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+ Genes 404

Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABHD11, ADAP1, AEBP1, AGBL3, AGR2, AHCYL2, AHR, AIMP2, AKAP9, AKR1B10, AKR1B15, ANKIB1, ANKMY2, ANKRD61, ANLN, AOAH, AOC1, ARHGEF35, ARMC10, ASB15, ASIC3, ASNS, ATP6V0A4, AVL9, AZGP1, BAIAP2L1, BAZ1B, BLVRA, BMPER, C1GALT1, C7orf25, C7orf26, C7orf31, C7orf57, C7orf63, C7orf65, C7orf69, C7orf72, CADPS2, CALCR, CALD1, CALU, CAMK2B, CARD11, CASD1, CCDC129, CCDC132, CCDC136, CCDC146, CCT6A, CCZ1, CDCA7L, CDHR3, CDK13, CFTR, CHPF2, CLCN1, CLDN15, CLIP2, CNOT4, CNTNAP2, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA2, CPA4, CPA5, CPED1, CPVL, CREB3L2, CRYGN, CTAGE15, CTAGE8, CTTNBP2, CUX1, CYP3A7, CYP51A1, CYTH3, DAGLB, DDC, DDX56, DENND2A, DLX5, DLX6, DMTF1, DNAH11, DNAJC30, DTX2, DYNC1I1, EEPD1, EGFR, EIF2AK1, EIF3B, ELFN1, EN2, EPDR1, EPHA1, EPHB4, ERV3-1, ESYT2, ETV1, EXOC4, FAM115C, FAM185A, FAM188B, FAM20C, FBXL13, FBXL18, FERD3L, FKBP9, FLNC, FOXK1, FSCN1, GALNTL5, GARS, GATS, GCC1, GET4, GIGYF1, GIMAP2, GIMAP4, GIMAP5, GIMAP7, GIMAP8, GLCCI1, GLI3, GNA12, GPER1, GPNMB, GPR141, GPR146, GPR37, GPR85, GRB10, GRID2IP, GSAP, GTF2I, GTF2IRD2, GTF2IRD2B, GTPBP10, HDAC9, HEATR2, HECW1, HOXA1, HOXA11, HOXA13, HOXA4, HOXA7, HTR5A, HYAL4, IGFBP3, IKZF1, IL6, IMPDH1, INMT, INTS1, IQCE, IRF5, ITGB8, KBTBD2, KCNH2, KDELR2, KDM7A, KIAA0895, KIAA1549, KLF14, KLHL7, KMT2C, KMT2E, KPNA7, KRIT1, LAMB1, LANCL2, LFNG, LMTK2, LRCH4, LRGUK, LRRC17, LRRC61, LRRD1, LRWD1, LSM5, MACC1, MAD1L1, MAGI2, MDFIC, METTL2B, MGAM, MICALL2, MIOS, MLXIPL, MMD2, MNX1, MPP6, MRPL32, MTPN, MUC12, MUC17, MYO1G, NACAD, NAPEPLD, NCF1, NME8, NOM1, NOS3, NPSR1, NPVF, NPY, NRCAM, NT5C3A, NUB1, NUP205, OGDH, OPN1SW, OR2A1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A5, OR2F1, OR2F2, PARP12, PAX4, PAXIP1, PCLO, PDE1C, PDGFA, PDK4, PEX1, PHF14, PHTF2, PIK3CG, PILRA, PKD1L1, PLOD3, PLXNA4, PMS2, PODXL, POM121, POM121C, POM121L12, POMZP3, PON1, PON2, PON3, POR, POT1, PPP1R3A, PPP1R9A, PRKAR1B, PRKAR2B, PRPS1L1, PRR15, PRRT4, PRSS1, PRSS58, PSMC2, PTPN12, PTPRN2, PTPRZ1, PURB, PVRIG, RAB19, RADIL, RARRES2, RASA4, RASA4B, RBAK, RBAK-RBAKDN, RBM33, RELN, REPIN1, RHBDD2, RNF216, RNF32, RP9, RSBN1L, RSPH10B, RSPH10B2, SAMD9, SAMD9L, SBDS, SDK1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SFRP4, SGCE, SLC12A9, SLC13A1, SLC13A4, SLC25A13, SLC26A3, SLC29A4, SLC37A3, SLC4A2, SMO, SND1, SNX13, SNX8, SP8, SPDYE1, SRCRB4D, SRRT, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STRA8, STX1A, STYXL1, SUGCT, SUMF2, SUN1, SUN3, SVOPL, TAS2R16, TAS2R38, TAS2R41, TAS2R60, TAX1BP1, TBRG4, TBX20, TBXAS1, TECPR1, TFPI2, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM139, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM213, TMEM60, TNPO3, TNRC18, TNS3, TRIM24, TRIM50, TRIM56, TRIP6, TSPAN12, TSPAN13, TYW1B, UBE3C, UFSP1, UPK3B, URGCP, USP42, VIPR2, VPS41, VWDE, WBSCR17, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WEE2, WIPI2, YWHAG, ZC3HAV1, ZC3HC1, ZDHHC4, ZFAND2A, ZKSCAN1, ZMIZ2, ZNF107, ZNF117, ZNF138, ZNF273, ZNF282, ZNF398, ZNF425, ZNF467, ZNF479, ZNF679, ZNF680, ZNF713, ZNF727, ZNF775, ZNF777, ZNF786, ZNF804B, ZNF853, ZNF862, ZP3,

