+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 200

+ Genes associated with diseases 46

Genes at Omim

AIFM1, AMELX, ATP11C, ATP2B3, ATP7A, ATRX, BCOR, BGN, BRWD3, CHRDL1, COL4A6, CSF2RA, DKC1, DMD, EIF2S3, FLNA, FOXP3, G6PD, GRIA3, HCFC1, HUWE1, IGSF1, KDM6A, KIF4A, LAMP2, MAGED2, MAOA, NHS, NSDHL, PCDH19, PDHA1, PHKA1, POU3F4, PTCHD1, RBMX, RLIM, RPGR, RPL10, SHROOM4, SLC9A6, SYN1, TEX11, TFE3, UBA1, XG, XIAP,
AIFM1 Combined oxidative phosphorylation deficiency 6, 300816 (3)
Cowchock syndrome, 310490 (3)
Deafness, X-linked 5, 300614 (3)
AMELX Amelogenesis imperfecta, type 1E, 301200 (3)
ATP11C ?Hemolytic anemia, congenital, X-linked, 301015 (3)
ATP2B3 ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP7A Menkes disease, 309400 (3)
Occipital horn syndrome, 304150 (3)
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
ATRX Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)
Alpha-thalassemia/mental retardation syndrome, 301040 (3)
Mental retardation-hypotonic facies syndrome, X-linked, 309580 (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)
CHRDL1 Megalocornea 1, X-linked 309300 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
DKC1 Dyskeratosis congenita, X-linked, 305000 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
EIF2S3 MEHMO syndrome, 300148 (3)
FLNA Frontometaphyseal dysplasia 1, 305620 (3)
Cardiac valvular dysplasia, X-linked, 314400 (3)
Heterotopia, periventricular, 1, 300049 (3)
Congenital short bowel syndrome, 300048 (3)
Intestinal pseudoobstruction, neuronal, 300048 (3)
Melnick-Needles syndrome, 309350 (3)
?FG syndrome 2, 300321 (3)
Otopalatodigital syndrome, type I, 311300 (3)
Otopalatodigital syndrome, type II, 304120 (3)
Terminal osseous dysplasia, 300244 (3)
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
{Diabetes mellitus, type I, susceptibility to}, 222100 (3)
G6PD Hemolytic anemia, G6PD deficient (favism), 300908 (3)
{Resistance to malaria due to G6PD deficiency}, 611162 (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)
KDM6A Kabuki syndrome 2, 300867 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
LAMP2 Danon disease, 300257 (3)
MAGED2 Bartter syndrome, type 5, antenatal, transient, 300971 (3)
MAOA Brunner syndrome, 300615 (3)
{Antisocial behavior}, 300615 (3)
NHS Cataract 40, X-linked, 302200 (3)
Nance-Horan syndrome, 302350 (3)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
PCDH19 Epileptic encephalopathy, early infantile, 9, 300088 (3)
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
PHKA1 Muscle glycogenosis, 300559 (3)
POU3F4 Deafness, X-linked 2, 304400 (3)
PTCHD1 {Autism, susceptibility to, X-linked 4}, 300830 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RLIM Tonne-Kalscheuer syndrome, 300978 (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)
SLC9A6 Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
TFE3 Renal cell carcinoma, papillary, 1, 300854 (3)
UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
XG [Blood group, XG system] (3)
XIAP Lymphoproliferative syndrome, X-linked, 2, 300635 (3)

