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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA12, ABCA2, ABHD17C, AC090616.2, ACE, ADAM29, AGAP7, AL355490.1, ANKRD20A4, ANKRD36C, AP003062.1, AR, ARHGAP33, ARHGEF15, ARHGEF7, ATN1, ATP6V1E2, AVIL, B3GNT3, C20orf197, CARD11, CBWD1, CCDC117, CCDC172, CCL18, CCT2, CD93, CDC27, CHERP, COL1A1, CRIPAK, CSDC2, CSF1R, CSMD1, CTNND2, CYP2D7P, DNAH10, DNHD1, DTNBP1, DUX4, DUX4L3, DUX4L4, DUX4L7, ECM1, EEFSEC, ENTPD2, EP400, ERBB4, ERVW-1, EXD3, FADS2, FADS6, FAM104B, FAM118B, FAM149B1, FAM171B, FAM186A, FAM194A, FAM47A, FASTK, FLG, FOXO6, FRG1, FRG2C, FUT3, GBP6, GMPPB, GPD1, GPR137, GPR162, GXYLT1, HDAC10, HDLBP, HIST1H2BN, HIST1H2BO, HIST2H3D, HLA-A, HLA-C, HLA-DQA2, HLA-DRB5, HNRNPCL1, HOXA10, HTT, IGFN1, IGHG1, IGHV6-1, IGKC, IGKV4-1, IGSF3, INTS1, ITGB4, KCNN3, KIAA0430, KIAA1671, KIF17, KIR2DL3, KIR2DS4, KMT2C, KRT77, KRTAP29-1, KRTAP4-8, KRTAP5-1, KRTAP5-10, KRTAP9-1, LARP7, LRRC37B, LRRC49, LSR, LTBP4, MANEA, MAP3K10, MAST4, MAZ, MEX3B, MON1A, MROH8, MRPS2, MRPS28, MSRB1, MUC16, MUC19, MUC22, MUC4, MUC6, MYLK3, NACA, NEK11, NOS3, NOTCH2, NPLOC4, NRXN3, NSG2, NUDT18, OR10J4, OR2T35, OR52N1, PAN3, PAPPA, PCSK5, PDCD7, PDPR, PGM1, PKHD1, PLCH2, PLEKHG6, POTEF, PRAMEF13, PRAMEF22, PRKRA, PRRC2B, PSAPL1, RAPGEF2, RBM22, RGS11, RIN2, RLIM, RP11-1407O15.2, RPL14, RPTN, RUNX1T1, SACS, SEMA3A, SENP3, SETBP1, SHANK1, SLC22A18AS, SLC45A1, SMPD1, SOX9, SPATA3, SSC5D, ST6GAL1, ST6GALNAC3, STAB2, STEAP2, SYPL2, TCTEX1D1, TG, TLN1, TRBV10-1, TRUB2, TSFM, WIPF3, XPO7, ZBTB46, ZDHHC19, ZFP64, ZNF563, ZNF581, ZNF717,

+ Genes associated with diseases 39

Genes at Omim

ABCA12, ACE, AR, ATN1, CARD11, COL1A1, CSF1R, DTNBP1, ECM1, ERBB4, FLG, FUT3, GMPPB, GPD1, HLA-A, HLA-C, HTT, IGKC, IGSF3, ITGB4, KMT2C, LARP7, LTBP4, MRPS2, NOS3, NOTCH2, PGM1, PRKRA, RAPGEF2, RIN2, RLIM, SACS, SEMA3A, SETBP1, SLC45A1, SMPD1, SOX9, TG, TSFM,

