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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA4, ABCB5, ABCC6, ADAMTS18, AGBL1, ANGPTL7, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL5A1, COL5A2, COL6A1, COL8A2, CYP4V2, FOXE3, GPR98, IL1RN, ITGB1, KRT12, KRT13, KRT15, KRT16, KRT23, KRT24, KRT3, LRRN1, LTBP2, MTOR, MYLK, NLRP1, PIK3CG, PIK3R1, PIKFYVE, PRDM5, PXDN, PXN, SFTPD, SIX5, SLC4A11, TCF4, TGFBI, TLN1, VSX1, WNT9A, WNT9B, ZNF469,

+ Genes associated with diseases 36

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL5A1, COL5A2, COL6A1, COL8A2, CYP4V2, FOXE3, IL1RN, KRT12, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PRDM5, PXDN, SIX5, SLC4A11, TCF4, TGFBI, VSX1, ZNF469,

ABCA4	Fundus flavimaculatus, 248200 (3) {Macular degeneration, age-related, 2}, 153800 (3) Cone-rod dystrophy 3, 604116 (3) Retinal dystrophy, early-onset severe, 248200 (3) Retinitis pigmentosa 19, 601718 (3) Stargardt disease 1, 248200 (3)
ABCC6	Arterial calcification, generalized, of infancy, 2, 614473 (3) Pseudoxanthoma elasticum, 264800 (3) Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18	Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGBL1	Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
BEST1	Bestrophinopathy, autosomal recessive, 611809 (3) Macular dystrophy, vitelliform, 2, 153700 (3) Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3) Retinitis pigmentosa, concentric, 613194 (3) Retinitis pigmentosa-50, 613194 (3) Vitreoretinochoroidopathy, 193220 (3)
COL12A1	Bethlem myopathy 2, 616471 (3) ?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1	Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3)
COL2A1	Avascular necrosis of the femoral head, 608805 (3) Achondrogenesis, type II or hypochondrogenesis, 200610 (3) Czech dysplasia, 609162 (3) Legg-Calve-Perthes disease, 150600 (3) Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) Kniest dysplasia, 156550 (3) Osteoarthritis with mild chondrodysplasia, 604864 (3) Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) SED congenita, 183900 (3) SMED Strudwick type, 184250 (3) Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) Spondyloperipheral dysplasia, 271700 (3) Stickler sydrome, type I, nonsyndromic ocular, 609508 (3) Stickler syndrome, type I, 108300 (3) Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease with or without ocular anomalies, 175780 (3) ?Retinal arteries, tortuosity of, 180000 (3) Schizencephaly, 269160 (3)
COL4A2	{Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease 2, 614483 (3)
COL4A3	Alport syndrome 2, autosomal recessive, 203780 (3) Alport syndrome 3, autosomal dominant, 104200 (3) Hematuria, benign familial, 141200 (3)
COL5A1	Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COL5A2	Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
COL6A1	Bethlem myopathy 1, 158810 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
COL8A2	Corneal dystrophy, Fuchs endothelial, 1, 136800 (3) Corneal dystrophy, posterior polymorphous 2, 609140 (3)
CYP4V2	Bietti crystalline corneoretinal dystrophy, 210370 (3)
FOXE3	Anterior segment dysgenesis 2, multiple subtypes, 610256 (3) Cataract 34, multiple types, 612968 (3) {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
IL1RN	{Gastric cancer risk after H. pylori infection}, 137215 (3) {Microvascular complications of diabetes 4}, 612628 (3) Interleukin 1 receptor antagonist deficiency, 612852 (3)
