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Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABHD11, AC021218.2, ACTR3C, ADAM22, ADAP1, ADCY1, AEBP1, AGAP3, AGBL3, AGR2, AHCYL2, AHR, AKAP9, AKR1B10, AMPH, AMZ1, ANKIB1, ANKRD61, ANKRD7, ANLN, AOAH, AOC1, ARHGEF5, ARMC10, ARPC1B, ASB10, ASB15, ASNS, ASZ1, ATG9B, ATP6V0A4, ATP6V1F, AUTS2, AVL9, AZGP1, BAZ1B, BBS9, BLACE, BLVRA, BMPER, BRAF, BRAT1, C7orf25, C7orf31, C7orf57, C7orf63, C7orf72, CACNA2D1, CADPS2, CALCR, CALD1, CAMK2B, CAPZA2, CARD11, CASP2, CAV1, CCDC129, CCDC132, CCDC136, CCDC146, CCL24, CCM2, CCT6A, CCZ1, CDCA7L, CDHR3, CDK13, CFTR, CHN2, CHPF2, CHST12, CLCN1, CLIP2, CNOT4, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA2, CPA4, CPA5, CPED1, CPVL, CRCP, CREB3L2, CROT, CRYGN, CTAGE4, CTAGE6, CTAGE8, CUX1, CYP2W1, CYP3A7, CYTH3, DAGLB, DDC, DDX56, DENND2A, DFNA5, DGKB, DGKI, DMTF1, DNAH11, DNAJB6, DNAJB9, DNAJC30, DPP6, DTX2, EEPD1, EGFR, EIF2AK1, EIF3B, EN2, EPDR1, EPHA1, EPHB4, ERV3-1, ERVW-1, ESYT2, ETV1, EXOC4, FAM115C, FAM126A, FAM185A, FAM220A, FAM221A, FAM71F1, FBXL13, FBXL18, FERD3L, FKBP9, FLNC, FOXK1, FZD1, GAL3ST4, GALNTL5, GCC1, GET4, GIGYF1, GIMAP2, GIMAP6, GIMAP7, GIMAP8, GLCCI1, GLI3, GNAT3, GPC2, GPNMB, GPR141, GPR37, GPR85, GRB10, GRID2IP, GSAP, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, HDAC9, HEATR2, HECW1, HEPACAM2, HERPUD2, HIP1, HOXA1, HOXA4, HOXA7, HUS1, ICA1, IGFBP1, IGFBP3, IKZF1, IL6, ING3, INMT, INTS1, IQCE, IRF5, ISPD, ITGB8, KCNH2, KDELR2, KDM7A, KIAA0895, KIAA1147, KIAA1549, KLF14, KLHL7, KLRG2, KMT2C, KMT2E, KPNA7, KRBA1, KRIT1, LAMB1, LAMTOR4, LANCL2, LFNG, LIMK1, LMBR1, LMOD2, LMTK2, LRGUK, LRRC17, LRRC4, LRRC61, LRRC72, LRRD1, LRWD1, LSM5, LUC7L2, MACC1, MAD1L1, MAGI2, MCM7, MDFIC, MDH2, MEOX2, MET, METTL2B, MGAM, MICALL2, MIOS, MLXIPL, MPP6, MRPL32, MTURN, MUC12, MUC17, MUC3A, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NCAPG2, NCF1, NFE2L3, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPVF, NPY, NRCAM, NT5C3A, NUB1, NUP205, OGDH, OR10AC1P, OR2A1, OR2A14, OR2A2, OR2A25, OR2A5, OR2A7, OR2AE1, OR6B1, OSBPL3, PAPOLB, PARP12, PAX4, PAXIP1, PCLO, PDE1C, PDK4, PEX1, PHTF2, PIK3CG, PKD1L1, PLXNA4, PMPCB, PMS2, PODXL, POLR2J3, POM121, POM121C, POM121L12, POMZP3, PON2, PON3, POR, POT1, POU6F2, PPP1R3A, PPP1R9A, PRKAR1B, PRKRIP1, PRR15, PRRT4, PRSS1, PRSS37, PSMC2, PSMG3, PSPH, PTPN12, PTPRN2, PTPRZ1, RADIL, RAPGEF5, RARRES2, RASA4, RASA4B, RBAK, RBAK-RBAKDN, RBM33, RELN, REPIN1, RHBDD2, RNF216, RNF32, RP11-1220K2.2, RP11-514P8.7, RP9, RSBN1L, RSPH10B, RSPH10B2, SAMD9, SAMD9L, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SFRP4, SGCE, SLC12A9, SLC13A4, SLC25A13, SLC26A3, SLC35B4, SLC37A3, SLC4A2, SMO, SMURF1, SND1, SNX13, SNX8, SP8, SPAM1, SPDYE1, SRCRB4D, SRRM3, SRRT, STAG3, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STX1A, STYXL1, SUGCT, SUMF2, SUN1, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R4, TAS2R41, TAS2R5, TAS2R60, TBRG4, TBXAS1, TECPR1, TES, TFPI2, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM209, TMEM213, TMEM229A, TMEM60, TNPO3, TNRC18, TNS3, TRBC2, TRBV19, TRBV2, TRBV20-1, TRBV4-1, TRBV4-2, TRBV5-4, TRBV5-5, TRBV5-6, TRBV6-5, TRBV6-7, TRBV6-8, TRBV7-4, TRBV7-6, TRGC1, TRGC2, TRGV3, TRGV4, TRGV5, TRGV9, TRIM4, TRIM50, TRIM74, TRIP6, TRRAP, TSGA13, TSPAN12, TSPAN13, TYW1, TYW1B, UBE3C, UFSP1, UPK3B, URGCP, USP42, VIPR2, VKORC1L1, VOPP1, VWC2, VWDE, WASL, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WEE2, WIPF3, WIPI2, ZAN, ZBED6CL, ZC3HAV1, ZC3HC1, ZNF107, ZNF117, ZNF138, ZNF212, ZNF273, ZNF282, ZNF3, ZNF398, ZNF425, ZNF479, ZNF680, ZNF713, ZNF736, ZNF746, ZNF775, ZNF777, ZNF853, ZNF862, ZP3,

