inborn genetic diseases [RCV003178377]\|not provided [RCV005061049]	likely benign	2	46380712	46380712	Human	1	name
329356914	CV2431190	single nucleotide variant	NM_001430.5(EPAS1):c.1797C>G (p.Pro599=)	Inborn genetic diseases [RCV003178415]	likely benign	2	46380469	46380469	Human	1	name
329356978	CV2431211	single nucleotide variant	NM_001430.5(EPAS1):c.1995G>C (p.Ala665=)	Inborn genetic diseases [RCV003178436]	likely benign	2	46380667	46380667	Human	1	name
329357016	CV2431222	single nucleotide variant	NM_001430.5(EPAS1):c.1998G>T (p.Pro666=)	Inborn genetic diseases [RCV003178447]	likely benign	2	46380670	46380670	Human	1	name
329374249	CV2434750	single nucleotide variant	NM_001430.5(EPAS1):c.181A>G (p.Ile61Val)	Inborn genetic diseases [RCV003173375]	likely benign	2	46347027	46347027	Human	1	name
329374329	CV2434778	single nucleotide variant	NM_001430.5(EPAS1):c.2196C>T (p.Thr732=)	Inborn genetic diseases [RCV003173403]	likely benign	2	46381998	46381998	Human	1	name
329374466	CV2434826	single nucleotide variant	NM_001430.5(EPAS1):c.2116C>T (p.Leu706=)	Inborn genetic diseases [RCV003173451]	likely benign	2	46381666	46381666	Human	1	name
329384065	CV2472642	single nucleotide variant	NM_001430.5(EPAS1):c.1932A>G (p.Pro644=)	Inborn genetic diseases [RCV003214014]	likely benign	2	46380604	46380604	Human	1	name
401753814	CV2716896	single nucleotide variant	NM_001430.5(EPAS1):c.1398C>A (p.Gly466=)	Inborn genetic diseases [RCV003296311]	likely benign	2	46378042	46378042	Human	1	name
401753817	CV2716897	single nucleotide variant	NM_001430.5(EPAS1):c.1410C>A (p.Pro470=)	Inborn genetic diseases [RCV003296312]	likely benign	2	46378054	46378054	Human	1	name
401753823	CV2716899	single nucleotide variant	NM_001430.5(EPAS1):c.1143T>C (p.Ala381=)	Inborn genetic diseases [RCV003296314]	likely benign	2	46376647	46376647	Human	1	name
401753826	CV2716900	single nucleotide variant	NM_001430.5(EPAS1):c.2085G>A (p.Leu695=)	Inborn genetic diseases [RCV003296315]	likely benign	2	46381635	46381635	Human	1	name
401753829	CV2716901	single nucleotide variant	NM_001430.5(EPAS1):c.1530G>A (p.Glu510=)	Inborn genetic diseases [RCV003296316]	likely benign	2	46378743	46378743	Human	1	name
401753832	CV2716902	single nucleotide variant	NM_001430.5(EPAS1):c.2214A>G (p.Lys738=)	Inborn genetic diseases [RCV003296317]	likely benign	2	46382016	46382016	Human	1	name
401753838	CV2716904	single nucleotide variant	NM_001430.5(EPAS1):c.1407C>T (p.Thr469=)	Inborn genetic diseases [RCV003296319]	likely benign	2	46378051	46378051	Human	1	name
401753844	CV2716906	single nucleotide variant	NM_001430.5(EPAS1):c.2433C>T (p.Tyr811=)	Inborn genetic diseases [RCV003296321]	likely benign	2	46382570	46382570	Human	1	name
401753847	CV2716907	single nucleotide variant	NM_001430.5(EPAS1):c.1585C>T (p.Leu529=)	Inborn genetic diseases [RCV003296322]	likely benign	2	46380257	46380257	Human	1	name
401753850	CV2716908	single nucleotide variant	NM_001430.5(EPAS1):c.1737G>C (p.Pro579=)	Inborn genetic diseases [RCV003296323]	likely benign	2	46380409	46380409	Human	1	name
401783922	CV2720862	single nucleotide variant	NM_001430.5(EPAS1):c.2238G>A (p.Gly746=)	Inborn genetic diseases [RCV003310069]	likely benign	2	46382040	46382040	Human	1	name
401783927	CV2720867	single nucleotide variant	NM_001430.5(EPAS1):c.1800G>A (p.Glu600=)	Inborn genetic diseases [RCV003310074]	likely benign	2	46380472	46380472	Human	1	name
401783930	CV2720870	single nucleotide variant	NM_001430.5(EPAS1):c.1518C>T (p.Ala506=)	Inborn genetic diseases [RCV003310077]	likely benign	2	46378731	46378731	Human	1	name
401783932	CV2720872	single nucleotide variant	NM_001430.5(EPAS1):c.1479T>C (p.Asp493=)	Inborn genetic diseases [RCV003310079]	likely benign	2	46378692	46378692	Human	1	name
401783933	CV2720873	single nucleotide variant	NM_001430.5(EPAS1):c.2244C>T (p.Cys748=)	Inborn genetic diseases [RCV003310080]	likely benign	2	46382046	46382046	Human	1	name
401756676	CV2732034	single nucleotide variant	NM_001430.5(EPAS1):c.2004G>A (p.Gly668=)	Inborn genetic diseases [RCV003297413]	likely benign	2	46380676	46380676	Human	1	name
401756683	CV2732038	single nucleotide variant	NM_001430.5(EPAS1):c.224C>G (p.Ser75Cys)	Inborn genetic diseases [RCV003297417]	uncertain significance	2	46356157	46356157	Human	1	name
401756693	CV2732043	single nucleotide variant	NM_001430.5(EPAS1):c.2058T>G (p.Gly686=)	Inborn genetic diseases [RCV003297422]	likely benign	2	46381608	46381608	Human	1	name
401756702	CV2732048	single nucleotide variant	NM_001430.5(EPAS1):c.2134C>T (p.Leu712=)	Inborn genetic diseases [RCV003297427]	likely benign	2	46381684	46381684	Human	1	name
401756708	CV2732051	single nucleotide variant	NM_001430.5(EPAS1):c.2277T>C (p.Asn759=)	Inborn genetic diseases [RCV003297430]	likely benign	2	46382079	46382079	Human	1	name
401756711	CV2732053	single nucleotide variant	NM_001430.5(EPAS1):c.257A>C (p.Gln86Pro)	Inborn genetic diseases [RCV003297432]	uncertain significance	2	46356190	46356190	Human	1	name
401756618	CV2734185	single nucleotide variant	NM_001430.5(EPAS1):c.1836A>G (p.Gly612=)	Inborn genetic diseases [RCV003297383]	likely benign	2	46380508	46380508	Human	1	name
401756637	CV2734195	single nucleotide variant	NM_001430.5(EPAS1):c.1599C>A (p.Ile533=)	Inborn genetic diseases [RCV003297393]	likely benign	2	46380271	46380271	Human	1	name
401756640	CV2734197	single nucleotide variant	NM_001430.5(EPAS1):c.1029C>A (p.Val343=)	Inborn genetic diseases [RCV003297395]	likely benign	2	46375832	46375832	Human	1	name
401855787	CV2757440	single nucleotide variant	NM_001430.5(EPAS1):c.1260C>T (p.Asn420=)	Inborn genetic diseases [RCV003339973]	likely benign	2	46377904	46377904	Human	1	name
401865059	CV2757486	single nucleotide variant	NM_001430.5(EPAS1):c.136A>T (p.Ser46Cys)	Inborn genetic diseases [RCV003344537]	uncertain significance	2	46346982	46346982	Human	1	name
401865071	CV2757495	single nucleotide variant	NM_001430.5(EPAS1):c.1452C>T (p.Ser484=)	Inborn genetic diseases [RCV003344541]	likely benign	2	46378665	46378665	Human	1	name
401855834	CV2757523	single nucleotide variant	NM_001430.5(EPAS1):c.1500G>A (p.Val500=)	Inborn genetic diseases [RCV003340022]	likely benign	2	46378713	46378713	Human	1	name
401855850	CV2757548	single nucleotide variant	NM_001430.5(EPAS1):c.124C>A (p.Pro42Thr)	Inborn genetic diseases [RCV003340038]	uncertain significance	2	46346970	46346970	Human	1	name
401855864	CV2757568	single nucleotide variant	NM_001430.5(EPAS1):c.1099C>T (p.Leu367=)	Inborn genetic diseases [RCV003340052]	likely benign	2	46376603	46376603	Human	1	name
401878303	CV2790817	single nucleotide variant	NM_001430.5(EPAS1):c.1536G>A (p.Lys512=)	Inborn genetic diseases [RCV003384185]	likely benign	2	46378749	46378749	Human	1	name
