+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 469

Genes:
AADACL3, ACACB, ACADS, ACLY, ACSM2A, ACTR8, ACVR1, ADA, ADAM2, ADCK3, ADCY10, ADH1C, AGO2, ALDH3B1, ALDH4A1, ALG12, ALG9, ALOX15B, ANAPC1, ANKRD30B, ANKUB1, ANPEP, AOAH, APC, APEX1, APOBEC2, APOH, AQP2, AQR, ARHGEF16, ARMS2, ARNT, ARSB, ARSD, ARSH, ART5, ASMTL, B3GAT2, BARD1, BCL6B, BECN1, BPIFA2, BPIFB6, BRD2, BSCL2, C12orf60, C2orf83, C5orf20, C8orf37, CA6, CA8, CASP12, CASR, CBR3, CCDC101, CCDC144NL, CCHCR1, CD180, CD207, CD6, CDC20B, CHI3L1, CHI3L2, CHIA, CIB3, CKAP5, CKB, CLC, CLDN5, CLTCL1, CNTNAP4, COL18A1, COL22A1, COL26A1, COL6A3, COL9A3, COMT, CPB2, CPOX, CREB3L1, CRYBA4, CSF3R, CTD-3193O13.9, CTDNEP1, CTXN1, CYFIP2, CYP11A1, CYP11B2, CYTH3, DAAM1, DAB1, DAO, DBI, DCAF7, DCPS, DDX27, DIXDC1, DLG1, DMBT1, DNAH17, DNAH5, DOCK1, DPEP2, DPP6, DPYSL2, DSP, DTX4, DYX1C1, EBLN2, ECHDC3, EGFR, EI24, EIF2AK3, EIF4H, EIF5B, EMILIN1, EML3, ENPP2, ENPP4, EP300, EPHA2, EPHX2, ERAP1, ERAP2, ERCC6, ERCC6L2, ERN1, ESPL1, EXOSC4, EYS, F11, FAM134A, FAM134B, FAM187B, FAM188B, FAM228B, FAM71C, FAM71E2, FAM96A, FASN, FBRSL1, FBXL21, FBXO42, FCRL3, FDFT1, FES, FGF1, FGFR2, FLT4, FOLH1, FOS, FOSB, FOXD4, FOXO4, GAB4, GABRR3, GALM, GALNS, GBE1, GBP1, GDPD4, GIMAP2, GMPR, GPR113, GPRIN2, GTPBP2, H2BFM, HAAO, HAS1, HBB, HCN1, HGS, HIF1AN, HK2, HK3, HLX, HMGCS1, HNF4G, HOXD12, HRAS, HRG, HSD17B14, HSH2D, HSPA6, HSPA9, HYDIN, IFI16, IGDCC4, IGHMBP2, IL22RA1, IL27RA, IL2RG, ILK, INPP5E, IQSEC3, ITIH5, ITIH6, ITPR2, ITSN2, JMJD1C, KANK4, KAZALD1, KCNK15, KCNMB3, KDM2A, KDM8, KIAA1614, KIFC1, KLHL4, KLRC1, KPNA2, KRAS, KRBA1, KRT24, KRTAP1-5, KRTAP5-6, LAMP3, LCN10, LEPREL2, LGR5, LIG4, LIPE, LMAN1, LRP6, LRRK2, MAN2B2, MAP2K3, MAP3K4, MAP3K8, MAPK12, MAPK8IP2, MAPKAP1, MARCH7, MAT1A, MB21D1, MEFV, MEGF6, MEP1B, METTL8, MICA, MINA, MMP28, MNS1, MOB3C, MROH5, MS4A14, MSMP, MTAP, MTMR2, MUS81, MVK, MYH11, MYH4, MYLK3, MYOM1, NACA2, NBAS, NCAPH2, NCBP1, NCF2, NCOA7, NDST2, NEK2, NET1, NEU2, NFATC2, NFE2L1, NLRC3, NLRP14, NLRP8, NLRX1, NME3, NOP16, NPC1, NPPA, NPRL3, NQO1, NTN5, NUDT11, NUDT18, NUP54, NWD1, OAS2, OASL, OPLAH, OR10H5, OR10X1, OR11G2, OR13A1, OR13C8, OR1B1, OR2L8, OR2M4, OR2T12, OR2T35, OR4C11, OR4C3, OR4K14, OR4L1, OR4P4, OR4X1, OR4X2, OR51I1, OR52D1, OR52E8, OR5A1, OR5AC2, OR5AR1, OR5H15, OR5M1, OR6C1, OR6C74, OR8K1, OR9K2, P2RX5, PADI2, PAX8, PCDH10, PCK1, PDE10A, PDE4B, PDE4DIP, PDE5A, PDXK, PFKP, PGPEP1L, PIK3C2G, PIK3R6, PIR, PKD1L2, PLA2G2C, PLCB3, PLEKHA2, PLXNB1, PNP, PPIC, PPP1R9B, PPP2R2C, PPP5C, PRIM1, PRIM2, PRKAA2, PRKCD, PRKDC, PRSS45, PRSS48, PSAT1, PSMC3, PTCHD3, PTGR2, PTPN6, PVRIG, RAP1GAP2, RAPGEF6, RBBP4, RECQL4, RELA, RIBC2, RIPK1, RMDN2, RMI2, RNASET2, RNF43, RNF8, ROR2, RP11-156E8.1, RPA1, RPS21, RRM1, RRM2B, RSF1, RSRC2, SARM1, SATL1, SBK3, SCAMP1, SCAPER, SCML2, SCRN3, SDSL, SEC14L3, SEC14L4, SENP3, SERPINB2, SETMAR, SGPL1, SHARPIN, SIRT3, SLC12A5, SLC22A10, SLC26A3, SLC39A7, SLC46A1, SLC4A3, SLC5A9, SLC6A18, SND1, SNRNP200, SNRPA1, SON, SORL1, SPECC1L, SPHK1, SRRM3, SSTR3, STK10, STON1, SUCLG2, SULT1C3, SULT2A1, SYK, TAAR9, TAS2R46, TES, TGIF1, TGOLN2, THSD7A, TICRR, TIGD6, TLR10, TMEM120A, TMPRSS11A, TNFAIP6, TNFSF10, TNFSF15, TNFSF9, TNRC6B, TOM1, TP73, TPH2, TPTE, TRAP1, TSGA10IP, TST, TTC4, TWF2, UGGT2, ULK3, UMODL1, UMPS, USP2, USP29, VSIG10L, VWF, WAPAL, WARS, WAS, WDR5, WNK1, WNT1, WWTR1, XDH, XYLB, YLPM1, YWHAG, ZADH2, ZAN, ZBTB6, ZDHHC3, ZNF117, ZNF211, ZNF480, ZNF513, ZNF516, ZNF544, ZNF607, ZNF609, ZNF823, ZNF880,

