Usp4 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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923 records found for search term Usp4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
401718321	CV2700318	single nucleotide variant	NM_003363.4(USP4):c.5C>T (p.Ala2Val)	not specified [RCV004310978]	uncertain significance	3	49340020	49340020	Human		name
155988545	CV2355110	single nucleotide variant	NM_003363.4(USP4):c.22C>T (p.Arg8Cys)	not specified [RCV004198501]	uncertain significance	3	49340003	49340003	Human		name
156074317	CV2248165	single nucleotide variant	NM_003363.4(USP4):c.44C>G (p.Thr15Ser)	not specified [RCV004117561]	uncertain significance	3	49339981	49339981	Human		name
329385222	CV2451100	single nucleotide variant	NM_003363.4(USP4):c.70A>G (p.Met24Val)	not specified [RCV004270040]	uncertain significance	3	49339955	49339955	Human		name
405800973	CV3338227	single nucleotide variant	NM_003363.4(USP4):c.69A>C (p.Leu23Phe)	not specified [RCV004477426]	uncertain significance	3	49339956	49339956	Human		name
407464622	CV3487623	single nucleotide variant	NM_003363.4(USP4):c.44C>T (p.Thr15Ile)	not specified [RCV004688553]	uncertain significance	3	49339981	49339981	Human		name
15145489	CV748369	single nucleotide variant	NM_003363.4(USP4):c.351C>T (p.Ile117=)	not provided [RCV000922551]	likely benign	3	49327695	49327695	Human		name
401750128	CV2695948	single nucleotide variant	NM_003363.4(USP4):c.212A>C (p.Asn71Thr)	not specified [RCV004308217]	uncertain significance	3	49335486	49335486	Human		name
401922254	CV2827416	single nucleotide variant	NM_003363.4(USP4):c.1074C>A (p.Leu358=)	not provided [RCV003433591]	likely benign	3	49305769	49305769	Human		name
405800713	CV3338216	single nucleotide variant	NM_003363.4(USP4):c.173A>G (p.Asn58Ser)	not specified [RCV004477415]	uncertain significance	3	49335525	49335525	Human		name
597798919	CV3623050	single nucleotide variant	NM_003363.4(USP4):c.168G>A (p.Met56Ile)	not specified [RCV004879421]	uncertain significance	3	49335530	49335530	Human		name
597798933	CV3623058	single nucleotide variant	NM_003363.4(USP4):c.218G>A (p.Gly73Glu)	not specified [RCV004879428]	uncertain significance	3	49335480	49335480	Human		name
15180663	CV720527	single nucleotide variant	NM_003363.4(USP4):c.1773A>T (p.Pro591=)	not provided [RCV000885581]	likely benign	3	49294517	49294517	Human		name
15149117	CV734151	single nucleotide variant	NM_003363.4(USP4):c.2523C>T (p.Val841=)	not provided [RCV000900866]	likely benign	3	49284004	49284004	Human		name
15197551	CV748368	single nucleotide variant	NM_003363.4(USP4):c.2565C>T (p.Val855=)	not provided [RCV000912004]	likely benign	3	49280823	49280823	Human		name
156322461	CV2205067	single nucleotide variant	NM_003363.4(USP4):c.400G>A (p.Glu134Lys)	not specified [RCV004077675]	uncertain significance	3	49325806	49325806	Human		name
156381500	CV2214988	single nucleotide variant	NM_003363.4(USP4):c.530C>T (p.Ala177Val)	not specified [RCV004084765]	uncertain significance	3	49324997	49324997	Human		name
156337262	CV2228665	single nucleotide variant	NM_003363.4(USP4):c.863A>G (p.Asn288Ser)	not specified [RCV004092886]	uncertain significance	3	49310711	49310711	Human		name
155914741	CV2242814	single nucleotide variant	NM_003363.4(USP4):c.834G>C (p.Arg278Ser)	not specified [RCV004107409]	uncertain significance	3	49311516	49311516	Human		name
156364007	CV2341769	single nucleotide variant	NM_003363.4(USP4):c.299C>T (p.Ala100Val)	not specified [RCV004184728]	uncertain significance	3	49327747	49327747	Human		name
329393110	CV2469320	single nucleotide variant	NM_003363.4(USP4):c.755A>G (p.Tyr252Cys)	not specified [RCV004280653]	uncertain significance	3	49311595	49311595	Human		name
401721565	CV2710032	single nucleotide variant	NM_003363.4(USP4):c.469A>T (p.Ser157Cys)	not specified [RCV004315093]	uncertain significance	3	49325737	49325737	Human		name
405800730	CV3338225	single nucleotide variant	NM_003363.4(USP4):c.313C>A (p.Leu105Ile)	not specified [RCV004477424]	uncertain significance	3	49327733	49327733	Human		name
405800732	CV3338226	single nucleotide variant	NM_003363.4(USP4):c.464A>G (p.His155Arg)	not specified [RCV004477425]	uncertain significance	3	49325742	49325742	Human		name
407528832	CV3487620	single nucleotide variant	NM_003363.4(USP4):c.395A>T (p.Lys132Ile)	not specified [RCV004680590]	uncertain significance	3	49325811	49325811	Human		name
407528842	CV3487626	single nucleotide variant	NM_003363.4(USP4):c.349A>G (p.Ile117Val)	not specified [RCV004680595]	uncertain significance	3	49327697	49327697	Human		name
597798921	CV3623051	single nucleotide variant	NM_003363.4(USP4):c.496G>A (p.Glu166Lys)	not specified [RCV004879422]	uncertain significance	3	49325031	49325031	Human		name
597798925	CV3623053	single nucleotide variant	NM_003363.4(USP4):c.508C>T (p.Arg170Trp)	not specified [RCV004879424]	uncertain significance	3	49325019	49325019	Human		name
597798939	CV3623063	single nucleotide variant	NM_003363.4(USP4):c.613G>A (p.Ala205Thr)	not specified [RCV004879431]	uncertain significance	3	49324914	49324914	Human		name
597724090	CV3623065	single nucleotide variant	NM_003363.4(USP4):c.869A>G (p.Gln290Arg)	not specified [RCV004888139]	uncertain significance	3	49310705	49310705	Human		name
598204280	CV3932846	single nucleotide variant	NM_003363.4(USP4):c.439G>C (p.Asp147His)	not specified [RCV005290666]	uncertain significance	3	49325767	49325767	Human		name
156185271	CV2195551	single nucleotide variant	NM_003363.4(USP4):c.2073G>T (p.Glu691Asp)	not specified [RCV004082765]	uncertain significance	3	49286225	49286225	Human		name
156239271	CV2217227	single nucleotide variant	NM_003363.4(USP4):c.2524G>A (p.Val842Ile)	not specified [RCV004087679]	uncertain significance	3	49284003	49284003	Human		name
156296351	CV2233827	single nucleotide variant	NM_003363.4(USP4):c.1217A>G (p.His406Arg)	not specified [RCV004102046]	uncertain significance	3	49302454	49302454	Human		name
156112921	CV2261236	single nucleotide variant	NM_003363.4(USP4):c.2602A>G (p.Ile868Val)	not specified [RCV004128111]	uncertain significance	3	49280786	49280786	Human		name
156043807	CV2268475	single nucleotide variant	NM_003363.4(USP4):c.1517G>A (p.Arg506His)	not specified [RCV004130168]	uncertain significance	3	49298631	49298631	Human		name
156285196	CV2291964	single nucleotide variant	NM_003363.4(USP4):c.1231C>T (p.Arg411Trp)	not specified [RCV004158473]	uncertain significance	3	49302440	49302440	Human		name
156199885	CV2313027	single nucleotide variant	NM_003363.4(USP4):c.2775T>G (p.Asp925Glu)	not specified [RCV004161309]	uncertain significance	3	49278410	49278410	Human		name
156070021	CV2316869	single nucleotide variant	NM_003363.4(USP4):c.1064A>G (p.Tyr355Cys)	not specified [RCV004174396]	uncertain significance	3	49305779	49305779	Human		name
155978260	CV2321415	single nucleotide variant	NM_003363.4(USP4):c.1537G>A (p.Gly513Arg)	not specified [RCV004177403]	uncertain significance	3	49298611	49298611	Human		name
156284731	CV2349042	single nucleotide variant	NM_003363.4(USP4):c.2704G>A (p.Val902Met)	not specified [RCV004205483]	uncertain significance	3	49278843	49278843	Human		name
156335789	CV2360554	single nucleotide variant	NM_003363.4(USP4):c.2359A>G (p.Thr787Ala)	not specified [RCV004211314]	uncertain significance	3	49284497	49284497	Human		name
155934957	CV2372581	single nucleotide variant	NM_003363.4(USP4):c.1558G>A (p.Glu520Lys)	not specified [RCV004219373]	uncertain significance	3	49298590	49298590	Human		name
329375973	CV2431685	single nucleotide variant	NM_003363.4(USP4):c.1877G>C (p.Arg626Pro)	not specified [RCV004248853]	uncertain significance	3	49294413	49294413	Human		name
329377479	CV2435933	single nucleotide variant	NM_003363.4(USP4):c.2291G>C (p.Ser764Thr)	not specified [RCV004255158]	uncertain significance	3	49284565	49284565	Human		name
329388470	CV2437443	single nucleotide variant	NM_003363.4(USP4):c.2240G>A (p.Arg747Gln)	not specified [RCV004256308]	uncertain significance	3	49284880	49284880	Human		name
329373990	CV2452755	single nucleotide variant	NM_003363.4(USP4):c.1147G>A (p.Ala383Thr)	not specified [RCV004275297]	uncertain significance	3	49302524	49302524	Human		name
401755189	CV2682407	single nucleotide variant	NM_003363.4(USP4):c.1724C>T (p.Ser575Leu)	not specified [RCV004290436]	uncertain significance	3	49294566	49294566	Human		name
401777947	CV2704474	single nucleotide variant	NM_003363.4(USP4):c.2627C>A (p.Ala876Asp)	not specified [RCV004313219]	uncertain significance	3	49280761	49280761	Human		name
401765847	CV2717891	single nucleotide variant	NM_003363.4(USP4):c.2479C>T (p.Arg827Cys)	not specified [RCV004321858]	uncertain significance	3	49284048	49284048	Human		name
401760128	CV2718724	single nucleotide variant	NM_003363.4(USP4):c.1052T>G (p.Ile351Ser)	not specified [RCV004328480]	uncertain significance	3	49305791	49305791	Human		name
401893957	CV2770156	single nucleotide variant	NM_003363.4(USP4):c.2759A>G (p.Tyr920Cys)	not specified [RCV004356054]	uncertain significance	3	49278426	49278426	Human		name
405800711	CV3338215	single nucleotide variant	NM_003363.4(USP4):c.1549G>A (p.Asp517Asn)	not specified [RCV004477414]	uncertain significance	3	49298599	49298599	Human		name
405800715	CV3338217	single nucleotide variant	NM_003363.4(USP4):c.1984G>A (p.Glu662Lys)	not specified [RCV004477416]	uncertain significance	3	49286314	49286314	Human		name
405800716	CV3338218	single nucleotide variant	NM_003363.4(USP4):c.1999C>G (p.Gln667Glu)	not specified [RCV004477417]	uncertain significance	3	49286299	49286299	Human		name
405800718	CV3338219	single nucleotide variant	NM_003363.4(USP4):c.2069G>A (p.Ser690Asn)	not specified [RCV004477418]	uncertain significance	3	49286229	49286229	Human		name
405800720	CV3338220	single nucleotide variant	NM_003363.4(USP4):c.2171C>G (p.Ala724Gly)	not specified [RCV004477419]	uncertain significance	3	49286127	49286127	Human		name
405800722	CV3338221	single nucleotide variant	NM_003363.4(USP4):c.2176G>A (p.Asp726Asn)	not specified [RCV004477420]	uncertain significance	3	49286122	49286122	Human		name
405800724	CV3338222	single nucleotide variant	NM_003363.4(USP4):c.2381A>G (p.His794Arg)	not specified [RCV004477421]	uncertain significance	3	49284475	49284475	Human		name
405800726	CV3338223	single nucleotide variant	NM_003363.4(USP4):c.2470C>T (p.His824Tyr)	not specified [RCV004477422]	uncertain significance	3	49284057	49284057	Human		name
407528834	CV3487621	single nucleotide variant	NM_003363.4(USP4):c.1928C>T (p.Pro643Leu)	not specified [RCV004680591]	uncertain significance	3	49292554	49292554	Human		name
407528836	CV3487622	single nucleotide variant	NM_003363.4(USP4):c.2473C>T (p.Leu825Phe)	not specified [RCV004680592]	uncertain significance	3	49284054	49284054	Human		name
407528838	CV3487624	single nucleotide variant	NM_003363.4(USP4):c.2747A>C (p.Tyr916Ser)	not specified [RCV004680593]	uncertain significance	3	49278438	49278438	Human		name
407528840	CV3487625	single nucleotide variant	NM_003363.4(USP4):c.2836A>G (p.Ser946Gly)	not specified [RCV004680594]	likely benign	3	49278349	49278349	Human		name
407528844	CV3487627	single nucleotide variant	NM_003363.4(USP4):c.2038A>G (p.Ser680Gly)	not specified [RCV004680596]	uncertain significance	3	49286260	49286260	Human		name
597724033	CV3623048	single nucleotide variant	NM_003363.4(USP4):c.1998T>A (p.His666Gln)	not specified [RCV004888134]	uncertain significance	3	49286300	49286300	Human		name
597724043	CV3623049	single nucleotide variant	NM_003363.4(USP4):c.2254G>C (p.Asp752His)	not specified [RCV004888135]	uncertain significance	3	49284866	49284866	Human		name
597798923	CV3623052	single nucleotide variant	NM_003363.4(USP4):c.1529C>T (p.Pro510Leu)	not specified [RCV004879423]	uncertain significance	3	49298619	49298619	Human		name
597798927	CV3623054	single nucleotide variant	NM_003363.4(USP4):c.1111G>A (p.Ala371Thr)	not specified [RCV004879425]	uncertain significance	3	49305732	49305732	Human		name
597798929	CV3623055	single nucleotide variant	NM_003363.4(USP4):c.2879T>C (p.Met960Thr)	not specified [RCV004879426]	uncertain significance	3	49278306	49278306	Human		name
597724053	CV3623057	single nucleotide variant	NM_003363.4(USP4):c.1358G>T (p.Gly453Val)	not specified [RCV004888136]	uncertain significance	3	49300621	49300621	Human		name
597724067	CV3623059	single nucleotide variant	NM_003363.4(USP4):c.2850G>C (p.Gln950His)	not specified [RCV004888137]	uncertain significance	3	49278335	49278335	Human		name
597724077	CV3623060	single nucleotide variant	NM_003363.4(USP4):c.2321C>G (p.Thr774Ser)	not specified [RCV004888138]	uncertain significance	3	49284535	49284535	Human		name
597798935	CV3623061	single nucleotide variant	NM_003363.4(USP4):c.2480G>A (p.Arg827His)	not specified [RCV004879429]	uncertain significance	3	49284047	49284047	Human		name
597798937	CV3623062	single nucleotide variant	NM_003363.4(USP4):c.1141C>A (p.Arg381Ser)	not specified [RCV004879430]	uncertain significance	3	49302530	49302530	Human		name
597798941	CV3623064	single nucleotide variant	NM_003363.4(USP4):c.2269G>A (p.Glu757Lys)	not specified [RCV004879432]	uncertain significance	3	49284851	49284851	Human		name
598275307	CV3932844	single nucleotide variant	NM_003363.4(USP4):c.1706G>A (p.Ser569Asn)	not specified [RCV005304441]	uncertain significance	3	49294584	49294584	Human		name
598204274	CV3932845	single nucleotide variant	NM_003363.4(USP4):c.2131C>T (p.Leu711Phe)	not specified [RCV005290665]	uncertain significance	3	49286167	49286167	Human		name
598204286	CV3932847	single nucleotide variant	NM_003363.4(USP4):c.1676G>A (p.Arg559Gln)	not specified [RCV005290667]	uncertain significance	3	49297885	49297885	Human		name
598204292	CV3932848	single nucleotide variant	NM_003363.4(USP4):c.2873G>A (p.Cys958Tyr)	not specified [RCV005290668]	uncertain significance	3	49278312	49278312	Human		name
598275308	CV3932849	single nucleotide variant	NM_003363.4(USP4):c.2768G>A (p.Arg923Gln)	not specified [RCV005304442]	uncertain significance	3	49278417	49278417	Human		name
15186149	CV698169	single nucleotide variant	NM_003363.4(USP4):c.2536A>G (p.Ile846Val)	not provided [RCV000953197]	benign	3	49283991	49283991	Human		name
15158997	CV720526	single nucleotide variant	NM_003363.4(USP4):c.1859A>G (p.Tyr620Cys)	not provided [RCV000881114]	benign	3	49294431	49294431	Human		name
15121000	CV734152	single nucleotide variant	NM_003363.4(USP4):c.1889A>G (p.Tyr630Cys)	not provided [RCV000895986]	likely benign	3	49292593	49292593	Human		name
408367631	CV3511652	duplication	NM_032236.8(USP48):c.135-9dup	USP48-related condition [RCV004759084]	likely benign	1	21757791	21757792	Human		name , trait
408367727	CV3514078	duplication	NM_032236.8(USP48):c.2385-7dup	USP48-related condition [RCV004759181]	likely benign	1	21704398	21704399	Human		name , trait
15163958	CV777090	single nucleotide variant	NM_032236.8(USP48):c.2516-10T>C	not provided [RCV000948219]	benign	1	21703628	21703628	Human		name
8626918	CV82062	single nucleotide variant	NM_017944.3(USP47):c.2887+16G>A	Malignant melanoma [RCV000062141]	not provided	11	11943128	11943128	Human		name
152980800	CV1676133	single nucleotide variant	NM_001346022.3(USP45):c.378-9C>T	Leber congenital amaurosis 19 [RCV002245201]	benign	6	99503874	99503874	Human	1	name
243061975	CV2407164	single nucleotide variant	NM_001346022.3(USP45):c.377+5G>A	Leber congenital amaurosis 19 [RCV003139247]	uncertain significance	6	99507423	99507423	Human	1	name
598210569	CV3896913	single nucleotide variant	NM_001346022.3(USP45):c.-10-2A>G	Leber congenital amaurosis [RCV005358554]	uncertain significance	6	99510232	99510232	Human	1	name
15168651	CV777560	single nucleotide variant	NM_001346022.3(USP45):c.845+2T>C	not provided [RCV000949301]	benign	6	99482751	99482751	Human		name
401909418	CV2816453	single nucleotide variant	NM_001282659.2(USP47):c.3583+5T>A	not provided [RCV003397930]	likely benign	11	11950487	11950487	Human		name
596939666	CV3407998	single nucleotide variant	NM_001346022.3(USP45):c.2073+1G>T	Leber congenital amaurosis [RCV005358115]\|Retinal dystrophy [RCV004814458]	uncertain significance	6	99443564	99443564	Human	3	name
8652606	CV129181	single nucleotide variant	NM_001282659.1(USP47):c.1387-1922A>G	Lung cancer [RCV000109668]	uncertain significance	11	11927512	11927512	Human		name
598210146	CV3895037	deletion	NM_153210.5(USP43):c.2336-957_2336-956del	Congenital heart disease [RCV005358492]	uncertain significance	17	9726997	9726998	Human	1	name
152980799	CV1676132	microsatellite	NM_001346022.3(USP45):c.1309-26_1309-22del	Leber congenital amaurosis 19 [RCV002245200]	benign	6	99446485	99446489	Human		name
405285058	CV3202409	single nucleotide variant	NM_001346022.3(USP45):c.40G>A (p.Ala14Thr)	USP45-related disorder [RCV003909678]	likely benign	6	99510181	99510181	Human		name , trait , alternate_id
405275381	CV3204748	single nucleotide variant	NM_032147.5(USP44):c.6A>G (p.Leu2=)	USP44-related disorder [RCV003952131]	likely benign	12	95534251	95534251	Human		name , trait , alternate_id
405271553	CV3209482	single nucleotide variant	NM_032147.5(USP44):c.1489T>C (p.Leu497=)	USP44-related disorder [RCV003949797]	likely benign	12	95528942	95528942	Human		name , trait , alternate_id
405271721	CV3209502	single nucleotide variant	NM_001346022.3(USP45):c.1950G>T (p.Lys650Asn)	USP45-related disorder [RCV003949815]	likely benign	6	99445822	99445822	Human		name , trait , alternate_id
405278379	CV3216471	single nucleotide variant	NM_032147.5(USP44):c.1443A>T (p.Ala481=)	USP44-related disorder [RCV003954403]	likely benign	12	95528988	95528988	Human		name , trait , alternate_id
405266027	CV3220998	single nucleotide variant	NM_032147.5(USP44):c.492A>G (p.Thr164=)	USP44-related disorder [RCV003969140]\|not provided [RCV004704944]	likely benign	12	95533765	95533765	Human		name , trait , alternate_id
405291839	CV3221150	single nucleotide variant	NM_032147.5(USP44):c.106G>A (p.Glu36Lys)	USP44-related disorder [RCV003964249]	benign	12	95534151	95534151	Human		name , trait , alternate_id
15190650	CV725318	single nucleotide variant	NM_032147.5(USP44):c.1087G>A (p.Gly363Ser)	USP44-related disorder [RCV003968078]\|not provided [RCV000888159]	benign	12	95533170	95533170	Human		name , trait , alternate_id
329367366	CV2427377	single nucleotide variant	NM_032147.5(USP44):c.17C>T (p.Thr6Met)	not specified [RCV004248233]	uncertain significance	12	95534240	95534240	Human		name
401935445	CV2812436	single nucleotide variant	NM_032236.8(USP48):c.210T>C (p.Asn70=)	not provided [RCV003412874]	likely benign	1	21757708	21757708	Human		name
401925581	CV2828294	single nucleotide variant	NM_032172.3(USP42):c.153A>G (p.Thr51=)	not provided [RCV003436633]	likely benign	7	6111286	6111286	Human		name
408367716	CV3512486	single nucleotide variant	NM_032236.8(USP48):c.3022A>G (p.Ile1008Val)	USP48-related condition [RCV004759139]	uncertain significance	1	21687227	21687227	Human		name , trait
408367742	CV3513486	single nucleotide variant	NM_032236.8(USP48):c.611A>G (p.Asp204Gly)	USP48-related condition [RCV004759165]	uncertain significance	1	21752581	21752581	Human		name , trait
597724130	CV3623085	single nucleotide variant	NM_032172.3(USP42):c.22T>G (p.Ser8Ala)	not specified [RCV004888143]	uncertain significance	7	6111155	6111155	Human		name
597799089	CV3623140	single nucleotide variant	NM_153210.5(USP43):c.23C>G (p.Ala8Gly)	not specified [RCV004879486]	uncertain significance	17	9645655	9645655	Human		name
15165797	CV698547	single nucleotide variant	NM_022832.4(USP46):c.165C>T (p.Phe55=)	not provided [RCV000948679]	benign	4	52628116	52628116	Human		name
15108380	CV713795	single nucleotide variant	NM_032147.5(USP44):c.105C>G (p.Thr35=)	not provided [RCV000960477]	benign	12	95534152	95534152	Human		name
156340223	CV2229441	single nucleotide variant	NM_153210.5(USP43):c.38C>A (p.Pro13Gln)	not specified [RCV004101213]	uncertain significance	17	9645670	9645670	Human		name
156213201	CV2257354	single nucleotide variant	NM_153210.5(USP43):c.88C>T (p.Arg30Cys)	not specified [RCV004125446]	uncertain significance	17	9645720	9645720	Human		name
