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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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Genes:
ABAT, ABCC12, ACSF3, ACSM1, ACSM2A, BCKDK, CLN3, COQ7, COQ9, COX4I1, CYB5B, CYBA, DDX28, DNAJA3, EARS2, FAHD1, GOT2, HAGH, HSDL1, KARS, MRPL28, MRPS34, NME3, NME4, PDPR, RHOT2, SPG7, TRAP1, WWOX,

+ Genes associated with diseases 12

Genes at Omim

ABAT, ACSF3, BCKDK, CLN3, COQ7, COQ9, CYBA, EARS2, HAGH, KARS, MRPS34, WWOX,

ABAT	GABA-transaminase deficiency, 613163 (3)
ACSF3	Combined malonic and methylmalonic aciduria, 614265 (3)
BCKDK	Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
CLN3	Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
COQ7	?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
COQ9	Coenzyme Q10 deficiency, primary, 5, 614654 (3)
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
EARS2	Combined oxidative phosphorylation deficiency 12, 614924 (3)
HAGH	[Glyoxalase II deficiency], 614033 (1)
KARS	Deafness, autosomal recessive 89, 613916 (3) ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)
MRPS34	Combined oxidative phosphorylation deficiency 32, 617664 (3)
WWOX	Epileptic encephalopathy, early infantile, 28, 616211 (3) Esophageal squamous cell carcinoma, somatic, 133239 (3) Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)

Genes at Clinical Genomics Database

ABAT, ACSF3, BCKDK, CLN3, COQ7, COQ9, CYBA, EARS2, KARS, SPG7, TRAP1, WWOX,

ABAT	GABA-transaminase deficiency
ACSF3	Combined malonic and methylmalonic aciduria
BCKDK	Branched-chain ketoacid dehydrogenase kinase deficiency
CLN3	Ceroid lipofuscinosis, neuronal, 3
COQ7	Coenzyme Q10 deficiency, primary 8
COQ9	Coenzyme Q10 deficiency 5
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA
EARS2	Combined oxidative phosphorylation deficiency 12
KARS	Charcot-Marie-Tooth disease, recessive intermediate B
SPG7	Spastic paraplegia 7, autosomal recessive
TRAP1	Congenital abnormalities of the kidney and urinary tract VACTERL association
WWOX	Epileptic encephalopathy, early infantile, 28 Spinocerebellar ataxia, autosomal recessive 12

Genes at HGMD

Summary

Number of Variants: 250
Number of Genes: 29

Export to: CSV

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ABAT
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs1731017 dbSNP Clinvar	8839954	2441.28	A	G	PASS	0/1	174	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.50080	0.50080	0.48599	0.61	0.00	0.11	None None	. . . None	ABAT\|0.163825558\|41.04%
	View	trf_44289	16	rs1641022 dbSNP Clinvar	8868776	2102.36	C	A	PASS	1/1	68	SYNONYMOUS_CODING	LOW	None	0.31749	0.31750	0.32261				None None	None None None None	ABAT\|0.163825558\|41.04%
ABCC12
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs12149826 dbSNP Clinvar	48164777	1842.18	T	C	PASS	1/1	58	SYNONYMOUS_CODING	LOW	None	0.12081	0.12080	0.22335				None None	None None None None	ABCC12\|0.070949421\|57.23%
ACSF3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs6500528 dbSNP Clinvar	89167443	1683.57	T	C	PASS	1/1	54	SYNONYMOUS_CODING	LOW	None	0.61981	0.61980	0.27455			-100.00	None None	. . . None	ACSF3\|0.012049699\|79.2%