KRT12	Meesmann corneal dystrophy, 122100 (3)
KRT13	White sponge nevus 2, 615785 (3)
KRT16	Pachyonychia congenita 1, 167200 (3) Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT3	Meesmann corneal dystrophy, 122100 (3)
LTBP2	Glaucoma 3, primary congenital, D, 613086 (3) Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MTOR	Focal cortical dysplasia, type II, somatic, 607341 (3) Smith-Kingsmore syndrome, 616638 (3)
MYLK	Aortic aneurysm, familial thoracic 7, 613780 (3)
NLRP1	Autoinflammation with arthritis and dyskeratosis, 617388 (3) {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3) Palmoplantar carcinoma, multiple self-healing, 615225 (3)
PIK3R1	Immunodeficiency 36, 616005 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) SHORT syndrome, 269880 (3)
PIKFYVE	Corneal fleck dystrophy, 121850 (3)
PRDM5	Brittle cornea syndrome 2, 614170 (3)
PXDN	Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
SIX5	Branchiootorenal syndrome 2, 610896 (3)
SLC4A11	Corneal dystrophy, Fuchs endothelial, 4, 613268 (3) Corneal endothelial dystrophy and perceptive deafness, 217400 (3) Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TCF4	Corneal dystrophy, Fuchs endothelial, 3, 613267 (3) Pitt-Hopkins syndrome, 610954 (3)
TGFBI	Corneal dystrophy, Avellino type, 607541 (3) Corneal dystrophy, Groenouw type I, 121900 (3) Corneal dystrophy, Reis-Bucklers type, 608470 (3) Corneal dystrophy, Thiel-Behnke type, 602082 (3) Corneal dystrophy, epithelial basement membrane, 121820 (3) Corneal dystrophy, lattice type I, 122200 (3) Corneal dystrophy, lattice type IIIA, 608471 (3)
VSX1	Keratoconus 1, 148300 (3) ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF469	Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4	Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 1 Retinal dystrophy, early-onset severe Fundus flavimaculatus
ABCC6	Pseudoxanthoma elasticum
ADAMTS18	Knobloch syndrome 2 Microcornea, myopic chorioretinal atrophy, and telecanthus Retinal dystrophy, early onset, autosomal recessive
AGBL1	Corneal dystrophy, Fuchs endothelial, 8
BEST1	Vitreoretinochoroidopathy Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
COL12A1	Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2
COL17A1	Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type
COL2A1	Stickler syndrome, type I Rhegmatogenous retinal detachment, autosomal dominant Czech dysplasia Otospondylomegaepiphyseal dysplasia Epiphyseal dysplasia, multiple, with myopia and deafness Avascular necrosis of femoral head, primary
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Brain small vessel disease with or without ocular anomalies Anterior segment dysgenesis with cerebral involvement Porencephaly 1 Retinal artery tortuosity Schizencephaly
COL4A2	Hemorrhage, intracerebral, susceptibility to
COL4A3	Alport syndrome, autosomal dominant Alport syndrome, autosomal recessive
COL5A1	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II
COL5A2	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II
COL6A1	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
COL8A2	Corneal dystrophy polymorphous posterior, 2 Corneal dystrophy, Fuchs endothelial, 1
CYP4V2	Bietti crystalline corneoretinal dystrophy Retinitis pigmentosa, autosomal recessive
FOXE3	Aphakia, congenital primary Anterior segment mesenchymal dysgenesis
IL1RN	Osteomyelitis, sterile multifocal, with periostitis and pustulosis
KRT12	Meesmann corneal dystrophy
