997349	7	-1	NUBPL	coding, Haplotype	NM_025152.2:c.[166G>A;815-27T>C]	Yes	Current
997350	7	-1	NUBPL	genomic, Haplotype	NG_028349.1:g.[5741G>A;293708T>C]	No	No
571989	561	-1	FECH	genomic, Haplotype	NG_008175.1:g.[40978T>A;40979C>T;40985T>G]	No	No
571990	561	-1	FECH	coding, Haplotype	NM_000140.3:c.[1224T>A;1225C>T;1231T>G]	Yes	No
70419	1631	-1	ACADVL	coding, Haplotype	NM_000018.3:c.[194C>T;739A>C]	Yes	No
70420	1631	-1	ACADVL	genomic, Haplotype	NG_007975.1:g.[5686C>T;7235A>C]	No	No
459019	1752	-1	DBH	genomic, Haplotype	NG_008645.1:g.[5310G>A;16492G>A]	No	No
459020	1752	-1	DBH	coding, Haplotype	NM_000787.3:c.[301G>A;1033G>A]	Yes	No
298837	1904	-1	BTD	coding, Haplotype	NM_000060.2:c.[1207T>G;1330G>C]	Yes	No
298838	1904	-1	BTD	genomic, Haplotype	NG_008019.1:g.[48316T>G;48439G>C]	No	No
80104	1981	-1	ADA	genomic, Haplotype	NG_007385.1:g.[30208A>G;30234C>G]	No	No
80105	1981	-1	ADA	coding, Haplotype	NM_000022.2:c.[290A>G;316C>G]	Yes	No
519613	2067	-1	EFHC1	coding, Haplotype	NM_018100.3:c.[229C>A;662G>A]	Yes	No
519614	2067	-1	EFHC1	genomic, Haplotype	NG_016760.1:g.[8916C>A;37581G>A]	No	No
1408518	2121	-1	TSEN54	coding, Haplotype	NM_207346.2:c.[277T>C;919G>T]	No	No
1408519	2121	-1	TSEN54	genomic, Haplotype	NG_013041.1:g.[5537T>C;10473G>T]	No	No
939704	2240	-1	NCF2	genomic, Haplotype	NG_007267.1:g.[21073A>T;21075A>G]	No	No
939705	2240	-1	NCF2	coding, Haplotype	NM_000433.3:c.[479A>T;481A>G]	Yes	No
1224880	2293	-1	SETX	coding, Haplotype	NM_015046.5:c.[1807A>G;1957C>A]	Yes	No
1224881	2293	-1	SETX	genomic, Haplotype	NG_007946.1:g.[30195A>G;30345C>]	No	No
1224882	2294	-1	SETX	genomic, Haplotype	NG_007946.1:g.[25362G>H;32268C>T]	No	No
1224883	2294	-1	SETX	coding, Haplotype	NM_015046.5:c.[822G>H;3880C>T]	Yes	No
380189	2338	-1	CHST14	genomic, Haplotype	NG_017074.1:g.[5656C>G;5663T>A]	No	No
380190	2338	-1	CHST14	coding, Haplotype	NM_130468.3:c.[403C>G;410T>A]	Yes	No
830439	2555	-1	MEFV	coding, Haplotype	NM_000243.2:c.[442G>C;2082G>A]	Yes	No
830440	2555	-1	MEFV	genomic, Haplotype	NG_007871.1:g.[7002G>C;18223G>A]	No	No
316037	2704	-1	CACNA1H	coding, Haplotype	NM_021098.2:c.[2318G>A;2362C>T]	Yes	No
316038	2704	-1	CACNA1H	genomic, Haplotype	NG_012647.1:g.[56085G>A;56129C>T]	No	No
728388	3146	-1	KCNQ1	genomic, Haplotype	NG_008935.1:g.[132099G>A;147700G>]	No	No
728389	3146	-1	KCNQ1	coding, Haplotype	NM_000218.2:c.[760G>A;1249G>A]	Yes	No
606798	3331	-1	GABBR2	genomic, Haplotype	NG_016426.1:g.[136164A>G;172132G=;271318G=]	No	No
583771	3377	-1	FLCN	coding, Haplotype	NM_144997.5:c.[1301-7_1304delGTTACAGAGTT;1323delCinsGA]	Yes	No
610425	3620	-1	GALT	genomic, Haplotype	NG_009029.1:g.[1237C>T;7808A>G]	No	No
610426	3620	-1	GALT	coding, Haplotype	NM_000155.3:c.[652C>T;c.940A>G]	Yes	No
768948	3667	-1	LCAT	genomic, Haplotype	NG_009778.1:g.[6174G>A;6548C>T]	No	No
768949	3667	-1	LCAT	coding, Haplotype	NM_000229.1:c.[349G>A;544C>T]	Yes	No
771911	3737	-1	LDLR	genomic, Haplotype	NG_009060.1:g.[31817A>C;45139_45147delCGTCTTCCT]	Yes	No
771912	3737	-1	LDLR	coding, Haplotype	NM_000527.4:c.[1690A>C;2396_2404delCGTCTTCCT]	Yes	No
179533	3863	-1	ATP7B	genomic, Haplotype	NG_008806.1:g.[75301T>C;75384G>A]	No	No
179534	3863	-1	ATP7B	coding, Haplotype	NM_000053.3:c.[3443T>C;3526G>A]	Yes	No
660399	3923	-1	HEXA	coding, Haplotype	NM_000520.4:c.[574G>C;598G>A]	Yes	No
660400	3923	-1	HEXA	genomic, Haplotype	NG_009017.1:g.[29949G>C;29973G>A]	No	No
616142	4297	-1	GBA	coding, Haplotype	NM_001005741.2:c.[1448T>C;1483G>C;1497G>C]	Yes	No
616143	4297	-1	GBA	genomic, Haplotype	NG_009783.1:g.[14446T>C;14481G>C;14495G>C]	No	No
616148	4299	-1	GBA	genomic, Haplotype	NG_009783.1:g.[11128G>C;13322G>A]	No	No
616149	4299	-1	GBA	coding, Haplotype	NM_001005741.2:c.[535G>C;c.1093G>A]	Yes	No
616304	4334	-1	GBA	coding, Haplotype	NM_001005741.2:c.[880T>G;1342G>C]	Yes	No
616305	4334	-1	GBA	genomic, Haplotype	NG_009783.1:g.[12240T>G;13971G>C]	No	No
466915	4368	-1	DHCR24	coding, Haplotype	NM_014762.3:c.[881A>C,918G>C]	Yes	No
466916	4368	-1	DHCR24	genomic, Haplotype	NG_008839.1:g.[26807A>C;26844G>C	No	No
1250744	4816	-1	SLC26A4	genomic, Haplotype	NG_008489.1:g.[40329A>C;40350G>A]	No	No
1250745	4816	-1	SLC26A4	coding, Haplotype	NM_000441.1:c.[1468A>C;1489G>A]	Yes	No
1000981	5089	-1	OPA1	coding, Haplotype	NM_015560.2:c.[870+32T>C;870+4T=]	Yes	No
841428	5308	-1	MKKS	genomic, Haplotype	NG_009109.1:g.[25954C>T;26428G>T]	No	No
841429	5308	-1	MKKS	coding, Haplotype	NM_170784.2:c.[250C>T;724G>T]	Yes	No
1501156	5453	-1	WRN	coding, Haplotype	NM_000553.4:c.[375A>T;403A>G]	Yes	No
1501157	5453	-1	WRN	genomic, Haplotype	NG_008870.1:g.[36673A>T;36701A>G]	No	No
439269	5706	-1	CRLF1	genomic, Haplotype	NG_013370.1:g.[12131G>A;17513T>G]	No	No
439270	5706	-1	CRLF1	coding, Haplotype	NM_004750.4:c.[242G>A;1121T>G]	Yes	No
81249	5813	-1	ADAMTS13	coding, Haplotype	NM_139025.3:c.[1342C>G;1523G>A]	Yes	No
81250	5813	-1	ADAMTS13	genomic, Haplotype	NG_011934.1:g.[19863C>G;20837G>A]	No	No
145488	6080	-1	APOL1	coding, Haplotype	NM_003661.3:c.[1024A>G;1152T>G]	Yes	No
145489	6080	-1	APOL1	genomic, Haplotype	NG_023228.1:g.[17790A>G;17918T>G]	No	No
1168323	6319	-1	RPS19	genomic, Haplotype	NG_007080.2:g.[5900G>T;6286C>T]	No	No
1168324	6319	-1	RPS19	coding, Haplotype	NM_001022.3:c.[43G>T;164C>T]	Yes	No
985079	6872	-1	NPHS1	coding, Haplotype	NM_004646.3:c.[1339G>A;2456A>T]	Yes	No
985080	6872	-1	NPHS1	genomic, Haplotype	NG_013356.1:g.[8852G>A;14565A>T]	No	No
1326907	7013	-1	TECTA	genomic, Haplotype	NG_011633.1:g.[68987C>T;69000G>A]	No	No
1326908	7013	-1	TECTA	coding, Haplotype	NM_005422.2:c.[5458C>T;5471G>A]	Yes	No
363209	7239	-1	CFTR	genomic, Haplotype	NG_016465.1:g.[128647C>T;167489G>T]	No	No
363210	7239	-1	CFTR	coding, Haplotype	NM_000492.3:c.[2735C>T;3731G>T]	Yes	No
1332701	7874	-1	TGFBI	genomic, Haplotype	NG_012646.1:g.[32860C>A;32875C>A]	No	No
1332702	7874	-1	TGFBI	coding, Haplotype	NM_000358.2:c.[1637C>A;1652C>A]	Yes	No
56812	7901	-1	ABCA4	coding, Haplotype	NM_000350.2:c.[1622T>C;3113C>T]	Yes	No
56813	7901	-1	ABCA4	genomic, Haplotype	NG_009073.1:g.[62900T>C;82737C>T]	No	No
451364	8152	-1	CX3CR1	coding, Haplotype	NM_001171174.1:c.[841G>A;935C>T]	No	No
451365	8152	-1	CX3CR1	genomic, Haplotype	NG_016362.1:g.[20971G>A;21065C>T]	No	No
1009449	8165	-1	OXCT1	genomic, Haplotype	NG_011823.1:g.[13034C>T;22255T>A]	No	No
1009450	8165	-1	OXCT1	coding, Haplotype	NM_000436.3:c.[173C>T;398T>A]	Yes	No
1239339	8241	-1	SLC10A2	genomic, Haplotype	NG_016648.1:g.[20557T>C;22424C>T]	No	No
1239340	8241	-1	SLC10A2	coding, Haplotype	NM_000452.2:c.[728T>C;785C>T]	Yes	No
1240079	8596	-1	SLC12A3	coding, Haplotype	NM_000339.2:c.[488C>T;2612G>A]	Yes	No
1240080	8596	-1	SLC12A3	genomic, Haplotype	NG_009386.1:g.[8149C>T;34388G>A]	No	No
673881	8911	-1	HSD11B1	genomic, Haplotype	NG_012081.1:g.[25669_25670insA;25710T>G]	No	No
673882	8911	-1	HSD11B1	coding, Haplotype	NM_181755.2:c.[331+53_331+54insA;332-29T>G]	Yes	No
650799	9354	-1	GUCY2D	genomic, Haplotype	NG_009092.1:g.[17030G>C;17031C>A]	No	No
650800	9354	-1	GUCY2D	coding, Haplotype	NM_000180.3:c.[2511G>C;2512C>A]	Yes	No
650805	9356	-1	GUCY2D	coding, Haplotype	NM_000180.3:c.[2511G>C;2512C>T;2516C>T]	Yes	No
650806	9356	-1	GUCY2D	genomic, Haplotype	NG_009092.1:g.[17030G>C;17031C>T;17035C>T]	No	No
1200551	9371	-1	SCN5A	coding, Haplotype	NM_198056.2:c.[3694C>T;4859C>T]	Yes	No
1200552	9371	-1	SCN5A	genomic, Haplotype	NG_008934.1:g.[88118C>T;103160C>T]	No	No
1200820	9398	-1	SCN5A	genomic, Haplotype	NG_008934.1:g.[50606C>T;50744A>G]	No	No
1200821	9398	-1	SCN5A	coding, Haplotype	NM_198056.2:c.[1535C>T;1673A>G]	Yes	No
1200885	9407	-1	SCN5A	coding, Haplotype	NM_198056.2:c.[694G>A;3922C>T]	Yes	No
1200886	9407	-1	SCN5A	genomic, Haplotype	NG_008934.1:g.[40921G>A;92217C>T]	No	No
603565	10361	-1	G6PD	genomic, Haplotype	NG_009015.1:g.[16571G>A;17296A>G]	No	No
603566	10361	-1	G6PD	coding, Haplotype	NM_001042351.1:c.[202G>A;376A>G]	Yes	No
603705	10382	-1	G6PD	coding, Haplotype	NM_001042351.1:c.[376A>G;542A>T]	Yes	No
