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+ Genes 257

Genes:
ABHD12, ABHD16B, ACSS1, ACTR5, ADA, ADIG, ADRA1D, ADRM1, ANGPT4, ANKEF1, ANKRD60, APCDD1L, ARFGAP1, ARFGEF2, ARFRP1, ARHGAP40, ASXL1, ATP9A, ATRN, AURKA, B4GALT5, BCAS1, BFSP1, BIRC7, BMP2, BPI, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB4, C20orf194, C20orf195, C20orf201, C20orf26, C20orf96, CABLES2, CASS4, CBFA2T2, CD93, CDC25B, CDH4, CDK5RAP1, CDS2, CEBPB, CEP250, CHD6, CHGB, CHRNA4, CNBD2, COL20A1, COL9A3, CRNKL1, CSE1L, CSRP2BP, CST1, CST11, CST3, CST5, CST7, CST8, CST9, CSTL1, CTCFL, CTSZ, CYP24A1, DDRGK1, DDX27, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DHX35, DIDO1, DNMT3B, DNTTIP1, DPM1, DUSP15, DYNLRB1, DZANK1, EBF4, EEF1A2, EFCAB8, ELMO2, ENTPD6, EPB41L1, EPPIN, FAM110A, FAM182B, FAM65C, FAM83D, FERMT1, FITM2, FLRT3, FOXA2, FRG1B, GFRA4, GMEB2, GNAS, GPCPD1, GZF1, HELZ2, HNF4A, HSPA12B, IFT52, ITPA, JAG1, JPH2, KCNG1, KCNK15, KCNQ2, KIF16B, LAMA5, LBP, LPIN3, LZTS3, MACROD2, MAPRE1, MATN4, MAVS, MC3R, MMP9, MROH8, MTG2, MYBL2, MYH7B, MYT1, NCOA5, NCOA6, NELFCD, NINL, NKAIN4, NOP56, NPEPL1, OGFR, OSER1, OTOR, PABPC1L, PAK7, PANK2, PCK1, PCMTD2, PIGT, PLCB4, PLCG1, PMEPA1, POFUT1, PPP1R16B, PPP4R1L, PREX1, PRNT, PROKR2, PSMA7, PSMF1, PTGIS, PTPRA, PTPRT, PXMP4, PYGB, R3HDML, RALGAPA2, RBBP8NL, RBCK1, RBPJL, REM1, RIN2, RP11-429E11.3, RP4-576H24.4, RPN2, RPRD1B, RRBP1, RTEL1, RTEL1-TNFRSF6B, RTFDC1, SALL4, SAMD10, SDCBP2, SEC23B, SEL1L2, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLA2, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A10, SLC2A4RG, SLC4A11, SLC52A3, SLC9A8, SMOX, SNPH, SNX21, SOGA1, SPATA2, SPATA25, SPINT3, SPINT4, SPTLC3, SRC, SRMS, SRSF6, SSTR4, STK35, STX16, SUN5, SYCP2, TAF4, TASP1, TCF15, TGM6, THBD, TLDC2, TMC2, TMEM189-UBE2V1, TMEM74B, TMX4, TNFRSF6B, TNNC2, TOMM34, TP53RK, TRIB3, TRMT6, TRPC4AP, TSHZ2, TUBB1, UBE2V1, UBOX5, UQCC1, VSX1, WFDC10B, WFDC3, WFDC8, WFDC9, WISP2, YTHDF1, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZMYND8, ZNF133, ZNF335, ZNF341, ZNF512B, ZNF831, ZNFX1, ZSWIM3,

