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+ Genes 418

Genes:
ABHD17A, AC002472.13, ACOT2, ACR, ACSM2A, ACSM2B, ADAM21, ADAMTS7, ADH1B, AGAP7, AGAP8, AGAP9, AHNAK2, AKR1C1, AKR1C2, AMY2A, ANAPC1, ANKRD20A1, ANKRD20A2, ANKRD20A4, ANKRD30A, ANKRD30B, ANKRD30BL, ANKRD36, ANP32B, ANXA8L2, APOBEC3A, AQP12A, AQP12B, ARHGEF35, ARHGEF5, ARMC4, ARMCX6, ASTE1, BMP8A, BRD9, C3orf27, C6orf201, C9orf129, CBWD1, CBWD3, CBWD6, CCDC144NL, CCDC40, CCL4, CCL4L1, CCZ1, CCZ1B, CD177, CDC27, CDRT1, CDRT15, CEL, CELA3B, CEP170, CFHR4, CFTR, CGB5, CGB7, CGB8, CHRNA7, CISD2, CLCNKB, CNN2, CNTNAP3, CNTNAP3B, CPAMD8, CSNK2A3, CTAGE15, CTAGE4, CTAGE8, CTAGE9, CTBP2, CXorf40A, CYP2A7, CYP2D6, CYP2D7P, CYP2F1, CYP4F2, DDX11, DEFB104A, DEFB108B, DEFB4B, DLX6, DRD5, DSPP, DTX2, DUSP22, EEF1A1, ENTPD2, ERVV-2, ESRRA, ETV6, FAM153A, FAM205A, FAM21A, FAM21B, FAM21C, FAM27A, FAM27B, FAM27E1, FAM27E2, FAM86B1, FAM86B2, FAM90A1, FCGBP, FCGR1A, FCGR2B, FCGR3B, FFAR3, FLG, FOLH1, FOXD4L1, FOXD4L3, FOXD4L5, FOXD4L6, FOXO3, FRG1, FRG1B, FRG2B, FRMPD2, FUT5, FUT6, GCC2, GGT1, GOLGA6A, GOLGA6B, GOLGA6D, GOLGA6L4, GOLGA6L6, GOLGA8A, GOLGA8B, GOLGA8F, GOLGA8I, GOLGA8O, GOLGA8S, GOLGA8T, GPAT2, GSTT2B, GTF2IRD2, GXYLT1, GYPA, HAGHL, HBG1, HCAR2, HCAR3, HERC2, HLA-B, HNRNPCL1, HOXD8, HRNR, HS6ST1, HYDIN, IFNA10, IFNA4, IGFN1, INTS4, KCNJ12, KDM4E, KIAA1468, KIR2DL1, KIR3DL1, KIR3DL3, KLRC3, KMT2C, KMT2E, KRT18, KRT81, KRTAP10-4, KRTAP10-6, KRTAP10-7, KRTAP4-11, KRTAP4-9, KRTAP5-3, KRTAP5-5, KRTAP9-2, KRTAP9-8, LEFTY1, LGALS9B, LILRA2, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LIMS1, LRRC37A3, MAGEC1, MARCKS, MBD3L3, MBD6, METTL2A, MFAP2, MGAM, MST1, MTCH2, MUC12, MUC16, MUC20, MUC4, MUC5B, MUC6, NANOG, NBPF1, NBPF10, NBPF12, NBPF14, NBPF15, NBPF16, NBPF20, NBPF3, NBPF9, NCF1, NEB, NLGN4X, NLGN4Y, NLRP7, NOTCH2, NOTCH2NL, NPAS1, NPIPA1, NPIPA5, NPY4R, NT5C3A, NUS1, NUTM2A, NUTM2B, NUTM2D, NUTM2F, NUTM2G, NXF5, OGFR, OR10G4, OR10G7, OR10G9, OR10H1, OR10H2, OR10H5, OR11H1, OR11H12, OR1D5, OR1E2, OR1L6, OR2A1, OR2A42, OR2A7, OR2T12, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T5, OR2T8, OR3A3, OR4C46, OR4N4, OR51A2, OR52I1, OR6B2, OR6B3, OR8B2, PABPC1, PABPC3, PCDHA4, PCDHA8, PCDHB10, PCDHB11, PCDHB13, PCDHB14, PCDHB16, PCDHB2, PCDHB3, PCDHB8, PDE4DIP, PGAM4, PHC1, PHF1, PI4KA, PKD1, PMS2, POM121, POM121C, POTEB, POTEB2, POTEC, POTEE, POTEF, POTEG, POTEH, POTEI, POTEJ, POTEM, PPIAL4G, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF13, PRAMEF19, PRAMEF2, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRB3, PRH1, PRSS1, PRSS3, PSG2, PSG9, RANBP10, RASA4B, RBMX, RBMXL1, REXO1L1P, RFPL2, RFPL4A, RFPL4AL1, RGPD3, RGPD4, RGPD8, RHOXF2B, RIMBP3, RIMBP3B, RP11-1407O15.2, RP11-514P8.7, RP1L1, RPL10, RPSAP58, RSPH10B, RSPH10B2, SAA1, SAA2, SDHA, SFTPA1, SFTPA2, SIGLEC11, SIRPA, SKA3, SLC16A6, SLC35E2, SLC35E2B, SLC9B1, SLFN13, SMG1, SPAG11A, SPANXC, SPATA31A3, SPATA31A4, SPATA31A6, SPATA31A7, SPDYE2, SPIN2A, SPRR2A, SRGAP2, STEAP1B, STRC, SULT1A2, SULT1A3, SUSD2, SVIL, TAF1B, TAS2R30, TAS2R43, TAS2R46, TBC1D3, TBC1D3B, TBC1D3H, TCEB3C, TCP11X2, THAP11, TIMM23, TLR1, TMBIM4, TMEM128, TNFRSF10C, TOP3B, TPSAB1, TPSB2, TPTE, TPTE2, TRGC1, TRIM16, TRIM43, TRIM49C, TRIM49D1, TRIM64B, TTC30A, TUBA1C, TUBB8, TUBG2, UBC, UBXN11, UPK3BL, USP17L17, USP17L18, USP17L2, VCX, VCX2, VCX3A, VWF, XKR3, ZDHHC11, ZNF286A, ZNF322, ZNF417, ZNF443, ZNF479, ZNF492, ZNF587B, ZNF658, ZNF705A, ZNF705D, ZNF717, ZNF813, ZNF98,