KRT13	White sponge nevus 2
KRT16	Palmoplantar keratoderma, nonepidermolytic, focal Pachyonychia congenita 1
KRT3	Meesmann corneal dystrophy
LTBP2	Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3
MTOR	Smith-Kingsmore syndrome
MYLK	Aortic aneurysm, familial thoracic 7
NLRP1	Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PIK3R1	Agammaglobulinemia 7, autosomal recessive
PIKFYVE	Corneal fleck dystrophy
PRDM5	Brittle cornea syndrome 2
PXDN	Corneal opacification with other ocular anomalies
SIX5	Branchiootorenal syndrome 2
SLC4A11	Cryohydrocytosis
TCF4	Corneal dystrophy, Fuchs endothelial, 3 Pitt-Hopkins syndrome
TGFBI	Corneal dystrophy, lattice type I Corneal dystrophy, lattice type IIIA Corneal dystrophy of Bowman layer, type I Corneal dystrophy, Avellino type Corneal dystrophy, Reis-Bucklers type Corneal dystrophy, Thiel-Behnke type Corneal dystrophy, Groenouw type I Corneal dystrophy, epithelial basement membrane
VSX1	Craniofacial anomalies and anterior segment dysgenesis syndrome Keratoconus 1 Corneal dystrophy, posterior polymorphous
ZNF469	Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 625
Number of Genes: 50

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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	6424_s25	1	rs2275525 dbSNP Clinvar	11169676	100.0	C	T	PASS	0/1	48	None	None	None	0.15915	0.15910	0.08365				None None	None None None None	MTOR\|0.997612705\|0.59%
	View	6424_s25	X	rs104886089 dbSNP Clinvar	107829820	100.0	AT	A	R5x9	0/1	54	None	None	None	0.00371	0.00371					None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	6424_s25	X	rs774310963 dbSNP Clinvar	107827760	100.0	GT	G	R5x9	0/1	34	None	None	None			0.24287				None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	6424_s25	X	rs6622333 dbSNP Clinvar	107819223	100.0	T	C	PASS	1/1	72	None	None	None	0.32477	0.32480	0.14412				None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	6424_s25	21	rs59769541 dbSNP Clinvar	47423233	100.0	C	T	PASS	1/1	62	None	None	None	0.39137	0.39140					None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs2236489 dbSNP Clinvar	47423133	100.0	C	G	PASS	1/1	96	None	None	None	0.00539	0.82030	0.17981				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs2236486 dbSNP Clinvar	47422644	100.0	G	A	PASS	1/1	54	None	None	None	0.38958	0.38960	0.28011				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs2236485 dbSNP Clinvar	47422639	100.0	A	G	PASS	1/1	55	None	None	None	0.87420	0.87420	0.11937				None None	None None None None	COL6A1\|0.085741402\|53.99%
COL6A1
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	6424_s25	21	rs140547835 dbSNP Clinvar	47422614	100.0	G	T	PASS	1/1	56	NON_SYNONYMOUS_CODING	MODERATE	None	0.00659	0.00659	0.00162	0.52	0.00		None None	None None None None	COL6A1\|0.085741402\|53.99%
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	6424_s25	21	rs35796750 dbSNP Clinvar	47422412	100.0	C	T	PASS	1/1	39	None	None	None	0.55132	0.55130	0.48255				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs372260000 dbSNP Clinvar	47422357	100.0	C	T	PASS	0/1	53	None	None	None			0.00100				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs8132521 dbSNP Clinvar	47421864	100.0	C	T	PASS	1/1	108	None	None	None	0.37520	0.37520	0.24600				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs11701124 dbSNP Clinvar	47421315	100.0	C	T	PASS	1/1	55	None	None	None	0.55831	0.55830	0.46871				