603706	10382	-1	G6PD	genomic, Haplotype	NG_009015.1:g.[17296A>G;18133A>T]	No	No
603763	10392	-1	G6PD	genomic, Haplotype	NG_009015.1:g.[17237C>G;18135C>T;18183C>T]	No	No
603764	10392	-1	G6PD	coding, Haplotype	NM_001042351.1:c.[317C>G;544C>T;592C>T]	Yes	No
410470	10464	-1	COL4A5	coding, Haplotype	NM_033380.2:c.[866G>T;4282C>T]	Yes	No
410471	10464	-1	COL4A5	genomic, Haplotype	NG_011977.1:g.[145790G>T;251173C>T]	No	No
679456	10502	-1	IDS	coding, Haplotype	NM_000202.5:c.[1464G>T,1466G>C]	Yes	No
679457	10502	-1	IDS	genomic, Haplotype	NG_011900.2:g.[27401G>C;27399G>T]	No	No
628418	10723	-1	GLA	coding, Haplotype	NM_000169.2:c.[196G>C;334C>T]	Yes	No
628419	10723	-1	GLA	genomic, Haplotype	NG_007119.1:g.[8980G>C;9118C>T]	No	No
1043415	10818	-1	PHEX	coding, Haplotype	NM_000444.4:c.[755T>C;759G>A]	Yes	No
1043416	10818	-1	PHEX	genomic, Haplotype	NG_007563.1:g.[66203T>C;66207G>A	No	No
337377	11158	-1	CD40LG	coding, Haplotype	NM_000074.2:c.[384T>A;386A>G]	Yes	No
337378	11158	-1	CD40LG	genomic, Haplotype	NG_007280.1:g.[13217T>A;13219A>G]	No	No
1000146	11542	-1	OFD1	genomic, Haplotype	NG_008872.1:g.[16740_20819del;g.20987_21000del]	Yes	No
1467417	11906	-1	UMPS	genomic, Haplotype	NG_017037.1:g.[9857A>G;18561G>C]	No	No
1467418	11906	-1	UMPS	coding, Haplotype	NM_000373.3:c.[286A>G;285G>C]	Yes	No
679830	11911	-1	IDUA	genomic, Haplotype	NG_008103.1:g.[20771G>C;22397A>T]	No	No
679831	11911	-1	IDUA	coding, Haplotype	NM_000203.3:c.[1225G>C;1962A>T]	Yes	No
455131	12182	-1	CYP21A2	coding, Haplotype	NM_000500.7:c.[844G>T;920_921insT;955C>T;1069C>T]	Yes	No
996460	12304	-1	NTRK1	genomic, Haplotype	NG_007493.1:g.[50210C>T;68377C>T;68405G>T]	No	No
996461	12304	-1	NTRK1	coding, Haplotype	NM_001012331.1:c.[25C>T;1792C>T;1820G>T]	Yes	No
1374087	12722	-1	TPMT	genomic, Haplotype	NG_012137.1:g.[21147G>A;29457A>G]	No	No
1374088	12722	-1	TPMT	coding, Haplotype	NM_000367.2:c.[460G>A;719A>G]	No	No
988939	12809	-1	NR5A1	coding, Haplotype	NM_004959.4:c.[368G>C;386C>T]	Yes	No
988940	12809	-1	NR5A1	genomic, Haplotype	NG_008176.1:g.[11829G>C;11847C>T]	No	No
1173444	12985	-1	RYR1	genomic, Haplotype	NG_008866.1:g.[75620C>T;76659C>G]	No	No
1173445	12985	-1	RYR1	coding, Haplotype	NM_000540.2:c.[8026C>T;8360C>G]	Yes	No
1157258	13065	-1	RHAG	coding, Haplotype	NM_000324.2:c.[808G>A;838G>A]	Yes	No
1157259	13065	-1	RHAG	genomic, Haplotype	NG_011704.1:g.[29341G>A;29371G>A]	No	No
1139986	13157	-1	RAG1	genomic, Haplotype	NG_007528.1:g.[11811C>T;12502G>A]	No	No
1139987	13157	-1	RAG1	coding, Haplotype	NM_000448.2:c.[1519C>T;2210G>A]	Yes	No
1106961	13399	-1	PRNP	genomic, Haplotype	NG_009087.1:g.[18455A>G;18602G>A]	No	No
1106962	13399	-1	PRNP	coding, Haplotype	NM_000311.3:c.[385A>G;532G>A]	Yes	No
714537	13475	-1	KCNE1	coding, Variant	NM_000219.4:c.[172A>C;176T>C]	Yes	No
714538	13475	-1	KCNE1	genomic, Variant	NG_009091.1:g.[66853A>C;66857T>C]	No	No
1044971	13621	-1	PHKB	genomic, Haplotype	NG_016598.1:g.[240110T>C;240113G>T]	No	No
1044972	13621	-1	PHKB	coding, Haplotype	NM_000293.2:c.[2923T>C;2926G>T]	Yes	No
1151924	13906	-1	RET	coding, Haplotype	NM_020975.4:c.[1896G>C;1897C>G;1900T>C]	Yes	No
1151925	13906	-1	RET	genomic, Haplotype	NG_007489.1:g.[42428G>C;42429C>G;42432T>C]	No	No
1152216	13945	-1	RET	genomic, Haplotype	NG_007489.1:g.[47480G>A;48116C>G]	No	No
1152217	13945	-1	RET	coding, Haplotype	NM_020975.4:c.[2410G>A;2711C>G]	Yes	No
905029	14131	-1	MYH11	genomic, Haplotype	NG_009299.1:g.[140610G>T;143694G>A]	No	No
905030	14131	-1	MYH11	coding, Haplotype	NM_022844.2:c.[4578+1G>T;5273G>A]	Yes	No
859355	14180	-1	MPZ	coding, Haplotype	NM_000530.6:c.[341T>C;346A>C;382G>A]	Yes	No
859356	14180	-1	MPZ	genomic, Haplotype	NG_008055.1:g.[8158T>C;8163A>C;8199G>A]	No	No
859365	14182	-1	MPZ	genomic, Haplotype	NG_008055.1:g.[8083T>A;8091G>A;8546C>G]	No	No
859366	14182	-1	MPZ	coding, Haplotype	NM_000530.6:c.[266T>A;274G>A;486C>G]	Yes	No
784321	14382	-1	LEF1	coding, Haplotype	NM_016269.4:c.[133G>A;181T>C]	Yes	No
784322	14382	-1	LEF1	genomic, Haplotype	NG_015798.1:g.[6322G>A;6370T>C]	No	No
785701	14414	-1	LHB	genomic, Haplotype	NG_011464.1:g.[5443T>C;5465T>C]	No	No
785702	14414	-1	LHB	coding, Haplotype	NM_000894.2:c.[82T>C;104T>C]	Yes	No
763471	14535	-1	LAMB2	coding, Haplotype	NM_002292.3:c.[4140C>A;4177C>T]	Yes	No
763472	14535	-1	LAMB2	genomic, Haplotype	NG_008094.1:g.[14951C>A;14988C>T]	No	No
677392	14913	-1	HTN3	genomic, Haplotype	NG_012279.1:g.[9774G>A;9793T>A]	No	No
677393	14913	-1	HTN3	coding, Haplotype	NM_000200.2:c.[122G>A;141T>A]	Yes	No
251	15036	-1	-	genomic, Haplotype	NG_000007.3:g.[48160C>T;49223C>G]	No	No
657968	15036	-1	HBG1	coding, Haplotype	NM_000559.2:c.[227C>T;410C>G]	Yes	No
252	15041	-1	-	genomic, Haplotype	NG_000007.3:g.[48160C>T;49222G>T]	No	No
657977	15041	-1	HBG1	coding, Haplotype	NM_000559.2:c.[227C>T;409G>T]	Yes	No
265	15098	-1	-	genomic, Haplotype	NG_000007.3:g.[70613G>A;71010A>G]	No	No
655624	15098	-1	HBB	coding, Haplotype	NM_000518.4:c.[19G>A;286A>G]	Yes	No
266	15127	-1	-	genomic, Haplotype	NG_000007.3:g.[70614A>T;70944G>A]	No	No
655729	15127	-1	HBB	coding, Haplotype	NM_000518.4:c.[20A>T;220G>A]	Yes	No
267	15128	-1	-	genomic, Haplotype	NG_000007.3:g.[70614A>T;70900C>G]	No	No
655730	15128	-1	HBB	coding, Haplotype	NM_000518.4:c.[20A>T;176C>G]	Yes	No
268	15165	-1	-	genomic, Haplotype	NG_000007.3:g.[71908G>C;71933G>A]	No	No
655858	15165	-1	HBB	coding, Haplotype	NM_000518.4:c.[334G>C;359G>A]	Yes	No
269	15262	-1	-	genomic, Haplotype	NG_000007.3:g.[71917C>A;71933G>A]	No	No
656219	15262	-1	HBB	coding, Haplotype	NM_000518.4:c.[343C>A;359G>A]	Yes	No
270	15313	-1	-	genomic, Haplotype	NG_000007.3:g.[70893G>C;70983G>C]	No	No
656388	15313	-1	HBB	coding, Haplotype	NM_000518.4:c.[169G>C;259G>C]	Yes	No
271	15334	-1	-	genomic, Haplotype	NG_000007.3:g.[70614A>T;70664G>A]	No	No
656461	15334	-1	HBB	coding, Haplotype	NM_000518.4:c.[20A>T;70G>A]	Yes	No
272	15335	-1	-	genomic, Haplotype	NG_000007.3:g.[70614A>T;71938G>A]	No	No
656462	15335	-1	HBB	coding, Haplotype	NM_000518.4:c.[20A>T;364G>A]	Yes	No
273	15336	-1	-	genomic, Haplotype	NG_000007.3:g.[70614A>T;70973G>Y]	No	No
656463	15336	-1	HBB	coding, Haplotype	NM_000518.4:c.[20A>T;249G>Y]	Yes	No
274	15337	-1	-	genomic, Haplotype	NG_000007.3:g.[70614A>T;72002C>T]	No	No
656464	15337	-1	HBB	coding, Haplotype	NM_000518.4:c.[20A>T;428C>T]	Yes	No
275	15366	-1	-	genomic, Haplotype	NG_000007.3:g.[70673G>A;71938G>C]	No	No
656577	15366	-1	HBB	coding, Haplotype	NM_000518.4:c.[79G>A;364G>C]	Yes	No
309	15496	-1	-	genomic, Haplotype	NG_000007.3:g.[71004T>C;71938G>C]	No	No
657011	15496	-1	HBB	coding, Haplotype	NM_000518.4:c.[280T>C;364G>C]	Yes	No
310	15497	-1	-	genomic, Haplotype	NG_000007.3:g.[70878C>T;70881G>A]	No	No
657012	15497	-1	HBB	coding, Haplotype	NM_000518.4:c.[154C>T;157G>A]	Yes	No
314	15516	-1	-	genomic, Haplotype	NG_000007.3:g.[71002A>C;71039G>Y]	No	No
657059	15516	-1	HBB	coding, Haplotype	NM_000518.4:c.[278A>C;315G>Y]	Yes	No
315	15541	-1	-	genomic, Haplotype	NG_000007.3:g.[70822T>A;71019G>A]	No	No
657156	15541	-1	HBB	coding, Haplotype	NM_000518.4:c.[98T>A;295G>A]	Yes	No
657293	15581	-1	HBB	coding, Haplotype	NM_000518.4:c.[197A>T;367T>C]	Yes	No
316	15591	-1	-	genomic, Haplotype	NG_000007.3:g.[70623C>A;71938G>C]	No	No
657326	15591	-1	HBB	coding, Haplotype	NM_000518.4:c.[29C>A;364G>C]	Yes	No
317	15596	-1	-	genomic, Haplotype	NG_000007.3:g.[70628G>A;71938G>A]	No	No
657339	15596	-1	HBB	coding, Haplotype	NM_000518.4:c.[34G>A;364G>A]	Yes	No
318	15610	-1	-	genomic, Haplotype	NG_000007.3:g.[70995G>A;70614A>T]	No	No
657388	15610	-1	HBB	coding, Haplotype	NM_000518.4:c.[20A>T;271G>A]	Yes	No
319	15612	-1	-	genomic, Haplotype	NG_000007.3:g.[70614A>T;70929C>T]	No	No
657393	15612	-1	HBB	coding, Haplotype	NM_000518.4:c.[20A>T;205C>T]	Yes	No
320	15617	-1	-	genomic, Haplotype	NG_000007.3:g.[71998C>G;72007A>T]	No	No
657406	15617	-1	HBB	coding, Haplotype	NM_000518.4:c.[424C>G;433A>T]	Yes	No