+ Genes associated with diseases 51

Genes at Omim

ACR, ADH1B, AKR1C2, ARMC4, CCDC40, CEL, CFTR, CISD2, CLCNKB, CPAMD8, CYP2D6, DDX11, DRD5, DSPP, ETV6, FCGR1A, FCGR2B, FCGR3B, FLG, FUT6, GGT1, GYPA, HBG1, HERC2, HLA-B, HS6ST1, HYDIN, KIR3DL1, KMT2C, KRT18, KRT81, MUC5B, NCF1, NEB, NOTCH2, NT5C3A, NUS1, PHC1, PI4KA, PKD1, PMS2, PRSS1, RBMX, RP1L1, RPL10, SDHA, SFTPA2, STRC, TLR1, TUBB8, VWF,
ACR ?Male infertility due to acrosin deficiency (2)
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
AKR1C2 46XY sex reversal 8, 614279 (3)
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CEL Maturity-onset diabetes of the young, type VIII, 609812 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CISD2 Wolfram syndrome 2, 604928 (3)
CLCNKB Bartter syndrome, type 3, 607364 (3)
Bartter syndrome, type 4b, digenic, 613090 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DDX11 Warsaw breakage syndrome, 613398 (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)
ETV6 Leukemia, acute myeloid, somatic, 601626 (3)
Thrombocytopenia 5, 616216 (3)
FCGR1A [IgG receptor I, phagocytic, familial deficiency of] (3)
FCGR2B {Malaria, resistance to}, 611162 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
FCGR3B Neutropenia, alloimmune neonatal (3)
FLG Ichthyosis vulgaris, 146700 (3)
{Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
GGT1 ?Glutathioninuria, 231950 (3)
GYPA {Malaria, resistance to}, 611162 (3)
[Blood group, MNSs system], 111300 (3)
HBG1 Fetal hemoglobin quantitative trait locus 1, 141749 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HS6ST1 {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
KRT18 Cirrhosis, cryptogenic, 215600 (3)
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
KRT81 Monilethrix, 158000 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
NCF1 Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
NT5C3A Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
NUS1 Mental retardation, autosomal dominant 55, with seizures, 617831 (3)
?Congenital disorder of glycosylation, type 1aa, 617082 (3)
PHC1 ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PKD1 Polycystic kidney disease 1, 173900 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
RPL10 Mental retardation, X-linked, syndromic, 35, 300998 (3)
{Autism, susceptibility to, X-linked 5}, 300847 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SFTPA2 Pulmonary fibrosis, idiopathic, 178500 (3)
STRC Deafness, autosomal recessive 16, 603720 (3)
TLR1 {Leprosy, protection against}, 613223 (3)
{Leprosy, susceptibility to, 5}, 613223 (3)
TUBB8 Oocyte maturation defect 2, 616780 (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)

