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+ Genes 224

Genes:
ABCD1, AC002365.1, ACOT9, ACSL4, AIFM1, AKAP17A, AMOT, ARHGAP4, ARHGAP6, ARL13A, ARSD, ARSE, ARSF, ARSH, ASMTL, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATXN3L, AVPR2, BCOR, BCORL1, BEX2, BGN, BRWD3, CA5B, CACNA1F, CCDC160, CCDC22, CD99, CFP, CHM, CITED1, COL4A5, COL4A6, CPXCR1, CSAG1, CSF2RA, CT45A5, CT47B1, CXorf21, CXorf22, CXorf30, CXorf36, CXorf56, CXorf58, CXorf64, CYSLTR1, DCAF8L2, DHRSX, DKC1, DMD, DNASE1L1, DOCK11, DUSP21, EBP, EDA2R, EIF2S3, ELF4, EMD, F9, FAAH2, FAM104B, FAM120C, FAM155B, FANCB, FMR1, FMR1NB, FOXR2, GABRE, GABRQ, GDPD2, GLRA2, GLRA4, GLUD2, GPC4, GPR101, GPR112, GPR174, GPR82, GRIA3, GRPR, GUCY2F, GYG2, H2BFM, H2BFWT, HCFC1, HDHD1, HDX, HEPH, HS6ST2, HUWE1, IGSF1, IRAK1, IRS4, KAL1, KIAA1210, KIF4A, KLHL4, LAMP2, LHFPL1, LONRF3, MAGEA1, MAGEA10, MAGEA11, MAGEA4, MAGEA6, MAGEA8, MAGEB10, MAGEB16, MAGEB2, MAGEB3, MAGEB4, MAGEC2, MAGEC3, MAGED2, MAGIX, MAMLD1, MAOA, MAP3K15, MBTPS2, MCF2, MECP2, MORC4, MPP1, MST4, MTMR1, MXRA5, NAP1L3, NHS, NHSL2, NKAP, NLGN3, NRK, NSDHL, NUDT10, NUDT11, OR13H1, P2RY8, PAGE2, PASD1, PCDH11X, PCSK1N, PHKA1, PIGA, PIM2, PIN4, PIR, PJA1, PLCXD1, PLP1, PLXNB3, PNMA3, POF1B, PPP2R3B, PRICKLE3, PRKX, PRRG1, PRRG3, PTCHD1, RAB40A, RBMX, RGAG4, RIBC1, RP2, RPA4, RPGR, RPL10, RPS4X, SAGE1, SATL1, SHROOM2, SHROOM4, SLC25A43, SLC25A5, SLC35A2, SLC6A8, SLC7A3, SMARCA1, SOWAHD, SOX3, SPANXD, SPANXN5, SPRY3, SSX1, SSX5, SSX7, SYTL4, SYTL5, TAB3, TAF7L, TBC1D25, TCEAL2, TCEAL4, TEX11, TEX13A, TGIF2LX, TIMM17B, TIMP1, TMEM187, TMEM47, TRMT2B, TSPAN6, TXLNG, UBE2NL, UPRT, USP26, USP51, VBP1, VCX2, WDR13, WDR44, XG, XPNPEP2, ZBTB33, ZCCHC5, ZMAT1, ZNF185, ZNF280C, ZNF630, ZNF75D, ZRSR2, ZXDB,