+ Genes associated with diseases 118

Genes at Omim

ACADS, ACVR1, ADA, ADCK3, ADCY10, ADH1C, ALDH4A1, ALG12, ALG9, APC, AQP2, ARSB, BARD1, BSCL2, C8orf37, CA8, CASP12, CASR, CD207, CHI3L1, COL18A1, COL6A3, COL9A3, COMT, CPOX, CREB3L1, CRYBA4, CSF3R, CYFIP2, CYP11A1, CYP11B2, DAB1, DCPS, DNAH5, DPP6, DSP, EGFR, EIF2AK3, EP300, EPHA2, EPHX2, ERCC6, ERCC6L2, EYS, F11, FAM134B, FDFT1, FGFR2, FLT4, GALNS, GBE1, GTPBP2, HAAO, HBB, HCN1, HRAS, HRG, HSPA9, HYDIN, IGHMBP2, IL2RG, INPP5E, ITPR2, KRAS, LIG4, LIPE, LMAN1, LRP6, LRRK2, MAP3K8, MAT1A, MEFV, MTAP, MTMR2, MVK, MYH11, NBAS, NCF2, NEK2, NPC1, NPC1, NPPA, NPRL3, NQO1, OPLAH, PAX8, PCK1, PDE10A, PNP, PRKCD, PRKDC, PSAT1, RECQL4, RELA, RIPK1, RNASET2, RNF43, ROR2, RRM2B, SCAPER, SGPL1, SLC12A5, SLC26A3, SLC46A1, SNRNP200, SON, SPECC1L, TGIF1, TPH2, UMPS, VWF, WARS, WAS, WNK1, WNT1, XDH, YWHAG, ZNF513,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG12 Congenital disorder of glycosylation, type Ig, 607143 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (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)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
BSCL2 Lipodystrophy, congenital generalized, type 2, 269700 (3)
Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
Silver spastic paraplegia syndrome, 270685 (3)
C8orf37 Bardet-Biedl syndrome 21, 617406 (3)
Cone-rod dystrophy 16, 614500 (3)
Retinitis pigmentosa 64, 614500 (3)
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)
CASP12 {Sepsis, susceptibility to} (3)
CASR Hyperparathyroidism, neonatal, 239200 (3)
Hypocalcemia, autosomal dominant, 601198 (3)
Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)
Hypocalciuric hypercalcemia, type I, 145980 (3)
{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL9A3 {Intervertebral disc disease, susceptibility to}, 603932 (3)
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CRYBA4 Cataract 23, 610425 (3)
CSF3R Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
CYP11A1 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
DAB1 Spinocerebellar ataxia 37, 615945 (3)
DCPS Al-Raqad syndrome, 616459 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (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)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
EYS Retinitis pigmentosa 25, 602772 (3)
F11 Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
FLT4 Hemangioma, capillary infantile, somatic, 602089 (3)
Lymphatic malformation 1, 153100 (3)
GALNS Mucopolysaccharidosis IVA, 253000 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GTPBP2 Jaberi-Elahi syndrome, 617988 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
HBB Heinz body anemia, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
{Malaria, resistance to}, 611162 (3)
Delta-beta thalassemia, 141749 (3)
Erythrocytosis 6, 617980 (3)
Methmoglobinemia, beta type, 617971 (3)
Sickle cell anemia, 603903 (3)
Thalassemia, beta, 613985 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
HCN1 Epileptic encephalopathy, early infantile, 24, 615871 (3)
HRAS Bladder cancer, somatic, 109800 (3)
Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Spitz nevus or nevus spilus, somatic, 137550 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
HRG Thrombophilia due to HRG deficiency, 613116 (3)
Thrombophilia due to elevated HRG, 613116 (1)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IL2RG Combined immunodeficiency, X-linked, moderate, 312863 (3)
Severe combined immunodeficiency, X-linked, 300400 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
ITPR2 ?Anhidrosis, isolated, with normal sweat glands, 106190 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
LIG4 {Multiple myeloma, resistance to}, 254500 (3)
LIG4 syndrome, 606593 (3)
LIPE Lipodystrophy, familial partial, type 6, 615980 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MTMR2 Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
MYH11 Aortic aneurysm, familial thoracic 4, 132900 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPPA Atrial fibrillation, familial, 6, 612201 (3)
Atrial standstill 2, 615745 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NQO1 {Leukemia, post-chemotherapy, susceptibility to} (3)
{Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PAX8 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
PRKCD Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RELA ?Mucocutaneous ulceration, chronic, 618287 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SGPL1 Nephrotic syndrome, type 14, 617575 (3)
SLC12A5 Epileptic encephalopathy, early infantile, 34, 616645 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
SLC26A3 Diarrhea 1, secretory chloride, congenital, 214700 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SON ZTTK syndrome, 617140 (3)
SPECC1L Hypertelorism, Teebi type, 145420 (3)
?Facial clefting, oblique, 1, 600251 (3)
Opitz GBBB syndrome, type II, 145410 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
UMPS Orotic aciduria, 258900 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
WAS Neutropenia, severe congenital, X-linked, 300299 (3)
Thrombocytopenia, X-linked, 313900 (3)
Thrombocytopenia, X-linked, intermittent, 313900 (3)
Wiskott-Aldrich syndrome, 301000 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
WNT1 {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3)
Osteogenesis imperfecta, type XV, 615220 (3)
XDH Xanthinuria, type I, 278300 (3)
YWHAG Epileptic encephalopathy, early infantile, 56, 617665 (3)
ZNF513 ?Retinitis pigmentosa 58, 613617 (3)