321	15762	-1	-	genomic, Haplotype	NG_000006.1:g.[37931A>G;37935C>G]	No	No
654703	15762	-1	HBA1	coding, Haplotype	NM_000558.3:c.[235A>G;239C>G]	Yes	No
576264	16292	-1	FGFR1	genomic, Haplotype	NG_007729.1:g.[59662C>A;59669C>G]	No	No
576265	16292	-1	FGFR1	coding, Haplotype	NM_023110.2:c.[2165C>A;2172C>G]	Yes	No
590910	16318	-1	FMO3	coding, Haplotype	NM_006894.4:c.[472G>A;923A>G]	Yes	Current
590911	16318	-1	FMO3	genomic, Haplotype	NG_012690.1:g.[21949G>A;28225A>G]	No	No
578026	16353	-1	FGFR3	coding, Haplotype	NM_000142.4:c.[1130T>G;1138G>M]	Yes	No
578027	16353	-1	FGFR3	genomic, Haplotype	NG_012632.1:g.[16073T>G;16081G>M]	No	No
578060	16360	-1	FGFR3	genomic, Haplotype	NG_012632.1:g.[17085A>G;17333C>A]	No	No
578061	16360	-1	FGFR3	coding, Haplotype	NM_000142.4:c.[1454A>G;1620C>A]	Yes	No
600266	16477	-1	FTL	coding, Haplotype	NM_000146.3:c.[-178T>G;-182C>T]	Yes	No
361126	16565	-1	CFD	coding, Haplotype	NM_001928.2:c.[638T>G;640T>C]	Yes	No
361127	16565	-1	CFD	genomic, Haplotype	NG_007274.1:g.[8450T>G;8452T>C]	No	No
525679	16747	-1	ELANE	coding, Haplotype	NM_001972.2:c.[292G>T;301G>T]	Yes	No
525680	16747	-1	ELANE	genomic, Haplotype	NG_009627.1:g.[6039G>T;6048G>T	No	No
523148	16751	-1	EGR2	genomic, Haplotype	NG_008936.2:g.[111409T>G;111410G>T]	No	No
523149	16751	-1	EGR2	coding, Haplotype	NM_000399.3:c.[1146T>G;1147G>T]	Yes	No
1355104	16773	-1	TOP1	coding, Haplotype	NM_003286.2:c.[1598A>G;1748G=]	Yes	No
1355105	16773	-1	TOP1	genomic, Haplotype	NG_012262.1:g.[90294A>G;92497G=]	No	No
454025	16876	-1	CYP11B2	genomic, Haplotype	NG_008374.1:g.[7744C>T;9994T>C]	No	No
454026	16876	-1	CYP11B2	coding, Haplotype	NM_000498.3:c.[541C>T;1157T>C]	Yes	No
454027	16877	-1	CYP11B2	coding, Haplotype	NM_000498.3:c.[594A>C;1157T>C]	Yes	No
454028	16877	-1	CYP11B2	genomic, Haplotype	NG_008374.1:g.[7797A>C;9994T>C]	No	No
456457	16887	-1	CYP2E1	genomic, Haplotype	NG_008383.1:g.[3739G>C;3979C>T]	No	No
456421	16895	-1	CYP2D6	genomic, Haplotype	NG_008376.2:g.[7941C>T;9271G>C]	No	No
456422	16895	-1	CYP2D6	coding, Haplotype	NM_000106.5:c.[886C>T;457G>C]	Yes	No
441382	16948	-1	CRYBB3	coding, Variant	NM_004076.4:c.[493G>C];[493G>C]	Yes	Current
1157774	17709	-1	RHCE	genomic, Haplotype	NG_009208.2:g.[5134G=;17033C=;17058A=;17162C=]	No	No
1157775	17709	-1	RHCE	coding, Haplotype	NM_020485.4:c.[48G=;178C=;203A=;307C=]	Yes	No
601625	17716	-1	FUT3	coding, Haplotype	NM_000149.3:c.[59T>G;508G>A]	Yes	No
601626	17716	-1	FUT3	genomic, Haplotype	NG_007482.1:g.[11694T>G;12143G>A]	No	No
67418	17738	-1	ABO	coding, Haplotype	NM_020469.2:c.[467C>T;803G>C]	Yes	No
67419	17738	-1	ABO	genomic, Haplotype	NG_006669.1:g.[21404C>T;21740G>C]	No	No
145310	17854	-1	APOE	genomic, Haplotype	NG_007084.2:g.[8299G>A;8302G>A]	No	No
145311	17854	-1	APOE	coding, Haplotype	NM_000041.2:c.[784G>A;787G>A]	Yes	No
145312	17855	-1	APOE	coding, Haplotype	NM_000041.2:c.[388T>C;478C>T]	Yes	No
145313	17855	-1	APOE	genomic, Haplotype	NG_007084.2:g.[7903T>C;7993C>T]	No	No
145314	17856	-1	APOE	genomic, Haplotype	NG_007084.2:g.[7949G>A;8041C>T]	No	No
145315	17856	-1	APOE	coding, Haplotype	NM_000041.2:c.[434G>A;526C>T]	Yes	No
145331	17860	-1	APOE	genomic, Haplotype	NG_007084.2:g.[7026G>A;8002C>T]	No	No
145332	17860	-1	APOE	coding, Haplotype	NM_000041.2:c.[91G>A;487C>T]	Yes	No
145348	17866	-1	APOE	genomic, Haplotype	NG_007084.2:g.[8041C>T;8239C>G]	No	No
145349	17866	-1	APOE	coding, Haplotype	NM_000041.2:c.[526C>T;724C>G]	Yes	No
145350	17867	-1	APOE	coding, Haplotype	NM_000041.2:c.[61G>A;91G>A]	Yes	No
145351	17867	-1	APOE	genomic, Haplotype	NG_007084.2:g.[6996G>A;7026G>A]	No	No
145352	17868	-1	APOE	genomic, Haplotype	NG_007084.2:g.[8041C>T;8276T>A]	No	No
145353	17868	-1	APOE	coding, Haplotype	NM_000041.2:c.[526C>T;761T>A]	Yes	No
145354	17869	-1	APOE	coding, Haplotype	NM_000041.2:c.[388T>C;805C>G]	Yes	No
145355	17869	-1	APOE	genomic, Haplotype	NG_007084.2:g.[7903T>C;8320C>G]	No	No
145356	17870	-1	APOE	genomic, Haplotype	NG_007084.2:g.[7072T>C;7903T>C]	No	No
145357	17870	-1	APOE	coding, Haplotype	NM_000041.2:c.[137T>C;388T>C]	Yes	No
145363	17872	-1	APOE	genomic, Haplotype	NG_007084.2:g.[7820C>G;7903T>C]	No	No
145364	17872	-1	APOE	coding, Haplotype	NM_000041.2:c.[305C>G;388T>C]	Yes	No
145365	17873	-1	APOE	coding, Haplotype	NM_000041.2:c.[349G>A;508G>C]	Yes	No
145366	17873	-1	APOE	genomic, Haplotype	NG_007084.2:g.[7864G>A;8023G>C]	No	No
1221402	17972	-1	SERPINA1	coding, Haplotype	NM_001127701.1:c.[227_229delTCT;514G>A]	Yes	No
73713	18293	-1	ACTA1	coding, Haplotype	NM_001100.3:c.[222G>T;223C>T]	Yes	No
73714	18293	-1	ACTA1	genomic, Haplotype	NG_006672.1:g.[6309G>T;6310C>T]	No	No
298859	24975	-1	BTD	genomic, Haplotype	NG_008019.1:g.[38765G>A;48380G>C]	No	No
298860	24975	-1	BTD	coding, Haplotype	NM_000060.2:c.[133G>A;1271G>C]	Yes	No
298866	24977	-1	BTD	coding, Haplotype	NM_000060.2:c.[159C>A;160G>T]	Yes	No
298867	24977	-1	BTD	genomic, Haplotype	NG_008019.1:g.[38791C>A;38792G>T]	No	No
298929	24994	-1	BTD	genomic, Haplotype	NG_008019.1:g.[38915C>T;48439G>C]	No	No
298930	24994	-1	BTD	coding, Haplotype	NM_000060.2:c.[283C>T;1330G>C]	Yes	No
299033	25016	-1	BTD	coding, Haplotype	NM_000060.2:c.[511G>A;1330G>C]	Yes	No
299034	25016	-1	BTD	genomic, Haplotype	NG_008019.1:g.[47620G>A;48439G>C]	No	No
299103	25030	-1	BTD	genomic, Haplotype	NG_008019.1:g.[47750A>G;48439G>C]	No	No
299104	25030	-1	BTD	coding, Haplotype	NM_000060.2:c.[641A>G;1330G>C]	Yes	No
299155	25042	-1	BTD	coding, Haplotype	NM_000060.2:c.[794A>T;933T>G]	Yes	No
299156	25042	-1	BTD	genomic, Haplotype	NG_008019.1:g.[47903A>T;48042T>G]	No	No
421328	29642	-1	COL6A2	genomic, Haplotype	NG_008675.1:g.[38863G>A;38901C>T]	No	No
421329	29642	-1	COL6A2	coding, Haplotype	NM_001849.3:c.[2489G>A;2527C>T]	Yes	No
1173514	29876	-1	RYR1	coding, Haplotype	NM_000540.2:c.[5726_5727delAG;9242T>C]	Yes	No
436767	30118	-1	CPT2	genomic, Haplotype	NG_008035.1:g.[19301T>G;19348G>A]	No	No
436768	30118	-1	CPT2	coding, Haplotype	NM_000098.2:c.[1055T>G;1102G>A]	Yes	No
1212350	30359	-1	SCN9A	genomic, Haplotype	NG_012798.1:g.[103958A>C;108242G>T]	No	No
1212351	30359	-1	SCN9A	coding, Haplotype	NM_002977.3:c.[2794A>C;2971G>T]	Yes	No
1102784	30731	-1	PRICKLE2	coding, Haplotype	NM_198859.3:c.[443G>A;457G>A]	Yes	No
1102785	30731	-1	PRICKLE2	genomic, Haplotype	NG_031930.1:g.[73137G>A;73151G>A]	No	No
455141	31662	-1	CYP21A2	genomic, Haplotype	NG_007941.2:g.[6500T>A;6503T>A;6509T>A]	No	No
455142	31662	-1	CYP21A2	coding, Haplotype	NM_000500.7:c.[710T>A;713T>A;719T>A]	Yes	No
571817	36924	-1	FCGR3B	coding, Haplotype	NM_000570.4:c.[108C=;194A>G;244A=;316A=]	Yes	No
571818	36924	-1	FCGR3B	genomic, Haplotype	NG_032926.1:g.[6975C=;7061A>G;7111A=;7183A=]	No	No
1328557	36946	-1	TERT	genomic, Haplotype	NG_009265.1:g.[27852G>A;33529G>A]	No	No
1328558	36946	-1	TERT	coding, Haplotype	NM_198253.2:c.[2371G>A;2599G>A]	Yes	No
634467	38336	-1	GLRA1	coding, CompoundHeterozygote	NM_001146040.1:c.[288G>T];[1030C>T]	Yes	No
634468	38336	-1	GLRA1	genomic, CompoundHeterozygote	NG_011764.1:g.[69864G>T];[100887C>T]	No	No
634469	38336	-1	GLRA1	coding, CompoundHeterozygote	NM_000171.3:c.[288G>T];[1030C>T]	Yes	No
634470	38337	-1	GLRA1	coding, CompoundHeterozygote	NM_000171.3:c.[298delC];[523A>G]	Yes	No
634471	38337	-1	GLRA1	genomic, CompoundHeterozygote	NG_011764.1:g.[69874delC];[73500A>G]	No	No
634472	38338	-1	GLRA1	genomic, CompoundHeterozygote	NG_011764.1:g.[78374G>A;107073G>A]	No	No
634473	38338	-1	GLRA1	coding, CompoundHeterozygote	NM_001146040.1:c.[839G>A;1283G>A]	Yes	No
1127856	38368	-1	PYGL	coding, Haplotype	NM_002863.3:c.[1964_1969invAAAAAG;1969+1_+4delGTAC]	Yes	No
1127857	38368	-1	PYGL	genomic, Haplotype	NG_012796.1:g.[37796_37801invAAAAAG;37802_37805delGTA]	No	No
299540	38562	-1	BTD	genomic, Haplotype	NG_008019.1:g.[38730_38736delGCGGCTGinsTCC;38844T>C]	No	No
299541	38562	-1	BTD	coding, Haplotype	NM_000060.2:c.[98_104delGCGGCTGinsTCC;212T>C]	Yes	No