155928973	CV2363403	single nucleotide variant	NM_153210.5(USP43):c.88C>G (p.Arg30Gly)	not specified [RCV004215987]	uncertain significance	17	9645720	9645720	Human		name
156390130	CV2373100	single nucleotide variant	NM_032172.3(USP42):c.65G>A (p.Ser22Asn)	not specified [RCV004217794]	uncertain significance	7	6111198	6111198	Human		name
405800868	CV3338321	single nucleotide variant	NM_153210.5(USP43):c.58C>G (p.Arg20Gly)	not specified [RCV004477520]	uncertain significance	17	9645690	9645690	Human		name
405800978	CV3338323	single nucleotide variant	NM_153210.5(USP43):c.62G>C (p.Arg21Pro)	not specified [RCV004477522]	uncertain significance	17	9645694	9645694	Human		name
407528932	CV3487671	single nucleotide variant	NM_153210.5(USP43):c.52C>T (p.Pro18Ser)	not specified [RCV004680639]	uncertain significance	17	9645684	9645684	Human		name
407528934	CV3487672	single nucleotide variant	NM_153210.5(USP43):c.38C>T (p.Pro13Leu)	not specified [RCV004680640]	uncertain significance	17	9645670	9645670	Human		name
597798986	CV3623090	single nucleotide variant	NM_032172.3(USP42):c.74C>G (p.Ala25Gly)	not specified [RCV004879453]	uncertain significance	7	6111207	6111207	Human		name
597799005	CV3623100	single nucleotide variant	NM_032172.3(USP42):c.70G>C (p.Glu24Gln)	not specified [RCV004879462]	uncertain significance	7	6111203	6111203	Human		name
597799242	CV3623107	single nucleotide variant	NM_032172.3(USP42):c.29C>A (p.Ser10Tyr)	not specified [RCV004879466]	uncertain significance	7	6111162	6111162	Human		name
597799217	CV3623128	single nucleotide variant	NM_153210.5(USP43):c.56G>A (p.Arg19His)	not specified [RCV004879478]	uncertain significance	17	9645688	9645688	Human		name
597696710	CV3623143	single nucleotide variant	NM_153210.5(USP43):c.56G>T (p.Arg19Leu)	not specified [RCV004885186]	uncertain significance	17	9645688	9645688	Human		name
597799059	CV3623177	single nucleotide variant	NM_022832.4(USP46):c.35T>C (p.Met12Thr)	not specified [RCV004879512]	uncertain significance	4	52659116	52659116	Human		name
15196462	CV698546	single nucleotide variant	NM_022832.4(USP46):c.963C>T (p.His321=)	not provided [RCV000956197]	benign	4	52598664	52598664	Human		name
15130920	CV713794	single nucleotide variant	NM_032147.5(USP44):c.708G>A (p.Thr236=)	not provided [RCV000964516]	benign	12	95533549	95533549	Human		name
8689441	CV139351	single nucleotide variant	NM_032147.5(USP44):c.213G>T (p.Glu71Asp)	not provided [RCV000122609]	not provided	12	95534044	95534044	Human		name
156221071	CV2222451	single nucleotide variant	NM_153210.5(USP43):c.178G>A (p.Gly60Ser)	not specified [RCV004099305]	uncertain significance	17	9645810	9645810	Human		name
156185583	CV2294963	single nucleotide variant	NM_032147.5(USP44):c.288G>C (p.Lys96Asn)	not specified [RCV004156110]	uncertain significance	12	95533969	95533969	Human		name
156078717	CV2300847	single nucleotide variant	NM_022832.4(USP46):c.178C>T (p.Arg60Trp)	not specified [RCV004158053]	uncertain significance	4	52628103	52628103	Human		name
156068588	CV2320449	single nucleotide variant	NM_153210.5(USP43):c.112C>G (p.Arg38Gly)	not specified [RCV004172091]	uncertain significance	17	9645744	9645744	Human		name
156063991	CV2352882	single nucleotide variant	NM_022832.4(USP46):c.233C>T (p.Thr78Met)	not specified [RCV004200929]	uncertain significance	4	52628048	52628048	Human		name
156401844	CV2371012	single nucleotide variant	NM_022832.4(USP46):c.242C>T (p.Ala81Val)	not specified [RCV004220779]	uncertain significance	4	52628039	52628039	Human		name
156347433	CV2375452	single nucleotide variant	NM_153210.5(USP43):c.101C>A (p.Ala34Glu)	not specified [RCV004225966]	uncertain significance	17	9645733	9645733	Human		name
156226357	CV2401135	single nucleotide variant	NM_032147.5(USP44):c.251A>G (p.Asp84Gly)	not specified [RCV004245700]	uncertain significance	12	95534006	95534006	Human		name
329369410	CV2450634	single nucleotide variant	NM_153210.5(USP43):c.124G>A (p.Gly42Arg)	not specified [RCV004265525]	uncertain significance	17	9645756	9645756	Human		name
401742517	CV2673803	single nucleotide variant	NM_032147.5(USP44):c.149G>A (p.Gly50Glu)	not specified [RCV004293187]	uncertain significance	12	95534108	95534108	Human		name
401861632	CV2756385	single nucleotide variant	NM_153210.5(USP43):c.236G>A (p.Arg79His)	not specified [RCV004342927]	uncertain significance	17	9645868	9645868	Human		name
401935444	CV2812435	single nucleotide variant	NM_032236.8(USP48):c.1254T>C (p.Tyr418=)	not provided [RCV003412873]	likely benign	1	21729750	21729750	Human		name
401935689	CV2814943	single nucleotide variant	NM_153210.5(USP43):c.2106T>G (p.Ala702=)	not provided [RCV003413149]	likely benign	17	9710050	9710050	Human		name
401942741	CV2839847	single nucleotide variant	NM_032236.8(USP48):c.1962T>C (p.His654=)	not provided [RCV003456634]	benign	1	21715390	21715390	Human		name
405800736	CV3338252	single nucleotide variant	NM_001365479.2(USP40):c.5T>C (p.Phe2Ser)	not specified [RCV004477451]	uncertain significance	2	233565550	233565550	Human		name
405800781	CV3338276	single nucleotide variant	NM_032172.3(USP42):c.259G>A (p.Ala87Thr)	not specified [RCV004477475]	uncertain significance	7	6115340	6115340	Human		name
405800789	CV3338280	single nucleotide variant	NM_032172.3(USP42):c.2763C>T (p.Gly921=)	not specified [RCV004477479]	likely benign	7	6154317	6154317	Human		name
405800854	CV3338313	single nucleotide variant	NM_153210.5(USP43):c.284C>T (p.Ala95Val)	not specified [RCV004477512]	uncertain significance	17	9645916	9645916	Human		name
405800878	CV3338326	single nucleotide variant	NM_032147.5(USP44):c.134C>T (p.Ser45Phe)	not specified [RCV004477525]	uncertain significance	12	95534123	95534123	Human		name
405800883	CV3338329	single nucleotide variant	NM_032147.5(USP44):c.210G>T (p.Leu70Phe)	not specified [RCV004477528]	uncertain significance	12	95534047	95534047	Human		name
407529074	CV3487690	single nucleotide variant	NM_032236.8(USP48):c.208A>G (p.Asn70Asp)	not specified [RCV004680655]	uncertain significance	1	21757710	21757710	Human		name
407464643	CV3487691	single nucleotide variant	NM_032236.8(USP48):c.223A>G (p.Ile75Val)	not specified [RCV004688558]	uncertain significance	1	21757695	21757695	Human		name
597799227	CV3623122	single nucleotide variant	NM_153210.5(USP43):c.248C>A (p.Pro83His)	not specified [RCV004879473]	uncertain significance	17	9645880	9645880	Human		name
597799140	CV3623139	single nucleotide variant	NM_153210.5(USP43):c.156C>A (p.His52Gln)	not specified [RCV004879485]	uncertain significance	17	9645788	9645788	Human		name
597696726	CV3623153	single nucleotide variant	NM_032147.5(USP44):c.116G>T (p.Trp39Leu)	not specified [RCV004885188]	uncertain significance	12	95534141	95534141	Human		name
598204375	CV3932885	single nucleotide variant	NM_032172.3(USP42):c.223T>C (p.Ser75Pro)	not specified [RCV005290681]	uncertain significance	7	6111356	6111356	Human		name
598238769	CV3932898	single nucleotide variant	NM_032172.3(USP42):c.124T>C (p.Ser42Pro)	not specified [RCV005296471]	uncertain significance	7	6111257	6111257	Human		name
598238792	CV3932912	single nucleotide variant	NM_032147.5(USP44):c.142G>A (p.Ala48Thr)	not specified [RCV005296475]	uncertain significance	12	95534115	95534115	Human		name
15199021	CV700166	single nucleotide variant	NM_032172.3(USP42):c.1884T>A (p.Ile628=)	not provided [RCV000956923]	benign	7	6150080	6150080	Human		name
15201190	CV704531	single nucleotide variant	NM_153210.5(USP43):c.1350A>T (p.Val450=)	not provided [RCV000957551]	benign	17	9686906	9686906	Human		name
15198281	CV727625	single nucleotide variant	NM_153210.5(USP43):c.2487C>T (p.Ser829=)	not provided [RCV000890311]	benign	17	9728105	9728105	Human		name
156320366	CV2197287	single nucleotide variant	NM_032172.3(USP42):c.572G>A (p.Arg191His)	not specified [RCV004079059]	uncertain significance	7	6139110	6139110	Human		name
156045273	CV2215998	single nucleotide variant	NM_032236.8(USP48):c.799C>T (p.Arg267Cys)	not specified [RCV004097051]	uncertain significance	1	21748247	21748247	Human		name
156385832	CV2228045	single nucleotide variant	NM_153210.5(USP43):c.814A>G (p.Ile272Val)	not specified [RCV004096284]	uncertain significance	17	9674964	9674964	Human		name
156271773	CV2237270	single nucleotide variant	NM_032147.5(USP44):c.778T>C (p.Ser260Pro)	not specified [RCV004114996]	uncertain significance	12	95533479	95533479	Human		name
155992651	CV2255859	single nucleotide variant	NM_153210.5(USP43):c.541A>G (p.Asn181Asp)	not specified [RCV004122017]	uncertain significance	17	9656439	9656439	Human		name
156038050	CV2259887	single nucleotide variant	NM_032147.5(USP44):c.775G>T (p.Asp259Tyr)	not specified [RCV004118924]	uncertain significance	12	95533482	95533482	Human		name
156339821	CV2268014	single nucleotide variant	NM_022832.4(USP46):c.907G>A (p.Val303Ile)	not specified [RCV004136570]	uncertain significance	4	52601870	52601870	Human		name
156164868	CV2270299	single nucleotide variant	NM_032236.8(USP48):c.743A>G (p.Gln248Arg)	not specified [RCV004135511]	uncertain significance	1	21751538	21751538	Human		name
156167301	CV2279788	single nucleotide variant	NM_032147.5(USP44):c.845G>T (p.Cys282Phe)	not specified [RCV004144398]	uncertain significance	12	95533412	95533412	Human		name
156184528	CV2294881	single nucleotide variant	NM_153210.5(USP43):c.438G>T (p.Gln146His)	not specified [RCV004156037]	uncertain significance	17	9646070	9646070	Human		name
156046902	CV2304306	single nucleotide variant	NM_032172.3(USP42):c.534T>G (p.Phe178Leu)	not specified [RCV004164427]	uncertain significance	7	6135932	6135932	Human		name
156274063	CV2320230	single nucleotide variant	NM_153210.5(USP43):c.932A>G (p.Lys311Arg)	not specified [RCV004169849]	likely benign	17	9676844	9676844	Human		name
156084021	CV2330797	single nucleotide variant	NM_032172.3(USP42):c.326T>C (p.Val109Ala)	not specified [RCV004185857]	uncertain significance	7	6115407	6115407	Human		name
156294423	CV2336771	single nucleotide variant	NM_153210.5(USP43):c.734A>T (p.Gln245Leu)	not specified [RCV004197007]	uncertain significance	17	9666745	9666745	Human		name
155938734	CV2365081	single nucleotide variant	NM_032147.5(USP44):c.581G>A (p.Arg194Gln)	not specified [RCV004224237]	likely benign	12	95533676	95533676	Human		name
156211976	CV2378357	single nucleotide variant	NM_032147.5(USP44):c.737T>C (p.Leu246Pro)	not specified [RCV004226381]	uncertain significance	12	95533520	95533520	Human		name
156046438	CV2397324	single nucleotide variant	NM_032147.5(USP44):c.361C>T (p.Arg121Trp)	not specified [RCV004238850]	uncertain significance	12	95533896	95533896	Human		name
329388154	CV2437137	single nucleotide variant	NM_001346022.3(USP45):c.20C>T (p.Thr7Ile)	not specified [RCV004262944]	uncertain significance	6	99510201	99510201	Human		name
329353730	CV2439609	single nucleotide variant	NM_032172.3(USP42):c.529A>G (p.Met177Val)	not specified [RCV004255627]	uncertain significance	7	6135927	6135927	Human		name
329374296	CV2443825	single nucleotide variant	NM_032172.3(USP42):c.299G>A (p.Cys100Tyr)	not specified [RCV004258166]	uncertain significance	7	6115380	6115380	Human		name
329366339	CV2448482	single nucleotide variant	NM_032236.8(USP48):c.671A>G (p.Asn224Ser)	not specified [RCV004259172]	uncertain significance	1	21751610	21751610	Human		name
329372001	CV2454943	single nucleotide variant	NM_022832.4(USP46):c.798A>C (p.Arg266Ser)	not specified [RCV004272223]	uncertain significance	4	52601979	52601979	Human		name
329396729	CV2455742	single nucleotide variant	NM_032147.5(USP44):c.553G>A (p.Val185Ile)	not specified [RCV004279037]	uncertain significance	12	95533704	95533704	Human		name
329380922	CV2464395	single nucleotide variant	NM_022832.4(USP46):c.797G>A (p.Arg266Lys)	not specified [RCV004276330]	uncertain significance	4	52601980	52601980	Human		name
329354914	CV2473290	single nucleotide variant	NM_032236.8(USP48):c.982G>A (p.Glu328Lys)	Hearing loss, autosomal dominant 85 [RCV003221333]	uncertain significance	1	21747076	21747076	Human	1	name
401748696	CV2692714	single nucleotide variant	NM_153210.5(USP43):c.410C>T (p.Ala137Val)	not specified [RCV004306266]	uncertain significance	17	9646042	9646042	Human		name
401745881	CV2693369	single nucleotide variant	NM_032147.5(USP44):c.362G>A (p.Arg121Gln)	not specified [RCV004295328]	uncertain significance	12	95533895	95533895	Human		name
401767316	CV2727007	single nucleotide variant	NM_153210.5(USP43):c.995G>T (p.Ser332Ile)	not specified [RCV004325389]	uncertain significance	17	9680256	9680256	Human		name
401876945	CV2764235	single nucleotide variant	NM_032147.5(USP44):c.707C>T (p.Thr236Met)	not specified [RCV004336773]	likely benign	12	95533550	95533550	Human		name
401861200	CV2769568	single nucleotide variant	NM_032147.5(USP44):c.320G>A (p.Ser107Asn)	not specified [RCV004351216]	uncertain significance	12	95533937	95533937	Human		name
401873420	CV2776580	single nucleotide variant	NM_001365479.2(USP40):c.11A>T (p.Asp4Val)	not specified [RCV004355673]	uncertain significance	2	233565544	233565544	Human		name
401930248	CV2819051	single nucleotide variant	NM_001365479.2(USP40):c.258C>T (p.Pro86=)	not provided [RCV003440239]	likely benign	2	233562745	233562745	Human		name
401925582	CV2828295	single nucleotide variant	NM_032172.3(USP42):c.3045C>T (p.Gly1015=)	not provided [RCV003436634]	likely benign	7	6154599	6154599	Human		name
405800826	CV3338299	single nucleotide variant	NM_032172.3(USP42):c.542A>G (p.Asn181Ser)	not specified [RCV004477498]	uncertain significance	7	6135940	6135940	Human		name
405800828	CV3338300	single nucleotide variant	NM_032172.3(USP42):c.566A>T (p.His189Leu)	not specified [RCV004477499]	uncertain significance	7	6139104	6139104	Human		name
405800867	CV3338320	single nucleotide variant	NM_153210.5(USP43):c.499T>C (p.Phe167Leu)	not specified [RCV004477519]	uncertain significance	17	9646131	9646131	Human		name
405800870	CV3338322	single nucleotide variant	NM_153210.5(USP43):c.607G>A (p.Gly203Ser)	not specified [RCV004477521]	uncertain significance	17	9656505	9656505	Human		name
405800874	CV3338324	single nucleotide variant	NM_153210.5(USP43):c.955G>A (p.Val319Ile)	not specified [RCV004477523]	likely benign	17	9676867	9676867	Human		name
405800885	CV3338330	single nucleotide variant	NM_032147.5(USP44):c.442A>T (p.Thr148Ser)	not specified [RCV004477529]	uncertain significance	12	95533815	95533815	Human		name
405800887	CV3338331	single nucleotide variant	NM_032147.5(USP44):c.527A>C (p.Gln176Pro)	not specified [RCV004477530]	uncertain significance	12	95533730	95533730	Human		name
405800889	CV3338332	single nucleotide variant	NM_032147.5(USP44):c.662A>G (p.Gln221Arg)	not specified [RCV004477531]	uncertain significance	12	95533595	95533595	Human		name
405801003	CV3338368	single nucleotide variant	NM_032236.8(USP48):c.673C>G (p.Gln225Glu)	not specified [RCV004477567]	uncertain significance	1	21751608	21751608	Human		name
407528939	CV3487676	single nucleotide variant	NM_032147.5(USP44):c.590T>C (p.Leu197Ser)	not specified [RCV004680642]	uncertain significance	12	95533667	95533667	Human		name
407528950	CV3487682	single nucleotide variant	NM_022832.4(USP46):c.473C>T (p.Ala158Val)	not specified [RCV004680647]	uncertain significance	4	52626106	52626106	Human		name
407528961	CV3487687	single nucleotide variant	NM_032236.8(USP48):c.358T>G (p.Cys120Gly)	not specified [RCV004680652]	uncertain significance	1	21756600	21756600	Human		name
407464647	CV3487692	single nucleotide variant	NM_032236.8(USP48):c.845A>G (p.Lys282Arg)	not specified [RCV004688559]	uncertain significance	1	21748201	21748201	Human		name
597696636	CV3623117	single nucleotide variant	NM_032172.3(USP42):c.571C>T (p.Arg191Cys)	not specified [RCV004885177]	uncertain significance	7	6139109	6139109	Human		name
597799045	CV3623141	single nucleotide variant	NM_153210.5(USP43):c.623C>T (p.Pro208Leu)	not specified [RCV004879487]	uncertain significance	17	9656521	9656521	Human		name
597799009	CV3623144	single nucleotide variant	NM_032147.5(USP44):c.650A>C (p.Gln217Pro)	not specified [RCV004879488]	uncertain significance	12	95533607	95533607	Human		name
597799014	CV3623146	single nucleotide variant	NM_032147.5(USP44):c.580C>T (p.Arg194Trp)	not specified [RCV004879490]	uncertain significance	12	95533677	95533677	Human		name
597799031	CV3623156	single nucleotide variant	NM_032147.5(USP44):c.844T>G (p.Cys282Gly)	not specified [RCV004879498]	uncertain significance	12	95533413	95533413	Human		name
597799057	CV3623175	single nucleotide variant	NM_022832.4(USP46):c.524C>T (p.Thr175Met)	not specified [RCV004879511]	uncertain significance	4	52626055	52626055	Human		name
597799061	CV3623178	single nucleotide variant	NM_022832.4(USP46):c.851A>G (p.Asn284Ser)	not specified [RCV004879513]	uncertain significance	4	52601926	52601926	Human		name
597799063	CV3623179	single nucleotide variant	NM_022832.4(USP46):c.461T>C (p.Met154Thr)	not specified [RCV004879514]	uncertain significance	4	52626118	52626118	Human		name
597799082	CV3623194	single nucleotide variant	NM_032236.8(USP48):c.904G>A (p.Asp302Asn)	not specified [RCV004879523]	uncertain significance	1	21748142	21748142	Human		name
598238703	CV3932873	single nucleotide variant	NM_032172.3(USP42):c.373G>A (p.Ala125Thr)	not specified [RCV005296459]	uncertain significance	7	6115454	6115454	Human		name
598204389	CV3932887	single nucleotide variant	NM_032172.3(USP42):c.909G>T (p.Arg303Ser)	not specified [RCV005290683]	uncertain significance	7	6144115	6144115	Human		name
598204486	CV3932909	single nucleotide variant	NM_032147.5(USP44):c.344G>A (p.Arg115His)	not specified [RCV005290699]	uncertain significance	12	95533913	95533913	Human		name
598238781	CV3932910	single nucleotide variant	NM_032147.5(USP44):c.503A>T (p.Gln168Leu)	not specified [RCV005296473]	uncertain significance	12	95533754	95533754	Human		name
598238826	CV3932921	single nucleotide variant	NM_022832.4(USP46):c.781A>C (p.Met261Leu)	not specified [RCV005296481]	uncertain significance	4	52601996	52601996	Human		name
8636417	CV91642	single nucleotide variant	NM_153210.4(USP43):c.515C>T (p.Ser172Phe)	Malignant melanoma [RCV000071740]	not provided	17	9656413	9656413	Human		name
9687098	CV171317	single nucleotide variant	NM_032236.8(USP48):c.1243A>G (p.Met415Val)	Prostate cancer [RCV000149317]	uncertain significance	1	21729761	21729761	Human	2	name
156167255	CV2200992	single nucleotide variant	NM_153210.5(USP43):c.2731A>G (p.Thr911Ala)	not specified [RCV004074758]	likely benign	17	9728349	9728349	Human		name
156090023	CV2206538	single nucleotide variant	NM_032236.8(USP48):c.1900T>A (p.Ser634Thr)	not specified [RCV004080889]	uncertain significance	1	21715452	21715452	Human		name
156096944	CV2206702	single nucleotide variant	NM_032172.3(USP42):c.2746G>A (p.Ala916Thr)	not specified [RCV004083394]	uncertain significance	7	6154300	6154300	Human		name
156401433	CV2207206	single nucleotide variant	NM_032236.8(USP48):c.1697G>A (p.Arg566His)	not specified [RCV004087938]	uncertain significance	1	21721716	21721716	Human		name
156262544	CV2216576	single nucleotide variant	NM_032147.5(USP44):c.2056A>C (p.Lys686Gln)	not specified [RCV004097342]	uncertain significance	12	95518237	95518237	Human		name
156256445	CV2219765	single nucleotide variant	NM_032172.3(USP42):c.1420A>C (p.Lys474Gln)	not specified [RCV004095458]	uncertain significance	7	6149616	6149616	Human		name
156239839	CV2221285	single nucleotide variant	NM_153210.5(USP43):c.2764G>A (p.Asp922Asn)	not specified [RCV004094715]	uncertain significance	17	9728382	9728382	Human		name
155929053	CV2224486	single nucleotide variant	NM_153210.5(USP43):c.2110A>G (p.Ile704Val)	not specified [RCV004098077]	uncertain significance	17	9710054	9710054	Human		name
156276335	CV2230489	single nucleotide variant	NM_032236.8(USP48):c.1544C>G (p.Ser515Cys)	not specified [RCV004097465]	uncertain significance	1	21724002	21724002	Human		name
156241911	CV2231391	single nucleotide variant	NM_032147.5(USP44):c.1798A>T (p.Met600Leu)	not specified [RCV004096476]	uncertain significance	12	95521138	95521138	Human		name