Genes at Clinical Genomics Database

ACADS, ACVR1, ADA, ADCK3, ALDH4A1, ALG12, ALG9, APC, AQP2, ARSB, BARD1, BSCL2, CA8, CASR, CD207, COL18A1, COL6A3, COL9A3, COMT, CPOX, CREB3L1, CRYBA4, CSF3R, CYP11A1, CYP11B2, DCPS, DNAH5, DPP6, DSP, DYX1C1, EGFR, EIF2AK3, EP300, EPHA2, ERCC6, ERCC6L2, EYS, F11, FAM134B, FGFR2, FLT4, GALNS, GBE1, HBB, HCN1, HRAS, HRG, HSPA9, IGHMBP2, IL2RG, INPP5E, ITPR2, KRAS, LIG4, LIPE, LMAN1, LRP6, LRRK2, MAT1A, MEFV, MTAP, MTMR2, MVK, MYH11, NBAS, NCF2, NEK2, NPC1, NPPA, OPLAH, PAX8, PDE10A, PNP, PRKCD, PRKDC, PSAT1, RECQL4, RNASET2, ROR2, RRM2B, SLC12A5, SLC26A3, SLC46A1, SNRNP200, SPECC1L, TGIF1, TRAP1, UMPS, VWF, WAS, WNK1, WNT1, XDH, ZNF480, ZNF513,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACVR1 Fibrodysplasia ossificans progressiva
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
ALDH4A1 Hyperprolinemia, type II
ALG12 Congenital disorder of glycosylation, type Ig
ALG9 Congenital disorder of glycosylation, type Il
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
AQP2 Diabetes insipidus, nephrogenic, autosomal
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
BARD1 Breast cancer, susceptibility to
BSCL2 Lipodystrophy, congenital generalized, type 2
Encephalopathy, progressive, with or without lipodystrophy
CA8 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
CASR Hyperparathyroidism, neonatal
Hypocalcemia, autosomal dominant
Hypocalcemia, autosomal dominant, with Bartter syndrome
Hypocalciuric hypercalcemia, type I
Hyperparathyroidism, neonatal severe primary
Hypoparathyroidism, familial isolated
Hyperparathyroidism, familial primary
CD207 Birbeck granule deficiency
COL18A1 Knobloch syndrome 1
COL6A3 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
Dystonia 27
COL9A3 Epiphyseal dysplasia, multiple, 3
COMT Medication response, association with
CPOX Coproporphyria
Harderoporphyria
CREB3L1 Osteogenesis imperfecta, type XVI
CRYBA4 Cataract 23
CSF3R Neutrophilia, hereditary
CYP11A1 Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
DCPS Al-Raqad syndrome
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DPP6 Ventricular fibrillation, paroxysmal familial, 2
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DYX1C1 Ciliary dyskinesia, primary 25
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
EP300 Rubinstein-Taybi syndrome 2
EPHA2 Cataract 6, multiple types
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
ERCC6L2 Bone marrow failure syndrome 2
EYS Retitinis pigmentosa 25
F11 Factor XI deficiency
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
FLT4 Lymphedema, hereditary I (Milory disease)
GALNS Mucopolysaccharidosis IVA (Morquio syndrome A)
GBE1 Glycogen storage disease IV
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HCN1 Epileptic encephalopathy, early infantile, 24
HRAS Costello syndrome
Congenital myopathy with excess of muscle spindles
HRG Thrombophilia due to histidine-rich glycoprotein deficiency
HSPA9 Anemia, sideroblastic 4
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
IL2RG Combined immunodeficiency, X-linked
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
ITPR2 Anhidrosis, isolated, with normal sweat glands (Dann-Epstein-Sohar syndrome)
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
LIG4 LIG4 syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