	View	trf_44289	16	rs6500529 dbSNP Clinvar	89167458	1760.06	C	A	PASS	1/1	56	SYNONYMOUS_CODING	LOW	None	0.61921	0.61920					None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	trf_44289	16	rs12447947 dbSNP Clinvar	89199651	911.49	G	A	PASS	0/1	94	SYNONYMOUS_CODING	LOW	None	0.14537	0.14540	0.26277				None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	trf_44289	16	rs3743979 dbSNP Clinvar	89180883	1505.08	G	A	PASS	1/1	48	NON_SYNONYMOUS_CODING	MODERATE	None	0.62959	0.62960	0.29186	0.10	0.63	1.62	None None	.,. .,. .,. None	ACSF3\|0.012049699\|79.2%
	View	trf_44289	16	rs7188200 dbSNP Clinvar	89167094	1952.41	T	C	PASS	1/1	62	NON_SYNONYMOUS_CODING	MODERATE	None	0.62440	0.62440		0.27	0.00	0.89	None None	. . . None	ACSF3\|0.012049699\|79.2%
	View	trf_44289	16	rs7201122 dbSNP Clinvar	89167140	2551.56	G	C	PASS	1/1	81	SYNONYMOUS_CODING	LOW	None	0.84924	0.84920	0.08482				None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	trf_44289	16	rs6500526 dbSNP Clinvar	89167395	1403.37	C	T	PASS	1/1	45	SYNONYMOUS_CODING	LOW	None	0.61901	0.61900	0.27585			-100.00	None None	. . . None	ACSF3\|0.012049699\|79.2%
	View	trf_44289	16	rs7193255 dbSNP Clinvar	89167404	1501.31	T	C	PASS	1/1	48	SYNONYMOUS_CODING	LOW	None	0.61981	0.61980	0.27532			-100.00	None None	. . . None	ACSF3\|0.012049699\|79.2%
	View	trf_44289	16	rs6500527 dbSNP Clinvar	89167431	1564.33	G	C	PASS	1/1	49	SYNONYMOUS_CODING	LOW	None	0.61981	0.61980	0.27755				None None	None None None None	ACSF3\|0.012049699\|79.2%
ACSM1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs3743690 dbSNP Clinvar	20635418	534.82	C	T	PASS	0/1	41	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.18371	0.18370	0.09722			0.29	None None	. . . None	ACSM3\|0.167284946\|40.62%,ACSM1\|0.006779542\|83.72%
	View	trf_44289	16	rs2301672 dbSNP Clinvar	20636814	1370.66	G	A	PASS	0/1	90	SYNONYMOUS_CODING	LOW	None	0.18031	0.18030	0.09468			-0.99	None None	. . . None	ACSM3\|0.167284946\|40.62%,ACSM1\|0.006779542\|83.72%
	View	trf_44289	16	rs1692729 dbSNP Clinvar	20638576	620.01	A	T	PASS	0/1	52	SYNONYMOUS_CODING	LOW	None	0.60583	0.60580	0.46293			-1.95	None None	. . . None	ACSM3\|0.167284946\|40.62%,ACSM1\|0.006779542\|83.72%
ACSM2A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs9924150 dbSNP Clinvar	20492000	359.01	A	G	PASS	0/1	121	NON_SYNONYMOUS_CODING	MODERATE	None	0.82628	0.82630		1.00	0.00	-0.66	None None	. . . None	ACSM2A\|0.005190474\|85.6%
BCKDK
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs14235 dbSNP Clinvar	31121793	901.9	G	A	PASS	0/1	96	SYNONYMOUS_CODING	LOW	None	0.35923	0.35920	0.30291				None None	None None None None	BCKDK\|0.213682179\|35.16%
CLN3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs111404007 dbSNP Clinvar	28502941	532.38	G	C	PASS	0/1	51	None	None	None	0.00559	0.00559	0.01073	0.51	0.00		None None	None None None None	CLN3\|0.080923796\|55%
COQ7
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs11074359 dbSNP Clinvar	19085298	2135.17	C	T	PASS	1/1	67	NON_SYNONYMOUS_CODING	MODERATE	None	0.57468	0.57470	0.46244	0.06	0.55	3.61	None None	. . . None	COQ7\|0.07755176\|55.76%
COQ9