156285025	CV2232763	single nucleotide variant	NM_032147.5(USP44):c.1594G>A (p.Gly532Arg)	not specified [RCV004101406]	uncertain significance	12	95528837	95528837	Human		name
156167307	CV2237221	single nucleotide variant	NM_032172.3(USP42):c.1456G>A (p.Gly486Arg)	not specified [RCV004114955]	uncertain significance	7	6149652	6149652	Human		name
156074388	CV2247820	single nucleotide variant	NM_153210.5(USP43):c.1135C>T (p.Arg379Cys)	not specified [RCV004121284]	uncertain significance	17	9682852	9682852	Human		name
156217969	CV2253907	single nucleotide variant	NM_153210.5(USP43):c.1306A>G (p.Ile436Val)	not specified [RCV004127587]	uncertain significance	17	9686862	9686862	Human		name
156303100	CV2258780	single nucleotide variant	NM_032172.3(USP42):c.2837G>C (p.Arg946Thr)	not specified [RCV004118009]	uncertain significance	7	6154391	6154391	Human		name
155999168	CV2261061	single nucleotide variant	NM_032172.3(USP42):c.1018A>G (p.Ile340Val)	not specified [RCV004127711]	uncertain significance	7	6145543	6145543	Human		name
155946678	CV2262394	single nucleotide variant	NM_032172.3(USP42):c.2860C>T (p.Arg954Cys)	not specified [RCV004128842]	uncertain significance	7	6154414	6154414	Human		name
156367816	CV2266883	single nucleotide variant	NM_032172.3(USP42):c.1644C>A (p.Asn548Lys)	not specified [RCV004131549]	uncertain significance	7	6149840	6149840	Human		name
155944750	CV2269314	single nucleotide variant	NM_032172.3(USP42):c.2756G>T (p.Ser919Ile)	not specified [RCV004130718]	uncertain significance	7	6154310	6154310	Human		name
156335311	CV2272822	single nucleotide variant	NM_032236.8(USP48):c.2222T>C (p.Val741Ala)	not specified [RCV004135729]	uncertain significance	1	21706177	21706177	Human		name
155983270	CV2273061	single nucleotide variant	NM_032236.8(USP48):c.1511C>A (p.Thr504Asn)	not specified [RCV004137711]	uncertain significance	1	21724035	21724035	Human		name
155948771	CV2273542	single nucleotide variant	NM_153210.5(USP43):c.1789G>A (p.Glu597Lys)	not specified [RCV004134073]	uncertain significance	17	9701478	9701478	Human		name
155903508	CV2274891	single nucleotide variant	NM_032172.3(USP42):c.1667C>G (p.Ser556Cys)	not specified [RCV004133078]	uncertain significance	7	6149863	6149863	Human		name
155929209	CV2278010	single nucleotide variant	NM_032236.8(USP48):c.2642C>T (p.Pro881Leu)	not specified [RCV004141242]	uncertain significance	1	21701583	21701583	Human		name
156168657	CV2280060	single nucleotide variant	NM_032147.5(USP44):c.1076G>A (p.Gly359Glu)	not specified [RCV004146417]	uncertain significance	12	95533181	95533181	Human		name
156133445	CV2284580	single nucleotide variant	NM_032236.8(USP48):c.1692A>G (p.Ile564Met)	not specified [RCV004140747]	uncertain significance	1	21721721	21721721	Human		name
155994296	CV2286398	single nucleotide variant	NM_032236.8(USP48):c.1573T>C (p.Ser525Pro)	not specified [RCV004139921]	uncertain significance	1	21723973	21723973	Human		name
156251317	CV2286833	single nucleotide variant	NM_032172.3(USP42):c.2525G>A (p.Gly842Asp)	not specified [RCV004142635]	uncertain significance	7	6154079	6154079	Human		name
155998980	CV2287217	single nucleotide variant	NM_032147.5(USP44):c.1369C>T (p.Leu457Phe)	not specified [RCV004146866]	uncertain significance	12	95532888	95532888	Human		name
155901451	CV2294488	single nucleotide variant	NM_032172.3(USP42):c.2957G>A (p.Arg986Gln)	not specified [RCV004159981]	uncertain significance	7	6154511	6154511	Human		name
156099502	CV2294643	single nucleotide variant	NM_032172.3(USP42):c.2892G>C (p.Glu964Asp)	not specified [RCV004161896]	uncertain significance	7	6154446	6154446	Human		name
156070402	CV2295811	single nucleotide variant	NM_032172.3(USP42):c.1562A>G (p.Lys521Arg)	not specified [RCV004151733]	uncertain significance	7	6149758	6149758	Human		name
155907571	CV2302239	single nucleotide variant	NM_153210.5(USP43):c.2642G>A (p.Arg881Gln)	not specified [RCV004159230]	uncertain significance	17	9728260	9728260	Human		name
156197573	CV2306809	single nucleotide variant	NM_032172.3(USP42):c.2089A>G (p.Asn697Asp)	not specified [RCV004159378]	uncertain significance	7	6150285	6150285	Human		name
156253083	CV2311426	single nucleotide variant	NM_032236.8(USP48):c.2455A>G (p.Ile819Val)	not specified [RCV004168273]	uncertain significance	1	21704322	21704322	Human		name
155961612	CV2311932	single nucleotide variant	NM_032172.3(USP42):c.2635C>G (p.His879Asp)	not specified [RCV004170755]	uncertain significance	7	6154189	6154189	Human		name
155962321	CV2312022	single nucleotide variant	NM_032172.3(USP42):c.2692C>T (p.Arg898Trp)	not specified [RCV004164651]	uncertain significance	7	6154246	6154246	Human		name
156255343	CV2325742	single nucleotide variant	NM_032172.3(USP42):c.2977C>A (p.Arg993Ser)	not specified [RCV004173636]	uncertain significance	7	6154531	6154531	Human		name
156178608	CV2327474	single nucleotide variant	NM_032236.8(USP48):c.2746C>T (p.Arg916Trp)	not specified [RCV004174886]	uncertain significance	1	21695203	21695203	Human		name
156363271	CV2329764	single nucleotide variant	NM_153210.5(USP43):c.2368G>A (p.Val790Met)	not specified [RCV004183237]	uncertain significance	17	9727986	9727986	Human		name
155966706	CV2329829	single nucleotide variant	NM_032172.3(USP42):c.2255C>G (p.Pro752Arg)	not specified [RCV004183290]	uncertain significance	7	6153809	6153809	Human		name
156039653	CV2332742	single nucleotide variant	NM_153210.5(USP43):c.2078G>A (p.Arg693Gln)	not specified [RCV004189415]	uncertain significance	17	9710022	9710022	Human		name
155970992	CV2334166	single nucleotide variant	NM_032172.3(USP42):c.1637T>C (p.Leu546Ser)	not specified [RCV004186156]	uncertain significance	7	6149833	6149833	Human		name
156087747	CV2337798	single nucleotide variant	NM_032172.3(USP42):c.2026C>T (p.Pro676Ser)	not specified [RCV004183813]	uncertain significance	7	6150222	6150222	Human		name
156191581	CV2339847	single nucleotide variant	NM_032172.3(USP42):c.2638G>C (p.Ala880Pro)	not specified [RCV004196530]	uncertain significance	7	6154192	6154192	Human		name
156085482	CV2340404	single nucleotide variant	NM_153210.5(USP43):c.1430G>A (p.Arg477Gln)	not specified [RCV004197134]	uncertain significance	17	9693203	9693203	Human		name
155974496	CV2341441	single nucleotide variant	NM_032172.3(USP42):c.1379T>C (p.Met460Thr)	not specified [RCV004188838]	uncertain significance	7	6147885	6147885	Human		name
156290596	CV2342655	single nucleotide variant	NM_001365479.2(USP40):c.94C>T (p.Pro32Ser)	not specified [RCV004196740]	uncertain significance	2	233565461	233565461	Human		name
156116011	CV2349345	single nucleotide variant	NM_032172.3(USP42):c.2189C>T (p.Thr730Met)	not specified [RCV004199284]	uncertain significance	7	6150494	6150494	Human		name
156119625	CV2354092	single nucleotide variant	NM_153210.5(USP43):c.2363G>A (p.Arg788Gln)	not specified [RCV004206531]	uncertain significance	17	9727981	9727981	Human		name
156239159	CV2356323	single nucleotide variant	NM_001346022.3(USP45):c.92A>G (p.Asp31Gly)	not specified [RCV004206131]	uncertain significance	6	99510129	99510129	Human		name
155906152	CV2357267	single nucleotide variant	NM_153210.5(USP43):c.2446C>T (p.Arg816Trp)	not provided [RCV004695668]\|not specified [RCV004200166]	uncertain significance	17	9728064	9728064	Human		name
156140919	CV2358365	single nucleotide variant	NM_032147.5(USP44):c.1130A>G (p.Gln377Arg)	not specified [RCV004214174]	uncertain significance	12	95533127	95533127	Human		name
156254782	CV2358854	single nucleotide variant	NM_153210.5(USP43):c.1903T>C (p.Ser635Pro)	not specified [RCV004212200]	uncertain significance	17	9701592	9701592	Human		name
156336968	CV2360853	single nucleotide variant	NM_032172.3(USP42):c.1742C>T (p.Pro581Leu)	not specified [RCV004213624]	uncertain significance	7	6149938	6149938	Human		name
156340333	CV2363220	single nucleotide variant	NM_001346022.3(USP45):c.61A>G (p.Thr21Ala)	not specified [RCV004213785]	uncertain significance	6	99510160	99510160	Human		name
156180515	CV2374760	single nucleotide variant	NM_153210.5(USP43):c.2072C>T (p.Pro691Leu)	not specified [RCV004225366]	uncertain significance	17	9710016	9710016	Human		name
156050507	CV2378451	single nucleotide variant	NM_032172.3(USP42):c.2716A>T (p.Met906Leu)	not specified [RCV004226462]	uncertain significance	7	6154270	6154270	Human		name
156227304	CV2388204	single nucleotide variant	NM_032172.3(USP42):c.1807G>A (p.Val603Met)	not specified [RCV004234664]	uncertain significance	7	6150003	6150003	Human		name
156160837	CV2398224	single nucleotide variant	NM_032172.3(USP42):c.2761G>A (p.Gly921Ser)	not specified [RCV004235138]	uncertain significance	7	6154315	6154315	Human		name
155997774	CV2398771	single nucleotide variant	NM_153210.5(USP43):c.2846G>A (p.Gly949Asp)	not specified [RCV004240104]	uncertain significance	17	9728464	9728464	Human		name
156096461	CV2399081	single nucleotide variant	NM_032172.3(USP42):c.1889C>T (p.Thr630Met)	not specified [RCV004246524]	uncertain significance	7	6150085	6150085	Human		name
156227063	CV2401312	single nucleotide variant	NM_153210.5(USP43):c.2722G>A (p.Gly908Ser)	not specified [RCV004245852]	uncertain significance	17	9728340	9728340	Human		name
243049622	CV2417015	single nucleotide variant	NM_001346022.3(USP45):c.904C>T (p.Leu302=)	not provided [RCV003434709]\|not specified [RCV003151687]	likely benign	6	99476172	99476172	Human		name
243050714	CV2417547	single nucleotide variant	NM_032236.8(USP48):c.1216G>A (p.Gly406Arg)	Hearing loss, autosomal dominant 85 [RCV003152419]	pathogenic	1	21729788	21729788	Human	1	name
329368842	CV2424670	single nucleotide variant	NM_032236.8(USP48):c.2216C>T (p.Thr739Met)	not specified [RCV004254539]	uncertain significance	1	21706183	21706183	Human		name
329357122	CV2431253	single nucleotide variant	NM_032147.5(USP44):c.2012A>T (p.Tyr671Phe)	not specified [RCV004250588]	uncertain significance	12	95518281	95518281	Human		name
329370808	CV2435693	single nucleotide variant	NM_001365479.2(USP40):c.52T>C (p.Tyr18His)	not specified [RCV004254927]	uncertain significance	2	233565503	233565503	Human		name
329354192	CV2437641	single nucleotide variant	NM_032172.3(USP42):c.2701G>A (p.Ala901Thr)	not specified [RCV004260959]	uncertain significance	7	6154255	6154255	Human		name
329353711	CV2439571	single nucleotide variant	NM_032172.3(USP42):c.2645A>T (p.Asp882Val)	not specified [RCV004255594]	uncertain significance	7	6154199	6154199	Human		name
329392245	CV2441348	single nucleotide variant	NM_032172.3(USP42):c.1712C>T (p.Thr571Met)	not specified [RCV004257157]	likely benign	7	6149908	6149908	Human		name
329374622	CV2443979	single nucleotide variant	NM_032236.8(USP48):c.2215A>T (p.Thr739Ser)	not specified [RCV004258305]	uncertain significance	1	21706184	21706184	Human		name
329354518	CV2448334	single nucleotide variant	NM_032147.5(USP44):c.1075G>A (p.Gly359Arg)	not specified [RCV004256622]	uncertain significance	12	95533182	95533182	Human		name
329352205	CV2452221	single nucleotide variant	NM_153210.5(USP43):c.2368G>T (p.Val790Leu)	not specified [RCV004278921]	uncertain significance	17	9727986	9727986	Human		name
329391808	CV2453145	single nucleotide variant	NM_032172.3(USP42):c.2745C>A (p.Asp915Glu)	not specified [RCV004279529]	uncertain significance	7	6154299	6154299	Human		name
329356378	CV2460290	single nucleotide variant	NM_032172.3(USP42):c.1849G>A (p.Glu617Lys)	not specified [RCV004266837]	uncertain significance	7	6150045	6150045	Human		name
329395820	CV2462978	single nucleotide variant	NM_153210.5(USP43):c.2527C>T (p.Arg843Trp)	not specified [RCV004272810]	uncertain significance	17	9728145	9728145	Human		name
329374454	CV2463574	single nucleotide variant	NM_032236.8(USP48):c.1796T>C (p.Leu599Ser)	not specified [RCV004277380]	uncertain significance	1	21721134	21721134	Human		name
329398075	CV2466662	single nucleotide variant	NM_153210.5(USP43):c.1916C>G (p.Pro639Arg)	not specified [RCV004274178]	uncertain significance	17	9701605	9701605	Human		name
401727890	CV2678555	single nucleotide variant	NM_032172.3(USP42):c.1186A>G (p.Ile396Val)	not specified [RCV004292565]	uncertain significance	7	6146202	6146202	Human		name
401736968	CV2679193	single nucleotide variant	NM_153210.5(USP43):c.2693A>C (p.Asn898Thr)	not specified [RCV004285752]	uncertain significance	17	9728311	9728311	Human		name
401727465	CV2681040	single nucleotide variant	NM_032172.3(USP42):c.2956C>T (p.Arg986Trp)	not specified [RCV004296104]	uncertain significance	7	6154510	6154510	Human		name
401781179	CV2681916	single nucleotide variant	NM_032147.5(USP44):c.1098G>T (p.Met366Ile)	not specified [RCV004296907]	uncertain significance	12	95533159	95533159	Human		name
401752384	CV2682801	single nucleotide variant	NM_153210.5(USP43):c.1231C>A (p.Gln411Lys)	not specified [RCV004281773]	uncertain significance	17	9682948	9682948	Human		name
401758038	CV2685684	single nucleotide variant	NM_032236.8(USP48):c.1660T>G (p.Cys554Gly)	not specified [RCV004296737]	uncertain significance	1	21721753	21721753	Human		name
401745023	CV2693163	single nucleotide variant	NM_153210.5(USP43):c.2359G>A (p.Val787Ile)	not specified [RCV004293096]	uncertain significance	17	9727977	9727977	Human		name
401725219	CV2697318	single nucleotide variant	NM_032172.3(USP42):c.2273A>C (p.Glu758Ala)	not specified [RCV004304076]	uncertain significance	7	6153827	6153827	Human		name
401748123	CV2700008	single nucleotide variant	NM_153210.5(USP43):c.2462C>A (p.Ser821Tyr)	not specified [RCV004310437]	uncertain significance	17	9728080	9728080	Human		name
401740786	CV2702632	single nucleotide variant	NM_032172.3(USP42):c.2876G>C (p.Arg959Pro)	not specified [RCV004318901]	uncertain significance	7	6154430	6154430	Human		name
401759704	CV2705686	single nucleotide variant	NM_032172.3(USP42):c.2807C>G (p.Ser936Cys)	not specified [RCV004318539]	uncertain significance	7	6154361	6154361	Human		name
401778469	CV2709160	single nucleotide variant	NM_032172.3(USP42):c.2779G>A (p.Ala927Thr)	not specified [RCV004316345]	uncertain significance	7	6154333	6154333	Human		name
401721931	CV2710240	single nucleotide variant	NM_153210.5(USP43):c.2701C>G (p.Leu901Val)	not specified [RCV004317137]	uncertain significance	17	9728319	9728319	Human		name
401763126	CV2710449	single nucleotide variant	NM_032172.3(USP42):c.2269G>A (p.Ala757Thr)	not specified [RCV004317602]	uncertain significance	7	6153823	6153823	Human		name
401771103	CV2726365	single nucleotide variant	NM_032172.3(USP42):c.2969G>A (p.Arg990His)	not specified [RCV004326798]	uncertain significance	7	6154523	6154523	Human		name
401769472	CV2731308	single nucleotide variant	NM_032236.8(USP48):c.1606G>A (p.Asp536Asn)	not specified [RCV004333771]	uncertain significance	1	21723940	21723940	Human		name
401857011	CV2759923	single nucleotide variant	NM_032172.3(USP42):c.1597C>G (p.Arg533Gly)	not specified [RCV004345348]	uncertain significance	7	6149793	6149793	Human		name
401881094	CV2763240	single nucleotide variant	NM_153210.5(USP43):c.2342T>G (p.Leu781Trp)	not specified [RCV004336273]	uncertain significance	17	9727960	9727960	Human		name
401889823	CV2763428	single nucleotide variant	NM_032172.3(USP42):c.1657G>A (p.Val553Ile)	not specified [RCV004349317]	uncertain significance	7	6149853	6149853	Human		name
401890995	CV2768892	single nucleotide variant	NM_153210.5(USP43):c.2837G>A (p.Arg946Gln)	not specified [RCV004346999]	uncertain significance	17	9728455	9728455	Human		name
401894037	CV2774390	single nucleotide variant	NM_032172.3(USP42):c.2006C>T (p.Pro669Leu)	not specified [RCV004347732]	likely benign	7	6150202	6150202	Human		name
401885743	CV2774496	single nucleotide variant	NM_032172.3(USP42):c.2309G>A (p.Ser770Asn)	not specified [RCV004349985]	uncertain significance	7	6153863	6153863	Human		name
401880838	CV2787659	single nucleotide variant	NM_032172.3(USP42):c.2446C>T (p.Pro816Ser)	not specified [RCV004356585]	likely benign	7	6154000	6154000	Human		name
401909417	CV2816452	single nucleotide variant	NM_001282659.2(USP47):c.309C>T (p.Asn103=)	not provided [RCV003397929]	likely benign	11	11884532	11884532	Human		name
401920768	CV2820569	single nucleotide variant	NM_001346022.3(USP45):c.627A>G (p.Ala209=)	not provided [RCV003431961]	likely benign	6	99488287	99488287	Human		name
405800743	CV3338256	single nucleotide variant	NM_001365479.2(USP40):c.50A>T (p.Gln17Leu)	not specified [RCV004477455]	uncertain significance	2	233565505	233565505	Human		name
405800745	CV3338257	single nucleotide variant	NM_032172.3(USP42):c.1144C>T (p.Leu382Phe)	not specified [RCV004477456]	uncertain significance	7	6146160	6146160	Human		name
405800747	CV3338258	single nucleotide variant	NM_032172.3(USP42):c.1487T>C (p.Val496Ala)	not specified [RCV004477457]	uncertain significance	7	6149683	6149683	Human		name
405800749	CV3338259	single nucleotide variant	NM_032172.3(USP42):c.1598G>T (p.Arg533Leu)	not specified [RCV004477458]	uncertain significance	7	6149794	6149794	Human		name
405800751	CV3338260	single nucleotide variant	NM_032172.3(USP42):c.1615C>T (p.Pro539Ser)	not specified [RCV004477459]	uncertain significance	7	6149811	6149811	Human		name
405800753	CV3338261	single nucleotide variant	NM_032172.3(USP42):c.1625A>G (p.His542Arg)	not specified [RCV004477460]	uncertain significance	7	6149821	6149821	Human		name
405800755	CV3338262	single nucleotide variant	NM_032172.3(USP42):c.1649C>G (p.Thr550Ser)	not specified [RCV004477461]	likely benign	7	6149845	6149845	Human		name
405800757	CV3338263	single nucleotide variant	NM_032172.3(USP42):c.1666T>C (p.Ser556Pro)	not specified [RCV004477462]	uncertain significance	7	6149862	6149862	Human		name
405800759	CV3338264	single nucleotide variant	NM_032172.3(USP42):c.1723T>A (p.Ser575Thr)	not specified [RCV004477463]	uncertain significance	7	6149919	6149919	Human		name
405800761	CV3338265	single nucleotide variant	NM_032172.3(USP42):c.1750C>T (p.Arg584Cys)	not specified [RCV004477464]	uncertain significance	7	6149946	6149946	Human		name
405800762	CV3338266	single nucleotide variant	NM_032172.3(USP42):c.1943C>T (p.Pro648Leu)	not specified [RCV004477465]	uncertain significance	7	6150139	6150139	Human		name
405800766	CV3338268	single nucleotide variant	NM_032172.3(USP42):c.2063A>C (p.His688Pro)	not specified [RCV004477467]	uncertain significance	7	6150259	6150259	Human		name
405800974	CV3338269	single nucleotide variant	NM_032172.3(USP42):c.2065T>G (p.Ser689Ala)	not specified [RCV004477468]	uncertain significance	7	6150261	6150261	Human		name
405800770	CV3338270	single nucleotide variant	NM_032172.3(USP42):c.2395G>A (p.Glu799Lys)	not specified [RCV004477469]	uncertain significance	7	6153949	6153949	Human		name
405800772	CV3338271	single nucleotide variant	NM_032172.3(USP42):c.2474C>T (p.Thr825Ile)	not specified [RCV004477470]	uncertain significance	7	6154028	6154028	Human		name
405800774	CV3338272	single nucleotide variant	NM_032172.3(USP42):c.2489C>T (p.Pro830Leu)	not specified [RCV004477471]	uncertain significance	7	6154043	6154043	Human		name
405800776	CV3338273	single nucleotide variant	NM_032172.3(USP42):c.2546C>T (p.Ala849Val)	not specified [RCV004477472]	likely benign	7	6154100	6154100	Human		name
405800777	CV3338274	single nucleotide variant	NM_032172.3(USP42):c.2554C>T (p.Pro852Ser)	not specified [RCV004477473]	uncertain significance	7	6154108	6154108	Human		name
405800779	CV3338275	single nucleotide variant	NM_032172.3(USP42):c.2572G>A (p.Ala858Thr)	not specified [RCV004477474]	uncertain significance	7	6154126	6154126	Human		name
405800783	CV3338277	single nucleotide variant	NM_032172.3(USP42):c.2632G>T (p.Asp878Tyr)	not specified [RCV004477476]	uncertain significance	7	6154186	6154186	Human		name
405800785	CV3338278	single nucleotide variant	NM_032172.3(USP42):c.2702C>T (p.Ala901Val)	not specified [RCV004477477]	uncertain significance	7	6154256	6154256	Human		name
405800787	CV3338279	single nucleotide variant	NM_032172.3(USP42):c.2755A>G (p.Ser919Gly)	not specified [RCV004477478]	uncertain significance	7	6154309	6154309	Human		name