LIPE Abdominal obesity-metabolic syndrome 4
LMAN1 Combined factor V and VIII deficiency
LRP6 Coronary artery disease, autosomal dominant 2
LRRK2 Parkinson disease 8
Dementia, Lewy body
MAT1A Methionine adenosyltransferase deficiency
MEFV Familial Mediterranean fever
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MTMR2 Charcot-Marie-Tooth disease, type 4B1
MVK Mevalonic aciduria
Hyper-IgD syndrome
MYH11 Aortic aneurysm, familial thoracic 4
NBAS Infantile liver failure syndrome 2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NEK2 Retinitis pigmentosa 67
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
NPPA Atrial fibrillation, familial, 6
Atrial standstill 2
OPLAH 5-oxoprolinase deficiency
PAX8 Hypothyroidism, congenital, nongoitrous 2
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PNP Purine nucleoside phosphorylase deficiency
PRKCD Autoimmune lymphoproliferative syndrome type III
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PSAT1 Phosphoserine aminotransferase deficiency
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC26A3 Diarrhea 1, secretory chloride, congenital
SLC46A1 Folate malabsorption, hereditary
SNRNP200 Retinitis pigmentosa 33
SPECC1L Facial clefting, oblique, 1
Opitz GBBB syndrome, type II
TGIF1 Holoprosencephaly 4
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
UMPS Orotic aciduria
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WAS Wiskott-Aldrich syndrome
Thrombocytopenia 1
Neutropenia, severe congenital, X-linked
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
WNT1 Osteoprosis, autosomal dominant
Osteogenesis imperfecta, type XV
XDH Xanthinuria, type I
ZNF480 Schizophrenia
ZNF513 Retinitis pigmentosa 58

Genes at HGMD

Summary

Number of Variants: 511
Number of Genes: 469

Export to: CSV

H2BFM
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 X rs2301384
dbSNP Clinvar 		103294760 272.668 C T PASS 1/1 30 STOP_GAINED HIGH None 0.30649 0.30650 0.31444 None None None None None None H2BFM|0.000467272|98.6%

ARSH
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 X rs200124099
dbSNP Clinvar 		2942106 130.98 A AC PASS 1/1 46 FRAME_SHIFT HIGH None None None None None None None ARSH|0.004353843|86.54%

PIR
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 X rs8094
dbSNP Clinvar 		15415583 166.494 C T PASS 1/1 21 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43815 0.43810 0.49068 None None None None None None PIR|0.499774334|15.81%

SCML2
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 X rs3213544
dbSNP Clinvar 		18342034 295.562 G A PASS 1/1 32 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21378 0.21380 0.23535 None None None None None None SCML2|0.011157276|79.9%

WAS
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 X . 48547383 23.2868 CG C PASS 0/1 26 FRAME_SHIFT HIGH None None None None None None None WAS|0.194342372|37.38%

NUDT11
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 X rs782744505,rs78182391
dbSNP Clinvar 		51239295 149.042 AT... A PASS 1/1 37 FRAME_SHIFT+START_LOST HIGH None 0.63735 0.63740 0.07187 None None None None None None NUDT11|0.016769294|76.04%

ITIH6
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 X . 54824605 102.821 CAA C PASS 1/1 33 FRAME_SHIFT HIGH None None None None None None None ITIH6|0.007125376|83.38%