+ Genes associated with diseases 99

Genes at Omim

ABCB1, ABCB4, ADAM22, ADCY1, AEBP1, AHR, AKAP9, ANLN, ARPC1B, ASB10, ASNS, ATP6V0A4, BLVRA, BMPER, BRAF, BRAT1, CALCR, CAMK2B, CARD11, CAV1, CDK13, CFTR, CLCN1, COG5, COL1A2, CUX1, DDC, DNAH11, DNAJB6, DPP6, EGFR, EPHB4, FAM126A, FLNC, GLCCI1, GLI3, GPNMB, GUSB, HOXA1, IKZF1, IL6, IQCE, IRF5, ISPD, KCNH2, KLHL7, KMT2C, LAMB1, LFNG, LMBR1, MAD1L1, MAGI2, MDH2, MET, NCF1, NME8, NOBOX, NOS3, NPC1L1, NPSR1, NT5C3A, NUP205, OGDH, PAX4, PCLO, PDE1C, PEX1, PKD1L1, PMPCB, PMS2, PON2, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, PTPN12, RELN, RNF216, RP9, SAMD9, SAMD9L, SEMA3A, SEMA3E, SFRP4, SGCE, SLC25A13, SLC26A3, STAG3, TAS2R16, TAS2R38, TBXAS1, TMEM106B, TNPO3, TSPAN12, WDR60, WEE2, 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)
ADAM22	?Epileptic encephalopathy, early infantile, 61, 617933 (3)
ADCY1	?Deafness, autosomal recessive 44, 610154 (3)
AEBP1	Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)
AHR	?Retinitis pigmentosa 85, 618345 (3)
AKAP9	?Long QT syndrome-11, 611820 (3)
ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
ARPC1B	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3)
ASB10	Glaucoma 1, open angle, F, 603383 (3)
ASNS	Asparagine synthetase deficiency, 615574 (3)
ATP6V0A4	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
BLVRA	Hyperbiliverdinemia, 614156 (3)
BMPER	Diaphanospondylodysostosis, 608022 (3)
BRAF	Adenocarcinoma of lung, somatic, 211980 (3) Cardiofaciocutaneous syndrome, 115150 (3) Colorectal cancer, somatic (3) LEOPARD syndrome 3, 613707 (3) Melanoma, malignant, somatic (3) Nonsmall cell lung cancer, somatic (3) Noonan syndrome 7, 613706 (3)
BRAT1	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3) Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (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)
CAV1	Lipodystrophy, familial partial, type 7, 606721 (3) ?Lipodystrophy, congenital generalized, type 3, 612526 (3) Pulmonary hypertension, primary, 3, 615343 (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)
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)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAJB6	Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3)
DPP6	{Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3) Mental retardation, autosomal dominant 33, 616311 (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)
FAM126A	Leukodystrophy, hypomyelinating, 5, 610532 (3)
FLNC	Cardiomyopathy, familial hypertrophic, 26 (3) Cardiomyopathy, familial restrictive 5, 617047 (3) Myopathy, distal, 4, 614065 (3) Myopathy, myofibrillar, 5, 609524 (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)
GUSB	Mucopolysaccharidosis VII, 253220 (3)
HOXA1	Athabaskan brainstem dysgenesis syndrome, 601536 (3) Bosley-Salih-Alorainy syndrome, 601536 (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)
IQCE	?Polydactyly, postaxial, type A7, 617642 (3)
IRF5	{Inflammatory bowel disease 14}, 612245 (3) {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
ISPD	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (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)
LMBR1	Acheiropody, 200500 (3) Hypoplastic or aplastic tibia with polydactyly, 188740 (3) Laurin-Sandrow syndrome, 135750 (3) Polydactyly, preaxial type II, 174500 (3) Syndactyly, type IV, 186200 (3) Triphalangeal thumb, type I, 174500 (3) Triphalangeal thumb-polysyndactyly syndrome, 174500 (3)
MAD1L1	Lymphoma, somatic (3) Prostate cancer, somatic, 176807 (3)
MAGI2	Nephrotic syndrome, type 15, 617609 (3)
MDH2	Epileptic encephalopathy, early infantile, 51, 617339 (3)
MET	Hepatocellular carcinoma, childhood type, somatic, 114550 (3) {Osteofibrous dysplasia, susceptibility to}, 607278 (3) ?Deafness, autosomal recessive 97, 616705 (3) Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
NCF1	Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NME8	Ciliary dyskinesia, primary, 6, 610852 (3)
NOBOX	Premature ovarian failure 5, 611548 (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)
NPC1L1	[Ezetimibe, nonresponse to], 617966 (3) [Low density lipoprotein cholesterol level QTL 7], 617966 (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)
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)
PMPCB	Multiple mitochondrial dysfunctions syndrome 6, 617954 (3)
PMS2	Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) Mismatch repair cancer syndrome, 276300 (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)
POU6F2	{Wilms tumor susceptibility-5}, 601583 (3)