299542	38563	-1	BTD	coding, Haplotype	NM_000060.2:c.[133G>A;865G>C]	Yes	No
299543	38563	-1	BTD	genomic, Haplotype	NG_008019.1:g.[38765G>A;47974G>C]	No	No
299544	38564	-1	BTD	genomic, Haplotype	NG_008019.1:g.[38844T>C;38868G>A]	No	No
299545	38564	-1	BTD	coding, Haplotype	NM_000060.2:c.[212T>C;236G>A]	Yes	No
299546	38565	-1	BTD	coding, Haplotype	NM_000060.2:c.[235C>T;1361A>C]	Yes	No
299547	38565	-1	BTD	genomic, Haplotype	NG_008019.1:g.[38867C>T;48470A>C]	No	No
299548	38566	-1	BTD	genomic, Haplotype	NG_008019.1:g.[38867C>T;47579G>A]	No	No
299549	38566	-1	BTD	coding, Haplotype	NM_000060.2:c.[235C>T;470G>A]	Yes	No
299555	38568	-1	BTD	coding, Haplotype	NM_000060.2:c.[470G>A;1330G>C]	Yes	No
299556	38568	-1	BTD	genomic, Haplotype	NG_008019.1:g.[47579G>A;48439G>C]	No	No
299567	38571	-1	BTD	genomic, Haplotype	NG_008019.1:g.[48280C>T;48443G>T]	No	No
299568	38571	-1	BTD	coding, Haplotype	NM_000060.2:c.[1171C>T;1334G>T]	Yes	No
638980	39093	-1	GNPTAB	coding, Haplotype	NM_024312.4:c.[2783A>G;2864C>T]]	Yes	No
638981	39093	-1	GNPTAB	genomic, Haplotype	NG_021243.1:g.[74172A>G;74253C>T]	No	No
638982	39094	-1	GNPTAB	genomic, Haplotype	NG_021243.1:g.[78610_78611insC;78614C>T]	No	No
638983	39094	-1	GNPTAB	coding, Haplotype	NM_024312.4:c.[3388_3389insC;3392C>T]	Yes	No
638984	39095	-1	GNPTAB	coding, Haplotype	NM_024312.4:c.[545T>A;614A>C]	Yes	No
638985	39095	-1	GNPTAB	genomic, Haplotype	NG_021243.1:g.[49830T>A;55289A>C]	No	No
363614	40200	-1	CFTR	genomic, Haplotype	NG_016465.1:g.[65343C>A;65347C>A]	No	No
363615	40200	-1	CFTR	coding, Haplotype	NM_000492.3:c.[1075C>A;1079C>A]	Yes	No
96536	41218	-1	AIP	coding, CompoundHeterozygote	NM_003977.2:c.[-270_-269delCGinsAA;-220G>A]	Yes	No
96537	41219	-1	AIP	coding, CompoundHeterozygote	NM_003977.2:c.[878_879AG>GT];[880_891delCTGGACCCAGCC]	Yes	No
110727	42138	-1	ALS2	coding, CompoundHeterozygote	NM_020919.2:c.[1825_1826insCAGTG];[3529G>T]	Yes	No
110728	42162	-1	ALS2	coding, CompoundHeterozygote	NM_020919.2:c.[3565delG];[3624+5G>C]	Yes	No
186515	51008	-1	B4GAT1	coding, Haplotype	NM_006876.2:[c.1168A>G;c.1217C>T]	Yes	No
1046230	55809	-1	PIEZO1	coding, Haplotype	NM_001142864.2:[c.3350C>T;c.6059C>T]	Yes	No
1046241	55813	-1	PIEZO1	coding, Haplotype	NM_001142864.2:c.[1848+31C>G;2344G>A;2423G>A]	Yes	No
1022103	60700	-1	PARK7	genomic, Haplotype	NG_008271.1:g.[5215_5232dup;28318G>A]	No	No
1022104	60700	-1	PARK7	coding, Haplotype	NM_007262.4:c.[-24+75_-24+92dup;487G>A]	Yes	No
436769	60702	-1	CPT2	coding, Haplotype	NM_000098.2:c.[1238_1239delAG;1342T>C]	Yes	No
436770	60702	-1	CPT2	genomic, Haplotype	NG_008035.1:g.[19484_19485delAG;19588T>C]	No	No
1399605	64881	-1	TSC2	coding, Haplotype	NM_000548.3:c.[3623_3647del;3745_3756dup]	Yes	No
1401771	65183	-1	TSC2	coding, Haplotype	NM_000548.3:c.[4621_4629del9;4621_4634ins14]	Yes	No
1402753	65324	-1	TSC2	coding, Haplotype	NM_000548.3:c.[4358_4359delCC; 4361_4372del12]	Yes	No
1402909	65347	-1	TSC2	coding, Haplotype	NM_000548.3:c.[976-20T>A;976-17_976-1dup]	Yes	No
934848	65392	-1	NANOS1	coding, Haplotype	NM_199461.2:c.[737G>A;826_827delinsTA]	Yes	No
455194	65613	-1	CYP21A2	coding, Haplotype	NM_000500.5:c.[701T>A;713T>A;719T>A]	Yes	No
849444	90463	-1	MLH1	genomic, Haplotype	LRG_216t1:c.[453+625_545+921delinsTG;545+1271_677+737delinsCA]	No	No
849445	90463	-1	MLH1	coding, Haplotype	NM_000249.3:c.[453+625_545+921delinsTG;545+1271_677+737delinsCA]	Yes	No
1308306	92124	-1	SYNE1	coding, Haplotype	NM_033071.3:c.[1985A>G;9283G>A]	Yes	No
1308307	92124	-1	SYNE1	genomic, Haplotype	NG_012855.1:g.[178914A>G;265957G>A]	No	No
404072	101229	-1	COL3A1	genomic, Haplotype	NG_007404.1:g.[27817C>T;40833G>A]	No	No
404073	101229	-1	COL3A1	coding, Haplotype	NM_000090.3:c.[1786C>T;3851G>A]	Yes	No
405085	101408	-1	COL3A1	coding, CompoundHeterozygote	NM_000090.3:c.[=/3426_3452del27];[=/3440_3466del27]	Yes	No
611842	126453	-1	GALT	coding, Haplotype	NM_000155.2:c.[-1039_753del;820+50_*789delinsGAATAGACCCCA	Yes	No
611843	140570	-1	GALT	coding, Haplotype	NM_000155.2:c.[940A>G;-119_-116delGTCA]	Yes	No
677491	156102	-1	HTRA1	coding, CompoundHeterozygote	NM_002775.4:c.[126delG];[961G>A]	Yes	No
677492	156102	-1	HTRA1	genomic, CompoundHeterozygote	NG_011554.1:g.[5254delG];[50350G>A]	No	No
155322	156118	-1	ASPM	genomic, CompoundHeterozygote	NG_015867.1:g.[50542C>T];[64729C>T]	No	No
155323	156118	-1	ASPM	coding, CompoundHeterozygote	NM_018136.4:c.[8098C>T];[10168C>T]	Yes	No
379163	156549	-1	CHRND	genomic, CompoundHeterozygote	NG_008028.1:g.[5338G>T];[13079A>G]	No	No
379164	156549	-1	CHRND	coding, CompoundHeterozygote	NM_000751.2:c.[73G>T];[1319A>G]	Yes	No
1465805	156589	-1	UBE3B	genomic, CompoundHeterozygote	NG_033898.1:g.[10930A>G];[37753delC]	No	No
1465806	156589	-1	UBE3B	coding, CompoundHeterozygote	NM_130466.3:c.[1A>G];[1773delC]	Yes	No
1225022	157525	-1	SETX	genomic, Phase unknown	NG_007946.1:g.[10616G>A(;)32197C>T]	No	No
1225023	157525	-1	SETX	coding, Phase unknown	NM_015046.5:c.[59G>A(;)3809C>T]	Yes	No
1090815	157526	-1	POLG	genomic, Phase unknown	NG_008218.1:g.[12790G>C(;)16370G>C]	No	No
1090816	157526	-1	POLG	coding, Phase unknown	NM_001126131.1:c.[1491G>C(;)2243G>C]	Yes	Current
1149914	157528	-1	REEP1	genomic, Distinct chromosomes	NG_013037.1:g.125983A>G NG_007946.1:g.31463_31464insTGA	No	No
1149915	157528	-1	REEP1	coding, Distinct chromosomes	NM_001164731.1:c.524A>G NM_015046.5:c.3075_3076insTGA	Yes	No
322444	157655	-1	CARS2	coding, CompoundHeterozygote	NM_024537.2:c.[649_651delGAG];[752C>T]	Yes	No
1159808	161981	-1	RMND1	coding, CompoundHeterozygote	NM_017909.3:c.[613G>T];[713A>G]	Yes	No
1159809	161981	-1	RMND1	genomic, CompoundHeterozygote	NG_033031.1:g.[20736G>T];[27028A>G]	No	No
442635	161983	-1	CSF3R	genomic, CompoundHeterozygote	NG_016270.1:g.[15622_15637del16];[16436delG]	No	No
442636	161983	-1	CSF3R	coding, CompoundHeterozygote	NM_000760.3:c.[948_963del16];[1245delG]	Yes	No
1475191	161994	-1	USP8	coding, Haplotype	NM_005154.3:c.[2138T>G;2150A>G]	Yes	Current
106189	162619	-1	ALG9	coding, Variant	NM_024740.2:c.[1173+2T>A];[1173+2T>A]	Yes	Current
456362	163020	-1	CYP2C9	coding, Haplotype	NM_000771.3:c.[430C=;1075A=]	Yes	Current
456363	163020	-1	CYP2C9	genomic, Haplotype	NG_008385.1:g.[8633C=;47639A=]	No	No
456364	163021	-1	CYP2C9	genomic, Haplotype	NG_008385.1:g.[8633C=;47639A>C]	No	No
456365	163021	-1	CYP2C9	coding, Haplotype	NM_000771.3:c.[430C=;1075A>C]	Yes	Current
456366	177709	-1	CYP2C9	coding, Haplotype	NM_000771.3:c.[430C>T;1075A=]	Yes	Current
456367	177709	-1	CYP2C9	genomic, Haplotype	NG_008385.1:g.[8633C>T;47639A=]	No	No
627348	177819	-1	GJB2	coding, Haplotype	NM_004004.5:c.[79G>A;341A>G]	Yes	Current
627349	177819	-1	GJB2	genomic, Haplotype	NG_008358.1:g.[8473G>A;8735A>G]	No	No
1428808	178839	-1	TTN	coding, Haplotype	NM_133378.4:c.[68689_68692delAACA;98315delG]	Yes	Current
1428809	178839	-1	TTN	genomic, Haplotype	NG_011618.3:g.[266064_266067delAACA;305207delG]	No	No
1429783	179465	-1	TTN	genomic, Haplotype	NG_011618.3:g.[228237A>G;228238A>T]	No	No
1429784	179465	-1	TTN	coding, Haplotype	NM_133378.4:c.[45418A>G;45419A>T]	Yes	Current
1024908	180130	-1	PCBD1	coding, Haplotype	NM_000281.3:c.[79G>T;263G>A]	Yes	No
1024909	180130	-1	PCBD1	genomic, Haplotype	NG_008646.1:g.[7931G>T;9783G>A]	No	No
368618	180222	-1	CHCHD10	coding, Haplotype	NM_213720.2:c.[43C>A ;172G>C]	Yes	No
368619	180222	-1	CHCHD10	genomic, Haplotype	NG_034223.1:g.[5381C>A;5510G>C]	No	No
1022181	180663	-1	PARN	coding, Phase unknown	NM_002582.3:c.[659+4_659+7delAGTA(;)863dupA]	Yes	Current
810747	189258	-1	MALT1	genomic, CompoundHeterozygote	NG_033893.1:g.[56704delC];[56661A>G]	No	No
810748	189258	-1	MALT1	coding, CompoundHeterozygote	NM_006785.3:c.[1060delC];[1019-2A>G]	Yes	Current
39962	189364	-1	-	genomic, Haplotype	NC_000012.11:g.[57906083C>T;57894189G>A]	No	Current
815228	189364	-1	MARS	coding, Haplotype	NM_004990.3:c.[1700C>T;1177G>A]	Yes	No
