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+ Genes 341

Genes:
AASDH, ABLIM2, ACOX3, ACSL1, ADAMTS3, ADD1, ADH1B, ADH1C, ADH4, ADH6, AFAP1, AFF1, AFP, AGA, AGPAT9, ALB, ALPK1, AMBN, AMTN, ANKRD17, ANKRD50, ANTXR2, ANXA10, ANXA5, APBB2, ARAP2, ARHGAP24, ARHGEF38, ASIC5, ATP10D, BANK1, BBS12, BDH2, BMP3, C4orf17, C4orf19, C4orf21, C4orf22, C4orf27, C4orf33, C4orf36, C4orf45, C4orf47, CABS1, CBR4, CCDC109B, CCDC110, CCDC158, CCNA2, CCSER1, CENPC, CENPU, CFI, CHRNA9, CLCN3, CLDN24, CLNK, CLRN2, COL25A1, COQ2, CORIN, COX18, CPEB2, CPZ, CRMP1, CSN1S1, CWH43, CXCL1, CXCL5, CYP4V2, CYTL1, DCHS2, DCLK2, DCTD, DDX60L, DGKQ, DKK2, DMP1, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, ELF2, ENAM, ENPEP, ENPP6, EPHA5, ETFDH, ETNPPL, EVC, EVC2, EXOC1, FABP2, FAM114A1, FAM13A, FAM149A, FAM160A1, FAM175A, FAM184B, FAM198B, FAM47E, FAT1, FAT4, FGB, FGFBP1, FGFBP2, FGFR3, FGFRL1, FNIP2, FRAS1, FREM3, FRG1, FRYL, FSTL5, GABRA4, GABRB1, GAK, GALNTL6, GAR1, GBA3, GC, GK2, GLRA3, GLRB, GPR125, GRIA2, GRID2, GRK4, GRXCR1, GSX2, GUCY1A3, GYPE, HADH, HAUS3, HELQ, HERC3, HERC5, HERC6, HGFAC, HPGD, HPSE, HSD17B11, HSPA4L, HTT, IBSP, IDUA, IL2, IL21, ING2, INPP4B, INTU, IRF2, KDR, KIAA0922, KIAA1109, KIAA1211, KIAA1239, KIAA1430, KLB, KLHL2, KLKB1, LARP1B, LARP7, LCORL, LETM1, LGI2, LIN54, LPHN3, LRIT3, LRPAP1, LYAR, MAML3, MAN2B2, MANBA, MAP9, MSANTD1, MTTP, MUC7, MXD4, NAAA, NAF1, NAP1L5, NCAPG, NDNF, NDST3, NEIL3, NEK1, NEUROG2, NFKB1, NFXL1, NKX3-2, NOA1, NOP14, NPNT, NPY2R, NPY5R, NR3C2, OTOP1, PAPSS1, PARM1, PCDH18, PDE5A, PDE6B, PDGFRA, PDLIM3, PDLIM5, PI4K2B, PLK4, POLN, POLR2B, POU4F2, PPARGC1A, PPAT, PPEF2, PPID, PPP2R2C, PRDM5, PRDM8, PRIMPOL, PROL1, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, PYURF, RASSF6, RBM46, RBM47, RBPJ, RGS12, RNF175, RNF212, RP11-503N18.3, RPL9, S100P, SCD5, SCFD2, SCLT1, SDAD1, SEC24B, SEC24D, SEC31A, SEPSECS, SFRP2, SH3BP2, SH3RF1, SH3TC1, SHISA3, SHROOM3, SLBP, SLC10A6, SLC25A31, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC4A4, SLC7A11, SLC9B1, SMARCA5, SMARCAD1, SMR3A, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SPATA18, SPATA4, SPOCK3, SPON2, SPP1, SRP72, STAP1, STIM2, STPG2, SYNPO2, TACC3, TBC1D1, TBC1D19, TBC1D9, TBCK, TEC, TENM3, TET2, THAP9, TIFA, TIGD4, TKTL2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMEM155, TMEM156, TMEM175, TMPRSS11A, TMPRSS11B, TMPRSS11BNL, TMPRSS11E, TMPRSS11F, TNIP2, TNIP3, TRAPPC11, TRIM2, TRIML1, TRIML2, TRMT44, TRPC3, TXK, UGT2A1, UGT2A3, UGT2B11, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP38, UVSSA, VEGFC, WDFY3, WDR1, WDR17, WDR19, WFS1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF732,