PPP1R3A	Insulin resistance, severe, digenic, 125853 (3)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)
PSPH	Phosphoserine phosphatase deficiency, 614023 (3)
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)
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)
STAG3	Premature ovarian failure 8, 615723 (3)
TAS2R16	[Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3)
TAS2R38	[Phenylthiocarbamide tasting], 171200 (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)
ZP3	Oocyte maturation defect 3, 617712 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ADCY1, AKAP9, ANLN, ASNS, ATP6V0A4, AUTS2, BBS9, BLVRA, BMPER, BRAF, BRAT1, CARD11, CAV1, CCM2, CFTR, CLCN1, COG5, COL1A2, DDC, DFNA5, DNAH11, DNAJB6, DPP6, EGFR, FAM126A, FLNC, GLI3, GUSB, HOXA1, IKZF1, ISPD, KCNH2, KLHL7, KRIT1, LAMB1, LFNG, LMBR1, MET, NCF1, NME8, NOBOX, NPC1L1, NT5C3A, NUP205, PAX4, PEX1, PMS2, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, RELN, RNF216, RP9, SAMD9, SEMA3A, SEMA3E, SGCE, SLC25A13, SLC26A3, STAG3, SUGCT, TAS2R38, TBXAS1, TNPO3, TRRAP, 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
ADCY1	Deafness, autosomal dominant 44
AKAP9	Long QT syndrome 11
ANLN	Focal segmental glomerulosclerosis 8
ASNS	Asparagine synthetase deficiency
ATP6V0A4	Renal tubular acidosis, distal, autosomal recessive
AUTS2	Mental retardation, autosomal dominant 26
BBS9	Bardet-Biedl syndrome 9
BLVRA	Hyperbiliverdinemia
BMPER	Diaphanospondylodysostosis
BRAF	Noonan syndrome Cardiofaciocutaneous syndrome LEOPARD syndrome 3
BRAT1	Rigidity and multifocal seizure syndrome, lethal neonatal
CARD11	B-cell expansion with NFKB and T-cell anergy Immunodeficiency 11
CAV1	Lipodystrophy, congenital generalized, type 3 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CCM2	Cerebral cavernous malformations 2
CFTR	Cystic fibrosis
CLCN1	Myotonia congenita, autosomal dominant Myotonia congenita, autosomal recessive, Myotonia levior
COG5	Congenital disorder of glycosylation, type IIi
COL1A2	Ehlers-Danlos syndrome, cardiac valvular form
DDC	Aromatic l-amino acid decarboxylase deficiency
DFNA5	Deafness, autosomal dominant 5
DNAH11	Ciliary dyskinesia, primary, 7
DNAJB6	Muscular dystrophy, limb-girdle, type 1E
DPP6	Ventricular fibrillation, paroxysmal familial, 2
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
FAM126A	Leukodystrophy, hypomyelinating, 5
FLNC	Myopathy, distal, 4 Myopathy, myofibrillar, 5
GLI3	Acrocallosal syndrome Pallister-Hall syndrome Grieg cephalopolysndactyly syndrome Postaxial polydactyly type A1 Polydactyly, preaxial, type IV Polydactyly, postaxial, types A1 and B
GUSB	Mucopolysaccharidosis type VII
HOXA1	Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome
IKZF1	Immunodeficiency, common variable, 13
ISPD	Muscular dystrophy-dystroglycanopathy (congenital, with brain and eye anomalies), type A, 7 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
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
LMBR1	Acheiropody Syndactyly, type IV Laurin-Sandrow syndrome Triphalangeal thumb, type I Polydactyly, preaxial type II Triphalangeal thumb-polysyndactyly syndrome Tibial aplasia/hypoplasia Hypoplastic or aplastic tibia with polydactyly
MET	Renal cell carcinoma, papillary Deafness, autosomal recessive 97
NCF1	Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I
NME8	Ciliary dyskinesia, primary, 6
NOBOX	Premature ovarian failure 5
NPC1L1	Ezetimibe, nonresponse to
NT5C3A	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NUP205	Nephrotic syndrome, type 13
PAX4	Diabetes mellitus
PEX1	Heimler syndrome 1
PMS2	Colorectal cancer, hereditary nonpolyposis type 4 Mismatch repair cancer syndrome
POR	Antley-Bixler syndrome Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
POT1	Glioma susceptibility 9 Melanoma, cutaneous malignant, susceptibility to 10
POU6F2	Wilms tumor 5
PPP1R3A	Insulin resistance, severe, digenic
PRSS1	Pancreatitis, hereditary
PSPH	Phosphoserine phosphatase deficiency
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
SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia
SEMA3E	CHARGE syndrome
SGCE	Dystonia 11, myoclonic
SLC25A13	Citrin deficiency
SLC26A3	Diarrhea 1, secretory chloride, congenital
STAG3	Premature ovarian failure 8
SUGCT	Glutaric aciduria III
TAS2R38	Thiourea tasting Phenylthiocarbamide tasting
TBXAS1	Ghosal hematodiaphyseal syndrome
TNPO3	Muscular dystrophy, limb-girdle, type 1F
TRRAP	Schizophrenia
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: 4762
Number of Genes: 470