815229	189364	-1	MARS	genomic, Haplotype	NG_034077.1:g.[29348C>T;17454G>A]	No	No
39963	189366	-1	-	genomic, CompoundHeterozygote	NC_000012.11:g.[57906083C>T;57894189G>A];[57892346A>G]	No	Current
815234	189366	-1	MARS	genomic, CompoundHeterozygote	NG_034077.1:g.[29348C>T;17454G>A];[15611A>G]	No	No
815235	189366	-1	MARS	coding, CompoundHeterozygote	NM_004990.3:c.[1700C>T;1177G>A];[1031A>G]	Yes	No
147958	189391	-1	ARHGAP11A	coding, CompoundHeterozygote	NM_014783.4:c.[1355C>G];[932G>T]	Yes	No
592272	189607	-1	FOXG1	genomic, Phase unknown	NG_009367.1:g.[5762C>G(;)5843_5844delTCinsCT]	No	No
592273	189607	-1	FOXG1	coding, Phase unknown	NM_005249.4:c.[563C>G(;)644_645delTCinsCT]	Yes	Current
1463539	190216	-1	TYR	coding, CompoundHeterozygote	NM_000372.4:c.[139G>A];[1276_1282delATGGTTC]	Yes	Current
1463540	190216	-1	TYR	genomic, CompoundHeterozygote	NG_008748.1:g.[5221G>A];[111993_111999delATGGTTC]	No	No
40051	190218	-1	-	genomic, Haplotype	NC_000006.11:g.[129601216A>C;129823841T>C]	No	Current
759415	190218	-1	LAMA2	coding, Haplotype	NM_000426.3:c.[2461A>C;8282T>C]	Yes	No
40052	190221	-1	-	genomic, Haplotype	NC_000005.9:g.[225549G>C;240589A>G]	No	Current
937561	190227	-1	NBN	coding, CompoundHeterozygote	NM_002485.4:c.[842T>G];[1030C>T]	Yes	Current
621376	190336	-1	GFAP	coding, Haplotype	NM_002055.4:c.[236G>A;667G>C]	Yes	Current
621439	190352	-1	GFAP	coding, Haplotype	NM_002055.4:c.[988C>G;994G>A]	Yes	Current
1412213	190388	-1	TTC7A	genomic, Haplotype	NG_034143.1:g.[135201A>G;138915T>C]	No	No
1412214	190388	-1	TTC7A	coding, Haplotype	NM_001288953.1:c.[1715A>G;1912T>C]	Yes	No
40055	190411	-1	-	genomic, CompoundHeterozygote	NC_000018.9:g.[77733765C>A];[77748581_77748614del34]	Yes	Current
1461468	190411	-1	TXNL4A	genomic, CompoundHeterozygote	NG_042061.1:g.[65171G>T];[50322_50355del34]	No	No
1461469	190411	-1	TXNL4A	coding, CompoundHeterozygote	NM_001305563.1:c.[136G>T];[-60-10913_-60-10880del34]	No	No
40056	190412	-1	-	genomic, CompoundHeterozygote	NC_000018.9:g.[77748356G>A];[77748581_77748614del34]	Yes	Current
1461470	190412	-1	TXNL4A	coding, CompoundHeterozygote	NM_001305563.1:c.[-60-10655C>T];[-60-10913_-60-10880del34]	No	No
1461471	190412	-1	TXNL4A	genomic, CompoundHeterozygote	NG_042061.1:g.[50580C>T];[50322_50355del34]	No	No
40057	190414	-1	-	genomic, CompoundHeterozygote	NC_000018.9:g.[76854774_78077248del1222475];[77748581_77748614del34]	Yes	Current
40058	190415	-1	-	genomic, CompoundHeterozygote	NC_000018.9:g.[77748262delA];[77748581_77748614del34]	Yes	Current
1461477	190415	-1	TXNL4A	genomic, CompoundHeterozygote	NG_042061.1:g.[50674delT];[50322_50355del34]	No	No
1461478	190415	-1	TXNL4A	coding, CompoundHeterozygote	NM_001305563.1:c.[-60-10561delT];[-60-10913_-60-10880del34]	No	No
40059	190416	-1	-	genomic, CompoundHeterozygote	NC_000018.9:g.[77421290_77904990del483701];[77748581_77748614del34]	Yes	Current
40060	190417	-1	-	genomic, CompoundHeterozygote	NC_000018.9:g.[76841645_78077248del1235604];[77748581_77748614del34]	Yes	Current
40061	190418	-1	-	genomic, CompoundHeterozygote	NC_000018.9:g.[73376178_78077248del4701071];[77748581_77748614del34]	Yes	Current
40062	190419	-1	-	genomic, CompoundHeterozygote	NC_000018.9:g.[(?_77733783)_(77733853_77737598)del];[77748581_77748614del34]	Yes	Current
350627	190420	-1	CDK5RAP2	genomic, CompoundHeterozygote	NG_008999.1:g.[145734A>G];[34342G>C]	No	No
350628	190420	-1	CDK5RAP2	coding, CompoundHeterozygote	NM_018249.5:c.[3695A>G];[280G>C]	Yes	Current
40167	202166	-1	-	genomic, Haplotype	NC_000001.11:g.[25301061C>G;25301552T>G;25301629C>T;25306613G>A;25306681T>C;25306719G>A]	No	Current
1157815	202166	-1	RHD	coding, Haplotype	NM_016124.4:c.[602C>G;667T>G;744C>T;957G>A;1025T>C;1063G>A]	Yes	No
40168	202177	-1	-	genomic, CompoundHeterozygote	NC_000001.10:g.[215853685C>T];[216373413A>G]	No	Current
1474196	202177	-1	USH2A	genomic, CompoundHeterozygote	NG_009497.1:g.[748054G>A];[228326T>C]	No	No
1474197	202177	-1	USH2A	coding, CompoundHeterozygote	NM_206933.2:c.[12100G>A];[3367T>C]	Yes	No
40169	202179	-1	-	genomic, CompoundHeterozygote	NC_000002.11:g.[238258810delG];[238270479C>T]	Yes	Current
425395	202179	-1	COL6A3	coding, CompoundHeterozygote	NM_004369.3:c.[6859delC];[6064-5G>A]	Yes	No
425396	202179	-1	COL6A3	genomic, CompoundHeterozygote	NG_008676.1:g.[69041delC];[57372G>A]	No	No
40170	202183	-1	-	genomic, CompoundHeterozygote	NC_000001.10:g.[100330092T>A];[100341011G>A]	No	Current
90710	202183	-1	AGL	coding, CompoundHeterozygote	NM_000642.2:c.[611T>A];[1283G>A]	Yes	No
90711	202183	-1	AGL	genomic, CompoundHeterozygote	NG_012865.1:g.[19453T>A];[30372G>A]	No	No
40171	202187	-1	-	genomic, CompoundHeterozygote	NC_000022.10:g.[38511626C>T];[38522454delG]	Yes	Current
1057135	202187	-1	PLA2G6	coding, CompoundHeterozygote	NM_003560.2:c.[1351delC];[1942G>A]	Yes	No
1057136	202187	-1	PLA2G6	genomic, CompoundHeterozygote	NG_007094.1:g.[60308delC];[71136G>A]	No	No
40172	202189	-1	-	genomic, CompoundHeterozygote	NC_000016.9:g.[74808495_74808504dupCCTGGCCCGC];[74808537G>T]	No	Current
549965	202189	-1	FA2H	genomic, CompoundHeterozygote	NG_017070.1:g.[5226_5235dupGCGGGCCAGG];[5193C>A]	No	No
549966	202189	-1	FA2H	coding, CompoundHeterozygote	NM_024306.4:c.[150_159dupGCGGGCCAGG];[117C>A]	Yes	No
40173	202195	-1	-	genomic, CompoundHeterozygote	NC_000015.9:g.[68500577_68500585delCCAGGCGAC];[68504037_68504039delGAT]	No	Current
387875	202195	-1	CLN6	coding, CompoundHeterozygote	NM_017882.2:c.[460_462delATC];[829_837delGTCGCCTGG]	Yes	No
387876	202195	-1	CLN6	genomic, CompoundHeterozygote	NG_008764.2:g.[50511_50513delATC];[53965_53973delGTCGCCTGG]	No	No
40174	202199	-1	-	genomic, CompoundHeterozygote	NC_000005.9:g.[118792015G>T];[118829592G>T]	No	Current
674247	202199	-1	HSD17B4	coding, CompoundHeterozygote	NM_000414.3:c.[64G>T];[819G>T]	Yes	No
674248	202199	-1	HSD17B4	genomic, CompoundHeterozygote	NG_008182.1:g.[8868G>T];[46445G>T]	No	No
40175	202201	-1	-	genomic, CompoundHeterozygote	NC_000004.11:g.[15601250_15601251delCT];[15589466_15589468delGAA]	No	Current
331352	202201	-1	CC2D2A	coding, CompoundHeterozygote	NM_001080522.2:c.[4093_4095delGAA];[4595_4596delCT]	Yes	No
331353	202201	-1	CC2D2A	genomic, CompoundHeterozygote	NG_013035.1:g.[122978_122980delGAA];[134762_134763delCT]	No	No
716323	203434	-1	KCNH1	coding, Haplotype	NM_002238.3:c.[1066G>C;974C>A]	Yes	No
768117	203992	-1	LARS2	coding, CompoundHeterozygote	NM_015340.3:c.[899C>T];[1912G>A]	Yes	No
93994	204181	-1	AGXT	coding, Haplotype	NM_000030.2:c.[299_307dup;308G>A]	Yes	Current
94079	204202	-1	AGXT	coding, Haplotype	NM_000030.2:c.[829_830insA;830C>A]	Yes	Current
644744	204246	-1	GRHPR	coding, Haplotype	NM_012203.1:c.[84-8_84-5delCCCC;84-13_84-12delCC]	Yes	Current
368634	204293	-1	CHCHD10	coding, Haplotype	NM_001301339.1:c.[43C>G;172G>C]	Yes	Current
1128879	207839	-1	PZP	coding, CompoundHeterozygote	NM_002864.2:c.[3325G>A];[1504G>A]	Yes	Current
333244	207840	-1	CCDC168	coding, CompoundHeterozygote	NM_001146197.1:c.[9652A>G];[3838G>A]	Yes	Current
1466392	207841	-1	UBR5	coding, CompoundHeterozygote	NM_015902.5:c.[5837A>G];[3752G>A]	Yes	Current
859618	208147	-1	MPZ	coding, Haplotype	NM_000530.6:c.[241C>T;337G>T]	Yes	Current
40379	208474	-1	-	genomic, Haplotype	NC_000001.11:g.[25301061C>G;25301552T>G;25301582G>C;25301618G>C;25301629C>T;25375385C>T]	No	Current
40382	208488	-1	-	genomic, CompoundHeterozygote	NC_000022.10:g.[40760969G>A;40757623G>C]	Yes	Current
88887	208488	-1	ADSL	genomic, CompoundHeterozygote	NG_007993.1:g.[23466G>A;20120G>C]	No	No
88888	208488	-1	ADSL	coding, CompoundHeterozygote	NM_000026.2:c.[1277G>A;994G>C]	Yes	No
40383	208495	-1	-	genomic, CompoundHeterozygote	NC_000003.11:g.[33060002G>A;33065789G>T]	No	Current
630069	208495	-1	GLB1	genomic, CompoundHeterozygote	NG_009005.1:g.[83693C>T;77906C>A]	No	No
630070	208495	-1	GLB1	coding, CompoundHeterozygote	NM_000404.2:c.[1285C>T;1097C>A]	Yes	No
