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+ Genes 266

Genes:
AADAT, ABCG2, ABLIM2, AC021860.1, AC093677.1, ADAD1, ADH1B, ADH1C, ADH4, ADH7, ADRA2C, AFAP1, AFP, AGA, AIMP1, ALB, ANKRD17, ANKRD50, ANTXR2, ARAP2, ARHGAP24, ATP10D, BANK1, BMP2K, BTC, C4orf33, C4orf50, CAMK2D, CCDC149, CCNA2, CEP135, CFI, CHRNA9, CLCN3, CLDN22, CLDN24, CLNK, CNGA1, COL25A1, COQ2, CORIN, CPZ, CRIPAK, CRMP1, CWH43, CXCL11, CXCL5, CYP4V2, CYTL1, DCHS2, DCUN1D4, DDIT4L, DDX60, DDX60L, DKK2, DMP1, DOK7, DRD5, DSPP, DTHD1, DUX4L4, EDNRA, EGF, EPHA5, ETFDH, EVC, EVC2, EXOSC9, FABP2, FAM149A, FAM184B, FAM193A, FAM47E, FAM53A, FAT1, FAT4, FGA, FGB, FGFBP1, FGFR3, FGFRL1, FHDC1, FIP1L1, FNIP2, FRAS1, FREM3, FRG1, GAK, GALNT7, GBA3, GC, GLRB, GPR125, GPRIN3, GRK4, GRSF1, GRXCR1, GSTCD, GSX2, GYPA, GYPB, GYPE, HADH, HAND2, HELQ, HERC3, HGFAC, HMX1, HNRNPDL, HSPA4L, HTRA3, HTT, IBSP, IDUA, IL2, IL21, ING2, INTS12, IRF2, KIAA0232, KIAA1109, KIAA1239, KIAA1430, KLB, KLHL8, KLKB1, LAP3, LARP1B, LDB2, LETM1, LGI2, LIMCH1, LIN54, LPHN3, LRBA, LRIT3, LRPAP1, LYAR, MAD2L1, MAML3, MAN2B2, MANBA, MFSD7, MMAA, MRFAP1L1, MSANTD1, MSX1, MTNR1A, MTTP, MUC7, NAA11, NAAA, NAP1L5, NCAPG, NDNF, NDST4, NEIL3, NEK1, NELFA, NEUROG2, NFKB1, NKX3-2, NOA1, NSG1, NSUN7, NUDT6, OCIAD1, OTOP1, PABPC4L, PAICS, PALLD, PCDH7, PCGF3, PDE5A, PDE6B, PDGFC, PDGFRA, PDLIM3, PDLIM5, PIGG, PITX2, PLK4, POLN, PPARGC1A, PPAT, PPID, PRSS12, PRSS48, PSAPL1, PTPN13, RAB28, RBM47, RBPJ, RGS12, RNF212, RP11-503N18.3, RP11-62N21.1, RP11-763F8.1, RP11-766F14.2, S100P, SCLT1, SH3BP2, SH3TC1, SHROOM3, SLBP, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SLC7A11, SLIT2, SMARCAD1, SNX25, SOD3, SORBS2, SPARCL1, SPP1, SPRY1, SRP72, STIM2, STOX2, SYNPO2, TACC3, TADA2B, TAPT1, TBC1D1, TBC1D19, TENM3, TET2, TLL1, TLR2, TLR3, TLR6, TMEM129, TMEM144, TMEM175, TMPRSS11A, TMPRSS11D, TNIP2, TRMT10A, TRMT44, TRPC3, TXK, UBA6, UCHL1, UFSP2, UGT2A1, UGT2A3, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UNC5C, UTP3, UVSSA, WDFY3, WDR19, WFS1, WHSC1, ZNF518B, ZNF595, ZNF827,