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Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	4k20002_01 gatk	7	rs112450927 dbSNP Clinvar	50444181	10.17	G	GT	.	0/1	59	None	None	None							None None	None None None None	IKZF1\|0.37781877\|22.21%
	View	4k20002_01 gatk	7	.	62708719	10.2	A	G	.	0/1	17	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs532451537,rs56817783 dbSNP Clinvar	16901523	11.08	TA	T	.	0/1	7	None	None	None	0.42053	0.42050					None None	None None None None	AGR3\|0.049823243\|62.72%
	View	4k20002_01 gatk	7	.	49951542	11.08	CAT	C	.	0/1	9	None	None	None							None None	None None None None	VWC2\|0.129528634\|45.93%,ZPBP\|0.046697117\|63.69%
	View	4k20002_01 gatk	7	rs782462756 dbSNP Clinvar	142498702	11.12	C	T	.	0/1	2	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	.	142457286	11.12	T	G	.	0/1	46	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	.	76684704	11.12	G	A	.	0/1	2	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs1799887 dbSNP Clinvar	142498687	11.12	T	C	.	0/1	2	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs782096363 dbSNP Clinvar	142498699	11.12	A	G	.	0/1	2	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs139017404 dbSNP Clinvar	21813275	11.15	A	AT	.	0/1	3	None	None	None	0.07608	0.07608					None None	None None None None	DNAH11\|0.38215847\|21.9%
VWDE
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	4k20002_01 gatk	7	rs6945167 dbSNP Clinvar	12394053	12.05	G	T	.	0/1	3	None	None	None	0.89297	0.89300		1.00	0.00		None None	None None None None	VWDE\|0.014104761\|77.81%
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	4k20002_01 gatk	7	.	142139816	12.05	G	A	.	0/1	3	None	None	None							None None	None None None None	None
ZNF736
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	4k20002_01 gatk	7	.	63796642	12.05	G	T	.	0/1	3	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ZNF736\|0.001873755\|91.32%
MUC17
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	4k20002_01 gatk	7	rs142558659 dbSNP Clinvar	100678029	12.05	G	C	.	0/1	601	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.00		None None	None None None None	MUC17\|0.000618625\|97.79%
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	4k20002_01 gatk	7	rs552976972 dbSNP Clinvar	128851174	12.05	T	A	.	0/1	3	None	None	None	0.00020	0.00020					None None	None None None None	SMO\|0.952917172\|2.16%
	View	4k20002_01 gatk	7	rs700308 dbSNP Clinvar	147092615	12.99	C	T	.	0/1	11	None	None	None	0.17432	0.17430					None None	None None None None	CNTNAP2\|0.836009361\|4.94%
	View	4k20002_01 gatk	7	.	32444865	14.85	CT	C	.	1/1	2	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	.	6031804	14.87	G	GT	.	0/1	11	None	None	None							None None	None None None None	PMS2\|0.061509857\|59.43%
	View	4k20002_01 gatk	7	rs879119497 dbSNP Clinvar	35923396	14.87	AT	A	.	0/1	8	None	None	None							None None	None None None None	SEPT7\|0.564093934\|13.19%
	View	4k20002_01 gatk	7	.	44841084	14.91	T	C	.	0/1	16	None	None	None							None None	None None None None	PPIA\|0.950645121\|2.23%
	View	4k20002_01 gatk	7	rs760531164 dbSNP Clinvar	100550827	14.91	T	C	.	0/1	101	None	None	None							None None	None None None None	MUC3A\|0.001683398\|91.94%
	View	4k20002_01 gatk	7	rs705380 dbSNP Clinvar	94953913	14.91	G	C	.	0/1	8	None	None	None	0.94169	0.94170					None None	None None None None	PON1\|0.345425216\|24.46%
	View	4k20002_01 gatk	7	rs62432897 dbSNP Clinvar	825429	15.65	A	G	.	1/1	1	None	None	None	0.82728	0.82730					None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs11284325 dbSNP Clinvar	16572376	15.82	TA	T	.	1/1	2	None	None	None	0.85623	0.85620					None None	None None None None	LRRC72\|0.02017431\|74.09%
MUC3A
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	4k20002_01 gatk	7	.	100550242	15.85	ACCG	A	.	0/1	123	CODON_DELETION	MODERATE								None None	None None None None	MUC3A\|0.001683398\|91.94%
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	4k20002_01 gatk	7	rs148621002 dbSNP Clinvar	143507895	15.88	G	A	.	0/1	5	None	None	None							None None	None None None None	None