40384	208497	-1	-	genomic, CompoundHeterozygote	NC_000006.11:g.[39880653C>T;39877666G>A]	No	Current
857022	208497	-1	MOCS1	genomic, CompoundHeterozygote	NG_009297.1:g.[26602G>A;29589C>T]	No	No
857023	208497	-1	MOCS1	coding, CompoundHeterozygote	NM_001075098.3:c.[853G>A;c.1015C>T]	Yes	No
837602	208908	-1	METTL1	coding, Variant	NM_005371.5:c.542T>C	Yes	No
1156438	208909	-1	RFX1	coding, Variant	NM_002918.4:c.[2695G>A];[2695G>A]	Yes	Current
1495263	208910	-1	WDR62	coding, Variant	NM_001083961.1:c.[2030T>C];[2030T>C]	Yes	Current
1495264	208910	-1	WDR62	coding, Variant	NM_001083961.1:c.2030T>C	Yes	No
382742	208912	-1	CLC	coding, Variant	NM_001828.5:c.[389T>G];[389T>G]	Yes	Current
382743	208912	-1	CLC	coding, Variant	NM_001828.5:c.389T>G	Yes	No
513122	208913	-1	DYRK1B	coding, Variant	NM_006484.1:c.625G>A	Yes	No
513123	208913	-1	DYRK1B	coding, Variant	NM_006484.1:c.[625G>A];[625G>A]	Yes	Current
832941	208914	-1	MEIS3	coding, Variant	NM_020160.2:c.202C>A	Yes	No
832942	208914	-1	MEIS3	coding, Variant	NM_020160.2:c.[202C>A];[202C>A]	Yes	Current
154619	208919	-1	ASNS	coding, CompoundHeterozygote	NM_133436.3:c.[1439C>T];[1648C>T]	Yes	Current
154620	208919	-1	ASNS	genomic, CompoundHeterozygote	NG_033870.1:g.[24446C>T];[25246C>T]	No	No
1485769	208933	-1	VPS13B	coding, CompoundHeterozygote	NM_017890.4:c.[6370_6371delAT];[3582delT]	Yes	Current
1485770	208933	-1	VPS13B	genomic, CompoundHeterozygote	NG_007098.2:g.[691508_691509delAT];[459285delT]	No	No
1151104	208940	-1	RELN	coding, CompoundHeterozygote	NM_005045.3:c.[9427T>G];[2213G>A]	Yes	Current
1151105	208940	-1	RELN	genomic, CompoundHeterozygote	NG_011877.1:g.[502548T>G];[358192G>A]	No	No
1348382	208953	-1	TMX2	coding, CompoundHeterozygote	NM_015959.3:c.[691C>T];[326A>G]	Yes	Current
1495265	208961	-1	WDR62	genomic, CompoundHeterozygote	NG_028101.1:g.[52940C>T]; 47194C>T]	No	No
1495266	208961	-1	WDR62	coding, CompoundHeterozygote	NM_001083961.1:c.[3304C>T];[2515C>T]	Yes	Current
1189197	208970	-1	SCN10A	coding, CompoundHeterozygote	NM_006514.2:c.[2530C>T];[597G>T]	Yes	Current
1189198	208970	-1	SCN10A	genomic, CompoundHeterozygote	NG_031891.2:g.[70359C>T];[27730G>T]	No	No
1496333	208973	-1	WDR73	coding, CompoundHeterozygote	NM_032856.2:c.[293T>C];[333delG]	Yes	Current
1496334	208973	-1	WDR73	genomic, CompoundHeterozygote	NG_042034.1:g.[11395T>C];[11435delG]	No	No
560767	208976	-1	FAT2	coding, CompoundHeterozygote	NM_001447.2:c.[2773T>C];[930T>G]	Yes	Current
367742	209047	-1	CFTR	coding, Haplotype	NM_000492.3:c.[350G>A;1210-12[5]]	Yes	Current
40462	212790	-1	-	genomic, CompoundHeterozygote	NC_000016.10:g.[2496486C>A];[2496624T>C]	No	No
1319106	212790	-1	TBC1D24	coding, CompoundHeterozygote	NM_020705.2:c.[338C>A];[476T>C]	Yes	No
1319107	212790	-1	TBC1D24	coding, CompoundHeterozygote	NM_020705.2:[c.338C>A];[c.476T>C]	Yes	Current
59028	216882	-1	ABCA4	coding, CompoundHeterozygote	NM_000350.2:c.[5882G>A];[2588G>C]	Yes	Current
67947	216883	-1	ACAD9	coding, CompoundHeterozygote	NM_014049.4:c.[359delT];[1846C>T]	Yes	Current
80260	216886	-1	ADA	coding, CompoundHeterozygote	NM_000022.2:c.[986C>T];[780+1G>A]	Yes	Current
94753	216887	-1	AHI1	coding, CompoundHeterozygote	NM_017651.4:c.[3368C>T];[2561G>T]	Yes	Current
121504	216889	-1	ANO5	coding, CompoundHeterozygote	NM_213599.2:c.[155A>G];[191dupA]	Yes	Current
180159	216892	-1	ATP7B	coding, CompoundHeterozygote	NM_000053.3:c.[3809A>G];[2950C>G]	Yes	Current
185603	216893	-1	B3GALNT2	coding, CompoundHeterozygote	NM_152490.2:c.[1438_1455dupGAACTGACGGAACTGTGG];[979G>A]	Yes	Current
320808	216898	-1	CAPN3	coding, CompoundHeterozygote	NM_000070.2:c.[319G>T];[1319G>A]	Yes	Current
360198	216900	-1	CERKL	coding, CompoundHeterozygote	NM_201548.4:c.[769C>T];[674A>T]	Yes	Current
388625	216905	-1	CLN8	coding, CompoundHeterozygote	NM_018941.3:c.[212C>T];[562_563delCT]	Yes	Current
389659	216906	-1	CNGA1	coding, CompoundHeterozygote	NM_000087.3:c.[959C>T];[652C>T]	Yes	Current
390788	216907	-1	CNGB3	coding, CompoundHeterozygote	NM_019098.4:c.[1208G>A];[1193A>G]	Yes	Current
468665	216918	-1	DHTKD1	coding, CompoundHeterozygote	NM_018706.5:c.[2143C>T];[2185G>A]	Yes	Current
495872	216920	-1	DOK7	coding, CompoundHeterozygote	NM_173660.4:c.[1263delC];[1263dupC]	Yes	Current
514177	216922	-1	DYSF	coding, CompoundHeterozygote	NM_003494.3:c.[3516_3517delTT];[5078G>A]	Yes	Current
514178	216923	-1	DYSF	coding, CompoundHeterozygote	NM_003494.3:c.[2643+1G>A];[4577A>C]	Yes	Current
539420	216925	-1	ETFDH	coding, CompoundHeterozygote	NM_004453.2:c.[1367C>T];[1487T>C]	Yes	Current
550270	216928	-1	FADD	coding, CompoundHeterozygote	NM_003824.3:c.[52_58delAGCGAGC];[313T>C]	Yes	Current
619526	216933	-1	GDAP1	coding, CompoundHeterozygote	NM_018972.2:c.[62delA];[347T>C]	Yes	Current
630071	216935	-1	GLB1	coding, CompoundHeterozygote	NM_000404.2:c.[367G>A];[245C>T]	Yes	Current
640771	216938	-1	GOSR2	coding, CompoundHeterozygote	NM_004287.3:c.[336+1G>A];[430G>T]	Yes	Current
674082	216940	-1	HSD17B3	coding, CompoundHeterozygote	NM_000197.1:c.[239G>A];[194C>T]	Yes	Current
685546	216943	-1	IGHMBP2	coding, CompoundHeterozygote	NM_002180.2:c.[92G>A];[660A>C]	Yes	Current
700533	216944	-1	ITGA2B	coding, CompoundHeterozygote	NM_000419.3:c.[1787T>C];[439C>G]	Yes	Current
759658	216956	-1	LAMA2	coding, CompoundHeterozygote	NM_000426.3:c.[523G>T];[2049_2050delAG]	Yes	Current
788873	216957	-1	LIPT1	coding, CompoundHeterozygote	NM_145199.2:c.[806G>A];[980T>G]	Yes	Current
831764	216960	-1	MEFV	coding, CompoundHeterozygote	NM_000243.2:c.[2230G>T];[2084A>G]	Yes	Current
861837	216964	-1	MRE11	coding, CompoundHeterozygote	NM_005591.3:c.[497C>T];[168G>T]	Yes	Current
893267	216966	-1	MUT	coding, CompoundHeterozygote	NM_000255.3:c.[1891delG];[322C>T]	Yes	Current
982197	216973	-1	NPC1	coding, CompoundHeterozygote	NM_000271.4:c.[3234_3237dupATTT];[2213C>A]	Yes	Current
1007679	216980	-1	OTOF	coding, CompoundHeterozygote	NM_194248.2:c.[5098G>C];[3928_3930dupAAG]	Yes	Current
1091551	216983	-1	POLG	coding, CompoundHeterozygote	NM_002693.2:c.[2554C>T];[32G>A]	Yes	Current
1093744	216984	-1	POLR3A	coding, CompoundHeterozygote	NM_007055.3:c.[2554A>G];[367_369delAAG]	Yes	Current
1094260	216985	-1	POLR3B	coding, CompoundHeterozygote	NM_018082.5:c.[1568T>A];[1988C>T]	Yes	Current
1141748	216989	-1	RAPSN	coding, CompoundHeterozygote	NM_005055.4:c.[829A>G];[524A>G]	Yes	Current
1171386	216994	-1	RTEL1	coding, CompoundHeterozygote	NM_032957.4:c.[1346T>C];[3028C>T]	Yes	Current
1184224	216995	-1	SACS	coding, CompoundHeterozygote	NM_014363.4:c.[11624G>A];[7276C>T]	Yes	Current
1225056	216997	-1	SETX	coding, CompoundHeterozygote	NM_015046.5:c.[7149_7151delinsAT];[6106G>A]	Yes	Current
1239792	216998	-1	SLC12A1	coding, CompoundHeterozygote	NM_000338.2:c.[735C>G];[1522G>A	Yes	Current
1258257	217000	-1	SLC45A2	coding, CompoundHeterozygote	NM_016180.3:c.[1454T>C];[264delC]	Yes	Current
1287594	217005	-1	SPG7	coding, CompoundHeterozygote	NM_003119.2:c.[1529C>T];[2120delinsCCAAGTCTGTA]	Yes	Current
1309234	217009	-1	SYNE1	coding, CompoundHeterozygote	NM_033071.3:c.[9646A>T];[4482+1G>T]	Yes	Current
1309235	217010	-1	SYNE1	coding, CompoundHeterozygote	NM_033071.3:c.[20050C>T];[7938G>A]	Yes	Current
1319108	217013	-1	TBC1D24	coding, CompoundHeterozygote	NM_020705.2:c.[1218G>C];[1270T>C]	Yes	Current
1408938	217020	-1	TSFM	coding, CompoundHeterozygote	NM_001172696.1:c.[355G>C];[997C>T]	Yes	Current
1441706	217021	-1	TTN	coding, CompoundHeterozygote	NM_133378.4:c.[52301A>G];[38532C>A]	Yes	Current
1441707	217022	-1	TTN	coding, CompoundHeterozygote	NM_133378.4:c.[99250C>T];[98049dupA]	Yes	Current
959468	217112	-1	NF1	genomic, CompoundHeterozygote	NG_009018.1:g.[160934_261201dup;160941delA]	Yes	No
959469	217112	-1	NF1	coding, CompoundHeterozygote	NM_000267.3:c.[4110+1791_7394+859dup;4110+1798del]	Yes	Current
626194	217331	-1	GJA8	coding, Variant	NM_005267.4:c.[89dupT];[89dupT]	Yes	Current
