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Genes:
ACOT12, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS2, ADCY2, ADRB2, AFF4, AGXT2, AMACR, ANKRD31, ANKRD33B, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, APBB3, APC, AQPEP, ARHGAP26, ARHGEF28, ARHGEF37, ARL14EPL, ARL15, ARSB, ATP10B, B4GALT7, BDP1, BHMT2, BRD8, BTF3, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf20, C5orf22, C5orf34, C5orf45, C5orf46, C5orf47, C5orf49, C5orf58, C5orf60, C6, C7, C9, CAMK2A, CAMK4, CAPSL, CAST, CATSPER3, CCDC125, CCDC152, CCDC69, CCNB1, CCNH, CCNJL, CCT5, CD180, CDC20B, CDC25C, CDH12, CDH18, CDH6, CDH9, CDHR2, CEP120, CEP72, CHD1, CHSY3, CMBL, CMYA5, CNOT6, COL23A1, COMMD10, CSF1R, CSF2, CTNND2, CTXN3, CWC27, CYFIP2, DAB2, DBN1, DCP2, DCTN4, DDX4, DDX41, DHX29, DMGDH, DMXL1, DNAH5, DNAJC18, DNAJC21, DOCK2, DOK3, DRD1, DROSHA, DUSP1, EDIL3, EFCAB9, EGFLAM, ENC1, EPB41L4A, ERAP1, ERAP2, ERBB2IP, ERCC8, F12, F2RL1, FAM114A2, FAM134B, FAM13B, FAM151B, FAM159B, FAM170A, FAM173B, FAM174A, FAM193B, FAM81B, FASTKD3, FAT2, FAXDC2, FBN2, FBXL17, FBXL21, FBXO38, FCHO2, FER, FGF1, FGFR4, FLT4, FNDC9, FNIP1, GABRA6, GCNT4, GDF9, GEMIN5, GFM2, GFPT2, GHR, GM2A, GNPDA1, GPBP1, GPR98, GPX3, GPX8, GRAMD3, GRIA1, GRK6, GRM6, GRXCR2, GZMA, HAPLN1, HAVCR1, HAVCR2, HCN1, HDAC3, HEXB, HIGD2A, HINT1, HK3, HMGCS1, HMGXB3, HMMR, HSPA9, HSPB3, IL13, IL31RA, IL6ST, IL7R, IL9, IPO11, IQGAP2, IRF1, IRGM, IRX1, IRX2, IRX4, ISOC1, ITGA1, ITGA2, JMY, KCNN2, KDM3B, KIAA0825, KIF4B, KLHL3, LCP2, LECT2, LHFPL2, LIFR, LNPEP, LPCAT1, LYSMD3, MAML1, MAN2A1, MAP3K1, MARVELD2, MAST4, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MEGF10, MFAP3, MIER3, MROH2B, MRPL22, MRPS30, MSH3, MSX2, MTRR, MXD3, MYO10, MYOT, NAIP, NDST1, NDUFAF2, NDUFS4, NIM1K, NIPAL4, NKX2-5, NLN, NMUR2, NNT, NOP16, NRG2, NSA2, NSD1, NUDT12, NUP155, OR2V2, OR2Y1, OSMR, OTP, PAPD7, PARP8, PCDH1, PCDH12, PCDHA1, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHAC1, PCDHAC2, PCDHB11, PCDHB13, PCDHB15, PCDHB4, PCDHB5, PCDHB6, PCDHB8, PCDHGA1, PCDHGA10, PCDHGA2, PCDHGA7, PCDHGB3, PCDHGB7, PCDHGC3, PCSK1, PDE6A, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PIK3R1, PITX1, PJA2, PKD2L2, PLEKHG4B, PLK2, PPARGC1B, PPIC, PPWD1, PRELID1, PROP1, PRR16, PRRC1, PWWP2A, RAI14, RANBP3L, RAPGEF6, RARS, RASGEF1C, RASGRF2, RBM22, RGS7BP, RICTOR, RIOK2, SCAMP1, SEPP1, SEPT8, SETD9, SFXN1, SGCD, SH3RF2, SH3TC2, SHROOM1, SLC12A7, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A7, SLCO4C1, SLCO6A1, SLIT3, SLU7, SMAD5, SNX18, SOWAHA, SPATA24, SPEF2, SPINK5, SPINK6, SQSTM1, SRA1, SRD5A1, STK10, STK32A, SV2C, TBC1D9B, TCERG1, TCOF1, TENM2, TERT, TGFBI, THBS4, THG1L, TIFAB, TIGD6, TIMD4, TMEM161B, TMEM171, TMEM173, TNIP1, TNPO1, TPPP, TRIM36, TRIM52, TRIM7, TRIO, TRPC7, TSPAN17, TTC23L, TTC37, UIMC1, VCAN, WDR36, WDR41, WDR55, WNT8A, WWC1, YTHDC2, ZCCHC9, ZFP2, ZFR, ZFYVE16, ZNF131, ZNF354A, ZNF354C, ZNF366, ZNF454, ZNF474,

+ Genes associated with diseases 102

Genes at Omim

ADAMTS2, ADRB2, AFF4, AGXT2, AMACR, AP3B1, APC, ARHGAP26, ARSB, B4GALT7, BDP1, C6, C7, C9, CAMK2A, CAST, CCT5, CEP120, CHD1, CSF1R, CWC27, CYFIP2, DDX41, DMGDH, DNAH5, DNAJC21, DOCK2, ERCC8, F12, FAM134B, FAT2, FBN2, FBXO38, FGFR4, FLT4, GDF9, GHR, GM2A, GRM6, GRXCR2, HCN1, HEXB, HINT1, HMMR, HSPA9, HSPB3, IL13, IL31RA, IL7R, IRF1, IRGM, ITGA2, KLHL3, LIFR, MAP3K1, MARVELD2, MCC, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NIPAL4, NKX2-5, NNT, NSD1, NUP155, OSMR, PCDH12, PCSK1, PDE6A, PDE8B, PDGFRB, PIK3R1, PITX1, PPARGC1B, PROP1, RARS, SGCD, SH3TC2, SLC22A4, SLC22A5, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SPINK5, SQSTM1, TCOF1, TERT, TGFBI, TMEM173, TRIM36, TRIO, TTC37, VCAN, WDR36, WWC1,

ADAMTS2	Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ADRB2	Beta-2-adrenoreceptor agonist, reduced response to (3) {Obesity, susceptibility to}, 601665 (3) {Asthma, nocturnal, susceptibility to}, 600807 (3)
AFF4	CHOPS syndrome, 616368 (3)
AGXT2	[Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
AMACR	Alpha-methylacyl-CoA racemase deficiency, 614307 (3) Bile acid synthesis defect, congenital, 4, 214950 (3)
AP3B1	Hermansky-Pudlak syndrome 2, 608233 (3)
APC	Adenoma, periampullary, somatic (3) Adenomatous polyposis coli, 175100 (3) Gardner syndrome, 175100 (3) Gastric cancer, somatic, 613659 (3) Brain tumor-polyposis syndrome 2, 175100 (3) Hepatoblastoma, somatic, 114550 (3) Colorectal cancer, somatic, 114500 (3) Desmoid disease, hereditary, 135290 (3)
ARHGAP26	Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
B4GALT7	Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)
BDP1	?Deafness, autosomal recessive 112, 618257 (3)
C6	C6 deficiency, 612446 (3) Combined C6/C7 deficiency (3)
C7	C7 deficiency, 610102 (3)
C9	C9 deficiency, 613825 (3) {Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
CAMK2A	Mental retardation, autosomal dominant 53, 617798 (3) ?Mental retardation, autosomal recessive 63, 618095 (3)