+ Genes associated with diseases 90

Genes at Omim

ADAMTS3, ADD1, ADH1B, ADH1C, AFP, AGA, ALB, AMBN, AMTN, ANTXR2, ANXA5, BBS12, CFI, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DRD5, DSPP, EDNRA, EGF, ENAM, ETFDH, EVC, EVC2, FAT4, FGB, FGFR3, FRAS1, GABRB1, GLRB, GRID2, GRXCR1, GUCY1A3, HPGD, HTT, IDUA, IL21, INTU, KDR, KIAA1109, KLKB1, LARP7, LRIT3, LRPAP1, MANBA, MTTP, MUC7, NEK1, NFKB1, NKX3-2, NR3C2, PDE6B, PDGFRA, PLK4, PRDM5, PRDM8, PRSS12, RBPJ, RNF212, SEC24D, SEPSECS, SH3BP2, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC4A4, SMARCAD1, SOD3, SRP72, TBCK, TEC, TENM3, TET2, TLL1, TLR1, TLR2, TLR3, TRAPPC11, TRIM2, TRPC3, UGT2B17, UVSSA, VEGFC, WDFY3, WDR19, WFS1,
ADAMTS3 ?Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3)
ADD1 {Hypertension, essential, salt-sensitive}, 145500 (3)
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AFP Alpha-fetoprotein deficiency, 615969 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
AGA Aspartylglucosaminuria, 208400 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
AMBN Amelogenesis imperfecta, type IF, 616270 (3)
AMTN ?Amelogenesis imperfecta, type IIIB, 617607 (3)
ANTXR2 Hyaline fibromatosis syndrome, 228600 (3)
ANXA5 {Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3)
BBS12 Bardet-Biedl syndrome 12, 615989 (3)
CFI {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
Complement factor I deficiency, 610984 (3)
COL25A1 Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CORIN Preeclampsia/eclampsia 5, 614595 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
DMP1 Hypophosphatemic rickets, AR, 241520 (3)
DOK7 ?Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
DRD5 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
{Blepharospasm, primary benign}, 606798 (3)
DSPP Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)
Dentin dysplasia, type II, 125420 (3)
Dentinogenesis imperfecta, Shields type II, 125490 (3)
Dentinogenesis imperfecta, Shields type III, 125500 (3)
EDNRA {Migraine, resistance to}, 157300 (3)
Mandibulofacial dysostosis with alopecia, 616367 (3)
EGF Hypomagnesemia 4, renal, 611718 (3)
ENAM Amelogenesis imperfecta, type IB, 104500 (3)
Amelogenesis imperfecta, type IC, 204650 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
EVC Ellis-van Creveld syndrome, 225500 (3)
?Weyers acrofacial dysostosis, 193530 (3)
EVC2 Ellis-van Creveld syndrome, 225500 (3)
Weyers acrofacial dysostosis, 193530 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
FGB Afibrinogenemia, congenital, 202400 (3)
Hypofibrinogenemia, congenital, 202400 (3)
Dysfibrinogenemia, congenital, 616004 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FRAS1 Fraser syndrome 1, 219000 (3)
GABRB1 Epileptic encephalopathy, early infantile, 45, 617153 (3)
GLRB Hyperekplexia 2, 614619 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
GRXCR1 Deafness, autosomal recessive 25, 613285 (3)
GUCY1A3 Moyamoya 6 with achalasia, 615750 (3)
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3)
Cranioosteoarthropathy, 259100 (3)
Digital clubbing, isolated congenital, 119900 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
IL21 ?Immunodeficiency, common variable, 11, 615767 (3)
INTU ?Orofaciodigital syndrome XVII, 617926 (3)
?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3)
KDR {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
KIAA1109 Alkuraya-Kucinskas syndrome, 617822 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
LARP7 Alazami syndrome, 615071 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
MANBA Mannosidosis, beta, 248510 (3)
MTTP Abetalipoproteinemia, 200100 (3)
{Metabolic syndrome, protection against}, 605552 (3)
MUC7 {Asthma, protection against}, 600807 (3)
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3)
NFKB1 Immunodeficiency, common variable, 12, 616576 (3)
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Retinitis pigmentosa-40, 613801 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PRDM8 ?Epilepsy, progressive myoclonic, 10, 616640 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
RBPJ Adams-Oliver syndrome 3, 614814 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SEC24D Cole-Carpenter syndrome 2, 616294 (3)
SEPSECS Pontocerebellar hypoplasia type 2D, 613811 (3)
SH3BP2 Cherubism, 118400 (3)
SLC26A1 ?Nephrolithiasis, calcium oxalate, 167030 (3)
SLC2A9 Hypouricemia, renal, 2, 612076 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC30A9 ?Birk-Landau-Perez syndrome, 617595 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)
SOD3 [Superoxide dismutase, elevated extracellular] (3)
SRP72 Bone marrow failure syndrome 1, 614675 (3)
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
TEC Transient erythroblastopenia of childhood (2)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TLL1 Atrial septal defect 6, 613087 (3)
TLR1 {Leprosy, protection against}, 613223 (3)
{Leprosy, susceptibility to, 5}, 613223 (3)
TLR2 {Leprosy, susceptibility to}, 246300 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3)
TRIM2 Charcot-Marie-Tooth disease, type 2R, 615490 (3)
TRPC3 ?Spinocerebellar ataxia 41, 616410 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
VEGFC Lymphatic malformation 4, 615907 (3)
WDFY3 ?Microcephaly 18, primary, autosomal dominant, 617520 (3)
WDR19 Nephronophthisis 13, 614377 (3)
?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Senior-Loken syndrome 8, 616307 (3)
WFS1 Deafness, autosomal dominant 6/14/38, 600965 (3)
?Cataract 41, 116400 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)