+ Genes associated with diseases 88

Genes at Omim

ABCG2, ADH1B, ADH1C, ADRA2C, AFP, AGA, AIMP1, ALB, ANTXR2, CEP135, CFI, CNGA1, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DRD5, DSPP, EDNRA, EGF, ETFDH, EVC, EVC2, EXOSC9, FAT4, FGA, FGB, FGFR3, FRAS1, GLRB, GRXCR1, GYPA, GYPB, HMX1, HNRNPDL, HTT, IDUA, IL21, KIAA1109, KLKB1, LRBA, LRIT3, LRPAP1, MANBA, MMAA, MSX1, MTTP, MUC7, NEK1, NFKB1, NKX3-2, PALLD, PDE6B, PDGFRA, PIGG, PITX2, PLK4, PRSS12, RAB28, RBPJ, RNF212, SH3BP2, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SMARCAD1, SOD3, SRP72, TAPT1, TENM3, TET2, TLL1, TLR2, TLR3, TRMT10A, TRPC3, UCHL1, UFSP2, UGT2B17, UVSSA, WDFY3, WDR19, WFS1,
ABCG2 [Junior blood group system], 614490 (3)
[Uric acid concentration, serum, QTL1], 138900 (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)
ADRA2C {Congestive heart failure and beta-blocker response, modifier of} (3)
AFP Alpha-fetoprotein deficiency, 615969 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
AGA Aspartylglucosaminuria, 208400 (3)
AIMP1 Leukodystrophy, hypomyelinating, 3, 260600 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
ANTXR2 Hyaline fibromatosis syndrome, 228600 (3)
CEP135 Microcephaly 8, primary, autosomal recessive, 614673 (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)
CNGA1 Retinitis pigmentosa 49, 613756 (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)
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)
EXOSC9 Pontocerebellar hypoplasia, type 1D, 618065 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
FGA Afibrinogenemia, congenital, 202400 (3)
Amyloidosis, familial visceral, 105200 (3)
Hypodysfibrinogenemia, congenital, 616004 (3)
Dysfibrinogenemia, congenital, 616004 (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)
GLRB Hyperekplexia 2, 614619 (3)
GRXCR1 Deafness, autosomal recessive 25, 613285 (3)
GYPA {Malaria, resistance to}, 611162 (3)
[Blood group, MNSs system], 111300 (3)
GYPB {Malaria, resistance to}, 611162 (3)
[Blood group, Ss], 111740 (3)
HMX1 Oculoauricular syndrome, 612109 (3)
HNRNPDL Muscular dystrophy, limb-girdle, autosomal dominant 3, 609115 (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)
KIAA1109 Alkuraya-Kucinskas syndrome, 617822 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
LRBA Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
MANBA Mannosidosis, beta, 248510 (3)
MMAA Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
MSX1 Ectodermal dysplasia 3, Witkop type, 189500 (3)
Orofacial cleft 5, 608874 (3)
Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (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)
PALLD {Pancreatic cancer, susceptibility to, 1}, 606856 (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)
PIGG Mental retardation, autosomal recessive 53, 616917 (3)
PITX2 Anterior segment dysgenesis 4, 137600 (3)
Axenfeld-Rieger syndrome, type 1, 180500 (3)
Ring dermoid of cornea, 180550 (3)
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
RAB28 Cone-rod dystrophy 18, 615374 (3)
RBPJ Adams-Oliver syndrome 3, 614814 (3)
RNF212 Recombination rate QTL 1, 612042 (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)
SLC39A8 Congenital disorder of glycosylation, type IIn, 616721 (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)
TAPT1 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TLL1 Atrial septal defect 6, 613087 (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)
TRMT10A Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3)
TRPC3 ?Spinocerebellar ataxia 41, 616410 (3)
UCHL1 Spastic paraplegia 79, autosomal recessive, 615491 (3)
{?Parkinson disease 5, susceptibility to}, 613643 (3)
UFSP2 ?Hip dysplasia, Beukes type, 142669 (3)
?Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (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