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CEP120	Joubert syndrome 31, 617761 (3) Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
CHD1	Pilarowski-Bjornsson syndrome, 617682 (3)
CSF1R	Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CWC27	Retinitis pigmentosa with or without skeletal anomalies, 250410 (3)
CYFIP2	Epileptic encephalopathy, early infantile, 65, 618008 (3)
DDX41	{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)
DMGDH	Dimethylglycine dehydrogenase deficiency, 605850 (3)
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAJC21	Bone marrow failure syndrome 3, 617052 (3)
DOCK2	Immunodeficiency 40, 616433 (3)
ERCC8	Cockayne syndrome, type A, 216400 (3) UV-sensitive syndrome 2, 614621 (3)
F12	Factor XII deficiency, 234000 (3) Angioedema, hereditary, type III, 610618 (3)
FAM134B	Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FAT2	Spinocerebellar ataxia 45, 617769 (3)
FBN2	Contractural arachnodactyly, congenital, 121050 (3) Macular degeneration, early-onset, 616118 (3)
FBXO38	Neuronopathy, distal hereditary motor, type IID, 615575 (3)
FGFR4	{Cancer progression/metastasis} (3)
FLT4	Hemangioma, capillary infantile, somatic, 602089 (3) Lymphatic malformation 1, 153100 (3)
GDF9	?Premature ovarian failure 14, 618014 (3)
GHR	{Hypercholesterolemia, familial, modifier of}, 143890 (3) Growth hormone insensitivity, partial, 604271 (3) Increased responsiveness to growth hormone, 604271 (3) Laron dwarfism, 262500 (3)
GM2A	GM2-gangliosidosis, AB variant, 272750 (3)
GRM6	Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
GRXCR2	?Deafness, autosomal recessive 101, 615837 (3)
HCN1	Epileptic encephalopathy, early infantile, 24, 615871 (3)
HEXB	Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
HINT1	Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
HMMR	{Breast cancer, susceptibility to}, 114480 (3)
HSPA9	Anemia, sideroblastic, 4, 182170 (3) Even-plus syndrome, 616854 (3)
HSPB3	?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
IL13	{Allergic rhinitis, susceptibility to}, 607154 (3) {Asthma, susceptibility to}, 600807 (3)
IL31RA	?Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IL7R	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
IRF1	Gastric cancer, somatic, 613659 (3) Myelodysplastic syndrome, preleukemic (3) Myelogenous leukemia, acute (3) Nonsmall cell lung cancer, somatic, 211980 (3)
IRGM	{Inflammatory bowel disease (Crohn disease) 19}, 612278 (3) {Mycobacterium tuberculosis, protection against}, 607948 (3)
ITGA2	?Glycoprotein Ia deficiency, 614200 (1)
KLHL3	Pseudohypoaldosteronism, type IID, 614495 (3)
LIFR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MARVELD2	Deafness, autosomal recessive 49, 610153 (3)
MCC	Colorectal cancer, somatic, 114500 (3)
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
MEGF10	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3) Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
MSH3	Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3)
MSX2	Craniosynostosis 2, 604757 (3) Parietal foramina 1, 168500 (3) Parietal foramina with cleidocranial dysplasia, 168550 (3)
MTRR	Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYOT	Myopathy, myofibrillar, 3, 609200 (3) Myopathy, spheroid body, 182920 (3)
NDST1	Mental retardation, autosomal recessive 46, 616116 (3)
NDUFAF2	Mitochondrial complex I deficiency, nuclear type 10, 618233 (3)
NDUFS4	Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)
NIPAL4	Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
NKX2-5	Atrial septal defect 7, with or without AV conduction defects, 108900 (3) Hypoplastic left heart syndrome 2, 614435 (3) Hypothyroidism, congenital nongoitrous, 5, 225250 (3) Conotruncal heart malformations, variable, 217095 (3) Tetralogy of Fallot, 187500 (3) Ventricular septal defect 3, 614432 (3)
NNT	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
NSD1	Leukemia, acute myeloid, 601626 (1) Sotos syndrome 1, 117550 (3)
NUP155	?Atrial fibrillation 15, 615770 (3)
OSMR	Amyloidosis, primary localized cutaneous, 1, 105250 (3)
PCDH12	Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCSK1	{Obesity, susceptibility to, BMIQ12}, 612362 (3) Obesity with impaired prohormone processing, 600955 (3)
PDE6A	Retinitis pigmentosa 43, 613810 (3)
PDE8B	Pigmented nodular adrenocortical disease, primary, 3, 614190 (3) Striatal degeneration, autosomal dominant, 609161 (3)
PDGFRB	Basal ganglia calcification, idiopathic, 4, 615007 (3) Kosaki overgrowth syndrome, 616592 (3) Myeloproliferative disorder with eosinophilia, 131440 (4) Myofibromatosis, infantile, 1, 228550 (3) Premature aging syndrome, Penttinen type, 601812 (3)
PIK3R1	Immunodeficiency 36, 616005 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) SHORT syndrome, 269880 (3)
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3) Liebenberg syndrome, 186550 (4)
PPARGC1B	{Obesity, variation in}, 601665 (3)
PROP1	Pituitary hormone deficiency, combined, 2, 262600 (3)
RARS	Leukodystrophy, hypomyelinating, 9, 616140 (3)