Genes at Clinical Genomics Database

AFP, AGA, ALB, AMBN, ANTXR2, BBS12, CFI, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EDNRA, EGF, ENAM, ETFDH, EVC, EVC2, FAT4, FGB, FGFR3, FRAS1, GLRB, GRID2, GRXCR1, GUCY1A3, HADH, HPGD, HTT, IDUA, IL21, KLKB1, LARP7, LRIT3, LRPAP1, MANBA, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, PDE6B, PDGFRA, PLK4, PRDM5, PRDM8, PRIMPOL, PRSS12, RBPJ, SEPSECS, SH3BP2, SLC2A9, SLC34A2, SLC4A4, SMARCAD1, SRP72, TENM3, TLL1, TLR3, TRAPPC11, TRIM2, TRPC3, UVSSA, VEGFC, WDR19, WFS1,
AFP AFP deficiency, congenital
Hereditary persistence of AFP
AGA Aspartylglucosaminuria
ALB Dysalbuminemic hyperthyroxinemia
Analbuminemia
AMBN Amelogenesis imperfecta type IF
ANTXR2 Hyalinosis, infantile systemic
Fibromatosis, juveline hyaline
BBS12 Bardet-Biedl syndrome 12
CFI Hemolytic uremic syndrome, atypical
Complement factor I deficiency
COL25A1 Fibrosis of extraocular muscles, congenital 5
COQ2 Coenzyme Q10 deficiency 1
CORIN Preeclampsia/eclampsia 5
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
DMP1 Hypophosphatemic rickets, autosomal recessive 1
DOK7 Myasthenic syndrome, congenital 10
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
EDNRA Mandibulofacial dysostosis with alopecia
EGF Hypomagnesemia 4, renal
ENAM Amelogenesis imperfecta, type IB
Amelogenesis imperfecta, type IC
ETFDH Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
EVC Ellis-van Creveld syndrome
Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome
Weyers acrodental dysostosis
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
FGB Afibrinogenemia, congenital
Dysfibrinogenemia, congenital
Hypodysfibrinogenemia, congenital
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FRAS1 Fraser syndrome
GLRB Hyperekplexia 2
GRID2 Spinocerebellar ataxia, autosomal recessive 18
GRXCR1 Deafness, autosomal recessive 25
GUCY1A3 Moyamoya disease 6 with achalasia
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1
Cranioosteoarthropathy
Digital clubbing, isolated congenital
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IL21 Immunodeficiency, common variable, 11
KLKB1 Prekallikrein deficiency
LARP7 Alazami syndrome
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
LRPAP1 Myopia 23, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MTTP Abetalipoproteinemia
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
NR3C2 Pseudohypoaldosteronism type I, autosomal dominant
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
PDE6B Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
PDGFRA Gastrointestinal stromal tumor
PLK4 Microcephaly and chorioretinopathy, autosomal recessive 2
PRDM5 Brittle cornea syndrome 2
PRDM8 Epilepsy, progressive myoclonic, 10
PRIMPOL Myopia 22, autosomal dominant
PRSS12 Mental retardation, autosomal recessive 1
RBPJ Adams-Oliver syndrome 3
SEPSECS Pontocerebellar hypoplasia, type 2D
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
SMARCAD1 Adermatoglyphia
SRP72 Bone marrow failure syndrome 1
TENM3 Microphthalmia, isolated, with coloboma 9
TLL1 Atrial septal defect 6
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
TRPC3 Spinocerebellar ataxia 41
UVSSA UV-sensitive syndrome 3
VEGFC Lymphedema, hereditary, ID
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8
WFS1 Wolfram syndrome