+ Genes associated with diseases 60

Genes at Omim

ABCD1, ACSL4, AIFM1, ARSE, ATP11C, ATP2B3, ATP6AP1, ATP7A, AVPR2, BCOR, BGN, BRWD3, CACNA1F, CCDC22, CHM, COL4A5, COL4A6, CSF2RA, CXorf56, DKC1, DMD, EBP, EIF2S3, EMD, F9, FANCB, FMR1, GLUD2, GPR101, GRIA3, HCFC1, HUWE1, IGSF1, KAL1, KIF4A, LAMP2, MAGED2, MAMLD1, MAOA, MBTPS2, MECP2, NHS, NLGN3, NSDHL, PHKA1, PIGA, PLP1, PTCHD1, RBMX, RP2, RPGR, RPL10, SHROOM4, SLC35A2, SLC6A8, SOX3, SSX1, TEX11, XG, XPNPEP2,
ABCD1 Adrenoleukodystrophy, 300100 (3)
Adrenomyeloneuropathy, adult, 300100 (3)
ACSL4 Mental retardation, X-linked 63, 300387 (3)
AIFM1 Combined oxidative phosphorylation deficiency 6, 300816 (3)
Cowchock syndrome, 310490 (3)
Deafness, X-linked 5, 300614 (3)
ARSE Chondrodysplasia punctata, X-linked recessive, 302950 (3)
ATP11C ?Hemolytic anemia, congenital, X-linked, 301015 (3)
ATP2B3 ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP6AP1 Immunodeficiency 47, 300972 (3)
ATP7A Menkes disease, 309400 (3)
Occipital horn syndrome, 304150 (3)
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
AVPR2 Diabetes insipidus, nephrogenic, 304800 (3)
Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)
BCOR Microphthalmia, syndromic 2, 300166 (3)
BGN Meester-Loeys syndrome, 300989 (3)
Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
CACNA1F Aland Island eye disease, 300600 (3)
Cone-rod dystrophy, X-linked, 3, 300476 (3)
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)
CCDC22 Ritscher-Schinzel syndrome 2, 300963 (3)
CHM Choroideremia, 303100 (3)
COL4A5 Alport syndrome 1, X-linked, 301050 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
CXorf56 ?Mental retardation, X-linked 107, 301013 (3)
DKC1 Dyskeratosis congenita, X-linked, 305000 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
EBP Chondrodysplasia punctata, X-linked dominant, 302960 (3)
MEND syndrome, 300960 (3)
EIF2S3 MEHMO syndrome, 300148 (3)
EMD Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
F9 Hemophilia B, 306900 (3)
{Warfarin sensitivity}, 122700 (3)
Thrombophilia, X-linked, due to factor IX defect, 300807 (3)
{Deep venous thrombosis, protection against}, 300807 (3)
FANCB Fanconi anemia, complementation group B, 300514 (3)
FMR1 Fragile X syndrome, 300624 (3)
Fragile X tremor/ataxia syndrome, 300623 (3)
Premature ovarian failure 1, 311360 (3)
GLUD2 {Parkinson disease, age of onset, modifier}, 168600 (3)
GPR101 Pituitary adenoma 2, GH-secreting, 300943 (3)
GRIA3 Mental retardation, X-linked 94, 300699 (3)
HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
KAL1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
LAMP2 Danon disease, 300257 (3)
MAGED2 Bartter syndrome, type 5, antenatal, transient, 300971 (3)
MAMLD1 Hypospadias 2, X-linked, 300758 (3)
MAOA Brunner syndrome, 300615 (3)
{Antisocial behavior}, 300615 (3)
MBTPS2 IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)
Osteogenesis imperfecta, type XIX, 301014 (3)
?Olmsted syndrome, X-linked, 300918 (3)
MECP2 Encephalopathy, neonatal severe, 300673 (3)
Mental retardation, X-linked syndromic, Lubs type, 300260 (3)
Mental retardation, X-linked, syndromic 13, 300055 (3)
Rett syndrome, 312750 (3)
Rett syndrome, atypical, 312750 (3)
Rett syndrome, preserved speech variant, 312750 (3)
{Autism susceptibility, X-linked 3}, 300496 (3)
NHS Cataract 40, X-linked, 302200 (3)
Nance-Horan syndrome, 302350 (3)
NLGN3 {Asperger syndrome susceptibility, X-linked 1}, 300494 (3)
{Autism susceptibility, X-linked 1}, 300425 (3)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
PHKA1 Muscle glycogenosis, 300559 (3)
PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3)
PLP1 Pelizaeus-Merzbacher disease, 312080 (3)
Spastic paraplegia 2, X-linked, 312920 (3)
PTCHD1 {Autism, susceptibility to, X-linked 4}, 300830 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RP2 Retinitis pigmentosa 2, 312600 (3)
RPGR Cone-rod dystrophy, X-linked, 1, 304020 (3)
Macular degeneration, X-linked atrophic, 300834 (3)
Retinitis pigmentosa 3, 300029 (3)
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
RPL10 Mental retardation, X-linked, syndromic, 35, 300998 (3)
{Autism, susceptibility to, X-linked 5}, 300847 (3)
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC35A2 Congenital disorder of glycosylation, type IIm, 300896 (3)
SLC6A8 Cerebral creatine deficiency syndrome 1, 300352 (3)
SOX3 Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3)
Panhypopituitarism, X-linked, 312000 (3)
SSX1 ?Sarcoma, synovial, 300813 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
XG [Blood group, XG system] (3)
XPNPEP2 {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)