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs7276374 dbSNP Clinvar	47420866	100.0	C	T	PASS	1/1	68	None	None	None	0.86582	0.86580					None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs7276782 dbSNP Clinvar	47420769	100.0	A	G	PASS	1/1	70	None	None	None	0.86741	0.86740	0.13951				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs7283989 dbSNP Clinvar	47420761	100.0	G	A	PASS	1/1	70	None	None	None	0.55951	0.55950	0.49803				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs7276098 dbSNP Clinvar	47420726	100.0	C	G	PASS	1/1	69	None	None	None	0.03614	0.83030	0.13332				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs148205490 dbSNP Clinvar	47419182	100.0	C	T	PASS	1/1	43	None	None	None	0.00679	0.00679	0.00140				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs141212516,rs386394882,rs377432980,rs386365935 dbSNP Clinvar	47418728	100.0	C	CT	PASS	1/1	32	None	None	None	0.86142	0.86140					None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	21	rs3216137 dbSNP Clinvar	47417432	100.0	A	AG	PASS	1/1	23	None	None	None	0.72205	0.72200	0.27693				None None	None None None None	COL6A1\|0.085741402\|53.99%
	View	6424_s25	20	rs6084314 dbSNP Clinvar	3219692	100.0	C	T	PASS	0/1	38	None	None	None	0.41154	0.41150					None None	None None None None	SLC4A11\|0.04004945\|65.76%
SLC4A11
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	6424_s25	20	rs3810562 dbSNP Clinvar	3218634	100.0	G	C	PASS	1/1	71	NON_SYNONYMOUS_CODING	MODERATE	None	0.64157	0.64160		0.67	0.00		None None	None None None None	SLC4A11\|0.04004945\|65.76%
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	6424_s25	20	rs3827076 dbSNP Clinvar	3218355	100.0	C	G	PASS	1/1	34	None	None	None	0.45028	0.45030	0.43165				None None	None None None None	SLC4A11\|0.04004945\|65.76%
	View	6424_s25	20	rs3803957 dbSNP Clinvar	3215548	100.0	C	A	PASS	1/1	48	None	None	None	0.27236	0.27240	0.25927				None None	None None None None	SLC4A11\|0.04004945\|65.76%
SLC4A11
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	6424_s25	20	rs3827075 dbSNP Clinvar	3214819	100.0	T	G	PASS	1/1	91	SYNONYMOUS_CODING	LOW	None	0.47983	0.47980	0.48093				None None	None None None None	SLC4A11\|0.04004945\|65.76%
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	6424_s25	20	rs3803953 dbSNP Clinvar	3211719	100.0	T	G	PASS	0/1	31	None	None	None	0.40056	0.40060					None None	None None None None	SLC4A11\|0.04004945\|65.76%
	View	6424_s25	20	rs3810561 dbSNP Clinvar	3211064	100.0	A	C	PASS	1/1	30	None	None	None	0.78834	0.78830					None None	None None None None	SLC4A11\|0.04004945\|65.76%
	View	6424_s25	20	rs2281575 dbSNP Clinvar	3209371	100.0	G	A	PASS	0/1	73	None	None	None	0.49421	0.49420	0.39401				None None	None None None None	SLC4A11\|0.04004945\|65.76%
	View	6424_s25	19	rs3745802 dbSNP Clinvar	46271177	100.0	G	T	PASS	1/1	50	None	None	None	0.53514	0.53510					None None	None None None None	SIX5\|0.127519574\|46.26%
SIX5
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	6424_s25	19	rs2014377 dbSNP Clinvar	46269313	100.0	G	C	PASS	1/1	118	NON_SYNONYMOUS_CODING	MODERATE	None	0.90395	0.90400	0.12762	1.00	0.00		None None	None None None None	SIX5\|0.127519574\|46.26%
	View	6424_s25	19	rs2014576 dbSNP Clinvar	46269076	100.0	G	A	PASS	1/1	29	NON_SYNONYMOUS_CODING	MODERATE	None	0.50100	0.50100	0.40317	0.61	0.00		None None	None None None None	SIX5\|0.127519574\|46.26%
TCF4