FOXO4
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 X . 70316613 127.552 GGC G,GG PASS 2/2 34 FRAME_SHIFT HIGH None None None None None None None FOXO4|0.64424919|10.31%

IL2RG
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 X rs769405722
dbSNP Clinvar 		70327613 21.3053 TG T PASS 0/1 23 FRAME_SHIFT HIGH None None None None None None None IL2RG|0.056339711|60.83%

SATL1
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 X rs201698668
dbSNP Clinvar 		84349207 357.173 G C PASS 1/1 39 STOP_GAINED HIGH None 0.00185 0.00185 0.00019 None None None None None None SATL1|0.000341371|99.25%

KLHL4
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 X . 86887385 22.2062 CA C PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None KLHL4|0.081693966|54.83%

ARSD
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 X rs780429990
dbSNP Clinvar 		2836137 187.005 CG CA,C PASS 0/1 81 FRAME_SHIFT HIGH None None None None None None None ARSD|0.001611053|92.29%

ASMTL
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 X rs3183025
dbSNP Clinvar 		1554649 481.526 T C PASS 1/1 53 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.38478 0.38480 0.37514 None None None None None None ASMTL|0.001996891|91.03%

NCBP1
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 9 rs11554641
dbSNP Clinvar 		100396172 109.776 G A PASS 0/1 32 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.00459 0.00459 0.00761 None None None None None None NCBP1|0.47906273|16.81%

ZBTB6
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 9 . 125673115 20.4635 GT G PASS 0/1 17 FRAME_SHIFT HIGH None None None None None None None ZBTB6|0.43121992|19.08%

OR1B1
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 9 rs11421222,rs78126045
dbSNP Clinvar 		125391770 87.8669 C CA PASS 1/1 33 FRAME_SHIFT HIGH None 0.40855 0.40850 0.47541 None None None None None None OR1B1|0.014476392|77.51%

TNFSF15
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 9 rs3810936
dbSNP Clinvar 		117552885 590.091 T C PASS 1/1 64 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.71106 0.71110 0.24727 None None None None None None TNFSF15|0.088374278|53.57%

OR13C8
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 9 . 107331672 35.18 GT... G PASS 0/1 43 FRAME_SHIFT HIGH None None None None None None None OR13C8|0.037816761|66.52%

MAPKAP1
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 9 rs2070113
dbSNP Clinvar 		128246786 52.0171 G A PASS 0/1 30 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.16374 0.16370 0.17823 None None None None None None MAPKAP1|0.970497768|1.7%

ERCC6L2
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 9 rs690528
dbSNP Clinvar 		98638288 246.048 A G PASS 0/1 158 START_LOST HIGH None 0.25240 0.25240 0.24126 0.71 0.00 None None None None None None ERCC6L2|0.051614036|62.16%

MTAP
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 9 rs7023954
dbSNP Clinvar 		21816758 34.7138 G A PASS 0/1 23 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.38818 0.38820 0.42173 0.18 0.02 None None None None None None MTAP|0.185455845|38.31%

ROR2
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 9 rs10992063
dbSNP Clinvar 		94486688 274.778 G A PASS 0/1 77 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41534 0.41530 0.43265 None None None None None None ROR2|0.086953788|53.78%

SYK
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 9 rs2290887
dbSNP Clinvar 		93640009 191.654 G A PASS 0/1 81 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19609 0.19610 0.16477 None None None None None None SYK|0.389151875|21.47%
View tsvc_variants_ionxpress_001-5225 9 rs2290888
dbSNP Clinvar 		93639973 204.631 G C PASS 0/1 90 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19649 0.19650 0.16523 None None None None None None SYK|0.389151875|21.47%
View tsvc_variants_ionxpress_001-5225 9 rs35758162
dbSNP Clinvar 		93606309 193.078 G A PASS 0/1 91 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.11102 0.11100 0.17869 None None None None None None SYK|0.389151875|21.47%

PSAT1
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 9 rs3739474
dbSNP Clinvar 		80919756 466.165 T G PASS 1/1 50 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49940 0.49940 0.36437 None None None None None None PSAT1|0.361862875|23.31%

MSMP
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 9 . 35754069 20.0546 T TC PASS 0/1 36 FRAME_SHIFT HIGH None None None None None None None RGP1|0.260192873|30.72%,MSMP|0.218073882|34.6%

SYK
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 9 rs2306041
dbSNP Clinvar 		93641175 252.864 C T PASS 0/1 143 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19828 0.19830 0.16785 None None None None None None SYK|0.389151875|21.47%

INPP5E
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 9 . 139333503 165.904 GGC G,GG PASS 2/2 43 FRAME_SHIFT HIGH None None None None None None None INPP5E|0.014755828|77.32%

WDR5
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 9 rs34523253
dbSNP Clinvar 		137017126 124.185 A G PASS 0/1 81 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07867 0.07867 0.09011 None None None None None None WDR5|0.18423131|38.43%