+ Genes associated with diseases 94

Genes at Omim

ABCB1, ABCB4, AEBP1, AHR, AIMP2, AKAP9, ANLN, ASNS, ATP6V0A4, BLVRA, BMPER, CALCR, CAMK2B, CARD11, CDK13, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CUX1, DDC, DLX5, DNAH11, EGFR, EPHB4, FAM20C, FLNC, GARS, GLCCI1, GLI3, GPNMB, HOXA1, HOXA11, HOXA13, IKZF1, IL6, IMPDH1, IQCE, IRF5, KCNH2, KLHL7, KMT2C, LAMB1, LFNG, MAD1L1, MAGI2, MMD2, MNX1, NCF1, NME8, NOS3, NPSR1, NT5C3A, NUP205, OGDH, OPN1SW, PAX4, PCLO, PDE1C, PEX1, PKD1L1, PLOD3, PMS2, PON1, PON2, POR, POT1, PPP1R3A, PRSS1, PTPN12, RELN, RNF216, RP9, SAMD9, SAMD9L, SBDS, SEMA3A, SEMA3E, SFRP4, SGCE, SLC25A13, SLC26A3, TAS2R16, TAS2R38, TBX20, TBXAS1, TMEM106B, TNPO3, TSPAN12, WDR60, WEE2, YWHAG, ZP3,
ABCB1 {Inflammatory bowel disease 13}, 612244 (3)
{Colchicine resistance}, 120080 (3)
ABCB4 Gallbladder disease 1, 600803 (3)
Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
Cholestasis, progressive familial intrahepatic 3, 602347 (3)
AEBP1 Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)
AHR ?Retinitis pigmentosa 85, 618345 (3)
AIMP2 Leukodystrophy, hypomyelinating, 17, 618006 (3)
AKAP9 ?Long QT syndrome-11, 611820 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
ASNS Asparagine synthetase deficiency, 615574 (3)
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
BLVRA Hyperbiliverdinemia, 614156 (3)
BMPER Diaphanospondylodysostosis, 608022 (3)
CALCR {Osteoporosis, postmenopausal, susceptibility}, 166710 (3)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CARD11 B-cell expansion with NFKB and T-cell anergy, 616452 (3)
Immunodeficiency 11A, 615206 (3)
Immunodeficiency 11B with atopic dermatitis, 617638 (3)
CDK13 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3)
CFTR {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)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CLCN1 Myotonia congenita, dominant, 160800 (3)
Myotonia congenita, recessive, 255700 (3)
Myotonia levior, recessive (3)
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Pitt-Hopkins like syndrome 1, 610042 (3)
{Autism susceptibility 15}, 612100 (3)
COG5 Congenital disorder of glycosylation, type IIi, 613612 (3)
COL1A2 {Osteoporosis, postmenopausal}, 166710 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3)
Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
CUX1 Global developmental delay with or without impaired intellectual development, 618330 (3)
DDC Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
DLX5 ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EPHB4 Capillary malformation-arteriovenous malformation 2, 618196 (3)
Lymphatic malformation 7, 617300 (3)
FAM20C Raine syndrome, 259775 (3)
FLNC Cardiomyopathy, familial hypertrophic, 26 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Myopathy, distal, 4, 614065 (3)
Myopathy, myofibrillar, 5, 609524 (3)
GARS Charcot-Marie-Tooth disease, type 2D, 601472 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
GLCCI1 {Glucocorticoid therapy, response to}, 614400 (3)
GLI3 {Hypothalamic hamartomas, somatic}, 241800 (3)
Greig cephalopolysyndactyly syndrome, 175700 (3)
Pallister-Hall syndrome, 146510 (3)
Polydactyly, postaxial, types A1 and B, 174200 (3)
Polydactyly, preaxial, type IV, 174700 (3)
GPNMB Amyloidosis, primary localized cutaneous, 3, 617920 (3)
HOXA1 Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Bosley-Salih-Alorainy syndrome, 601536 (3)
HOXA11 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3)
HOXA13 Guttmacher syndrome, 176305 (3)
Hand-foot-uterus syndrome, 140000 (3)
IKZF1 Immunodeficiency, common variable, 13, 616873 (3)
IL6 {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3)
{Kaposi sarcoma, susceptibility to}, 148000 (3)
{Rheumatoid arthritis, systemic juvenile}, 604302 (3)
{Crohn disease-associated growth failure}, 266600 (3)
{Diabetes, susceptibility to}, 222100, 125853 (3)
IMPDH1 Leber congenital amaurosis 11, 613837 (3)
Retinitis pigmentosa 10, 180105 (3)
IQCE ?Polydactyly, postaxial, type A7, 617642 (3)
IRF5 {Inflammatory bowel disease 14}, 612245 (3)
{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
KCNH2 {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3)
Long QT syndrome 2, 613688 (3)
Short QT syndrome 1, 609620 (3)
KLHL7 Cold-induced sweating syndrome 3, 617055 (3)
Retinitis pigmentosa 42, 612943 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
LAMB1 Lissencephaly 5, 615191 (3)
LFNG Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)
MAD1L1 Lymphoma, somatic (3)
Prostate cancer, somatic, 176807 (3)
MAGI2 Nephrotic syndrome, type 15, 617609 (3)
MMD2 Miyoshi muscular dystrophy 2 (2)
MNX1 Currarino syndrome, 176450 (3)
NCF1 Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (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)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)
NT5C3A Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
NUP205 ?Nephrotic syndrome, type 13, 616893 (3)
OGDH Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
OPN1SW Colorblindness, tritan, 190900 (3)
PAX4 Diabetes mellitus, type 2, 125853 (3)
Maturity-onset diabetes of the young, type IX, 612225 (3)
{Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE1C ?Deafness, autosomal dominant 74, 618140 (3)
PEX1 Heimler syndrome 1, 234580 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PLOD3 Lysyl hydroxylase 3 deficiency, 612394 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PON1 {Microvascular complications of diabetes 5}, 612633 (3)
{Organophosphate poisoning, sensitivity to} (3)
{Coronary artery disease, susceptibility to} (3)