+ Genes associated with diseases 57

Genes at Omim

ABHD12, ADA, ARFGEF2, ASXL1, AURKA, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CYP24A1, DDRGK1, DNMT3B, DPM1, EEF1A2, ELMO2, EPB41L1, FERMT1, FLRT3, GNAS, GZF1, HNF4A, IFT52, ITPA, JAG1, JPH2, KCNQ2, MC3R, MMP9, NOP56, PANK2, PCK1, PIGT, PLCB4, POFUT1, PROKR2, PTGIS, RBCK1, RIN2, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC2A10, SLC4A11, SLC52A3, SRC, STX16, SUN5, TGM6, THBD, TP53RK, TUBB1, VSX1, ZNF335, ZNF341,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ARFGEF2 Periventricular heterotopia with microcephaly, 608097 (3)
ASXL1 Bohring-Opitz syndrome, 605039 (3)
Myelodysplastic syndrome, somatic, 614286 (3)
AURKA {Colon cancer, susceptibility to}, 114500 (3)
BFSP1 Cataract 33, multiple types, 611391 (3)
BMP2 {HFE hemochromatosis, modifier of}, 235200 (3)
Brachydactyly, type A2, 112600 (3)
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3)
CHRNA4 {Nicotine addiction, susceptibility to}, 188890 (3)
Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
COL9A3 {Intervertebral disc disease, susceptibility to}, 603932 (3)
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
CST3 Cerebral amyloid angiopathy, 105150 (3)
{Macular degeneration, age-related, 11}, 611953 (3)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (3)
DDRGK1 Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
DPM1 Congenital disorder of glycosylation, type Ie, 608799 (3)
EEF1A2 Epileptic encephalopathy, early infantile, 33, 616409 (3)
Mental retardation, autosomal dominant 38, 616393 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
EPB41L1 ?Mental retardation, autosomal dominant 11, 614257 (3)
FERMT1 Kindler syndrome, 173650 (3)
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
GZF1 Joint laxity, short stature, and myopia, 617662 (3)
HNF4A Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3)
MODY, type I, 125850 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
ITPA Epileptic encephalopathy, early infantile, 35, 616647 (3)
[Inosine triphosphatase deficiency], 613850 (3)
JAG1 Alagille syndrome 1, 118450 (3)
?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3)
Tetralogy of Fallot, 187500 (3)
JPH2 Cardiomyopathy, hypertrophic, 17, 613873 (3)
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 (3)
Myokymia, 121200 (3)
Seizures, benign neonatal, 1, 121200 (3)
MC3R {Mycobacterium tuberculosis, protection against}, 607948 (3)
{Obesity, severe, susceptibility to, BMIQ9}, 602025 (3)
MMP9 Metaphyseal anadysplasia 2, 613073 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PANK2 HARP syndrome, 607236 (3)
Neurodegeneration with brain iron accumulation 1, 234200 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PLCB4 Auriculocondylar syndrome 2, 614669 (3)
POFUT1 Dowling-Degos disease 2, 615327 (3)
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
PTGIS Hypertension, essential, 145500 (3)
RBCK1 Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RTEL1 Dyskeratosis congenita, autosomal dominant 4, 615190 (3)
Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)
SALL4 IVIC syndrome, 147750 (3)
Duane-radial ray syndrome, 607323 (3)
SEC23B Dyserythropoietic anemia, congenital, type II, 224100 (3)
?Cowden syndrome 7, 616858 (3)
SLC12A5 Epileptic encephalopathy, early infantile, 34, 616645 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
SLC17A9 Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
SLC2A10 Arterial tortuosity syndrome, 208050 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
SLC52A3 Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
?Fazio-Londe disease, 211500 (3)
SRC Colon cancer, advanced, somatic, 114500 (3)
?Thrombocytopenia 6, 616937 (3)
STX16 Pseudohypoparathyroidism, type IB, 603233 (3)
SUN5 Spermatogenic failure 16, 617187 (3)
TGM6 Spinocerebellar ataxia 35, 613908 (3)
THBD {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3)
Thrombophilia due to thrombomodulin defect, 614486 (3)
TP53RK Galloway-Mowat syndrome 4, 617730 (3)
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
VSX1 Keratoconus 1, 148300 (3)
?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF335 Microcephaly 10, primary, autosomal recessive, 615095 (3)
ZNF341 Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)