Genes at Clinical Genomics Database

AIFM1, AMELX, ATP2B3, ATP7A, ATRX, BCOR, BRWD3, CFP, CHRDL1, COL4A6, CSF2RA, DKC1, DMD, FLNA, FOXP3, G6PD, GRIA3, HCFC1, HUWE1, IGSF1, KDM6A, KIF4A, LAMP2, MAGED2, MAOA, NHS, NSDHL, PCDH19, PDHA1, PHKA1, POF1B, POU3F4, PTCHD1, RBMX, RPGR, SERPINA7, SHROOM4, SLC9A6, SYN1, TENM1, TEX11, UBA1, XG, XIAP,
AIFM1 Deafness, X-linked 5
AMELX Amelogenesis imperfecta, type 1E
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
ATRX Mental retardation-hypotonic facies syndrome, X-linked
Juberg-Marsidi syndrome
Carpenter-Waziri syndrome
Holmes-Gang syndrome
Smith-Fineman-Myers syndrome
Alpha-thalassemia/mental retardation syndrome
BCOR Microphthalmia, syndromic 2
Oculofaciocardiodental syndrome
BRWD3 Mental retardation, X-linked 93
CFP Properdin deficiency, X-linked
CHRDL1 Megalocornea 1, 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
FLNA Cardiac valvular dysplasia, X-linked
Heterotopia, periventricular, Ehlers-Danlos variant
Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
G6PD Glucose-6-phosphate dehydrogenase deficiency
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
KDM6A Kabuki syndrome 2
KIF4A Mental retardation, X-linked 100
LAMP2 Danon disease
MAGED2 Bartter syndrome type 5, antenatal transient
MAOA Brunner syndrome
NHS Nance-Horan syndrome
Cataract 40
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
PCDH19 Epileptic encephalopathy, early infantile, 9
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
PHKA1 Glycogen storage disease, type Ixd
POF1B Premature ovarian failure 2B
POU3F4 Deafness, X-linked 2
PTCHD1 Autism susceptibility, X-linked 4
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
SERPINA7 Thyroxine-binding globulin deficiency
Thyroxine-binding globulin excess
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
TENM1 Microphthalmia, isolated, with coloboma 9
TEX11 Spermatogenic failure, X-linked 2
UBA1 Spinal muscular atrophy, X-linked 2, infantile
XG XG blood group
XIAP Lymphoproliferative syndrome, X-linked, 2

Genes at HGMD

Summary

Number of Variants: 2030
Number of Genes: 200

Export to: CSV

PLCXD1
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 gordonsepilepsy normalized 2076 X rs9785927
dbSNP Clinvar 		200860 2738.92 T C . 0/1 35 SYNONYMOUS_CODING LOW None 0.75719 0.75720 0.20111 None None None None None None None
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 gordonsepilepsy normalized 2076 X rs6644980
dbSNP Clinvar 		205373 5673.92 A G . 0/1 29 None None None 0.49301 0.49300 0.46246 None None None None None None None

PLCXD1
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 gordonsepilepsy normalized 2076 X rs11556996
dbSNP Clinvar 		207362 2223.72 C T . 0/1 18 SYNONYMOUS_CODING LOW None 0.48800 None None None None None None None
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 gordonsepilepsy normalized 2076 X rs6603167
dbSNP Clinvar 		207451 2980.92 C T . 0/1 17 None None None 0.41574 0.41570 0.47553 None None None None None None None
View gordonsepilepsy normalized 2076 X rs9551
dbSNP Clinvar 		221705 2736.92 G A . 0/1 15 None None None 0.24980 0.24980 0.29757 None None None None None None GTPBP6|0.003668889|87.5%
View gordonsepilepsy normalized 2076 X rs9635652
dbSNP Clinvar 		228329 714.76 T C . 0/1 12 None None None 0.24181 0.24180 0.25027 None None None None None None GTPBP6|0.003668889|87.5%
View gordonsepilepsy normalized 2076 X rs112519009
dbSNP Clinvar 		229645 850.87 T A . 1/1 10 None None None 0.55591 0.55590 None None None None None None GTPBP6|0.003668889|87.5%
View gordonsepilepsy normalized 2076 X rs9635647
dbSNP Clinvar 		231031 634.77 C G . 1/1 3 None None None 0.63658 0.63660 None None None None None None None
View gordonsepilepsy normalized 2076 X rs1133535
dbSNP Clinvar 		295069 220.96 A G . 1/1 3 None None None 0.50160 0.50160 0.38845 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs14127
dbSNP Clinvar 		295097 293.19 C T . 1/1 3 None None None 0.22145 0.22140 0.24849 None None None None None None PPP2R3B|0.002842027|88.95%

PPP2R3B
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 gordonsepilepsy normalized 2076 X rs1133530
dbSNP Clinvar 		295132 438.92 T C . 1/1 3 SYNONYMOUS_CODING LOW None 0.54213 0.54210 0.46757 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs1133523
dbSNP Clinvar 		295231 829.03 A G . 1/1 2 SYNONYMOUS_CODING LOW None 0.55431 0.55430 0.46355 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs1133520
dbSNP Clinvar 		299360 855.9 G A . 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.20827 0.20830 0.24725 0.07 0.01 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs2738376
dbSNP Clinvar 		299362 2924.7 A G . 1/1 6 SYNONYMOUS_CODING LOW None 0.87939 0.87940 0.12341 None None None None None None PPP2R3B|0.002842027|88.95%
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 gordonsepilepsy normalized 2076 X rs2738375
dbSNP Clinvar 		299481 4610.68 C A . 1/1 13 None None None 0.73742 0.73740 0.25719 None None None None None None PPP2R3B|0.002842027|88.95%