{Coronary artery spasm 2, susceptibility to (3)
PON2 {Coronary artery disease, susceptibility to} (3)
POR Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
POT1 {Glioma susceptibility 9}, 616568 (3)
{Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3)
PPP1R3A Insulin resistance, severe, digenic, 125853 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PTPN12 Colon cancer, somatic, 114500 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3)
RP9 ?Retinitis pigmentosa 9, 180104 (3)
SAMD9 MIRAGE syndrome, 617053 (3)
Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
SAMD9L Ataxia-pancytopenia syndrome, 159550 (3)
SBDS Shwachman-Diamond syndrome, 260400 (3)
{Aplastic anemia, susceptibility to}, 609135 (3)
SEMA3A {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
SEMA3E ?CHARGE syndrome, 214800 (3)
SFRP4 Pyle disease, 265900 (3)
SGCE Dystonia-11, myoclonic, 159900 (3)
SLC25A13 Citrullinemia, adult-onset type II, 603471 (3)
Citrullinemia, type II, neonatal-onset, 605814 (3)
SLC26A3 Diarrhea 1, secretory chloride, congenital, 214700 (3)
TAS2R16 [Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3)
TAS2R38 [Phenylthiocarbamide tasting], 171200 (3)
TBX20 Atrial septal defect 4, 611363 (3)
TBXAS1 Ghosal hematodiaphyseal syndrome, 231095 (3)
?Thromboxane synthase deficiency, 614158 (1)
TMEM106B Leukodystrophy, hypomyelinating, 16, 617964 (3)
TNPO3 Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3)
TSPAN12 Exudative vitreoretinopathy 5, 613310 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WEE2 Oocyte maturation defect 5, 617996 (3)
YWHAG Epileptic encephalopathy, early infantile, 56, 617665 (3)
ZP3 Oocyte maturation defect 3, 617712 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, AKAP9, ANLN, ASNS, ATP6V0A4, BLVRA, BMPER, CARD11, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, DDC, DLX5, DNAH11, EGFR, FAM20C, FLNC, GARS, GLI3, HOXA1, HOXA11, HOXA13, IKZF1, IMPDH1, KCNH2, KLHL7, KRIT1, LAMB1, LFNG, MNX1, NCF1, NME8, NT5C3A, NUP205, OPN1SW, PAX4, PEX1, PLOD3, PMS2, PON1, POR, POT1, PPP1R3A, PRSS1, RELN, RNF216, RP9, SAMD9, SBDS, SEMA3A, SEMA3E, SGCE, SLC25A13, SLC26A3, SUGCT, TAS2R38, TBX20, TBXAS1, TNPO3, TSPAN12, WDR60,
ABCB1 Colchicine metabolism, association with
ABCB4 Cholestasis, progressive familial intrahepatic 3
Low phospholipid-associated cholelithiasis 1
Cholestasis, oral contraceptives induced
Cholestasis, familial intrahepatic, of pregnancy
Gallbladder disease 1
AKAP9 Long QT syndrome 11
ANLN Focal segmental glomerulosclerosis 8
ASNS Asparagine synthetase deficiency
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive
BLVRA Hyperbiliverdinemia
BMPER Diaphanospondylodysostosis
CARD11 B-cell expansion with NFKB and T-cell anergy
Immunodeficiency 11
CFTR Cystic fibrosis
CLCN1 Myotonia congenita, autosomal dominant
Myotonia congenita, autosomal recessive, Myotonia levior
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome
Pitt-Hopkins like syndrome 1
COG5 Congenital disorder of glycosylation, type IIi
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form
DDC Aromatic l-amino acid decarboxylase deficiency
DLX5 Split-hand/foot malformation 1 with sensorineural hearing loss
DNAH11 Ciliary dyskinesia, primary, 7
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FLNC Myopathy, distal, 4
Myopathy, myofibrillar, 5
GARS Charcot-Marie-Tooth disease, type 2D
Neuropathy, distal hereditary motor, type V
GLI3 Acrocallosal syndrome
Pallister-Hall syndrome
Grieg cephalopolysndactyly syndrome
Postaxial polydactyly type A1
Polydactyly, preaxial, type IV
Polydactyly, postaxial, types A1 and B
HOXA1 Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
HOXA11 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
HOXA13 Hand-foot-genital syndrome
Guttmacher syndrome
Hand-foot-uterus syndrome
IKZF1 Immunodeficiency, common variable, 13
IMPDH1 Retinitis pigmentosa 10
Leber congenital amaurosis 11
KCNH2 Long QT syndrome 2
Short QT syndrome 1
KLHL7 Retinitis pigmentosa 42
KRIT1 Cerebral cavernous malformations 1
LAMB1 Lissencephaly 5
LFNG Spondylocostal dysostosis, autosomal recessive 3
MNX1 Currarino syndrome
NCF1 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I
NME8 Ciliary dyskinesia, primary, 6
NT5C3A Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NUP205 Nephrotic syndrome, type 13
OPN1SW Tritanopia
PAX4 Diabetes mellitus
PEX1 Heimler syndrome 1
PLOD3 Bone fragility with contractures, arterial rupture, and deafness
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
PON1 Clopidogrel treatment, sensitivity to
POR Antley-Bixler syndrome
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
POT1 Glioma susceptibility 9
Melanoma, cutaneous malignant, susceptibility to 10
PPP1R3A Insulin resistance, severe, digenic
PRSS1 Pancreatitis, hereditary
RELN Epilepsy, familial temporal lobe, 7
Lissencephaly 2
RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon Holmes syndrome)
RP9 Retinitis pigmentosa 9
SAMD9 Tumoral calcinosis, normophosphatemic
SBDS Shwachman-Diamond syndrome
Aplastic anemia
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SEMA3E CHARGE syndrome
SGCE Dystonia 11, myoclonic
SLC25A13 Citrin deficiency
SLC26A3 Diarrhea 1, secretory chloride, congenital
SUGCT Glutaric aciduria III
TAS2R38 Thiourea tasting
Phenylthiocarbamide tasting
TBX20 Atrial septal defect 4
TBXAS1 Ghosal hematodiaphyseal syndrome
TNPO3 Muscular dystrophy, limb-girdle, type 1F
TSPAN12 Exudative vitreoretinopathy 5
Retinal dysplasia and severe familial exudative vitreoretinopathy
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 2056
Number of Genes: 404