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	6424_s25	18	rs611326 dbSNP Clinvar	53303101	100.0	C	G	PASS	1/1	89	NON_SYNONYMOUS_CODING	MODERATE	None	0.99681	0.99680	0.00123	0.52	0.00		None None	None None None None	TCF4\|0.999272266\|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	6424_s25	18	rs610362 dbSNP Clinvar	53302845	100.0	C	T	PASS	1/1	91	None	None	None	0.99681	0.99680					None None	None None None None	TCF4\|0.999272266\|0.38%
TCF4
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	6424_s25	18	rs17522826 dbSNP Clinvar	53070914	100.0	G	A	PASS	0/1	31	None	None	None	0.19229	0.19230			0.03		None None	None None None None	TCF4\|0.999272266\|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	6424_s25	18	rs1788027 dbSNP Clinvar	52942827	100.0	G	A	PASS	0/1	59	None	None	None	0.57029	0.57030	0.46655				None None	None None None None	TCF4\|0.999272266\|0.38%
	View	6424_s25	1	rs3730381 dbSNP Clinvar	11194591	100.0	G	A	PASS	0/1	81	None	None	None	0.09724	0.09724					None None	None None None None	MTOR\|0.997612705\|0.59%
	View	6424_s25	1	rs3737611 dbSNP Clinvar	11186897	100.0	A	G	PASS	0/1	62	None	None	None	0.17272	0.17270	0.09488				None None	None None None None	MTOR\|0.997612705\|0.59%
	View	6424_s25	1	rs868080 dbSNP Clinvar	11184489	100.0	C	T	PASS	0/1	50	None	None	None	0.15875	0.15870					None None	None None None None	MTOR\|0.997612705\|0.59%
	View	6424_s25	1	rs17235633 dbSNP Clinvar	11181457	100.0	G	T	PASS	0/1	160	None	None	None	0.09704	0.09704	0.05098				None None	None None None None	MTOR\|0.997612705\|0.59%
	View	6424_s25	1	rs17235654 dbSNP Clinvar	11174331	100.0	T	C	PASS	0/1	77	None	None	None	0.10463	0.10460	0.05920				None None	None None None None	MTOR\|0.997612705\|0.59%
	View	6424_s25	X	rs1006269 dbSNP Clinvar	107865895	100.0	A	G	PASS	0/1	37	None	None	None							None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	6424_s25	18	rs62092442 dbSNP Clinvar	52922000	100.0	T	C	PASS	0/1	74	None	None	None	0.30691	0.30690					None None	None None None None	TCF4\|0.999272266\|0.38%
	View	6424_s25	18	rs1539951 dbSNP Clinvar	52921673	100.0	T	C	PASS	0/1	96	None	None	None	0.22185	0.22180					None None	None None None None	TCF4\|0.999272266\|0.38%
	View	6424_s25	18	rs1539950 dbSNP Clinvar	52921606	100.0	C	T	PASS	0/1	95	None	None	None	0.22085	0.22080					None None	None None None None	TCF4\|0.999272266\|0.38%
TCF4
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	6424_s25	18	rs8766 dbSNP Clinvar	52895531	100.0	T	C	PASS	0/1	61	SYNONYMOUS_CODING	LOW	None	0.34245	0.34250	0.36468				None None	None None None None	TCF4\|0.999272266\|0.38%
WNT9B
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	6424_s25	17	rs4968281 dbSNP Clinvar	44950122	100.0	T	C	PASS	1/1	81	NON_SYNONYMOUS_CODING	MODERATE	None	0.70707	0.70710	0.20855	0.46	0.00		None None	None None None None	WNT9B\|0.216421213\|34.84%
KRT16
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	6424_s25	17	rs7226192 dbSNP Clinvar	39768874	100.0	C	T	PASS	0/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.01857	0.01857	0.01595	0.20	0.86		None None	None None None None	KRT16\|0.063740015\|58.95%
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	6424_s25	17	rs2100509 dbSNP Clinvar	39767836	100.0	G	A	PASS	0/1	64	None	None	None	0.71805	0.71810	0.43364				None None	None None None None	KRT16\|0.063740015\|58.95%
KRT16
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	6424_s25	17	rs4796681 dbSNP Clinvar	39767744	100.0	A	G	PASS	0/1	111	SYNONYMOUS_CODING	LOW	None	0.77416	0.77420	0.37168				None None	None None None None	KRT16\|0.063740015\|58.95%