401878312	CV2790822	single nucleotide variant	NM_001430.5(EPAS1):c.2031C>T (p.Ser677=)	Inborn genetic diseases [RCV003384190]	likely benign	2	46380703	46380703	Human	1	name
401878316	CV2790824	single nucleotide variant	NM_001430.5(EPAS1):c.2187T>C (p.Gly729=)	Inborn genetic diseases [RCV003384192]	likely benign	2	46381989	46381989	Human	1	name
401878320	CV2790826	single nucleotide variant	NM_001430.5(EPAS1):c.2463C>A (p.Gly821=)	Inborn genetic diseases [RCV003384194]	likely benign	2	46384510	46384510	Human	1	name
401878329	CV2790831	single nucleotide variant	NM_001430.5(EPAS1):c.133C>G (p.His45Asp)	Inborn genetic diseases [RCV003384199]	uncertain significance	2	46346979	46346979	Human	1	name
401878331	CV2790832	single nucleotide variant	NM_001430.5(EPAS1):c.1602C>T (p.Pro534=)	Inborn genetic diseases [RCV003384200]	likely benign	2	46380274	46380274	Human	1	name
401878340	CV2790837	single nucleotide variant	NM_001430.5(EPAS1):c.1611G>T (p.Gly537=)	Inborn genetic diseases [RCV003384205]	likely benign	2	46380283	46380283	Human	1	name
401911997	CV2815730	insertion	NM_001430.5(EPAS1):c.218-11_218-10insGCT	not provided [RCV003426943]	benign	2	46356140	46356141	Human		name
11592676	CV286552	single nucleotide variant	NM_001430.5(EPAS1):c.1263C>T (p.Phe421=)	Erythrocytosis, familial, 4 [RCV000341286]\|Inborn genetic diseases [RCV002411235]	likely benign\|uncertain significance	2	46377907	46377907	Human	2	name
11582449	CV286559	single nucleotide variant	NM_001430.5(EPAS1):c.2367C>T (p.Ile789=)	Erythrocytosis, familial, 4 [RCV000259831]\|Inborn genetic diseases [RCV002446596]\|not provided [RCV003727698]	likely benign\|uncertain significance	2	46382504	46382504	Human	2	name
11596209	CV286562	single nucleotide variant	NM_001430.5(EPAS1):c.2457G>A (p.Val819=)	EPAS1-related disorder [RCV003957736]\|Erythrocytosis, familial, 4 [RCV000379502]\|not provided [RCV002263612]\|not specified [RCV004596168]	benign\|likely benign\|uncertain significance	2	46382594	46382594	Human	1	name , alternate_id
11595559	CV287211	single nucleotide variant	NM_001430.5(EPAS1):c.1206G>A (p.Gln402=)	Erythrocytosis, familial, 4 [RCV000371559]	uncertain significance	2	46376710	46376710	Human	1	name
11589337	CV287214	single nucleotide variant	NM_001430.5(EPAS1):c.1908T>C (p.Asn636=)	EPAS1-related disorder [RCV003912415]\|Erythrocytosis, familial, 4 [RCV000309978]\|not provided [RCV002519982]	benign\|likely benign	2	46380580	46380580	Human	1	name , alternate_id
11590752	CV289539	single nucleotide variant	NM_001430.5(EPAS1):c.146C>A (p.Ser49Tyr)	Erythrocytosis, familial, 4 [RCV000322297]\|Inborn genetic diseases [RCV002392901]\|not provided [RCV005090525]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	46346992	46346992	Human	2	name
11588303	CV289584	single nucleotide variant	NM_001430.5(EPAS1):c.1737G>A (p.Pro579=)	Erythrocytosis, familial, 4 [RCV000301755]\|Inborn genetic diseases [RCV002402065]\|not provided [RCV002519981]	benign\|likely benign	2	46380409	46380409	Human	2	name
11598267	CV289601	single nucleotide variant	NM_001430.5(EPAS1):c.1833C>T (p.Ala611=)	Erythrocytosis, familial, 4 [RCV000403279]\|not provided [RCV000954593]	benign\|likely benign	2	46380505	46380505	Human	1	name
11594891	CV289606	single nucleotide variant	NM_001430.5(EPAS1):c.2010T>C (p.Pro670=)	Erythrocytosis, familial, 4 [RCV000364154]\|Inborn genetic diseases [RCV002418200]	benign\|likely benign	2	46380682	46380682	Human	2	name
11596089	CV290028	single nucleotide variant	NM_001430.5(EPAS1):c.2511C>T (p.Pro837=)	Erythrocytosis, familial, 4 [RCV000378133]\|not provided [RCV000964860]	benign\|likely benign	2	46384558	46384558	Human	1	name
402516379	CV2936415	insertion	NM_001430.5(EPAS1):c.218-9_218-8insGCTCT	not provided [RCV003662981]	likely benign	2	46356142	46356143	Human		name
405229719	CV2968051	single nucleotide variant	NM_001430.5(EPAS1):c.2478G>C (p.Leu826=)	not provided [RCV003682050]	likely benign	2	46384525	46384525	Human		name
405137895	CV3019525	single nucleotide variant	NM_001430.5(EPAS1):c.272A>G (p.Tyr91Cys)	not provided [RCV003702255]	uncertain significance	2	46356205	46356205	Human		name
405244727	CV3161584	single nucleotide variant	NM_001430.5(EPAS1):c.262G>C (p.Asp88His)	not provided [RCV003868297]	uncertain significance	2	46356195	46356195	Human		name
405654980	CV3382838	single nucleotide variant	NM_001430.5(EPAS1):c.1044G>A (p.Glu348=)	Inborn genetic diseases [RCV004510842]	likely benign	2	46376548	46376548	Human	1	name
405654991	CV3382841	single nucleotide variant	NM_001430.5(EPAS1):c.107A>C (p.Glu36Ala)	Inborn genetic diseases [RCV004510845]	uncertain significance	2	46346953	46346953	Human	1	name
405654995	CV3382842	single nucleotide variant	NM_001430.5(EPAS1):c.1084C>T (p.Leu362=)	Inborn genetic diseases [RCV004510846]	likely benign	2	46376588	46376588	Human	1	name
405655010	CV3382846	single nucleotide variant	NM_001430.5(EPAS1):c.1131T>C (p.Ser377=)	Inborn genetic diseases [RCV004510850]	likely benign	2	46376635	46376635	Human	1	name
405655013	CV3382847	single nucleotide variant	NM_001430.5(EPAS1):c.1165C>T (p.Leu389=)	Inborn genetic diseases [RCV004510851]	likely benign	2	46376669	46376669	Human	1	name
405655030	CV3382851	single nucleotide variant	NM_001430.5(EPAS1):c.1197G>A (p.Glu399=)	Inborn genetic diseases [RCV004510855]	likely benign	2	46376701	46376701	Human	1	name
405655064	CV3382862	single nucleotide variant	NM_001430.5(EPAS1):c.1353T>A (p.Ala451=)	Inborn genetic diseases [RCV004510865]	likely benign	2	46377997	46377997	Human	1	name
405655072	CV3382864	single nucleotide variant	NM_001430.5(EPAS1):c.1374C>A (p.Thr458=)	Inborn genetic diseases [RCV004510867]	likely benign	2	46378018	46378018	Human	1	name
405655091	CV3382869	single nucleotide variant	NM_001430.5(EPAS1):c.1419C>T (p.Thr473=)	Inborn genetic diseases [RCV004510872]	likely benign	2	46378063	46378063	Human	1	name
405655099	CV3382872	single nucleotide variant	NM_001430.5(EPAS1):c.1470A>G (p.Thr490=)	Inborn genetic diseases [RCV004510875]	likely benign	2	46378683	46378683	Human	1	name
405655101	CV3382873	single nucleotide variant	NM_001430.5(EPAS1):c.1473T>C (p.Ser491=)	Inborn genetic diseases [RCV004510876]	likely benign	2	46378686	46378686	Human	1	name
405655111	CV3382876	single nucleotide variant	NM_001430.5(EPAS1):c.149A>T (p.His50Leu)	Inborn genetic diseases [RCV004510879]	uncertain significance	2	46346995	46346995	Human	1	name
405655128	CV3382882	single nucleotide variant	NM_001430.5(EPAS1):c.1557G>T (p.Thr519=)	Inborn genetic diseases [RCV004510885]	likely benign	2	46380229	46380229	Human	1	name
405655156	CV3382890	single nucleotide variant	NM_001430.5(EPAS1):c.1698C>G (p.Ala566=)	Inborn genetic diseases [RCV004510893]	likely benign	2	46380370	46380370	Human	1	name
405655200	CV3382909	single nucleotide variant	NM_001430.5(EPAS1):c.1962C>T (p.Val654=)	Inborn genetic diseases [RCV004510912]	likely benign	2	46380634	46380634	Human	1	name