Export to: CSV

ABCA13
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 gordonsepilepsy filtered 2484 7 rs6583546
dbSNP Clinvar 		48336844 5838.5 C T PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.76897 0.76900 0.35105 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs1880736
dbSNP Clinvar 		48315796 1625.5 C A PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.81290 0.81290 0.30295 0.00 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs6583448
dbSNP Clinvar 		48545976 15595.7 A G PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs2222648
dbSNP Clinvar 		48318811 3280.5 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.85224 0.85220 0.22580 0.00 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs4917153
dbSNP Clinvar 		48506642 1315.17 A G PASS 0/1 58 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.23063 0.23060 0.17498 0.00 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs4917152
dbSNP Clinvar 		48506566 1000.17 A G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.23083 0.23080 0.17826 0.00 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs1880738
dbSNP Clinvar 		48285485 1762.92 C T PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.40655 0.40650 0.35164 0.00 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs1358066
dbSNP Clinvar 		48312674 2068.92 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.57528 0.57530 0.49452 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs17547830
dbSNP Clinvar 		48313510 6890.5 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.18730 0.18730 0.30130 0.01 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs13233225
dbSNP Clinvar 		48314798 9894.5 G T PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.21645 0.21650 0.33389 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs17548783
dbSNP Clinvar 		48450157 27379.7 T C PASS 1/1 245 SYNONYMOUS_CODING LOW None 0.46266 0.46270 0.46629 None None None None None None ABCA13|0.04721773|63.52%
View gordonsepilepsy filtered 2484 7 rs3931814
dbSNP Clinvar 		48349647 4137.5 C T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.10963 0.10960 0.11313 0.00 None None None None None None ABCA13|0.04721773|63.52%

ABCB1
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 gordonsepilepsy filtered 2484 7 rs2032582
dbSNP Clinvar 		87160618 6708.92 A C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.04872 0.61700 0.32193 1.00 0.00 None None None None None None ABCB1|0.831468236|5.08%
View gordonsepilepsy filtered 2484 7 rs1128503
dbSNP Clinvar 		87179601 5313.92 A G PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.58387 0.58390 0.35760 None None None None None None ABCB1|0.831468236|5.08%
View gordonsepilepsy filtered 2484 7 rs1045642
dbSNP Clinvar 		87138645 7794.17 A G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.60483 0.60480 0.42334 None None None None None None ABCB1|0.831468236|5.08%