Genes at HGMD

Summary

Number of Variants: 1447
Number of Genes: 341

Export to: CSV
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 fam3 AWJ 4 rs34859791
dbSNP Clinvar 		1737404 548.28 C CC... PASS 2/2 38 None None None 0.70048 0.70050 None None None None None None TACC3|0.001560667|92.5%

MAP9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs3733390
dbSNP Clinvar 		156289900 353.35 C T,CT PASS 2/1 52 FRAME_SHIFT HIGH None 0.36901 0.36900 0.27603 None None None None None None MAP9|0.029230884|69.75%

GYPE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs1132785
dbSNP Clinvar 		144801662 3093.56 C G,T PASS 1/2 295 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.30891 0.30890 1.00 0.00 None None None None None None GYPE|0.000492079|98.47%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs10006580
dbSNP Clinvar 		138449812 924.29 C A,G PASS 1/2 87 None None None 0.55252 0.55250 0.46517 None None None None None None PCDH18|0.125724219|46.53%

C4orf45
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 . 159894304 689.23 CT C,CC PASS 1/2 59 FRAME_SHIFT HIGH None None None None None None None C4orf45|0.003496909|87.79%

HSD17B11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 . 88258477 246.66 AT... AT... PASS 1/2 48 FRAME_SHIFT HIGH None None None None None None None HSD17B11|0.055099771|61.16%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs7663440
dbSNP Clinvar 		122137662 1450.61 T A,G PASS 1/2 156 None None None 0.87800 0.87800 None None None None None None TNIP3|0.011682267|79.46%

SEPSECS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs767645681
dbSNP Clinvar 		25160570 674.17 G A,GA PASS 1/2 80 None None None None None None None None None SEPSECS|0.215978435|34.9%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs141260260,rs59269603
dbSNP Clinvar 		122735225 138.83 C CTTA PASS 1/1 13 None None None 0.22419 None None None None None None EXOSC9|0.551642967|13.65%

HSPA4L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs1380154
dbSNP Clinvar 		128723042 161.57 T C PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.74521 0.74520 0.28633 1.00 0.00 None None None None None None HSPA4L|0.196148779|37.15%

PLK4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs3811740
dbSNP Clinvar 		128807219 378.63 T A PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.74221 0.74220 0.28748 1.00 0.00 None None None None None None PLK4|0.362623785|23.24%
View fam3 AWJ 4 rs17012739
dbSNP Clinvar 		128814964 673.07 G T PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.74241 0.74240 0.28725 0.75 0.00 None None None None None None PLK4|0.362623785|23.24%

LARP1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2306054
dbSNP Clinvar 		129012181 652.03 G A PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.63838 0.63840 0.34784 None None None None None None LARP1B|0.099185748|51.34%
View fam3 AWJ 4 rs1064205
dbSNP Clinvar 		129012638 638.63 A G PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.63798 0.63800 0.34769 None None None None None None LARP1B|0.099185748|51.34%
View fam3 AWJ 4 rs12508837
dbSNP Clinvar 		129043204 1743.21 C G PASS 1/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.59026 0.59030 0.40597 0.00 0.93 None None None None None None LARP1B|0.099185748|51.34%
View fam3 AWJ 4 rs3733320
dbSNP Clinvar 		129043286 1055.49 C T PASS 1/1 112 SYNONYMOUS_CODING LOW None 0.59086 0.59090 0.40589 None None None None None None LARP1B|0.099185748|51.34%
View fam3 AWJ 4 rs12645577
dbSNP Clinvar 		129100643 953.19 G A PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.56949 0.56950 0.42296 1.00 0.00 None None None None None None LARP1B|0.099185748|51.34%

SCLT1
Omim - GeneCards - NCBI
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 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs10028124
dbSNP Clinvar 		129867280 435.33 T A PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.76018 0.76020 0.25746 0.12 0.79 None None None None None None SCLT1|0.102346634|50.73%

SOD3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2536512
dbSNP Clinvar 		24801315 855.49 G A PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.40056 0.40060 0.47343 1.00 0.01 None None None None None None SOD3|0.025552967|71.53%