405800791	CV3338281	single nucleotide variant	NM_032172.3(USP42):c.2795C>T (p.Ala932Val)	not specified [RCV004477480]	likely benign	7	6154349	6154349	Human		name
405800793	CV3338282	single nucleotide variant	NM_032172.3(USP42):c.2849G>A (p.Arg950Gln)	not specified [RCV004477481]	uncertain significance	7	6154403	6154403	Human		name
405800794	CV3338283	single nucleotide variant	NM_032172.3(USP42):c.2918C>T (p.Thr973Ile)	not specified [RCV004477482]	uncertain significance	7	6154472	6154472	Human		name
405800796	CV3338284	single nucleotide variant	NM_032172.3(USP42):c.2936G>A (p.Arg979Gln)	not specified [RCV004477483]	uncertain significance	7	6154490	6154490	Human		name
405800830	CV3338301	single nucleotide variant	NM_153210.5(USP43):c.1042G>A (p.Ala348Thr)	not specified [RCV004477500]	uncertain significance	17	9680303	9680303	Human		name
405800832	CV3338302	single nucleotide variant	NM_153210.5(USP43):c.1193T>C (p.Val398Ala)	not specified [RCV004477501]	uncertain significance	17	9682910	9682910	Human		name
405800834	CV3338303	single nucleotide variant	NM_153210.5(USP43):c.1505C>T (p.Ala502Val)	not specified [RCV004477502]	uncertain significance	17	9700219	9700219	Human		name
405800838	CV3338305	single nucleotide variant	NM_153210.5(USP43):c.1940C>T (p.Pro647Leu)	not specified [RCV004477504]	uncertain significance	17	9701629	9701629	Human		name
405800840	CV3338306	single nucleotide variant	NM_153210.5(USP43):c.2014T>C (p.Tyr672His)	not specified [RCV004477505]	uncertain significance	17	9709958	9709958	Human		name
405800842	CV3338307	single nucleotide variant	NM_153210.5(USP43):c.2119T>C (p.Tyr707His)	not specified [RCV004477506]	uncertain significance	17	9710063	9710063	Human		name
405800844	CV3338308	single nucleotide variant	NM_153210.5(USP43):c.2171G>C (p.Gly724Ala)	not specified [RCV004477507]	uncertain significance	17	9711968	9711968	Human		name
405800846	CV3338309	single nucleotide variant	NM_153210.5(USP43):c.2473C>A (p.Pro825Thr)	not specified [RCV004477508]	uncertain significance	17	9728091	9728091	Human		name
405800848	CV3338310	single nucleotide variant	NM_153210.5(USP43):c.2561C>T (p.Thr854Met)	not specified [RCV004477509]	uncertain significance	17	9728179	9728179	Human		name
405800850	CV3338311	single nucleotide variant	NM_153210.5(USP43):c.2611G>A (p.Ala871Thr)	not specified [RCV004477510]	likely benign	17	9728229	9728229	Human		name
405800852	CV3338312	single nucleotide variant	NM_153210.5(USP43):c.2798T>G (p.Leu933Arg)	not specified [RCV004477511]	uncertain significance	17	9728416	9728416	Human		name
405800855	CV3338314	single nucleotide variant	NM_153210.5(USP43):c.2873G>A (p.Ser958Asn)	not specified [RCV004477513]	uncertain significance	17	9728491	9728491	Human		name
405800857	CV3338315	single nucleotide variant	NM_153210.5(USP43):c.2954C>T (p.Thr985Ile)	not specified [RCV004477514]	uncertain significance	17	9728572	9728572	Human		name
405800859	CV3338316	single nucleotide variant	NM_153210.5(USP43):c.2971C>T (p.Pro991Ser)	not specified [RCV004477515]	uncertain significance	17	9728589	9728589	Human		name
405800876	CV3338325	single nucleotide variant	NM_032147.5(USP44):c.1073G>A (p.Gly358Asp)	not specified [RCV004477524]	uncertain significance	12	95533184	95533184	Human		name
405800879	CV3338327	single nucleotide variant	NM_032147.5(USP44):c.1598A>G (p.Lys533Arg)	not specified [RCV004477526]	uncertain significance	12	95528833	95528833	Human		name
405800881	CV3338328	single nucleotide variant	NM_032147.5(USP44):c.1600A>G (p.Ile534Val)	not specified [RCV004477527]	uncertain significance	12	95528831	95528831	Human		name
405800990	CV3338361	single nucleotide variant	NM_032236.8(USP48):c.1007A>G (p.Tyr336Cys)	not specified [RCV004477560]	uncertain significance	1	21736610	21736610	Human		name
405800992	CV3338362	single nucleotide variant	NM_032236.8(USP48):c.1549G>A (p.Asp517Asn)	not specified [RCV004477561]	uncertain significance	1	21723997	21723997	Human		name
405800996	CV3338364	single nucleotide variant	NM_032236.8(USP48):c.1612T>C (p.Phe538Leu)	not specified [RCV004477563]	uncertain significance	1	21723934	21723934	Human		name
405800997	CV3338365	single nucleotide variant	NM_032236.8(USP48):c.1802G>T (p.Ser601Ile)	not specified [RCV004477564]	uncertain significance	1	21721128	21721128	Human		name
405800999	CV3338366	single nucleotide variant	NM_032236.8(USP48):c.2459C>T (p.Thr820Met)	not specified [RCV004477565]	likely benign	1	21704318	21704318	Human		name
405801001	CV3338367	single nucleotide variant	NM_032236.8(USP48):c.2980G>A (p.Val994Ile)	not specified [RCV004477566]	uncertain significance	1	21690003	21690003	Human		name
407528881	CV3487645	single nucleotide variant	NM_032172.3(USP42):c.1472A>G (p.Asn491Ser)	not specified [RCV004680613]	likely benign	7	6149668	6149668	Human		name
407528888	CV3487649	single nucleotide variant	NM_032172.3(USP42):c.1277A>G (p.His426Arg)	not specified [RCV004680617]	uncertain significance	7	6147783	6147783	Human		name
407528890	CV3487650	single nucleotide variant	NM_032172.3(USP42):c.2851G>A (p.Gly951Ser)	not specified [RCV004680618]	uncertain significance	7	6154405	6154405	Human		name
407528892	CV3487651	single nucleotide variant	NM_032172.3(USP42):c.1912G>A (p.Gly638Ser)	not specified [RCV004680619]	uncertain significance	7	6150108	6150108	Human		name
407528894	CV3487652	single nucleotide variant	NM_032172.3(USP42):c.1748C>G (p.Pro583Arg)	not specified [RCV004680620]	uncertain significance	7	6149944	6149944	Human		name
407528898	CV3487654	single nucleotide variant	NM_032172.3(USP42):c.2675C>T (p.Ala892Val)	not specified [RCV004680622]	likely benign	7	6154229	6154229	Human		name
407528900	CV3487655	single nucleotide variant	NM_032172.3(USP42):c.2907C>A (p.Ser969Arg)	not specified [RCV004680623]	uncertain significance	7	6154461	6154461	Human		name
407528902	CV3487656	single nucleotide variant	NM_032172.3(USP42):c.2528C>T (p.Pro843Leu)	not specified [RCV004680624]	uncertain significance	7	6154082	6154082	Human		name
407528906	CV3487658	single nucleotide variant	NM_032172.3(USP42):c.2632G>A (p.Asp878Asn)	not specified [RCV004680626]	uncertain significance	7	6154186	6154186	Human		name
407528908	CV3487659	single nucleotide variant	NM_032172.3(USP42):c.2812G>A (p.Ala938Thr)	not specified [RCV004680627]	uncertain significance	7	6154366	6154366	Human		name
407528911	CV3487660	single nucleotide variant	NM_032172.3(USP42):c.2595G>T (p.Glu865Asp)	not specified [RCV004680628]	likely benign	7	6154149	6154149	Human		name
407528913	CV3487661	single nucleotide variant	NM_032172.3(USP42):c.2722C>A (p.Pro908Thr)	not specified [RCV004680629]	likely benign	7	6154276	6154276	Human		name
407528914	CV3487662	single nucleotide variant	NM_032172.3(USP42):c.2519C>T (p.Ala840Val)	not specified [RCV004680630]	uncertain significance	7	6154073	6154073	Human		name
407528916	CV3487663	single nucleotide variant	NM_032172.3(USP42):c.1628G>A (p.Ser543Asn)	not specified [RCV004680631]	likely benign	7	6149824	6149824	Human		name
407528922	CV3487666	single nucleotide variant	NM_032172.3(USP42):c.2984C>G (p.Ala995Gly)	not specified [RCV004680634]	uncertain significance	7	6154538	6154538	Human		name
407528924	CV3487667	single nucleotide variant	NM_032172.3(USP42):c.1828G>A (p.Glu610Lys)	not specified [RCV004680635]	uncertain significance	7	6150024	6150024	Human		name
407528928	CV3487669	single nucleotide variant	NM_153210.5(USP43):c.1565C>T (p.Ala522Val)	not specified [RCV004680637]	likely benign	17	9701148	9701148	Human		name
407528930	CV3487670	single nucleotide variant	NM_153210.5(USP43):c.2244C>A (p.Ser748Arg)	not specified [RCV004680638]	uncertain significance	17	9712041	9712041	Human		name
407464630	CV3487673	single nucleotide variant	NM_153210.5(USP43):c.2688A>T (p.Gln896His)	not specified [RCV004688555]	likely benign	17	9728306	9728306	Human		name
407464634	CV3487674	single nucleotide variant	NM_153210.5(USP43):c.1026G>C (p.Glu342Asp)	not specified [RCV004688556]	uncertain significance	17	9680287	9680287	Human		name
407528936	CV3487675	single nucleotide variant	NM_032147.5(USP44):c.1141C>G (p.Leu381Val)	not specified [RCV004680641]	uncertain significance	12	95533116	95533116	Human		name
407528963	CV3487688	single nucleotide variant	NM_032236.8(USP48):c.1345G>C (p.Glu449Gln)	not specified [RCV004680653]	uncertain significance	1	21728675	21728675	Human		name
407529076	CV3487689	single nucleotide variant	NM_032236.8(USP48):c.1277C>T (p.Pro426Leu)	not specified [RCV004680654]	uncertain significance	1	21729727	21729727	Human		name
407529072	CV3487693	single nucleotide variant	NM_032236.8(USP48):c.2845G>A (p.Val949Ile)	not specified [RCV004680656]	uncertain significance	1	21695104	21695104	Human		name
597798975	CV3623084	single nucleotide variant	NM_032172.3(USP42):c.1928A>G (p.Asp643Gly)	not specified [RCV004879448]	uncertain significance	7	6150124	6150124	Human		name
597798979	CV3623087	single nucleotide variant	NM_032172.3(USP42):c.1645C>G (p.Pro549Ala)	not specified [RCV004879450]	likely benign	7	6149841	6149841	Human		name
597798981	CV3623088	single nucleotide variant	NM_032172.3(USP42):c.2294C>G (p.Ala765Gly)	not specified [RCV004879451]	uncertain significance	7	6153848	6153848	Human		name
597798988	CV3623091	single nucleotide variant	NM_032172.3(USP42):c.2804C>T (p.Pro935Leu)	not specified [RCV004879454]	uncertain significance	7	6154358	6154358	Human		name
597798994	CV3623094	single nucleotide variant	NM_032172.3(USP42):c.2686G>A (p.Ala896Thr)	not specified [RCV004879457]	uncertain significance	7	6154240	6154240	Human		name
597798997	CV3623095	single nucleotide variant	NM_032172.3(USP42):c.1974C>G (p.Asn658Lys)	not specified [RCV004879458]	uncertain significance	7	6150170	6150170	Human		name
597724141	CV3623099	single nucleotide variant	NM_032172.3(USP42):c.2523G>C (p.Glu841Asp)	not specified [RCV004888144]	uncertain significance	7	6154077	6154077	Human		name
597799007	CV3623101	single nucleotide variant	NM_032172.3(USP42):c.2569C>G (p.Pro857Ala)	not specified [RCV004879463]	uncertain significance	7	6154123	6154123	Human		name
597724152	CV3623102	single nucleotide variant	NM_032172.3(USP42):c.1285G>A (p.Gly429Ser)	not specified [RCV004888145]	uncertain significance	7	6147791	6147791	Human		name
597724172	CV3623104	single nucleotide variant	NM_032172.3(USP42):c.2483C>T (p.Ala828Val)	not specified [RCV004888147]	uncertain significance	7	6154037	6154037	Human		name
597799244	CV3623106	single nucleotide variant	NM_032172.3(USP42):c.2036C>T (p.Ala679Val)	not specified [RCV004879465]	uncertain significance	7	6150232	6150232	Human		name
597799239	CV3623109	single nucleotide variant	NM_032172.3(USP42):c.1918G>C (p.Asp640His)	not specified [RCV004879467]	uncertain significance	7	6150114	6150114	Human		name
597799237	CV3623110	single nucleotide variant	NM_032172.3(USP42):c.2638G>A (p.Ala880Thr)	not specified [RCV004879468]	uncertain significance	7	6154192	6154192	Human		name
597799235	CV3623111	single nucleotide variant	NM_032172.3(USP42):c.1391C>A (p.Pro464Gln)	not specified [RCV004879469]	uncertain significance	7	6149587	6149587	Human		name
597799234	CV3623114	single nucleotide variant	NM_032172.3(USP42):c.2041T>C (p.Cys681Arg)	not specified [RCV004879470]	uncertain significance	7	6150237	6150237	Human		name
597696620	CV3623115	single nucleotide variant	NM_032172.3(USP42):c.1010A>G (p.Tyr337Cys)	not specified [RCV004885175]	uncertain significance	7	6145535	6145535	Human		name
597799231	CV3623119	single nucleotide variant	NM_032172.3(USP42):c.1653G>C (p.Lys551Asn)	not specified [RCV004879471]	uncertain significance	7	6149849	6149849	Human		name
597799229	CV3623120	single nucleotide variant	NM_153210.5(USP43):c.1581T>G (p.Ser527Arg)	not specified [RCV004879472]	uncertain significance	17	9701164	9701164	Human		name
597799225	CV3623123	single nucleotide variant	NM_153210.5(USP43):c.2914A>G (p.Met972Val)	not specified [RCV004879474]	likely benign	17	9728532	9728532	Human		name
597799224	CV3623124	single nucleotide variant	NM_153210.5(USP43):c.2021G>A (p.Arg674Gln)	not specified [RCV004879475]	uncertain significance	17	9709965	9709965	Human		name
597696661	CV3623125	single nucleotide variant	NM_153210.5(USP43):c.1429C>T (p.Arg477Trp)	not specified [RCV004885180]	uncertain significance	17	9693202	9693202	Human		name
597799219	CV3623127	single nucleotide variant	NM_153210.5(USP43):c.1708C>A (p.Gln570Lys)	not specified [RCV004879477]	uncertain significance	17	9701397	9701397	Human		name
597799215	CV3623129	single nucleotide variant	NM_153210.5(USP43):c.2922C>A (p.Phe974Leu)	not specified [RCV004879479]	likely benign	17	9728540	9728540	Human		name
597799213	CV3623130	single nucleotide variant	NM_153210.5(USP43):c.1562G>A (p.Arg521Gln)	not specified [RCV004879480]	uncertain significance	17	9701145	9701145	Human		name
597696668	CV3623131	single nucleotide variant	NM_153210.5(USP43):c.1148G>A (p.Arg383His)	not specified [RCV004885181]	uncertain significance	17	9682865	9682865	Human		name
597696674	CV3623133	single nucleotide variant	NM_153210.5(USP43):c.1115T>C (p.Leu372Pro)	not specified [RCV004885182]	likely benign	17	9682832	9682832	Human		name
597696683	CV3623134	single nucleotide variant	NM_153210.5(USP43):c.2842G>A (p.Glu948Lys)	not specified [RCV004885183]	uncertain significance	17	9728460	9728460	Human		name
597799209	CV3623135	single nucleotide variant	NM_153210.5(USP43):c.1007G>T (p.Arg336Leu)	not specified [RCV004879482]	uncertain significance	17	9680268	9680268	Human		name
597799206	CV3623137	single nucleotide variant	NM_153210.5(USP43):c.2366G>A (p.Gly789Asp)	not specified [RCV004879484]	uncertain significance	17	9727984	9727984	Human		name
597696692	CV3623138	single nucleotide variant	NM_153210.5(USP43):c.2906C>T (p.Ser969Phe)	not specified [RCV004885184]	uncertain significance	17	9728524	9728524	Human		name
597696702	CV3623142	single nucleotide variant	NM_153210.5(USP43):c.1127C>T (p.Ala376Val)	not specified [RCV004885185]	likely benign	17	9682844	9682844	Human		name
597799012	CV3623145	single nucleotide variant	NM_032147.5(USP44):c.1253G>A (p.Gly418Asp)	not specified [RCV004879489]	uncertain significance	12	95533004	95533004	Human		name
597799018	CV3623148	single nucleotide variant	NM_032147.5(USP44):c.1469A>G (p.Glu490Gly)	not specified [RCV004879492]	uncertain significance	12	95528962	95528962	Human		name
597799020	CV3623149	single nucleotide variant	NM_032147.5(USP44):c.2110G>T (p.Asp704Tyr)	not specified [RCV004879493]	uncertain significance	12	95518183	95518183	Human		name
597799022	CV3623150	single nucleotide variant	NM_032147.5(USP44):c.1033G>C (p.Val345Leu)	not specified [RCV004879494]	uncertain significance	12	95533224	95533224	Human		name
597799025	CV3623151	single nucleotide variant	NM_032147.5(USP44):c.1216C>G (p.Leu406Val)	not specified [RCV004879495]	uncertain significance	12	95533041	95533041	Human		name
597696718	CV3623152	single nucleotide variant	NM_032147.5(USP44):c.1505G>A (p.Arg502Lys)	not specified [RCV004885187]	uncertain significance	12	95528926	95528926	Human		name
597799027	CV3623154	single nucleotide variant	NM_032147.5(USP44):c.2081T>G (p.Leu694Trp)	not specified [RCV004879496]	uncertain significance	12	95518212	95518212	Human		name
597799029	CV3623155	single nucleotide variant	NM_032147.5(USP44):c.1658T>C (p.Val553Ala)	not specified [RCV004879497]	uncertain significance	12	95524755	95524755	Human		name
597799033	CV3623157	single nucleotide variant	NM_032147.5(USP44):c.1164G>T (p.Leu388Phe)	not specified [RCV004879499]	uncertain significance	12	95533093	95533093	Human		name
597799049	CV3623169	single nucleotide variant	NM_001346022.3(USP45):c.71A>G (p.His24Arg)	not specified [RCV004879507]	uncertain significance	6	99510150	99510150	Human		name
597696825	CV3623195	single nucleotide variant	NM_032236.8(USP48):c.1359A>C (p.Glu453Asp)	not specified [RCV004885199]	uncertain significance	1	21728661	21728661	Human		name
597696834	CV3623196	single nucleotide variant	NM_032236.8(USP48):c.2478T>A (p.Asp826Glu)	not specified [RCV004885200]	uncertain significance	1	21704299	21704299	Human		name
597799084	CV3623197	single nucleotide variant	NM_032236.8(USP48):c.2763T>A (p.His921Gln)	not specified [RCV004879524]	uncertain significance	1	21695186	21695186	Human		name
597696844	CV3623198	single nucleotide variant	NM_032236.8(USP48):c.1324C>T (p.Arg442Trp)	not specified [RCV004885201]	uncertain significance	1	21728696	21728696	Human		name
597799086	CV3623199	single nucleotide variant	NM_032236.8(USP48):c.2356G>T (p.Ala786Ser)	not specified [RCV004879525]	uncertain significance	1	21705755	21705755	Human		name
597696853	CV3623200	single nucleotide variant	NM_032236.8(USP48):c.2038C>T (p.Pro680Ser)	not specified [RCV004885202]	uncertain significance	1	21706794	21706794	Human		name
598275316	CV3932861	single nucleotide variant	NM_001365479.2(USP40):c.28T>C (p.Tyr10His)	not specified [RCV005304450]	uncertain significance	2	233565527	233565527	Human		name
598275319	CV3932867	single nucleotide variant	NM_032172.3(USP42):c.2440G>A (p.Ala814Thr)	not specified [RCV005304453]	uncertain significance	7	6153994	6153994	Human		name
598275320	CV3932868	single nucleotide variant	NM_032172.3(USP42):c.1876A>C (p.Asn626His)	not specified [RCV005304454]	uncertain significance	7	6150072	6150072	Human		name
598238700	CV3932872	single nucleotide variant	NM_032172.3(USP42):c.2546C>A (p.Ala849Glu)	not specified [RCV005296458]	uncertain significance	7	6154100	6154100	Human		name
598238708	CV3932874	single nucleotide variant	NM_032172.3(USP42):c.2441C>T (p.Ala814Val)	not specified [RCV005296460]	uncertain significance	7	6153995	6153995	Human		name
598204366	CV3932880	single nucleotide variant	NM_032172.3(USP42):c.2575C>G (p.Pro859Ala)	not specified [RCV005290680]	uncertain significance	7	6154129	6154129	Human		name
598238723	CV3932881	single nucleotide variant	NM_032172.3(USP42):c.2701G>C (p.Ala901Pro)	not specified [RCV005296463]	uncertain significance	7	6154255	6154255	Human		name
598238729	CV3932882	single nucleotide variant	NM_032172.3(USP42):c.2365G>C (p.Gly789Arg)	not specified [RCV005296464]	uncertain significance	7	6153919	6153919	Human		name
598238735	CV3932883	single nucleotide variant	NM_032172.3(USP42):c.2582C>T (p.Ala861Val)	not specified [RCV005296465]	likely benign	7	6154136	6154136	Human		name
598238741	CV3932884	single nucleotide variant	NM_032172.3(USP42):c.2863A>C (p.Ser955Arg)	not specified [RCV005296466]	uncertain significance	7	6154417	6154417	Human		name
598204411	CV3932892	single nucleotide variant	NM_032172.3(USP42):c.2257G>T (p.Gly753Cys)	not specified [RCV005290686]	uncertain significance	7	6153811	6153811	Human		name
598238756	CV3932896	single nucleotide variant	NM_032172.3(USP42):c.1378A>G (p.Met460Val)	not specified [RCV005296469]	likely benign	7	6147884	6147884	Human		name
598204440	CV3932900	single nucleotide variant	NM_032172.3(USP42):c.1262T>A (p.Leu421His)	not specified [RCV005290691]	uncertain significance	7	6147768	6147768	Human		name
598204452	CV3932902	single nucleotide variant	NM_032172.3(USP42):c.2351C>T (p.Pro784Leu)	not specified [RCV005290693]	uncertain significance	7	6153905	6153905	Human		name
598238775	CV3932903	single nucleotide variant	NM_153210.5(USP43):c.1321C>T (p.Arg441Cys)	not specified [RCV005296472]	uncertain significance	17	9686877	9686877	Human		name
598204457	CV3932904	single nucleotide variant	NM_153210.5(USP43):c.2256G>C (p.Trp752Cys)	not specified [RCV005290694]	uncertain significance	17	9712053	9712053	Human		name
598204463	CV3932905	single nucleotide variant	NM_153210.5(USP43):c.2657G>T (p.Gly886Val)	not specified [RCV005290695]	likely benign	17	9728275	9728275	Human		name
598204468	CV3932906	single nucleotide variant	NM_153210.5(USP43):c.2333A>G (p.Lys778Arg)	not specified [RCV005290696]	uncertain significance	17	9712130	9712130	Human		name
598204474	CV3932907	single nucleotide variant	NM_153210.5(USP43):c.2605A>G (p.Asn869Asp)	not specified [RCV005290697]	uncertain significance	17	9728223	9728223	Human		name
598238786	CV3932911	single nucleotide variant	NM_032147.5(USP44):c.1677A>C (p.Lys559Asn)	not specified [RCV005296474]	uncertain significance	12	95524736	95524736	Human		name