ABCB4
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 gordonsepilepsy filtered 2484 7 rs1202283
dbSNP Clinvar 		87082292 5197.92 G A PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.34784 0.34780 0.40412 None None None None None None ABCB4|0.238504845|32.55%

ABCB5
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 gordonsepilepsy filtered 2484 7 rs62453384
dbSNP Clinvar 		20762646 4843.17 G T PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.23223 0.23220 0.29909 0.00 0.88 None None None None None None ABCB5|0.12579132|46.5%
View gordonsepilepsy filtered 2484 7 rs6461515
dbSNP Clinvar 		20778646 7141.69 G A PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.75679 0.75680 0.22620 0.13 0.34 None None None None None None ABCB5|0.12579132|46.5%
View gordonsepilepsy filtered 2484 7 rs7349983
dbSNP Clinvar 		20683204 3579.92 G T PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.04493 0.04493 0.10155 None None None None None None ABCB5|0.12579132|46.5%
View gordonsepilepsy filtered 2484 7 rs2893006
dbSNP Clinvar 		20687181 1626.92 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.21945 0.21940 0.25908 None None None None None None ABCB5|0.12579132|46.5%
View gordonsepilepsy filtered 2484 7 rs61732039
dbSNP Clinvar 		20687604 1752.92 A G PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.04513 0.04513 0.10210 0.01 0.21 None None None None None None ABCB5|0.12579132|46.5%
View gordonsepilepsy filtered 2484 7 rs34603556
dbSNP Clinvar 		20691047 7498.92 T C PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.10164 0.10160 0.15485 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%
View gordonsepilepsy filtered 2484 7 rs61227829
dbSNP Clinvar 		20691219 3128.92 G A PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.05072 0.05072 0.10211 None None None None None None ABCB5|0.12579132|46.5%
View gordonsepilepsy filtered 2484 7 rs2301641
dbSNP Clinvar 		20698270 6607.5 A G PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.36382 0.36380 0.39997 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%

ABCB8
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 gordonsepilepsy filtered 2484 7 rs2303926
dbSNP Clinvar 		150733025 7830.18 T A PASS 0/1 254 SYNONYMOUS_CODING LOW None 0.30052 0.30050 0.31816 None None None None None None ABCB8|0.062047001|59.3%

ABCF2
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 gordonsepilepsy filtered 2484 7 rs6949587
dbSNP Clinvar 		150916228 7440.17 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.41933 0.41930 0.34822 None None None None None None ABCF2|0.445512851|18.39%
View gordonsepilepsy filtered 2484 7 rs12538823
dbSNP Clinvar 		150912750 2512.17 G T PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.04992 0.04992 0.07504 None None None None None None ABCF2|0.445512851|18.39%
View gordonsepilepsy filtered 2484 7 rs7786151
dbSNP Clinvar 		150912786 3638.17 T C PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.08706 0.08706 0.11341 None None None None None None ABCF2|0.445512851|18.39%
View gordonsepilepsy filtered 2484 7 rs6464133
dbSNP Clinvar 		150921950 14584.7 A G PASS 1/1 105 SYNONYMOUS_CODING LOW None 0.73902 0.73900 0.28925 None None None None None None ABCF2|0.445512851|18.39%

ABHD11
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 gordonsepilepsy filtered 2484 7 rs6460052
dbSNP Clinvar 		73151644 10310.2 A G PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.60463 0.60460 0.41458 None None None None None None ABHD11|0.015871051|76.55%

ADAP1
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 gordonsepilepsy filtered 2484 7 rs61730955
dbSNP Clinvar 		943868 2323.92 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.04213 0.04213 0.05447 None None None None None None ADAP1|0.029140217|69.81%,COX19|0.030938283|68.99%
View gordonsepilepsy filtered 2484 7 rs10256887
dbSNP Clinvar 		940181 4314.74 C T PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.86701 0.86700 0.12406 1.00 0.00 None None None None None None ADAP1|0.029140217|69.81%,COX19|0.030938283|68.99%

AEBP1
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 gordonsepilepsy filtered 2484 7 rs2537188
dbSNP Clinvar 		44147485 3202.97 C A PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.35743 0.35740 0.36568 0.35 0.01 None None None None None None AEBP1|0.046717327|63.68%
View gordonsepilepsy filtered 2484 7 rs2595701
dbSNP Clinvar 		44148553 15715.7 A G PASS 1/1 111 SYNONYMOUS_CODING LOW None 0.78874 0.78870 0.25836 None None None None None None AEBP1|0.046717327|63.68%
View gordonsepilepsy filtered 2484 7 rs13928
dbSNP Clinvar 		44153780 4521.92 A G PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.36861 0.36860 0.45610 1.00 0.00 None None None None None None AEBP1|0.046717327|63.68%

AGBL3
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 gordonsepilepsy filtered 2484 7 rs4236655
dbSNP Clinvar 		134701856 27993.7 G C PASS 1/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.91054 0.91050 0.06833 0.13 0.98 None None None None None None AGBL3|0.045265094|64.12%
View gordonsepilepsy filtered 2484 7 rs9656447
dbSNP Clinvar 		134719551 16481.7 C G PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.90974 0.90970 0.06855 None None None None None None AGBL3|0.045265094|64.12%