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs223864 dbSNP Clinvar	57484980	846.83	G	A	PASS	0/1	91	SYNONYMOUS_CODING	LOW	None	0.02037	0.02037	0.03155				None None	None None None None	COQ9\|0.108502854\|49.46%
COX4I1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs2599091 dbSNP Clinvar	85838653	1582.41	T	C	PASS	1/1	52	SYNONYMOUS_CODING	LOW	None	0.97704	0.97700	0.02762			-100.00	None None	. . . None	COX4I1\|0.092550833\|52.7%
CYB5B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs34661695 dbSNP Clinvar	69493004	26.51	A	C	PASS	0/1	9	SYNONYMOUS_CODING	LOW	None	0.04133	0.04133	0.06883				None None	None None None None	CYB5B\|0.137543308\|44.78%
CYBA
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs8053867 dbSNP Clinvar	88717386	797.14	T	C	PASS	1/1	26	SYNONYMOUS_CODING	LOW	None	0.99561	0.99560	0.00278			-100.00	None None	. . . None	CYBA\|0.038823068\|66.16%
	View	trf_44289	16	rs1049254 dbSNP Clinvar	88709828	608.92	A	G	PASS	1/1	20	None	None	None	0.73742	0.73740	0.31531	1.00	0.00	-1.07	None None	. . . None	CYBA\|0.038823068\|66.16%
	View	trf_44289	16	rs4673 dbSNP Clinvar	88713236	834.14	A	G	PASS	0/1	70	NON_SYNONYMOUS_CODING	MODERATE	None	0.66434	0.66430	0.37842	0.28	0.02	2.23	None None	rs4673 2 CYBA_POLYMORPHISM None	CYBA\|0.038823068\|66.16%
DDX28
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs237831 dbSNP Clinvar	68057096	1355.57	T	C	PASS	1/1	45	NON_SYNONYMOUS_CODING	MODERATE	None	0.97284	0.97280	0.05297	1.00	0.00	-0.47	None None	. . . None	DUS2\|0.231209011\|33.27%,DDX28\|0.025954157\|71.34%
DNAJA3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs1139652 dbSNP Clinvar	4476089	867.43	T	C	PASS	1/1	28	SYNONYMOUS_CODING	LOW	None	0.64197	0.64200	0.29675			2.12	None None	. . . None	DNAJA3\|0.212566641\|35.3%
	View	trf_44289	16	rs2304633 dbSNP Clinvar	4496973	832.41	T	A	PASS	1/1	27	SYNONYMOUS_CODING	LOW	None	0.62780	0.62780	0.30445				None None	None None None None	DNAJA3\|0.212566641\|35.3%
	View	trf_44289	16	rs1139653 dbSNP Clinvar	4484396	1984.39	A	T	PASS	1/1	63	NON_SYNONYMOUS_CODING	MODERATE	None	0.63498	0.63500	0.29691	1.00	0.00	-1.70	None None	. . . None	DNAJA3\|0.212566641\|35.3%
EARS2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs6497671 dbSNP Clinvar	23536684	652.27	T	C	PASS	0/1	52	NON_SYNONYMOUS_CODING	MODERATE	None	0.80192	0.80190	0.15038	1.00	0.00	-1.01	None None	. . . None	EARS2\|0.109721284\|49.25%
	View	trf_44289	16	rs77939239 dbSNP Clinvar	23544061	839.05	C	T	PASS	0/1	61	SYNONYMOUS_CODING	LOW	None	0.01378	0.01378	0.02630				None None	None None None None	EARS2\|0.109721284\|49.25%
	View	trf_44289	16	rs2073951 dbSNP Clinvar	23546561	682.73	G	C	PASS	0/1	76	SYNONYMOUS_CODING	LOW	None	0.80272	0.80270	0.14751				None None	None None None None	EARS2\|0.109721284\|49.25%
	View	trf_44289	16	rs7187920 dbSNP Clinvar	23563501	1464.01	C	T	PASS	0/1	122	SYNONYMOUS_CODING	LOW	None	0.67472	0.67470	0.26567				None None	None None None None	EARS2\|0.109721284\|49.25%
FAHD1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs3743852 dbSNP Clinvar	1877698	803.93	C	G	PASS	0/1	67	SYNONYMOUS_CODING	LOW	None	0.11741	0.11740	0.12448				None None	None None None None	FAHD1\|0.043174118\|64.76%