FOXD4
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 9 rs79220013
dbSNP Clinvar 		116800 37.1263 C G PASS 0/1 89 STOP_LOST HIGH None 0.20310 None None None None None None FOXD4|0.006056969|84.51%

LCN10
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 9 rs9886752
dbSNP Clinvar 		139634495 48.8501 G A PASS 0/1 28 STOP_GAINED HIGH None 0.19928 0.19930 0.16256 None None None None None None LCN10|0.001307936|93.85%

CYP11B2
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 8 rs4539
dbSNP Clinvar 		143996539 339.296 T C PASS 1/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34645 0.34640 0.37660 0.58 0.00 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

RECQL4
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 8 rs11342077,rs398010167
dbSNP Clinvar 		145738767 240.436 CG C PASS 1/1 42 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 None None None None None None RECQL4|0.005456729|85.27%

SHARPIN
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 8 rs11136254
dbSNP Clinvar 		145158503 319.959 G T PASS 1/1 34 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.88478 0.88480 0.08510 None None None None None None SHARPIN|0.010301793|80.64%

EXOSC4
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 8 . 145135311 109.669 GC G PASS 1/1 55 FRAME_SHIFT HIGH None None None None None None None EXOSC4|0.403537324|20.54%

OPLAH
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 8 rs60949781,rs796594277
dbSNP Clinvar 		145106938 1067.81 GCC G PASS 1/1 180 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00209 None None None None None None OPLAH|0.085381041|54.08%

MROH5
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 8 . 142458052 111.024 TA T,TG PASS 0/2 55 FRAME_SHIFT+STOP_LOST HIGH None None None None None None None MROH5|0.004135597|86.82%

COL22A1
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 8 . 139737648 30.4385 AG A PASS 0/1 44 FRAME_SHIFT HIGH None None None None None None None COL22A1|0.06710202|58.12%

AGO2
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 8 rs2292781
dbSNP Clinvar 		141559358 588.217 G A PASS 1/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%

FDFT1
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 8 rs904011
dbSNP Clinvar 		11683653 1086.23 T C PASS 1/1 129 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.97504 0.97500 0.02630 None None None None None None FDFT1|0.104063444|50.39%

CYP11B2
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 8 rs4538
dbSNP Clinvar 		143994702 612.51 G T PASS 1/1 66 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

C8orf37
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 8 . 96264418 27.2259 GA G PASS 0/1 16 FRAME_SHIFT HIGH None None None None None None None C8orf37|0.081120216|54.96%

RRM2B
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 8 rs5893603
dbSNP Clinvar 		103250839 54.5772 C CG PASS 0/1 47 FRAME_SHIFT HIGH None 0.05132 0.05132 None None None None None None RRM2B|0.505193737|15.56%

HNF4G
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 8 . 76452312 238.604 AG A,AA PASS 1/1 29 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None HNF4G|0.305567429|27.17%

ENPP2
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 8 . 120575183 37.5606 TG T PASS 0/1 67 FRAME_SHIFT HIGH None None None None None None None ENPP2|0.381803066|21.93%

DPYSL2
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 8 rs327222
dbSNP Clinvar 		26481771 628.555 T C PASS 1/1 69 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93670 0.93670 0.04006 None None None None None None DPYSL2|0.481859756|16.66%

CA8
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 8 rs7464181
dbSNP Clinvar 		61178574 178.896 T C PASS 0/1 87 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50100 0.50100 0.47178 None None None None None None CA8|0.652125387|10.02%

ADAM2
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 8 . 39626980 55.0193 GA G PASS 1/1 22 FRAME_SHIFT HIGH None None None None None None None ADAM2|0.001389764|93.41%

PLEKHA2
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 8 rs5891050,rs398007544
dbSNP Clinvar 		38827185 109.466 GC G PASS 1/1 20 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00009 None None None None None None PLEKHA2|0.247298578|31.8%

PRKDC
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 8 rs11411516,rs370106149,rs397814002
dbSNP Clinvar 		48805816 690.202 A AG,G PASS 1/2 80 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00078 None None None None None None PRKDC|0.642781418|10.36%

EPHX2
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 8 rs751141
dbSNP Clinvar 		27373865 185.703 G A PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12959 0.12960 0.10218 0.03 0.94 None None None None None None EPHX2|0.350156856|24.1%

NUDT18
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 8 rs58343576,rs796630966
dbSNP Clinvar 		21966707 73.1685 CG C PASS 1/1 13 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00076 None None None None None None NUDT18|0.065277959|58.56%

EIF4H
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 7 . 73609131 23.3673 GC G PASS 0/1 56 FRAME_SHIFT HIGH None None None None None None None EIF4H|0.384121301|21.78%

COL26A1
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 7 rs36008849,rs398095266
dbSNP Clinvar 		101200669 277.999 A AG PASS 1/1 53 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00137 None None None None None None COL26A1|0.059520302|60.03%