PPP2R3B
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 gordonsepilepsy normalized 2076 X rs2738373
dbSNP Clinvar 		299591 7199.68 A G . 1/1 18 SYNONYMOUS_CODING LOW None 0.86482 0.86480 0.13671 None None None None None None PPP2R3B|0.002842027|88.95%
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 gordonsepilepsy normalized 2076 X rs6655399
dbSNP Clinvar 		299635 2053.7 C T . 1/1 19 None None None 0.22125 0.22120 0.26503 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X . 300007 362.54 C CGGG . 1/1 2 None None None None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs73178007
dbSNP Clinvar 		301454 412.43 G A . 0/1 16 None None None 0.27610 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs2738366
dbSNP Clinvar 		301742 2857.68 A G . 1/1 10 None None None 0.04533 0.71750 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs2738365
dbSNP Clinvar 		301774 2360.7 G C . 1/1 13 None None None 0.76418 0.76420 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs111876222
dbSNP Clinvar 		301796 811.81 G A . 1/1 13 None None None 0.22244 0.22240 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs747341405,rs58881479
dbSNP Clinvar 		301845 1131.59 CG... C . 1/1 9 None None None None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs6645142
dbSNP Clinvar 		301992 4580.7 G A . 1/1 67 None None None 0.31989 0.31990 0.31460 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs2738364
dbSNP Clinvar 		302139 22426.7 G C . 1/1 92 None None None 0.79992 0.79990 0.18462 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs775033622
dbSNP Clinvar 		302242 896.92 T TC... . 0/1 11 None None None None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs2738362
dbSNP Clinvar 		302423 914.19 T C . 1/1 6 None None None 0.74062 0.74060 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs111701063,rs35670106
dbSNP Clinvar 		302444 517.32 AC A . 1/1 9 None None None 0.32210 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs6603234
dbSNP Clinvar 		302533 2023.7 A G . 1/1 22 None None None 0.34764 0.34760 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs2738354
dbSNP Clinvar 		307377 1175.79 C T . 1/1 4 None None None 0.70986 0.70990 0.27424 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs752920584
dbSNP Clinvar 		307888 3368.68 CG... C . 1/1 14 None None None 0.60583 0.60580 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs6603251
dbSNP Clinvar 		320580 7321.92 T C . 0/1 24 None None None 0.68730 0.68730 0.27660 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs3813595
dbSNP Clinvar 		322066 605.24 A T . 1/1 2 None None None 0.60324 0.60320 None None None None None None PPP2R3B|0.002842027|88.95%