Genes at Clinical Genomics Database

ABHD12, ADA, ARFGEF2, ASXL1, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CYP24A1, DNMT3B, DPM1, EEF1A2, EPB41L1, FERMT1, FLRT3, GNAS, HNF4A, ITPA, JAG1, JPH2, KCNQ2, MMP9, NOP56, PANK2, PIGT, PLCB4, POFUT1, PROKR2, RBCK1, RIN2, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC2A10, SLC4A11, SLC52A3, SRC, STX16, TGM6, THBD, TUBB1, VSX1, ZNF335,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ARFGEF2 Heterotopia, periventricular, autosomal recessive
ASXL1 Bohring-Opitz syndrome
BFSP1 Cataract, cortical, juvenile-onset
BMP2 Brachydactyly, type A2
CHRNA4 Epilepsy, nocturnal frontal lobe, type 1
COL9A3 Epiphyseal dysplasia, multiple, 3
CST3 Cerebral amyloid angiopathy
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DPM1 Congenital disorder of glycosylation, type Ie
EEF1A2 Epileptic encephalopathy, early infantile, 33
Mental retardation, autosomal dominant 28
EPB41L1 Mental retardation, autosomal dominant 11
FERMT1 Kindler syndrome
FLRT3 Hypogonadotropic hypogonadism 21, with or without anosmia
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
HNF4A Congenital hyperinsulinism, diazoxide-responsive
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Maturity onset diabetes of the young, 1
ITPA Inosine triphosphatase deficiency
JAG1 Alagille syndrome
JPH2 Cardiomyopathy, familial hypertrophic 17
KCNQ2 Epileptic encephalopathy, early infantile, 7
Benign familial neonatal seizures, 1
Myokymia
MMP9 Metaphyseal anadysplasia 2
NOP56 Spinocerebellar ataxia 36
PANK2 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Neurodegeneration with brain iron accumulation 1
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB4 Auriculocondylar syndrome 2
POFUT1 Dowling-Degos disease 2
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
RBCK1 Polyglucosan body myopathy 1
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
RTEL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related 3
Dyskeratosis congenita, autosomal dominant 4
Dyskeratosis congenita, autosomal recessive 5
SALL4 Duane-radial ray/Okohiro syndrome
Acro-Renal-Ocular syndrome
SEC23B Cowden syndrome 7
Anemia, dyserythropoietic congenital, type II
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC17A9 Porokeratosis, disseminated superficial actinic, 8
SLC2A10 Arterial tortuosity syndrome
SLC4A11 Cryohydrocytosis
SLC52A3 Brown-Vialetto-Van Laere syndrome 1
Fazio-Londe disease
SRC Thrombocytopenia, autosomal dominant, 6
STX16 Pseudohypoparathyroidism, type IB
TGM6 Spinocerebellar ataxia 35
THBD Thrombophilia due to thrombomodulin defect
Hemolytic uremic syndrome, atypical, susceptibility to, 6
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
Keratoconus 1
Corneal dystrophy, posterior polymorphous
ZNF335 Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 1163
Number of Genes: 257

Export to: CSV

ABHD12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 46651510241455_annotated 20 rs10966
dbSNP Clinvar 		25282944 1029.77 A G PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.54153 0.54150 0.44141 None None None None None None ABHD12|0.092039068|52.8%

ABHD16B
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 46651510241455_annotated 20 rs2236152
dbSNP Clinvar 		62494027 517.77 G C PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.07109 0.07109 0.04973 None None None None None None ABHD16B|0.036737167|66.9%
View 46651510241455_annotated 20 rs74444574
dbSNP Clinvar 		62493978 779.77 G A PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.06530 0.06530 0.04864 0.22 0.01 None None None None None None ABHD16B|0.036737167|66.9%

ACSS1
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 46651510241455_annotated 20 rs66817095
dbSNP Clinvar 		25038484 883.77 G T PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.19149 0.19150 0.12341 None None None None None None ACSS1|0.048821607|63.01%

ACTR5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 46651510241455_annotated 20 rs2245231
dbSNP Clinvar 		37396120 1644.77 A G PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.43331 0.43330 0.44157 0.40 0.00 None None None None None None ACTR5|0.119979077|47.44%
View 46651510241455_annotated 20 rs2748663
dbSNP Clinvar 		37383640 1221.77 T C PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.23922 0.23920 0.24673 None None None None None None ACTR5|0.119979077|47.44%

ADA
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 46651510241455_annotated 20 rs394105
dbSNP Clinvar 		43264927 1900.77 C T PASS 1/1 63 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADIG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 46651510241455_annotated 20 rs370029546
dbSNP Clinvar 		37217040 652.77 G A PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.36 0.00 None None None None None None ADIG|0.001817176|91.49%

ADRA1D
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 46651510241455_annotated 20 rs3803964
dbSNP Clinvar 		4229218 2190.77 G A PASS 0/1 193 SYNONYMOUS_CODING LOW None 0.07528 0.07528 0.00062 None None None None None None ADRA1D|0.152836614|42.55%