ABCA12	Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3)
ACE	{Microvascular complications of diabetes 3}, 612624 (3) {Myocardial infarction, susceptibility to} (3) {SARS, progression of} (3) {Stroke, hemorrhagic}, 614519 (3) Renal tubular dysgenesis, 267430 (3) [Angiotensin I-converting enzyme, benign serum increase] (3)
AR	Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) Hypospadias 1, X-linked, 300633 (3) {Prostate cancer, susceptibility to}, 176807 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ATN1	Dentatorubro-pallidoluysian atrophy, 125370 (3)
CARD11	B-cell expansion with NFKB and T-cell anergy, 616452 (3) Immunodeficiency 11A, 615206 (3) Immunodeficiency 11B with atopic dermatitis, 617638 (3)
COL1A1	Caffey disease, 114000 (3) Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060 (3) Osteogenesis imperfecta, type I, 166200 (3) Osteogenesis imperfecta, type II, 166210 (3) Osteogenesis imperfecta, type III, 259420 (3) Osteogenesis imperfecta, type IV, 166220 (3) {Bone mineral density variation QTL, osteoporosis}, 166710 (3)
CSF1R	Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
DTNBP1	Hermansky-Pudlak syndrome 7, 614076 (3)
ECM1	Urbach-Wiethe disease, 247100 (3)
ERBB4	Amyotrophic lateral sclerosis 19, 615515 (3)
FLG	Ichthyosis vulgaris, 146700 (3) {Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
FUT3	[Blood group, Lewis] (3)
GMPPB	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
GPD1	Hypertriglyceridemia, transient infantile, 614480 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
IGKC	Kappa light chain deficiency, 614102 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
ITGB4	Epidermolysis bullosa of hands and feet, 131800 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
LARP7	Alazami syndrome, 615071 (3)
LTBP4	Cutis laxa, autosomal recessive, type IC, 613177 (3)
MRPS2	Combined oxidative phosphorylation deficiency 36, 617950 (3)
NOS3	{Hypertension, pregnancy-induced}, 189800 (3) {Hypertension, susceptibility to}, 145500 (3) {Ischemic stroke, susceptibility to}, 601367 (3) {Placental abruption} (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) {Coronary artery spasm 1, susceptibility to} (3)
NOTCH2	Alagille syndrome 2, 610205 (3) Hajdu-Cheney syndrome, 102500 (3)
PGM1	Congenital disorder of glycosylation, type It, 614921 (3)
PRKRA	Dystonia 16, 612067 (3)
RAPGEF2	?Epilepsy, familial adult myoclonic, 7, 618075 (3)
RIN2	Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RLIM	Tonne-Kalscheuer syndrome, 300978 (3)
SACS	Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SEMA3A	{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
SETBP1	Mental retardation, autosomal dominant 29, 616078 (3) Schinzel-Giedion midface retraction syndrome, 269150 (3)
SLC45A1	Intellectual developmental disorder with neuropsychiatric features, 617532 (3)
SMPD1	Niemann-Pick disease, type A, 257200 (3) Niemann-Pick disease, type B, 607616 (3)
SOX9	Campomelic dysplasia with autosomal sex reversal, 114290 (3) Campomelic dysplasia, 114290 (3) Acampomelic campomelic dysplasia, 114290 (3)
TG	Thyroid dyshormonogenesis 3, 274700 (3) {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TSFM	Combined oxidative phosphorylation deficiency 3, 610505 (3)

Genes at Clinical Genomics Database

ABCA12, ACE, AR, ATN1, CARD11, COL1A1, CSF1R, DTNBP1, DUX4, ECM1, ERBB4, FLG, FUT3, GMPPB, GPD1, HLA-A, HTT, IGKC, IGSF3, ITGB4, LARP7, LTBP4, NOTCH2, PGM1, PKHD1, PRKRA, RIN2, SACS, SEMA3A, SETBP1, SMPD1, SOX9, TG, TSFM,