Genes at Clinical Genomics Database

ABCD1, ACSL4, AIFM1, ARSE, ATP2B3, ATP7A, AVPR2, BCOR, BRWD3, CACNA1F, CCDC22, CFP, CHM, COL4A5, COL4A6, CSF2RA, DKC1, DMD, EBP, EMD, F9, FANCB, FMR1, GPR101, GRIA3, HCFC1, HUWE1, IGSF1, KIF4A, LAMP2, MAGED2, MAMLD1, MAOA, MBTPS2, MECP2, NHS, NLGN3, NSDHL, PHKA1, PIGA, PLP1, POF1B, PTCHD1, RBMX, RP2, RPGR, SHROOM4, SLC35A2, SLC6A8, SOX3, TEX11, XG, XPNPEP2,
ABCD1 Adrenoleukodystrophy
ACSL4 Mental retardation, X-linked 63
AIFM1 Deafness, X-linked 5
ARSE Chondrodysplasia punctata 1, X-linked recessive
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
AVPR2 Diabetes insipidus, nephrogenic, X-linked
BCOR Microphthalmia, syndromic 2
Oculofaciocardiodental syndrome
BRWD3 Mental retardation, X-linked 93
CACNA1F Aland Island eye disease
Cone-rod dystrophy, X-linked, 3
Night blindness, congenital stationary, X-linked, type 2A
CCDC22 Ritscher-Schinzel syndrome 2
CFP Properdin deficiency, X-linked
CHM Choiroideremia
COL4A5 Alport syndrome, X-linked
COL4A6 Deafness, X-linked, with cochlear malformation
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
DMD Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
EBP Chondrodysplasia punctata 2, X-linked dominant
Male EBP disorder with neurologic defects (MEND)
EMD Emery-Dreifuss muscular dystrophy 1, X-linked
F9 Hemophilia B
Thrombophilia, X-linked, due to factor IX defect
Warfarin sensitivity
FANCB Fanconi anemia,complementation group B
FMR1 Premature ovarian failure
GPR101 Pituitary adenoma, growth hormone secreting, 2
GRIA3 Mental retardation, X-linked 94
HCFC1 Combined methylmalonic acidemia and hyperhomocysteinemia
HUWE1 Mental retardation, X-linked syndromic, Turner type
IGSF1 Central hypothyroidism and testicular enlargement
KIF4A Mental retardation, X-linked 100
LAMP2 Danon disease
MAGED2 Bartter syndrome type 5, antenatal transient
MAMLD1 Hypospadias 2, X-linked
MAOA Brunner syndrome
MBTPS2 Keratosis follicularis spinulosa decalvans, X-linked
IFAP syndrome with or without BRESHECK syndrome
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
MECP2 Rett syndrome
Encephalopathy, neonatal severe, due to MECP2 mutations
Autism, X-linked 3
Mental retardation, X-lnked syndromic 13
Angelman-like syndrome
Mental retardation, X-linked 79
NHS Nance-Horan syndrome
Cataract 40
NLGN3 Asperger syndrome, X-linked 1
Autism, X-linked 1
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
PHKA1 Glycogen storage disease, type Ixd
PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2
PLP1 Spastic paraplegia-2
Pelizaeus-Merzbacher disease
POF1B Premature ovarian failure 2B
PTCHD1 Autism susceptibility, X-linked 4
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RP2 Retinitis pigmentosa 2
RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC35A2 Congenital disorder of glycosylation, type IIm
SLC6A8 Creatine deficiency syndrome 1
SOX3 Panhypopituitarism, X-linked
TEX11 Spermatogenic failure, X-linked 2
XG XG blood group
XPNPEP2 Angioedema induced by ACE inhibitors, susceptibility to