SGCD	Cardiomyopathy, dilated, 1L, 606685 (3) Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 (3)
SH3TC2	Charcot-Marie-Tooth disease, type 4C, 601596 (3) Mononeuropathy of the median nerve, mild, 613353 (3)
SLC22A4	{Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC22A5	Carnitine deficiency, systemic primary, 212140 (3)
SLC26A2	Atelosteogenesis, type II, 256050 (3) Achondrogenesis Ib, 600972 (3) De la Chapelle dysplasia, 256050 (3) Diastrophic dysplasia, 222600 (3) Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3) Epiphyseal dysplasia, multiple, 4, 226900 (3)
SLC36A2	Hyperglycinuria, 138500 (3) Iminoglycinuria, digenic, 242600 (3)
SLC45A2	Albinism, oculocutaneous, type IV, 606574 (3) [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3) [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3) [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19	Hartnup disorder, 234500 (3) Hyperglycinuria, 138500 (3) Iminoglycinuria, digenic, 242600 (3)
SPINK5	Netherton syndrome, 256500 (3)
SQSTM1	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3) Myopathy, distal, with rimmed vacuoles, 617158 (3) Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3) Paget disease of bone 3, 167250 (3)
TCOF1	Treacher Collins syndrome 1, 154500 (3)
TERT	{Leukemia, acute myeloid}, 601626 (3) {Melanoma, cutaneous malignant, 9}, 615134 (3) {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3) {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3) {Dyskeratosis congenita, autosomal recessive 4}, 613989 (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)
TMEM173	STING-associated vasculopathy, infantile-onset, 615934 (3)
TRIM36	?Anencephaly, 206500 (3)
TRIO	Mental retardation, autosomal dominant 44, 617061 (3)
TTC37	Trichohepatoenteric syndrome 1, 222470 (3)
VCAN	Wagner syndrome 1, 143200 (3)
WDR36	Glaucoma 1, open angle, G, 609887 (3)
WWC1	[Memory, enhanced, QTL], 615602 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADRB2, AFF4, AMACR, AP3B1, APC, ARSB, B4GALT7, C6, C7, C9, CAST, CCT5, CEP120, CSF1R, DDX41, DMGDH, DNAH5, DOCK2, ERCC8, F12, FAM134B, FBN2, FBXO38, FLT4, GHR, GM2A, GRM6, GRXCR2, HCN1, HEXB, HSPA9, HSPB3, IL31RA, IL7R, KLHL3, LIFR, MAP3K1, MARVELD2, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NIPAL4, NKX2-5, NNT, NSD1, NUP155, OSMR, PCSK1, PDE6A, PDE8B, PDGFRB, PIK3R1, PITX1, PROP1, RARS, SGCD, SH3TC2, SLC22A5, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SPINK5, SQSTM1, TCOF1, TERT, TGFBI, TMEM173, TTC37, VCAN,

ADAMTS2	Ehlers-Danlos syndrome, type VII
ADRB2	Beta-2-adrenoreceptor agonist, reduced response to
AFF4	Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia (CHOPS syndrome)
AMACR	Bile acid synthesis defect, congenital, 4 Alpha-methylacyl-CoA racemase deficiency
AP3B1	Hermansky-Pudlak syndrome 2
APC	Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)
B4GALT7	Ehlers-Danlos syndrome with short stature and limb anomalies
C6	Complement component 6 deficiency
C7	Complement component 7 deficiency
C9	Complement component 9 deficiency
CAST	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCT5	Neuropathy, hereditary sensory, with spastic paraplegia
CEP120	Short-rib thoracic dysplasia 13 with or without polydactyly
CSF1R	Leukoencephalopathy, diffuse hereditary, with spheroids
DDX41	Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
DMGDH	Dimethylglycine dehydrogenase deficiency
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK2	Immunodeficiency 40
ERCC8	UV-sensitive syndrome 2 Cockayne syndrome type A
F12	Angioedema, hereditary, type III
FAM134B	Neuropathy, hereditary sensory and autonomic, type IIB
FBN2	Congenital contractural arachnodactyly (Beals syndrome)
FBXO38	Neuronopathy, distal hereditary motor, type IID
FLT4	Lymphedema, hereditary I (Milory disease)
GHR	Growth hormone insensitivity syndrome (Laron syndrome)
GM2A	GM2-gangliosidosis, AB variant
GRM6	Night blindness, congenital stationary, type 1B
GRXCR2	Deafness, autosomal recessive 101
HCN1	Epileptic encephalopathy, early infantile, 24
HEXB	Sandhoff disease
HSPA9	Anemia, sideroblastic 4
HSPB3	Neuronopathy, distal hereditary motor, type IIC
IL31RA	Amyloidois, primary localized cutaneous, 2
IL7R	Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
KLHL3	Pseudohypoaldosteronism, type IID
LIFR	Stuve-Wiedemann syndrome
MAP3K1	46,XY sex reversal 6
MARVELD2	Deafness, autosomal recessive 49
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency
MEGF10	Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
MSH3	Endometrial carcinoma
MSX2	Craniosynostosis, type 2 Parietal foramina with cleidocranial dysplasia Parietal foramina 1
MTRR	Homocystinuria-megaloblastic anemia, cobalamin E type
MYOT	Myopathy, myofibrillar, 3
NDST1	Mental retardation, autosomal recessive 46
NDUFAF2	Mitochondrial complex I deficiency Leigh syndrome
NDUFS4	Mitochondrial complex I deficiency Leigh syndrome
NIPAL4	Ichthyosis, congenital, autosomal recessive