405655339	CV3382912	single nucleotide variant	NM_001430.5(EPAS1):c.1974C>G (p.Arg658=)	Inborn genetic diseases [RCV004510914]	likely benign	2	46380646	46380646	Human	1	name
405655335	CV3382914	single nucleotide variant	NM_001430.5(EPAS1):c.2007C>T (p.Pro669=)	Inborn genetic diseases [RCV004510916]	likely benign	2	46380679	46380679	Human	1	name
405655331	CV3382916	single nucleotide variant	NM_001430.5(EPAS1):c.2025T>C (p.His675=)	Inborn genetic diseases [RCV004510918]	likely benign	2	46380697	46380697	Human	1	name
405655328	CV3382917	single nucleotide variant	NM_001430.5(EPAS1):c.202A>G (p.Lys68Glu)	Inborn genetic diseases [RCV004510919]	uncertain significance	2	46347048	46347048	Human	1	name
405655321	CV3382920	single nucleotide variant	NM_001430.5(EPAS1):c.2046G>A (p.Arg682=)	Inborn genetic diseases [RCV004510922]	likely benign	2	46381596	46381596	Human	1	name
405655309	CV3382924	single nucleotide variant	NM_001430.5(EPAS1):c.2082G>T (p.Val694=)	Inborn genetic diseases [RCV004510926]	likely benign	2	46381632	46381632	Human	1	name
405655296	CV3382930	single nucleotide variant	NM_001430.5(EPAS1):c.2164C>T (p.Leu722=)	Inborn genetic diseases [RCV004510932]	likely benign	2	46381714	46381714	Human	1	name
405655293	CV3382931	single nucleotide variant	NM_001430.5(EPAS1):c.2175G>A (p.Gly725=)	Inborn genetic diseases [RCV004510933]	likely benign	2	46381977	46381977	Human	1	name
405655288	CV3382933	single nucleotide variant	NM_001430.5(EPAS1):c.220T>C (p.Cys74Arg)	Inborn genetic diseases [RCV004510935]	uncertain significance	2	46356153	46356153	Human	1	name
405655284	CV3382934	single nucleotide variant	NM_001430.5(EPAS1):c.2215C>A (p.Arg739=)	Inborn genetic diseases [RCV004510936]	likely benign	2	46382017	46382017	Human	1	name
405655209	CV3382938	single nucleotide variant	NM_001430.5(EPAS1):c.2256G>T (p.Pro752=)	Inborn genetic diseases [RCV004510940]	likely benign	2	46382058	46382058	Human	1	name
405655211	CV3382939	single nucleotide variant	NM_001430.5(EPAS1):c.2274A>C (p.Ala758=)	Inborn genetic diseases [RCV004510941]	likely benign	2	46382076	46382076	Human	1	name
405655213	CV3382940	single nucleotide variant	NM_001430.5(EPAS1):c.2274A>T (p.Ala758=)	Inborn genetic diseases [RCV004510942]	likely benign	2	46382076	46382076	Human	1	name
405655219	CV3382942	single nucleotide variant	NM_001430.5(EPAS1):c.230A>G (p.Asn77Ser)	Inborn genetic diseases [RCV004510944]	likely benign	2	46356163	46356163	Human	1	name
405655236	CV3382950	single nucleotide variant	NM_001430.5(EPAS1):c.2394G>A (p.Arg798=)	Inborn genetic diseases [RCV004510952]	likely benign	2	46382531	46382531	Human	1	name
405655239	CV3382951	single nucleotide variant	NM_001430.5(EPAS1):c.2400C>T (p.Pro800=)	Inborn genetic diseases [RCV004510953]	likely benign	2	46382537	46382537	Human	1	name
405655241	CV3382952	single nucleotide variant	NM_001430.5(EPAS1):c.2436C>T (p.Ser812=)	Inborn genetic diseases [RCV004510954]	likely benign	2	46382573	46382573	Human	1	name
405655244	CV3382953	single nucleotide variant	NM_001430.5(EPAS1):c.2472C>T (p.Ser824=)	Inborn genetic diseases [RCV004510955]	likely benign	2	46384519	46384519	Human	1	name
405655256	CV3382958	single nucleotide variant	NM_001430.5(EPAS1):c.2520C>T (p.Thr840=)	Inborn genetic diseases [RCV004510960]	likely benign	2	46384567	46384567	Human	1	name
405655267	CV3382963	single nucleotide variant	NM_001430.5(EPAS1):c.2580G>T (p.Gly860=)	Inborn genetic diseases [RCV004510965]	likely benign	2	46384627	46384627	Human	1	name
407490599	CV3431385	single nucleotide variant	NM_001430.5(EPAS1):c.1269G>A (p.Glu423=)	Inborn genetic diseases [RCV004620255]	likely benign	2	46377913	46377913	Human	1	name
407490612	CV3431390	single nucleotide variant	NM_001430.5(EPAS1):c.2478G>T (p.Leu826=)	Inborn genetic diseases [RCV004620260]	likely benign	2	46384525	46384525	Human	1	name
407490621	CV3431394	single nucleotide variant	NM_001430.5(EPAS1):c.2317C>T (p.Leu773=)	Inborn genetic diseases [RCV004620264]	likely benign	2	46382454	46382454	Human	1	name
407490657	CV3431407	single nucleotide variant	NM_001430.5(EPAS1):c.2001G>A (p.Leu667=)	Inborn genetic diseases [RCV004620277]	likely benign	2	46380673	46380673	Human	1	name
407490659	CV3431408	single nucleotide variant	NM_001430.5(EPAS1):c.166A>G (p.Ile56Val)	Inborn genetic diseases [RCV004620278]	uncertain significance	2	46347012	46347012	Human	1	name
407490670	CV3431412	single nucleotide variant	NM_001430.5(EPAS1):c.102C>G (p.Phe34Leu)	Inborn genetic diseases [RCV004620282]	uncertain significance	2	46346948	46346948	Human	1	name
407490686	CV3431418	single nucleotide variant	NM_001430.5(EPAS1):c.1863T>C (p.Cys621=)	Inborn genetic diseases [RCV004620288]	likely benign	2	46380535	46380535	Human	1	name
407490687	CV3431419	single nucleotide variant	NM_001430.5(EPAS1):c.1302G>T (p.Pro434=)	Inborn genetic diseases [RCV004620289]	likely benign	2	46377946	46377946	Human	1	name
407490700	CV3431424	single nucleotide variant	NM_001430.5(EPAS1):c.1965G>A (p.Gly655=)	Inborn genetic diseases [RCV004620294]	likely benign	2	46380637	46380637	Human	1	name
407490704	CV3431426	single nucleotide variant	NM_001430.5(EPAS1):c.1437C>T (p.Cys479=)	Inborn genetic diseases [RCV004620296]	likely benign	2	46378081	46378081	Human	1	name
407490769	CV3431453	single nucleotide variant	NM_001430.5(EPAS1):c.2316C>A (p.Gly772=)	Inborn genetic diseases [RCV004620323]	likely benign	2	46382453	46382453	Human	1	name
407490799	CV3431462	single nucleotide variant	NM_001430.5(EPAS1):c.252C>A (p.Asp84Glu)	Inborn genetic diseases [RCV004620332]	uncertain significance	2	46356185	46356185	Human	1	name
407490576	CV3435269	single nucleotide variant	NM_001430.5(EPAS1):c.1404C>T (p.Thr468=)	Inborn genetic diseases [RCV004620246]	likely benign	2	46378048	46378048	Human	1	name
407490589	CV3435274	single nucleotide variant	NM_001430.5(EPAS1):c.2328C>T (p.Pro776=)	Inborn genetic diseases [RCV004620251]	likely benign	2	46382465	46382465	Human	1	name
407490591	CV3435275	single nucleotide variant	NM_001430.5(EPAS1):c.1641C>G (p.Pro547=)	Inborn genetic diseases [RCV004620252]	likely benign	2	46380313	46380313	Human	1	name
407490593	CV3435276	single nucleotide variant	NM_001430.5(EPAS1):c.1743T>C (p.Ser581=)	Inborn genetic diseases [RCV004620253]	likely benign	2	46380415	46380415	Human	1	name
596921597	CV3535219	single nucleotide variant	NM_001430.5(EPAS1):c.170T>C (p.Met57Thr)	not provided [RCV004784778]	uncertain significance	2	46347016	46347016	Human		name
597668214	CV3664882	single nucleotide variant	NM_001430.5(EPAS1):c.2418C>G (p.Thr806=)	Inborn genetic diseases [RCV004979841]	likely benign	2	46382555	46382555	Human	1	name