Genes at HGMD

Summary

Number of Variants: 644
Number of Genes: 224

Export to: CSV
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 042_tsvc_variants X . 153693992 90.09 G T PASS 0/1 120 None None None None None None None None None PLXNA3|0.193609937|37.46%

MECP2
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 042_tsvc_variants X . 153296193 20.92 G T PASS 0/1 33 SYNONYMOUS_CODING LOW None None None None None None None MECP2|0.982603095|1.39%

MAGEA6
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 042_tsvc_variants X rs782517657
dbSNP Clinvar 		151870049 193.79 A G PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.67 None None None None None None MAGEA6|0.001153061|94.7%
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 042_tsvc_variants X rs35830302,rs11415594
dbSNP Clinvar 		50121146 638.8 A AG PASS 1/1 68 None None None 0.00032 None None None None None None None

VCX2
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 042_tsvc_variants X rs41305169
dbSNP Clinvar 		8138182 22.49 A G PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.88 None None None None None None VCX2|0.001383318|93.45%

FMR1NB
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 042_tsvc_variants X rs782812437
dbSNP Clinvar 		147063029 496.38 C T PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.23 0.84 None None None None None None FMR1NB|0.000454015|98.67%

PLCXD1
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 042_tsvc_variants X rs11556996
dbSNP Clinvar 		207362 295.93 C T PASS 0/1 194 SYNONYMOUS_CODING LOW None 0.48800 None None None None None None None
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 042_tsvc_variants X rs5901624,rs397759640
dbSNP Clinvar 		17705850 477.61 C CT PASS 1/1 56 None None None 0.00029 None None None None None None NHS|0.894481224|3.57%

MAP3K15
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 042_tsvc_variants X rs776692322
dbSNP Clinvar 		19390814 914.48 T C PASS 0/1 469 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.02 None None None None None None MAP3K15|0.054956774|61.21%

SHROOM4
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 042_tsvc_variants X rs200860508
dbSNP Clinvar 		50376592 85.31 G A PASS 0/1 70 SYNONYMOUS_CODING LOW None None None None None None None SHROOM4|0.141929943|44.15%
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 042_tsvc_variants X rs5006980
dbSNP Clinvar 		55172371 563.9 C T PASS 0/1 252 None None None None None None None None None FAM104B|0.001440975|93.08%
View 042_tsvc_variants X rs1047069
dbSNP Clinvar 		55172373 1176.65 A G PASS 0/1 252 None None None None None None None None None FAM104B|0.001440975|93.08%

NHS
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 042_tsvc_variants X . 17705920 148.06 C G PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.19 None None None None None None NHS|0.894481224|3.57%

VCX2
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 042_tsvc_variants X rs1058238
dbSNP Clinvar 		8138160 86.76 T C PASS 1/1 9 SYNONYMOUS_CODING LOW None None None None None None None VCX2|0.001383318|93.45%
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 042_tsvc_variants X rs1047059
dbSNP Clinvar 		55172471 1310.86 G A PASS 0/1 268 None None None None None None None None None FAM104B|0.001440975|93.08%
View 042_tsvc_variants X . 129377960 336.96 G A PASS 0/1 111 None None None None None None None None None ZNF280C|0.013902226|77.94%

SMARCA1
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 042_tsvc_variants X . 128602783 142.92 C T PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.40 0.50 None None None None None None SMARCA1|0.562828954|13.26%

CT47B1
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 042_tsvc_variants X rs762182130
dbSNP Clinvar 		120008980 36.46 G C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.70 0.00 None None None None None None CT47B1|0.000279084|99.49%

NKAP
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 042_tsvc_variants X . 119070327 215.05 CG... CG... PASS 0/1 72 FRAME_SHIFT HIGH None None None None None None None NKAP|0.086083542|53.94%

SPANXD
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 042_tsvc_variants X rs1059178
dbSNP Clinvar 		140785741 104.82 A C PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.74 0.00 None None None None None None SPANXD|0.002764303|89.11%

PRRG1
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 042_tsvc_variants X . 37312622 88.22 A AC... PASS 1/2 25 FRAME_SHIFT HIGH None None None None None None None PRRG1|0.35763127|23.62%