598238797	CV3932913	single nucleotide variant	NM_032147.5(USP44):c.1259C>A (p.Ala420Asp)	not specified [RCV005296476]	uncertain significance	12	95532998	95532998	Human		name
598238856	CV3932931	single nucleotide variant	NM_032236.8(USP48):c.1288G>A (p.Val430Ile)	not specified [RCV005296486]	uncertain significance	1	21729716	21729716	Human		name
598238862	CV3932932	single nucleotide variant	NM_032236.8(USP48):c.2906C>T (p.Ala969Val)	not specified [RCV005296487]	uncertain significance	1	21690077	21690077	Human		name
598238868	CV3932933	single nucleotide variant	NM_032236.8(USP48):c.2230A>G (p.Ile744Val)	not specified [RCV005296488]	uncertain significance	1	21706169	21706169	Human		name
13798471	CV551278	single nucleotide variant	NM_032236.8(USP48):c.1562C>T (p.Pro521Leu)	not provided [RCV000678385]	uncertain significance	1	21723984	21723984	Human		name
15170584	CV697419	single nucleotide variant	NM_001365479.2(USP40):c.711G>A (p.Lys237=)	not provided [RCV000949678]	benign	2	233551502	233551502	Human		name
15171173	CV702550	single nucleotide variant	NM_032147.5(USP44):c.1042A>G (p.Arg348Gly)	not provided [RCV000949784]	benign	12	95533215	95533215	Human		name
15153503	CV708114	single nucleotide variant	NM_001365479.2(USP40):c.429C>T (p.Ser143=)	not provided [RCV000968556]	benign	2	233556972	233556972	Human		name
15184461	CV710651	single nucleotide variant	NM_001346022.3(USP45):c.390T>C (p.Cys130=)	not provided [RCV000975118]	benign	6	99503853	99503853	Human		name
8636418	CV91643	single nucleotide variant	NM_153210.4(USP43):c.2299C>T (p.Pro767Ser)	Malignant melanoma [RCV000071741]	not provided	17	9712096	9712096	Human		name
8636419	CV91644	single nucleotide variant	NM_153210.4(USP43):c.2531C>T (p.Ser844Phe)	Malignant melanoma [RCV000071742]	not provided	17	9728149	9728149	Human		name
152980796	CV1676130	single nucleotide variant	NM_001346022.3(USP45):c.1710A>G (p.Gly570=)	Leber congenital amaurosis 19 [RCV002245198]	benign	6	99446062	99446062	Human	1	name
152980802	CV1676134	single nucleotide variant	NM_001346022.3(USP45):c.199A>G (p.Lys67Glu)	Leber congenital amaurosis 19 [RCV002245202]	benign	6	99508684	99508684	Human	1	name
156274077	CV2202568	single nucleotide variant	NM_032172.3(USP42):c.3439C>T (p.Leu1147Phe)	not specified [RCV004080851]	uncertain significance	7	6154993	6154993	Human		name
155979721	CV2215249	single nucleotide variant	NM_032172.3(USP42):c.3896G>A (p.Arg1299Gln)	not specified [RCV004086952]	uncertain significance	7	6157008	6157008	Human		name
156386496	CV2228231	single nucleotide variant	NM_032172.3(USP42):c.3133G>C (p.Gly1045Arg)	not specified [RCV004097965]	uncertain significance	7	6154687	6154687	Human		name
156063041	CV2232118	single nucleotide variant	NM_032172.3(USP42):c.3505A>G (p.Asn1169Asp)	not specified [RCV004093153]	uncertain significance	7	6155059	6155059	Human		name
156180379	CV2246015	single nucleotide variant	NM_032172.3(USP42):c.3386C>G (p.Pro1129Arg)	not specified [RCV004113933]	uncertain significance	7	6154940	6154940	Human		name
156212088	CV2259926	single nucleotide variant	NM_032172.3(USP42):c.3370G>T (p.Ala1124Ser)	not specified [RCV004118955]	uncertain significance	7	6154924	6154924	Human		name
156212105	CV2259927	single nucleotide variant	NM_032172.3(USP42):c.3371C>T (p.Ala1124Val)	not specified [RCV004118956]	uncertain significance	7	6154925	6154925	Human		name
156158237	CV2262464	single nucleotide variant	NM_032172.3(USP42):c.3894A>T (p.Leu1298Phe)	not specified [RCV004128902]	uncertain significance	7	6157006	6157006	Human		name
155917066	CV2278527	single nucleotide variant	NM_032172.3(USP42):c.3631C>A (p.Arg1211Ser)	not specified [RCV004132963]	uncertain significance	7	6155185	6155185	Human		name
155994310	CV2286399	single nucleotide variant	NM_001286554.2(USP49):c.103G>A (p.Val35Met)	not specified [RCV004139922]	uncertain significance	6	41806881	41806881	Human		name
156284190	CV2288958	single nucleotide variant	NM_001286554.2(USP49):c.160G>A (p.Ala54Thr)	not specified [RCV004599531]	uncertain significance	6	41806824	41806824	Human		name
156198084	CV2306847	single nucleotide variant	NM_032172.3(USP42):c.3812G>A (p.Arg1271Gln)	not specified [RCV004159412]	uncertain significance	7	6156924	6156924	Human		name
155964153	CV2308355	single nucleotide variant	NM_032172.3(USP42):c.3776C>G (p.Pro1259Arg)	not specified [RCV004164835]	uncertain significance	7	6156888	6156888	Human		name
156288754	CV2309609	single nucleotide variant	NM_032172.3(USP42):c.3887A>T (p.Lys1296Ile)	not specified [RCV004158983]	uncertain significance	7	6156999	6156999	Human		name
156066519	CV2317852	single nucleotide variant	NM_032172.3(USP42):c.3810C>A (p.Phe1270Leu)	not specified [RCV004175090]	uncertain significance	7	6156922	6156922	Human		name
156273065	CV2323495	single nucleotide variant	NM_032172.3(USP42):c.3151C>G (p.Pro1051Ala)	not specified [RCV004165703]	likely benign	7	6154705	6154705	Human		name
156360945	CV2329716	single nucleotide variant	NM_032172.3(USP42):c.3740C>T (p.Ser1247Leu)	not specified [RCV004180820]	uncertain significance	7	6156852	6156852	Human		name
155967505	CV2329927	single nucleotide variant	NM_032172.3(USP42):c.3037T>G (p.Ser1013Ala)	not specified [RCV004183382]	uncertain significance	7	6154591	6154591	Human		name
155972275	CV2334318	single nucleotide variant	NM_032172.3(USP42):c.3733A>G (p.Arg1245Gly)	not specified [RCV004188298]	uncertain significance	7	6156845	6156845	Human		name
155973091	CV2334401	single nucleotide variant	NM_032172.3(USP42):c.3526A>G (p.Lys1176Glu)	not specified [RCV004188377]	uncertain significance	7	6155080	6155080	Human		name
156283250	CV2334654	single nucleotide variant	NM_032172.3(USP42):c.3038C>T (p.Ser1013Phe)	not specified [RCV004188639]	uncertain significance	7	6154592	6154592	Human		name
156065096	CV2346452	single nucleotide variant	NM_032172.3(USP42):c.3316G>A (p.Ala1106Thr)	not specified [RCV004206378]	uncertain significance	7	6154870	6154870	Human		name
156065448	CV2346520	single nucleotide variant	NM_032172.3(USP42):c.3448C>G (p.Arg1150Gly)	not specified [RCV004206440]	uncertain significance	7	6155002	6155002	Human		name
156002328	CV2347671	single nucleotide variant	NM_032172.3(USP42):c.3895C>G (p.Arg1299Gly)	not specified [RCV004200603]	uncertain significance	7	6157007	6157007	Human		name
156071131	CV2353089	single nucleotide variant	NM_032172.3(USP42):c.3492C>G (p.His1164Gln)	not specified [RCV004203571]	uncertain significance	7	6155046	6155046	Human		name
156052244	CV2363374	single nucleotide variant	NM_032172.3(USP42):c.3811C>T (p.Arg1271Trp)	not specified [RCV004213912]	uncertain significance	7	6156923	6156923	Human		name
156101156	CV2367620	single nucleotide variant	NM_032172.3(USP42):c.3390C>G (p.Asp1130Glu)	not specified [RCV004211545]	likely benign	7	6154944	6154944	Human		name
156161851	CV2371556	single nucleotide variant	NM_001286554.2(USP49):c.154G>A (p.Asp52Asn)	not specified [RCV004216805]	uncertain significance	6	41806830	41806830	Human		name
156347403	CV2382890	single nucleotide variant	NM_032172.3(USP42):c.3383A>C (p.His1128Pro)	not specified [RCV004217488]	uncertain significance	7	6154937	6154937	Human		name
156091264	CV2384657	single nucleotide variant	NM_032172.3(USP42):c.3143A>T (p.Lys1048Met)	not specified [RCV004232435]	uncertain significance	7	6154697	6154697	Human		name
156109711	CV2390402	single nucleotide variant	NM_032172.3(USP42):c.3271C>T (p.Arg1091Trp)	not specified [RCV004234102]	uncertain significance	7	6154825	6154825	Human		name
329377112	CV2435813	single nucleotide variant	NM_153210.5(USP43):c.3004G>A (p.Val1002Met)	not specified [RCV004253434]	uncertain significance	17	9728622	9728622	Human		name
329392153	CV2441271	single nucleotide variant	NM_032172.3(USP42):c.3518A>G (p.His1173Arg)	not specified [RCV004264002]	uncertain significance	7	6155072	6155072	Human		name
329357253	CV2453502	single nucleotide variant	NM_032172.3(USP42):c.3465A>C (p.Glu1155Asp)	not specified [RCV004269192]	uncertain significance	7	6155019	6155019	Human		name
329362888	CV2464821	single nucleotide variant	NM_032172.3(USP42):c.3285C>G (p.Asp1095Glu)	not specified [RCV004284770]	uncertain significance	7	6154839	6154839	Human		name
329392879	CV2469031	single nucleotide variant	NM_032172.3(USP42):c.3376G>T (p.Ala1126Ser)	not specified [RCV004274279]	uncertain significance	7	6154930	6154930	Human		name
401735740	CV2692187	single nucleotide variant	NM_153210.5(USP43):c.3056A>G (p.Gln1019Arg)	not specified [RCV004301885]	uncertain significance	17	9728674	9728674	Human		name
401731653	CV2693924	single nucleotide variant	NM_032172.3(USP42):c.3802G>A (p.Ala1268Thr)	not specified [RCV004300222]	uncertain significance	7	6156914	6156914	Human		name
401735559	CV2702808	single nucleotide variant	NM_032172.3(USP42):c.3242G>T (p.Arg1081Leu)	not specified [RCV004319371]	uncertain significance	7	6154796	6154796	Human		name
401722394	CV2706500	single nucleotide variant	NM_032172.3(USP42):c.3493G>A (p.Asp1165Asn)	not specified [RCV004317314]	uncertain significance	7	6155047	6155047	Human		name
401774510	CV2713520	single nucleotide variant	NM_032172.3(USP42):c.3873C>G (p.Phe1291Leu)	not specified [RCV004319118]	uncertain significance	7	6156985	6156985	Human		name
401783055	CV2716108	single nucleotide variant	NM_032172.3(USP42):c.3568C>G (p.Pro1190Ala)	not specified [RCV004323351]	uncertain significance	7	6155122	6155122	Human		name
401760132	CV2718725	single nucleotide variant	NM_032172.3(USP42):c.3415C>G (p.Leu1139Val)	not specified [RCV004328481]	uncertain significance	7	6154969	6154969	Human		name
401762070	CV2722627	single nucleotide variant	NM_032172.3(USP42):c.3353G>A (p.Arg1118His)	not specified [RCV004325084]	uncertain significance	7	6154907	6154907	Human		name
401752057	CV2723103	single nucleotide variant	NM_032172.3(USP42):c.3511G>C (p.Asp1171His)	not specified [RCV004327574]	uncertain significance	7	6155065	6155065	Human		name
401751472	CV2727006	single nucleotide variant	NM_032172.3(USP42):c.3065C>T (p.Ser1022Phe)	not specified [RCV004325388]	uncertain significance	7	6154619	6154619	Human		name
401893149	CV2755883	single nucleotide variant	NM_032172.3(USP42):c.3142A>G (p.Lys1048Glu)	not specified [RCV004335976]	uncertain significance	7	6154696	6154696	Human		name
401889473	CV2756612	single nucleotide variant	NM_001282659.2(USP47):c.283G>A (p.Ala95Thr)	not specified [RCV004345134]	uncertain significance	11	11884506	11884506	Human		name
401882486	CV2767969	single nucleotide variant	NM_032172.3(USP42):c.3178C>G (p.Arg1060Gly)	not specified [RCV004348216]	uncertain significance	7	6154732	6154732	Human		name
401887227	CV2773249	single nucleotide variant	NM_001365479.2(USP40):c.124G>A (p.Gly42Arg)	not specified [RCV004353922]	uncertain significance	2	233565431	233565431	Human		name
401880350	CV2780048	single nucleotide variant	NM_001365479.2(USP40):c.163C>T (p.Leu55Phe)	not specified [RCV004355716]	uncertain significance	2	233565392	233565392	Human		name
401885406	CV2783286	single nucleotide variant	NM_032172.3(USP42):c.3326G>C (p.Arg1109Thr)	not specified [RCV004363894]	uncertain significance	7	6154880	6154880	Human		name
401867405	CV2792536	single nucleotide variant	NM_001286554.2(USP49):c.288A>C (p.Arg96Ser)	not specified [RCV004363576]	uncertain significance	6	41806696	41806696	Human		name
405800944	CV3338242	single nucleotide variant	NM_001365479.2(USP40):c.233G>A (p.Gly78Asp)	not specified [RCV004477441]	uncertain significance	2	233562770	233562770	Human		name
405800799	CV3338285	single nucleotide variant	NM_032172.3(USP42):c.2998C>T (p.Pro1000Ser)	not specified [RCV004477484]	uncertain significance	7	6154552	6154552	Human		name
405800800	CV3338286	single nucleotide variant	NM_032172.3(USP42):c.3070C>T (p.His1024Tyr)	not specified [RCV004477485]	uncertain significance	7	6154624	6154624	Human		name
405800802	CV3338287	single nucleotide variant	NM_032172.3(USP42):c.3199G>A (p.Ala1067Thr)	not specified [RCV004477486]	uncertain significance	7	6154753	6154753	Human		name
405800804	CV3338288	single nucleotide variant	NM_032172.3(USP42):c.3208G>A (p.Ala1070Thr)	not specified [RCV004477487]	likely benign	7	6154762	6154762	Human		name
405800806	CV3338289	single nucleotide variant	NM_032172.3(USP42):c.3226C>G (p.Pro1076Ala)	not specified [RCV004477488]	uncertain significance	7	6154780	6154780	Human		name
405800808	CV3338290	single nucleotide variant	NM_032172.3(USP42):c.3278A>C (p.His1093Pro)	not specified [RCV004477489]	uncertain significance	7	6154832	6154832	Human		name
405800810	CV3338291	single nucleotide variant	NM_032172.3(USP42):c.3344G>C (p.Ser1115Thr)	not specified [RCV004477490]	uncertain significance	7	6154898	6154898	Human		name
405800812	CV3338292	single nucleotide variant	NM_032172.3(USP42):c.3355G>A (p.Ala1119Thr)	not specified [RCV004477491]	uncertain significance	7	6154909	6154909	Human		name
405800816	CV3338294	single nucleotide variant	NM_032172.3(USP42):c.3422C>T (p.Ala1141Val)	not specified [RCV004477493]	uncertain significance	7	6154976	6154976	Human		name
405800820	CV3338296	single nucleotide variant	NM_032172.3(USP42):c.3796A>G (p.Thr1266Ala)	not specified [RCV004477495]	uncertain significance	7	6156908	6156908	Human		name
405800822	CV3338297	single nucleotide variant	NM_032172.3(USP42):c.3862G>A (p.Val1288Ile)	not specified [RCV004477496]	uncertain significance	7	6156974	6156974	Human		name
405800824	CV3338298	single nucleotide variant	NM_032172.3(USP42):c.3922C>T (p.Arg1308Cys)	not specified [RCV004477497]	uncertain significance	7	6157034	6157034	Human		name
405800861	CV3338317	single nucleotide variant	NM_153210.5(USP43):c.3097G>T (p.Ala1033Ser)	not specified [RCV004477516]	uncertain significance	17	9728715	9728715	Human		name
405800863	CV3338318	single nucleotide variant	NM_153210.5(USP43):c.3220C>T (p.Arg1074Cys)	not specified [RCV004477517]	uncertain significance	17	9728838	9728838	Human		name
405800865	CV3338319	single nucleotide variant	NM_153210.5(USP43):c.3341G>A (p.Arg1114Gln)	not specified [RCV004477518]	uncertain significance	17	9728959	9728959	Human		name
405800984	CV3338358	single nucleotide variant	NM_001282659.2(USP47):c.286A>C (p.Asn96His)	not specified [RCV004477557]	uncertain significance	11	11884509	11884509	Human		name
407528851	CV3487630	single nucleotide variant	NM_001365479.2(USP40):c.259G>A (p.Asp87Asn)	not specified [RCV004680599]	uncertain significance	2	233562744	233562744	Human		name
407464626	CV3487639	single nucleotide variant	NM_001365479.2(USP40):c.228G>T (p.Glu76Asp)	not specified [RCV004688554]	uncertain significance	2	233562775	233562775	Human		name
407528882	CV3487646	single nucleotide variant	NM_032172.3(USP42):c.3404A>G (p.Asp1135Gly)	not specified [RCV004680614]	uncertain significance	7	6154958	6154958	Human		name
407528885	CV3487647	single nucleotide variant	NM_032172.3(USP42):c.3152C>G (p.Pro1051Arg)	not specified [RCV004680615]	uncertain significance	7	6154706	6154706	Human		name
407528896	CV3487653	single nucleotide variant	NM_032172.3(USP42):c.3510T>G (p.Ser1170Arg)	not specified [RCV004680621]	uncertain significance	7	6155064	6155064	Human		name
407528904	CV3487657	single nucleotide variant	NM_032172.3(USP42):c.3299G>A (p.Arg1100His)	not specified [RCV004680625]	uncertain significance	7	6154853	6154853	Human		name
407528918	CV3487664	single nucleotide variant	NM_032172.3(USP42):c.3346A>G (p.Ser1116Gly)	not specified [RCV004680632]	uncertain significance	7	6154900	6154900	Human		name
407528920	CV3487665	single nucleotide variant	NM_032172.3(USP42):c.3319C>T (p.Arg1107Trp)	not specified [RCV004680633]	uncertain significance	7	6154873	6154873	Human		name
597724099	CV3623066	single nucleotide variant	NM_001365479.2(USP40):c.295C>T (p.Arg99Cys)	not specified [RCV004888140]	uncertain significance	2	233559897	233559897	Human		name
597798968	CV3623079	single nucleotide variant	NM_001365479.2(USP40):c.215T>C (p.Leu72Pro)	not specified [RCV004879445]	uncertain significance	2	233562788	233562788	Human		name
597798973	CV3623083	single nucleotide variant	NM_032172.3(USP42):c.3536G>A (p.Arg1179Gln)	not specified [RCV004879447]	likely benign	7	6155090	6155090	Human		name
597798984	CV3623089	single nucleotide variant	NM_032172.3(USP42):c.3377C>A (p.Ala1126Asp)	not specified [RCV004879452]	uncertain significance	7	6154931	6154931	Human		name
597798990	CV3623092	single nucleotide variant	NM_032172.3(USP42):c.3181T>C (p.Tyr1061His)	not specified [RCV004879455]	uncertain significance	7	6154735	6154735	Human		name
597798992	CV3623093	single nucleotide variant	NM_032172.3(USP42):c.3249C>G (p.His1083Gln)	not specified [RCV004879456]	uncertain significance	7	6154803	6154803	Human		name
597799001	CV3623097	single nucleotide variant	NM_032172.3(USP42):c.3272G>A (p.Arg1091Gln)	not specified [RCV004879460]	uncertain significance	7	6154826	6154826	Human		name
597799003	CV3623098	single nucleotide variant	NM_032172.3(USP42):c.3374T>G (p.Leu1125Arg)	not specified [RCV004879461]	uncertain significance	7	6154928	6154928	Human		name
597724159	CV3623103	single nucleotide variant	NM_032172.3(USP42):c.3694A>G (p.Arg1232Gly)	not specified [RCV004888146]	uncertain significance	7	6156806	6156806	Human		name
597724184	CV3623108	single nucleotide variant	NM_032172.3(USP42):c.3127G>C (p.Gly1043Arg)	not specified [RCV004888148]	uncertain significance	7	6154681	6154681	Human		name
597724196	CV3623112	single nucleotide variant	NM_032172.3(USP42):c.3560T>C (p.Leu1187Pro)	not specified [RCV004888149]	uncertain significance	7	6155114	6155114	Human		name
597724206	CV3623113	single nucleotide variant	NM_032172.3(USP42):c.3295G>A (p.Gly1099Ser)	not specified [RCV004888150]	likely benign	7	6154849	6154849	Human		name
597696645	CV3623118	single nucleotide variant	NM_032172.3(USP42):c.3073C>G (p.Arg1025Gly)	not specified [RCV004885178]	uncertain significance	7	6154627	6154627	Human		name
597696653	CV3623121	single nucleotide variant	NM_153210.5(USP43):c.3178G>A (p.Glu1060Lys)	not specified [RCV004885179]	uncertain significance	17	9728796	9728796	Human		name
597799211	CV3623132	single nucleotide variant	NM_153210.5(USP43):c.3139A>T (p.Ile1047Phe)	not specified [RCV004879481]	uncertain significance	17	9728757	9728757	Human		name
597799053	CV3623171	single nucleotide variant	NM_001346022.3(USP45):c.1578C>T (p.Ser526=)	not specified [RCV004879509]	likely benign	6	99446194	99446194	Human		name
598275318	CV3932866	single nucleotide variant	NM_032172.3(USP42):c.3865G>A (p.Gly1289Arg)	not specified [RCV005304452]	uncertain significance	7	6156977	6156977	Human		name
598204341	CV3932869	single nucleotide variant	NM_032172.3(USP42):c.3506A>G (p.Asn1169Ser)	not specified [RCV005290676]	uncertain significance	7	6155060	6155060	Human		name
598238694	CV3932871	single nucleotide variant	NM_032172.3(USP42):c.3557C>T (p.Pro1186Leu)	not specified [RCV005296457]	uncertain significance	7	6155111	6155111	Human		name
598238713	CV3932875	single nucleotide variant	NM_032172.3(USP42):c.3722A>G (p.Lys1241Arg)	not specified [RCV005296461]	uncertain significance	7	6156834	6156834	Human		name
598204347	CV3932876	single nucleotide variant	NM_032172.3(USP42):c.3299G>T (p.Arg1100Leu)	not specified [RCV005290677]	uncertain significance	7	6154853	6154853	Human		name
598238718	CV3932877	single nucleotide variant	NM_032172.3(USP42):c.3013A>T (p.Arg1005Trp)	not specified [RCV005296462]	uncertain significance	7	6154567	6154567	Human		name
598204353	CV3932878	single nucleotide variant	NM_032172.3(USP42):c.3263T>C (p.Leu1088Pro)	not specified [RCV005290678]	uncertain significance	7	6154817	6154817	Human		name
598204360	CV3932879	single nucleotide variant	NM_032172.3(USP42):c.3752T>A (p.Val1251Asp)	not specified [RCV005290679]	uncertain significance	7	6156864	6156864	Human		name
598204382	CV3932886	single nucleotide variant	NM_032172.3(USP42):c.3309C>G (p.Cys1103Trp)	not specified [RCV005290682]	uncertain significance	7	6154863	6154863	Human		name