GOT2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs1058192 dbSNP Clinvar	58750604	242.72	G	A	PASS	0/1	25	SYNONYMOUS_CODING	LOW	None	0.72025	0.72020	0.28624			-100.00	None None	. . . None	GOT2\|0.777656233\|6.37%
	View	trf_44289	16	rs30842 dbSNP Clinvar	58743454	483.29	A	C	PASS	0/1	39	NON_SYNONYMOUS_CODING	MODERATE	None	0.75519	0.75520	0.25469	1.00	0.00	-0.15	None None	. . . None	GOT2\|0.777656233\|6.37%
	View	trf_44289	16	rs14221 dbSNP Clinvar	58757668	734.75	A	C	PASS	0/1	73	SYNONYMOUS_CODING	LOW	None	0.70827	0.70830	0.29117				None None	None None None None	GOT2\|0.777656233\|6.37%
	View	trf_44289	16	rs257636 dbSNP Clinvar	58757683	610.04	A	G	PASS	0/1	55	SYNONYMOUS_CODING	LOW	None	0.68950	0.68950	0.30332			-100.00	None None	. . . None	GOT2\|0.777656233\|6.37%
	View	trf_44289	16	rs11558171 dbSNP Clinvar	58768129	96.19	C	A	PASS	0/1	10	NON_SYNONYMOUS_CODING	MODERATE	None	0.04333	0.04333	0.08301	0.09	0.97	3.45	None None	. . . None	GOT2\|0.777656233\|6.37%
HAGH
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs1628812 dbSNP Clinvar	1859432	735.48	G	C	PASS	1/1	25	None	None	None	0.73622	0.73620	0.23100				None None	None None None None	HAGH\|0.057316642\|60.6%
HSDL1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs4378600 dbSNP Clinvar	84158248	790.26	G	C	PASS	0/1	77	NON_SYNONYMOUS_CODING	MODERATE	None	0.24720	0.24720	0.27123	0.00	0.32	2.15	None None	. . . None	HSDL1\|0.061467995\|59.45%
KARS
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs5030748 dbSNP Clinvar	75675609	1285.97	T	C	PASS	0/1	108	SYNONYMOUS_CODING	LOW	None	0.02975	0.02975	0.08126			-100.00	None None	. . . None	KARS\|0.939114872\|2.51%
MRPL28
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs3830160 dbSNP Clinvar	419092	668.37	A	G	PASS	1/1	22	SYNONYMOUS_CODING	LOW	None	0.68131	0.68130	0.33154			-100.00	None None	. . . None	None
	View	trf_44289	16	rs13226 dbSNP Clinvar	417757	715.21	T	C	PASS	0/1	56	NON_SYNONYMOUS_CODING	MODERATE	None	0.02975	0.02975	0.06266	0.21	0.11	0.19	None None	. . . None	None
MRPS34
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs11552431 dbSNP Clinvar	1823024	310.71	G	T	PASS	0/1	33	NON_SYNONYMOUS_CODING	MODERATE	None	0.14597	0.14600	0.06805	0.00	0.19	2.29	None None	. . . None	MRPS34\|0.032095242\|68.57%
NME3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs11890 dbSNP Clinvar	1820992	548.35	T	A	PASS	0/1	66	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.76358	0.76360	0.16050				None None	None None None None	NME3\|0.015536375\|76.78%
NME4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs14293 dbSNP Clinvar	449659	835.32	G	A	PASS	0/1	67	SYNONYMOUS_CODING	LOW	None	0.44189	0.44190	0.44902			-1.17	None None	. . . None	NME4\|0.024153161\|72.15%
	View	trf_44289	16	rs448063 dbSNP Clinvar	450165	700.11	T	C	PASS	0/1	72	None	None	None	0.56669	0.56670		0.01	0.00	-100.00	None None	. . . None	NME4\|0.024153161\|72.15%
	View	trf_44289	16	rs5841 dbSNP Clinvar	450309	92.24	C	T	PASS	0/1	16	None	None	None	0.41414	0.41410	0.41699			-100.00	None None	. . . None	NME4\|0.024153161\|72.15%
PDPR
