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Genes:
ABHD12, AC068620.1, ADM, AGAP4, AGAP7, AGPAT2, AHNAK, ALMS1, ANKRD20A1, ANKRD20A3, ANKRD20A4, ANKRD36, ANKRD36C, ANLN, ASXL3, BRCC3, CAPN12, CDC27, CFTR, CPS1, CTBP2, CTSA, DBT, DNHD1, DUX4L4, EP400, ERVW-1, FADS6, FAM104B, FAM186A, FAM27A, FAM27D1, FAM47A, FCGBP, FGD1, FHOD3, FOXD4L5, FOXO6, FRG1B, FRG2C, GCSAML, GOLGA6L10, GOLGA6L18, GOLGA6L19, GOLGA6L2, GOLGA8K, GOLGA8N, GOLGA8O, GOLGA8T, GXYLT1, HLA-A, HNRNPUL2, HYDIN, IGKV1-12, KIAA0430, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KRT1, KRTAP1-3, KRTAP10-7, KRTAP5-1, KRTAP5-10, KRTAP9-1, MADCAM1, MAGEC1, MANEA, MESP2, MICALCL, MRC1L1, MROH8, MRPL28, MT-ATP8, MT-ND2, MUC16, MUC4, MUC6, NACA, NBPF10, NBPF12, NBPF16, NOMO2, NPIPA5, NPIPB3, NUDT18, OPN1MW, PLEKHM1, POTED, PRAMEF13, PRAMEF19, PRAMEF22, PRAMEF5, PRB3, PRKCSH, PSAPL1, RAI1, RAPGEF2, RGPD8, ROBO3, RP11-1407O15.2, SIGLEC14, SIGLEC5, SMARCA2, SPATA31A7, SRSF8, TBC1D3B, TBC1D3H, TMEM145, TPRX1, TRBV10-1, TRBV7-7, UNKL, VCX, ZFHX3, ZNF717, ZNF83, ZNF99,

+ Genes associated with diseases 23

Genes at Omim

ABHD12, AGPAT2, ALMS1, ANLN, ASXL3, CFTR, CPS1, CTSA, DBT, FGD1, HLA-A, HYDIN, KIR3DL1, KRT1, MESP2, OPN1MW, PLEKHM1, PRKCSH, RAI1, RAPGEF2, ROBO3, SMARCA2, ZFHX3,

ABHD12	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
AGPAT2	Lipodystrophy, congenital generalized, type 1, 608594 (3)
ALMS1	Alstrom syndrome, 203800 (3)
ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
ASXL3	Bainbridge-Ropers syndrome, 615485 (3)
CFTR	{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3) {Hypertrypsinemia, neonatal} (3) Congenital bilateral absence of vas deferens, 277180 (3) Cystic fibrosis, 219700 (3) {Pancreatitis, hereditary}, 167800 (3) Sweat chloride elevation without CF (3)
CPS1	Carbamoylphosphate synthetase I deficiency, 237300 (3) {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) {Venoocclusive disease after bone marrow transplantation} (3)
CTSA	Galactosialidosis, 256540 (3)
DBT	Maple syrup urine disease, type II, 248600 (3)
FGD1	Mental retardation, X-linked syndromic 16, 305400 (3) Aarskog-Scott syndrome, 305400 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
KIR3DL1	{AIDS, delayed/rapid progression to}, 609423 (3)
KRT1	Epidermolytic hyperkeratosis, 113800 (3) Ichthyosis histrix, Curth-Macklin type, 146590 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) Keratosis palmoplantaris striata III, 607654 (3) Palmoplantar keratoderma, epidermolytic, 144200 (3) Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
OPN1MW	Blue cone monochromacy, 303700 (3) Colorblindness, deutan, 303800 (3)
PLEKHM1	Osteopetrosis, autosomal dominant 3, 618107 (3) ?Osteopetrosis, autosomal recessive 6, 611497 (3)
PRKCSH	Polycystic liver disease 1, 174050 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
RAPGEF2	?Epilepsy, familial adult myoclonic, 7, 618075 (3)
ROBO3	Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
SMARCA2	Nicolaides-Baraitser syndrome, 601358 (3)
ZFHX3	Prostate cancer, somatic, 176807 (3)

Genes at Clinical Genomics Database

ABHD12, AGPAT2, ALMS1, ANLN, ASXL3, CFTR, CPS1, CTSA, DBT, FGD1, HLA-A, KRT1, MESP2, MT-ATP8, MT-ND2, OPN1MW, PLEKHM1, PRKCSH, RAI1, ROBO3, SMARCA2,