ADRM1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 46651510241455_annotated 20 rs2427273
dbSNP Clinvar 		60881330 5953.77 G A PASS 1/1 198 SYNONYMOUS_CODING LOW None 0.81789 0.81790 0.16377 None None None None None None ADRM1|0.222122669|34.19%
View 46651510241455_annotated 20 rs2427275
dbSNP Clinvar 		60881780 1341.77 T C PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.96286 0.96290 0.03147 None None None None None None ADRM1|0.222122669|34.19%

ANGPT4
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 46651510241455_annotated 20 rs944110
dbSNP Clinvar 		854940 4089.77 T C PASS 1/1 133 SYNONYMOUS_CODING LOW None 0.51298 0.51300 0.39090 None None None None None None ANGPT4|0.024319862|72.08%

ANKEF1
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 46651510241455_annotated 20 rs575534
dbSNP Clinvar 		10019093 2510.77 A G PASS 0/1 215 SYNONYMOUS_CODING LOW None 0.56550 0.56550 0.35514 None None None None None None ANKEF1|0.06517726|58.59%

ANKRD60
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 46651510241455_annotated 20 rs584855
dbSNP Clinvar 		56793706 2139.77 G A PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.67652 0.67650 0.21397 0.04 0.39 None None None None None None ANKRD60|0.001529196|92.64%
View 46651510241455_annotated 20 rs1192514
dbSNP Clinvar 		56803353 2052.77 C T PASS 0/1 161 SYNONYMOUS_CODING LOW None 0.32728 0.32730 0.27661 None None None None None None ANKRD60|0.001529196|92.64%
View 46651510241455_annotated 20 rs1192511
dbSNP Clinvar 		56793764 1303.77 G A PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.67672 0.67670 0.21397 None None None None None None ANKRD60|0.001529196|92.64%

APCDD1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 46651510241455_annotated 20 rs1980576
dbSNP Clinvar 		57045667 1100.77 T C PASS 0/1 111 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45986 0.45990 0.43048 None None None None None None APCDD1L|0.016982669|75.86%
View 46651510241455_annotated 20 rs147052922
dbSNP Clinvar 		57035940 1170.77 G A PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.00138 0.68 0.00 None None None None None None APCDD1L|0.016982669|75.86%
View 46651510241455_annotated 20 rs3946003
dbSNP Clinvar 		57045765 327.77 A G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.46086 0.46090 0.40602 1.00 0.00 None None None None None None APCDD1L|0.016982669|75.86%

ARFGAP1
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 46651510241455_annotated 20 rs375949969
dbSNP Clinvar 		61917520 1718.77 T C PASS 0/1 142 None None None None None None None None None ARFGAP1|0.038035061|66.43%

ARFGEF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 46651510241455_annotated 20 rs2295580
dbSNP Clinvar 		47626847 2058.77 T C PASS 0/1 216 SYNONYMOUS_CODING LOW None 0.35423 0.35420 0.40389 None None None None None None ARFGEF2|0.303924468|27.35%
View 46651510241455_annotated 20 rs2281582
dbSNP Clinvar 		47630449 1498.77 C T PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.20847 0.20850 0.11303 None None None None None None ARFGEF2|0.303924468|27.35%

ARFRP1
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 46651510241455_annotated 20 rs367993153,rs386394225
dbSNP Clinvar 		62332638 2097.73 A AC PASS 1/1 61 None None None 0.73642 0.73640 0.16151 None None None None None None ARFRP1|0.101604996|50.84%

ARHGAP40
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 46651510241455_annotated 20 rs6070809
dbSNP Clinvar 		37257590 594.77 C G PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.36597 None None None None None None ARHGAP40|0.014368541|77.58%

ASXL1
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 46651510241455_annotated 20 rs6058694
dbSNP Clinvar 		31022959 3093.77 T C PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00008 0.28 0.00 None None None None None None ASXL1|0.399812505|20.78%
View 46651510241455_annotated 20 rs4911231
dbSNP Clinvar 		31024274 2226.77 T C PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.40575 0.40580 0.32008 None None None None None None ASXL1|0.399812505|20.78%