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs6499302 dbSNP Clinvar	70190401	190.19	C	T	PASS	0/1	92	SYNONYMOUS_CODING	LOW	None			0.39782			-100.00	None None	. . . None	PDPR\|0.230085015\|33.36%
	View	trf_44289	16	rs10852462 dbSNP Clinvar	70164334	214.76	A	G	PASS	0/1	66	NON_SYNONYMOUS_CODING	MODERATE	None				0.69	0.13	1.71	None None	. . . None	PDPR\|0.230085015\|33.36%
	View	trf_44289	16	rs112617700 dbSNP Clinvar	70172890	306.23	C	T	PASS	0/1	69	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.89	4.98	None None	. . . None	PDPR\|0.230085015\|33.36%
	View	trf_44289	16	rs59034887 dbSNP Clinvar	70170222	822.61	G	T	PASS	0/1	106	NON_SYNONYMOUS_CODING	MODERATE	None			0.14131	0.17	0.01	2.03	None None	. . . None	PDPR\|0.230085015\|33.36%
	View	trf_44289	16	rs2549532 dbSNP Clinvar	70161263	323.83	T	C	PASS	0/1	63	NON_SYNONYMOUS_CODING	MODERATE	None				0.33	0.00	1.58	None None	. . . None	PDPR\|0.230085015\|33.36%
RHOT2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs184308984 dbSNP Clinvar	722765	1062.99	C	G	PASS	0/1	105	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020	0.00008				None None	None None None None	RHOT2\|0.051756673\|62.14%
	View	trf_44289	16	rs7204542 dbSNP Clinvar	718514	1283.47	C	G	PASS	1/1	43	SYNONYMOUS_CODING	LOW	None	0.54673	0.54670	0.31822				None None	None None None None	RHOT2\|0.051756673\|62.14%
SPG7
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs2292954 dbSNP Clinvar	89613123	1007.83	A	G	PASS	0/1	99	NON_SYNONYMOUS_CODING	MODERATE	None	0.10643	0.10640	0.14112	0.17	0.00	2.20	None None	rs2292954 3 not_specified None	SPG7\|0.052707902\|61.82%
	View	trf_44289	16	rs12960 dbSNP Clinvar	89620328	795.66	G	A	PASS	0/1	83	NON_SYNONYMOUS_CODING	MODERATE	None	0.10583	0.10580	0.14099	0.10	0.09	4.26	None None	rs12960 3 not_specified None	SPG7\|0.052707902\|61.82%
	View	trf_44289	16	rs730264 dbSNP Clinvar	89620148	392.6	A	G	PASS	0/1	28	None	None	None	0.18031	0.18030					None None	None None None None	SPG7\|0.052707902\|61.82%
TRAP1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs13926 dbSNP Clinvar	3724465	154.89	G	C	PASS	0/1	16	NON_SYNONYMOUS_CODING	MODERATE	None	0.39277	0.39280	0.33169	0.31	0.00	-0.01	None None	. . . None	DNASE1\|0.039855019\|65.82%,TRAP1\|0.168599632\|40.51%
WWOX
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs11545029 dbSNP Clinvar	78420775	1996.44	G	A	PASS	1/1	63	NON_SYNONYMOUS_CODING	MODERATE	None	0.26338	0.26340	0.45934	0.39	0.14	3.13	None None	. . . None	WWOX\|0.999159326\|0.38%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	trf_44289	16	rs1273407 dbSNP Clinvar	8862592	1980.88	T	C	PASS	1/1	65	None	None	None	1.00000	1.00000					None None	None None None None	ABAT\|0.163825558\|41.04%
	View	trf_44289	16	rs11862060 dbSNP Clinvar	8862990	149.72	G	A	PASS	0/1	22	None	None	None	0.33207	0.33210					None None	None None None None	ABAT\|0.163825558\|41.04%
	View	trf_44289	16	rs2270288 dbSNP Clinvar	8875529	85.99	G	T	PASS	1/1	3	None	None	None	0.37380	0.37380					None None	None None None None	ABAT\|0.163825558\|41.04%,TMEM186\|0.009264274\|81.48%
	View	trf_44289	16	rs12049 dbSNP Clinvar	8889628	173.51	T	C	PASS	1/1	6	None	None	None	0.39297	0.39300					None None	None None None None	TMEM186\|0.009264274\|81.48%,PMM2\|0.169037726\|40.44%