ABCG2, ADRA2C, AFP, AGA, AIMP1, ALB, ANTXR2, CEP135, CFI, CNGA1, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EDNRA, EGF, ETFDH, EVC, EVC2, FAT4, FGA, FGB, FGFR3, FRAS1, GLRB, GRXCR1, GYPA, GYPB, HADH, HMX1, HNRNPDL, HTT, IDUA, IL21, KLKB1, LRBA, LRIT3, LRPAP1, MANBA, MMAA, MSX1, MTTP, NEK1, NFKB1, NKX3-2, PDE6B, PDGFRA, PIGG, PITX2, PLK4, PRSS12, RAB28, RBPJ, SH3BP2, SLC2A9, SLC34A2, SLC39A8, SLC4A4, SMARCAD1, SRP72, TENM3, TLL1, TLR3, TRMT10A, TRPC3, UCHL1, UFSP2, UVSSA, WDR19, WFS1,
ABCG2 Blood group, junior system
ADRA2C Beta-blocker response, association with
AFP AFP deficiency, congenital
Hereditary persistence of AFP
AGA Aspartylglucosaminuria
AIMP1 Leukodystrophy, hypomyelinating, 3
ALB Dysalbuminemic hyperthyroxinemia
Analbuminemia
ANTXR2 Hyalinosis, infantile systemic
Fibromatosis, juveline hyaline
CEP135 Microcephaly 8, primary, autosomal recessive
CFI Hemolytic uremic syndrome, atypical
Complement factor I deficiency
CNGA1 Retinitis pigmentosa 49
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
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
FGA Afibrinogenemia, congenital
Dysfibrinogenemia, congenital
Hypodysfibrinogenemia, congenital
Familial visceral amyloidosis
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
GRXCR1 Deafness, autosomal recessive 25
GYPA Blood group, MN locus
Blood group, Erik
GYPB Blood group, Ss
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HMX1 Oculoauricular syndrome
HNRNPDL Limb-girdle muscular dystrophy, type 1G
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IL21 Immunodeficiency, common variable, 11
KLKB1 Prekallikrein deficiency
LRBA Common variable immunodeficiency 8, with autoimmunity
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
LRPAP1 Myopia 23, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MMAA Methylmalonic acidemia, cblA type
MSX1 Orofacial cleft 5
Tooth agenesis, selective, 1, with/without orofacial cleft
Witkop syndrome
MTTP Abetalipoproteinemia
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
PDE6B Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
PDGFRA Gastrointestinal stromal tumor
PIGG Mental retardation, autosomal recessive 53
PITX2 Axenfeld-Rieger syndrome, type 1
Peters anomaly
Ring dermoid of cornea
Iridogoniodysgenesis, type 2
PLK4 Microcephaly and chorioretinopathy, autosomal recessive 2
PRSS12 Mental retardation, autosomal recessive 1
RAB28 Cone-rod dystrophy 18
RBPJ Adams-Oliver syndrome 3
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC39A8 Congenital disorder of glycosylation, type IIn
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
TRMT10A Microcephaly, short stature, and impaired glucose metabolism 1
TRPC3 Spinocerebellar ataxia 41
UCHL1 Parkinson disease 5, autosomal dominant
Neurodegeneration with optic atropy, childhood-onset
UFSP2 Hip dysplasia, Beukes type
UVSSA UV-sensitive syndrome 3
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: 1132
Number of Genes: 266

Export to: CSV

AADAT
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 16hpc01701_s1 genome 4 . 170989742 14.92 C A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 1.00 None None None None None None AADAT|0.035304516|67.4%

ABCG2
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 16hpc01701_s1 genome 4 rs2231137
dbSNP Clinvar 		89061114 1829.25 C T PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.15755 0.15750 0.04552 1.00 0.00 None None None None None None ABCG2|0.243518394|32.14%

ABLIM2
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 16hpc01701_s1 genome 4 . 7994631 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.00 None None None None None None ABLIM2|0.046835245|63.64%

AC021860.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 4 rs168086
dbSNP Clinvar 		38628540 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.78910 0.87 0.00 None None None None None None None

AC093677.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 4 . 75023839 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None MTHFD2L|0.173905555|39.79%
View 16hpc01701_s1 genome 4 rs2289443
dbSNP Clinvar 		75023709 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.69429 0.69430 0.00 None None None None None None MTHFD2L|0.173905555|39.79%

ADAD1
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 16hpc01701_s1 genome 4 . 123302326 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.12 None None None None None None ADAD1|0.376192951|22.3%