NKX2-5	Atrial septal defect 7, with or without AV conduction defects Conotruncal heart malformations Hypothyroidism, congenital nongoitrous, 5
NNT	Glucocorticoid deficiency 4
NSD1	Sotos syndrome Weaver syndrome Beckwith-Wiedemann syndrome
NUP155	Atrial fibrillation 15
OSMR	Amyloidosis, primary localized cutaneous, 1
PCSK1	Proprotein convertase 1/3 deficiency
PDE6A	Retinitis pigmentosa 43
PDE8B	Pigmented nodular adrenocortical disease, primary, 3
PDGFRB	Basal ganglia calcification, idiopathic, 4 Kosaki overgrowth syndrome Myofibromatosis, infantile 1 Premature aging syndrome, Penttinen type
PIK3R1	Agammaglobulinemia 7, autosomal recessive
PITX1	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Liebenberg syndrome
PROP1	Pituitary hormone deficiency, combined, 2
RARS	Leukodystrophy, hypomyelinating 9
SGCD	Cardiomyopathy, dilated, 1L Muscular dystrophy, limb-girdle, type 2F
SH3TC2	Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild
SLC22A5	Carnitine deficiency, systemic primary
SLC26A2	Achondrogenesis, type IB Atelosteogenesis II De la Chapelle dysplasia Diastrophic dysplasia Epiphyseal dysplasia, multiple, 4
SLC36A2	Hyperglycinuria Iminoglycinuria Iminoglycinuria, digenic
SLC45A2	Oculocutaneous albinism, type IV Skin/hair/eye pigmentation 5
SLC6A19	Hartnup disease
SPINK5	Netherton syndrome
SQSTM1	Paget disease of bone 3
TCOF1	Treacher Collins syndrome 1
TERT	Aplastic anemia Dyskeratosis congenita, autosomal dominant Dyskeratosis congenita, autosomal recessive Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
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
TMEM173	STING-associated vasculopathy, infantile-onsent (SAVI)
TTC37	Trichohepatoenteric syndrome 1
VCAN	Wagner syndrome 1

Genes at HGMD

Summary

Number of Variants: 1473
Number of Genes: 384

Export to: CSV

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ACOT12
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	tsvc_variants_ionxpress_001-5225	5	rs148630854 dbSNP Clinvar	80626334	114.702	C	G	PASS	0/1	39	NON_SYNONYMOUS_CODING	MODERATE	None	0.00379	0.00379	0.00408	0.01	0.13		None None	None None None None	ACOT12\|0.05645284\|60.8%
ACTBL2
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	tsvc_variants_ionxpress_001-5225	5	rs16886992 dbSNP Clinvar	56777677	75.3815	G	A	PASS	0/1	59	SYNONYMOUS_CODING	LOW	None	0.06849	0.06849	0.07958				None None	None None None None	ACTBL2\|0.152729251\|42.58%
ADAM19
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	tsvc_variants_ionxpress_001-5225	5	rs1422795 dbSNP Clinvar	156936364	172.128	T	C	PASS	0/1	70	NON_SYNONYMOUS_CODING	MODERATE	None	0.41454	0.41450	0.42873	0.23	0.29		None None	None None None None	ADAM19\|0.121857186\|47.16%
ADAMTS12
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	tsvc_variants_ionxpress_001-5225	5	rs3813474 dbSNP Clinvar	33576602	1034.56	A	G	PASS	1/1	113	NON_SYNONYMOUS_CODING	MODERATE	None	0.05132	0.05132	0.07720	0.56	0.00		None None	None None None None	ADAMTS12\|0.089192289\|53.4%
	View	tsvc_variants_ionxpress_001-5225	5	rs25754 dbSNP Clinvar	33535060	219.176	G	A	PASS	0/1	76	NON_SYNONYMOUS_CODING	MODERATE	None	0.59964	0.59960	0.46125	0.19	0.04		None None	None None None None	ADAMTS12\|0.089192289\|53.4%
	View	tsvc_variants_ionxpress_001-5225	5	rs117518215 dbSNP Clinvar	33881252	101.599	G	A	PASS	0/1	38	NON_SYNONYMOUS_CODING	MODERATE	None	0.03255	0.03255	0.00738	0.13	0.83		None None	None None None None	ADAMTS12\|0.089192289\|53.4%
ADAMTS16
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	tsvc_variants_ionxpress_001-5225	5	rs11742370 dbSNP Clinvar	5240002	162.196	C	A	PASS	0/1	43	SYNONYMOUS_CODING	LOW	None	0.11342	0.11340	0.14171				None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	tsvc_variants_ionxpress_001-5225	5	rs2086310 dbSNP Clinvar	5146335	431.122	C	G	PASS	1/1	50	NON_SYNONYMOUS_CODING	MODERATE	None	0.69549	0.69550	0.24077	1.00	0.00		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	tsvc_variants_ionxpress_001-5225	5	rs1863968 dbSNP Clinvar	5146395	551.574	A	G	PASS	1/1	59	NON_SYNONYMOUS_CODING	MODERATE	None	0.48283	0.48280	0.44804	0.06	0.00		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	tsvc_variants_ionxpress_001-5225	5	rs6555335 dbSNP Clinvar	5200281	431.265	C	T	PASS	1/1	47	SYNONYMOUS_CODING	LOW	None	0.72524	0.72520	0.29491				None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	tsvc_variants_ionxpress_001-5225	5	rs11742341 dbSNP Clinvar	5239921	159.568	C	T	PASS	0/1	55	SYNONYMOUS_CODING	LOW	None	0.11462	0.11460	0.14480				None None	None None None None	ADAMTS16\|0.017832591\|75.4%
ADAMTS2
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	tsvc_variants_ionxpress_001-5225	5	rs1054480 dbSNP Clinvar	178540975	368.923	G	A	PASS	1/1	40	NON_SYNONYMOUS_CODING	MODERATE	None	0.26378	0.26380	0.22174	0.71	0.08		None None	None None None None	ADAMTS2\|0.325728261\|25.76%
	View	tsvc_variants_ionxpress_001-5225	5	rs398829 dbSNP Clinvar	178634672	151.758	C	T	PASS	0/1	72	NON_SYNONYMOUS_CODING	MODERATE	None	0.43191	0.43190	0.32516	0.48	0.00		None None	None None None None	ADAMTS2\|0.325728261\|25.76%