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	6424_s25	17	rs7406899 dbSNP Clinvar	39766504	100.0	A	G	PASS	1/1	60	None	None	None	0.98742	0.98740	0.03337				None None	None None None None	KRT16\|0.063740015\|58.95%
	View	6424_s25	17	.	39766399	100.0	CAG	C	PASS	0/1	62	None	None	None							None None	None None None None	KRT16\|0.063740015\|58.95%
KRT15
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	6424_s25	17	rs1050784 dbSNP Clinvar	39674641	100.0	T	C	PASS	0/1	40	NON_SYNONYMOUS_CODING	MODERATE	None	0.73283	0.73280	0.37967	0.58	0.01		None None	None None None None	KRT15\|0.103828379\|50.45%
	View	6424_s25	17	rs897420 dbSNP Clinvar	39670912	100.0	G	C	PASS	0/1	61	NON_SYNONYMOUS_CODING	MODERATE	None	0.97284	0.97280	0.02791	0.62	0.00		None None	None None None None	KRT15\|0.103828379\|50.45%
KRT13
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	6424_s25	17	rs8182306 dbSNP Clinvar	39661689	100.0	G	A	PASS	0/1	50	SYNONYMOUS_CODING	LOW	None	0.85503	0.85500	0.13248				None None	None None None None	KRT13\|0.071438602\|57.11%
	View	6424_s25	17	rs9891361 dbSNP Clinvar	39659913	100.0	G	A	PASS	0/1	78	NON_SYNONYMOUS_CODING	MODERATE	None	0.70527	0.70530	0.30486	0.04	0.78		None None	None None None None	KRT13\|0.071438602\|57.11%
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	6424_s25	17	rs7211835 dbSNP Clinvar	39659529	100.0	T	C	PASS	0/1	48	None	None	None	0.82109	0.82110	0.16654				None None	None None None None	KRT13\|0.071438602\|57.11%
KRT13
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	6424_s25	17	rs4796697 dbSNP Clinvar	39659194	100.0	T	C	PASS	0/1	145	NON_SYNONYMOUS_CODING	MODERATE	None	0.90395	0.90400	0.08496	0.04	0.03		None None	None None None None	KRT13\|0.071438602\|57.11%
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	6424_s25	17	rs4796698 dbSNP Clinvar	39659183	100.0	G	A	PASS	0/1	145	None	None	None	0.79992	0.79990	0.19245				None None	None None None None	KRT13\|0.071438602\|57.11%
	View	6424_s25	17	rs903 dbSNP Clinvar	39657337	100.0	C	A	PASS	0/1	82	None	None	None	0.68970	0.68970					None None	None None None None	KRT13\|0.071438602\|57.11%
	View	6424_s25	17	rs373137125 dbSNP Clinvar	39092876	100.0	C	T	PASS	0/1	33	None	None	None	0.00040	0.00040	0.00054				None None	None None None None	KRT23\|0.054190188\|61.41%
	View	6424_s25	17	rs2269858 dbSNP Clinvar	39092868	100.0	G	A	PASS	1/1	33	None	None	None	0.32248	0.32250	0.23830				None None	None None None None	KRT23\|0.054190188\|61.41%
KRT23
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	6424_s25	17	rs9257 dbSNP Clinvar	39084504	100.0	T	C	PASS	1/1	62	NON_SYNONYMOUS_CODING	MODERATE	None	0.58327	0.58330	0.45002	1.00	0.00		None None	None None None None	KRT23\|0.054190188\|61.41%
	View	6424_s25	17	rs8037 dbSNP Clinvar	39081713	100.0	A	G	PASS	1/1	81	SYNONYMOUS_CODING	LOW	None	0.57089	0.57090	0.44103				None None	None None None None	KRT23\|0.054190188\|61.41%
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	6424_s25	17	rs2269860 dbSNP Clinvar	39081546	100.0	A	G	PASS	1/1	25	None	None	None	0.44908	0.44910					None None	None None None None	KRT23\|0.054190188\|61.41%
KRT12
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	6424_s25	17	rs11650915 dbSNP Clinvar	39023396	100.0	G	A	PASS	0/1	60	NON_SYNONYMOUS_CODING	MODERATE	None	0.30951	0.30950	0.27126	1.00	0.00		None None	None None None None	KRT12\|0.089362402\|53.37%