ZAN
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 7 rs72364644,rs369526619
dbSNP Clinvar 		100385561 496.576 GG... G PASS 1/1 82 FRAME_SHIFT+STOP_LOST HIGH None 0.23702 0.23700 0.35921 None None None None None None ZAN|0.002173013|90.5%

SRRM3
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 7 rs75544239,rs370904808
dbSNP Clinvar 		75914934 422.182 G GC PASS 1/1 87 FRAME_SHIFT HIGH None 0.99980 0.99980 0.00535 None None None None None None SRRM3|0.050752561|62.44%

TMEM120A
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 7 rs4732519
dbSNP Clinvar 		75621827 538.848 A G PASS 1/1 60 STOP_LOST HIGH None 1.00000 1.00000 None None None None None None None

YWHAG
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 7 rs2072435
dbSNP Clinvar 		75959188 130.848 G A PASS 0/1 42 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31250 0.31250 0.29094 None None None None None None YWHAG|0.604412907|11.66%

ZNF117
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 7 rs1404453
dbSNP Clinvar 		64438667 348.745 G A PASS 1/1 39 STOP_GAINED HIGH None 0.88179 0.88180 0.10150 None None None None None None ZNF117|0.000669116|97.44%

DPP6
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 7 rs3807218
dbSNP Clinvar 		154461112 501.732 A G PASS 1/1 59 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79732 0.79730 0.16409 None None None None None None DPP6|0.155216903|42.27%

GIMAP2
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 7 rs6952002
dbSNP Clinvar 		150389677 87.7338 G C PASS 0/1 40 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49022 0.49020 0.48524 None None None None None None GIMAP2|0.001126364|94.81%

KRBA1
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 7 rs11424737
dbSNP Clinvar 		149426305 533.691 G GC PASS 1/1 106 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00112 None None None None None None KRBA1|0.003479568|87.8%

EGFR
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 7 rs1050171
dbSNP Clinvar 		55249063 357.423 G A PASS 1/1 39 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43271 0.43270 0.45756 None None None None None None EGFR|0.999639222|0.3%

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 tsvc_variants_ionxpress_001-5225 7 rs59476355
dbSNP Clinvar 		36552729 112.66 A AT PASS 1/1 28 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%

FAM188B
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 7 . 30915262 174.014 CA TG PASS 0/1 64 START_LOST HIGH None None None None None None None FAM188B|0.025227559|71.7%,AQP1|0.308533326|26.95%

DPP6
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 7 rs56091483
dbSNP Clinvar 		154561188 82.6164 C T PASS 0/1 43 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.09685 0.09685 0.08817 None None None None None None DPP6|0.155216903|42.27%

SLC26A3
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 7 rs121913032
dbSNP Clinvar 		107431504 71.9498 C A PASS 0/1 32 STOP_GAINED HIGH None None None None None None None SLC26A3|0.056559277|60.78%

TES
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 7 rs4710
dbSNP Clinvar 		115897392 119.133 G C PASS 0/1 68 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.39896 0.39900 0.30794 None None None None None None TES|0.907015095|3.3%

SND1
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 7 rs322825
dbSNP Clinvar 		127721507 468.893 T C PASS 1/1 50 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67252 0.67250 0.24927 None None None None None None SND1|0.892258294|3.61%

THSD7A
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 7 . 11676104 264.815 CG... CG... PASS 1/3 30 FRAME_SHIFT HIGH None None None None None None None THSD7A|0.279550197|29.12%

CYTH3
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 7 rs2301910
dbSNP Clinvar 		6204999 152.319 A C PASS 0/1 90 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79513 0.79510 0.25331 None None None None None None CYTH3|0.105093333|50.21%

PVRIG
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 7 rs7786505
dbSNP Clinvar 		99817585 466.17 G T PASS 1/1 50 STOP_GAINED HIGH None 0.15415 0.15420 0.22270 None None None None None None STAG3|0.033904803|67.81%,GATS|0.004892386|85.92%,PVRIG|0.001754281|91.66%

RNF8
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 6 rs2284922
dbSNP Clinvar 		37349033 357.445 G A PASS 1/1 39 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.56030 0.56030 0.40428 None None None None None None RNF8|0.134621099|45.15%

MICA
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 6 rs41293539
dbSNP Clinvar 		31380161 262.244 G GCT PASS 1/1 46 FRAME_SHIFT HIGH None 0.00659 0.23380 None None None None None None MICA|0.000484981|98.52%

BRD2
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 6 . 32942301 655.778 AG A,AA PASS 1/1 71 FRAME_SHIFT HIGH None None None None None None None BRD2|0.972652512|1.63%

KIFC1
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 6 . 33374111 96.8877 GC G PASS 1/1 28 FRAME_SHIFT HIGH None None None None None None None KIFC1|0.074961966|56.3%