PPP2R3B
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 gordonsepilepsy normalized 2076 X rs3813594
dbSNP Clinvar 		322161 2955.92 A G . 0/1 14 SYNONYMOUS_CODING LOW None 0.60324 0.60320 0.37483 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs17855192
dbSNP Clinvar 		322257 3702.92 G A . 0/1 17 SYNONYMOUS_CODING LOW None 0.23822 0.23820 0.30080 None None None None None None PPP2R3B|0.002842027|88.95%
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 gordonsepilepsy normalized 2076 X rs28713649
dbSNP Clinvar 		322386 1682.92 C T . 0/1 18 None None None 0.23822 0.23820 None None None None None None PPP2R3B|0.002842027|88.95%
View gordonsepilepsy normalized 2076 X rs28665862
dbSNP Clinvar 		377044 45.38 C T . 0/1 8 None None None 0.19948 0.19950 None None None None None None None
View gordonsepilepsy normalized 2076 X rs62586561
dbSNP Clinvar 		398017 408.24 A G . 1/1 4 None None None 0.60503 0.60500 None None None None None None None
View gordonsepilepsy normalized 2076 X rs367579549
dbSNP Clinvar 		398025 429.47 G GAT . 1/1 4 None None None 0.60503 0.60500 None None None None None None None
View gordonsepilepsy normalized 2076 X rs5950734
dbSNP Clinvar 		484552 708.0 C T . 1/1 2 None None None 0.56669 0.56670 None None None None None None None
View gordonsepilepsy normalized 2076 X rs111782655
dbSNP Clinvar 		506026 284.82 C T . 0/1 17 None None None 0.05351 0.05351 None None None None None None None
View gordonsepilepsy normalized 2076 X rs111065997
dbSNP Clinvar 		545434 1413.8 A G . 1/1 3 None None None 0.92153 0.92150 None None None None None None None
View gordonsepilepsy normalized 2076 X rs111221458
dbSNP Clinvar 		545706 672.24 G A . 0/1 3 None None None 0.15375 0.15380 None None None None None None None
View gordonsepilepsy normalized 2076 X rs118144258
dbSNP Clinvar 		585869 932.78 T C . 1/1 2 None None None 0.54832 0.54830 None None None None None None SHOX|0.016751874|76.05%
View gordonsepilepsy normalized 2076 X rs2239402
dbSNP Clinvar 		591926 9027.68 T G . 1/1 41 None None None 0.95867 0.95870 0.03275 None None None None None None SHOX|0.016751874|76.05%
View gordonsepilepsy normalized 2076 X rs371037296
dbSNP Clinvar 		669029 78.74 C T . 1/1 2 None None None None None None None None None None
View gordonsepilepsy normalized 2076 X rs7357937
dbSNP Clinvar 		669037 385.42 T C . 1/1 1 None None None None None None None None None None
View gordonsepilepsy normalized 2076 X rs572462477
dbSNP Clinvar 		669043 267.32 T C . 1/1 1 None None None None None None None None None None
View gordonsepilepsy normalized 2076 X rs55888313
dbSNP Clinvar 		802882 303.92 G T . 0/1 14 None None None 0.18690 0.18690 None None None None None None None
View gordonsepilepsy normalized 2076 X rs4328013
dbSNP Clinvar 		803006 181.89 C T . 1/1 4 None None None 0.64856 0.64860 None None None None None None None
View gordonsepilepsy normalized 2076 X rs73180414
dbSNP Clinvar 		803646 272.92 C T . 0/1 9 None None None 0.18910 0.18910 None None None None None None None
View gordonsepilepsy normalized 2076 X rs73180415
dbSNP Clinvar 		803651 306.92 A C . 0/1 9 None None None 0.18970 0.18970 None None None None None None None
View gordonsepilepsy normalized 2076 X rs5946324
dbSNP Clinvar 		804100 201.38 G C . 0/1 11 None None None 0.18970 0.18970 None None None None None None None
View gordonsepilepsy normalized 2076 X rs5946497
dbSNP Clinvar 		804123 136.38 C T . 0/1 10 None None None 0.19988 0.19990 None None None None None None None
View gordonsepilepsy normalized 2076 X rs202188011,rs58804636
dbSNP Clinvar 		815734 606.03 C CCTTT . 1/1 2 None None None 0.83087 0.83090 None None None None None None None
View gordonsepilepsy normalized 2076 X rs201755401,rs374100338
dbSNP Clinvar 		815884 122.23 CTCTT C . 0/1 5 None None None None None None None None None None
View gordonsepilepsy normalized 2076 X rs202001403
dbSNP Clinvar 		859986 468.36 TT... T . 1/1 4 None None None 0.56090 0.56090 None None None None None None None
View gordonsepilepsy normalized 2076 X rs182226152
dbSNP Clinvar 		860182 470.25 C T . 1/1 7 None None None 0.34665 0.34660 None None None None None None None
View gordonsepilepsy normalized 2076 X rs201585871
dbSNP Clinvar 		860214 98.82 CCTT C . 1/1 3 None None None None None None None None None None
View gordonsepilepsy normalized 2076 X . 860217 252.66 TT... * . 1/1 3 None None None None None None None None None None
View gordonsepilepsy normalized 2076 X rs80204166
dbSNP Clinvar 		930084 52.38 G A . 1/1 1 None None None 0.00020 0.00020 None None None None None None None
View gordonsepilepsy normalized 2076 X rs35380974
dbSNP Clinvar 		964959 159.71 TA T . 1/1 3 None None None 0.23003 0.23000 None None None None None None None
View gordonsepilepsy normalized 2076 X rs373843598
dbSNP Clinvar 		965130 59.77 CCT C . 1/1 2 None None None None None None None None None None
View gordonsepilepsy normalized 2076 X rs868977682
dbSNP Clinvar 		965136 59.76 T C . 1/1 2 None None None None None None None None None None
View gordonsepilepsy normalized 2076 X rs4564058
dbSNP Clinvar 		970046 2134.92 C T . 1/1 14 None None None 0.96366 0.96370 None None None None None None None
View gordonsepilepsy normalized 2076 X rs5988324
dbSNP Clinvar 		970843 1923.69 A G . 1/1 9 None None None 0.96665 0.96670 None None None None None None None
View gordonsepilepsy normalized 2076 X rs73189990
dbSNP Clinvar 		988717 173.51 G C . 1/1 3 None None None 0.74501 0.74500 None None None None None None None
View gordonsepilepsy normalized 2076 X rs62605908
dbSNP Clinvar 		1314764 1100.56 T G . 0/1 9 None None None 0.92213 0.92210 None None None None None None None
View gordonsepilepsy normalized 2076 X rs9803466
dbSNP Clinvar 		1315104 559.92 G C . 0/1 42 None None None 0.34924 0.34920 None None None None None None CRLF2|0.001160822|94.64%
View gordonsepilepsy normalized 2076 X rs9778721
dbSNP Clinvar 		1317404 2884.92 T C . 0/1 87 None None None 0.50779 0.50780 0.44845 None None None None None None CRLF2|0.001160822|94.64%
View gordonsepilepsy normalized 2076 X rs113055666
dbSNP Clinvar 		1331332 261.88 G A . 0/1 10 None None None None None None None None None CRLF2|0.001160822|94.64%
View gordonsepilepsy normalized 2076 X rs28652662
dbSNP Clinvar 		1407101 129.73 A G . 1/1 2 None None None 0.55851 0.55850 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs28402135
dbSNP Clinvar 		1407139 82.89 C G . 1/1 3 None None None 0.54193 0.54190 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs34442542
dbSNP Clinvar 		1407273 1015.93 G A . 0/1 26 None None None 0.23902 0.23900 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs35118829
dbSNP Clinvar 		1407281 1180.83 G A . 0/1 32 None None None 0.44808 0.44810 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs28547475
dbSNP Clinvar 		1407330 6015.17 A G . 1/1 44 None None None 0.48263 0.48260 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs77140452
dbSNP Clinvar 		1407332 1716.92 G A . 0/1 45 None None None 0.17412 0.17410 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs36125646
dbSNP Clinvar 		1407796 5450.7 CAT C . 0/1 50 None None None 0.44309 0.44310 0.45869 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs762985677
dbSNP Clinvar 		1408920 288.09 GT... G . 1/1 3 None None None None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs73618035
dbSNP Clinvar 		1409086 1621.7 G T . 0/1 13 None None None 0.14137 0.14140 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs188926746
dbSNP Clinvar 		1409087 465.92 T G . 0/1 13 None None None 0.07328 0.07328 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs73618037
dbSNP Clinvar 		1409420 8055.7 G T . 0/1 101 None None None 0.15695 0.15690 0.11940 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs146060397
dbSNP Clinvar 		1412977 162.77 C A . 0/1 3 None None None 0.13419 0.13420 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs181735181
dbSNP Clinvar 		1413174 2900.5 G A . 0/1 84 None None None 0.00499 0.00499 0.00323 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs28414810
dbSNP Clinvar 		1413457 2387.94 C G . 1/1 7 None None None 0.67851 0.67850 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X . 1413478 46.39 C A . 0/1 8 None None None None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs28762968
dbSNP Clinvar 		1413489 120.32 G A . 0/1 5 None None None 0.18990 0.18990 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs28579512
dbSNP Clinvar 		1414065 317.28 C T . 0/1 8 None None None 0.28814 0.28810 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs28694718
dbSNP Clinvar 		1414225 2593.17 C T . 0/1 60 None None None 0.28994 0.28990 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs28391507
dbSNP Clinvar 		1414725 348.78 C T . 1/1 2 None None None 0.69589 0.69590 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs28484864
dbSNP Clinvar 		1419571 6333.17 C G . 0/1 13 None None None 0.72284 0.72280 0.33164 None None None None None None CSF2RA|0.001975868|91.07%