	View	trf_44289	16	rs11642272 dbSNP Clinvar	8890574	116.85	G	A	PASS	0/1	10	None	None	None	0.15795	0.15790					None None	None None None None	TMEM186\|0.009264274\|81.48%,PMM2\|0.169037726\|40.44%
	View	trf_44289	16	rs34079211,rs781717879 dbSNP Clinvar	8891311	303.43	CA	C	PASS	1/1	10	None	None	None	0.91893	0.91890					None None	None None None None	TMEM186\|0.009264274\|81.48%,PMM2\|0.169037726\|40.44%
	View	trf_44289	16	rs34742119,rs1799772 dbSNP Clinvar	8904877	2891.56	T	TATG	PASS	1/1	96	None	None	None	0.00060	0.83490					None None	None None None None	PMM2\|0.169037726\|40.44%
	View	trf_44289	16	rs11074924 dbSNP Clinvar	8905054	2360.94	T	C	PASS	1/1	76	None	None	None	0.38119	0.38120	0.43742				None None	None None None None	PMM2\|0.169037726\|40.44%
	View	trf_44289	16	rs3743809 dbSNP Clinvar	8906573	433.79	C	T	PASS	1/1	15	None	None	None	0.39337	0.39340					None None	None None None None	PMM2\|0.169037726\|40.44%
	View	trf_44289	16	rs9924186 dbSNP Clinvar	8907145	641.38	G	T	PASS	1/1	24	None	None	None	0.82828	0.82830					None None	None None None None	PMM2\|0.169037726\|40.44%
	View	trf_44289	16	rs4531717 dbSNP Clinvar	19079095	413.37	T	G	PASS	1/1	15	None	None	None	0.87520	0.87520	0.11782				None None	None None None None	COQ7\|0.07755176\|55.76%
	View	trf_44289	16	rs4782202 dbSNP Clinvar	19083221	2447.31	A	G	PASS	1/1	78	None	None	None	0.90875	0.90870	0.09497				None None	None None None None	COQ7\|0.07755176\|55.76%
	View	trf_44289	16	rs9673167 dbSNP Clinvar	19083549	99.82	C	T	PASS	1/1	4	None	None	None	0.57488	0.57490					None None	None None None None	COQ7\|0.07755176\|55.76%
	View	trf_44289	16	rs1634306 dbSNP Clinvar	20488803	664.25	T	A	PASS	0/1	63	None	None	None	0.38758	0.38760					None None	None None None None	ACSM2A\|0.005190474\|85.6%
	View	trf_44289	16	rs4783532 dbSNP Clinvar	20497775	99.99	G	C	PASS	0/1	14	None	None	None	0.47205	0.47200					None None	None None None None	ACSM2A\|0.005190474\|85.6%
	View	trf_44289	16	rs3743689 dbSNP Clinvar	20635247	22.96	A	C	PASS	0/1	4	None	None	None	0.23103	0.23100					None None	None None None None	ACSM3\|0.167284946\|40.62%,ACSM1\|0.006779542\|83.72%
	View	trf_44289	16	rs163234 dbSNP Clinvar	20652023	182.88	T	C	PASS	0/1	21	None	None	None	0.60583	0.60580					None None	None None None None	ACSM3\|0.167284946\|40.62%,ACSM1\|0.006779542\|83.72%
	View	trf_44289	16	rs4783458 dbSNP Clinvar	20696908	120.41	T	C	PASS	0/1	11	None	None	None	0.53255	0.53250					None None	None None None None	ACSM3\|0.167284946\|40.62%,ACSM1\|0.006779542\|83.72%
	View	trf_44289	16	rs5715 dbSNP Clinvar	20792188	930.48	T	C	PASS	0/1	82	None	None	None	0.62979	0.62980	0.29311				None None	None None None None	ACSM3\|0.167284946\|40.62%,ERI2\|0.119712352\|47.5%
	View	trf_44289	16	rs8058758 dbSNP Clinvar	20796508	821.92	T	C	PASS	0/1	88	None	None	None	0.32009	0.32010					None None	None None None None	ACSM3\|0.167284946\|40.62%,ERI2\|0.119712352\|47.5%
	View	trf_44289	16	rs141608385 dbSNP Clinvar	21973884	1500.76	A	C	PASS	0/1	113	None	None	None	0.00100	0.00100	0.00146				None None	None None None None	UQCRC2\|0.300516158\|27.63%