598204396	CV3932888	single nucleotide variant	NM_032172.3(USP42):c.3200C>T (p.Ala1067Val)	not specified [RCV005290684]	uncertain significance	7	6154754	6154754	Human		name
598204404	CV3932889	single nucleotide variant	NM_032172.3(USP42):c.3548A>G (p.Gln1183Arg)	not specified [RCV005290685]	uncertain significance	7	6155102	6155102	Human		name
598238751	CV3932891	single nucleotide variant	NM_032172.3(USP42):c.3164G>C (p.Arg1055Pro)	not specified [RCV005296468]	uncertain significance	7	6154718	6154718	Human		name
598204417	CV3932893	single nucleotide variant	NM_032172.3(USP42):c.3788G>A (p.Ser1263Asn)	not specified [RCV005290687]	uncertain significance	7	6156900	6156900	Human		name
598204422	CV3932894	single nucleotide variant	NM_032172.3(USP42):c.3298C>G (p.Arg1100Gly)	not specified [RCV005290688]	uncertain significance	7	6154852	6154852	Human		name
598204428	CV3932895	single nucleotide variant	NM_032172.3(USP42):c.3857A>C (p.Glu1286Ala)	not specified [RCV005290689]	uncertain significance	7	6156969	6156969	Human		name
598238763	CV3932897	single nucleotide variant	NM_032172.3(USP42):c.3617A>G (p.Asp1206Gly)	not specified [RCV005296470]	uncertain significance	7	6155171	6155171	Human		name
598204434	CV3932899	single nucleotide variant	NM_032172.3(USP42):c.3349C>T (p.Pro1117Ser)	not specified [RCV005290690]	uncertain significance	7	6154903	6154903	Human		name
598204480	CV3932908	single nucleotide variant	NM_153210.5(USP43):c.3106G>C (p.Gly1036Arg)	not specified [RCV005290698]	uncertain significance	17	9728724	9728724	Human		name
598204492	CV3932914	single nucleotide variant	NM_001346022.3(USP45):c.115C>A (p.Gln39Lys)	not specified [RCV005290700]	uncertain significance	6	99508768	99508768	Human		name
14350074	CV590862	single nucleotide variant	NM_001346022.3(USP45):c.178T>G (p.Ser60Ala)	Short stature [RCV000736195]	likely pathogenic	6	99508705	99508705	Human	2	name
15177296	CV710649	single nucleotide variant	NM_001346022.3(USP45):c.1818C>T (p.Thr606=)	not provided [RCV000973390]	benign	6	99445954	99445954	Human		name
15152575	CV727626	single nucleotide variant	NM_153210.5(USP43):c.3059T>C (p.Val1020Ala)	not provided [RCV000879835]	benign	17	9728677	9728677	Human		name
15120201	CV750282	single nucleotide variant	NM_001346022.3(USP45):c.1872C>T (p.Leu624=)	not provided [RCV000918280]	benign	6	99445900	99445900	Human		name
8579955	CV114357	single nucleotide variant	NM_001134223.1(USP46):c.560A>T (p.Asp187Val)	Lung cancer [RCV000094880]	uncertain significance	4	52610598	52610598	Human		name
151354723	CV1327790	single nucleotide variant	NM_001346022.3(USP45):c.625G>A (p.Ala209Thr)	not specified [RCV001819265]	likely benign	6	99488289	99488289	Human		name
151356450	CV1329214	single nucleotide variant	NM_001346022.3(USP45):c.562T>G (p.Ser188Ala)	not specified [RCV001822803]	uncertain significance	6	99488737	99488737	Human		name
156141788	CV2199968	single nucleotide variant	NM_001286554.2(USP49):c.322G>A (p.Asp108Asn)	not specified [RCV004074138]	uncertain significance	6	41806662	41806662	Human		name
156073645	CV2201418	single nucleotide variant	NM_001286554.2(USP49):c.544A>G (p.Lys182Glu)	not specified [RCV004077533]	uncertain significance	6	41806440	41806440	Human		name
155925846	CV2208052	single nucleotide variant	NM_001346022.3(USP45):c.403T>A (p.Ser135Thr)	not specified [RCV004086746]	uncertain significance	6	99503840	99503840	Human		name
156137511	CV2210472	single nucleotide variant	NM_001286554.2(USP49):c.557G>C (p.Arg186Pro)	not specified [RCV004089605]	uncertain significance	6	41806427	41806427	Human		name
156340016	CV2229388	single nucleotide variant	NM_001346022.3(USP45):c.703G>A (p.Asp235Asn)	not specified [RCV004101168]	uncertain significance	6	99488211	99488211	Human		name
156024831	CV2242170	single nucleotide variant	NM_001286554.2(USP49):c.935C>T (p.Ala312Val)	not specified [RCV004109383]	uncertain significance	6	41806049	41806049	Human		name
156304736	CV2252531	single nucleotide variant	NM_001286554.2(USP49):c.422C>A (p.Thr141Lys)	not specified [RCV004118425]	uncertain significance	6	41806562	41806562	Human		name
156303757	CV2258908	single nucleotide variant	NM_001286554.2(USP49):c.683C>A (p.Ala228Asp)	not specified [RCV004118111]	uncertain significance	6	41806301	41806301	Human		name
155968425	CV2261997	single nucleotide variant	NM_001346022.3(USP45):c.613A>G (p.Met205Val)	not specified [RCV004126484]	uncertain significance	6	99488686	99488686	Human		name
155914945	CV2264781	single nucleotide variant	NM_001346022.3(USP45):c.853C>G (p.Arg285Gly)	not specified [RCV004132756]	uncertain significance	6	99476223	99476223	Human		name
156135319	CV2284727	single nucleotide variant	NM_001286554.2(USP49):c.551A>C (p.Glu184Ala)	not specified [RCV004140874]	likely benign	6	41806433	41806433	Human		name
156193100	CV2296928	single nucleotide variant	NM_001282659.2(USP47):c.439A>G (p.Ser147Gly)	not specified [RCV004149076]	uncertain significance	11	11892049	11892049	Human		name
156299065	CV2310688	single nucleotide variant	NM_001286554.2(USP49):c.957T>G (p.Asn319Lys)	not specified [RCV004157344]	uncertain significance	6	41806027	41806027	Human		name
156180988	CV2327783	single nucleotide variant	NM_001282659.2(USP47):c.394A>G (p.Arg132Gly)	not specified [RCV004179128]	uncertain significance	11	11892004	11892004	Human		name
156051656	CV2328969	single nucleotide variant	NM_001346022.3(USP45):c.496A>G (p.Met166Val)	not specified [RCV004180264]	uncertain significance	6	99488803	99488803	Human		name
156176735	CV2331188	single nucleotide variant	NM_001365479.2(USP40):c.824C>T (p.Pro275Leu)	not specified [RCV004181792]	uncertain significance	2	233551389	233551389	Human		name
156182154	CV2338177	single nucleotide variant	NM_001286554.2(USP49):c.986G>T (p.Gly329Val)	not specified [RCV004186249]	uncertain significance	6	41805998	41805998	Human		name
156012827	CV2358966	single nucleotide variant	NM_001286554.2(USP49):c.337C>A (p.Arg113Ser)	not specified [RCV004212296]	uncertain significance	6	41806647	41806647	Human		name
155910844	CV2366685	single nucleotide variant	NM_001365479.2(USP40):c.538G>A (p.Glu180Lys)	not specified [RCV004210689]	uncertain significance	2	233556863	233556863	Human		name
156387376	CV2372727	single nucleotide variant	NM_001365479.2(USP40):c.560A>G (p.Asp187Gly)	not specified [RCV004221918]	uncertain significance	2	233554513	233554513	Human		name
156347146	CV2382853	single nucleotide variant	NM_001365479.2(USP40):c.907G>A (p.Gly303Arg)	not specified [RCV004217457]	uncertain significance	2	233549160	233549160	Human		name
156220025	CV2393666	single nucleotide variant	NM_001365479.2(USP40):c.887T>C (p.Ile296Thr)	not specified [RCV004231474]	uncertain significance	2	233549180	233549180	Human		name
329367043	CV2442060	single nucleotide variant	NM_001286554.2(USP49):c.662C>T (p.Pro221Leu)	not specified [RCV004262215]	uncertain significance	6	41806322	41806322	Human		name
329397500	CV2456239	single nucleotide variant	NM_001346022.3(USP45):c.703G>C (p.Asp235His)	not specified [RCV004275421]	uncertain significance	6	99488211	99488211	Human		name
329401380	CV2460809	single nucleotide variant	NM_001346022.3(USP45):c.391G>A (p.Asp131Asn)	not specified [RCV004271128]	uncertain significance	6	99503852	99503852	Human		name
401751408	CV2672441	single nucleotide variant	NM_001286554.2(USP49):c.583C>G (p.Arg195Gly)	not specified [RCV004285695]	uncertain significance	6	41806401	41806401	Human		name
401735972	CV2692243	single nucleotide variant	NM_001286554.2(USP49):c.703G>C (p.Val235Leu)	not specified [RCV004303720]	uncertain significance	6	41806281	41806281	Human		name
401718293	CV2700299	single nucleotide variant	NM_001365479.2(USP40):c.589G>A (p.Gly197Ser)	not specified [RCV004310961]	uncertain significance	2	233554484	233554484	Human		name
401783152	CV2716153	single nucleotide variant	NM_001286554.2(USP49):c.461C>T (p.Thr154Met)	not specified [RCV004323389]	uncertain significance	6	41806523	41806523	Human		name
401760452	CV2718845	single nucleotide variant	NM_001346022.3(USP45):c.439G>A (p.Val147Ile)	not specified [RCV004328586]	uncertain significance	6	99503804	99503804	Human		name
401877652	CV2761248	single nucleotide variant	NM_001282659.2(USP47):c.712A>G (p.Arg238Gly)	not specified [RCV004341125]	uncertain significance	11	11902833	11902833	Human		name
401883693	CV2764478	single nucleotide variant	NM_001365479.2(USP40):c.959A>C (p.Gln320Pro)	not specified [RCV004339043]	uncertain significance	2	233549108	233549108	Human		name
401856724	CV2764905	single nucleotide variant	NM_001365479.2(USP40):c.416G>A (p.Arg139Gln)	not specified [RCV004334997]	uncertain significance	2	233556985	233556985	Human		name
401867882	CV2767103	single nucleotide variant	NM_001365479.2(USP40):c.960G>C (p.Gln320His)	not specified [RCV004347504]	uncertain significance	2	233549107	233549107	Human		name
401876477	CV2767602	single nucleotide variant	NM_001282659.2(USP47):c.691A>G (p.Ile231Val)	not specified [RCV004343747]	uncertain significance	11	11902812	11902812	Human		name
401887746	CV2772142	single nucleotide variant	NM_001365479.2(USP40):c.586T>A (p.Ser196Thr)	not specified [RCV004344793]	uncertain significance	2	233554487	233554487	Human		name
401893827	CV2777733	single nucleotide variant	NM_001365479.2(USP40):c.532G>A (p.Val178Ile)	not specified [RCV004345568]	likely benign	2	233556869	233556869	Human		name
405800734	CV3338251	single nucleotide variant	NM_001365479.2(USP40):c.353C>T (p.Thr118Ile)	not specified [RCV004477450]	uncertain significance	2	233559839	233559839	Human		name
405800738	CV3338253	single nucleotide variant	NM_001365479.2(USP40):c.476A>G (p.Tyr159Cys)	not specified [RCV004477452]	uncertain significance	2	233556925	233556925	Human		name
405800740	CV3338254	single nucleotide variant	NM_001365479.2(USP40):c.479G>A (p.Arg160His)	not specified [RCV004477453]	uncertain significance	2	233556922	233556922	Human		name
405800742	CV3338255	single nucleotide variant	NM_001365479.2(USP40):c.760G>T (p.Val254Leu)	not specified [RCV004477454]	uncertain significance	2	233551453	233551453	Human		name
405800904	CV3338340	single nucleotide variant	NM_001346022.3(USP45):c.424G>A (p.Val142Ile)	not specified [RCV004477539]	uncertain significance	6	99503819	99503819	Human		name
405800906	CV3338341	single nucleotide variant	NM_001346022.3(USP45):c.983C>T (p.Thr328Ile)	not specified [RCV004477540]	uncertain significance	6	99468569	99468569	Human		name
405800917	CV3338347	single nucleotide variant	NM_001282659.2(USP47):c.448G>A (p.Val150Ile)	not specified [RCV004477546]	uncertain significance	11	11892058	11892058	Human		name
405801006	CV3338370	single nucleotide variant	NM_001286554.2(USP49):c.376G>A (p.Val126Met)	not specified [RCV004477569]	uncertain significance	6	41806608	41806608	Human		name
405801008	CV3338371	single nucleotide variant	NM_001286554.2(USP49):c.514C>T (p.Arg172Trp)	not specified [RCV004477570]	uncertain significance	6	41806470	41806470	Human		name
405801010	CV3338372	single nucleotide variant	NM_001286554.2(USP49):c.715A>C (p.Thr239Pro)	not specified [RCV004477571]	uncertain significance	6	41806269	41806269	Human		name
405801012	CV3338373	single nucleotide variant	NM_001286554.2(USP49):c.716C>G (p.Thr239Arg)	not specified [RCV004477572]	uncertain significance	6	41806268	41806268	Human		name
405801013	CV3338374	single nucleotide variant	NM_001286554.2(USP49):c.731G>T (p.Arg244Leu)	not specified [RCV004477573]	uncertain significance	6	41806253	41806253	Human		name
405801017	CV3338376	single nucleotide variant	NM_001286554.2(USP49):c.994T>C (p.Trp332Arg)	not specified [RCV004477575]	uncertain significance	6	41805990	41805990	Human		name
596939628	CV3407936	single nucleotide variant	NM_001346022.3(USP45):c.658G>T (p.Glu220Ter)	Leber congenital amaurosis 19 [RCV005392824]\|Retinal dystrophy [RCV004814396]	uncertain significance	6	99488256	99488256	Human	3	name
596939648	CV3407989	single nucleotide variant	NM_001346022.3(USP45):c.597C>G (p.Cys199Trp)	Retinal dystrophy [RCV004814449]	uncertain significance	6	99488702	99488702	Human	2	name
596941564	CV3408193	single nucleotide variant	NM_001346022.3(USP45):c.341A>G (p.His114Arg)	Retinal dystrophy [RCV004815864]	uncertain significance	6	99507464	99507464	Human	2	name
407528878	CV3487644	single nucleotide variant	NM_001365479.2(USP40):c.782A>T (p.Glu261Val)	not specified [RCV004680612]	uncertain significance	2	233551431	233551431	Human		name
407528946	CV3487679	single nucleotide variant	NM_001346022.3(USP45):c.863A>G (p.Asp288Gly)	not specified [RCV004680645]	likely benign	6	99476213	99476213	Human		name
407528948	CV3487681	single nucleotide variant	NM_001346022.3(USP45):c.496A>T (p.Met166Leu)	not specified [RCV004680646]	uncertain significance	6	99488803	99488803	Human		name
407529070	CV3487694	single nucleotide variant	NM_001286554.2(USP49):c.928A>G (p.Ser310Gly)	not specified [RCV004680657]	uncertain significance	6	41806056	41806056	Human		name
407464650	CV3487695	single nucleotide variant	NM_001286554.2(USP49):c.320A>G (p.Gln107Arg)	not specified [RCV004688560]	uncertain significance	6	41806664	41806664	Human		name
597696732	CV3623159	single nucleotide variant	NM_001346022.3(USP45):c.737C>T (p.Ser246Leu)	not specified [RCV004885189]	uncertain significance	6	99482861	99482861	Human		name
597696763	CV3623174	single nucleotide variant	NM_001346022.3(USP45):c.473A>C (p.Gln158Pro)	not specified [RCV004885193]	uncertain significance	6	99503770	99503770	Human		name
597799088	CV3623201	single nucleotide variant	NM_001286554.2(USP49):c.338G>T (p.Arg113Leu)	not specified [RCV004879526]	uncertain significance	6	41806646	41806646	Human		name
598204883	CV3896744	deletion	NM_001346022.3(USP45):c.1130del (p.Phe377fs)	Leber congenital amaurosis [RCV005356930]	uncertain significance	6	99465114	99465114	Human	1	name
598275309	CV3932851	single nucleotide variant	NM_001365479.2(USP40):c.970G>A (p.Glu324Lys)	not specified [RCV005304443]	uncertain significance	2	233542360	233542360	Human		name
598238804	CV3932916	single nucleotide variant	NM_001346022.3(USP45):c.404C>T (p.Ser135Leu)	not specified [RCV005296477]	uncertain significance	6	99503839	99503839	Human		name
598238809	CV3932917	single nucleotide variant	NM_001346022.3(USP45):c.742C>T (p.Pro248Ser)	not specified [RCV005296478]	uncertain significance	6	99482856	99482856	Human		name
598204504	CV3932918	single nucleotide variant	NM_001346022.3(USP45):c.775C>G (p.Leu259Val)	not specified [RCV005290702]	uncertain significance	6	99482823	99482823	Human		name
598238814	CV3932919	single nucleotide variant	NM_001346022.3(USP45):c.630G>T (p.Gln210His)	not specified [RCV005296479]	uncertain significance	6	99488284	99488284	Human		name
598204538	CV3932934	single nucleotide variant	NM_001286554.2(USP49):c.521A>G (p.Gln174Arg)	not specified [RCV005290708]	likely benign	6	41806463	41806463	Human		name
598238874	CV3932935	single nucleotide variant	NM_001286554.2(USP49):c.326C>T (p.Thr109Met)	not specified [RCV005296489]	uncertain significance	6	41806658	41806658	Human		name
598238885	CV3932937	single nucleotide variant	NM_001286554.2(USP49):c.938C>T (p.Thr313Met)	not specified [RCV005296491]	uncertain significance	6	41806046	41806046	Human		name
598238891	CV3932938	single nucleotide variant	NM_001286554.2(USP49):c.365C>T (p.Ser122Leu)	not specified [RCV005296492]	uncertain significance	6	41806619	41806619	Human		name
598204544	CV3932940	single nucleotide variant	NM_001286554.2(USP49):c.722A>G (p.Lys241Arg)	not specified [RCV005290709]	uncertain significance	6	41806262	41806262	Human		name
598238900	CV3932941	single nucleotide variant	NM_001286554.2(USP49):c.308G>A (p.Arg103Gln)	not specified [RCV005296494]	uncertain significance	6	41806676	41806676	Human		name
13442845	CV434616	deletion	NM_001346022.3(USP45):c.1008del (p.Val337fs)	Retinal disorders [RCV005400728]\|Retinal dystrophy [RCV004817738]\|not provided [RCV000509565]\|not specified [RCV001821425]	benign\|likely benign\|uncertain significance\|not provided	6	99468544	99468544	Human	3	name
14350071	CV590861	single nucleotide variant	NM_001346022.3(USP45):c.727G>A (p.Val243Met)	Short stature [RCV000736194]	likely pathogenic	6	99482871	99482871	Human	2	name
14698319	CV625913	single nucleotide variant	NM_001346022.3(USP45):c.935G>A (p.Arg312Gln)	Leber congenital amaurosis 19 [RCV000790538]	pathogenic	6	99468617	99468617	Human	1	name
15100769	CV699586	single nucleotide variant	NM_001286554.2(USP49):c.382C>A (p.Leu128Met)	not provided [RCV000958966]	benign	6	41806602	41806602	Human		name
15184039	CV737805	single nucleotide variant	NM_001282659.2(USP47):c.3330T>G (p.Leu1110=)	not provided [RCV000908189]	benign	11	11948540	11948540	Human		name
151355854	CV1327037	single nucleotide variant	NM_001346022.3(USP45):c.1253T>C (p.Ile418Thr)	not provided [RCV004707736]\|not specified [RCV001822207]	benign\|likely benign	6	99464659	99464659	Human		name
151355855	CV1327038	single nucleotide variant	NM_001346022.3(USP45):c.1196A>G (p.Asn399Ser)	not specified [RCV001822208]	uncertain significance	6	99464716	99464716	Human		name
151356379	CV1329143	single nucleotide variant	NM_001346022.3(USP45):c.2098A>C (p.Asn700His)	not specified [RCV001822732]	uncertain significance	6	99439831	99439831	Human		name
151354543	CV1329676	single nucleotide variant	NM_001346022.3(USP45):c.1794T>G (p.Tyr598Ter)	Retinal dystrophy [RCV004815644]\|not specified [RCV001818041]	uncertain significance	6	99445978	99445978	Human	2	name
152980794	CV1676129	single nucleotide variant	NM_001346022.3(USP45):c.2333A>G (p.Asn778Ser)	Leber congenital amaurosis 19 [RCV002245197]	benign	6	99435828	99435828	Human	1	name
152980797	CV1676131	single nucleotide variant	NM_001346022.3(USP45):c.1562G>C (p.Arg521Thr)	Leber congenital amaurosis 19 [RCV002245199]	benign	6	99446210	99446210	Human	1	name
155959141	CV2193757	single nucleotide variant	NM_001346022.3(USP45):c.2128G>A (p.Asp710Asn)	not specified [RCV004074519]	uncertain significance	6	99439801	99439801	Human		name
156324266	CV2198627	single nucleotide variant	NM_001282659.2(USP47):c.1291A>G (p.Ser431Gly)	not specified [RCV004075643]	uncertain significance	11	11922796	11922796	Human		name
156400351	CV2199129	single nucleotide variant	NM_001365479.2(USP40):c.1864G>T (p.Val622Leu)	not specified [RCV004080524]	uncertain significance	2	233524509	233524509	Human		name
156244540	CV2207296	single nucleotide variant	NM_001282659.2(USP47):c.1061G>A (p.Arg354Gln)	not specified [RCV004088010]	uncertain significance	11	11920247	11920247	Human		name
155982232	CV2208709	single nucleotide variant	NM_001282659.2(USP47):c.2150A>G (p.Tyr717Cys)	not specified [RCV004084900]	uncertain significance	11	11938329	11938329	Human		name
156376196	CV2210488	single nucleotide variant	NM_001365479.2(USP40):c.2441C>T (p.Pro814Leu)	not specified [RCV004089618]	uncertain significance	2	233511794	233511794	Human		name
156401283	CV2210810	single nucleotide variant	NM_001365479.2(USP40):c.2943A>C (p.Gln981His)	not specified [RCV004085902]	uncertain significance	2	233491236	233491236	Human		name
155977943	CV2214939	single nucleotide variant	NM_001365479.2(USP40):c.1012G>A (p.Glu338Lys)	not specified [RCV004084723]	uncertain significance	2	233542318	233542318	Human		name
156387173	CV2221428	single nucleotide variant	NM_001365479.2(USP40):c.1745G>T (p.Gly582Val)	not specified [RCV004096719]	uncertain significance	2	233525543	233525543	Human		name
156115376	CV2221429	single nucleotide variant	NM_001346022.3(USP45):c.1244A>G (p.Asn415Ser)	not specified [RCV004096720]	uncertain significance	6	99464668	99464668	Human		name
156021893	CV2226913	single nucleotide variant	NM_001346022.3(USP45):c.1067G>A (p.Gly356Asp)	not specified [RCV004103884]	uncertain significance	6	99466712	99466712	Human		name
156279014	CV2227718	single nucleotide variant	NM_001365479.2(USP40):c.2990C>T (p.Thr997Met)	not specified [RCV004094104]	uncertain significance	2	233491189	233491189	Human		name
155971364	CV2242905	single nucleotide variant	NM_001282659.2(USP47):c.1255G>A (p.Ala419Thr)	not specified [RCV004107494]	uncertain significance	11	11922760	11922760	Human		name