ERVW-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	4k20002_01 gatk	7	rs779021269 dbSNP Clinvar	92098721	15.88	T	G	.	0/1	55	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ERVW-1\|0.015639065\|76.69%
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	4k20002_01 gatk	7	rs377760158 dbSNP Clinvar	138950972	16.82	CA	C	.	0/1	15	None	None	None							None None	None None None None	UBN2\|0.352838195\|23.88%
	View	4k20002_01 gatk	7	rs879215460 dbSNP Clinvar	142460495	16.86	A	C	.	0/1	28	None	None	None							None None	None None None None	PRSS1\|0.013065246\|78.46%
	View	4k20002_01 gatk	7	rs768198740 dbSNP Clinvar	138189192	17.8	CT	C	.	0/1	12	None	None	None							None None	None None None None	TRIM24\|0.529254322\|14.62%
	View	4k20002_01 gatk	7	rs1467279 dbSNP Clinvar	57069669	17.84	T	C	.	0/1	23	None	None	None	0.79313	0.79310					None None	None None None None	None
	View	4k20002_01 gatk	7	rs79291713 dbSNP Clinvar	56891090	18.59	G	A	.	1/1	1	None	None	None	0.15336	0.15340					None None	None None None None	None
	View	4k20002_01 gatk	7	rs73168341 dbSNP Clinvar	100615359	18.59	A	G	.	1/1	1	None	None	None							None None	None None None None	MUC12\|0.000890812\|96.07%
	View	4k20002_01 gatk	7	rs73168339 dbSNP Clinvar	100615353	18.59	C	T	.	1/1	1	None	None	None							None None	None None None None	MUC12\|0.000890812\|96.07%
	View	4k20002_01 gatk	7	rs836480 dbSNP Clinvar	6431404	18.82	G	T	.	0/1	12	None	None	None	0.69229	0.69230					None None	None None None None	RAC1\|0.996219736\|0.73%
	View	4k20002_01 gatk	7	rs118145346 dbSNP Clinvar	76024484	18.82	G	C	.	0/1	13	None	None	None	0.03415	0.03415					None None	None None None None	SSC4D\|0.068094998\|57.9%
	View	4k20002_01 gatk	7	rs771368396 dbSNP Clinvar	47859241	19.78	G	GA	.	0/1	56	None	None	None							None None	None None None None	HUS1\|0.052679196\|61.85%,PKD1L1\|0.001445956\|93.06%,C7orf69\|0.000418768\|98.85%
	View	4k20002_01 gatk	7	rs564920652 dbSNP Clinvar	142460494	19.81	A	C	.	0/1	28	None	None	None	0.00020	0.00020					None None	None None None None	PRSS1\|0.013065246\|78.46%
CTAGE8
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	4k20002_01 gatk	7	rs1635873 dbSNP Clinvar	143964267	19.81	A	G	.	0/1	77	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.03	0.73		None None	None None None None	ARHGEF35\|0.000692626\|97.3%,CTAGE8\|0.001436056\|93.13%
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	4k20002_01 gatk	7	rs541315781 dbSNP Clinvar	76071396	19.83	G	A	.	0/1	3	None	None	None	0.02037	0.02037					None None	None None None None	None
	View	4k20002_01 gatk	7	rs78149794 dbSNP Clinvar	100616408	20.78	G	A	.	1/1	2	None	None	None	0.07428	0.07428					None None	None None None None	MUC12\|0.000890812\|96.07%
GTF2IRD2B
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	4k20002_01 gatk	7	.	74558414	20.8	A	G	.	0/1	4	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.08	0.04		None None	None None None None	GTF2IRD2B\|0.005780461\|84.85%
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	4k20002_01 gatk	7	rs725415 dbSNP Clinvar	63232511	21.77	G	A	.	1/1	2	None	None	None	0.24321	0.24320					None None	None None None None	None
TRBV5-5
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	4k20002_01 gatk	7	rs140504979 dbSNP Clinvar	142149349	21.77	A	C	.	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.98922	0.98920	0.00734	1.00	0.00		None None	None None None None	None
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	4k20002_01 gatk	7	.	142353987	21.77	C	A	.	1/1	2	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs72504867 dbSNP Clinvar	64601548	21.77	G	C	.	1/1	2	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs10954724 dbSNP Clinvar	75597545	21.77	C	T	.	1/1	2	None	None	None	0.51018	0.51020					None None	None None None None	POR\|0.031075792\|68.94%
	View	4k20002_01 gatk	7	rs39286 dbSNP Clinvar	89792250	21.77	A	C	.	1/1	2	None	None	None	0.98143	0.98140					None None	None None None None	STEAP1\|0.093383695\|52.51%
TRGV9
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	4k20002_01 gatk	7	rs56794613 dbSNP Clinvar	38356849	21.77	C	T	.	1/1	2	SYNONYMOUS_CODING	LOW	SILENT	0.18630	0.18630	0.14451				None None	None None None None	None