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	6424_s25	17	rs73983115 dbSNP Clinvar	39022559	100.0	A	G	PASS	0/1	52	None	None	None	0.04413	0.04413					None None	None None None None	KRT12\|0.089362402\|53.37%
KRT24
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	6424_s25	17	rs11309872 dbSNP Clinvar	38858134	100.0	CA	C	PASS	0/1	124	FRAME_SHIFT	HIGH	None	0.46486	0.46490	0.36867				None None	None None None None	KRT24\|0.036955337\|66.8%
	View	6424_s25	17	rs874889 dbSNP Clinvar	38857446	100.0	C	A	PASS	0/1	245	NON_SYNONYMOUS_CODING	MODERATE	None	0.47684	0.47680	0.38090	0.57	0.00		None None	None None None None	KRT24\|0.036955337\|66.8%
	View	6424_s25	17	rs2462961 dbSNP Clinvar	38855772	100.0	T	C	PASS	0/1	118	NON_SYNONYMOUS_CODING	MODERATE	None	0.58067	0.58070	0.48693	1.00	0.00		None None	None None None None	KRT24\|0.036955337\|66.8%
NLRP1
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	6424_s25	17	rs884367 dbSNP Clinvar	5487164	100.0	C	G	PASS	1/1	87	SYNONYMOUS_CODING	LOW	None	0.28315	0.28310	0.12991				None None	None None None None	NLRP1\|0.001451196\|93.02%
	View	6424_s25	17	.	5425076	100.0	AT	GC	PASS	0/1	116	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.00		None None	None None None None	NLRP1\|0.001451196\|93.02%
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	6424_s25	17	rs12944976 dbSNP Clinvar	5424376	100.0	G	A	PASS	0/1	34	None	None	None	0.20288	0.20290	0.32677				None None	None None None None	NLRP1\|0.001451196\|93.02%
	View	6424_s25	17	rs12946467 dbSNP Clinvar	5424129	100.0	C	G	PASS	0/1	56	None	None	None	0.20927	0.20930					None None	None None None None	NLRP1\|0.001451196\|93.02%
ZNF469
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	6424_s25	16	rs4782362 dbSNP Clinvar	88505734	100.0	C	T	PASS	1/1	43	SYNONYMOUS_CODING	LOW	None	0.98722	0.98720	0.01205				None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs4782301 dbSNP Clinvar	88505635	100.0	A	G	PASS	1/1	30	SYNONYMOUS_CODING	LOW	None	0.79633	0.79630	0.22434				None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs904783 dbSNP Clinvar	88504868	100.0	A	G	PASS	1/1	60	NON_SYNONYMOUS_CODING	MODERATE	None	0.99920	0.99920	0.00022		0.00		None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs1000935821 dbSNP Clinvar	88503079	100.0	C	T	PASS	0/1	42	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs1983014 dbSNP Clinvar	88502505	100.0	A	G	PASS	1/1	66	NON_SYNONYMOUS_CODING	MODERATE	None	0.99621	0.99620	0.00483		0.00		None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs3812953 dbSNP Clinvar	88502482	100.0	C	T	PASS	1/1	66	SYNONYMOUS_CODING	LOW	None	0.47005	0.47000					None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs9931465 dbSNP Clinvar	88499539	100.0	C	G	PASS	1/1	77	SYNONYMOUS_CODING	LOW	None	0.77955	0.77960	0.18034				None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs12445417 dbSNP Clinvar	88498297	100.0	T	G	PASS	1/1	49	SYNONYMOUS_CODING	LOW	None	0.84645	0.84640	0.16032				None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs4782300 dbSNP Clinvar	88498221	100.0	C	T	PASS	1/1	59	NON_SYNONYMOUS_CODING	MODERATE	None	0.84425	0.84420	0.12275		0.00		None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs7197071 dbSNP Clinvar	88497446	100.0	A	G	PASS	1/1	91	NON_SYNONYMOUS_CODING	MODERATE	None	0.81889	0.81890	0.18601		0.01		None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs9938800 dbSNP Clinvar	88497400	100.0	G	A	PASS	