	View	tsvc_variants_ionxpress_001-5225	5	rs423552 dbSNP Clinvar	178634619	628.451	C	T	PASS	1/1	71	SYNONYMOUS_CODING	LOW	None	0.92452	0.92450	0.08473				None None	None None None None	ADAMTS2\|0.325728261\|25.76%
ADCY2
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	tsvc_variants_ionxpress_001-5225	5	rs79684971 dbSNP Clinvar	7826853	162.601	G	A	PASS	0/1	79	NON_SYNONYMOUS_CODING	MODERATE	None	0.02256	0.02256	0.00730	1.00	0.01		None None	None None None None	ADCY2\|0.904669113\|3.35%
	View	tsvc_variants_ionxpress_001-5225	5	rs13166360 dbSNP Clinvar	7520881	83.9517	G	T	PASS	0/1	48	NON_SYNONYMOUS_CODING	MODERATE	None	0.09165	0.09165	0.19445	0.05	0.26		None None	None None None None	ADCY2\|0.904669113\|3.35%
	View	tsvc_variants_ionxpress_001-5225	5	rs62342477 dbSNP Clinvar	7743787	137.733	C	T	PASS	0/1	79	SYNONYMOUS_CODING	LOW	None	0.32368	0.32370	0.49854				None None	None None None None	ADCY2\|0.904669113\|3.35%
ADRB2
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	tsvc_variants_ionxpress_001-5225	5	rs1042719 dbSNP Clinvar	148207447	365.562	G	C	PASS	1/1	45	SYNONYMOUS_CODING	LOW	None	0.37420	0.37420	0.30924				None None	None None None None	ADRB2\|0.766324239\|6.71%
	View	tsvc_variants_ionxpress_001-5225	5	rs1042714 dbSNP Clinvar	148206473	1002.55	G	C	PASS	1/1	108	NON_SYNONYMOUS_CODING	MODERATE	None	0.79573	0.79570	0.34000	0.47	0.01		None None	None None None None	ADRB2\|0.766324239\|6.71%
	View	tsvc_variants_ionxpress_001-5225	5	rs1042720 dbSNP Clinvar	148207633	655.722	G	A	PASS	1/1	71	SYNONYMOUS_CODING	LOW	None	0.50879	0.50880	0.39780				None None	None None None None	ADRB2\|0.766324239\|6.71%
	View	tsvc_variants_ionxpress_001-5225	5	rs1042717 dbSNP Clinvar	148206646	1395.97	G	A	PASS	1/1	177	SYNONYMOUS_CODING	LOW	None	0.31470	0.31470	0.24174				None None	None None None None	ADRB2\|0.766324239\|6.71%
AFF4
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	tsvc_variants_ionxpress_001-5225	5	rs739863 dbSNP Clinvar	132232315	43.4711	G	A	PASS	0/1	27	SYNONYMOUS_CODING	LOW	None	0.00040	0.10520	0.11772				None None	None None None None	AFF4\|0.608388604\|11.5%
AGXT2
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	tsvc_variants_ionxpress_001-5225	5	rs180749 dbSNP Clinvar	35033605	553.014	G	A	PASS	1/1	63	NON_SYNONYMOUS_CODING	MODERATE	None	0.87500	0.87500	0.05790	0.23	0.00		None None	None None None None	AGXT2\|0.105323014\|50.19%
	View	tsvc_variants_ionxpress_001-5225	5	rs2279651 dbSNP Clinvar	35039437	881.861	A	G	PASS	1/1	98	SYNONYMOUS_CODING	LOW	None	0.39916	0.39920	0.46063				None None	None None None None	AGXT2\|0.105323014\|50.19%
	View	tsvc_variants_ionxpress_001-5225	5	rs37370 dbSNP Clinvar	35039486	831.701	C	T	PASS	1/1	89	NON_SYNONYMOUS_CODING	MODERATE	None	0.81050	0.81050	0.07220	0.36	0.00		None None	None None None None	AGXT2\|0.105323014\|50.19%
	View	tsvc_variants_ionxpress_001-5225	5	rs17245714 dbSNP Clinvar	34998894	382.744	G	C	PASS	1/1	44	NON_SYNONYMOUS_CODING	MODERATE	None	0.04673	0.04673	0.05290	0.13	0.01		None None	None None None None	AGXT2\|0.105323014\|50.19%
	View	tsvc_variants_ionxpress_001-5225	5	rs466067 dbSNP Clinvar	35010138	328.006	A	G	PASS	1/1	36	SYNONYMOUS_CODING	LOW	None	0.89457	0.89460	0.04198				None None	None None None None	AGXT2\|0.105323014\|50.19%
AMACR
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	tsvc_variants_ionxpress_001-5225	5	rs2278008 dbSNP Clinvar	33989518	129.97	C	T	PASS	0/1	63	NON_SYNONYMOUS_CODING	MODERATE	None	0.69609	0.69610	0.24089	0.95	0.00		None None	None None None None	AMACR\|0.038358163\|66.34%
ANKRD31
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	tsvc_variants_ionxpress_001-5225	5	rs6893216 dbSNP Clinvar	74442964	85.771	T	C	PASS	0/1	41	NON_SYNONYMOUS_CODING	MODERATE	None	0.16893	0.16890	0.15506	0.12	0.03		None None	None None None None	ANKRD31\|0.011398689\|79.69%
	View	tsvc_variants_ionxpress_001-5225	5	rs77974311 dbSNP Clinvar	74464864	215.423	A	G	PASS	0/1	115	SYNONYMOUS_CODING	LOW	None	0.04413	0.04413	0.04293				None None	None None None None	ANKRD31\|0.011398689\|79.69%
	View	tsvc_variants_ionxpress_001-5225	5	rs6888707 dbSNP Clinvar	74442920	43.3044	A	G	PASS	0/1	41	SYNONYMOUS_CODING	LOW	None	0.58526	0.58530	0.48774				None None	None None None None	ANKRD31\|0.011398689\|79.69%
	View	tsvc_variants_ionxpress_001-5225	5	rs1422699 dbSNP Clinvar	74442410	124.363	G	A	PASS	0/1	73	SYNONYMOUS_CODING	LOW	None	0.58506	0.58510					None None	None None None None	ANKRD31\|0.011398689\|79.69%
	View	tsvc_variants_ionxpress_001-5225	5	rs1422698 dbSNP Clinvar	74443132	49.5266	C	T	PASS	0/1	23	NON_SYNONYMOUS_CODING	MODERATE	None	0.58506	0.58510	0.48795	1.00	0.00		None None	None None None None	ANKRD31\|0.011398689\|79.69%
ANKRD33B
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	tsvc_variants_ionxpress_001-5225	5	rs814576 dbSNP Clinvar	10564846	733.503	C	T	PASS	1/1	79	SYNONYMOUS_CODING	LOW	None	0.96426	0.96430					None None	None None None None	ANKRD33B\|0.01613202\|76.38%