SLC34A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs6448389
dbSNP Clinvar 		25678199 1074.48 A G PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.91074 0.91070 0.12402 1.00 0.00 None None None None None None SLC34A2|0.026885806|70.96%

RBPJ
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2270226
dbSNP Clinvar 		26417136 384.75 T C PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.51178 0.51180 0.49746 None None None None None None RBPJ|0.997809016|0.58%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs946346
dbSNP Clinvar 		26431386 1046.67 A G PASS 1/1 111 None None None 0.92572 0.92570 None None None None None None RBPJ|0.997809016|0.58%

STIM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs10028164
dbSNP Clinvar 		27004011 1048.16 G A PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.97764 0.97760 0.02653 None None None None None None STIM2|0.222203116|34.17%

ARAP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs4833069
dbSNP Clinvar 		36081878 604.09 C T PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.99521 0.99520 0.00746 0.80 0.00 None None None None None None ARAP2|0.117132933|47.92%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2973217
dbSNP Clinvar 		37432416 1606.31 A C PASS 1/1 170 None None None 0.44169 0.44170 0.45160 None None None None None None NWD2|0.232539002|33.16%

TLR10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs11096955
dbSNP Clinvar 		38776107 339.21 T G PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.49960 0.49960 0.39851 0.31 0.00 None None None None None None TLR10|0.045687596|63.98%
View fam3 AWJ 4 rs11466652
dbSNP Clinvar 		38776303 704.88 T C PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.20148 0.20150 0.18863 None None None None None None TLR10|0.045687596|63.98%
View fam3 AWJ 4 rs11096957
dbSNP Clinvar 		38776491 978.46 T G PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.50000 0.50000 0.39843 0.00 0.73 None None None None None None TLR10|0.045687596|63.98%
View fam3 AWJ 4 rs10856838
dbSNP Clinvar 		38777173 1491.09 A T PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.33087 0.33090 0.26534 None None None None None None TLR10|0.045687596|63.98%

TLR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs5743611
dbSNP Clinvar 		38800214 963.22 C G PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.02256 0.02256 0.06482 0.05 0.11 None None None None None None TLR1|0.255603252|31.06%

TLR6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs5743818
dbSNP Clinvar 		38829163 1099.49 A C PASS 1/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.08966 0.08966 0.20521 None None None None None None TLR1|0.255603252|31.06%,TLR6|0.030200205|69.32%
View fam3 AWJ 4 rs3775073
dbSNP Clinvar 		38829832 435.3 T C PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.45747 0.45750 0.44995 None None None None None None TLR1|0.255603252|31.06%,TLR6|0.030200205|69.32%
View fam3 AWJ 4 rs3821985
dbSNP Clinvar 		38830012 479.28 G C PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.44489 0.44490 0.44017 None None None None None None TLR1|0.255603252|31.06%,TLR6|0.030200205|69.32%
View fam3 AWJ 4 rs5743810
dbSNP Clinvar 		38830350 1784.95 A G PASS 1/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.88478 0.88480 0.30847 0.56 0.00 None None None None None None TLR1|0.255603252|31.06%,TLR6|0.030200205|69.32%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs73236661
dbSNP Clinvar 		38879655 951.9 C T PASS 1/1 92 None None None 0.20328 0.20330 0.28431 None None None None None None FAM114A1|0.052850511|61.81%

FAM114A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs11096964
dbSNP Clinvar 		38879949 1815.31 G A PASS 1/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.20328 0.20330 0.28671 0.14 0.04 None None None None None None FAM114A1|0.052850511|61.81%
View fam3 AWJ 4 rs11555334
dbSNP Clinvar 		38880046 1873.86 T C PASS 1/1 175 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.20288 0.20290 0.28199 0.32 0.00 None None None None None None FAM114A1|0.052850511|61.81%
View fam3 AWJ 4 rs2271031
dbSNP Clinvar 		38937372 548.75 T C PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.72444 0.72440 0.32136 None None None None None None FAM114A1|0.052850511|61.81%

TMEM156
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs10212770
dbSNP Clinvar 		38995374 1037.47 T C PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.92652 0.92650 0.11279 None None None None None None TMEM156|0.013336926|78.29%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs1451817
dbSNP Clinvar 		39205365 953.27 C T PASS 1/1 80 None None None 0.96446 0.96450 0.02979 None None None None None None WDR19|0.167993479|40.57%