AGR2
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 gordonsepilepsy filtered 2484 7 rs4719480
dbSNP Clinvar 		16834551 10939.9 C A PASS 0/1 172 None None None 0.91633 0.91630 0.13063 0.00 0.00 None None None None None None AGR2|0.129707594|45.92%
View gordonsepilepsy filtered 2484 7 rs6842
dbSNP Clinvar 		16834597 10773.5 A G PASS 0/1 185 SYNONYMOUS_CODING LOW None 0.33546 0.33550 0.38490 None None None None None None AGR2|0.129707594|45.92%

AHCYL2
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 gordonsepilepsy filtered 2484 7 rs4731565
dbSNP Clinvar 		128865130 3469.87 C T PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.29952 0.29950 None None None None None None AHCYL2|0.59007871|12.12%

AHR
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 gordonsepilepsy filtered 2484 7 rs2066853
dbSNP Clinvar 		17379110 7029.92 G A PASS 0/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.27077 0.27080 0.21736 1.00 0.00 None None None None None None AHR|0.22557491|33.82%

AIMP2
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 gordonsepilepsy filtered 2484 7 rs4560
dbSNP Clinvar 		6063283 3464.72 C T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.32788 0.32790 0.34930 None None None None None None AIMP2|0.162483135|41.23%,EIF2AK1|0.036895941|66.83%

AKAP9
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 gordonsepilepsy filtered 2484 7 rs10236397
dbSNP Clinvar 		91691601 2501.92 C T PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.35982 0.35980 0.42773 None None None None None None AKAP9|0.267262044|30.07%
View gordonsepilepsy filtered 2484 7 rs6964587
dbSNP Clinvar 		91630620 8759.92 G T PASS 0/1 252 NON_SYNONYMOUS_CODING MODERATE None 0.37220 0.37220 0.44047 0.00 None None None None None None AKAP9|0.267262044|30.07%
View gordonsepilepsy filtered 2484 7 rs10228334
dbSNP Clinvar 		91713972 1727.92 C T PASS 0/1 35 None None None 0.37380 0.37380 0.44096 None None None None None None AKAP9|0.267262044|30.07%
View gordonsepilepsy filtered 2484 7 rs1989779
dbSNP Clinvar 		91632306 8167.17 C T PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.09365 None None None None None None AKAP9|0.267262044|30.07%
View gordonsepilepsy filtered 2484 7 rs13245393
dbSNP Clinvar 		91641928 2159.92 A G PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.37380 0.37380 0.44180 None None None None None None AKAP9|0.267262044|30.07%
View gordonsepilepsy filtered 2484 7 rs1063242
dbSNP Clinvar 		91714911 8574.68 C T PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.99880 0.99880 0.00261 0.00 None None None None None None AKAP9|0.267262044|30.07%
View gordonsepilepsy filtered 2484 7 rs56295910
dbSNP Clinvar 		91718874 1549.92 A G PASS 0/1 39 None None None 0.01258 0.01258 0.01522 0.00 0.00 None None None None None None AKAP9|0.267262044|30.07%
View gordonsepilepsy filtered 2484 7 rs10644111,rs397825978
dbSNP Clinvar 		91652178 3497.92 A AAAC PASS 0/1 45 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.42472 0.42470 0.47907 None None None None None None AKAP9|0.267262044|30.07%
View gordonsepilepsy filtered 2484 7 rs1063243
dbSNP Clinvar 		91726927 1987.92 A C PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.44626 None None None None None None AKAP9|0.267262044|30.07%
View gordonsepilepsy filtered 2484 7 rs6960867
dbSNP Clinvar 		91712698 7187.92 A G PASS 0/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.29593 0.29590 0.35607 0.00 None None None None None None AKAP9|0.267262044|30.07%
View gordonsepilepsy filtered 2484 7 rs28927678
dbSNP Clinvar 		91715662 4385.92 C T PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.29573 0.29570 0.35568 None None None None None None AKAP9|0.267262044|30.07%

AKR1B10
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 gordonsepilepsy filtered 2484 7 rs1722883
dbSNP Clinvar 		134215403 10960.9 T C PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.53315 0.53310 0.44526 None None None None None None AKR1B10|0.014962544|77.15%
View gordonsepilepsy filtered 2484 7 rs4728329
dbSNP Clinvar 		134225827 7407.68 A G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.96945 0.96940 0.06343 0.20 0.00 None None None None None None AKR1B10|0.014962544|77.15%
View gordonsepilepsy filtered 2484 7 rs28545160
dbSNP Clinvar 		134221826 2524.92 A G PASS 0/1 68 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None -1.27 0.00 0.05289 T None None None None AKR1B10|0.014962544|77.15%

AKR1B15
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 gordonsepilepsy filtered 2484 7 rs6467538
dbSNP Clinvar 		134264286 3063.92 C T PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.33566 0.33570 0.39942 None None None None None None AKR1B15|0.005314714|85.4%