ABCA12	Ichthyosis, harlequin Ichthyosis, lamellar, type 2
ACE	Renal tubular dysgenesis ACE serum levels
AR	Androgen insensitivity Androgen insensitivity, partial
ATN1	Dentatorubro-pallidoluysian atrophy
CARD11	B-cell expansion with NFKB and T-cell anergy Immunodeficiency 11
COL1A1	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type VII, autosomal dominant
CSF1R	Leukoencephalopathy, diffuse hereditary, with spheroids
DTNBP1	Hermansky-Pudlak syndrome 7
DUX4	Facioscapulohumeral muscular dystrophy, type 2
ECM1	Lipoid proteinosis
ERBB4	Amyotrophic lateral sclerosis 19
FLG	Icthyosis vulgaris
FUT3	Blood group, Lewis
GMPPB	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 Limb-girdle muscular dystrophy-dystroglycanopathy, type B, 14 Limb-girdle muscular dystrophy-dystroglycanopathy, type C, 14
GPD1	Hypertriglyceridemia, transient infantile
HLA-A	Drug-induced toxicity, susceptibility to
HTT	Huntington disease
IGKC	Immunoglobulin kappa light chain deficiency
IGSF3	Lacrimal duct defect
ITGB4	Epidermolysis bullosa, junctional, with pyloric atresia Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa simplex, Weber-Cockayne type
LARP7	Alazami syndrome
LTBP4	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
NOTCH2	Alagille syndrome 2
PGM1	Congenital disorder of glycosylation, type It
PKHD1	Polycystic kidney disease, autosomal recessive
PRKRA	Dystonia 16
RIN2	Macrocephaly, alopecia, cutis laxa, and scoliosis
SACS	Spastic ataxia, Charlevoix-Saguenay type
SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia
SETBP1	Mental retardation, autosomal dominant 29 Schinzel-Giedion midface retraction syndrome
SMPD1	Niemann-Pick disease, type A Niemann-Pick disease, type B
SOX9	46, XY sex reversal 10 Campomelic dysplasia
TG	Thyroid dyshormonogenesis 3
TSFM	Combined oxidative phosphorylation deficiency 3

Genes at HGMD

Summary

Number of Variants: 4932
Number of Genes: 190

Export to: CSV

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ABCA12
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	combined sample_61.variant23	2	.	215798889	1671.6	T	G	PASS	0/1	87	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABCA12\|0.403146751\|20.59%
	View	combined sample_61.variant23	2	.	215798890	1671.6	C	A	PASS	0/1	87	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.92		None None	None None None None	ABCA12\|0.403146751\|20.59%
ABCA2
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	combined sample_61.variant23	9	.	139905039	117.27	A	C	PASS	0/1	30	None	None	None							None None	None None None None	ABCA2\|0.074227496\|56.47%
ABHD17C
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	combined sample_61.variant23	15	.	80987935	433.46	C	CG...	PASS	0/1	33	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	ABHD17C\|0.053788984\|61.53%
AC090616.2
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	combined sample_61.variant23	17	.	30469470	167.94	CC...	CC...	PASS	0/1	21	GENE_FUSION_REVERESE	HIGH	None							None None	None None None None	None
ACE
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	combined sample_61.variant23	17	.	61568695	1213.43	G	T	PASS	0/1	103	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ACE\|0.894558224\|3.56%
ADAM29
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	combined sample_61.variant23	4	.	175899001	4336.78	T	TC...	PASS	0/1	99	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	ADAM29\|0.000578944\|98.03%
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	combined sample_61.variant23	10	.	51465444	74.83	C	T	DRAGENHardSNP	0/1	123	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	AGAP7P\|0.001668593\|92.02%
AL355490.1
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	combined sample_61.variant23	10	.	99184628	443.34	G	A	PASS	0/1	24	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	None
ANKRD20A4
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	combined sample_61.variant23	9	.	69423615	38.63	A	T	DRAGENHardSNP	0/1	73	SYNONYMOUS_CODING	LOW	None			0.00008				None None	None None None None	ANKRD20A4\|0.002453356\|89.79%
	View	combined sample_61.variant23	9	.	69423519	115.37	C	A	DRAGENHardSNP	0/1	47	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	ANKRD20A4\|0.002453356\|89.79%
	View	combined sample_61.variant23	9	.	69423521	115.37	T	C	DRAGENHardSNP	0/1	47	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.07		None None	None None None None	ANKRD20A4\|0.002453356\|89.79%
	View	combined sample_61.variant23	9	.	69423700	499.42	G	A	DRAGENHardSNP	0/1	24	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	ANKRD20A4\|0.002453356\|89.79%