	View	tsvc_variants_ionxpress_001-5225	5	rs11745612 dbSNP Clinvar	10638180	294.039	T	C	PASS	1/1	29	SYNONYMOUS_CODING	LOW	None	0.37101	0.37100	0.43057				None None	None None None None	ANKRD33B\|0.01613202\|76.38%
	View	tsvc_variants_ionxpress_001-5225	5	rs56969869 dbSNP Clinvar	10650150	110.177	A	G	PASS	0/1	32	SYNONYMOUS_CODING	LOW	None	0.30771	0.30770	0.34428				None None	None None None None	ANKRD33B\|0.01613202\|76.38%
ANKRD34B
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	tsvc_variants_ionxpress_001-5225	5	rs32857 dbSNP Clinvar	79855372	307.581	A	G	PASS	1/1	33	NON_SYNONYMOUS_CODING	MODERATE	None	0.94249	0.94250	0.11141	1.00	0.00		None None	None None None None	ANKRD34B\|0.037975306\|66.46%
ANKRD55
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	tsvc_variants_ionxpress_001-5225	5	rs60779428 dbSNP Clinvar	55412471	107.124	C	T	PASS	0/1	74	SYNONYMOUS_CODING	LOW	None	0.08327	0.08327	0.10980				None None	None None None None	ANKRD55\|0.097647762\|51.59%
	View	tsvc_variants_ionxpress_001-5225	5	rs76363118 dbSNP Clinvar	55407523	44.6219	C	A	PASS	0/1	35	NON_SYNONYMOUS_CODING	MODERATE	None	0.00200	0.00320	0.00408	0.02	0.01		None None	None None None None	ANKRD55\|0.097647762\|51.59%
	View	tsvc_variants_ionxpress_001-5225	5	rs113351727 dbSNP Clinvar	55422877	199.077	T	C	PASS	0/1	104	NON_SYNONYMOUS_CODING	MODERATE	None	0.00399	0.00399	0.00454	0.00	0.76		None None	None None None None	ANKRD55\|0.097647762\|51.59%
ANXA2R
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	tsvc_variants_ionxpress_001-5225	5	rs1054428 dbSNP Clinvar	43039793	103.514	T	C	PASS	0/1	45	NON_SYNONYMOUS_CODING	MODERATE	None	0.18351	0.18350	0.26695	0.48	0.81		None None	None None None None	ANXA2R\|0.000047349\|100%
ANXA6
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	tsvc_variants_ionxpress_001-5225	5	rs1133202 dbSNP Clinvar	150489390	478.594	A	G	PASS	1/1	47	SYNONYMOUS_CODING	LOW	None	0.75819	0.75820	0.21680				None None	None None None None	ANXA6\|0.284174792\|28.78%
AP3B1
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	tsvc_variants_ionxpress_001-5225	5	rs6453373 dbSNP Clinvar	77425028	438.669	A	T	PASS	1/1	44	NON_SYNONYMOUS_CODING	MODERATE	None			0.06720	1.00	0.00		None None	None None None None	AP3B1\|0.638758531\|10.5%
APBB3
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	tsvc_variants_ionxpress_001-5225	5	rs250430 dbSNP Clinvar	139941228	421.377	A	G	PASS	1/1	52	NON_SYNONYMOUS_CODING	MODERATE	None	0.90575	0.90580	0.11018	1.00	0.00		None None	None None None None	APBB3\|0.268238369\|30.01%
	View	tsvc_variants_ionxpress_001-5225	5	rs250431 dbSNP Clinvar	139940233	1533.9	G	A	PASS	1/1	174	SYNONYMOUS_CODING	LOW	None	0.63139	0.63140	0.41227				None None	None None None None	APBB3\|0.268238369\|30.01%
APC
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	tsvc_variants_ionxpress_001-5225	5	rs41115 dbSNP Clinvar	112175770	541.676	G	A	PASS	1/1	65	PROTEIN_PROTEIN_INTERACTION_LOCUS	HIGH	None	0.66554	0.66550	0.41378				None None	None None None None	APC\|0.952088564\|2.19%
	View	tsvc_variants_ionxpress_001-5225	5	rs42427 dbSNP Clinvar	112176325	266.13	G	A	PASS	1/1	36	SYNONYMOUS_CODING	LOW	None	0.66673	0.66670	0.40987				None None	None None None None	APC\|0.952088564\|2.19%
	View	tsvc_variants_ionxpress_001-5225	5	rs2229992 dbSNP Clinvar	112162854	262.191	T	C	PASS	1/1	29	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.50998	0.51000	0.46217				None None	None None None None	APC\|0.952088564\|2.19%
	View	tsvc_variants_ionxpress_001-5225	5	rs1801155 dbSNP Clinvar	112175211	119.58	T	A	PASS	0/1	55	NON_SYNONYMOUS_CODING	MODERATE	None			0.00108	0.70	0.01		None None	None None None None	APC\|0.952088564\|2.19%
	View	tsvc_variants_ionxpress_001-5225	5	rs465899 dbSNP Clinvar	112177171	252.871	G	A	PASS	1/1	28	SYNONYMOUS_CODING	LOW	None	0.66653	0.66650	0.41309				None None	None None None None	APC\|0.952088564\|2.19%
	View	tsvc_variants_ionxpress_001-5225	5	rs866006 dbSNP Clinvar	112176559	609.161	T	G	PASS	1/1	68	SYNONYMOUS_CODING	LOW	None	0.66693	0.66690	0.41201				None None	None None None None	APC\|0.952088564\|2.19%
	View	tsvc_variants_ionxpress_001-5225	5	rs459552 dbSNP Clinvar	112176756	299.652	T	A	PASS	1/1	33	NON_SYNONYMOUS_CODING	MODERATE	None	0.86542	0.86540	0.17374	0.50	0.00		None None	None None None None	APC\|0.952088564\|2.19%
AQPEP
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	tsvc_variants_ionxpress_001-5225	5	rs10062297 dbSNP Clinvar	115298378	165.236	C	T	PASS	0/1	78	SYNONYMOUS_CODING	LOW	None	0.77496	0.77500	0.16337				None None	None None None None	None
	View	tsvc_variants_ionxpress_001-5225	5	rs7712021 dbSNP Clinvar	115336862	107.051	T	C	PASS	0/1	44	SYNONYMOUS_CODING	LOW	None	0.25479	0.25480	0.33690				None None	None None None None	None
	View	tsvc_variants_ionxpress_001-5225	5	rs10078748 dbSNP Clinvar	115341611	117.949	G	T	PASS	0/1	51	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.77676	0.77680	0.18315				None None	None None None None	None