441349	217348	-1	CRYBB2	coding, Haplotype	NM_000496.2:c.[343C>A;355G>A]	Yes	Current
200142	217356	-1	BFSP1	coding, CompoundHeterozygote	NM_001195.4:c.[1492del];[812T>C]	Yes	Current
590930	217371	-1	FMO3	coding, Haplotype	NM_006894.4:c.[472G>A;560T>C]	Yes	Current
40556	217510	-1	-	genomic, Haplotype	NC_000002.10:g.[51151955_51190352del38398;51440969_51481281del40313]	Yes	No
67948	217737	-1	ACAD9	genomic, CompoundHeterozygote	NG_017064.1:g.[31731C>T];[128904385G>T]	No	No
67949	217737	-1	ACAD9	coding, CompoundHeterozygote	NM_014049.4:c.[1249C>T];[1030-1G>T]	Yes	Current
40557	217738	-1	-	genomic, CompoundHeterozygote	NC_000003.12:g.[128879693T>G];[128904118T>G]	No	No
67950	217738	-1	ACAD9	coding, CompoundHeterozygote	NM_014049.4:c.[2T>G];[1015T>G]	Yes	Current
67951	217739	-1	ACAD9	coding, CompoundHeterozygote	NM_014049.4:c.[359delT];[1594C>T]	Yes	Current
67952	217739	-1	ACAD9	genomic, CompoundHeterozygote	NG_017064.1:g.[20833delT];[35562C>T]	No	No
67953	217740	-1	ACAD9	genomic, CompoundHeterozygote	NG_017064.1:g.[29590G>A];[128910052G>A]	No	No
67954	217740	-1	ACAD9	coding, CompoundHeterozygote	NM_014049.4:c.[976G>A];[1595G>A]	Yes	Current
67955	217741	-1	ACAD9	coding, CompoundHeterozygote	NM_014049.4:c.[151-2A>G];[1298G>A]	Yes	Current
67956	217742	-1	ACAD9	coding, CompoundHeterozygote	NM_014049.4:c.[1237G>A];[1552C>T]	Yes	Current
67957	217743	-1	ACAD9	coding, CompoundHeterozygote	NM_014049.4:c.[1552C>T];[1564-6_1569del]	Yes	Current
67958	217744	-1	ACAD9	coding, CompoundHeterozygote	NM_014049.4:c.[1A>G];[796C>T]	Yes	Current
40564	217876	-1	-	genomic, Haplotype	NC_000001.10:g.[227173033G>A;227170697C>T]	No	Current
40565	217879	-1	-	genomic, Haplotype	NC_000002.11:g.[202611376G>T;202574623G>A]	Yes	Current
40566	217883	-1	-	genomic, Haplotype	NC_000007.13:g.[87072999G>C;87082365C>T]	Yes	Current
40567	217885	-1	-	genomic, Haplotype	NC_000012.11:g.[103271835C>A;103246681G>A]	No	Current
40568	217887	-1	-	genomic, Haplotype	NC_000008.10:g.[1719428C>T;1728664C>G]	No	Current
40573	218155	-1	-	genomic, CompoundHeterozygote	NC_000011.10:g.[6393898A>G];[6393981C>T]	No	No
1277004	218155	-1	SMPD1	coding, CompoundHeterozygote	NM_000543.4:c.[1343A>G];[1426C>T]	Yes	Current
40574	218321	-1	-	genomic, CompoundHeterozygote	NC_000001.11:g.[11948035C>T];[11974699C>T]	No	No
1068920	218321	-1	PLOD1	coding, CompoundHeterozygote	NM_000302.3:c.[136C>T];[2075C>T]	Yes	No
1068921	218321	-1	PLOD1	genomic, CompoundHeterozygote	NG_008159.1:g.[18347C>T];[45011C>T]	No	No
542069	218894	-1	EXT2	coding, Haplotype	NM_207122.1:c.[260T>G;283C>T]	Yes	No
1257644	218898	-1	SLC39A8	coding, Haplotype	NM_022154.5:c.[97G>A;1004G>C]	Yes	No
40577	218900	-1	-	genomic, CompoundHeterozygote	NC_000001.11:g.[45507545dupA];[45508848G>A]	No	No
855595	218900	-1	MMACHC	genomic, CompoundHeterozygote	NG_013378.1:g.[12362dupA];[13665G>A]	No	No
855596	218900	-1	MMACHC	coding, CompoundHeterozygote	NM_015506.2:c.[482G>A];[271dupA]	Yes	Current
855597	218900	-1	MMACHC	coding, CompoundHeterozygote	NM_015506.2:[c.271dupA];[c.482G>A]	Yes	No
40578	218916	-1	-	genomic, CompoundHeterozygote	NC_000004.12:g.[102344551C>G];[102267901A>T]	No	No
1257645	218916	-1	SLC39A8	coding, CompoundHeterozygote	NM_022154.5:c.[112G>C];[1019T>A]	Yes	Current
40579	218917	-1	-	genomic, CompoundHeterozygote	NC_000004.12:g.[102344566C>T;102267916C>G];[102305054C>A]	No	No
1257646	218917	-1	SLC39A8	coding, CompoundHeterozygote	NM_022154.5:c.[97G>A;1004G>C];[610G>T]	Yes	Current
40584	219014	-1	-	genomic, CompoundHeterozygote	NC_000016.10:g.[30186647_30186648delCT];[30188373delC]	No	No
432994	219014	-1	CORO1A	coding, CompoundHeterozygote	NM_007074.3:c.[248_249delCT];[1078delC]	Yes	No
432995	219014	-1	CORO1A	genomic, CompoundHeterozygote	NG_023415.1:g.[8043_8044delCT];[9769delC]	No	No
639824	219104	-1	GNRHR	coding, CompoundHeterozygote	NM_000406.2:c.[416G>A];[806C>T]	Yes	No
40645	219354	-1	-	genomic, Haplotype	NC_000014.9:g.[94381049G>A;94383051G>A]	No	Current
1221548	219354	-1	SERPINA1	coding, Haplotype	NM_001127701.1:c.[187C>T;739C>T]	Yes	No
1221549	219354	-1	SERPINA1	genomic, Haplotype	NG_008290.1:g.[12642C>T;14644C>T]	No	No
40658	221203	-1	-	genomic, Haplotype	NC_000023.11:g.[149482996C>T;149483005T>A]	No	No
679597	221203	-1	IDS	coding, Haplotype	NM_000202.6:c.[1403G>A;1394A>T]	Yes	Current
40659	221279	-1	-	genomic, CompoundHeterozygote	NC_000011.10:g.[66851168C>A];[66851168C>T]	No	No
1024592	221279	-1	PC	coding, CompoundHeterozygote	NM_022172.2:c.[2095G>T];[2095G>A]	Yes	No
408737	222050	-1	COL4A3	coding, CompoundHeterozygote	NM_000091.4:c.[687G>A];[3490G>T]	Yes	Current
408738	222050	-1	COL4A3	genomic, CompoundHeterozygote	NG_011591.1:g.[93773G>A];[135471G>T]	No	No
409520	222054	-1	COL4A4	coding, CompoundHeterozygote	NM_000092.4:c.[2320G>C];[1320_1369+2del]	Yes	Current
409521	222054	-1	COL4A4	genomic, CompoundHeterozygote	NG_011592.1:g.[110092G>C];[75386_75437del52]	No	No
1342333	222472	-1	TMEM199	coding, CompoundHeterozygote	NM_152464.2:c.40G>C;376-1G>A	Yes	No
788032	222901	-1	LIMS2	genomic, Haplotype	NG_042235.1:g.[32280C>G;32294C>T]	No	No
788033	222901	-1	LIMS2	coding, Haplotype	NM_001161404.1:c.[261C>G;275C>T]	Yes	No
702206	223391	-1	ITGB2	coding, CompoundHeterozygote	NM_000211.4:c.[576dupC];[706G>A]	Yes	No
702207	223391	-1	ITGB2	genomic, CompoundHeterozygote	NG_007270.2:g.[32182dupC];[32312G>A]	No	No
124183	224506	-1	AP4E1	coding, Haplotype	NM_007347.4:c.[1549G>A;2401G>A]	Yes	No
41211	224659	-1	-	genomic, CompoundHeterozygote	NC_000015.9:g.[42652226dupT];[42678424C>T]	No	No
320880	224659	-1	CAPN3	genomic, CompoundHeterozygote	NG_008660.1:g.[16926dupT];[43124C>T]	No	No
320881	224659	-1	CAPN3	coding, CompoundHeterozygote	NM_000070.2:c.[223dupT];[439C>T]	Yes	No
41212	224660	-1	-	genomic, CompoundHeterozygote	NC_000019.10:g.[38496466C>T];[38580503C>T]	Yes	No
1177091	224660	-1	RYR1	genomic, CompoundHeterozygote	NG_008866.1:g.[67767C>T];[151804C>T]	No	No
1177092	224660	-1	RYR1	coding, CompoundHeterozygote	NM_000540.2:c.[6721C>T];[14645C>T]	Yes	Current
41213	224661	-1	-	genomic, CompoundHeterozygote	NC_000006.12:g.[129481381T>C];[129516231C>T]	No	No
759671	224661	-1	LAMA2	genomic, CompoundHeterozygote	NG_008678.1:g.[603241T>C];[638091C>T]	No	No
759672	224661	-1	LAMA2	coding, CompoundHeterozygote	NM_000426.3:c.[7691T>C];[9253C>T]	Yes	Current
41214	224662	-1	-	genomic, CompoundHeterozygote	NC_000014.9:g.[77286815G>A];[77291326_77291327delTA]	No	No
1096690	224662	-1	POMT2	coding, CompoundHeterozygote	NM_013382.5:c.[1170_1171del];[1261C>T]	Yes	No
41215	224663	-1	-	genomic, CompoundHeterozygote	NC_000019.10:g.[38458154C>T];[38580382G>A]	Yes	No
1177093	224663	-1	RYR1	coding, CompoundHeterozygote	NM_000540.2:c.[2029C>T];[14524G>A]	Yes	Current
1177094	224663	-1	RYR1	genomic, CompoundHeterozygote	NG_008866.1:g.[29455C>T];[151683G>A]	No	No
41216	224664	-1	-	genomic, CompoundHeterozygote	NC_000002.12:g.[71568083G>A];[71570680G>A]	Yes	No
514217	224664	-1	DYSF	coding, CompoundHeterozygote	NM_003494.3:c.[2643+1G>A];[3113G>A]	Yes	Current
514218	224664	-1	DYSF	genomic, CompoundHeterozygote	NG_008694.1:g.[119461G>A];[122058G>A]	No	No
41217	224668	-1	-	genomic, CompoundHeterozygote	NC_000002.12:g.[151650316C>T];[151646140_151646143del]	Yes	No
946865	224668	-1	NEB	coding, CompoundHeterozygote	NM_001271208.1:c.[7291G>A];[c.7523_7526del]	Yes	No
41218	224669	-1	-	genomic, CompoundHeterozygote	NC_000002.12:g.[178651450T>C];[178634722C>G]	Yes	No
1442777	224669	-1	TTN	coding, CompoundHeterozygote	NM_001267550.2:c.[39547+3A>G];[42151+1G>C]	Yes	No
1442778	224669	-1	TTN	genomic, CompoundHeterozygote	NG_011618.3:g.[184353A>G];[201081G>C]	No	No
1442779	224670	-1	TTN	coding, CompoundHeterozygote	NM_001267550.1:c.[42315_42318del];[67349-2A>C]	Yes	Current
1442780	224671	-1	TTN	coding, CompoundHeterozygote	NM_001267550.2:c.[106531+2T>A];[107867del]	Yes	No
581898	224674	-1	FKRP	coding, Phase unknown	NM_001039885.2:c.[74C>A(;)76_77del(;)826C>A]	Yes	Current