ATP9A
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 46651510241455_annotated 20 rs2255342
dbSNP Clinvar 		50287790 9717.77 A G PASS 1/1 330 SYNONYMOUS_CODING LOW None 0.70407 0.70410 0.26749 None None None None None None ATP9A|0.17091233|40.18%
View 46651510241455_annotated 20 rs2255341
dbSNP Clinvar 		50287736 9445.77 C T PASS 1/1 315 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.46555 None None None None None None ATP9A|0.17091233|40.18%

ATRN
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 46651510241455_annotated 20 rs235540
dbSNP Clinvar 		3564672 2985.77 C T PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.82448 0.82450 0.26895 None None None None None None ATRN|0.348885303|24.22%
View 46651510241455_annotated 20 rs144351024
dbSNP Clinvar 		3553472 1775.77 G A PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00008 0.54 0.00 None None None None None None ATRN|0.348885303|24.22%

AURKA
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 46651510241455_annotated 20 rs2273535
dbSNP Clinvar 		54961541 4141.77 A T PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.30970 0.30970 0.18822 0.43 0.00 None None None None None None AURKA|0.191109207|37.7%

B4GALT5
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 46651510241455_annotated 20 rs2235855
dbSNP Clinvar 		48259034 2022.77 A G PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.44669 0.44670 0.47709 None None None None None None B4GALT5|0.192081933|37.58%
View 46651510241455_annotated 20 rs200685629
dbSNP Clinvar 		48330210 142.77 C T PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.01518 0.01518 None None None None None None B4GALT5|0.192081933|37.58%
View 46651510241455_annotated 20 rs421801
dbSNP Clinvar 		48257149 4913.77 C T PASS 1/1 161 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.18976 None None None None None None B4GALT5|0.192081933|37.58%

BCAS1
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 46651510241455_annotated 20 rs394732
dbSNP Clinvar 		52675188 738.77 G T PASS 1/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.57608 0.57610 0.46033 1.00 0.00 None None None None None None BCAS1|0.015654771|76.67%

BFSP1
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 46651510241455_annotated 20 rs6080717
dbSNP Clinvar 		17474791 2496.77 G A PASS 0/1 198 SYNONYMOUS_CODING LOW None 0.20587 0.20590 0.27649 None None None None None None BFSP1|0.019258664|74.54%
View 46651510241455_annotated 20 rs6080718
dbSNP Clinvar 		17474968 3557.77 T C PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.25988 None None None None None None BFSP1|0.019258664|74.54%
View 46651510241455_annotated 20 rs376951420
dbSNP Clinvar 		17474740 1940.77 T C PASS 0/1 194 SYNONYMOUS_CODING LOW None None None None None None None BFSP1|0.019258664|74.54%
View 46651510241455_annotated 20 rs150798461
dbSNP Clinvar 		17475569 1347.77 T C PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.00799 0.00799 0.00031 0.02 0.00 None None None None None None BFSP1|0.019258664|74.54%

BIRC7
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 46651510241455_annotated 20 rs1077019
dbSNP Clinvar 		61870727 2073.77 G C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.24661 0.24660 0.19725 0.65 0.00 None None None None None None BIRC7|0.003576281|87.65%
View 46651510241455_annotated 20 rs6010878
dbSNP Clinvar 		61869607 313.77 C A PASS 1/1 11 None None None 0.66414 0.66410 1.00 0.00 None None None None None None BIRC7|0.003576281|87.65%

BMP2
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 46651510241455_annotated 20 rs235768
dbSNP Clinvar 		6759115 1305.77 A T PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.76677 0.76680 0.27069 0.00 0.98 None None None None None None BMP2|0.997316737|0.64%
View 46651510241455_annotated 20 rs1049007
dbSNP Clinvar 		6751034 3563.77 A G PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.74601 0.74600 0.29174 None None None None None None BMP2|0.997316737|0.64%

BPI
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 46651510241455_annotated 20 rs1341024
dbSNP Clinvar 		36932676 872.77 G C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.43003 None None None None None None BPI|0.001345673|93.63%
View 46651510241455_annotated 20 rs5743509
dbSNP Clinvar 		36940314 131.77 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.05132 0.05132 0.04313 0.20 0.01 None None None None None None BPI|0.001345673|93.63%