SPANXD
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 042_tsvc_variants X rs1059179
dbSNP Clinvar 		140785739 83.49 A C PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.00 None None None None None None SPANXD|0.002764303|89.11%
View 042_tsvc_variants X rs2983592
dbSNP Clinvar 		140785696 72.64 T C PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None SPANXD|0.002764303|89.11%

ACSL4
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 042_tsvc_variants X . 108912295 30.38 G GT PASS 0/1 23 FRAME_SHIFT HIGH None None None None None None None ACSL4|0.504424276|15.6%

RPGR
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 042_tsvc_variants X rs62640587
dbSNP Clinvar 		38163957 152.16 T C PASS 0/1 57 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00010 0.43 0.12 None None None None None None RPGR|0.02837199|70.26%
Omim - GeneCards - NCBI
Options Individual Chr
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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 042_tsvc_variants X rs2933671
dbSNP Clinvar 		140785855 123.36 A G PASS 0/1 76 None None None None None None None None None SPANXD|0.002764303|89.11%

RP2
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 042_tsvc_variants X . 46713343 262.41 C T PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.63 None None None None None None RP2|0.227202192|33.66%
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 042_tsvc_variants X rs535081682
dbSNP Clinvar 		96203885 98.3 C T PASS 0/1 50 None None None None None None None None None DIAPH2|0.871794471|4.17%

PCDH11X
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 042_tsvc_variants X . 91873528 151.97 A T PASS 0/1 30 SYNONYMOUS_CODING LOW None None None None None None None PCDH11X|0.213449585|35.17%
View 042_tsvc_variants X . 91873516 169.83 G C PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.56 None None None None None None PCDH11X|0.213449585|35.17%
View 042_tsvc_variants X . 91873514 165.72 T C PASS 0/1 30 SYNONYMOUS_CODING LOW None None None None None None None PCDH11X|0.213449585|35.17%
View 042_tsvc_variants X rs768994403
dbSNP Clinvar 		91873510 78.57 C T PASS 0/1 28 SYNONYMOUS_CODING LOW None None None None None None None PCDH11X|0.213449585|35.17%

SLC35A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs146079657
dbSNP Clinvar 		48762196 876.17 G A PASS 0/1 336 SYNONYMOUS_CODING LOW None 0.00028 None None None None None None SLC35A2|0.242866258|32.21%

PIM2
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 042_tsvc_variants X rs35044770
dbSNP Clinvar 		48772479 426.81 C T PASS 0/1 232 NON_SYNONYMOUS_CODING MODERATE None 0.00028 0.28 0.00 None None None None None None PIM2|0.234770618|32.95%
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 042_tsvc_variants X rs5006981
dbSNP Clinvar 		55172399 605.5 A T PASS 0/1 259 None None None None None None None None None FAM104B|0.001440975|93.08%

PRICKLE3
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 042_tsvc_variants X . 49034636 121.48 G T PASS 0/1 83 STOP_GAINED HIGH None None None None None None None PRICKLE3|0.03183187|68.68%

VCX2
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 042_tsvc_variants X rs78723459
dbSNP Clinvar 		8138171 81.94 T C PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.00 None None None None None None VCX2|0.001383318|93.45%

NLGN3
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 042_tsvc_variants X . 70368721 19.4 C A PASS 0/1 46 SYNONYMOUS_CODING LOW None None None None None None None NLGN3|0.634479169|10.65%

FAM104B
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 042_tsvc_variants X rs1047054
dbSNP Clinvar 		55172537 1405.9 G A PASS 0/1 267 None None None None None None None None None FAM104B|0.001440975|93.08%
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 042_tsvc_variants X rs5018686
dbSNP Clinvar 		55172431 71.95 A T PASS 0/1 264 None None None None None None None None None FAM104B|0.001440975|93.08%
View 042_tsvc_variants X rs4447651
dbSNP Clinvar 		55172456 493.05 G A PASS 0/1 265 None None None None None None None None None FAM104B|0.001440975|93.08%
View 042_tsvc_variants X rs879113757
dbSNP Clinvar 		55172459 539.86 G T PASS 0/1 264 None None None None None None None None None FAM104B|0.001440975|93.08%

ZMAT1
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 042_tsvc_variants X rs5944882
dbSNP Clinvar 		101138792 1133.28 T C PASS 1/1 118 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ZMAT1|0.014192788|77.73%