Genes at Clinical Genomics Database

AKR1C2, ARMC4, CCDC40, CEL, CFHR4, CFTR, CISD2, CLCNKB, CYP2D6, CYP4F2, DDX11, DSPP, ETV6, FLG, FUT6, GYPA, HBG1, HERC2, HLA-B, HS6ST1, KRT81, NCF1, NEB, NLGN4X, NLRP7, NOTCH2, NT5C3A, NXF5, PHC1, PI4KA, PKD1, PMS2, PRSS1, RBMX, RP1L1, SDHA, SFTPA2, STRC, TUBB8, VWF,
AKR1C2 46,XY sex reversal 8
ARMC4 Ciliary dyskinesia, primary, 23
CCDC40 Ciliary dyskinesia, primary, 15
CEL Maturity-onset diabetes of the young, type 8
CFHR4 Hemolytic-uremic syndrome, atypical, susceptibility to
CFTR Cystic fibrosis
CISD2 Wolfram syndrome 2
CLCNKB Bartter syndrome, type 3
Bartter syndrome, type 4, digenic
CYP2D6 Drug metabolism, CYP2CD6-related
CYP4F2 Warfarin metabolism
DDX11 Warsaw breakage syndrome
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
ETV6 Thrombocytopenia 5
FLG Icthyosis vulgaris
FUT6 Fucosyltransferase 6 deficiency
GYPA Blood group, MN locus
Blood group, Erik
HBG1 Hereditary persistence of fetal hemoglobin
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HLA-B Drug-induced toxicity, susceptibility to
HS6ST1 Hypogonadotropic hypogonadism 15, with or without anosmia
KRT81 Monilethrix
NCF1 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I
NEB Nemaline myopathy 2
NLGN4X Asperger syndrome, X-linked 2
Autism, X-linked 2
Mental retardation, X-linked
NLRP7 Hydatidiform mole, recurrent, 1
NOTCH2 Alagille syndrome 2
NT5C3A Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NXF5 Familial heart block and focal segmental glomerulosclerosis
PHC1 Primary microcephaly 11
PI4KA Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PKD1 Polycystic kidney disease, adult type I
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
PRSS1 Pancreatitis, hereditary
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SFTPA2 Pulmonary fibrosis, idiopathic
STRC Deafness, autosomal recessive 16
TUBB8 Oocyte maturation defect 2
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3

Genes at HGMD

Summary

Number of Variants: 2234
Number of Genes: 418

Export to: CSV

ABHD17A
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 rs762199778
dbSNP Clinvar 		1881526 530.88 AG A HARD_TO_VALIDATE 0/1 100 FRAME_SHIFT HIGH None None None None None None None ABHD17A|0.044405191|64.37%

AC002472.13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 rs201821840
dbSNP Clinvar 		21403360 521.91 C T HARD_TO_VALIDATE 0|1 48 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.80 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 rs28504593
dbSNP Clinvar 		21403375 1004.92 C A HARD_TO_VALIDATE 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.18311 0.18310 0.00 1.00 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 rs28450680
dbSNP Clinvar 		21403376 1004.92 C T HARD_TO_VALIDATE 0/1 53 SYNONYMOUS_CODING LOW None 0.18311 0.18310 None None None None None None None