ADH1B
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 16hpc01701_s1 genome 4 rs1229984
dbSNP Clinvar 		100239319 1312.43 T C PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None ADH1B|0.074839204|56.32%
View 16hpc01701_s1 genome 4 rs1789882
dbSNP Clinvar 		100235053 4034.07 A G PASS 1/1 149 SYNONYMOUS_CODING LOW None 0.82967 0.82970 0.19151 None None None None None None ADH1B|0.074839204|56.32%

ADH1C
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 16hpc01701_s1 genome 4 rs1693482
dbSNP Clinvar 		100263965 1929.11 C T PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.21426 0.21430 0.30478 0.02 None None None None None None None
View 16hpc01701_s1 genome 4 rs283413
dbSNP Clinvar 		100268190 1753.4 A C PASS 1/1 64 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None
View 16hpc01701_s1 genome 4 rs1789915
dbSNP Clinvar 		100266371 1841.0 A G PASS 0/1 190 SYNONYMOUS_CODING LOW None 0.15016 0.15020 0.23396 None None None None None None None
View 16hpc01701_s1 genome 4 rs698
dbSNP Clinvar 		100260789 559.7 T C PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.21426 0.21430 0.30751 0.00 None None None None None None None
View 16hpc01701_s1 genome 4 rs1693425
dbSNP Clinvar 		100266112 1634.51 C T PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.21446 0.21450 0.30617 None None None None None None None

ADH4
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 16hpc01701_s1 genome 4 rs2032349
dbSNP Clinvar 		100062819 1275.64 A G PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.96406 0.96410 0.04121 None None None None None None ADH4|0.01057839|80.46%
View 16hpc01701_s1 genome 4 rs1126670
dbSNP Clinvar 		100052733 2059.18 C A PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26872 None None None None None None ADH4|0.01057839|80.46%
View 16hpc01701_s1 genome 4 rs200097356
dbSNP Clinvar 		100063925 2172.96 T C PASS 0/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.13 None None None None None None ADH4|0.01057839|80.46%
View 16hpc01701_s1 genome 4 rs1126673
dbSNP Clinvar 		100045616 1112.97 C T PASS 1/1 36 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None ADH4|0.01057839|80.46%
View 16hpc01701_s1 genome 4 rs1126671
dbSNP Clinvar 		100048414 2186.58 T C PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.84705 0.84700 0.26911 0.69 0.00 None None None None None None ADH4|0.01057839|80.46%

ADH7
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 16hpc01701_s1 genome 4 rs1573496
dbSNP Clinvar 		100349669 247.15 C G PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.03794 0.07919 0.01 0.40 None None None None None None ADH7|0.005793386|84.83%
View 16hpc01701_s1 genome 4 rs971074
dbSNP Clinvar 		100341861 1220.38 C T PASS 0/1 83 SYNONYMOUS_CODING LOW None 0.11981 0.11980 0.13755 None None None None None None ADH7|0.005793386|84.83%

ADRA2C
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 16hpc01701_s1 genome 4 rs185354316
dbSNP Clinvar 		3769329 199.72 G A SB 0/1 16 SYNONYMOUS_CODING LOW None 0.19609 0.19610 None None None None None None ADRA2C|0.032603753|68.35%

AFAP1
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 16hpc01701_s1 genome 4 rs2240053
dbSNP Clinvar 		7765495 14.92 G T LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.24141 0.24140 0.12074 None None None None None None AFAP1|0.028735408|70.06%
View 16hpc01701_s1 genome 4 rs2285761
dbSNP Clinvar 		7770723 9.8 G T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.37021 0.37020 0.20798 None None None None None None AFAP1|0.028735408|70.06%

AFP
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 16hpc01701_s1 genome 4 rs4235117
dbSNP Clinvar 		74318330 1429.76 A G PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.97704 0.97700 0.02007 None None None None None None AFP|0.580248443|12.58%
View 16hpc01701_s1 genome 4 rs35920062
dbSNP Clinvar 		74318177 597.13 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.02556 0.02556 0.04636 None None None None None None AFP|0.580248443|12.58%

AGA
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 16hpc01701_s1 genome 4 rs2228119
dbSNP Clinvar 		178359960 3217.38 G C PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07474 0.45 0.00 None None None None None None AGA|0.096232451|51.89%