WDR13
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 042_tsvc_variants X rs235842
dbSNP Clinvar 		48460314 1918.86 A G PASS 1/1 200 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00019 1.00 0.00 None None None None None None WDR13|0.212864463|35.27%

BCORL1
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 042_tsvc_variants X rs4830173
dbSNP Clinvar 		129147079 1214.19 T C PASS 1/1 134 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None BCORL1|0.202266088|36.48%
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 042_tsvc_variants X rs58044961
dbSNP Clinvar 		122318386 429.34 A AG PASS 1/1 46 None None None 1.00000 1.00000 0.00039 None None None None None None GRIA3|0.935818586|2.64%

FAM120C
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 042_tsvc_variants X rs2495783
dbSNP Clinvar 		54209387 585.26 A G PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None FAM120C|0.175300288|39.59%

NRK
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 042_tsvc_variants X rs209372
dbSNP Clinvar 		105153001 2113.16 A G PASS 1/1 232 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None NRK|0.133592054|45.35%

MAGIX
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 042_tsvc_variants X rs4824462
dbSNP Clinvar 		49022700 187.32 T C PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None MAGIX|0.00315296|88.39%

ATP7A
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 042_tsvc_variants X rs4826245
dbSNP Clinvar 		77298857 664.5 G A PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATP7A|0.267298986|30.07%

CCDC160
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 042_tsvc_variants X rs2428577
dbSNP Clinvar 		133379551 571.3 C T PASS 1/1 60 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CCDC160|0.006302974|84.27%

VBP1
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 042_tsvc_variants X rs572013
dbSNP Clinvar 		154456747 269.11 A G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None VBP1|0.483090305|16.58%
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 042_tsvc_variants X rs1270092
dbSNP Clinvar 		147003564 306.11 T C PASS 1/1 33 None None None 1.00000 1.00000 None None None None None None FMR1|0.940937361|2.45%
View 042_tsvc_variants X rs1543781
dbSNP Clinvar 		153039615 61.39 A G PASS 1/1 7 None None None 1.00000 1.00000 None None None None None None PLXNB3|0.0327359|68.27%

TAB3
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 042_tsvc_variants X rs5927629
dbSNP Clinvar 		30872602 1152.12 A G PASS 1/1 123 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00019 1.00 0.00 None None None None None None TAB3|0.49919516|15.86%

MAGIX
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 042_tsvc_variants X rs5905720
dbSNP Clinvar 		49021537 1721.06 G C PASS 1/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.99974 0.99970 0.00110 1.00 0.00 None None None None None None MAGIX|0.00315296|88.39%
View 042_tsvc_variants X rs5906744
dbSNP Clinvar 		49021256 940.78 A G PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.99974 0.99970 0.00120 0.93 0.00 None None None None None None MAGIX|0.00315296|88.39%
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 042_tsvc_variants X rs77485258,rs5904376
dbSNP Clinvar 		153178459 637.15 G GC PASS 1/1 72 None None None 0.99974 0.99970 0.00148 None None None None None None ARHGAP4|0.028368935|70.27%
View 042_tsvc_variants X rs56689668
dbSNP Clinvar 		153170980 674.19 T G PASS 1/1 76 None None None 0.99921 0.99920 None None None None None None L1CAM|0.504864866|15.59%,AVPR2|0.577522936|12.7%
View 042_tsvc_variants X rs798169
dbSNP Clinvar 		15863953 622.64 A T PASS 1/1 82 None None None 0.99894 0.99890 None None None None None None AP1S2|0.649662017|10.13%
View 042_tsvc_variants X rs727079
dbSNP Clinvar 		47920356 1041.5 A G PASS 1/1 110 None None None 0.99868 0.99870 0.00370 None None None None None None ZNF630|0.00523437|85.53%
View 042_tsvc_variants X rs926563
dbSNP Clinvar 		138724725 547.13 G A PASS 1/1 60 None None None 0.99841 0.99840 None None None None None None MCF2|0.187938823|38.06%
View 042_tsvc_variants X rs1476011
dbSNP Clinvar 		100105008 1289.68 T C PASS 1/1 133 None None None 0.99841 0.99840 None None None None None None NOX1|0.219857423|34.43%
View 042_tsvc_variants X rs58601634,rs397788876
dbSNP Clinvar 		79999796 138.27 T TCAC PASS 1/1 17 None None None 0.99788 0.99790 0.00817 None None None None None None BRWD3|0.286279937|28.63%
View 042_tsvc_variants X rs1191948
dbSNP Clinvar 		67412906 1301.32 G A PASS 1/1 136 None None None 0.99762 0.99760 None None None None None None OPHN1|0.210927262|35.46%
View 042_tsvc_variants X rs2495797
dbSNP Clinvar 		54117740 943.43 C A PASS 1/1 101 None None None 0.99709 0.99710 0.00445 None None None None None None FAM120C|0.175300288|39.59%
View 042_tsvc_variants X rs2515830
dbSNP Clinvar 		151899760 423.66 A G PASS 1/1 45 None None None 0.99656 0.99660 None None None None None None MAGEA12|0.001491193|92.81%
View 042_tsvc_variants X rs4469660
dbSNP Clinvar 		12722616 243.18 C G PASS 1/1 26 None None None 0.99523 0.99520 0.00521 None None None None None None FRMPD4|0.326594938|25.72%