597668242	CV3664886	single nucleotide variant	NM_001430.5(EPAS1):c.2571G>C (p.Leu857=)	Inborn genetic diseases [RCV004979845]	likely benign	2	46384618	46384618	Human	1	name
597668248	CV3664887	single nucleotide variant	NM_001430.5(EPAS1):c.2109C>T (p.Ser703=)	Inborn genetic diseases [RCV004979846]	likely benign	2	46381659	46381659	Human	1	name
597668264	CV3664890	single nucleotide variant	NM_001430.5(EPAS1):c.1119C>A (p.Ile373=)	Inborn genetic diseases [RCV004979849]	likely benign	2	46376623	46376623	Human	1	name
597668316	CV3664899	single nucleotide variant	NM_001430.5(EPAS1):c.2373C>G (p.Pro791=)	Inborn genetic diseases [RCV004979858]	likely benign	2	46382510	46382510	Human	1	name
597668323	CV3664900	single nucleotide variant	NM_001430.5(EPAS1):c.1030C>T (p.Leu344=)	Inborn genetic diseases [RCV004979859]	likely benign	2	46375833	46375833	Human	1	name
597668338	CV3664903	single nucleotide variant	NM_001430.5(EPAS1):c.2352G>A (p.Gln784=)	Inborn genetic diseases [RCV004979862]	likely benign	2	46382489	46382489	Human	1	name
597668368	CV3664908	single nucleotide variant	NM_001430.5(EPAS1):c.229A>G (p.Asn77Asp)	Inborn genetic diseases [RCV004979867]	uncertain significance	2	46356162	46356162	Human	1	name
597668403	CV3664914	single nucleotide variant	NM_001430.5(EPAS1):c.154G>C (p.Asp52His)	Inborn genetic diseases [RCV004979873]	uncertain significance	2	46347000	46347000	Human	1	name
597668425	CV3674500	single nucleotide variant	NM_001430.5(EPAS1):c.1146G>T (p.Val382=)	Inborn genetic diseases [RCV004979876]	likely benign	2	46376650	46376650	Human	1	name
597668432	CV3674501	single nucleotide variant	NM_001430.5(EPAS1):c.1992A>C (p.Ala664=)	Inborn genetic diseases [RCV004979877]	likely benign	2	46380664	46380664	Human	1	name
597674737	CV3674506	single nucleotide variant	NM_001430.5(EPAS1):c.2121G>A (p.Lys707=)	Inborn genetic diseases [RCV004981834]	likely benign	2	46381671	46381671	Human	1	name
597674748	CV3674507	single nucleotide variant	NM_001430.5(EPAS1):c.2490A>G (p.Ser830=)	Inborn genetic diseases [RCV004981835]	likely benign	2	46384537	46384537	Human	1	name
597674764	CV3674509	single nucleotide variant	NM_001430.5(EPAS1):c.1986G>A (p.Leu662=)	Inborn genetic diseases [RCV004981837]	likely benign	2	46380658	46380658	Human	1	name
597674823	CV3674517	single nucleotide variant	NM_001430.5(EPAS1):c.2067T>A (p.Ala689=)	Inborn genetic diseases [RCV004981845]	likely benign	2	46381617	46381617	Human	1	name
597674855	CV3674521	single nucleotide variant	NM_001430.5(EPAS1):c.1491G>A (p.Lys497=)	Inborn genetic diseases [RCV004981849]	likely benign	2	46378704	46378704	Human	1	name
597674883	CV3674524	single nucleotide variant	NM_001430.5(EPAS1):c.1134C>A (p.Gly378=)	Inborn genetic diseases [RCV004981852]	likely benign	2	46376638	46376638	Human	1	name
597674921	CV3674529	single nucleotide variant	NM_001430.5(EPAS1):c.1128C>T (p.Ser376=)	Inborn genetic diseases [RCV004981857]	likely benign	2	46376632	46376632	Human	1	name
597674929	CV3674530	single nucleotide variant	NM_001430.5(EPAS1):c.1167A>G (p.Leu389=)	Inborn genetic diseases [RCV004981858]	likely benign	2	46376671	46376671	Human	1	name
597674937	CV3674531	single nucleotide variant	NM_001430.5(EPAS1):c.1713C>T (p.Phe571=)	Inborn genetic diseases [RCV004981859]	likely benign	2	46380385	46380385	Human	1	name
597674993	CV3674539	single nucleotide variant	NM_001430.5(EPAS1):c.116A>G (p.His39Arg)	Inborn genetic diseases [RCV004981866]	uncertain significance	2	46346962	46346962	Human	1	name
597675005	CV3674541	single nucleotide variant	NM_001430.5(EPAS1):c.2181A>C (p.Pro727=)	Inborn genetic diseases [RCV004981868]	likely benign	2	46381983	46381983	Human	1	name
597675013	CV3674542	single nucleotide variant	NM_001430.5(EPAS1):c.2157C>T (p.Phe719=)	Inborn genetic diseases [RCV004981869]	likely benign	2	46381707	46381707	Human	1	name
597675023	CV3674543	single nucleotide variant	NM_001430.5(EPAS1):c.1275A>G (p.Ser425=)	Inborn genetic diseases [RCV004981870]	likely benign	2	46377919	46377919	Human	1	name
597675038	CV3674545	single nucleotide variant	NM_001430.5(EPAS1):c.1239T>C (p.Ser413=)	Inborn genetic diseases [RCV004981872]	likely benign	2	46376743	46376743	Human	1	name
597675044	CV3674546	single nucleotide variant	NM_001430.5(EPAS1):c.295A>T (p.Ile99Phe)	Inborn genetic diseases [RCV004981873]	uncertain significance	2	46356228	46356228	Human	1	name
597675065	CV3674549	single nucleotide variant	NM_001430.5(EPAS1):c.272A>T (p.Tyr91Phe)	Inborn genetic diseases [RCV004981876]	uncertain significance	2	46356205	46356205	Human	1	name
597675149	CV3674561	single nucleotide variant	NM_001430.5(EPAS1):c.2328C>A (p.Pro776=)	Inborn genetic diseases [RCV004981888]	likely benign	2	46382465	46382465	Human	1	name
597675194	CV3674566	single nucleotide variant	NM_001430.5(EPAS1):c.1683G>A (p.Gln561=)	Inborn genetic diseases [RCV004981893]	likely benign	2	46380355	46380355	Human	1	name
597675202	CV3674567	single nucleotide variant	NM_001430.5(EPAS1):c.2445A>G (p.Ser815=)	Inborn genetic diseases [RCV004981894]	likely benign	2	46382582	46382582	Human	1	name
597675214	CV3674569	single nucleotide variant	NM_001430.5(EPAS1):c.283T>G (p.Leu95Val)	Inborn genetic diseases [RCV004981896]	uncertain significance	2	46356216	46356216	Human	1	name
597675248	CV3674573	single nucleotide variant	NM_001430.5(EPAS1):c.148C>T (p.His50Tyr)	Inborn genetic diseases [RCV004981900]	uncertain significance	2	46346994	46346994	Human	1	name
597675300	CV3674581	single nucleotide variant	NM_001430.5(EPAS1):c.1464T>C (p.Tyr488=)	Inborn genetic diseases [RCV004981908]	likely benign	2	46378677	46378677	Human	1	name
597675306	CV3674582	single nucleotide variant	NM_001430.5(EPAS1):c.1680C>T (p.Pro560=)	Inborn genetic diseases [RCV004981909]	likely benign	2	46380352	46380352	Human	1	name
597675327	CV3674585	single nucleotide variant	NM_001430.5(EPAS1):c.1929A>C (p.Pro643=)	Inborn genetic diseases [RCV004981912]	likely benign	2	46380601	46380601	Human	1	name
597675342	CV3674587	single nucleotide variant	NM_001430.5(EPAS1):c.2361T>C (p.Ser787=)	Inborn genetic diseases [RCV004981914]	likely benign	2	46382498	46382498	Human	1	name
597675371	CV3674591	single nucleotide variant	NM_001430.5(EPAS1):c.2133G>A (p.Gln711=)	Inborn genetic diseases [RCV004981918]	likely benign	2	46381683	46381683	Human	1	name
597675394	CV3674593	single nucleotide variant	NM_001430.5(EPAS1):c.2535G>A (p.Glu845=)	Inborn genetic diseases [RCV004981920]	likely benign	2	46384582	46384582	Human	1	name
597877575	CV3744273	single nucleotide variant	NM_001430.5(EPAS1):c.1551C>G (p.Thr517=)	not provided [RCV005069487]	likely benign	2	46378764	46378764	Human		name
597941038	CV3757327	single nucleotide variant	NM_001430.5(EPAS1):c.2418C>T (p.Thr806=)	not provided [RCV005077513]	likely benign	2	46382555	46382555	Human		name