WDR19
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2167494
dbSNP Clinvar 		39216221 615.77 C T PASS 1/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25978 0.25980 0.30398 None None None None None None WDR19|0.167993479|40.57%
View fam3 AWJ 4 rs75964850
dbSNP Clinvar 		39216240 639.75 G A PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.03095 0.03095 0.04231 0.06 0.04 None None None None None None WDR19|0.167993479|40.57%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs11730558
dbSNP Clinvar 		39229771 546.05 G A PASS 1/1 60 None None None 0.28255 0.28250 None None None None None None WDR19|0.167993479|40.57%
View fam3 AWJ 4 rs11096989,rs397786375
dbSNP Clinvar 		39276623 1160.77 A AG PASS 1/1 126 None None None 0.49082 0.49080 0.47695 None None None None None None WDR19|0.167993479|40.57%
View fam3 AWJ 4 rs12648082
dbSNP Clinvar 		39279724 158.92 T C PASS 1/1 15 None None None 0.48942 0.48940 0.47470 None None None None None None WDR19|0.167993479|40.57%
View fam3 AWJ 4 rs2066790
dbSNP Clinvar 		39318706 243.16 A G PASS 1/1 24 None None None 0.28115 0.28120 None None None None None None RFC1|0.459631964|17.7%
View fam3 AWJ 4 rs11096992
dbSNP Clinvar 		39329102 593.89 G A PASS 1/1 53 None None None 0.42452 0.42450 0.46969 None None None None None None RFC1|0.459631964|17.7%
View fam3 AWJ 4 rs4975007
dbSNP Clinvar 		39353122 457.18 C T PASS 1/1 51 None None None 0.97324 0.97320 0.02448 None None None None None None RFC1|0.459631964|17.7%

KLB
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs17618244
dbSNP Clinvar 		39448529 733.07 G A PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.15375 0.15380 0.14973 0.18 0.02 None None None None None None KLB|0.053916364|61.49%
View fam3 AWJ 4 rs7685429
dbSNP Clinvar 		39448542 711.08 C G PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.76518 0.76520 0.24938 None None None None None None KLB|0.053916364|61.49%

RPL9
Omim - GeneCards - NCBI
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 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2125313
dbSNP Clinvar 		39458051 1012.54 A G PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.69289 0.69290 0.35038 None None None None None None RPL9|0.545854423|13.95%

RBM47
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2307046
dbSNP Clinvar 		40438576 2000.07 A G PASS 1/1 205 SYNONYMOUS_CODING LOW None 0.80511 0.80510 0.16318 None None None None None None RBM47|0.350225343|24.09%
View fam3 AWJ 4 rs2291580
dbSNP Clinvar 		40440215 2412.02 T C PASS 1/1 252 SYNONYMOUS_CODING LOW None 0.70248 0.70250 0.27495 None None None None None None RBM47|0.350225343|24.09%
View fam3 AWJ 4 rs1052153
dbSNP Clinvar 		40440854 1427.8 G C PASS 1/1 152 SYNONYMOUS_CODING LOW None 0.80192 0.80190 0.16221 None None None None None None RBM47|0.350225343|24.09%

APBB2
Omim - GeneCards - NCBI
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 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs4861358
dbSNP Clinvar 		41015899 1523.81 C T PASS 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.67412 0.67410 0.34970 0.65 0.00 None None None None None None APBB2|0.401070014|20.7%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs13146318
dbSNP Clinvar 		41615690 1099.38 T A PASS 1/1 80 None None None 0.49760 0.49760 0.46040 None None None None None None LIMCH1|0.286653566|28.58%
View fam3 AWJ 4 rs2304647
dbSNP Clinvar 		41646651 2421.85 G C PASS 1/1 219 None None None 0.48822 0.48820 0.46448 None None None None None None LIMCH1|0.286653566|28.58%

SLC30A9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2581423
dbSNP Clinvar 		42020142 423.69 A G PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.97943 0.97940 0.02410 1.00 0.00 None None None None None None SLC30A9|0.494428904|16.11%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs10213360
dbSNP Clinvar 		42965159 1049.53 A C PASS 1/1 98 None None None 0.85503 0.85500 0.17482 None None None None None None GRXCR1|0.227142319|33.66%