ACOT2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs7494
dbSNP Clinvar 		74042189 102.14 A G HARD_TO_VALIDATE 0|1 8 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.00 None None None None None None ACOT2|0.010972761|80.08%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs149033118
dbSNP Clinvar 		74041748 2361.9 A G HARD_TO_VALIDATE 1|1 26 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.00 None None None None None None ACOT2|0.010972761|80.08%

ACR
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 rs5771002
dbSNP Clinvar 		51183255 2357.9 A G HARD_TO_VALIDATE 1|1 20 NON_SYNONYMOUS_CODING MODERATE None 0.72584 0.72580 0.57 0.02 None None None None None None ACR|0.009551139|81.19%

ACSM2A
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 16 rs1700805
dbSNP Clinvar 		20488696 1514.16 A G HARD_TO_VALIDATE 1|1 28 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 16 rs9924150
dbSNP Clinvar 		20492000 149.58 A G HARD_TO_VALIDATE 1|1 4 NON_SYNONYMOUS_CODING MODERATE None 0.82628 0.82630 1.00 0.00 None None None None None None ACSM2A|0.005190474|85.6%

ACSM2B
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 16 rs78729855
dbSNP Clinvar 		20576048 1244.16 C A HARD_TO_VALIDATE 1|0 52 SYNONYMOUS_CODING LOW None 0.26518 0.26520 0.14797 None None None None None None ACSM2B|0.005001118|85.81%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 16 rs8056693
dbSNP Clinvar 		20570661 2171.9 T C HARD_TO_VALIDATE 1|1 24 NON_SYNONYMOUS_CODING MODERATE None 0.95347 0.95350 1.00 0.00 None None None None None None ACSM2B|0.005001118|85.81%

ADAM21
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs72735759
dbSNP Clinvar 		70924602 207.92 T G HARD_TO_VALIDATE 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.49 None None None None None None ADAM21|0.009866102|80.97%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs12436346
dbSNP Clinvar 		70925257 3085.9 A G HARD_TO_VALIDATE 1|1 35 SYNONYMOUS_CODING LOW None 0.02736 None None None None None None ADAM21|0.009866102|80.97%

ADAMTS7
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs11630236
dbSNP Clinvar 		79058298 1600.92 T C HARD_TO_VALIDATE 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.18111 0.18110 0.55 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs201462332
dbSNP Clinvar 		79058378 1144.92 A G HARD_TO_VALIDATE 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.81 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs201636673
dbSNP Clinvar 		79058375 1147.92 A G HARD_TO_VALIDATE 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs199823022
dbSNP Clinvar 		79058339 544.92 A C HARD_TO_VALIDATE 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.48 0.00 None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs746840767
dbSNP Clinvar 		79058317 466.92 C T HARD_TO_VALIDATE 0/1 36 SYNONYMOUS_CODING LOW None None None None None None None ADAMTS7|0.010836867|80.23%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs200436984
dbSNP Clinvar 		79058307 187.16 A T HARD_TO_VALIDATE 1|0 36 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ADAMTS7|0.010836867|80.23%

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 4 rs1789882
dbSNP Clinvar 		100235053 7122.9 A G HARD_TO_VALIDATE 1|1 82 SYNONYMOUS_CODING LOW None 0.82967 0.82970 0.19151 None None None None None None ADH1B|0.074839204|56.32%

AGAP7
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs199907084
dbSNP Clinvar 		51486055 231.54 T C HARD_TO_VALIDATE 1|1 3 SYNONYMOUS_CODING LOW None None None None None None None AGAP7P|0.001668593|92.02%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs4043619
dbSNP Clinvar 		51465783 1082.65 T C HARD_TO_VALIDATE 1|1 23 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None AGAP7P|0.001668593|92.02%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs199898426
dbSNP Clinvar 		51465650 2182.92 C T HARD_TO_VALIDATE 0/1 186 NON_SYNONYMOUS_CODING MODERATE None 0.38059 0.38060 0.02 0.38 None None None None None None AGAP7P|0.001668593|92.02%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs61850064
dbSNP Clinvar 		51465552 9733.9 A T HARD_TO_VALIDATE 1|1 102 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None AGAP7P|0.001668593|92.02%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs61850063
dbSNP Clinvar 		51464656 448.92 G C HARD_TO_VALIDATE 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.08 0.18 None None None None None None AGAP7P|0.001668593|92.02%