AIMP1
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 16hpc01701_s1 genome 4 rs11544777
dbSNP Clinvar 		107246190 697.17 G C PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.01777 0.01777 0.04683 None None None None None None AIMP1|0.376260891|22.3%

ALB
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 16hpc01701_s1 genome 4 rs962004
dbSNP Clinvar 		74285239 1149.46 C T PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.48343 0.48340 0.48170 None None None None None None ALB|0.999994036|0.04%

ANKRD17
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 16hpc01701_s1 genome 4 . 74008431 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 1.00 None None None None None None ANKRD17|0.584903468|12.36%

ANKRD50
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 16hpc01701_s1 genome 4 rs10018651
dbSNP Clinvar 		125592065 7.08 C A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.28674 0.28670 0.25896 None None None None None None ANKRD50|0.112901516|48.67%

ANTXR2
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 16hpc01701_s1 genome 4 rs72653288
dbSNP Clinvar 		80905991 2213.27 G T PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.00200 0.00200 None None None None None None ANTXR2|0.866348045|4.33%
View 16hpc01701_s1 genome 4 rs12647691
dbSNP Clinvar 		80905990 2658.43 C G PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.80272 0.80270 0.28982 1.00 0.00 None None None None None None ANTXR2|0.866348045|4.33%
View 16hpc01701_s1 genome 4 rs35798108
dbSNP Clinvar 		80898808 973.04 C T PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.04453 0.04453 0.07517 None None None None None None ANTXR2|0.866348045|4.33%

ARAP2
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 16hpc01701_s1 genome 4 . 36069687 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.50 None None None None None None ARAP2|0.117132933|47.92%

ARHGAP24
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 16hpc01701_s1 genome 4 rs6824722
dbSNP Clinvar 		86844835 1028.42 A G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.39637 0.39640 0.31655 None None None None None None ARHGAP24|0.256470392|31.01%
View 16hpc01701_s1 genome 4 rs11547776
dbSNP Clinvar 		86915923 1726.13 G A PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.25459 0.25460 0.19476 None None None None None None ARHGAP24|0.256470392|31.01%
View 16hpc01701_s1 genome 4 rs10003909
dbSNP Clinvar 		86915848 1895.69 T C PASS 0/1 143 SYNONYMOUS_CODING LOW None 0.35443 0.35440 0.29909 None None None None None None ARHGAP24|0.256470392|31.01%

ATP10D
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 16hpc01701_s1 genome 4 rs16851681
dbSNP Clinvar 		47578971 1630.24 G A PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.28195 0.28190 0.27057 1.00 0.00 None None None None None None ATP10D|0.06998296|57.49%
View 16hpc01701_s1 genome 4 rs33995001
dbSNP Clinvar 		47514685 2037.36 C T PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.30491 0.30490 0.38967 0.05 0.07 None None None None None None ATP10D|0.06998296|57.49%
View 16hpc01701_s1 genome 4 rs11729411
dbSNP Clinvar 		47560163 3102.26 C A PASS 0/1 261 SYNONYMOUS_CODING LOW None 0.22464 0.22460 0.21329 None None None None None None ATP10D|0.06998296|57.49%
View 16hpc01701_s1 genome 4 rs4145944
dbSNP Clinvar 		47593283 946.73 G C PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.43957 1.00 0.00 None None None None None None ATP10D|0.06998296|57.49%
View 16hpc01701_s1 genome 4 rs34169638
dbSNP Clinvar 		47560015 3072.79 A G PASS 0/1 247 NON_SYNONYMOUS_CODING MODERATE None 0.08427 0.08427 0.04713 0.12 0.00 None None None None None None ATP10D|0.06998296|57.49%

BANK1
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 16hpc01701_s1 genome 4 rs10516486
dbSNP Clinvar 		102751276 2695.79 C T PASS 0/1 185 SYNONYMOUS_CODING LOW None 0.54034 0.54030 0.48862 None None None None None None BANK1|0.027814487|70.51%
View 16hpc01701_s1 genome 4 rs10516487
dbSNP Clinvar 		102751076 2025.95 G A PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.21845 0.21850 0.28333 0.17 0.00 None None None None None None BANK1|0.027814487|70.51%
View 16hpc01701_s1 genome 4 rs3113676
dbSNP Clinvar 		102965043 821.17 T C PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00938 0.40 0.00 None None None None None None BANK1|0.027814487|70.51%
View 16hpc01701_s1 genome 4 rs3733197
dbSNP Clinvar 		102839287 1346.39 G A PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.22684 0.22680 0.29722 0.05 0.07 None None None None None None BANK1|0.027814487|70.51%