ANKIB1
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 gordonsepilepsy filtered 2484 7 rs1861635
dbSNP Clinvar 		92027537 1378.17 C G PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.15475 0.15480 0.08448 None None None None None None ANKIB1|0.445469557|18.4%

ANKMY2
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 gordonsepilepsy filtered 2484 7 rs11540037
dbSNP Clinvar 		16655387 4682.92 C T PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.17632 0.17630 0.17031 None None None None None None ANKMY2|0.129496668|45.94%

ANKRD61
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 gordonsepilepsy filtered 2484 7 rs2302334
dbSNP Clinvar 		6075823 6834.72 A T PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.33387 0.33390 0.79 0.00 None None None None None None EIF2AK1|0.036895941|66.83%,ANKRD61|0.004895373|85.92%
View gordonsepilepsy filtered 2484 7 rs4724769
dbSNP Clinvar 		6071060 7447.72 G A PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.33766 0.33770 None None None None None None EIF2AK1|0.036895941|66.83%,ANKRD61|0.004895373|85.92%

ANLN
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 gordonsepilepsy filtered 2484 7 rs61737563
dbSNP Clinvar 		36445855 2812.17 A C PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.04752 0.04752 None None None None None None ANLN|0.180116375|39.04%
View gordonsepilepsy filtered 2484 7 rs197367
dbSNP Clinvar 		36445856 9667.7 G A PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.62061 0.62060 0.46094 1.00 0.00 None None None None None None ANLN|0.180116375|39.04%
View gordonsepilepsy filtered 2484 7 rs61549495
dbSNP Clinvar 		36447349 7415.7 A ACTT PASS 1/1 74 CODON_INSERTION MODERATE None 0.44948 0.44950 0.38393 None None None None None None ANLN|0.180116375|39.04%

AOAH
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 gordonsepilepsy filtered 2484 7 rs2228411
dbSNP Clinvar 		36763688 8000.48 C T PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.37820 0.37820 0.41143 None None None None None None AOAH|0.05743156|60.58%

AOC1
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 gordonsepilepsy filtered 2484 7 rs10893
dbSNP Clinvar 		150555915 2467.92 A G PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.45907 0.45910 0.35710 None None None None None None AOC1|0.017990966|75.29%
View gordonsepilepsy filtered 2484 7 rs1049793
dbSNP Clinvar 		150557665 2978.92 C G PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.45328 0.45330 0.35484 1.00 0.00 None None None None None None AOC1|0.017990966|75.29%
View gordonsepilepsy filtered 2484 7 rs79934982
dbSNP Clinvar 		150553851 4302.92 G A PASS 0/1 234 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00243 0.08 0.19 None None None None None None AOC1|0.017990966|75.29%
View gordonsepilepsy filtered 2484 7 rs12179
dbSNP Clinvar 		150557622 2372.92 G A PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.45328 0.45330 0.35954 None None None None None None AOC1|0.017990966|75.29%
View gordonsepilepsy filtered 2484 7 rs6943420
dbSNP Clinvar 		150556056 17469.7 G C PASS 1/1 103 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AOC1|0.017990966|75.29%
View gordonsepilepsy filtered 2484 7 rs6943147
dbSNP Clinvar 		150556055 17469.7 C G PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.08 0.02 None None None None None None AOC1|0.017990966|75.29%

ARHGEF35
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 gordonsepilepsy filtered 2484 7 rs4726676
dbSNP Clinvar 		143884103 1785.17 G A PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.13099 0.13100 0.07784 None None None None None None ARHGEF35|0.000692626|97.3%

ARMC10
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 gordonsepilepsy filtered 2484 7 rs14029
dbSNP Clinvar 		102738862 1099.17 T C PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.07627 None None None None None None ARMC10|0.030367771|69.22%

ASB15
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 gordonsepilepsy filtered 2484 7 rs6962756
dbSNP Clinvar 		123256427 8787.92 C T PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.77935 0.77940 0.21463 0.71 0.00 None None None None None None ASB15|0.249466416|31.55%

ASIC3
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 gordonsepilepsy filtered 2484 7 rs11977275
dbSNP Clinvar 		150747937 4097.18 C A PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.14357 0.14360 0.19425 None None None None None None ASIC3|0.064485136|58.73%

ASNS
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 gordonsepilepsy filtered 2484 7 rs1049674
dbSNP Clinvar 		97488569 5226.48 A T PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.87600 0.87600 0.19922 1.00 0.00 None None None None None None ASNS|0.144831856|43.74%

ATP6V0A4
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 gordonsepilepsy filtered 2484 7 rs1026435
dbSNP Clinvar 		138418910 20624.5 G A PASS 0/1 266 SYNONYMOUS_CODING LOW None 0.71665 0.71670 0.31678 None None None None None None ATP6V0A4|0.084008171|54.41%
View gordonsepilepsy filtered 2484 7 rs3807154
dbSNP Clinvar 		138417718 12049.5 A G PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.67752 0.67750 0.36691 None None None None None None ATP6V0A4|0.084008171|54.41%
View gordonsepilepsy filtered 2484 7 rs10258719
dbSNP Clinvar 		138455988 15619.2 A G PASS 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.67951 0.67950 0.26780 0.19 0.00 None None None None None None ATP6V0A4|0.084008171|54.41%