AGAP8
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs80103077
dbSNP Clinvar 		51225623 232.93 A G HARD_TO_VALIDATE 0|1 36 SYNONYMOUS_CODING LOW None 0.82029 0.82030 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs200027998
dbSNP Clinvar 		51225724 438.9 G C HARD_TO_VALIDATE 0|1 32 NON_SYNONYMOUS_CODING MODERATE None 0.37460 0.37460 0.03 0.99 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs61846940
dbSNP Clinvar 		51225281 445.56 C G HARD_TO_VALIDATE 0|1 1 NON_SYNONYMOUS_CODING MODERATE None 0.54 0.00 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs782494670
dbSNP Clinvar 		51226118 1000.89 G A HARD_TO_VALIDATE 1|1 27 SYNONYMOUS_CODING LOW None None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs782795368
dbSNP Clinvar 		51225872 634.6 G T HARD_TO_VALIDATE 0|1 26 SYNONYMOUS_CODING LOW None None None None None None None None

AGAP9
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs200283865
dbSNP Clinvar 		48235892 3670.13 C T HARD_TO_VALIDATE 1|1 62 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 None None None None None None AGAP9|0.003287592|88.1%

AHNAK2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs28564728
dbSNP Clinvar 		105412005 121.16 A G HARD_TO_VALIDATE 0|1 40 SYNONYMOUS_CODING LOW None 0.37280 0.37280 0.27296 None None None None None None AHNAK2|0.000253171|99.62%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs10134675
dbSNP Clinvar 		105415229 746.16 T C HARD_TO_VALIDATE 0|1 65 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.28230 0.00 None None None None None None AHNAK2|0.000253171|99.62%

AKR1C1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs1138600
dbSNP Clinvar 		5010572 1370.9 A G HARD_TO_VALIDATE 1|1 15 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

AKR1C2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs3207909
dbSNP Clinvar 		5041398 947.16 T C HARD_TO_VALIDATE 1|0 38 SYNONYMOUS_CODING LOW None None None None None None None AKR1C2|0.002182475|90.47%

AMY2A
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs1140401
dbSNP Clinvar 		104166496 6743.16 T C HARD_TO_VALIDATE 1|1 127 SYNONYMOUS_CODING LOW None None None None None None None AMY2A|0.010704532|80.36%

ANAPC1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs79100806
dbSNP Clinvar 		112615888 121.93 C G HARD_TO_VALIDATE 1|0 83 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.00 None None None None None None ANAPC1|0.14646446|43.53%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs939797
dbSNP Clinvar 		112536264 2820.9 G T HARD_TO_VALIDATE 1|1 23 SYNONYMOUS_CODING LOW None 0.00278 None None None None None None ANAPC1|0.14646446|43.53%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs141604036
dbSNP Clinvar 		112614384 295.16 C G HARD_TO_VALIDATE 1|0 138 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.31 None None None None None None ANAPC1|0.14646446|43.53%

ANKRD20A1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs28618293
dbSNP Clinvar 		67934804 612.92 T A HARD_TO_VALIDATE 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.36062 0.36060 0.18 0.00 None None None None None None ANKRD20A1|0.001623081|92.24%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs199688120
dbSNP Clinvar 		67968354 727.92 G A HARD_TO_VALIDATE 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.07189 0.07188 0.30 0.00 None None None None None None ANKRD20A1|0.001623081|92.24%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs62542472
dbSNP Clinvar 		67968476 3327.92 C T HARD_TO_VALIDATE 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.00 None None None None None None ANKRD20A1|0.001623081|92.24%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs757153521
dbSNP Clinvar 		67927001 289.05 A G HARD_TO_VALIDATE 1|1 4 SYNONYMOUS_CODING LOW None None None None None None None ANKRD20A1|0.001623081|92.24%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs200689776
dbSNP Clinvar 		67927015 251.39 A G HARD_TO_VALIDATE 1|1 3 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.91 None None None None None None ANKRD20A1|0.001623081|92.24%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs200972432
dbSNP Clinvar 		67968458 4453.92 G A HARD_TO_VALIDATE 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.54 0.00 None None None None None None ANKRD20A1|0.001623081|92.24%