156276929	CV2255860	single nucleotide variant	NM_001346022.3(USP45):c.1237A>G (p.Ser413Gly)	not specified [RCV004122018]	uncertain significance	6	99464675	99464675	Human		name
156356794	CV2257550	single nucleotide variant	NM_001365479.2(USP40):c.1204A>G (p.Ser402Gly)	not specified [RCV004125601]	uncertain significance	2	233533746	233533746	Human		name
155998618	CV2260998	single nucleotide variant	NM_001282659.2(USP47):c.1859T>G (p.Met620Arg)	not specified [RCV004125875]	uncertain significance	11	11933925	11933925	Human		name
155969272	CV2262092	single nucleotide variant	NM_001282659.2(USP47):c.2164G>A (p.Val722Ile)	not specified [RCV004126558]	uncertain significance	11	11938343	11938343	Human		name
156241627	CV2265792	single nucleotide variant	NM_001346022.3(USP45):c.1753A>G (p.Asn585Asp)	not specified [RCV004126409]	uncertain significance	6	99446019	99446019	Human		name
156277466	CV2277038	single nucleotide variant	NM_001286554.2(USP49):c.1576T>C (p.Ser526Pro)	not specified [RCV004140358]	uncertain significance	6	41799924	41799924	Human		name
156258816	CV2277776	single nucleotide variant	NM_001282659.2(USP47):c.1189A>C (p.Met397Leu)	not specified [RCV004147208]	uncertain significance	11	11920465	11920465	Human		name
155903820	CV2282301	single nucleotide variant	NM_001286554.2(USP49):c.1121C>T (p.Ala374Val)	not specified [RCV004133132]	uncertain significance	6	41805863	41805863	Human		name
155963883	CV2282783	single nucleotide variant	NM_001346022.3(USP45):c.1754A>G (p.Asn585Ser)	not specified [RCV004141636]	uncertain significance	6	99446018	99446018	Human		name
155956920	CV2304090	single nucleotide variant	NM_001365479.2(USP40):c.1249C>G (p.Gln417Glu)	not specified [RCV004170132]	uncertain significance	2	233533701	233533701	Human		name
156267112	CV2305616	single nucleotide variant	NM_001286554.2(USP49):c.1012A>G (p.Ile338Val)	not specified [RCV004165631]	uncertain significance	6	41805972	41805972	Human		name
156149548	CV2307416	single nucleotide variant	NM_001286554.2(USP49):c.1530A>C (p.Glu510Asp)	not specified [RCV004166089]	uncertain significance	6	41803837	41803837	Human		name
156046983	CV2315651	single nucleotide variant	NM_001282659.2(USP47):c.1850C>T (p.Ala617Val)	not specified [RCV004169683]	uncertain significance	11	11933916	11933916	Human		name
156187834	CV2328457	single nucleotide variant	NM_001286554.2(USP49):c.1286C>G (p.Ser429Cys)	not specified [RCV004175842]	uncertain significance	6	41805698	41805698	Human		name
156125816	CV2350231	single nucleotide variant	NM_001365479.2(USP40):c.1226G>A (p.Arg409His)	not specified [RCV004202188]	uncertain significance	2	233533724	233533724	Human		name
156110192	CV2353240	single nucleotide variant	NM_001365479.2(USP40):c.1600C>G (p.Leu534Val)	not specified [RCV004203706]	uncertain significance	2	233527532	233527532	Human		name
156343411	CV2353457	single nucleotide variant	NM_001346022.3(USP45):c.1709G>A (p.Gly570Glu)	Leber congenital amaurosis 19 [RCV005399208]\|not specified [RCV004205912]	uncertain significance	6	99446063	99446063	Human	1	name
156175626	CV2355705	single nucleotide variant	NM_001282659.2(USP47):c.2023C>A (p.Leu675Met)	not specified [RCV004199067]	uncertain significance	11	11936456	11936456	Human		name
156004441	CV2357568	single nucleotide variant	NM_001346022.3(USP45):c.1499A>G (p.Asn500Ser)	not specified [RCV004202834]	likely benign	6	99446273	99446273	Human		name
156335684	CV2363153	single nucleotide variant	NM_001282659.2(USP47):c.1565G>A (p.Ser522Asn)	not specified [RCV004211275]	uncertain significance	11	11930090	11930090	Human		name
156251901	CV2368926	single nucleotide variant	NM_001346022.3(USP45):c.2437G>A (p.Val813Ile)	not specified [RCV004207879]	likely benign	6	99435724	99435724	Human		name
156304598	CV2369164	single nucleotide variant	NM_001365479.2(USP40):c.2735T>A (p.Leu912His)	not specified [RCV004208088]	uncertain significance	2	233496813	233496813	Human		name
155928695	CV2369545	single nucleotide variant	NM_001282659.2(USP47):c.2392C>T (p.His798Tyr)	not specified [RCV004214966]	uncertain significance	11	11942413	11942413	Human		name
156388807	CV2376091	single nucleotide variant	NM_001365479.2(USP40):c.2594A>C (p.Glu865Ala)	not specified [RCV004220327]	uncertain significance	2	233510068	233510068	Human		name
155939896	CV2378889	single nucleotide variant	NM_001282659.2(USP47):c.2501A>G (p.Asp834Gly)	not specified [RCV004231323]	uncertain significance	11	11942522	11942522	Human		name
155956965	CV2387381	single nucleotide variant	NM_001346022.3(USP45):c.1148C>T (p.Pro383Leu)	not specified [RCV004240250]	uncertain significance	6	99465096	99465096	Human		name
156156492	CV2393492	single nucleotide variant	NM_001282659.2(USP47):c.2199C>G (p.Ile733Met)	not specified [RCV004228981]	uncertain significance	11	11940434	11940434	Human		name
156224539	CV2395192	single nucleotide variant	NM_001282659.2(USP47):c.2657A>G (p.Glu886Gly)	not specified [RCV004236860]	uncertain significance	11	11942678	11942678	Human		name
243049623	CV2417016	single nucleotide variant	NM_001346022.3(USP45):c.1327C>T (p.Arg443Ter)	not specified [RCV003151688]	uncertain significance	6	99446445	99446445	Human		name
243049678	CV2417017	single nucleotide variant	NM_001346022.3(USP45):c.1548G>T (p.Gln516His)	not specified [RCV003151689]	uncertain significance	6	99446224	99446224	Human		name
329381918	CV2424265	single nucleotide variant	NM_001346022.3(USP45):c.2039C>T (p.Ala680Val)	Retinal dystrophy [RCV004818293]\|not specified [RCV004252176]	uncertain significance	6	99443599	99443599	Human	2	name
329375372	CV2439947	single nucleotide variant	NM_001282659.2(USP47):c.1442G>C (p.Gly481Ala)	not specified [RCV004260428]	uncertain significance	11	11929489	11929489	Human		name
329365695	CV2441004	single nucleotide variant	NM_001346022.3(USP45):c.1933A>T (p.Thr645Ser)	not specified [RCV004261377]	uncertain significance	6	99445839	99445839	Human		name
329374021	CV2447543	single nucleotide variant	NM_001346022.3(USP45):c.1687C>T (p.Arg563Cys)	not specified [RCV004255900]	uncertain significance	6	99446085	99446085	Human		name
329394540	CV2461402	single nucleotide variant	NM_001365479.2(USP40):c.2987C>T (p.Ala996Val)	not specified [RCV004267556]	uncertain significance	2	233491192	233491192	Human		name
329374517	CV2464135	single nucleotide variant	NM_001346022.3(USP45):c.1441C>T (p.Arg481Cys)	not specified [RCV004273826]	uncertain significance	6	99446331	99446331	Human		name
329382792	CV2465377	single nucleotide variant	NM_001286554.2(USP49):c.1759A>G (p.Met587Val)	not specified [RCV004281157]	uncertain significance	6	41798841	41798841	Human		name
329397955	CV2466480	single nucleotide variant	NM_001346022.3(USP45):c.2248T>C (p.Tyr750His)	not specified [RCV004274030]	uncertain significance	6	99437312	99437312	Human		name
329352926	CV2468028	single nucleotide variant	NM_001282659.2(USP47):c.2332G>A (p.Glu778Lys)	not specified [RCV004273647]	uncertain significance	11	11942353	11942353	Human		name
401774120	CV2691523	single nucleotide variant	NM_001365479.2(USP40):c.1523A>T (p.Asp508Val)	not specified [RCV004305362]	uncertain significance	2	233529461	233529461	Human		name
401760110	CV2694926	single nucleotide variant	NM_001365479.2(USP40):c.1663G>A (p.Val555Met)	not specified [RCV004301315]	likely benign	2	233527469	233527469	Human		name
401747191	CV2698807	single nucleotide variant	NM_001286554.2(USP49):c.1758C>A (p.Asp586Glu)	not specified [RCV004301252]	uncertain significance	6	41798842	41798842	Human		name
401732071	CV2712282	single nucleotide variant	NM_001365479.2(USP40):c.1120G>C (p.Gly374Arg)	not specified [RCV004313778]	uncertain significance	2	233540712	233540712	Human		name
401733288	CV2713038	single nucleotide variant	NM_001282659.2(USP47):c.1751G>A (p.Arg584His)	not specified [RCV004316598]	uncertain significance	11	11933103	11933103	Human		name
401768679	CV2716694	single nucleotide variant	NM_001365479.2(USP40):c.1223T>G (p.Val408Gly)	not specified [RCV004327745]	uncertain significance	2	233533727	233533727	Human		name
401778617	CV2732678	single nucleotide variant	NM_001346022.3(USP45):c.1964C>G (p.Thr655Ser)	not specified [RCV004332596]	uncertain significance	6	99445808	99445808	Human		name
401861323	CV2759508	single nucleotide variant	NM_001286554.2(USP49):c.1184A>G (p.Tyr395Cys)	not specified [RCV004338497]	uncertain significance	6	41805800	41805800	Human		name
401893829	CV2759862	single nucleotide variant	NM_001346022.3(USP45):c.1468A>G (p.Ser490Gly)	not specified [RCV004345295]	uncertain significance	6	99446304	99446304	Human		name
401856215	CV2761314	single nucleotide variant	NM_001282659.2(USP47):c.2482G>A (p.Asp828Asn)	not specified [RCV004341181]	uncertain significance	11	11942503	11942503	Human		name
401899942	CV2765752	single nucleotide variant	NM_001282659.2(USP47):c.2432A>G (p.Gln811Arg)	not specified [RCV004335755]	uncertain significance	11	11942453	11942453	Human		name
401896149	CV2773677	single nucleotide variant	NM_001346022.3(USP45):c.1823C>A (p.Ser608Tyr)	not specified [RCV004356363]	uncertain significance	6	99445949	99445949	Human		name
401874232	CV2773706	single nucleotide variant	NM_001346022.3(USP45):c.1465G>A (p.Asp489Asn)	not specified [RCV004356387]	uncertain significance	6	99446307	99446307	Human		name
401882707	CV2774808	single nucleotide variant	NM_001365479.2(USP40):c.2476A>T (p.Met826Leu)	not specified [RCV004343901]	uncertain significance	2	233511759	233511759	Human		name
401862489	CV2775328	single nucleotide variant	NM_001286554.2(USP49):c.1543G>A (p.Ala515Thr)	not specified [RCV004348439]	uncertain significance	6	41803824	41803824	Human		name
401891809	CV2780809	single nucleotide variant	NM_001365479.2(USP40):c.1061A>G (p.Glu354Gly)	not specified [RCV004352127]	uncertain significance	2	233542269	233542269	Human		name
401867410	CV2792535	single nucleotide variant	NM_001346022.3(USP45):c.2427C>A (p.Phe809Leu)	not specified [RCV004363575]	uncertain significance	6	99435734	99435734	Human		name
405800971	CV3338228	single nucleotide variant	NM_001365479.2(USP40):c.1274A>G (p.Asn425Ser)	not specified [RCV004477427]	uncertain significance	2	233533676	233533676	Human		name
405800969	CV3338229	single nucleotide variant	NM_001365479.2(USP40):c.1551A>C (p.Lys517Asn)	not specified [RCV004477428]	uncertain significance	2	233529433	233529433	Human		name
405800967	CV3338230	single nucleotide variant	NM_001365479.2(USP40):c.1670A>G (p.Asp557Gly)	not specified [RCV004477429]	uncertain significance	2	233527462	233527462	Human		name
405800965	CV3338231	single nucleotide variant	NM_001365479.2(USP40):c.1697T>C (p.Leu566Ser)	not specified [RCV004477430]	uncertain significance	2	233527435	233527435	Human		name
405800963	CV3338232	single nucleotide variant	NM_001365479.2(USP40):c.1829G>C (p.Cys610Ser)	not specified [RCV004477431]	uncertain significance	2	233524544	233524544	Human		name
405800961	CV3338233	single nucleotide variant	NM_001365479.2(USP40):c.1903A>G (p.Thr635Ala)	not specified [RCV004477432]	uncertain significance	2	233523468	233523468	Human		name
405800959	CV3338234	single nucleotide variant	NM_001365479.2(USP40):c.1924C>G (p.Leu642Val)	not specified [RCV004477433]	uncertain significance	2	233523447	233523447	Human		name
405800957	CV3338235	single nucleotide variant	NM_001365479.2(USP40):c.1982T>C (p.Val661Ala)	not specified [RCV004477434]	uncertain significance	2	233523389	233523389	Human		name
405800955	CV3338236	single nucleotide variant	NM_001365479.2(USP40):c.2024G>A (p.Gly675Asp)	not specified [RCV004477435]	uncertain significance	2	233523347	233523347	Human		name
405800953	CV3338237	single nucleotide variant	NM_001365479.2(USP40):c.2036C>A (p.Thr679Lys)	not specified [RCV004477436]	uncertain significance	2	233523335	233523335	Human		name
405800952	CV3338238	single nucleotide variant	NM_001365479.2(USP40):c.2170A>G (p.Ile724Val)	not specified [RCV004477437]	likely benign	2	233523201	233523201	Human		name
405800950	CV3338239	single nucleotide variant	NM_001365479.2(USP40):c.2342G>A (p.Arg781Gln)	not specified [RCV004477438]	uncertain significance	2	233519655	233519655	Human		name
405800946	CV3338241	single nucleotide variant	NM_001365479.2(USP40):c.2432G>T (p.Cys811Phe)	not specified [RCV004477440]	uncertain significance	2	233512574	233512574	Human		name
405800942	CV3338243	single nucleotide variant	NM_001365479.2(USP40):c.2830G>T (p.Gly944Cys)	not specified [RCV004477442]	uncertain significance	2	233493512	233493512	Human		name
405800940	CV3338244	single nucleotide variant	NM_001365479.2(USP40):c.2942A>G (p.Gln981Arg)	not specified [RCV004477443]	uncertain significance	2	233491237	233491237	Human		name
405800938	CV3338245	single nucleotide variant	NM_001365479.2(USP40):c.2996C>T (p.Ala999Val)	not specified [RCV004477444]	likely benign	2	233491183	233491183	Human		name
405800890	CV3338333	single nucleotide variant	NM_001346022.3(USP45):c.1024A>G (p.Lys342Glu)	not specified [RCV004477532]	uncertain significance	6	99466755	99466755	Human		name
405800892	CV3338334	single nucleotide variant	NM_001346022.3(USP45):c.1268A>C (p.Gln423Pro)	not specified [RCV004477533]	uncertain significance	6	99464644	99464644	Human		name
405800894	CV3338335	single nucleotide variant	NM_001346022.3(USP45):c.1504G>C (p.Asp502His)	not specified [RCV004477534]	uncertain significance	6	99446268	99446268	Human		name
405800896	CV3338336	single nucleotide variant	NM_001346022.3(USP45):c.2090G>T (p.Arg697Leu)	not specified [RCV004477535]	uncertain significance	6	99439839	99439839	Human		name
405800898	CV3338337	single nucleotide variant	NM_001346022.3(USP45):c.2282C>T (p.Ser761Leu)	not specified [RCV004477536]	likely benign	6	99437278	99437278	Human		name
405800900	CV3338338	single nucleotide variant	NM_001346022.3(USP45):c.2311C>T (p.Pro771Ser)	not specified [RCV004477537]	uncertain significance	6	99437249	99437249	Human		name
405800902	CV3338339	single nucleotide variant	NM_001346022.3(USP45):c.2380G>T (p.Val794Leu)	not specified [RCV004477538]	uncertain significance	6	99435781	99435781	Human		name
405800910	CV3338343	single nucleotide variant	NM_001282659.2(USP47):c.1787C>G (p.Pro596Arg)	not specified [RCV004477542]	uncertain significance	11	11933853	11933853	Human		name
405800911	CV3338344	single nucleotide variant	NM_001282659.2(USP47):c.2134A>G (p.Ile712Val)	not specified [RCV004477543]	likely benign	11	11938313	11938313	Human		name
405800913	CV3338345	single nucleotide variant	NM_001282659.2(USP47):c.2168C>A (p.Thr723Lys)	not specified [RCV004477544]	uncertain significance	11	11938347	11938347	Human		name
405800919	CV3338348	single nucleotide variant	NM_001282659.2(USP47):c.2937T>A (p.Asn979Lys)	not specified [RCV004477547]	uncertain significance	11	11942958	11942958	Human		name
405800986	CV3338359	single nucleotide variant	NM_001282659.2(USP47):c.1139T>C (p.Met380Thr)	not specified [RCV004477558]	uncertain significance	11	11920415	11920415	Human		name
405800988	CV3338360	single nucleotide variant	NM_001282659.2(USP47):c.1186G>C (p.Asp396His)	not specified [RCV004477559]	uncertain significance	11	11920462	11920462	Human		name
405801004	CV3338369	single nucleotide variant	NM_001286554.2(USP49):c.1611A>C (p.Arg537Ser)	not specified [RCV004477568]	uncertain significance	6	41799889	41799889	Human		name
408394822	CV3392560	single nucleotide variant	NM_001346022.3(USP45):c.2222C>T (p.Ser741Leu)	Laterality defects, autosomal dominant [RCV004765016]\|not specified [RCV004877849]	uncertain significance	6	99437338	99437338	Human	1	name
596940064	CV3408082	single nucleotide variant	NM_001346022.3(USP45):c.2320A>T (p.Lys774Ter)	Retinal dystrophy [RCV004814542]	uncertain significance	6	99435841	99435841	Human	2	name
596941413	CV3408091	single nucleotide variant	NM_001346022.3(USP45):c.2190C>A (p.Tyr730Ter)	Retinal dystrophy [RCV004815762]	uncertain significance	6	99437370	99437370	Human	2	name
407451393	CV3408904	single nucleotide variant	NM_001346022.3(USP45):c.1082C>T (p.Thr361Met)	Optic atrophy [RCV004817557]\|not specified [RCV004676343]	uncertain significance	6	99466697	99466697	Human	2	name
407528847	CV3487628	single nucleotide variant	NM_001365479.2(USP40):c.2105C>T (p.Thr702Met)	not specified [RCV004680597]	likely benign	2	233523266	233523266	Human		name
407528854	CV3487631	single nucleotide variant	NM_001365479.2(USP40):c.2837C>T (p.Ser946Leu)	not specified [RCV004680600]	uncertain significance	2	233493505	233493505	Human		name
407528857	CV3487632	single nucleotide variant	NM_001365479.2(USP40):c.1378A>G (p.Ile460Val)	not specified [RCV004680601]	uncertain significance	2	233533572	233533572	Human		name
407528865	CV3487636	single nucleotide variant	NM_001365479.2(USP40):c.1501T>C (p.Cys501Arg)	not specified [RCV004680605]	uncertain significance	2	233529483	233529483	Human		name
407528867	CV3487637	single nucleotide variant	NM_001365479.2(USP40):c.1879G>A (p.Glu627Lys)	not specified [RCV004680606]	uncertain significance	2	233524494	233524494	Human		name
407528869	CV3487638	single nucleotide variant	NM_001365479.2(USP40):c.2002T>G (p.Phe668Val)	not specified [RCV004680607]	uncertain significance	2	233523369	233523369	Human		name
407528876	CV3487643	single nucleotide variant	NM_001365479.2(USP40):c.1022T>C (p.Ile341Thr)	not specified [RCV004680611]	uncertain significance	2	233542308	233542308	Human		name
407528944	CV3487678	single nucleotide variant	NM_001346022.3(USP45):c.1769T>C (p.Leu590Ser)	not specified [RCV004680644]	likely benign	6	99446003	99446003	Human		name
407464639	CV3487680	single nucleotide variant	NM_001346022.3(USP45):c.1172A>G (p.Lys391Arg)	not specified [RCV004688557]	uncertain significance	6	99464740	99464740	Human		name
407528952	CV3487683	single nucleotide variant	NM_001282659.2(USP47):c.1960G>A (p.Gly654Arg)	not specified [RCV004680648]	uncertain significance	11	11936393	11936393	Human		name
407528954	CV3487684	single nucleotide variant	NM_001282659.2(USP47):c.2864A>T (p.Asp955Val)	not specified [RCV004680649]	uncertain significance	11	11942885	11942885	Human		name
597798949	CV3623070	single nucleotide variant	NM_001365479.2(USP40):c.1134C>G (p.Asn378Lys)	not specified [RCV004879436]	uncertain significance	2	233540698	233540698	Human		name
597798951	CV3623071	single nucleotide variant	NM_001365479.2(USP40):c.1246C>T (p.Leu416Phe)	not specified [RCV004879437]	uncertain significance	2	233533704	233533704	Human		name
597798953	CV3623072	single nucleotide variant	NM_001365479.2(USP40):c.2443G>A (p.Asp815Asn)	not specified [RCV004879438]	uncertain significance	2	233511792	233511792	Human		name
597798960	CV3623075	single nucleotide variant	NM_001365479.2(USP40):c.2948C>G (p.Ser983Cys)	not specified [RCV004879441]	uncertain significance	2	233491231	233491231	Human		name
597798966	CV3623078	single nucleotide variant	NM_001365479.2(USP40):c.2755A>T (p.Thr919Ser)	not specified [RCV004879444]	uncertain significance	2	233496793	233496793	Human		name
597696741	CV3623160	single nucleotide variant	NM_001346022.3(USP45):c.2018T>C (p.Leu673Ser)	not specified [RCV004885190]	uncertain significance	6	99443620	99443620	Human		name
597799037	CV3623161	single nucleotide variant	NM_001346022.3(USP45):c.1328G>A (p.Arg443Gln)	not specified [RCV004879501]	uncertain significance	6	99446444	99446444	Human		name
597799039	CV3623162	single nucleotide variant	NM_001346022.3(USP45):c.2324C>T (p.Ala775Val)	not specified [RCV004879502]	uncertain significance	6	99435837	99435837	Human		name
597799041	CV3623163	single nucleotide variant	NM_001346022.3(USP45):c.2311C>G (p.Pro771Ala)	not specified [RCV004879503]	uncertain significance	6	99437249	99437249	Human		name
597799043	CV3623164	single nucleotide variant	NM_001346022.3(USP45):c.1579G>A (p.Gly527Ser)	not specified [RCV004879504]	uncertain significance	6	99446193	99446193	Human		name
597799247	CV3623165	single nucleotide variant	NM_001346022.3(USP45):c.1939A>G (p.Asn647Asp)	not specified [RCV004879505]	uncertain significance	6	99445833	99445833	Human		name