BMP2K
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 16hpc01701_s1 genome 4 . 79781221 9.8 C A LowGQ;LowGQX;SB 1/1 2 None None None 0.07 0.00 None None None None None None BMP2K|0.123580091|46.87%

BTC
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 16hpc01701_s1 genome 4 rs11938093
dbSNP Clinvar 		75675841 485.45 A T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.19988 0.19990 0.26703 0.00 0.99 None None None None None None BTC|0.03501421|67.46%

C4orf33
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 16hpc01701_s1 genome 4 rs337277
dbSNP Clinvar 		130030652 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.69509 0.69510 0.30263 1.00 0.00 None None None None None None C4orf33|0.075968961|56.1%

C4orf50
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 16hpc01701_s1 genome 4 rs4234711
dbSNP Clinvar 		5991384 14.91 T C LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.73802 0.73800 1.00 0.00 None None None None None None C4orf50|0.000584752|98.01%

CAMK2D
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 16hpc01701_s1 genome 4 . 114378508 7.08 T G LowGQ;LowGQX;SB 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None CAMK2D|0.555048734|13.51%

CCDC149
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 16hpc01701_s1 genome 4 . 24854744 9.8 C A LowGQ;LowGQX;SB 1/1 1 STOP_GAINED HIGH None None None None None None None CCDC149|0.179037224|39.13%
View 16hpc01701_s1 genome 4 . 24854704 7.08 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CCDC149|0.179037224|39.13%

CCNA2
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 16hpc01701_s1 genome 4 rs769242
dbSNP Clinvar 		122742217 3379.06 T C PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.96865 0.96870 0.03091 0.77 0.00 None None None None None None CCNA2|0.718963702|7.99%

CEP135
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 16hpc01701_s1 genome 4 rs77591659
dbSNP Clinvar 		56820412 998.44 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.01238 0.01238 0.03091 1.00 0.00 None None None None None None CEP135|0.177031945|39.42%
View 16hpc01701_s1 genome 4 rs3214045
dbSNP Clinvar 		56874517 1159.18 A C PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.13918 0.13920 0.21078 1.00 0.00 None None None None None None CEP135|0.177031945|39.42%

CFI
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 16hpc01701_s1 genome 4 rs11098044
dbSNP Clinvar 		110678925 3875.52 T C PASS 1/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.96685 0.96690 0.03502 0.80 0.00 None None None None None None CFI|0.013786907|78.03%

CHRNA9
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 16hpc01701_s1 genome 4 rs10009228
dbSNP Clinvar 		40356422 3363.81 A G PASS 0/1 253 NON_SYNONYMOUS_CODING MODERATE None 0.74501 0.74500 0.23558 0.43 0.00 None None None None None None CHRNA9|0.127142482|46.31%
View 16hpc01701_s1 genome 4 rs55633891
dbSNP Clinvar 		40356041 2546.44 C T PASS 0/1 232 NON_SYNONYMOUS_CODING MODERATE None 0.14177 0.14180 0.13509 0.48 0.60 None None None None None None CHRNA9|0.127142482|46.31%
View 16hpc01701_s1 genome 4 rs10022491
dbSNP Clinvar 		40337908 1232.75 T C PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.64437 0.64440 0.34546 None None None None None None CHRNA9|0.127142482|46.31%

CLCN3
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 16hpc01701_s1 genome 4 . 170611724 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.18 0.23 None None None None None None CLCN3|0.317818804|26.24%

CLDN22
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 16hpc01701_s1 genome 4 . 184241291 7.08 T G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None WWC2|0.048509885|63.1%,CLDN22|0.012444572|78.92%

CLDN24
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 16hpc01701_s1 genome 4 rs6839940
dbSNP Clinvar 		184242959 14.91 C G LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.20607 0.20610 0.66 0.00 None None None None None None CLDN24|0.012623495|78.8%