597897107	CV3782281	single nucleotide variant	NM_001430.5(EPAS1):c.1101G>A (p.Leu367=)	not provided [RCV005126506]	likely benign	2	46376605	46376605	Human		name
597884109	CV3799561	single nucleotide variant	NM_001430.5(EPAS1):c.1317C>T (p.Ala439=)	not provided [RCV005150228]	likely benign	2	46377961	46377961	Human		name
13216455	CV428060	single nucleotide variant	NM_001430.5(EPAS1):c.1281T>C (p.Tyr427=)	Erythrocytosis, familial, 4 [RCV001141208]\|Inborn genetic diseases [RCV002376920]\|not provided [RCV005091094]\|not specified [RCV000503785]	likely benign\|uncertain significance	2	46377925	46377925	Human	2	name
15158039	CV708296	single nucleotide variant	NM_001430.5(EPAS1):c.1113C>T (p.Asn371=)	Inborn genetic diseases [RCV002434327]\|not provided [RCV000969429]	benign\|likely benign	2	46376617	46376617	Human	1	name
15120927	CV733496	single nucleotide variant	NM_001430.5(EPAS1):c.1191C>T (p.Pro397=)	EPAS1-related disorder [RCV003950465]\|Inborn genetic diseases [RCV002336879]\|not provided [RCV000895975]	benign\|likely benign	2	46376695	46376695	Human	2	name , alternate_id
15201751	CV747658	single nucleotide variant	NM_001430.5(EPAS1):c.1218C>G (p.Thr406=)	Inborn genetic diseases [RCV002363364]\|not provided [RCV000913232]	benign\|likely benign	2	46376722	46376722	Human	1	name
15196252	CV747659	single nucleotide variant	NM_001430.5(EPAS1):c.1380C>T (p.Pro460=)	Inborn genetic diseases [RCV002382069]\|not provided [RCV000911645]	likely benign	2	46378024	46378024	Human	1	name
8630371	CV85526	single nucleotide variant	NM_001430.5(EPAS1):c.224C>T (p.Ser75Phe)	Inborn genetic diseases [RCV002420224]	uncertain significance\|not provided	2	46356157	46356157	Human	1	name
28900868	CV885039	single nucleotide variant	NM_001430.5(EPAS1):c.238G>A (p.Glu80Lys)	Erythrocytosis, familial, 4 [RCV001142940]\|Inborn genetic diseases [RCV002429778]\|not provided [RCV003769683]	likely benign\|uncertain significance	2	46356171	46356171	Human	2	name
28889200	CV885045	single nucleotide variant	NM_001430.5(EPAS1):c.1077T>C (p.Thr359=)	Erythrocytosis, familial, 4 [RCV001138628]\|Inborn genetic diseases [RCV002418593]\|not provided [RCV003413946]	benign\|likely benign	2	46376581	46376581	Human	2	name
28896337	CV885046	single nucleotide variant	NM_001430.5(EPAS1):c.1203C>A (p.Ala401=)	Erythrocytosis, familial, 4 [RCV001141206]\|Inborn genetic diseases [RCV002348579]	likely benign\|uncertain significance	2	46376707	46376707	Human	2	name
28896340	CV885047	single nucleotide variant	NM_001430.5(EPAS1):c.1248C>T (p.Phe416=)	Erythrocytosis, familial, 4 [RCV001141207]\|Inborn genetic diseases [RCV002393366]\|not provided [RCV003456476]	likely benign\|uncertain significance	2	46376752	46376752	Human	2	name
28901141	CV885049	single nucleotide variant	NM_001430.5(EPAS1):c.1821C>T (p.Ile607=)	Erythrocytosis, familial, 4 [RCV001143054]	uncertain significance	2	46380493	46380493	Human	1	name
28888162	CV885052	single nucleotide variant	NM_001430.5(EPAS1):c.2166G>A (p.Leu722=)	Erythrocytosis, familial, 4 [RCV001138306]\|Inborn genetic diseases [RCV002429774]\|not provided [RCV002556946]	benign\|likely benign	2	46381716	46381716	Human	2	name
155715347	CV1784916	single nucleotide variant	NM_001430.5(EPAS1):c.308C>T (p.Thr103Ile)	Inborn genetic diseases [RCV002325776]	uncertain significance	2	46356241	46356241	Human	1	name
155709412	CV1785448	single nucleotide variant	NM_001430.5(EPAS1):c.322A>G (p.Met108Val)	Inborn genetic diseases [RCV002324715]	uncertain significance	2	46356255	46356255	Human	1	name
155663778	CV1785796	single nucleotide variant	NM_001430.5(EPAS1):c.337G>A (p.Glu113Lys)	Inborn genetic diseases [RCV002451817]	uncertain significance	2	46356270	46356270	Human	1	name
155663946	CV1785863	single nucleotide variant	NM_001430.5(EPAS1):c.338A>C (p.Glu113Ala)	Inborn genetic diseases [RCV002451884]	uncertain significance	2	46356271	46356271	Human	1	name
155691206	CV1786044	single nucleotide variant	NM_001430.5(EPAS1):c.352T>C (p.Phe118Leu)	Inborn genetic diseases [RCV002459403]	uncertain significance	2	46356285	46356285	Human	1	name
155729486	CV1786245	single nucleotide variant	NM_001430.5(EPAS1):c.354C>A (p.Phe118Leu)	Inborn genetic diseases [RCV002339725]	uncertain significance	2	46356287	46356287	Human	1	name
155729499	CV1786249	single nucleotide variant	NM_001430.5(EPAS1):c.354C>G (p.Phe118Leu)	Inborn genetic diseases [RCV002339728]	uncertain significance	2	46356287	46356287	Human	1	name
155729737	CV1786361	single nucleotide variant	NM_001430.5(EPAS1):c.355A>G (p.Met119Val)	Inborn genetic diseases [RCV002339768]	uncertain significance	2	46356288	46356288	Human	1	name
155664939	CV1787143	single nucleotide variant	NM_001430.5(EPAS1):c.389G>C (p.Ser130Thr)	Inborn genetic diseases [RCV002366394]	uncertain significance	2	46356743	46356743	Human	1	name
155665596	CV1792926	single nucleotide variant	NM_001430.5(EPAS1):c.361C>T (p.Leu121Phe)	Inborn genetic diseases [RCV002452283]	uncertain significance	2	46356294	46356294	Human	1	name
155695363	CV1793731	single nucleotide variant	NM_001430.5(EPAS1):c.397G>A (p.Asp133Asn)	Inborn genetic diseases [RCV002357734]	uncertain significance	2	46356751	46356751	Human	1	name
155716532	CV1794592	single nucleotide variant	NM_001430.5(EPAS1):c.310C>A (p.Gln104Lys)	Inborn genetic diseases [RCV002326064]	uncertain significance	2	46356243	46356243	Human	1	name
155694961	CV1796709	single nucleotide variant	NM_001430.5(EPAS1):c.391A>G (p.Ile131Val)	Inborn genetic diseases [RCV002321106]	uncertain significance	2	46356745	46356745	Human	1	name
155740906	CV1797382	single nucleotide variant	NM_001430.5(EPAS1):c.413G>A (p.Cys138Tyr)	Inborn genetic diseases [RCV002333125]	uncertain significance	2	46356767	46356767	Human	1	name
155734612	CV1797690	single nucleotide variant	NM_001430.5(EPAS1):c.427A>C (p.Ile143Leu)	Inborn genetic diseases [RCV002330095]	uncertain significance	2	46356781	46356781	Human	1	name
155706947	CV1798513	single nucleotide variant	NM_001430.5(EPAS1):c.466G>T (p.Gly156Trp)	Inborn genetic diseases [RCV002335150]\|not provided [RCV005096623]	uncertain significance	2	46360649	46360649	Human	1	name
155734529	CV1798919	single nucleotide variant	NM_001430.5(EPAS1):c.490A>G (p.Thr164Ala)	Inborn genetic diseases [RCV002340683]	uncertain significance	2	46360673	46360673	Human	1	name
155672302	CV1798998	single nucleotide variant	NM_001430.5(EPAS1):c.491C>G (p.Thr164Arg)	Inborn genetic diseases [RCV002351254]	uncertain significance	2	46360674	46360674	Human	1	name
155742187	CV1799704	single nucleotide variant	NM_001430.5(EPAS1):c.520T>G (p.Cys174Gly)	Inborn genetic diseases [RCV002344268]\|not provided [RCV002511158]	uncertain significance	2	46360703	46360703	Human	1	name
155667769	CV1799791	single nucleotide variant	NM_001430.5(EPAS1):c.542G>A (p.Arg181His)	Inborn genetic diseases [RCV002349545]	uncertain significance	2	46360725	46360725	Human	1	name