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	4k20002_01 gatk	7	rs615300 dbSNP Clinvar	47596775	21.77	C	T	.	1/1	2	None	None	None	0.38419	0.38420					None None	None None None None	TNS3\|0.04703279\|63.56%
	View	4k20002_01 gatk	7	.	150065986	21.77	G	A	.	1/1	2	None	None	None							None None	None None None None	REPIN1\|0.049134688\|62.92%,ZNF775\|0.01761964\|75.53%
	View	4k20002_01 gatk	7	rs947742531 dbSNP Clinvar	99274299	21.77	G	A	.	1/1	2	None	None	None							None None	None None None None	CYP3A5\|0.279100957\|29.19%
TRBV4-1
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	4k20002_01 gatk	7	rs361401 dbSNP Clinvar	142013384	21.77	G	C	.	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.97863	0.97860	0.02163	1.00	0.00		None None	None None None None	None
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	4k20002_01 gatk	7	rs76205258 dbSNP Clinvar	38388895	21.77	A	T	.	1/1	2	None	None	None	0.13658	0.13660					None None	None None None None	None
	View	4k20002_01 gatk	7	rs215740 dbSNP Clinvar	32444989	21.77	A	G	.	1/1	2	None	None	None	0.81130	0.81130					None None	None None None None	None
	View	4k20002_01 gatk	7	rs4729868 dbSNP Clinvar	102722505	21.77	G	A	.	1/1	2	None	None	None	0.86681	0.86680					None None	None None None None	ARMC10\|0.030367771\|69.22%
	View	4k20002_01 gatk	7	rs4729869 dbSNP Clinvar	102722516	21.77	T	C	.	1/1	2	None	None	None	0.96685	0.96690					None None	None None None None	ARMC10\|0.030367771\|69.22%
	View	4k20002_01 gatk	7	rs1609545 dbSNP Clinvar	128550894	21.77	G	A	.	1/1	2	None	None	None	0.35923	0.35920					None None	None None None None	None
	View	4k20002_01 gatk	7	rs6945281 dbSNP Clinvar	100735080	21.77	G	C	.	1/1	2	None	None	None	0.80791	0.80790					None None	None None None None	None
	View	4k20002_01 gatk	7	rs529701307 dbSNP Clinvar	20826270	22.75	G	GA	.	0/1	15	None	None	None							None None	None None None None	SP8\|0.179774702\|39.07%
	View	4k20002_01 gatk	7	rs879135778 dbSNP Clinvar	142460503	22.79	T	C	.	0/1	27	None	None	None							None None	None None None None	PRSS1\|0.013065246\|78.46%
	View	4k20002_01 gatk	7	.	142457278	22.79	G	C	.	0/1	43	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	.	142471934	22.79	G	C	.	0/1	13	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	.	142457276	22.79	T	C	.	0/1	39	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	.	142457277	22.79	G	C	.	0/1	42	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	.	142471935	22.79	G	A	.	0/1	13	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs71225144 dbSNP Clinvar	44056175	23.75	CCT	C	.	0/1	10	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs375189373 dbSNP Clinvar	2309158	23.75	TA	T	.	0/1	15	None	None	None	0.20427	0.20430					None None	None None None None	SNX8\|0.067436679\|58.05%
	View	4k20002_01 gatk	7	rs10567930 dbSNP Clinvar	142032115	23.76	CTG	C	.	0/1	3	None	None	None	0.55092	0.55090					None None	None None None None	None
	View	4k20002_01 gatk	7	rs67361882 dbSNP Clinvar	18668945	24.75	AT	A	.	0/1	40	None	None	None	0.32887	0.32890					None None	None None None None	HDAC9\|0.999991068\|0.05%
	View	4k20002_01 gatk	7	rs2392540 dbSNP Clinvar	38259354	24.78	T	G	.	0/1	6	None	None	None	0.15056	0.15060					None None	None None None None	STARD3NL\|0.359113244\|23.49%
	View	4k20002_01 gatk	7	rs76223352 dbSNP Clinvar	100547342	24.78	T	C	.	0/1	54	None	None	None							None None	None None None None	MUC3A\|0.001683398\|91.94%
	View	4k20002_01 gatk	7	rs200512964 dbSNP Clinvar	65082751	24.78	C	G	.	0/1	63	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs201993205 dbSNP Clinvar	143507922	24.78	A	G	.	0/1	7	None	None	None	0.07548	0.07548					None None	None None None None	None
TRBC2
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	4k20002_01 gatk	7	rs868947476 dbSNP Clinvar	142498897	24.78	A	G	.	0/1	5	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	None
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	4k20002_01 gatk	7	rs181221130 dbSNP Clinvar	66764136	24.78	G	A	.	0/1	8	None	None	None	0.13738	0.13740					None None	None None None None	None
	View	4k20002_01 gatk	7	rs375730659 dbSNP Clinvar	142471956	25.74	CA	C	.	0/1	9	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	.	100547423	25.74	GCAC	G	.	0/1	8	None	None	None							None None	None None None None	MUC3A\|0.001683398\|91.94%