ABHD12	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
AGPAT2	Lipodystrophy, congenital generalized, type 1
ALMS1	Alstrom syndrome
ANLN	Focal segmental glomerulosclerosis 8
ASXL3	Bainbridge-Ropers syndrome
CFTR	Cystic fibrosis
CPS1	Carbamoylphosphate synthetase I deficiency
CTSA	Galactosialidosis
DBT	Maple syrup urine disease, type II
FGD1	Aarskog-Scott syndrome Mental retardation, X-linked syndromic 16
HLA-A	Drug-induced toxicity, susceptibility to
KRT1	Keratosis palmoplantaris striata III Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis histrix, Curth-Macklin type Palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, nonepidermolytic Epidermolytic hyperkeratosis
MESP2	Spondylocostal dysostosis 2, autosomal recessive
MT-ATP8	Brain pseudoatrophy, reversible, valproate-induced, susceptibility to
MT-ND2	Leber hereditary optic neuropathy Mitochondrial complex I deficiency
OPN1MW	Colorblindness, partial, deutan series Cone dystrophy 5, X-linked Blue cone monochromacy
PLEKHM1	Osteopetrosis, autosomal recessive 6
PRKCSH	Polycystic liver disease
RAI1	Smith-Magenis syndrome
ROBO3	Gaze palsy, horizontal, with progressive scoliosis
SMARCA2	Nicolaides-Baraitser syndrome

Genes at HGMD

Summary

Number of Variants: 2573
Number of Genes: 120

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ABHD12
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	father filtered_variants	20	.	25371154	22.58	CAG	C	INDEL_LowQualityDepth;LowQual	0/1	12	FRAME_SHIFT	HIGH								None None	None None None None	ABHD12\|0.092039068\|52.8%
	View	father filtered_variants	20	.	25371158	23.63	G	C	LowQual;SNP_LowQualityDepth;SnpCluster	0/1	12	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.42	0.23		None None	None None None None	ABHD12\|0.092039068\|52.8%
	View	father filtered_variants	20	.	25371149	72.61	CTG	C	PASS	0/1	12	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH								None None	None None None None	ABHD12\|0.092039068\|52.8%
AC068620.1
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	father filtered_variants	4	.	57277065	235.82	TA...	T	PASS	0/1	7	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	PPAT\|0.443666776\|18.5%
ADM
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	father filtered_variants	11	.	10327864	349.27	T	A	SNP_LowQualityDepth;SNP_StrandBias;SnpCluster	0/1	70	None	None	None				0.04	0.00		None None	None None None None	ADM\|0.361967617\|23.3%
AGAP4
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	father filtered_variants	10	.	46322245	41.13	G	T	SNP_MappingQuality	0/1	9	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	AGAP4\|0.00701941\|83.47%
AGAP7
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	father filtered_variants	10	.	51486092	50.44	T	C	SNP_MappingQuality	0/1	3	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.00		None None	None None None None	AGAP7P\|0.001668593\|92.02%
AGPAT2
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	father filtered_variants	9	.	139581758	2441.12	C	CCAG	PASS	0/1	53	CODON_INSERTION	MODERATE		0.04892						None None	None None None None	AGPAT2\|0.018792809\|74.8%
AHNAK
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	father filtered_variants	11	.	62294715	1763.88	C	CTCG	PASS	0/1	171	CODON_INSERTION	MODERATE								None None	None None None None	AHNAK\|0.340600581\|24.81%
	View	father filtered_variants	11	.	62294717	1720.92	A	T	SNP_StrandBias	0/1	180	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.01	0.78		None None	None None None None	AHNAK\|0.340600581\|24.81%
	View	father filtered_variants	11	.	62294721	1561.88	CTG	C	PASS	0/1	190	FRAME_SHIFT	HIGH								None None	None None None None	AHNAK\|0.340600581\|24.81%
ALMS1
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	father filtered_variants	2	.	73613031	2924.86	TG...	T,...	PASS	2/2	29	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE		0.76597						None None	None None None None	ALMS1\|0.012791041\|78.65%
ANKRD20A1
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	father filtered_variants	9	.	67926945	377.89	TC	T	PASS	0/1	9	FRAME_SHIFT	HIGH								None None	None None None None	ANKRD20A1\|0.001623081\|92.24%