CLNK
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 16hpc01701_s1 genome 4 rs2903960
dbSNP Clinvar 		10502937 6832.59 T G PASS 1/1 234 SYNONYMOUS_CODING LOW None 0.99002 0.99000 0.00858 None None None None None None CLNK|0.005919624|84.67%

CNGA1
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 16hpc01701_s1 genome 4 rs7693648
dbSNP Clinvar 		47973110 1326.33 G A PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.45927 0.45930 0.00 None None None None None None NIPAL1|0.065350151|58.53%,CNGA1|0.095013818|52.11%

COL25A1
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 16hpc01701_s1 genome 4 rs7689008
dbSNP Clinvar 		109745336 651.73 T G PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.31010 0.31010 0.35179 None None None None None None COL25A1|0.612068275|11.4%

COQ2
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 16hpc01701_s1 genome 4 rs6535454
dbSNP Clinvar 		84191031 3434.64 A G PASS 1/1 110 SYNONYMOUS_CODING LOW None 0.77816 0.77820 0.26315 None None None None None None COQ2|0.032632343|68.33%
View 16hpc01701_s1 genome 4 rs6818847
dbSNP Clinvar 		84205872 829.87 C A PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.64976 0.64980 0.31481 0.33 0.00 None None None None None None COQ2|0.032632343|68.33%

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 16hpc01701_s1 genome 4 rs11934749
dbSNP Clinvar 		47667064 2199.67 T C PASS 1/1 77 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 16hpc01701_s1 genome 4 rs2289433
dbSNP Clinvar 		47839929 593.95 C T PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.69349 0.69350 0.29479 1.00 0.00 None None None None None None CORIN|0.070281141|57.43%
View 16hpc01701_s1 genome 4 rs10517195
dbSNP Clinvar 		47682174 2560.96 A G PASS 0/1 211 SYNONYMOUS_CODING LOW None 0.37101 0.37100 0.49439 None None None None None None CORIN|0.070281141|57.43%

CPZ
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 16hpc01701_s1 genome 4 rs4301095
dbSNP Clinvar 		8602884 8969.56 T C PASS 1/1 308 SYNONYMOUS_CODING LOW None 0.98343 0.98340 0.01607 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View 16hpc01701_s1 genome 4 rs7378066
dbSNP Clinvar 		8616179 2137.86 T C PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.99541 0.99540 0.00577 0.80 0.00 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View 16hpc01701_s1 genome 4 rs4431213
dbSNP Clinvar 		8602935 9481.02 A G PASS 1/1 330 SYNONYMOUS_CODING LOW None 0.98343 0.98340 0.01584 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View 16hpc01701_s1 genome 4 rs1131140
dbSNP Clinvar 		8616096 430.52 T C PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.61681 0.61680 0.49731 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View 16hpc01701_s1 genome 4 rs28514374
dbSNP Clinvar 		8621194 6902.0 A G PASS 1/1 214 SYNONYMOUS_CODING LOW None 0.99541 0.99540 0.00354 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%
View 16hpc01701_s1 genome 4 rs2302583
dbSNP Clinvar 		8594574 1389.25 T C PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.80611 0.80610 0.16 0.00 None None None None None None GPR78|0.001761068|91.64%,CPZ|0.017285966|75.68%

CRIPAK
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 16hpc01701_s1 genome 4 rs9328733
dbSNP Clinvar 		1388583 9.8 A G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.77197 0.77200 0.23774 0.08 0.00 None None None None None None CRIPAK|0.000914016|95.95%
View 16hpc01701_s1 genome 4 rs112233131
dbSNP Clinvar 		1388759 7.08 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.00 None None None None None None CRIPAK|0.000914016|95.95%
View 16hpc01701_s1 genome 4 rs373946226
dbSNP Clinvar 		1388755 7.08 C G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.11302 0.11300 None None None None None None CRIPAK|0.000914016|95.95%

CRMP1
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 16hpc01701_s1 genome 4 rs16837723
dbSNP Clinvar 		5841350 4.97 A G LowGQX;SB 0/1 2 SYNONYMOUS_CODING LOW None 0.29832 0.29830 0.22528 None None None None None None CRMP1|0.148701425|43.19%