	View	trf_44289	16	rs2072062 dbSNP Clinvar	23540798	710.11	C	T	PASS	0/1	57	None	None	None	0.68870	0.68870	0.24648				None None	None None None None	EARS2\|0.109721284\|49.25%
	View	trf_44289	16	rs2967156 dbSNP Clinvar	21983136	321.9	T	C	PASS	1/1	11	None	None	None	0.99082	0.99080					None None	None None None None	UQCRC2\|0.300516158\|27.63%
	View	trf_44289	16	rs2965803 dbSNP Clinvar	21992122	167.91	T	C	PASS	1/1	6	None	None	None	0.99201	0.99200					None None	None None None None	UQCRC2\|0.300516158\|27.63%
	View	trf_44289	16	rs1468138 dbSNP Clinvar	23535680	2255.8	A	C	PASS	0/1	194	None	None	None	0.80212	0.80210	0.14994				None None	None None None None	EARS2\|0.109721284\|49.25%
	View	trf_44289	16	rs6497670 dbSNP Clinvar	23536366	43.22	T	C	PASS	0/1	14	None	None	None	0.80192	0.80190					None None	None None None None	EARS2\|0.109721284\|49.25%
	View	trf_44289	16	rs2072061 dbSNP Clinvar	23541223	877.38	G	A	PASS	0/1	70	None	None	None	0.67312	0.67310	0.26318				None None	None None None None	EARS2\|0.109721284\|49.25%
	View	trf_44289	16	rs2369009 dbSNP Clinvar	23555726	467.64	C	T	PASS	0/1	30	None	None	None	0.67572	0.67570					None None	None None None None	EARS2\|0.109721284\|49.25%
	View	trf_44289	16	rs34839 dbSNP Clinvar	28489346	429.12	T	C	PASS	1/1	15	None	None	None	0.46286	0.46290					None None	None None None None	CLN3\|0.080923796\|55%
	View	trf_44289	16	rs3088215 dbSNP Clinvar	28853996	85.99	A	C	PASS	1/1	3	None	None	None	0.26158	0.26160					None None	None None None None	TUFM\|0.40478455\|20.48%
	View	trf_44289	16	rs61737565 dbSNP Clinvar	28855522	3147.89	G	C	PASS	1/1	99	None	None	None	0.26158	0.26160	0.34424				None None	None None None None	TUFM\|0.40478455\|20.48%
	View	trf_44289	16	rs4788099 dbSNP Clinvar	28855727	3161.48	A	G	PASS	1/1	99	None	None	None	0.26158	0.26160	0.34462				None None	None None None None	TUFM\|0.40478455\|20.48%
	View	trf_44289	16	rs7187776 dbSNP Clinvar	28857645	2959.44	A	G	PASS	1/1	93	None	None	None	0.34924	0.34920					None None	None None None None	TUFM\|0.40478455\|20.48%
	View	trf_44289	16	rs4889504 dbSNP Clinvar	30762640	835.95	C	T	PASS	1/1	29	None	None	None	0.96745	0.96750	0.04156				None None	None None None None	PHKG2\|0.327083311\|25.69%
	View	trf_44289	16	rs71374033 dbSNP Clinvar	30764361	80.59	A	AT	PASS	1/1	4	None	None	None	0.49141	0.49140					None None	None None None None	PHKG2\|0.327083311\|25.69%
	View	trf_44289	16	rs71820772,rs56107910 dbSNP Clinvar	30768492	1626.0	GC...	G	PASS	1/1	60	None	None	None	0.96745	0.96750					None None	None None None None	PHKG2\|0.327083311\|25.69%
	View	trf_44289	16	rs7294 dbSNP Clinvar	31102321	1248.47	C	T	PASS	0/1	103	None	None	None	0.41973	0.41970					None None	None None None None	VKORC1\|0.065829052\|58.39%
	View	trf_44289	16	rs9934438 dbSNP Clinvar	31104878	1080.03	G	A	PASS	0/1	88	MOTIF[MA0114.1:HNF4A]	MODIFIER	None	0.35583	0.35580					None None	None None None None	VKORC1\|0.065829052\|58.39%
	View	trf_44289	16	rs2884737 dbSNP Clinvar	31105554	1376.79	A	C	PASS	0/1	120	None	None	None	0.09145	0.09145	0.20684			-0.39	None None	. . . None	VKORC1\|0.065829052\|58.39%