KIF4A
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 042_tsvc_variants X rs1199470
dbSNP Clinvar 		69510335 1074.65 C T PASS 1/1 113 SYNONYMOUS_CODING LOW None 0.99523 0.99520 0.00682 None None None None None None PDZD11|0.466429053|17.34%,KIF4A|0.433464236|19.01%

HUWE1
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 042_tsvc_variants X rs426298
dbSNP Clinvar 		53563589 860.06 A G PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.99497 0.99500 0.00805 None None None None None None HUWE1|0.636259624|10.58%

TAF7L
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 042_tsvc_variants X rs5951328
dbSNP Clinvar 		100547933 1062.17 A G PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.99497 0.99500 0.00833 0.52 0.00 None None None None None None TAF7L|0.010122463|80.76%

DKC1
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 042_tsvc_variants X rs2728532
dbSNP Clinvar 		153994596 1064.79 G T PASS 1/1 112 SYNONYMOUS_CODING LOW None 0.99258 0.99260 0.00814 None None None None None None DKC1|0.779908958|6.32%

ATP11C
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 042_tsvc_variants X rs2491014
dbSNP Clinvar 		138897130 519.79 A C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.99205 0.99210 0.01516 1.00 0.00 None None None None None None ATP11C|0.389494809|21.44%

BRWD3
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 042_tsvc_variants X rs3122407
dbSNP Clinvar 		79943569 673.7 T C PASS 1/1 75 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None BRWD3|0.286279937|28.63%
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 042_tsvc_variants X rs2227090
dbSNP Clinvar 		84534383 512.92 A C PASS 1/1 66 None None None 0.98861 0.98860 0.00588 None None None None None None POF1B|0.213318346|35.19%

GLRA4
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 042_tsvc_variants X rs4907817
dbSNP Clinvar 		102979486 484.83 T C PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.98676 0.98680 0.03499 0.40 0.02 None None None None None None GLRA4|0.424767211|19.36%
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 042_tsvc_variants X rs5945165
dbSNP Clinvar 		153062772 1380.08 T C PASS 1/1 146 None None None 0.98676 0.98680 None None None None None None SSR4|0.231445563|33.25%

ATP2B3
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 042_tsvc_variants X rs3020949
dbSNP Clinvar 		152815089 1054.47 A G PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.98543 0.98540 0.01051 None None None None None None ATP2B3|0.203946244|36.25%
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 042_tsvc_variants X rs1264008
dbSNP Clinvar 		53436232 2128.67 G T PASS 1/1 232 None None None 0.98543 0.98540 0.03939 None None None None None None SMC1A|0.539151883|14.23%

COL4A6
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 042_tsvc_variants X rs4623610
dbSNP Clinvar 		107418906 266.74 A G PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%
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 042_tsvc_variants X rs1264215
dbSNP Clinvar 		65420609 318.16 A G PASS 1/1 38 None None None 0.98358 0.98360 0.04487 None None None None None None HEPH|0.080329009|55.09%
View 042_tsvc_variants X rs2806837
dbSNP Clinvar 		52825471 856.19 A G PASS 1/1 92 None None None 0.98066 0.98070 None None None None None None SPANXN5|0.001379542|93.47%