BPIFA2
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 46651510241455_annotated 20 rs34968847
dbSNP Clinvar 		31768363 539.77 C T PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.06989 0.06989 0.06489 None None None None None None BPIFA2|0.000061264|99.98%

BPIFA3
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 46651510241455_annotated 20 rs3818222
dbSNP Clinvar 		31812923 2732.77 G A PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.66434 0.66430 0.41673 1.00 0.00 None None None None None None BPIFA3|0.004260948|86.67%

BPIFB1
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 46651510241455_annotated 20 rs1999663
dbSNP Clinvar 		31897554 2330.77 G C PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.67532 0.67530 0.43219 0.61 0.00 None None None None None None BPIFB1|0.002984777|88.67%
View 46651510241455_annotated 20 rs1078761
dbSNP Clinvar 		31876681 2519.77 A G PASS 0/1 218 NON_SYNONYMOUS_CODING MODERATE None 0.33007 0.33010 0.34154 0.09 0.12 None None None None None None BPIFB1|0.002984777|88.67%

BPIFB2
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 46651510241455_annotated 20 rs17124003
dbSNP Clinvar 		31609581 3595.77 C T PASS 1/1 112 SYNONYMOUS_CODING LOW None 0.32029 0.32030 0.33777 None None None None None None BPIFB2|0.006724294|83.8%

BPIFB4
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 46651510241455_annotated 20 rs11696307
dbSNP Clinvar 		31688260 3297.77 C T PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.47264 0.47260 0.40797 0.17 0.00 None None None None None None BPIFB4|0.029100431|69.82%
View 46651510241455_annotated 20 rs2424945
dbSNP Clinvar 		31671663 797.77 T C PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.37919 0.37920 0.41843 None None None None None None BPIFB4|0.029100431|69.82%
View 46651510241455_annotated 20 rs13036385
dbSNP Clinvar 		31671209 1420.77 G C PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.21566 0.21570 0.22713 0.00 0.76 None None None None None None BPIFB4|0.029100431|69.82%
View 46651510241455_annotated 20 rs4339026
dbSNP Clinvar 		31671599 1000.77 A G PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.23323 0.23320 0.24007 0.04 0.35 None None None None None None BPIFB4|0.029100431|69.82%
View 46651510241455_annotated 20 rs2070326
dbSNP Clinvar 		31678534 751.77 T C PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.21765 0.21770 0.21975 None None None None None None BPIFB4|0.029100431|69.82%
View 46651510241455_annotated 20 rs11699009
dbSNP Clinvar 		31688241 3882.77 T C PASS 1/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.51578 0.51580 0.36445 1.00 0.00 None None None None None None BPIFB4|0.029100431|69.82%

C20orf194
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 46651510241455_annotated 20 rs2422864
dbSNP Clinvar 		3285140 2686.77 T C PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.93371 0.93370 0.12173 1.00 0.00 None None None None None None C20orf194|0.217196802|34.71%
View 46651510241455_annotated 20 rs2281504
dbSNP Clinvar 		3275239 234.77 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.08107 0.08107 0.04057 None None None None None None C20orf194|0.217196802|34.71%
View 46651510241455_annotated 20 rs2281496
dbSNP Clinvar 		3235916 1584.77 T C PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.08127 0.08127 0.03386 None None None None None None C20orf194|0.217196802|34.71%
View 46651510241455_annotated 20 rs2254916
dbSNP Clinvar 		3285126 1340.77 A T PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.23607 None None None None None None C20orf194|0.217196802|34.71%

C20orf195
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 46651510241455_annotated 20 rs734750
dbSNP Clinvar 		62187439 4079.77 T C PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.68371 0.68370 0.49354 None None None None None None C20orf195|0.069407522|57.62%
View 46651510241455_annotated 20 rs3746348
dbSNP Clinvar 		62187187 4698.77 T C PASS 1/1 146 SYNONYMOUS_CODING LOW None 0.66314 0.66310 0.46071 None None None None None None C20orf195|0.069407522|57.62%

C20orf201
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 46651510241455_annotated 20 rs532442708
dbSNP Clinvar 		62715267 74.77 C G PASS 0/1 4 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None OPRL1|0.253276549|31.26%,LKAAEAR1|0.00333726|88.03%