155668723	CV1799952	single nucleotide variant	NM_001430.5(EPAS1):c.545C>T (p.Thr182Ile)	Inborn genetic diseases [RCV002349706]	uncertain significance	2	46360728	46360728	Human	1	name
155669592	CV1800096	single nucleotide variant	NM_001430.5(EPAS1):c.547G>T (p.Val183Phe)	Inborn genetic diseases [RCV002349850]	uncertain significance	2	46360730	46360730	Human	1	name
155733158	CV1801983	single nucleotide variant	NM_001430.5(EPAS1):c.485T>C (p.Met162Thr)	Inborn genetic diseases [RCV002340345]	uncertain significance	2	46360668	46360668	Human	1	name
155740088	CV1802132	single nucleotide variant	NM_001430.5(EPAS1):c.487T>G (p.Ser163Ala)	Inborn genetic diseases [RCV002332386]	uncertain significance	2	46360670	46360670	Human	1	name
155745734	CV1802970	single nucleotide variant	NM_001430.5(EPAS1):c.538G>A (p.Gly180Ser)	Inborn genetic diseases [RCV002347179]	uncertain significance	2	46360721	46360721	Human	1	name
155688653	CV1803881	single nucleotide variant	NM_001430.5(EPAS1):c.595G>C (p.Val199Leu)	Inborn genetic diseases [RCV002356035]	uncertain significance	2	46360906	46360906	Human	1	name
155666267	CV1804276	single nucleotide variant	NM_001430.5(EPAS1):c.624C>A (p.His208Gln)	Inborn genetic diseases [RCV002366654]	uncertain significance	2	46360935	46360935	Human	1	name
155666270	CV1804277	single nucleotide variant	NM_001430.5(EPAS1):c.624C>G (p.His208Gln)	Inborn genetic diseases [RCV002366655]	uncertain significance	2	46360935	46360935	Human	1	name
155672309	CV1804388	single nucleotide variant	NM_001430.5(EPAS1):c.626A>G (p.Asn209Ser)	Inborn genetic diseases [RCV002368646]	likely benign	2	46360937	46360937	Human	1	name
155690240	CV1804425	single nucleotide variant	NM_001430.5(EPAS1):c.649C>T (p.Pro217Ser)	Inborn genetic diseases [RCV002356266]	uncertain significance	2	46360960	46360960	Human	1	name
155737279	CV1805495	single nucleotide variant	NM_001430.5(EPAS1):c.481G>C (p.Asp161His)	Inborn genetic diseases [RCV002330758]	uncertain significance	2	46360664	46360664	Human	1	name
155737307	CV1805550	single nucleotide variant	NM_001430.5(EPAS1):c.482A>G (p.Asp161Gly)	Inborn genetic diseases [RCV002330768]	uncertain significance	2	46360665	46360665	Human	1	name
155743448	CV1806785	single nucleotide variant	NM_001430.5(EPAS1):c.559T>A (p.Ser187Thr)	Inborn genetic diseases [RCV002344866]	uncertain significance	2	46360742	46360742	Human	1	name
155687033	CV1807340	single nucleotide variant	NM_001430.5(EPAS1):c.589G>A (p.Gly197Ser)	Inborn genetic diseases [RCV002355666]	uncertain significance	2	46360900	46360900	Human	1	name
155705826	CV1807389	single nucleotide variant	NM_001430.5(EPAS1):c.611A>G (p.Asn204Ser)	Inborn genetic diseases [RCV002360256]	uncertain significance	2	46360922	46360922	Human	1	name
155706235	CV1807559	single nucleotide variant	NM_001430.5(EPAS1):c.614G>A (p.Cys205Tyr)	Inborn genetic diseases [RCV002360426]	uncertain significance	2	46360925	46360925	Human	1	name
155681648	CV1807733	single nucleotide variant	NM_001430.5(EPAS1):c.617C>T (p.Pro206Leu)	Inborn genetic diseases [RCV002353759]\|not provided [RCV005058461]	uncertain significance	2	46360928	46360928	Human	1	name
155684036	CV1808087	single nucleotide variant	NM_001430.5(EPAS1):c.646G>C (p.Glu216Gln)	Inborn genetic diseases [RCV002354141]	uncertain significance	2	46360957	46360957	Human	1	name
155731538	CV1808631	single nucleotide variant	NM_001430.5(EPAS1):c.452A>G (p.Asn151Ser)	Inborn genetic diseases [RCV002340031]	uncertain significance	2	46356806	46356806	Human	1	name
155709148	CV1808841	single nucleotide variant	NM_001430.5(EPAS1):c.473A>G (p.Lys158Arg)	Inborn genetic diseases [RCV002335508]	uncertain significance	2	46360656	46360656	Human	1	name
155719006	CV1809036	single nucleotide variant	NM_001430.5(EPAS1):c.476G>A (p.Ser159Asn)	Inborn genetic diseases [RCV002337721]	uncertain significance	2	46360659	46360659	Human	1	name
155740688	CV1809587	single nucleotide variant	NM_001430.5(EPAS1):c.501C>G (p.Asp167Glu)	Inborn genetic diseases [RCV002343139]\|not provided [RCV005096718]	uncertain significance	2	46360684	46360684	Human	1	name
155735175	CV1809833	single nucleotide variant	NM_001430.5(EPAS1):c.524C>T (p.Thr175Met)	Inborn genetic diseases [RCV002340940]	uncertain significance	2	46360707	46360707	Human	1	name
155742446	CV1809984	single nucleotide variant	NM_001430.5(EPAS1):c.526G>A (p.Val176Ile)	Inborn genetic diseases [RCV002344385]	uncertain significance	2	46360709	46360709	Human	1	name
155742458	CV1809990	single nucleotide variant	NM_001430.5(EPAS1):c.526G>C (p.Val176Leu)	Inborn genetic diseases [RCV002344393]	uncertain significance	2	46360709	46360709	Human	1	name
155705669	CV1811276	single nucleotide variant	NM_001430.5(EPAS1):c.610A>G (p.Asn204Asp)	Inborn genetic diseases [RCV002360203]	uncertain significance	2	46360921	46360921	Human	1	name
155673940	CV1811329	single nucleotide variant	NM_001430.5(EPAS1):c.634T>C (p.Cys212Arg)	Inborn genetic diseases [RCV002368979]	uncertain significance	2	46360945	46360945	Human	1	name
155683821	CV1811550	single nucleotide variant	NM_001430.5(EPAS1):c.638G>A (p.Gly213Asp)	Inborn genetic diseases [RCV002354098]	uncertain significance	2	46360949	46360949	Human	1	name
155707267	CV1812331	single nucleotide variant	NM_001430.5(EPAS1):c.691C>A (p.His231Asn)	Inborn genetic diseases [RCV002378098]	uncertain significance	2	46361002	46361002	Human	1	name
155681304	CV1812823	single nucleotide variant	NM_001430.5(EPAS1):c.725A>C (p.Lys242Thr)	Inborn genetic diseases [RCV002371136]	uncertain significance	2	46361036	46361036	Human	1	name
155727895	CV1812830	single nucleotide variant	NM_001430.5(EPAS1):c.725A>T (p.Lys242Met)	Inborn genetic diseases [RCV002382524]	uncertain significance	2	46361036	46361036	Human	1	name
155728494	CV1812975	single nucleotide variant	NM_001430.5(EPAS1):c.728C>A (p.Thr243Asn)	Inborn genetic diseases [RCV002382669]	uncertain significance	2	46361039	46361039	Human	1	name
155747294	CV1813536	single nucleotide variant	NM_001430.5(EPAS1):c.791T>C (p.Leu264Pro)	Inborn genetic diseases [RCV002416732]	uncertain significance	2	46369838	46369838	Human	1	name
155682926	CV1814928	single nucleotide variant	NM_001430.5(EPAS1):c.925A>C (p.Met309Leu)	Inborn genetic diseases [RCV002371403]	uncertain significance	2	46375728	46375728	Human	1	name
155683282	CV1814995	single nucleotide variant	NM_001430.5(EPAS1):c.927G>A (p.Met309Ile)	Inborn genetic diseases [RCV002371458]\|not provided [RCV004697223]	uncertain significance	2	46375730	46375730	Human	1	name
155670925	CV1815539	single nucleotide variant	NM_001430.5(EPAS1):c.713C>A (p.Pro238His)	Inborn genetic diseases [RCV002367486]	uncertain significance	2	46361024	46361024	Human	1	name