1/1	43	SYNONYMOUS_CODING	LOW	None	0.90256	0.90260					None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs9924504 dbSNP Clinvar	88497031	100.0	T	C	PASS	1/1	37	SYNONYMOUS_CODING	LOW	None	1.00000	1.00000					None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs12918876 dbSNP Clinvar	88496008	100.0	T	C	PASS	1/1	59	SYNONYMOUS_CODING	LOW	None	0.60443	0.60440					None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs12927001 dbSNP Clinvar	88495654	100.0	A	G	PASS	1/1	23	SYNONYMOUS_CODING	LOW	None	0.87480	0.87480					None None	None None None None	ZNF469\|0.000923153\|95.92%
	View	6424_s25	16	rs7199961 dbSNP Clinvar	88495407	100.0	G	C	PASS	1/1	23	NON_SYNONYMOUS_CODING	MODERATE	None	0.99161	0.99160			0.00		None None	None None None None	ZNF469\|0.000923153\|95.92%
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	6424_s25	16	rs2434895 dbSNP Clinvar	77401684	100.0	T	G	PASS	0/1	124	None	None	None	0.28455	0.28450					None None	None None None None	ADAMTS18\|0.112557021\|48.75%
	View	6424_s25	16	rs1948719 dbSNP Clinvar	77398081	100.0	T	C	PASS	0/1	137	None	None	None	0.29333	0.29330	0.40482				None None	None None None None	ADAMTS18\|0.112557021\|48.75%
	View	6424_s25	16	rs2650907 dbSNP Clinvar	77393207	100.0	G	C	PASS	0/1	50	None	None	None	0.46246	0.46250	0.43660				None None	None None None None	ADAMTS18\|0.112557021\|48.75%
ADAMTS18
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	6424_s25	16	rs8059275 dbSNP Clinvar	77389956	100.0	A	G	PASS	1/1	81	SYNONYMOUS_CODING	LOW	None	0.88219	0.88220	0.12527				None None	None None None None	ADAMTS18\|0.112557021\|48.75%
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	6424_s25	16	rs8058333 dbSNP Clinvar	77389762	100.0	C	T	PASS	0/1	43	None	None	None	0.41054	0.41050					None None	None None None None	ADAMTS18\|0.112557021\|48.75%
ADAMTS18
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	6424_s25	16	rs11640912 dbSNP Clinvar	77359919	100.0	A	T	PASS	0/1	93	NON_SYNONYMOUS_CODING	MODERATE	None	0.43950	0.43950	0.31887	0.00	0.01		None None	None None None None	ADAMTS18\|0.112557021\|48.75%
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	6424_s25	16	rs764667708,rs11410820 dbSNP Clinvar	77359575	100.0	G	GA	PASS	0/1	37	None	None	None							None None	None None None None	ADAMTS18\|0.112557021\|48.75%
	View	6424_s25	16	rs112943550 dbSNP Clinvar	77359569	100.0	TA	T	PASS	0/1	40	None	None	None	0.16534	0.16530					None None	None None None None	ADAMTS18\|0.112557021\|48.75%
ADAMTS18
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	6424_s25	16	rs9930984 dbSNP Clinvar	77353973	100.0	G	T	PASS	0/1	112	NON_SYNONYMOUS_CODING	MODERATE	None	0.63498	0.63500	0.48561	0.12	0.00		None None	None None None None	ADAMTS18\|0.112557021\|48.75%
	View	6424_s25	16	rs35478105 dbSNP Clinvar	77325325	100.0	G	T	PASS	0/1	122	NON_SYNONYMOUS_CODING	MODERATE	None	0.22784	0.22780	0.36819	0.03	0.13		None None	None None None None	ADAMTS18\|0.112557021\|48.75%
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	6424_s25	16	rs12935658 dbSNP Clinvar	16292133	100.0	A	G	PASS	1/1	59	None	None	None	0.31789	0.31790					None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6424_s25	16	rs12935089 dbSNP Clinvar	16292128	100.0	C	T	PASS	1/1	59	None	None	None	0.31789	0.31790					None None	None None None None	ABCC6\|0.022547171\|72.9%

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Summary

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