ANKRD20A2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs2207456
dbSNP Clinvar 		42410290 1153.13 T C HARD_TO_VALIDATE 1|1 17 NON_SYNONYMOUS_CODING MODERATE None 0.58 0.01 None None None None None None ANKRD20A3|0.001944577|91.12%,ANKRD20A2|0.001339079|93.66%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs200348657
dbSNP Clinvar 		42368614 1403.92 A G HARD_TO_VALIDATE 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.15 None None None None None None ANKRD20A3|0.001944577|91.12%,ANKRD20A2|0.001339079|93.66%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs2940832
dbSNP Clinvar 		42410368 2396.13 T C HARD_TO_VALIDATE 1|1 32 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.04 None None None None None None ANKRD20A3|0.001944577|91.12%,ANKRD20A2|0.001339079|93.66%

ANKRD20A4
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs200769647
dbSNP Clinvar 		69390020 492.92 T A HARD_TO_VALIDATE 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.19 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs199885239
dbSNP Clinvar 		69423668 253.92 A C HARD_TO_VALIDATE 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.09 1.00 None None None None None None ANKRD20A4|0.002453356|89.79%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 . 69421983 454.36 G C HARD_TO_VALIDATE 1|0 29 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.26 None None None None None None ANKRD20A4|0.002453356|89.79%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs200259990
dbSNP Clinvar 		69391171 407.16 G A HARD_TO_VALIDATE 0|1 49 NON_SYNONYMOUS_CODING MODERATE None 0.69 0.00 None None None None None None ANKRD20A4|0.002453356|89.79%

ANKRD30A
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs2997349
dbSNP Clinvar 		37478445 1343.91 G A HARD_TO_VALIDATE 1|1 11 SYNONYMOUS_CODING LOW None 0.93171 0.93170 None None None None None None ANKRD30A|0.001436042|93.14%

ANKRD30B
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 18 rs12386087
dbSNP Clinvar 		14852335 5300.9 C A HARD_TO_VALIDATE 1|1 55 NON_SYNONYMOUS_CODING MODERATE None 0.96825 0.96830 0.37 0.00 None None None None None None ANKRD30B|0.000995671|95.47%

ANKRD30BL
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs199695856
dbSNP Clinvar 		132919171 581.92 A G HARD_TO_VALIDATE 0/1 178 SYNONYMOUS_CODING LOW None None None None None None None ANKRD30BL|0.00124875|94.17%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs111295191
dbSNP Clinvar 		132919192 310.95 G A HARD_TO_VALIDATE 0/1 169 SYNONYMOUS_CODING LOW None None None None None None None ANKRD30BL|0.00124875|94.17%

ANKRD36
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs112133169
dbSNP Clinvar 		97833466 872.92 C T HARD_TO_VALIDATE 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.78 0.35 None None None None None None ANKRD36|0.001192347|94.46%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs60795069
dbSNP Clinvar 		97864374 2580.13 G T HARD_TO_VALIDATE 1|1 41 NON_SYNONYMOUS_CODING MODERATE None 0.40455 0.40460 0.14 0.00 None None None None None None ANKRD36|0.001192347|94.46%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs5008284
dbSNP Clinvar 		97833342 2265.92 G A HARD_TO_VALIDATE 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ANKRD36|0.001192347|94.46%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs62156176
dbSNP Clinvar 		97883094 101.16 T G HARD_TO_VALIDATE 1|0 112 NON_SYNONYMOUS_CODING MODERATE None 0.17 0.01 None None None None None None ANKRD36|0.001192347|94.46%

ANP32B
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs76167314
dbSNP Clinvar 		100777705 300.92 G A HARD_TO_VALIDATE 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.00 None None None None None None ANP32B|0.351800118|23.96%

ANXA8L2
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs202221168
dbSNP Clinvar 		47756662 269.9 T G HARD_TO_VALIDATE 0|1 4 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.02 None None None None None None None

APOBEC3A
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 rs35994173
dbSNP Clinvar 		39357581 9349.9 C T HARD_TO_VALIDATE 1|1 117 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.24581 0.24580 0.20635 None None None None None None APOBEC3A|0.000261531|99.57%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 22 rs2294363
dbSNP Clinvar 		39357634 748.93 A G HARD_TO_VALIDATE 1|1 8 SYNONYMOUS_CODING LOW None None None None None None None APOBEC3A|0.000261531|99.57%