155697069	CV1816235	single nucleotide variant	NM_001430.5(EPAS1):c.751G>A (p.Asp251Asn)	Inborn genetic diseases [RCV002393828]	uncertain significance	2	46361062	46361062	Human	1	name
155747228	CV1816783	single nucleotide variant	NM_001430.5(EPAS1):c.790C>G (p.Leu264Val)	Inborn genetic diseases [RCV002416672]	uncertain significance	2	46369837	46369837	Human	1	name
155698398	CV1816911	single nucleotide variant	NM_001430.5(EPAS1):c.821G>C (p.Gly274Ala)	Inborn genetic diseases [RCV002427988]	uncertain significance	2	46369868	46369868	Human	1	name
155708151	CV1817198	single nucleotide variant	NM_001430.5(EPAS1):c.829G>A (p.Ala277Thr)	Inborn genetic diseases [RCV002430311]	uncertain significance	2	46369876	46369876	Human	1	name
155681582	CV1817251	single nucleotide variant	NM_001430.5(EPAS1):c.863A>C (p.Asn288Thr)	Inborn genetic diseases [RCV002371189]	uncertain significance	2	46369910	46369910	Human	1	name
155721681	CV1817332	single nucleotide variant	NM_001430.5(EPAS1):c.865A>C (p.Met289Leu)	Inborn genetic diseases [RCV002449649]	uncertain significance	2	46369912	46369912	Human	1	name
155710368	CV1817655	single nucleotide variant	NM_001430.5(EPAS1):c.907G>A (p.Val303Ile)	Inborn genetic diseases [RCV002378581]	uncertain significance	2	46375710	46375710	Human	1	name
155724477	CV1817694	single nucleotide variant	NM_001430.5(EPAS1):c.908T>C (p.Val303Ala)	Inborn genetic diseases [RCV002449997]	uncertain significance	2	46375711	46375711	Human	1	name
155712655	CV1818008	single nucleotide variant	NM_001430.5(EPAS1):c.917A>G (p.Gln306Arg)	Inborn genetic diseases [RCV002378878]	uncertain significance	2	46375720	46375720	Human	1	name
155713009	CV1818061	single nucleotide variant	NM_001430.5(EPAS1):c.918G>C (p.Gln306His)	Inborn genetic diseases [RCV002378920]	uncertain significance	2	46375721	46375721	Human	1	name
155675496	CV1818530	single nucleotide variant	NM_001430.5(EPAS1):c.674T>C (p.Met225Thr)	Inborn genetic diseases [RCV002369223]	uncertain significance	2	46360985	46360985	Human	1	name
155727690	CV1818888	single nucleotide variant	NM_001430.5(EPAS1):c.704T>G (p.Met235Arg)	Inborn genetic diseases [RCV002364979]	uncertain significance	2	46361015	46361015	Human	1	name
155729936	CV1819782	single nucleotide variant	NM_001430.5(EPAS1):c.772G>C (p.Asp258His)	Inborn genetic diseases [RCV002400730]	uncertain significance	2	46361083	46361083	Human	1	name
155730106	CV1819810	single nucleotide variant	NM_001430.5(EPAS1):c.773A>G (p.Asp258Gly)	Inborn genetic diseases [RCV002400758]	uncertain significance	2	46361084	46361084	Human	1	name
155700052	CV1820994	single nucleotide variant	NM_001430.5(EPAS1):c.898G>A (p.Gly300Ser)	Inborn genetic diseases [RCV002376286]	uncertain significance	2	46375701	46375701	Human	1	name
155700063	CV1820997	single nucleotide variant	NM_001430.5(EPAS1):c.898G>C (p.Gly300Arg)	Inborn genetic diseases [RCV002376289]	uncertain significance	2	46375701	46375701	Human	1	name
155724018	CV1821023	single nucleotide variant	NM_001430.5(EPAS1):c.899G>A (p.Gly300Asp)	Inborn genetic diseases [RCV002449945]	uncertain significance	2	46375702	46375702	Human	1	name
155709918	CV1821269	single nucleotide variant	NM_001430.5(EPAS1):c.905T>C (p.Val302Ala)	Inborn genetic diseases [RCV002378525]	uncertain significance	2	46375708	46375708	Human	1	name
155694727	CV1821428	single nucleotide variant	NM_001430.5(EPAS1):c.947A>T (p.Tyr316Phe)	Inborn genetic diseases [RCV002443510]	uncertain significance	2	46375750	46375750	Human	1	name
155691881	CV1821490	single nucleotide variant	NM_001430.5(EPAS1):c.949G>C (p.Val317Leu)	Inborn genetic diseases [RCV002374109]	uncertain significance	2	46375752	46375752	Human	1	name
155726738	CV1822272	single nucleotide variant	NM_001430.5(EPAS1):c.698C>T (p.Ser233Phe)	Inborn genetic diseases [RCV002364668]	uncertain significance	2	46361009	46361009	Human	1	name
155727216	CV1822482	single nucleotide variant	NM_001430.5(EPAS1):c.700C>T (p.His234Tyr)	Inborn genetic diseases [RCV002364817]	uncertain significance	2	46361011	46361011	Human	1	name
155708260	CV1822631	single nucleotide variant	NM_001430.5(EPAS1):c.703A>G (p.Met235Val)	Inborn genetic diseases [RCV002378273]	uncertain significance	2	46361014	46361014	Human	1	name
155707843	CV1823158	single nucleotide variant	NM_001430.5(EPAS1):c.763A>G (p.Thr255Ala)	Inborn genetic diseases [RCV002396340]	uncertain significance	2	46361074	46361074	Human	1	name
155728952	CV1823426	single nucleotide variant	NM_001430.5(EPAS1):c.769T>G (p.Cys257Gly)	Inborn genetic diseases [RCV002400566]	uncertain significance	2	46361080	46361080	Human	1	name
155742555	CV1823729	single nucleotide variant	NM_001430.5(EPAS1):c.804C>A (p.His268Gln)	Inborn genetic diseases [RCV002412447]	uncertain significance	2	46369851	46369851	Human	1	name
155667547	CV1823881	single nucleotide variant	NM_001430.5(EPAS1):c.808G>A (p.Glu270Lys)	Inborn genetic diseases [RCV002419424]	uncertain significance	2	46369855	46369855	Human	1	name
155712627	CV1824289	single nucleotide variant	NM_001430.5(EPAS1):c.848C>T (p.Ala283Val)	Inborn genetic diseases [RCV002447660]	uncertain significance	2	46369895	46369895	Human	1	name
155672847	CV1825402	single nucleotide variant	NM_001430.5(EPAS1):c.971C>T (p.Thr324Met)	Inborn genetic diseases [RCV002387033]	uncertain significance	2	46375774	46375774	Human	1	name
155730480	CV1825791	single nucleotide variant	NM_001430.5(EPAS1):c.997C>A (p.Gln333Lys)	Inborn genetic diseases [RCV002383008]	uncertain significance	2	46375800	46375800	Human	1	name
155674243	CV1828765	single nucleotide variant	NM_001430.5(EPAS1):c.983A>G (p.Asn328Ser)	Inborn genetic diseases [RCV002387263]	uncertain significance	2	46375786	46375786	Human	1	name
155674247	CV1828766	single nucleotide variant	NM_001430.5(EPAS1):c.983A>T (p.Asn328Ile)	Inborn genetic diseases [RCV002387264]	uncertain significance	2	46375786	46375786	Human	1	name
155674843	CV1828855	single nucleotide variant	NM_001430.5(EPAS1):c.986C>T (p.Pro329Leu)	Inborn genetic diseases [RCV002387354]\|not provided [RCV005058580]	uncertain significance	2	46375789	46375789	Human	1	name
155675307	CV1828929	single nucleotide variant	NM_001430.5(EPAS1):c.989G>A (p.Arg330His)	Inborn genetic diseases [RCV002387428]	uncertain significance	2	46375792	46375792	Human	1	name
155729789	CV1829101	single nucleotide variant	NM_001430.5(EPAS1):c.994C>G (p.Leu332Val)	Inborn genetic diseases [RCV002382909]	uncertain significance	2	46375797	46375797	Human	1	name
156220356	CV2104758	single nucleotide variant	NM_001430.5(EPAS1):c.818T>G (p.Leu273Arg)	Inborn genetic diseases [RCV003170576]\|not provided [RCV002932432]	likely benign	2	46369865	46369865	Human	1	name
155916023	CV2281845	single nucleotide variant	NM_001430.5(EPAS1):c.609C>A (p.Asn203Lys)	Inborn genetic diseases [RCV002858972]	uncertain significance	2	46360920	46360920	Human	1	name