C20orf26
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 46651510241455_annotated 20 rs6081901
dbSNP Clinvar 		20144772 1780.77 G A PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.45887 0.45890 0.44403 0.37 0.00 None None None None None None CFAP61|0.103943105|50.42%
View 46651510241455_annotated 20 rs200183
dbSNP Clinvar 		20050397 1035.77 G A PASS 0/1 78 None None None 0.78415 0.78410 0.00 None None None None None None CFAP61|0.103943105|50.42%

C20orf96
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 46651510241455_annotated 20 rs7271033
dbSNP Clinvar 		259969 3643.77 G C PASS 1/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66853 0.66850 0.36299 None None None None None None C20orf96|0.00266282|89.34%
View 46651510241455_annotated 20 rs3827147
dbSNP Clinvar 		256727 648.77 T A PASS 1/1 23 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63518 0.63520 0.34553 1.00 0.00 None None None None None None C20orf96|0.00266282|89.34%
View 46651510241455_annotated 20 rs2277781
dbSNP Clinvar 		257733 2923.77 A G PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.64717 0.64720 0.32424 None None None None None None C20orf96|0.00266282|89.34%
View 46651510241455_annotated 20 rs6035541
dbSNP Clinvar 		259818 3952.77 G A PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.29752 0.29750 0.33185 None None None None None None C20orf96|0.00266282|89.34%

CABLES2
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 46651510241455_annotated 20 rs6089219
dbSNP Clinvar 		60966318 1043.77 G T PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.90256 0.90260 0.05521 1.00 0.00 None None None None None None CABLES2|0.058513615|60.25%

CASS4
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 46651510241455_annotated 20 rs3746626
dbSNP Clinvar 		55033713 4713.77 G A PASS 1/1 145 SYNONYMOUS_CODING LOW None 0.52556 0.52560 0.36025 None None None None None None CASS4|0.007706606|82.84%
View 46651510241455_annotated 20 rs911159
dbSNP Clinvar 		55012318 4279.77 G A PASS 0/1 367 SYNONYMOUS_CODING LOW None 0.13538 0.13540 0.12994 None None None None None None CASS4|0.007706606|82.84%
View 46651510241455_annotated 20 rs2870738
dbSNP Clinvar 		55028167 2927.77 G A PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.26576 None None None None None None CASS4|0.007706606|82.84%
View 46651510241455_annotated 20 rs3746623
dbSNP Clinvar 		55033476 3185.74 C G PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.36191 None None None None None None CASS4|0.007706606|82.84%
View 46651510241455_annotated 20 rs3746624
dbSNP Clinvar 		55033635 7378.77 C T PASS 1/1 173 SYNONYMOUS_CODING LOW None 0.36861 0.36860 0.26019 None None None None None None CASS4|0.007706606|82.84%
View 46651510241455_annotated 20 rs3746625
dbSNP Clinvar 		55033647 7365.77 T C PASS 1/1 166 SYNONYMOUS_CODING LOW None 0.52576 0.52580 0.36160 None None None None None None CASS4|0.007706606|82.84%

CBFA2T2
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 46651510241455_annotated 20 rs3803939
dbSNP Clinvar 		32212690 3452.77 C T PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.66913 0.66910 0.41796 None None None None None None CBFA2T2|0.275255923|29.51%

CD93
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 46651510241455_annotated 20 rs143062108
dbSNP Clinvar 		23065271 1590.77 G A PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00054 0.21 0.00 None None None None None None CD93|0.003918213|87.15%
View 46651510241455_annotated 20 rs200571735
dbSNP Clinvar 		23065997 1039.77 C G PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00008 0.02 0.97 None None None None None None CD93|0.003918213|87.15%
View 46651510241455_annotated 20 rs3746732
dbSNP Clinvar 		23065342 2520.77 A G PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.77975 0.77980 0.24642 None None None None None None CD93|0.003918213|87.15%
View 46651510241455_annotated 20 rs3746731
dbSNP Clinvar 		23065209 2523.77 G A PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.54113 0.54110 0.49908 0.17 0.23 None None None None None None CD93|0.003918213|87.15%

CDC25B
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 46651510241455_annotated 20 rs1056720
dbSNP Clinvar 		3784110 7532.77 C T PASS 1/1 252 SYNONYMOUS_CODING LOW None 0.23003 0.23000 0.20498 None None None None None None CDC25B|0.242518934|32.24%