MUC17
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	4k20002_01 gatk	7	rs79565573 dbSNP Clinvar	100680251	25.78	G	A	.	0/1	138	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE			0.00146	0.45	0.01		None None	None None None None	MUC17\|0.000618625\|97.79%
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	4k20002_01 gatk	7	.	142471941	25.78	T	A	.	0/1	11	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs769606409 dbSNP Clinvar	142460167	25.78	C	T	.	0/1	12	None	None	None							None None	None None None None	PRSS1\|0.013065246\|78.46%
	View	4k20002_01 gatk	7	.	142471940	25.78	C	A	.	0/1	12	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs548995942,rs60690049,rs397966506 dbSNP Clinvar	121732778	26.74	C	CA	.	0/1	5	None	None	None	0.34066	0.34070					None None	None None None None	AASS\|0.132070987\|45.6%
	View	4k20002_01 gatk	7	rs188964481 dbSNP Clinvar	103808708	26.78	T	C	.	0/1	9	None	None	None	0.00180	0.00180					None None	None None None None	ORC5\|0.570232906\|12.97%
MUC17
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	4k20002_01 gatk	7	rs761940224 dbSNP Clinvar	100678724	26.78	C	A	.	0/1	185	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.32	0.02		None None	None None None None	MUC17\|0.000618625\|97.79%
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	4k20002_01 gatk	7	.	91670318	27.74	AT	A	.	0/1	21	None	None	None							None None	None None None None	AKAP9\|0.267262044\|30.07%
	View	4k20002_01 gatk	7	.	150167851	27.74	TT...	T	.	0/1	9	None	None	None							None None	None None None None	GIMAP8\|0.001557191\|92.51%
	View	4k20002_01 gatk	7	rs3812281 dbSNP Clinvar	135082751	27.77	T	C	.	0/1	12	None	None	None	0.37181	0.37180					None None	None None None None	CNOT4\|0.786535825\|6.19%
	View	4k20002_01 gatk	7	rs6955792 dbSNP Clinvar	33063492	27.77	A	G	.	0/1	7	None	None	None	0.70747	0.70750					None None	None None None None	AVL9\|0.207787031\|35.83%,NT5C3A\|0.150599903\|42.9%
	View	4k20002_01 gatk	7	rs376053513,rs529717783 dbSNP Clinvar	140434611	28.74	AAAG	A	.	0/1	7	None	None	None			0.11465				None None	None None None None	BRAF\|0.683349444\|8.98%
	View	4k20002_01 gatk	7	rs138454658 dbSNP Clinvar	23757011	28.74	TT...	T	.	0/1	8	None	None	None							None None	None None None None	STK31\|0.189005367\|37.93%
	View	4k20002_01 gatk	7	rs62465056 dbSNP Clinvar	66746283	28.77	G	C	.	0/1	34	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs200453156 dbSNP Clinvar	6790900	28.77	T	C	.	0/1	5	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs80263712 dbSNP Clinvar	100547385	28.77	A	G	.	0/1	26	None	None	None							None None	None None None None	MUC3A\|0.001683398\|91.94%
	View	4k20002_01 gatk	7	rs354060 dbSNP Clinvar	149318681	28.77	T	C	.	0/1	17	None	None	None	0.20387	0.20390	0.07474				None None	None None None None	None
	View	4k20002_01 gatk	7	rs17240387 dbSNP Clinvar	81596813	28.77	T	C	.	0/1	8	None	None	None	0.47284	0.47280					None None	None None None None	CACNA2D1\|0.586589445\|12.28%
	View	4k20002_01 gatk	7	rs4720354 dbSNP Clinvar	40229072	28.77	G	A	.	0/1	7	None	None	None	0.53055	0.53060					None None	None None None None	SUGCT\|0.747483152\|7.16%
	View	4k20002_01 gatk	7	rs142576028 dbSNP Clinvar	141321434	29.74	ATG	A	.	0/1	16	None	None	None	0.04273	0.04273					None None	None None None None	AGK\|0.100051817\|51.17%
VWDE
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	4k20002_01 gatk	7	rs6944626 dbSNP Clinvar	12393974	29.77	A	C	.	0/1	3	None	None	None	0.84984	0.84980					None None	None None None None	VWDE\|0.014104761\|77.81%
	View	4k20002_01 gatk	7	rs6944618 dbSNP Clinvar	12393966	29.77	A	G	.	0/1	4	None	None	None	0.85004	0.85000		0.01	0.05		None None	None None None None	VWDE\|0.014104761\|77.81%

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Genes at Omim

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Summary

VWDE

ZNF736

MUC17

MUC3A

ERVW-1

CTAGE8

GTF2IRD2B

TRBV5-5

TRGV9

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MUC17

MUC17

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