	View	tsvc_variants_ionxpress_001-5225	5	rs10078759 dbSNP Clinvar	115341638	146.877	G	C	PASS	0/1	57	NON_SYNONYMOUS_CODING	MODERATE	None			0.18292	0.02	0.15		None None	None None None None	None
	View	tsvc_variants_ionxpress_001-5225	5	rs12522632 dbSNP Clinvar	115298518	270.112	A	G	PASS	0/1	209	SYNONYMOUS_CODING	LOW	None			0.17741				None None	None None None None	None
	View	tsvc_variants_ionxpress_001-5225	5	rs12520255 dbSNP Clinvar	115298475	140.963	T	C	PASS	0/1	70	NON_SYNONYMOUS_CODING	MODERATE	None	0.77396	0.77400	0.17663	0.86	0.00		None None	None None None None	None
ARHGAP26
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	tsvc_variants_ionxpress_001-5225	5	rs2270068 dbSNP Clinvar	142421415	773.82	T	G	PASS	1/1	74	SYNONYMOUS_CODING	LOW	None	0.88818	0.88820	0.00169				None None	None None None None	ARHGAP26\|0.689373516\|8.81%
	View	tsvc_variants_ionxpress_001-5225	5	rs258819 dbSNP Clinvar	142593652	430.555	C	T	PASS	1/1	46	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.99641	0.99640	0.00377				None None	None None None None	ARHGAP26\|0.689373516\|8.81%
ARHGEF28
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	tsvc_variants_ionxpress_001-5225	5	rs7716253 dbSNP Clinvar	73090261	311.327	T	C	PASS	1/1	34	SYNONYMOUS_CODING	LOW	None	0.61342	0.61340	0.39609				None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	tsvc_variants_ionxpress_001-5225	5	rs1478453 dbSNP Clinvar	73207372	606.291	T	A	PASS	1/1	67	NON_SYNONYMOUS_CODING	MODERATE	None	0.30232	0.30230	0.38488	0.30	0.00		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	tsvc_variants_ionxpress_001-5225	5	rs2973571 dbSNP Clinvar	73142296	655.385	C	T	PASS	1/1	70	NON_SYNONYMOUS_CODING	MODERATE	None	0.17213	0.17210	0.23821	0.36	0.00		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	tsvc_variants_ionxpress_001-5225	5	rs6453022 dbSNP Clinvar	73076511	141.378	C	A	PASS	0/1	42	NON_SYNONYMOUS_CODING	MODERATE	None	0.57788	0.57790	0.43045	0.67	0.00		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	tsvc_variants_ionxpress_001-5225	5	rs2973568 dbSNP Clinvar	73144845	295.565	A	G	PASS	1/1	32	SYNONYMOUS_CODING	LOW	None	0.67632	0.67630	0.32967				None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	tsvc_variants_ionxpress_001-5225	5	rs2973558 dbSNP Clinvar	73163965	591.675	C	A	PASS	1/1	67	NON_SYNONYMOUS_CODING	MODERATE	None	0.22264	0.22260	0.27568	0.40	0.00		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	tsvc_variants_ionxpress_001-5225	5	rs2973566 dbSNP Clinvar	73148481	483.164	G	A	PASS	1/1	47	NON_SYNONYMOUS_CODING	MODERATE	None	0.16394	0.16390	0.23058	0.01	0.74		None None	None None None None	ARHGEF28\|0.15892968\|41.74%
	View	tsvc_variants_ionxpress_001-5225	5	rs2931423 dbSNP Clinvar	73163831	359.981	C	T	PASS	1/1	40	SYNONYMOUS_CODING	LOW	None	0.22264	0.22260	0.27751				None None	None None None None	ARHGEF28\|0.15892968\|41.74%
ARHGEF37
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	tsvc_variants_ionxpress_001-5225	5	rs2400891 dbSNP Clinvar	148989122	215.128	C	T	PASS	0/1	86	SYNONYMOUS_CODING	LOW	None	0.37720	0.37720	0.46349				None None	None None None None	ARHGEF37\|0.046932636\|63.62%
	View	tsvc_variants_ionxpress_001-5225	5	rs3733662 dbSNP Clinvar	149008467	85.9132	C	A	PASS	0/1	58	NON_SYNONYMOUS_CODING	MODERATE	None	0.16034	0.16030	0.11649	0.58	0.01		None None	None None None None	ARHGEF37\|0.046932636\|63.62%
	View	tsvc_variants_ionxpress_001-5225	5	rs1135093 dbSNP Clinvar	149008521	89.2917	A	G	PASS	0/1	47	NON_SYNONYMOUS_CODING	MODERATE	None	0.69369	0.69370	0.28951	0.64	0.00		None None	None None None None	ARHGEF37\|0.046932636\|63.62%
	View	tsvc_variants_ionxpress_001-5225	5	rs4629585 dbSNP Clinvar	149001551	309.777	A	C	PASS	0/1	138	NON_SYNONYMOUS_CODING	MODERATE	None	0.43690	0.43690	0.36393	1.00	0.00		None None	None None None None	ARHGEF37\|0.046932636\|63.62%
	View	tsvc_variants_ionxpress_001-5225	5	rs1056993 dbSNP Clinvar	149008403	73.7876	A	G	PASS	0/1	47	SYNONYMOUS_CODING	LOW	None	0.67213	0.67210	0.31076				None None	None None None None	ARHGEF37\|0.046932636\|63.62%
ARL14EPL
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	tsvc_variants_ionxpress_001-5225	5	rs6880759 dbSNP Clinvar	115394626	405.584	G	A	PASS	1/1	43	SYNONYMOUS_CODING	LOW	None	0.07208	0.67630					None None	None None None None	ARL14EPL\|0.056195492\|60.86%
ARL15
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	tsvc_variants_ionxpress_001-5225	5	rs35941 dbSNP Clinvar	53606295	696.435	T	C	PASS	1/1	81	SYNONYMOUS_CODING	LOW	None	0.82648	0.82650	0.12791				None None	None None None None	ARL15\|0.803940544\|5.72%
ARSB
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	tsvc_variants_ionxpress_001-5225	5	rs1071598 dbSNP Clinvar	78181423	98.0071	C	T	PASS	0/1	44	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.10863	0.10860	0.13701	0.19	0.12		None None	None None None None	ARSB\|0.08485524\|54.24%
ATP10B
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	tsvc_variants_ionxpress_001-5225	5	rs4921302 dbSNP Clinvar	159992697	141.021	C	T	PASS	0/1	64	SYNONYMOUS_CODING	LOW	None	0.08107	0.08107	0.09355				None None	None None None None	ATP10B\|0.07854889\|55.53%