YIPF7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs60959366
dbSNP Clinvar 		44626641 568.24 A G PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.55192 0.55190 0.44709 None None None None None None YIPF7|0.058648269|60.23%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs6813809
dbSNP Clinvar 		44631587 481.19 A G PASS 1/1 53 None None None 0.46765 0.46770 0.37227 None None None None None None YIPF7|0.058648269|60.23%
View fam3 AWJ 4 rs1347902
dbSNP Clinvar 		44637736 1585.45 T C PASS 1/1 165 None None None 0.97504 0.97500 None None None None None None YIPF7|0.058648269|60.23%
View fam3 AWJ 4 rs13117025
dbSNP Clinvar 		44684455 195.16 C T PASS 1/1 17 None None None 0.95627 0.95630 0.03754 None None None None None None GUF1|0.36534877|23.03%,GNPDA2|0.439714436|18.67%

GABRB1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs4482737
dbSNP Clinvar 		47322190 640.0 T C PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.96965 0.96960 0.03844 None None None None None None GABRB1|0.572974725|12.87%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2351791
dbSNP Clinvar 		47582387 531.51 A C PASS 1/1 31 None None None 0.74161 0.74160 0.23981 None None None None None None ATP10D|0.06998296|57.49%

CORIN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs11934749
dbSNP Clinvar 		47667064 1987.13 T C PASS 1/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.91094 0.91090 0.10941 1.00 0.00 None None None None None None CORIN|0.070281141|57.43%
View fam3 AWJ 4 rs10517195
dbSNP Clinvar 		47682174 869.83 A G PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.37101 0.37100 0.49439 None None None None None None CORIN|0.070281141|57.43%

CENPC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs11250
dbSNP Clinvar 		68380215 1625.76 G A PASS 1/1 170 NON_SYNONYMOUS_CODING MODERATE None 0.70068 0.70070 0.38824 0.19 0.27 None None None None None None CENPC|0.0414428|65.32%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs906486
dbSNP Clinvar 		48073501 1158.44 G T PASS 1/1 90 None None None 0.83846 0.83850 0.16931 None None None None None None TXK|0.28744508|28.55%
View fam3 AWJ 4 rs2661547
dbSNP Clinvar 		48147612 1845.13 T G PASS 1/1 191 None None None 0.82448 0.82450 0.19330 None None None None None None TEC|0.720083632|7.97%
View fam3 AWJ 4 rs1466631
dbSNP Clinvar 		48372085 584.13 T G PASS 1/1 43 None None None 0.82907 0.82910 None None None None None None SLAIN2|0.33032216|25.47%
View fam3 AWJ 4 rs28558226
dbSNP Clinvar 		48577121 1024.72 C T PASS 1/1 107 None None None 0.98263 0.98260 0.01584 None None None None None None FRYL|0.342095381|24.68%
View fam3 AWJ 4 rs3107023
dbSNP Clinvar 		48584405 664.4 T C PASS 1/1 69 None None None 0.94728 0.94730 None None None None None None FRYL|0.342095381|24.68%
View fam3 AWJ 4 rs2940319
dbSNP Clinvar 		48607938 519.78 T C PASS 1/1 55 None None None 0.98303 0.98300 None None None None None None FRYL|0.342095381|24.68%
View fam3 AWJ 4 rs10000598
dbSNP Clinvar 		69810923 1035.48 A C PASS 1/1 110 None None None 0.02915 0.64700 None None None None None None UGT2A3|0.001694457|91.92%

GSX2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs3194383
dbSNP Clinvar 		54966667 1013.55 C T PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.60024 0.60020 0.47900 None None None None None None FIP1L1|0.803179019|5.74%,GSX2|0.289811416|28.36%
View fam3 AWJ 4 rs13144341
dbSNP Clinvar 		54966830 1061.51 G A PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.99421 0.99420 0.00503 1.00 0.00 None None None None None None FIP1L1|0.803179019|5.74%,GSX2|0.289811416|28.36%
Omim - GeneCards - NCBI
Options Individual Chr
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs6554148
dbSNP Clinvar 		54967214 1205.08 C T PASS 1/1 112 None None None 0.77875 0.77880 None None None None None None FIP1L1|0.803179019|5.74%,GSX2|0.289811416|28.36%