AVL9
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 gordonsepilepsy filtered 2484 7 rs1993050
dbSNP Clinvar 		32613020 6701.17 A G PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.56869 0.56870 0.41635 None None None None None None AVL9|0.207787031|35.83%

AZGP1
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 gordonsepilepsy filtered 2484 7 rs4215
dbSNP Clinvar 		99569394 7826.17 G A PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.37440 0.37440 0.30471 None None None None None None AZGP1|0.002916954|88.79%

BAIAP2L1
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 gordonsepilepsy filtered 2484 7 rs12728
dbSNP Clinvar 		97922851 2374.7 C T PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.26617 0.26620 0.40128 None None None None None None BRI3|0.027011351|70.88%,BAIAP2L1|0.061821177|59.37%
View gordonsepilepsy filtered 2484 7 rs13008
dbSNP Clinvar 		97922875 1937.7 G A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.14756 0.14760 0.34284 None None None None None None BRI3|0.027011351|70.88%,BAIAP2L1|0.061821177|59.37%

BAZ1B
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 gordonsepilepsy filtered 2484 7 rs2074754
dbSNP Clinvar 		72891754 16938.9 C T PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.34764 0.34760 0.35192 None None None None None None BAZ1B|0.356018071|23.74%

BLVRA
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 gordonsepilepsy filtered 2484 7 rs1131372
dbSNP Clinvar 		43843423 5977.5 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.08986 0.08986 0.09150 None None None None None None BLVRA|0.055967808|60.91%
View gordonsepilepsy filtered 2484 7 rs699512
dbSNP Clinvar 		43810764 13233.7 G A PASS 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.82109 0.82110 0.17999 0.52 0.00 None None None None None None BLVRA|0.055967808|60.91%
View gordonsepilepsy filtered 2484 7 rs1802846
dbSNP Clinvar 		43830888 4558.5 T C PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.10583 0.10580 0.10872 None None None None None None BLVRA|0.055967808|60.91%

BMPER
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 gordonsepilepsy filtered 2484 7 rs77064045
dbSNP Clinvar 		34125420 6751.72 G T PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.18930 0.18930 0.24727 None None None None None None BMPER|0.520309229|15%
View gordonsepilepsy filtered 2484 7 rs10265207
dbSNP Clinvar 		34009946 2651.7 C T PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.42812 0.42810 0.43864 None None None None None None BMPER|0.520309229|15%
View gordonsepilepsy filtered 2484 7 rs6968741
dbSNP Clinvar 		34192762 18172.7 G C PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.91014 0.91010 0.09696 None None None None None None BMPER|0.520309229|15%

C1GALT1
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 gordonsepilepsy filtered 2484 7 . 7273951 2512.92 A G PASS 0/1 40 START_LOST HIGH None 0.03 0.08 None None None None None None C1GALT1|0.167160818|40.64%

C7orf25
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 gordonsepilepsy filtered 2484 7 rs647117
dbSNP Clinvar 		42951515 1254.38 G A PASS 0/1 22 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63039 0.63040 0.07 0.00 None None None None None None C7orf25|0.170413051|40.26%
View gordonsepilepsy filtered 2484 7 rs28372722
dbSNP Clinvar 		42951646 1801.99 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.06050 0.06050 0.01929 None None None None None None C7orf25|0.170413051|40.26%

C7orf26
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 gordonsepilepsy filtered 2484 7 rs4416743
dbSNP Clinvar 		6647738 1202.96 T C PASS 1/1 7 SYNONYMOUS_CODING LOW None 0.75419 0.75420 0.09702 None None None None None None C7orf26|0.073894896|56.53%
View gordonsepilepsy filtered 2484 7 rs34300529
dbSNP Clinvar 		6639953 1294.17 G A PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.07588 0.07588 0.12909 None None None None None None C7orf26|0.073894896|56.53%

C7orf31
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 gordonsepilepsy filtered 2484 7 rs2285738
dbSNP Clinvar 		25181912 8970.92 T C PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.54593 0.54590 0.40458 0.04 0.03 None None None None None None C7orf31|0.027705707|70.55%
View gordonsepilepsy filtered 2484 7 rs2523072
dbSNP Clinvar 		25194665 4812.7 G C PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.53834 0.53830 0.39828 0.19 0.65 None None None None None None C7orf31|0.027705707|70.55%
View gordonsepilepsy filtered 2484 7 rs2717858
dbSNP Clinvar 		25207974 4814.92 T C PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.30312 0.30310 0.27257 0.25 0.00 None None None None None None C7orf31|0.027705707|70.55%
View gordonsepilepsy filtered 2484 7 rs2717857
dbSNP Clinvar 		25207994 4242.92 G A PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.19768 0.19770 0.16861 None None None None None None C7orf31|0.027705707|70.55%

C7orf57
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 gordonsepilepsy filtered 2484 7 rs2686791
dbSNP Clinvar 		48092486 10096.7 T C PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.82548 0.82550 0.11737 None None None None None None C7orf57|0.005729391|84.94%