SLC39A7
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 6 . 33169040 60.4991 GGC G,GG PASS 2/2 28 FRAME_SHIFT HIGH None None None None None None None SLC39A7|0.123506948|46.89%

MAP3K4
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 6 rs5881391,rs113801384,rs752044838,rs573460061
dbSNP Clinvar 		161519350 172.346 CCTG CC,C PASS 2/2 27 FRAME_SHIFT HIGH None None None None None None None MAP3K4|0.062523546|59.19%

PDE10A
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 6 rs139267725
dbSNP Clinvar 		165801865 94.7624 G A PASS 0/1 69 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00020 0.00020 0.00008 None None None None None None PDE10A|0.09491062|52.15%

RNASET2
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 6 rs11159
dbSNP Clinvar 		167343141 189.264 G A PASS 0/1 59 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07548 0.07548 0.08781 0.03 0.08 None None None None None None RNASET2|0.003223903|88.28%

NCOA7
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 6 rs749319230
dbSNP Clinvar 		126176316 23.0517 GA G PASS 0/1 24 FRAME_SHIFT HIGH None None None None None None None NCOA7|0.162415642|41.24%

TAAR9
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 6 rs2842899
dbSNP Clinvar 		132859609 512.395 T A PASS 1/1 52 STOP_LOST HIGH None 0.80571 0.80570 0.23857 None None None None None None None

CCHCR1
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 6 rs3130453
dbSNP Clinvar 		31124849 353.74 C T PASS 1/1 39 STOP_GAINED HIGH None 0.46925 0.46920 0.48507 None None None None None None CCHCR1|0.032661886|68.3%

GMPR
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 6 rs759597692
dbSNP Clinvar 		16290829 83.791 C T PASS 0/1 46 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None GMPR|0.264027636|30.37%

APOBEC2
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 6 rs41273362
dbSNP Clinvar 		41029294 202.446 C A PASS 1/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00220 0.00220 0.00692 0.00 0.98 None None None None None None OARD1|0.582190497|12.48%,APOBEC2|0.303648666|27.39%

PRIM2
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 6 rs4535533
dbSNP Clinvar 		57467100 509.31 G C PASS 0/1 138 STOP_LOST HIGH None None None None None None None PRIM2|0.188824743|37.96%

RIPK1
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 6 rs2272990
dbSNP Clinvar 		3077141 608.604 T C PASS 1/1 72 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.84884 0.84880 0.08519 None None None None None None RIPK1|0.094475501|52.24%

DSP
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 6 rs2076300
dbSNP Clinvar 		7584617 61.527 C T PASS 0/1 26 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21166 0.21170 0.30225 None None None None None None DSP|0.573194355|12.87%

GTPBP2
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 6 . 43589843 449.004 ATC A PASS 1/1 74 FRAME_SHIFT HIGH None None None None None None None GTPBP2|0.262700619|30.5%

ENPP4
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 6 rs9472696
dbSNP Clinvar 		46108916 665.107 C G PASS 1/1 77 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.09345 0.09345 0.09177 None None None None None None ENPP4|0.141883971|44.16%

EYS
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 6 . 65301366 76.1621 GC G PASS 0/1 145 FRAME_SHIFT HIGH None None None None None None None EYS|0.327790298|25.63%

B3GAT2
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 6 . 71665986 31.613 GC G PASS 0/1 55 FRAME_SHIFT HIGH None None None None None None None B3GAT2|0.224931204|33.88%

MB21D1
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 6 rs311678
dbSNP Clinvar 		74135016 169.476 C T PASS 1/1 23 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.71805 0.71810 0.28033 None None None None None None MB21D1|0.002654517|89.36%

NOP16
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 rs56989856,rs397961096
dbSNP Clinvar 		175811094 193.511 C CGT PASS 1/1 37 FRAME_SHIFT HIGH None None None None None None None ARL10|0.060845523|59.64%,NOP16|0.115932648|48.14%

STK10
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 rs2306962
dbSNP Clinvar 		171533656 52.6506 C T PASS 0/1 43 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.68451 0.68450 0.37583 None None None None None None STK10|0.099730902|51.23%

CYFIP2
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 rs5872508,rs397781034,rs397712438
dbSNP Clinvar 		156721863 531.847 T TC PASS 1/1 124 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00203 None None None None None None CYFIP2|0.509393402|15.41%

CD180
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 rs1697144
dbSNP Clinvar 		66480004 504.957 T C PASS 1/1 54 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None CD180|0.02755401|70.63%

CDC20B
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 rs137940833
dbSNP Clinvar 		54468431 31.8468 AC... A PASS 0/1 32 FRAME_SHIFT HIGH None 0.00839 0.00839 0.01214 None None None None None None CDC20B|0.017878528|75.36%

FLT4
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 . 180055896 100.596 CG C PASS 1/1 56 FRAME_SHIFT HIGH None None None None None None None FLT4|0.206670635|35.92%