597696751	CV3623167	single nucleotide variant	NM_001346022.3(USP45):c.1442G>A (p.Arg481His)	not specified [RCV004885191]	uncertain significance	6	99446330	99446330	Human		name
597799047	CV3623168	single nucleotide variant	NM_001346022.3(USP45):c.1415T>C (p.Phe472Ser)	not specified [RCV004879506]	uncertain significance	6	99446357	99446357	Human		name
597799051	CV3623170	single nucleotide variant	NM_001346022.3(USP45):c.2312C>T (p.Pro771Leu)	not specified [RCV004879508]	uncertain significance	6	99437248	99437248	Human		name
597799055	CV3623172	single nucleotide variant	NM_001346022.3(USP45):c.2090G>A (p.Arg697His)	not specified [RCV004879510]	uncertain significance	6	99439839	99439839	Human		name
597696756	CV3623173	single nucleotide variant	NM_001346022.3(USP45):c.1394T>C (p.Met465Thr)	not specified [RCV004885192]	uncertain significance	6	99446378	99446378	Human		name
597799065	CV3623180	single nucleotide variant	NM_001282659.2(USP47):c.2255G>A (p.Arg752His)	not specified [RCV004879515]	uncertain significance	11	11940490	11940490	Human		name
597696774	CV3623181	single nucleotide variant	NM_001282659.2(USP47):c.2036C>T (p.Thr679Met)	not specified [RCV004885194]	uncertain significance	11	11936469	11936469	Human		name
597799069	CV3623183	single nucleotide variant	NM_001282659.2(USP47):c.2237G>A (p.Arg746His)	not specified [RCV004879517]	uncertain significance	11	11940472	11940472	Human		name
597696787	CV3623184	single nucleotide variant	NM_001282659.2(USP47):c.2369A>G (p.His790Arg)	not specified [RCV004885195]	uncertain significance	11	11942390	11942390	Human		name
597696797	CV3623185	single nucleotide variant	NM_001282659.2(USP47):c.2219T>C (p.Met740Thr)	not specified [RCV004885196]	uncertain significance	11	11940454	11940454	Human		name
597799071	CV3623188	single nucleotide variant	NM_001282659.2(USP47):c.1243A>G (p.Thr415Ala)	not specified [RCV004879518]	uncertain significance	11	11922748	11922748	Human		name
597799076	CV3623190	single nucleotide variant	NM_001282659.2(USP47):c.2404A>G (p.Ile802Val)	not specified [RCV004879520]	uncertain significance	11	11942425	11942425	Human		name
597799080	CV3623192	single nucleotide variant	NM_001282659.2(USP47):c.2263A>G (p.Ser755Gly)	not specified [RCV004879522]	uncertain significance	11	11940498	11940498	Human		name
597799250	CV3623202	single nucleotide variant	NM_001286554.2(USP49):c.1714G>A (p.Val572Ile)	not specified [RCV004879527]	uncertain significance	6	41798886	41798886	Human		name
597696861	CV3623203	single nucleotide variant	NM_001286554.2(USP49):c.1394T>C (p.Ile465Thr)	not specified [RCV004885203]	uncertain significance	6	41803973	41803973	Human		name
597799091	CV3623204	single nucleotide variant	NM_001286554.2(USP49):c.1580A>G (p.Asn527Ser)	not specified [RCV004879528]	uncertain significance	6	41799920	41799920	Human		name
598204297	CV3932850	single nucleotide variant	NM_001365479.2(USP40):c.1358A>G (p.Asn453Ser)	not specified [RCV005290669]	uncertain significance	2	233533592	233533592	Human		name
598204303	CV3932853	single nucleotide variant	NM_001365479.2(USP40):c.2044G>A (p.Ala682Thr)	not specified [RCV005290670]	uncertain significance	2	233523327	233523327	Human		name
598275312	CV3932855	single nucleotide variant	NM_001365479.2(USP40):c.1915T>A (p.Cys639Ser)	not specified [RCV005304446]	uncertain significance	2	233523456	233523456	Human		name
598275313	CV3932856	single nucleotide variant	NM_001365479.2(USP40):c.2566G>A (p.Gly856Arg)	not specified [RCV005304447]	uncertain significance	2	233510096	233510096	Human		name
598275314	CV3932857	single nucleotide variant	NM_001365479.2(USP40):c.2308T>G (p.Ser770Ala)	not specified [RCV005304448]	uncertain significance	2	233521008	233521008	Human		name
598275315	CV3932858	single nucleotide variant	NM_001365479.2(USP40):c.1638C>G (p.His546Gln)	not specified [RCV005304449]	uncertain significance	2	233527494	233527494	Human		name
598204315	CV3932860	single nucleotide variant	NM_001365479.2(USP40):c.1166G>A (p.Arg389Gln)	not specified [RCV005290672]	uncertain significance	2	233540666	233540666	Human		name
598204323	CV3932862	single nucleotide variant	NM_001365479.2(USP40):c.2525A>G (p.Gln842Arg)	not specified [RCV005290673]	uncertain significance	2	233511710	233511710	Human		name
598204498	CV3932915	single nucleotide variant	NM_001346022.3(USP45):c.1322A>T (p.His441Leu)	not specified [RCV005290701]	uncertain significance	6	99446450	99446450	Human		name
598238820	CV3932920	single nucleotide variant	NM_001346022.3(USP45):c.1534A>G (p.Ser512Gly)	not specified [RCV005296480]	uncertain significance	6	99446238	99446238	Human		name
598238832	CV3932923	single nucleotide variant	NM_001282659.2(USP47):c.1060C>T (p.Arg354Trp)	not specified [RCV005296482]	uncertain significance	11	11920246	11920246	Human		name
598238844	CV3932927	single nucleotide variant	NM_001282659.2(USP47):c.1346A>T (p.Asn449Ile)	not specified [RCV005296484]	uncertain significance	11	11922851	11922851	Human		name
598204527	CV3932928	single nucleotide variant	NM_001282659.2(USP47):c.2003A>G (p.Lys668Arg)	not specified [RCV005290706]	uncertain significance	11	11936436	11936436	Human		name
598204532	CV3932929	single nucleotide variant	NM_001282659.2(USP47):c.2504A>G (p.Asp835Gly)	not specified [RCV005290707]	uncertain significance	11	11942525	11942525	Human		name
598238850	CV3932930	single nucleotide variant	NM_001282659.2(USP47):c.2383C>A (p.Leu795Met)	not specified [RCV005296485]	uncertain significance	11	11942404	11942404	Human		name
598238895	CV3932939	single nucleotide variant	NM_001286554.2(USP49):c.1000G>A (p.Gly334Ser)	not specified [RCV005296493]	likely benign	6	41805984	41805984	Human		name
14350069	CV590859	single nucleotide variant	NM_001346022.3(USP45):c.1990G>T (p.Gly664Ter)	Short stature [RCV000736193]	pathogenic	6	99443648	99443648	Human	2	name
14350066	CV590860	single nucleotide variant	NM_001346022.3(USP45):c.1567A>G (p.Ser523Gly)	Short stature [RCV000736192]	likely pathogenic	6	99446205	99446205	Human	2	name
14698320	CV625914	single nucleotide variant	NM_001346022.3(USP45):c.1636A>T (p.Lys546Ter)	Leber congenital amaurosis 19 [RCV001250810]\|not provided [RCV000790539]	uncertain significance	6	99446136	99446136	Human	1	name
15197198	CV699689	single nucleotide variant	NM_001346022.3(USP45):c.1194G>A (p.Met398Ile)	not provided [RCV000956399]	benign	6	99464718	99464718	Human		name
15184457	CV710650	single nucleotide variant	NM_001346022.3(USP45):c.1046T>G (p.Phe349Cys)	not provided [RCV000975117]	benign	6	99466733	99466733	Human		name
156174798	CV2194463	single nucleotide variant	NM_001365479.2(USP40):c.3650C>T (p.Thr1217Met)	not specified [RCV004079557]	uncertain significance	2	233477453	233477453	Human		name
156236900	CV2206738	single nucleotide variant	NM_001282659.2(USP47):c.3878C>T (p.Ala1293Val)	not specified [RCV004083428]	uncertain significance	11	11955149	11955149	Human		name
156379122	CV2207887	single nucleotide variant	NM_001365479.2(USP40):c.3658C>T (p.Arg1220Trp)	not specified [RCV004084314]	uncertain significance	2	233477445	233477445	Human		name
156241428	CV2213929	single nucleotide variant	NM_001282659.2(USP47):c.3983A>G (p.His1328Arg)	not specified [RCV004083655]	uncertain significance	11	11956090	11956090	Human		name
156381614	CV2215088	single nucleotide variant	NM_001282659.2(USP47):c.3302G>A (p.Gly1101Glu)	not specified [RCV004084855]	uncertain significance	11	11948512	11948512	Human		name
155988914	CV2234260	single nucleotide variant	NM_001282659.2(USP47):c.3056A>T (p.Tyr1019Phe)	not specified [RCV004106333]	uncertain significance	11	11943077	11943077	Human		name
155976774	CV2246071	single nucleotide variant	NM_001282659.2(USP47):c.3800A>C (p.Asp1267Ala)	not specified [RCV004113980]	uncertain significance	11	11955071	11955071	Human		name
156106125	CV2257257	single nucleotide variant	NM_001365479.2(USP40):c.3688A>T (p.Ile1230Phe)	not specified [RCV004125370]	uncertain significance	2	233477415	233477415	Human		name
155984781	CV2270621	single nucleotide variant	NM_001282659.2(USP47):c.3338A>G (p.Asn1113Ser)	not specified [RCV004137837]	uncertain significance	11	11948548	11948548	Human		name
156259663	CV2274133	single nucleotide variant	NM_001365479.2(USP40):c.3325G>T (p.Asp1109Tyr)	not specified [RCV004134772]	uncertain significance	2	233485850	233485850	Human		name
156078151	CV2318679	single nucleotide variant	NM_001365479.2(USP40):c.3671C>G (p.Pro1224Arg)	not specified [RCV004173574]	uncertain significance	2	233477432	233477432	Human		name
156294522	CV2321416	single nucleotide variant	NM_001365479.2(USP40):c.3367T>A (p.Tyr1123Asn)	not specified [RCV004177404]	uncertain significance	2	233485808	233485808	Human		name
155923161	CV2347455	single nucleotide variant	NM_001282659.2(USP47):c.3692G>A (p.Ser1231Asn)	not specified [RCV004200407]	uncertain significance	11	11952849	11952849	Human		name
156384799	CV2371603	single nucleotide variant	NM_001365479.2(USP40):c.3343G>A (p.Val1115Met)	not specified [RCV004216850]	uncertain significance	2	233485832	233485832	Human		name
155904325	CV2385475	single nucleotide variant	NM_001282659.2(USP47):c.3632G>A (p.Arg1211Gln)	not specified [RCV004233122]	uncertain significance	11	11952789	11952789	Human		name
155962458	CV2388242	single nucleotide variant	NM_001282659.2(USP47):c.3986G>T (p.Arg1329Leu)	not specified [RCV004234700]	uncertain significance	11	11956093	11956093	Human		name
329368650	CV2428094	single nucleotide variant	NM_001365479.2(USP40):c.3353T>C (p.Ile1118Thr)	not specified [RCV004254467]	uncertain significance	2	233485822	233485822	Human		name
329376439	CV2438212	single nucleotide variant	NM_001365479.2(USP40):c.3625A>T (p.Ser1209Cys)	not specified [RCV004256979]	uncertain significance	2	233477478	233477478	Human		name
329354521	CV2448344	single nucleotide variant	NM_001365479.2(USP40):c.3577C>T (p.Arg1193Trp)	not specified [RCV004256630]	uncertain significance	2	233481225	233481225	Human		name
329393671	CV2449785	single nucleotide variant	NM_001365479.2(USP40):c.3680C>G (p.Ser1227Cys)	not specified [RCV004267106]	uncertain significance	2	233477423	233477423	Human		name
329384709	CV2458393	single nucleotide variant	NM_001365479.2(USP40):c.3557G>A (p.Gly1186Glu)	not specified [RCV004266028]	uncertain significance	2	233481245	233481245	Human		name
329396270	CV2462474	single nucleotide variant	NM_001365479.2(USP40):c.3122A>G (p.Gln1041Arg)	not specified [RCV004276655]	uncertain significance	2	233489374	233489374	Human		name
401753123	CV2674786	single nucleotide variant	NM_001282659.2(USP47):c.3332T>C (p.Leu1111Ser)	not specified [RCV004294065]	uncertain significance	11	11948542	11948542	Human		name
401755431	CV2682483	single nucleotide variant	NM_001365479.2(USP40):c.3043G>A (p.Gly1015Ser)	not specified [RCV004290505]	uncertain significance	2	233489453	233489453	Human		name
401889517	CV2756649	single nucleotide variant	NM_001282659.2(USP47):c.3418A>T (p.Ile1140Phe)	not specified [RCV004345166]	uncertain significance	11	11949958	11949958	Human		name
401870696	CV2766274	single nucleotide variant	NM_001282659.2(USP47):c.4027T>C (p.Tyr1343His)	not specified [RCV004342530]	uncertain significance	11	11956134	11956134	Human		name
401898039	CV2780086	single nucleotide variant	NM_001365479.2(USP40):c.3686C>G (p.Ser1229Cys)	not specified [RCV004355748]	uncertain significance	2	233477417	233477417	Human		name
401878017	CV2786939	single nucleotide variant	NM_001365479.2(USP40):c.3256C>T (p.Pro1086Ser)	not specified [RCV004366075]	uncertain significance	2	233485919	233485919	Human		name
405800936	CV3338246	single nucleotide variant	NM_001365479.2(USP40):c.3148C>T (p.Arg1050Trp)	not specified [RCV004477445]	uncertain significance	2	233488288	233488288	Human		name
405800934	CV3338247	single nucleotide variant	NM_001365479.2(USP40):c.3280G>A (p.Ala1094Thr)	not specified [RCV004477446]	likely benign	2	233485895	233485895	Human		name
405800872	CV3338248	single nucleotide variant	NM_001365479.2(USP40):c.3400T>C (p.Ser1134Pro)	not specified [RCV004477447]	uncertain significance	2	233485775	233485775	Human		name
405800818	CV3338249	single nucleotide variant	NM_001365479.2(USP40):c.3520G>A (p.Asp1174Asn)	not specified [RCV004477448]	uncertain significance	2	233481282	233481282	Human		name
405800768	CV3338250	single nucleotide variant	NM_001365479.2(USP40):c.3665G>A (p.Arg1222Gln)	not specified [RCV004477449]	uncertain significance	2	233477438	233477438	Human		name
405800921	CV3338349	single nucleotide variant	NM_001282659.2(USP47):c.3226C>T (p.Arg1076Trp)	not specified [RCV004477548]	uncertain significance	11	11948079	11948079	Human		name
405800923	CV3338350	single nucleotide variant	NM_001282659.2(USP47):c.3359T>G (p.Phe1120Cys)	not specified [RCV004477549]	uncertain significance	11	11949899	11949899	Human		name
405800925	CV3338351	single nucleotide variant	NM_001282659.2(USP47):c.3397C>T (p.Arg1133Trp)	not specified [RCV004477550]	uncertain significance	11	11949937	11949937	Human		name
405800927	CV3338352	single nucleotide variant	NM_001282659.2(USP47):c.3409G>A (p.Glu1137Lys)	not specified [RCV004477551]	uncertain significance	11	11949949	11949949	Human		name
405800928	CV3338353	single nucleotide variant	NM_001282659.2(USP47):c.3443G>A (p.Gly1148Asp)	not specified [RCV004477552]	uncertain significance	11	11949983	11949983	Human		name
405800930	CV3338354	single nucleotide variant	NM_001282659.2(USP47):c.3455G>C (p.Ser1152Thr)	not specified [RCV004477553]	uncertain significance	11	11949995	11949995	Human		name
405800932	CV3338355	single nucleotide variant	NM_001282659.2(USP47):c.3512T>C (p.Leu1171Ser)	not specified [RCV004477554]	uncertain significance	11	11950411	11950411	Human		name
405800980	CV3338356	single nucleotide variant	NM_001282659.2(USP47):c.3673G>A (p.Val1225Ile)	not specified [RCV004477555]	uncertain significance	11	11952830	11952830	Human		name
405800982	CV3338357	single nucleotide variant	NM_001282659.2(USP47):c.3884T>C (p.Ile1295Thr)	not specified [RCV004477556]	uncertain significance	11	11955155	11955155	Human		name
407528859	CV3487633	single nucleotide variant	NM_001365479.2(USP40):c.3230G>A (p.Arg1077His)	not specified [RCV004680602]	uncertain significance	2	233485945	233485945	Human		name
407528861	CV3487634	single nucleotide variant	NM_001365479.2(USP40):c.3335G>A (p.Arg1112His)	not specified [RCV004680603]	uncertain significance	2	233485840	233485840	Human		name
407528863	CV3487635	single nucleotide variant	NM_001365479.2(USP40):c.3407G>C (p.Trp1136Ser)	not specified [RCV004680604]	uncertain significance	2	233485768	233485768	Human		name
407528872	CV3487641	single nucleotide variant	NM_001365479.2(USP40):c.3103C>G (p.Leu1035Val)	not specified [RCV004680609]	uncertain significance	2	233489393	233489393	Human		name
407528874	CV3487642	single nucleotide variant	NM_001365479.2(USP40):c.3035T>G (p.Leu1012Arg)	not specified [RCV004680610]	uncertain significance	2	233489461	233489461	Human		name
407528956	CV3487685	single nucleotide variant	NM_001282659.2(USP47):c.3071G>A (p.Gly1024Asp)	not specified [RCV004680650]	uncertain significance	11	11943092	11943092	Human		name
407528959	CV3487686	single nucleotide variant	NM_001282659.2(USP47):c.3394G>A (p.Val1132Ile)	not specified [RCV004680651]	uncertain significance	11	11949934	11949934	Human		name
597798945	CV3623068	single nucleotide variant	NM_001365479.2(USP40):c.3119G>A (p.Arg1040Gln)	not specified [RCV004879434]	likely benign	2	233489377	233489377	Human		name
597798947	CV3623069	single nucleotide variant	NM_001365479.2(USP40):c.3050C>T (p.Pro1017Leu)	not specified [RCV004879435]	uncertain significance	2	233489446	233489446	Human		name
597798955	CV3623073	single nucleotide variant	NM_001365479.2(USP40):c.3395C>T (p.Pro1132Leu)	not specified [RCV004879439]	uncertain significance	2	233485780	233485780	Human		name
597798958	CV3623074	single nucleotide variant	NM_001365479.2(USP40):c.3484G>A (p.Gly1162Arg)	not specified [RCV004879440]	uncertain significance	2	233485551	233485551	Human		name
597798964	CV3623077	single nucleotide variant	NM_001365479.2(USP40):c.3417A>C (p.Gln1139His)	not specified [RCV004879443]	uncertain significance	2	233485618	233485618	Human		name
597724110	CV3623080	single nucleotide variant	NM_001365479.2(USP40):c.3254C>T (p.Ala1085Val)	not specified [RCV004888141]	uncertain significance	2	233485921	233485921	Human		name
597798971	CV3623081	single nucleotide variant	NM_001365479.2(USP40):c.3648G>C (p.Glu1216Asp)	not specified [RCV004879446]	uncertain significance	2	233477455	233477455	Human		name
597724121	CV3623082	single nucleotide variant	NM_001365479.2(USP40):c.3356A>T (p.Glu1119Val)	not specified [RCV004888142]	uncertain significance	2	233485819	233485819	Human		name
597799067	CV3623182	single nucleotide variant	NM_001282659.2(USP47):c.3591G>C (p.Glu1197Asp)	not specified [RCV004879516]	uncertain significance	11	11952748	11952748	Human		name
597696806	CV3623187	single nucleotide variant	NM_001282659.2(USP47):c.3895G>C (p.Asp1299His)	not specified [RCV004885197]	uncertain significance	11	11956002	11956002	Human		name
597799074	CV3623189	single nucleotide variant	NM_001282659.2(USP47):c.3398G>A (p.Arg1133Gln)	not specified [RCV004879519]	uncertain significance	11	11949938	11949938	Human		name
597799078	CV3623191	single nucleotide variant	NM_001282659.2(USP47):c.3326A>T (p.Gln1109Leu)	not specified [RCV004879521]	uncertain significance	11	11948536	11948536	Human		name
597696816	CV3623193	single nucleotide variant	NM_001282659.2(USP47):c.3371C>T (p.Ala1124Val)	not specified [RCV004885198]	uncertain significance	11	11949911	11949911	Human		name
598275310	CV3932852	single nucleotide variant	NM_001365479.2(USP40):c.3236C>T (p.Pro1079Leu)	not specified [RCV005304444]	uncertain significance	2	233485939	233485939	Human		name
598275311	CV3932854	single nucleotide variant	NM_001365479.2(USP40):c.3091C>T (p.Arg1031Cys)	not specified [RCV005304445]	uncertain significance	2	233489405	233489405	Human		name
598204309	CV3932859	single nucleotide variant	NM_001365479.2(USP40):c.3215T>C (p.Leu1072Pro)	not specified [RCV005290671]	uncertain significance	2	233485960	233485960	Human		name
598204329	CV3932863	single nucleotide variant	NM_001365479.2(USP40):c.3440A>C (p.Lys1147Thr)	not specified [RCV005290674]	uncertain significance	2	233485595	233485595	Human		name
598275317	CV3932864	single nucleotide variant	NM_001365479.2(USP40):c.3073T>C (p.Trp1025Arg)	not specified [RCV005304451]	uncertain significance	2	233489423	233489423	Human		name
598204335	CV3932865	single nucleotide variant	NM_001365479.2(USP40):c.3089A>C (p.Lys1030Thr)	not specified [RCV005290675]	uncertain significance	2	233489407	233489407	Human		name
598204510	CV3932922	single nucleotide variant	NM_001282659.2(USP47):c.3707G>A (p.Arg1236Gln)	not specified [RCV005290703]	uncertain significance	11	11952864	11952864	Human		name
598238837	CV3932924	single nucleotide variant	NM_001282659.2(USP47):c.3883A>G (p.Ile1295Val)	not specified [RCV005296483]	uncertain significance	11	11955154	11955154	Human		name
598204516	CV3932925	single nucleotide variant	NM_001282659.2(USP47):c.3577C>A (p.Leu1193Ile)	not specified [RCV005290704]	uncertain significance	11	11950476	11950476	Human		name
151354535	CV1329668	microsatellite	NM_001346022.3(USP45):c.570_571del (p.Gly191fs)	not specified [RCV001818033]	uncertain significance	6	99488728	99488729	Human		name
596939494	CV3407908	deletion	NM_001346022.3(USP45):c.7del (p.Arg2_Val3insTer)	Retinal dystrophy [RCV004814368]	uncertain significance	6	99510214	99510214	Human	2	name
26903307	CV858423	indel	NM_032147.5(USP44):c.873_886delinsT (p.Leu291fs)	Intellectual disability, moderate [RCV001089806]	uncertain significance	12	95533371	95533384	Human		name
243050716	CV2417548	indel	NM_032236.8(USP48):c.2215_2216delinsTT (p.Thr739Leu)	Hearing loss, autosomal dominant 85 [RCV003152420]	pathogenic	1	21706183	21706184	Human		name
151354556	CV1329689	indel	NM_001346022.3(USP45):c.1709_1710delinsAG (p.Gly570Glu)	not specified [RCV001818054]	uncertain significance	6	99446062	99446063	Human		name

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