CWH43
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 16hpc01701_s1 genome 4 . 48996764 14.92 G T LowGQ;LowGQX 1/1 2 STOP_GAINED HIGH None None None None None None None CWH43|0.031780385|68.7%

CXCL11
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 16hpc01701_s1 genome 4 . 76956246 114.26 T . PASS 0 40 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00140 0.00140 0.00256 None None None None None None ART3|0.030297824|69.28%,CXCL11|0.037792654|66.53%
View 16hpc01701_s1 genome 4 rs553024147
dbSNP Clinvar 		76956243 1954.81 CGTT C PASS 0/1 76 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00140 0.00140 0.00256 None None None None None None ART3|0.030297824|69.28%,CXCL11|0.037792654|66.53%
View 16hpc01701_s1 genome 4 . 76956244 123.27 G . PASS 0 40 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00140 0.00140 0.00256 None None None None None None ART3|0.030297824|69.28%,CXCL11|0.037792654|66.53%
View 16hpc01701_s1 genome 4 . 76956245 132.32 T . PASS 0 40 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00140 0.00140 0.00256 None None None None None None ART3|0.030297824|69.28%,CXCL11|0.037792654|66.53%

CXCL5
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 16hpc01701_s1 genome 4 rs425535
dbSNP Clinvar 		74863997 7170.74 T C PASS 1/1 256 SYNONYMOUS_CODING LOW None 0.81310 0.81310 0.20898 None None None None None None CXCL5|0.004284463|86.62%

CYP4V2
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 16hpc01701_s1 genome 4 rs13146272
dbSNP Clinvar 		187120211 2024.76 C A PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.55931 0.55930 0.37175 1.00 0.00 None None None None None None CYP4V2|0.027940176|70.46%
View 16hpc01701_s1 genome 4 rs3736455
dbSNP Clinvar 		187122319 775.79 T G PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.57748 0.57750 0.36007 None None None None None None CYP4V2|0.027940176|70.46%

CYTL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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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 16hpc01701_s1 genome 4 . 5016903 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.14 0.36 0.00 0.07213 T None None None None CYTL1|0.016060384|76.44%

DCHS2
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 16hpc01701_s1 genome 4 rs4696593
dbSNP Clinvar 		155410822 9.8 G A LowGQ;LowGQX;SB 1/1 1 None None None 0.58087 0.58090 0.47525 None None None None None None DCHS2|0.027332994|70.73%
View 16hpc01701_s1 genome 4 . 155254227 9.8 C G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.58 0.03 None None None None None None DCHS2|0.027332994|70.73%
View 16hpc01701_s1 genome 4 rs11935573
dbSNP Clinvar 		155241572 9.8 G A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.26298 0.26300 0.25012 0.00 0.94 None None None None None None DCHS2|0.027332994|70.73%
View 16hpc01701_s1 genome 4 rs7656522
dbSNP Clinvar 		155411065 9.8 T C LowGQ;LowGQX;SB 1/1 1 None None None 0.77656 0.77660 0.31757 None None None None None None DCHS2|0.027332994|70.73%
View 16hpc01701_s1 genome 4 . 155410921 7.08 G T LowGQ;LowGQX;SB 1/1 1 None None None None None None None None None DCHS2|0.027332994|70.73%

DCUN1D4
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 16hpc01701_s1 genome 4 . 52771366 7.08 G T LowGQ;LowGQX;SB 1/1 1 None None None 0.00 None None None None None None DCUN1D4|0.580507296|12.56%

DDIT4L
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 16hpc01701_s1 genome 4 rs140725424
dbSNP Clinvar 		101109088 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00023 0.04 0.39 None None None None None None DDIT4L|0.119126121|47.56%

DDX60
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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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 16hpc01701_s1 genome 4 . 169227697 9.8 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None DDX60|0.008612712|82.02%

DDX60L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16hpc01701_s1 genome 4 rs2684348
dbSNP Clinvar 		169282355 9.8 T C LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.57847 0.57850 0.41856 0.16 0.00 None None None None None None DDX60L|0.002204005|90.41%