	View	tsvc_variants_ionxpress_001-5225	5	rs56340994 dbSNP Clinvar	160059137	101.489	A	G	PASS	0/1	49	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.00599	0.00599	0.00855	0.03	0.90		None None	None None None None	ATP10B\|0.07854889\|55.53%
	View	tsvc_variants_ionxpress_001-5225	5	rs958912 dbSNP Clinvar	160097496	295.539	A	G	PASS	1/1	32	NON_SYNONYMOUS_CODING	MODERATE	None	0.86162	0.86160	0.14734	0.39	0.00		None None	None None None None	ATP10B\|0.07854889\|55.53%
	View	tsvc_variants_ionxpress_001-5225	5	rs3812005 dbSNP Clinvar	159992655	161.971	T	C	PASS	0/1	94	SYNONYMOUS_CODING	LOW	None	0.35683	0.35680	0.36195				None None	None None None None	ATP10B\|0.07854889\|55.53%
	View	tsvc_variants_ionxpress_001-5225	5	rs958911 dbSNP Clinvar	160097632	757.115	G	A	PASS	1/1	92	SYNONYMOUS_CODING	LOW	None	0.87760	0.87760	0.11247				None None	None None None None	ATP10B\|0.07854889\|55.53%
	View	tsvc_variants_ionxpress_001-5225	5	rs4921150 dbSNP Clinvar	159992751	145.462	A	G	PASS	0/1	75	SYNONYMOUS_CODING	LOW	None	0.14357	0.14360	0.15773				None None	None None None None	ATP10B\|0.07854889\|55.53%
	View	tsvc_variants_ionxpress_001-5225	5	rs3812006 dbSNP Clinvar	159992754	121.744	T	G	PASS	0/1	77	SYNONYMOUS_CODING	LOW	None	0.39477	0.39480	0.39612				None None	None None None None	ATP10B\|0.07854889\|55.53%
B4GALT7
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	tsvc_variants_ionxpress_001-5225	5	rs11537644 dbSNP Clinvar	177031348	127.115	T	C	PASS	0/1	127	SYNONYMOUS_CODING	LOW	None	0.66134	0.66130	0.36735				None None	None None None None	B4GALT7\|0.160454345\|41.46%
	View	tsvc_variants_ionxpress_001-5225	5	rs729459 dbSNP Clinvar	177035964	117.639	T	C	PASS	0/1	58	SYNONYMOUS_CODING	LOW	None	0.60503	0.60500	0.42519				None None	None None None None	B4GALT7\|0.160454345\|41.46%
BDP1
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	tsvc_variants_ionxpress_001-5225	5	rs182190 dbSNP Clinvar	70840233	70.3726	C	T	PASS	0/1	45	SYNONYMOUS_CODING	LOW	None	0.39896	0.39900	0.42819				None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs469039 dbSNP Clinvar	70849021	122.805	G	T	PASS	0/1	41	SYNONYMOUS_CODING	LOW	None	0.43271	0.43270	0.44997				None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs6453014 dbSNP Clinvar	70837295	157.064	A	C	PASS	1/1	20	NON_SYNONYMOUS_CODING	MODERATE	None	0.82268	0.82270	0.19623	1.00	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs1698063 dbSNP Clinvar	70809169	126.23	A	G	PASS	0/1	44	NON_SYNONYMOUS_CODING	MODERATE	None	0.39956	0.39960	0.42969	0.15	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs6886336 dbSNP Clinvar	70806958	551.463	G	A	PASS	1/1	59	NON_SYNONYMOUS_CODING	MODERATE	None	0.82109	0.82110	0.19709	0.46	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs715747 dbSNP Clinvar	70806711	190.925	C	G	PASS	1/1	20	NON_SYNONYMOUS_CODING	MODERATE	None	0.79074	0.79070	0.22814	0.15	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs1961760 dbSNP Clinvar	70806649	166.472	T	A	PASS	0/1	73	NON_SYNONYMOUS_CODING	MODERATE	None	0.43990	0.43990	0.45353	1.00	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs715748 dbSNP Clinvar	70806457	136.687	G	A	PASS	0/1	55	NON_SYNONYMOUS_CODING	MODERATE	None	0.43970	0.43970	0.45004	0.25	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs3761967 dbSNP Clinvar	70800538	79.3666	G	A	PASS	0/1	48	NON_SYNONYMOUS_CODING	MODERATE	None	0.43271	0.43270	0.44776	0.13	0.14		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs277941 dbSNP Clinvar	70858194	115.104	C	T	PASS	0/1	84	SYNONYMOUS_CODING	LOW	None	0.32368	0.32370	0.28482				None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs3748043 dbSNP Clinvar	70751818	1215.65	T	G	PASS	1/1	129	NON_SYNONYMOUS_CODING	MODERATE	None	0.77816	0.77820	0.23286	1.00	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
	View	tsvc_variants_ionxpress_001-5225	5	rs115185087 dbSNP Clinvar	70858342	98.4573	A	G	PASS	0/1	43	NON_SYNONYMOUS_CODING	MODERATE	None	0.03674	0.03674	0.03825	0.68	0.00		None None	None None None None	BDP1\|0.020559057\|73.91%
BHMT2
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	tsvc_variants_ionxpress_001-5225	5	rs682985 dbSNP Clinvar	78373431	346.581	C	T	PASS	1/1	38	SYNONYMOUS_CODING	LOW	None	0.48822	0.48820	0.49939				None None	None None None None	DMGDH\|0.169846291\|40.33%,BHMT2\|0.048729707\|63.04%
BRD8
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	tsvc_variants_ionxpress_001-5225	5	rs412051 dbSNP Clinvar	137476416	515.977	T	C	PASS	1/1	56	NON_SYNONYMOUS_CODING	MODERATE	None	0.97724	0.97720	0.01991	1.00	0.00		None None	None None None None	BRD8\|0.564301197\|13.19%
BTF3
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	tsvc_variants_ionxpress_001-5225	5	rs14010 dbSNP Clinvar	72798845	86.9146	A	G	PASS	0/1	37	SYNONYMOUS_CODING	LOW	None	0.37840	0.37840	0.27172				None None	None None None None	BTF3\|0.517722757\|15.07%