155939834	CV2378861	single nucleotide variant	NM_001430.5(EPAS1):c.484A>G (p.Met162Val)	Inborn genetic diseases [RCV002730018]	uncertain significance	2	46360667	46360667	Human	1	name
155939950	CV2378942	single nucleotide variant	NM_001430.5(EPAS1):c.667A>C (p.Ile223Leu)	Inborn genetic diseases [RCV002730032]	uncertain significance	2	46360978	46360978	Human	1	name
156099776	CV2378978	single nucleotide variant	NM_001430.5(EPAS1):c.301G>A (p.Val101Met)	Inborn genetic diseases [RCV002739028]	likely benign	2	46356234	46356234	Human	1	name
329368582	CV2426281	single nucleotide variant	NM_001430.5(EPAS1):c.683C>G (p.Pro228Arg)	Inborn genetic diseases [RCV003171382]	uncertain significance	2	46360994	46360994	Human	1	name
329374604	CV2430956	single nucleotide variant	NM_001430.5(EPAS1):c.722G>A (p.Ser241Asn)	Inborn genetic diseases [RCV003173500]\|not provided [RCV003549006]	likely benign\|uncertain significance	2	46361033	46361033	Human	1	name
329374851	CV2431070	single nucleotide variant	NM_001430.5(EPAS1):c.497G>A (p.Arg166Gln)	Inborn genetic diseases [RCV003173614]	uncertain significance	2	46360680	46360680	Human	1	name
329374910	CV2431091	single nucleotide variant	NM_001430.5(EPAS1):c.949G>A (p.Val317Met)	Inborn genetic diseases [RCV003173635]	uncertain significance	2	46375752	46375752	Human	1	name
329375025	CV2431108	single nucleotide variant	NM_001430.5(EPAS1):c.301G>C (p.Val101Leu)	Inborn genetic diseases [RCV003173652]	uncertain significance	2	46356234	46356234	Human	1	name
329356887	CV2431182	single nucleotide variant	NM_001430.5(EPAS1):c.718G>A (p.Asp240Asn)	Inborn genetic diseases [RCV003178406]	uncertain significance	2	46361029	46361029	Human	1	name
329356945	CV2431201	single nucleotide variant	NM_001430.5(EPAS1):c.764C>T (p.Thr255Ile)	Inborn genetic diseases [RCV003178426]	uncertain significance	2	46361075	46361075	Human	1	name
329357085	CV2431242	single nucleotide variant	NM_001430.5(EPAS1):c.343A>G (p.Ile115Val)	Inborn genetic diseases [RCV003178467]	uncertain significance	2	46356276	46356276	Human	1	name
329373864	CV2434640	single nucleotide variant	NM_001430.5(EPAS1):c.817C>T (p.Leu273Phe)	Inborn genetic diseases [RCV003173264]	uncertain significance	2	46369864	46369864	Human	1	name
329374035	CV2434675	single nucleotide variant	NM_001430.5(EPAS1):c.481G>A (p.Asp161Asn)	Inborn genetic diseases [RCV003173300]\|not provided [RCV005101207]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	46360664	46360664	Human	1	name
329374224	CV2434741	single nucleotide variant	NM_001430.5(EPAS1):c.587C>T (p.Thr196Met)	Erythrocytosis, familial, 4 [RCV003485863]\|Inborn genetic diseases [RCV003173366]\|not provided [RCV005101210]	likely benign\|uncertain significance	2	46360898	46360898	Human	2	name
329374276	CV2434759	single nucleotide variant	NM_001430.5(EPAS1):c.916C>G (p.Gln306Glu)	Inborn genetic diseases [RCV003173384]	uncertain significance	2	46375719	46375719	Human	1	name
329361349	CV2459648	single nucleotide variant	NM_001430.5(EPAS1):c.327C>G (p.Ile109Met)	Inborn genetic diseases [RCV003205498]	uncertain significance	2	46356260	46356260	Human	1	name
329384088	CV2472648	single nucleotide variant	NM_001430.5(EPAS1):c.458C>G (p.Ser153Cys)	Inborn genetic diseases [RCV003214020]	uncertain significance	2	46360641	46360641	Human	1	name
329384100	CV2472652	single nucleotide variant	NM_001430.5(EPAS1):c.656T>A (p.Leu219Gln)	Inborn genetic diseases [RCV003214024]	uncertain significance	2	46360967	46360967	Human	1	name
401865141	CV2757559	single nucleotide variant	NM_001430.5(EPAS1):c.860A>C (p.Glu287Ala)	Inborn genetic diseases [RCV003344566]	uncertain significance	2	46369907	46369907	Human	1	name
11591200	CV290014	single nucleotide variant	NM_001430.5(EPAS1):c.882G>C (p.Gln294His)	Erythrocytosis, familial, 4 [RCV000326608]	uncertain significance	2	46369929	46369929	Human	1	name
405655348	CV3382972	single nucleotide variant	NM_001430.5(EPAS1):c.357G>A (p.Met119Ile)	Inborn genetic diseases [RCV004510974]	uncertain significance	2	46356290	46356290	Human	1	name
405655356	CV3382975	single nucleotide variant	NM_001430.5(EPAS1):c.455G>A (p.Gly152Asp)	Inborn genetic diseases [RCV004510977]	uncertain significance	2	46360638	46360638	Human	1	name
405655358	CV3382976	single nucleotide variant	NM_001430.5(EPAS1):c.461G>C (p.Gly154Ala)	Inborn genetic diseases [RCV004510978]	uncertain significance	2	46360644	46360644	Human	1	name
405655360	CV3382977	single nucleotide variant	NM_001430.5(EPAS1):c.465T>G (p.Phe155Leu)	Inborn genetic diseases [RCV004510979]	uncertain significance	2	46360648	46360648	Human	1	name
405655363	CV3382978	single nucleotide variant	NM_001430.5(EPAS1):c.469A>C (p.Lys157Gln)	Inborn genetic diseases [RCV004510980]	uncertain significance	2	46360652	46360652	Human	1	name
405655365	CV3382979	single nucleotide variant	NM_001430.5(EPAS1):c.469A>G (p.Lys157Glu)	Inborn genetic diseases [RCV004510981]	uncertain significance	2	46360652	46360652	Human	1	name
405655368	CV3382980	single nucleotide variant	NM_001430.5(EPAS1):c.506T>C (p.Phe169Ser)	Inborn genetic diseases [RCV004510982]	uncertain significance	2	46360689	46360689	Human	1	name
28887828	CV885041	single nucleotide variant	NM_001430.5(EPAS1):c.587C>A (p.Thr196Lys)	Erythrocytosis, familial, 4 [RCV001138204]\|not provided [RCV005093612]	likely benign	2	46360898	46360898	Human	1	name
28887834	CV885043	single nucleotide variant	NM_001430.5(EPAS1):c.859G>A (p.Glu287Lys)	Erythrocytosis, familial, 4 [RCV001138206]\|Inborn genetic diseases [RCV003163300]	likely benign	2	46369906	46369906	Human	2	name
11584626	CV290023	single nucleotide variant	NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro)	EPAS1-related disorder [RCV003969966]\|Erythrocytosis, familial, 4 [RCV000275210]\|not provided [RCV001712066]	benign	2	46382433	46382433	Human	1	alternate_id
11590369	CV290024	single nucleotide variant	NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr)	EPAS1-related disorder [RCV003912416]\|Erythrocytosis, familial, 4 [RCV000318592]\|not provided [RCV001711951]	benign	2	46382490	46382490	Human	1	alternate_id
597958908	CV3751883	indel	NM_001430.5(EPAS1):c.1444-8_1444-7delinsTT	not provided [RCV005081012]	uncertain significance	2	46378649	46378650	Human		name
598127571	CV3882747	indel	NM_001430.5(EPAS1):c.1250-22_1250-20delinsCCT	Erythrocytosis, familial, 4 [RCV005234278]	benign	2	46377872	46377874	Human		name
401753871	CV2716915	single nucleotide variant	NM_001430.5(EPAS1):c.313G>C (p.Asp105His)	Inborn genetic diseases [RCV003296330]	uncertain significance	2	46356246	46356246	Human	1	name
407490572	CV3435267	single nucleotide variant	NM_001430.5(EPAS1):c.984C>G (p.Asn328Lys)	Inborn genetic diseases [RCV004620244]	uncertain significance	2	46375787	46375787	Human	1	name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message