1442781	224675	-1	TTN	coding, CompoundHeterozygote	NM_001267550.2:c.[32471-1G>A];[55732+5G>C]	Yes	No
1442782	224676	-1	TTN	coding, CompoundHeterozygote	NM_001267550.2:c.[62722C>T];[102956_102958del]	Yes	No
701523	224686	-1	ITGA7	coding, CompoundHeterozygote	NM_001144996.1:c.[1011-4A>G];[2752C>T]	Yes	No
1442813	224698	-1	TTN	coding, CompoundHeterozygote	NM_133378.4:c.[37895C>G];[106154A>C]	Yes	No
1442821	224700	-1	TTN	coding, CompoundHeterozygote	NM_001267550.2:c.[14217A>C];[84105A>T]	Yes	No
1442826	224706	-1	TTN	coding, CompoundHeterozygote	NM_001256850.1:c.[41464G>A];[75050T>C]	Yes	No
1442834	224708	-1	TTN	coding, CompoundHeterozygote	NM_001256850.1:c.[78392A>T];[91762G>A]	Yes	No
1037898	224889	-1	PER3	coding, Haplotype	NM_001289862.1:c.[1243C>G;1250A>G]	Yes	No
986624	225143	-1	NPHS2	coding, Haplotype	NM_014625.3:c.[-52C>G(;)-51G>T]	Yes	Current
986625	225143	-1	NPHS2	genomic, Haplotype	NG_007535.1:g.[5034C>G(;)5035G>T]	No	No
59037	225694	-1	ABCA4	coding, Haplotype	NM_000350.2:c.[302+68C>T;4539+2028C>T]	Yes	Current
324431	228471	-1	CASQ2	coding, Haplotype	NM_001232.3:c.[730C>T;731A>G]	Yes	Current
748274	228777	-1	KLHL40	coding, Haplotype	NM_152393.3:c.[1849T>C;1850G>A]	Yes	No
931275	229030	-1	MYOM1	coding, Haplotype	NM_003803.3:c.[64_66delGTGinsCTC;65T>G]	Yes	No
1009060	229122	-1	OTOGL	coding, Haplotype	NM_173591.3:c.[6220A>G;6221T>C]	Yes	Current
517049	235817	-1	ECEL1	coding, Haplotype	NM_004826.3:c.[1252C>T;590G>A]	Yes	No
517050	235818	-1	ECEL1	coding, Haplotype	NM_004826.3:c.[1184+3A>T;1252C>A]	Yes	No
517056	235820	-1	ECEL1	coding, Haplotype	NM_004826.3:c.[797_801delATGGGinsGCT;869A>G]	Yes	No
517057	235821	-1	ECEL1	coding, Haplotype	NM_004826.3:c.[344_355delACCTGGACGCCA;716dupA]	Yes	No
695086	235822	-1	INPPL1	coding, Haplotype	NM_001567.3:c.[24_39del16;753G>C]	Yes	No
695087	235823	-1	INPPL1	coding, Haplotype	NM_001567.3:c.[1687_1691delACCTC;35dupG]	Yes	No
695092	235825	-1	INPPL1	coding, Haplotype	NM_001567.3:c.[2415+1G>A;768_769delAG]	Yes	No
1340930	236043	-1	TMC1	coding, CompoundHeterozygote	NM_138691.2:c.[1810C>T];[674C>T]	Yes	No
797645	236045	-1	LOXHD1	coding, CompoundHeterozygote	NM_144612.6:c.[4480C>T];[4714C>T]	Yes	Current
1007782	236047	-1	OTOF	coding, CompoundHeterozygote	NM_194248.2:c.[4227+1G>T];[5193-1G>A]	Yes	Current
929995	236052	-1	MYO7A	coding, CompoundHeterozygote	NM_000260.3:c.[1969C>T];[29T>C]	Yes	No
925113	236054	-1	MYO15A	coding, CompoundHeterozygote	NM_016239.3:c.[373_374delCG];[8183G>A]	Yes	Current
1340931	236055	-1	TMC1	coding, CompoundHeterozygote	NM_138691.2:c.[1810C>T];[1939T>C]	Yes	Current
1340932	236056	-1	TMC1	coding, CompoundHeterozygote	NM_138691.2:c.[1165C>T];[1939T>C]	Yes	Current
1340933	236057	-1	TMC1	coding, CompoundHeterozygote	NM_138691.2:c.[1210T>C];[1939T>C]	Yes	Current
1474489	236060	-1	USH2A	coding, CompoundHeterozygote	NM_206933.2:c.[240_241insGTAC];[3368A>G]	Yes	Current
1251438	236064	-1	SLC26A4	coding, CompoundHeterozygote	NM_000441.1:c.[349C>T];[578C>T]	Yes	Current
1303479	236066	-1	STRC	coding, CompoundHeterozygote	NM_153700.2:c.[4057C>T];[4171C>G]	Yes	Current
59039	236068	-1	ABCA4	coding, Haplotype	NM_000350.2:c.[1A>G;6089G>A]	Yes	Current
59128	236091	-1	ABCA4	coding, Haplotype	NM_000350.2:c.[2588G>C;3289A>T]	Yes	Current
59129	236092	-1	ABCA4	coding, Haplotype	NM_000350.2:c.[2588G>C;5153T>G]	Yes	Current
59282	236131	-1	ABCA4	coding, Haplotype	NM_000350.2:c.[5381C>A;6148G>C]	Yes	Current
391968	236196	-1	CNTNAP1	coding, CompoundHeterozygote	NM_003632.2:c.[1869G>A];[967T>C]	Yes	No
1328159	236230	-1	TELO2	coding, Haplotype	NM_016111.3:c.[514C>T;2034+1G>A]	Yes	No
240131	236265	-1	BRCA1	coding, Haplotype	NM_007294.3:c.[594-2A>C;641A>G]	Yes	Current
616505	236401	-1	GBA	coding, CompoundHeterozygote	NM_000157.3:c.[1448T>C];[407C>T]	Yes	No
616511	236403	-1	GBA	coding, CompoundHeterozygote	NM_000157.3:c.[1448T>C];[167T>G]	Yes	No
616512	236404	-1	GBA	coding, CompoundHeterozygote	NM_000157.3:c.[1197G>T];[1603C>T]	Yes	Current
630085	242904	-1	GLB1	coding, CompoundHeterozygote	NM_000404.3:c.[276G>A];[75+5G>C]	Yes	No
953055	242987	-1	NEK9	coding, Haplotype	NM_033116.4:c.[1715G>T;1731+1G>T]	Yes	No
141602	243004	-1	APC	coding, Haplotype	NM_001127511.2:c.[-125delA;-195A>C]	Yes	No
385541	243098	-1	CLMP	coding, CompoundHeterozygote	NM_024769.3:c.[29-2A>G];[410G>A]	Yes	No
773670	250921	-1	LDLR	genomic, Haplotype	NG_009060.1:g.[27134_32618del5485;4982_15965del10984]	Yes	No
773671	250922	-1	LDLR	genomic, Haplotype	NG_009060.1:g.[18284_22307del4024;27134_45290dup18157]	Yes	No
773672	250923	-1	LDLR	coding, Haplotype	NM_000527.4:c.[649_654dupGATGGT;657_661delCCCCG]	Yes	No
1286482	252959	-1	SPG11	coding, CompoundHeterozygote	NM_025137.3:c.[2316+5G>A];[6856C>T]	Yes	No
72378	253012	-1	ACO2	coding, CompoundHeterozygote	NM_001098.2:c.[1981G>A];[220C>G]	Yes	No
1507473	253111	-1	ZBTB20	coding, Haplotype	NM_001164342.2:c.[1847C>T;2221G>A]	Yes	No
588836	265766	-1	FLNC	coding, CompoundHeterozygote	NM_001458.4:c.[2971C>T];[318C>G]	Yes	No
1240201	265793	-1	SLC12A3	coding, CompoundHeterozygote	NM_000339.2:c.[1849C>T];[1919A>G]	Yes	No
157245	265959	-1	ASS1	coding, CompoundHeterozygote	NM_000050.4:c.[323G>T];[970+5G>A]	Yes	Current
1058831	266012	-1	PLCE1	coding, Haplotype	NM_016341.3:c.[6093T>C;6800G>A]	Yes	Current
194554	266081	-1	BBS4	RNA, Haplotype	NM_033028.4:r.[118_261del;118_373del]	Yes	Current
636193	266115	-1	GMPPB	coding, CompoundHeterozygote	NM_021971.2:c.[1000G>A];[951+1G>A]	Yes	Current
823150	267189	-1	MDH2	coding, CompoundHeterozygote	NM_005918.3:c.[109G>A];[398C>T]	Yes	No
456160	267264	-1	CYP27B1	coding, CompoundHeterozygote	NM_000785.3:c.[1325_1326insCCCACCC];[1358G>A]	Yes	No
627497	267367	-1	GJB2	coding, Haplotype	NM_004004.5:c.[134G>A;408C>A]	Yes	No
964313	267490	-1	NF1	genomic, Haplotype	NG_009018.1:g.[134769_136954del2186;136931_139830del2900]	Yes	No
42715	267491	-1	-	genomic, Haplotype	NC_000022.10:g.[30057723_30063344del;30063345_30067790del]	Yes	Current
247045	267496	-1	BRCA1	coding, Haplotype	NM_007294.3:c.[5243_5277+2788del;5277+2916_5277+2946delinsGG]	Yes	Current
1091581	268094	-1	POLG	coding, CompoundHeterozygote	NM_002693.2:c.[2693T>C];[924G>T]	Yes	No
42749	279599	-1	-	genomic, CompoundHeterozygote	NW_003871094.1:g.[16323A>G];[16581G>A]	No	No
735599	369808	-1	KCNQ2	coding, Haplotype	NM_172107.2:c.[1734G>A;1735C>A]	Yes	No
248194	373888	-1	BRCA1	genomic, Haplotype	NG_005905.2:g.[(147057_150288)_(160933_166866)del;(?_92501)_(135581_1441370)del]	Yes	No
1271824	374221	-1	SMARCA2	coding, Haplotype	NM_001289396.1:c.[3495G>C;3917G>A]	Yes	No
172575	375243	-1	ATM	coding, CompoundHeterozygote	NM_000051.3:c.[1236-2A>T];[497-1G>A]	Yes	No
1094429	375245	-1	POLR3B	coding, CompoundHeterozygote	NM_018082.5:c.[1568T>A];[2774C>T]	Yes	No
1295509	375261	-1	SRD5A2	coding, CompoundHeterozygote	NM_000348.3:c.[548-9T>G];[680G>A]	Yes	No
1488518	375263	-1	VPS33B	genomic, CompoundHeterozygote	NG_012162.1:g.[13762C>T];[21911G>T]	Yes	No
305864	375266	-1	C5orf42	genomic, CompoundHeterozygote	NG_032772.1:g.[27914A>G];[85373A>C]	Yes	No
455316	375268	-1	CYP21A2	coding, CompoundHeterozygote	NM_000500.7:c.[518T>A];[830_841delTCCTGGAAGGGC]	Yes	No
1295510	375279	-1	SRD5A2	coding, CompoundHeterozygote	NM_000348.3:c.[680G>A];[694C>G]	Yes	No
455317	375280	-1	CYP21A2	coding, CompoundHeterozygote	NM_000500.7:c.[377C>G];[518T>A]	Yes	No
44276	375288	-1	-	genomic, Haplotype	NC_000018.9:g.[50994293A>G;51013178G>A]	Yes	No
619057	375590	-1	GCM2	coding, Haplotype	NM_004752.3:c.[1136T>A;751C>G]	Yes	No
655570	375745	-1	HBA2	coding, Haplotype	NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]	Yes	Current
409439	397582	-1	COL4A3	coding, Haplotype	NM_000091.4:c.[1900G>A;1927G>A]	Yes	No
1013884	402236	-1	PAH	coding, Haplotype	NM_000277.1:c.[722delG;735G>A]	Yes	No
463893	403734	-1	DDX41	coding, Haplotype	NM_016222.3:c.[711G>T;712C>A]	Yes	Current