AQP12A
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs780076932
dbSNP Clinvar 		241631461 213.09 CG C HARD_TO_VALIDATE 0/1 128 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None AQP12A|0.003463106|87.81%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs58669952
dbSNP Clinvar 		241631901 1399.52 C T HARD_TO_VALIDATE 1|1 8 SYNONYMOUS_CODING LOW None None None None None None None AQP12A|0.003463106|87.81%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs146209567
dbSNP Clinvar 		241631390 400.17 G A HARD_TO_VALIDATE 0|1 129 SYNONYMOUS_CODING LOW None None None None None None None AQP12A|0.003463106|87.81%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs12477907
dbSNP Clinvar 		241631839 1408.98 G A HARD_TO_VALIDATE 1|1 10 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.27 None None None None None None AQP12A|0.003463106|87.81%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs12465023
dbSNP Clinvar 		241631886 1791.6 C G HARD_TO_VALIDATE 1|1 10 SYNONYMOUS_CODING LOW None None None None None None None AQP12A|0.003463106|87.81%

AQP12B
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs201329918
dbSNP Clinvar 		241621747 919.92 C T HARD_TO_VALIDATE 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.09 None None None None None None AQP12B|0.003305104|88.08%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 2 rs200045990
dbSNP Clinvar 		241621659 682.6 G A HARD_TO_VALIDATE 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.03212 0.20 0.01 None None None None None None AQP12B|0.003305104|88.08%

ARHGEF35
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 7 rs79434082
dbSNP Clinvar 		143884437 157.94 G A HARD_TO_VALIDATE 1|0 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.00 None None None None None None ARHGEF35|0.000692626|97.3%

ARHGEF5
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 7 rs3823677
dbSNP Clinvar 		144060802 151.68 C T HARD_TO_VALIDATE 1|0 6 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.00 None None None None None None ARHGEF5|0.018074391|75.24%

ARMC4
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 10 rs7920186
dbSNP Clinvar 		28257852 210.92 C T HARD_TO_VALIDATE 0/1 7 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11122 0.11120 0.46 0.00 None None None None None None ARMC4|0.02617115|71.23%

ARMCX6
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob X rs35319186
dbSNP Clinvar 		100871148 2105.13 T C HARD_TO_VALIDATE 1|1 37 NON_SYNONYMOUS_CODING MODERATE None 0.09828 0.09828 0.09144 0.18 0.08 None None None None None None ARMCX6|0.016865136|75.97%

ASTE1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 3 rs756657713
dbSNP Clinvar 		130733046 446.88 CT C HARD_TO_VALIDATE 0/1 163 FRAME_SHIFT HIGH None None None None None None None ATP2C1|0.628730902|10.83%,ASTE1|0.04522067|64.16%

BMP8A
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs6526
dbSNP Clinvar 		39977575 1283.16 C T HARD_TO_VALIDATE 1|0 11 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None BMP8A|0.080167637|55.11%

BRD9
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 5 rs508016
dbSNP Clinvar 		878525 1004.92 T A HARD_TO_VALIDATE 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.00 None None None None None None BRD9|0.030893639|69.01%

C3orf27
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 3 rs147519916
dbSNP Clinvar 		128292318 239.95 ATC A HARD_TO_VALIDATE 0|1 88 FRAME_SHIFT HIGH None None None None None None None LINC01565|0.000439223|98.74%

C6orf201
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 6 . 4079851 105.09 C CG HARD_TO_VALIDATE 0/1 56 FRAME_SHIFT HIGH None None None None None None None FAM217A|0.02585392|71.39%,C6orf201|0.002009293|90.99%

C9orf129
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs62574460
dbSNP Clinvar 		96097673 720.92 G A HARD_TO_VALIDATE 0/1 22 SYNONYMOUS_CODING LOW None 0.26917 0.26920 None None None None None None C9orf129|0.002952224|88.72%

CBWD1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs12380
dbSNP Clinvar 		172167 482.65 C T HARD_TO_VALIDATE 0|1 121 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -0.05 0.00 0.12408 T None None None None CBWD1|0.029140848|69.81%