CDH4
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 46651510241455_annotated 20 rs6142884
dbSNP Clinvar 		60503350 10781.77 A G PASS 1/1 371 NON_SYNONYMOUS_CODING MODERATE None 0.56729 0.56730 0.44802 1.00 0.00 None None None None None None CDH4|0.197684425|36.97%
View 46651510241455_annotated 20 rs78216276
dbSNP Clinvar 		59827596 34.77 T C PASS 0/1 6 SYNONYMOUS_CODING LOW None 0.08307 0.08307 0.02175 None None None None None None CDH4|0.197684425|36.97%
View 46651510241455_annotated 20 rs2427240
dbSNP Clinvar 		60485627 1461.77 C T PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.70487 0.70490 0.17000 None None None None None None CDH4|0.197684425|36.97%

CDK5RAP1
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 46651510241455_annotated 20 rs291700
dbSNP Clinvar 		31981849 4535.77 T C PASS 1/1 155 SYNONYMOUS_CODING LOW None 0.59565 0.59560 0.36552 None None None None None None CDK5RAP1|0.141646377|44.19%

CDS2
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 46651510241455_annotated 20 rs3818196
dbSNP Clinvar 		5166418 640.77 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.05012 0.05012 0.02222 None None None None None None CDS2|0.204079622|36.23%

CEBPB
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 46651510241455_annotated 20 rs4253439
dbSNP Clinvar 		48808011 1114.77 C T PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.36981 0.36980 0.33705 None None None None None None CEBPB|0.637441971|10.54%

CEP250
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 46651510241455_annotated 20 rs2296403
dbSNP Clinvar 		34081351 336.77 A T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.01018 0.01018 0.01 None None None None None None CEP250|0.102943293|50.61%

CHD6
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 46651510241455_annotated 20 rs2235589
dbSNP Clinvar 		40043913 1689.77 C T PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.12899 0.12900 0.04021 None None None None None None CHD6|0.425022636|19.36%
View 46651510241455_annotated 20 rs3746543
dbSNP Clinvar 		40034097 143.77 A G PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.17272 0.17270 0.07535 None None None None None None CHD6|0.425022636|19.36%

CHGB
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 46651510241455_annotated 20 rs6133278
dbSNP Clinvar 		5903223 591.77 G A PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.10344 0.10340 0.01676 0.72 0.00 None None None None None None CHGB|0.023575586|72.37%
View 46651510241455_annotated 20 rs6139873
dbSNP Clinvar 		5903485 713.77 G A PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.03395 0.03395 0.00861 0.05 0.56 None None None None None None CHGB|0.023575586|72.37%
View 46651510241455_annotated 20 rs74621755
dbSNP Clinvar 		5904289 666.77 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.03335 0.03335 0.00854 0.06 0.21 None None None None None None CHGB|0.023575586|72.37%
View 46651510241455_annotated 20 rs236151
dbSNP Clinvar 		5903517 1720.77 A G PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.86861 0.86860 0.20152 0.69 0.00 None None None None None None CHGB|0.023575586|72.37%

CHRNA4
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 46651510241455_annotated 20 rs2229960
dbSNP Clinvar 		61981536 2117.77 A G PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.87081 0.87080 0.14286 None None None None None None CHRNA4|0.164276334|40.99%
View 46651510241455_annotated 20 rs1044394
dbSNP Clinvar 		61982085 12538.77 A G PASS 1/1 389 SYNONYMOUS_CODING LOW None 0.86362 0.86360 0.15670 None None None None None None CHRNA4|0.164276334|40.99%
View 46651510241455_annotated 20 rs2229959
dbSNP Clinvar 		61981554 2828.77 C A PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.73383 0.73380 0.24861 None None None None None None CHRNA4|0.164276334|40.99%
View 46651510241455_annotated 20 rs1044393
dbSNP Clinvar 		61982124 17848.77 A G PASS 1/1 589 SYNONYMOUS_CODING LOW None 0.75719 0.75720 0.23305 None None None None None None CHRNA4|0.164276334|40.99%

CNBD2
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 46651510241455_annotated 20 rs6060750
dbSNP Clinvar 		34596371 555.77 C T PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.30990 0.30990 0.23635 0.08 0.43 None None None None None None CNBD2|0.015554621|76.76%