PDGFRA
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs1873778
dbSNP Clinvar 		55141055 1108.9 A G PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.95767 0.95770 0.04114 None None None None None None FIP1L1|0.803179019|5.74%,PDGFRA|0.732814816|7.55%
Omim - GeneCards - NCBI
Options Individual Chr
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 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs4864506
dbSNP Clinvar 		55156380 764.72 G A PASS 1/1 79 None None None 0.95627 0.95630 None None None None None None FIP1L1|0.803179019|5.74%,PDGFRA|0.732814816|7.55%
View fam3 AWJ 4 rs2276948
dbSNP Clinvar 		55156400 796.93 A G PASS 1/1 84 None None None 0.70028 0.70030 None None None None None None FIP1L1|0.803179019|5.74%,PDGFRA|0.732814816|7.55%
View fam3 AWJ 4 rs3733540
dbSNP Clinvar 		55161254 1024.57 C T PASS 1/1 107 None None None 0.69908 0.69910 0.26419 None None None None None None FIP1L1|0.803179019|5.74%,PDGFRA|0.732814816|7.55%

PDGFRA
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs7685117
dbSNP Clinvar 		55161391 1348.71 T C PASS 1/1 138 SYNONYMOUS_CODING LOW None 0.99720 0.99720 0.00323 None None None None None None FIP1L1|0.803179019|5.74%,PDGFRA|0.732814816|7.55%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs4421048
dbSNP Clinvar 		55946081 1409.47 A G PASS 1/1 115 None None None 0.99281 0.99280 0.00800 None None None None None None KDR|0.951226696|2.22%
View fam3 AWJ 4 rs2412617
dbSNP Clinvar 		55948108 786.47 A G PASS 1/1 72 None None None 0.99681 0.99680 0.00238 None None None None None None KDR|0.951226696|2.22%
View fam3 AWJ 4 rs6554344
dbSNP Clinvar 		57179649 615.95 A T PASS 1/1 65 None None None 0.82149 0.82150 None None None None None None KIAA1211|0.006705951|83.84%

KIAA1211
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs7672073
dbSNP Clinvar 		57181632 887.64 G C PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.98702 0.98700 0.01631 0.96 0.00 None None None None None None KIAA1211|0.006705951|83.84%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2292985
dbSNP Clinvar 		57189498 727.83 G A PASS 1/1 77 None None None 0.55052 0.55050 0.45002 None None None None None None KIAA1211|0.006705951|83.84%

AASDH
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs6554348
dbSNP Clinvar 		57219592 401.89 G A PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.64577 0.64580 0.37152 None None None None None None AASDH|0.054593955|61.31%

NOA1
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs4865167
dbSNP Clinvar 		57843320 700.71 A G PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.99980 0.99980 None None None None None None NOA1|0.040203469|65.71%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs3755906
dbSNP Clinvar 		57906986 1043.71 A T PASS 1/1 110 None None None 0.30551 0.30550 0.35737 None None None None None None IGFBP7|0.178308209|39.24%

LPHN3
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs10434219
dbSNP Clinvar 		62598689 3424.34 C T PASS 1/1 359 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.31456 None None None None None None ADGRL3|0.887869356|3.75%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs9312082
dbSNP Clinvar 		62599289 878.37 G A PASS 1/1 95 None None None 0.78994 0.78990 0.31771 None None None None None None ADGRL3|0.887869356|3.75%
View fam3 AWJ 4 rs2305339
dbSNP Clinvar 		62800554 1698.48 G A PASS 1/1 177 None None None 0.66953 0.66950 0.23471 None None None None None None ADGRL3|0.887869356|3.75%

LPHN3
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs734644
dbSNP Clinvar 		62800728 1634.44 T C PASS 1/1 166 SYNONYMOUS_CODING LOW None 0.67991 0.67990 0.23498 None None None None None None ADGRL3|0.887869356|3.75%
View fam3 AWJ 4 rs1397547
dbSNP Clinvar 		62845388 737.2 G C PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.81629 0.81630 0.13132 None None None None None None ADGRL3|0.887869356|3.75%
View fam3 AWJ 4 rs1397548
dbSNP Clinvar 		62845490 677.13 A G PASS 1/1 70 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49940 0.49940 0.35237 None None None None None None ADGRL3|0.887869356|3.75%
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs10012755
dbSNP Clinvar 		65146700 351.11 A G PASS 1/1 28 None None None 0.84864 0.84860 0.14903 None None None None None None TECRL|0.190099811|37.79%
View fam3 AWJ 4 rs1483709
dbSNP Clinvar 		65146711 363.27 T C PASS 1/1 27 None None None 0.97025 0.97020 0.03514 None None None None None None TECRL|0.190099811|37.79%
View fam3 AWJ 4 rs11935568
dbSNP Clinvar 		65165661 435.0 G A PASS 1/1 34 None None None 0.92532 0.92530 0.08398 None None None None None None TECRL|0.190099811|37.79%