CBWD3
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs1127332
dbSNP Clinvar 		70912519 999.9 A C HARD_TO_VALIDATE 1|1 14 NON_SYNONYMOUS_CODING MODERATE None 0.47764 0.47760 0.08 0.04 None None None None None None CBWD3|0.033490012|67.95%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs1127334
dbSNP Clinvar 		70912543 337.96 A T HARD_TO_VALIDATE 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.07 None None None None None None CBWD3|0.033490012|67.95%

CBWD6
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs62553375
dbSNP Clinvar 		69206924 5200.92 T A HARD_TO_VALIDATE 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.07 None None None None None None CBWD6|0.011508605|79.59%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs9411032
dbSNP Clinvar 		69247550 269.11 G A HARD_TO_VALIDATE 1|1 4 SYNONYMOUS_CODING LOW None None None None None None None CBWD6|0.011508605|79.59%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 9 rs201815180
dbSNP Clinvar 		69206699 161.55 G A HARD_TO_VALIDATE 1|0 10 None None None 0.06 0.00 None None None None None None CBWD6|0.011508605|79.59%

CCDC144NL
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs4605228
dbSNP Clinvar 		20768730 280.92 A G HARD_TO_VALIDATE 0/1 84 STOP_LOST HIGH None 0.01018 0.01018 None None None None None None CCDC144NL|0.000779475|96.79%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs73298040
dbSNP Clinvar 		20768816 178.16 C T HARD_TO_VALIDATE 1|0 103 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.00 None None None None None None CCDC144NL|0.000779475|96.79%

CCDC40
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs4889953
dbSNP Clinvar 		78064015 4932.17 G C,... HARD_TO_VALIDATE 2/2 56 None None None 0.67252 0.67250 0.18 0.00 None None None None None None CCDC40|0.000987297|95.52%

CCL4
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs1719146
dbSNP Clinvar 		34431961 2117.9 T C HARD_TO_VALIDATE 1|1 25 SYNONYMOUS_CODING LOW None 0.91274 0.91270 None None None None None None CCL4|0.14302779|43.99%

CCL4L1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs200975376
dbSNP Clinvar 		34539235 134.14 G A HARD_TO_VALIDATE 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.10443 0.10440 0.02 0.61 None None None None None None CCL4L1|0.004358646|86.53%

CCZ1
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 7 rs200812052
dbSNP Clinvar 		5959485 2339.92 G A HARD_TO_VALIDATE 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.64 0.00 None None None None None None CCZ1|0.176689496|39.44%

CCZ1B
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 7 rs62441800
dbSNP Clinvar 		6844574 3197.93 C G HARD_TO_VALIDATE 1|1 64 NON_SYNONYMOUS_CODING MODERATE None 0.32935 0.80 0.00 None None None None None None CCZ1B|0.018364277|75.04%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 7 rs145992513
dbSNP Clinvar 		6859453 2060.92 C G HARD_TO_VALIDATE 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.22205 0.22200 0.01 0.96 None None None None None None CCZ1B|0.018364277|75.04%

CD177
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 rs12980412
dbSNP Clinvar 		43860251 1160.35 G A HARD_TO_VALIDATE 1|1 10 NON_SYNONYMOUS_CODING MODERATE None 0.92312 0.92310 1.00 0.00 None None None None None None CD177|0.000416107|98.86%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 rs12981714
dbSNP Clinvar 		43860192 1141.95 T G HARD_TO_VALIDATE 1|1 18 NON_SYNONYMOUS_CODING MODERATE None 0.96126 0.96130 1.00 0.00 None None None None None None CD177|0.000416107|98.86%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 rs12981771
dbSNP Clinvar 		43860255 1128.35 T G HARD_TO_VALIDATE 1|1 9 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.38 0.00 None None None None None None CD177|0.000416107|98.86%

CDC27
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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs138020641
dbSNP Clinvar 		45214643 191.16 A T HARD_TO_VALIDATE 0|1 90 SYNONYMOUS_CODING LOW None None None None None None None CDC27|0.658499283|9.78%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs75990396
dbSNP Clinvar 		45234645 165.14 G C HARD_TO_VALIDATE 1|0 60 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 None None None None None None CDC27|0.658499283|9.78%