SPANXN5
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 042_tsvc_variants X rs2806838
dbSNP Clinvar 		52825546 810.61 C G PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.97934 0.97930 0.02670 None None None None None None SPANXN5|0.001379542|93.47%
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 042_tsvc_variants X rs2881142
dbSNP Clinvar 		107415825 1607.23 T C PASS 1/1 171 None None None 0.97907 0.97910 0.02417 None None None None None None COL4A6|0.130757642|45.78%

TEX11
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 042_tsvc_variants X rs4844240
dbSNP Clinvar 		69774517 210.67 A T PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.97642 0.97640 0.02073 None None None None None None TEX11|0.015005078|77.12%

MAGEA10
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 042_tsvc_variants X rs210586
dbSNP Clinvar 		151303393 1624.66 C T PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.97431 0.97430 0.02613 1.00 0.00 None None None None None None MAGEA10|0.000454799|98.66%

IGSF1
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 042_tsvc_variants X rs4495600
dbSNP Clinvar 		130420415 496.01 T C PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.97351 0.97350 0.02850 None None None None None None IGSF1|0.217194784|34.71%
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 042_tsvc_variants X rs1152194
dbSNP Clinvar 		69459945 1807.46 C T PASS 1/1 203 None None None 0.96768 0.96770 0.06959 None None None None None None AWAT1|0.058783311|60.2%

XG
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 042_tsvc_variants X rs3749988
dbSNP Clinvar 		2724760 632.0 T C PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.96503 0.96500 0.05029 0.32 0.00 None None None None None None XG|0.001578916|92.42%
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 042_tsvc_variants X rs5939132
dbSNP Clinvar 		2774478 953.11 A G PASS 1/1 99 None None None 0.96371 0.96370 None None None None None None GYG2|0.001763876|91.62%
View 042_tsvc_variants X rs1890584
dbSNP Clinvar 		134654818 708.27 T C PASS 1/1 56 None None None 0.95921 0.95920 None None None None None None DDX26B|0.282087688|28.95%
View 042_tsvc_variants X rs5910616
dbSNP Clinvar 		118699320 1397.32 A G PASS 1/1 146 None None None 0.95523 0.95520 0.09893 None None None None None None CXorf56|0.412595461|20.01%

MAGEA10
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 042_tsvc_variants X rs210585
dbSNP Clinvar 		151303596 1031.98 C T PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.94914 0.94910 0.06438 1.00 0.01 None None None None None None MAGEA10|0.000454799|98.66%

GUCY2F
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 042_tsvc_variants X rs502209
dbSNP Clinvar 		108708516 497.84 C T PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.94861 0.94860 0.11607 0.62 0.00 None None None None None None GUCY2F|0.157201193|42.01%

IGSF1
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 042_tsvc_variants X rs5930458
dbSNP Clinvar 		130420006 719.35 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.94464 0.94460 0.06324 None None None None None None IGSF1|0.217194784|34.71%
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 042_tsvc_variants X rs4830221
dbSNP Clinvar 		130419646 734.17 A G PASS 1/1 81 None None None 0.94331 0.94330 None None None None None None IGSF1|0.217194784|34.71%
View 042_tsvc_variants X rs2094702
dbSNP Clinvar 		138811003 296.8 G A PASS 1/1 32 None None None 0.93589 0.93590 0.06194 None None None None None None ATP11C|0.389494809|21.44%

KIAA1210
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 042_tsvc_variants X rs5910522
dbSNP Clinvar 		118281538 1190.32 C A PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.93404 0.93400 0.07565 0.36 0.00 None None None None None None KIAA1210|0.000369314|99.15%

PAGE2
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 042_tsvc_variants X rs1845444
dbSNP Clinvar 		55116466 1432.01 C G PASS 1/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.93351 0.93350 0.07636 1.00 0.00 None None None None None None PAGE2|0.000820462|96.53%

SYTL4
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 042_tsvc_variants X rs2022039
dbSNP Clinvar 		99941705 1241.16 T C PASS 1/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.93272 0.93270 0.08606 0.57 0.00 None None None None None None SYTL4|0.299867046|27.68%