CSF2RA
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 gordonsepilepsy normalized 2076 X rs28460440
dbSNP Clinvar 		1422868 6648.5 G A . 0/1 106 SYNONYMOUS_CODING LOW None 0.32628 0.32630 0.37983 None None None None None None CSF2RA|0.001975868|91.07%
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 gordonsepilepsy normalized 2076 X rs28570311
dbSNP Clinvar 		1422943 13969.7 T C . 1/1 68 None None None 0.62640 0.62640 0.33598 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs78468042
dbSNP Clinvar 		1423039 1543.5 T C . 0/1 24 None None None 0.27756 0.27760 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs28481777
dbSNP Clinvar 		1423076 1661.72 T A . 1/1 9 None None None 0.75200 0.75200 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs376120349
dbSNP Clinvar 		1423083 1213.99 C CCT . 1/1 6 None None None 0.74461 0.74460 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs866652034
dbSNP Clinvar 		1423090 740.27 A G . 1/1 2 None None None None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs79649351
dbSNP Clinvar 		1423095 380.33 A T . 1/1 2 None None None 0.66633 0.66630 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs68129826
dbSNP Clinvar 		1424107 771.17 A G . 1/1 3 None None None 0.73023 0.73020 None None None None None None CSF2RA|0.001975868|91.07%
View gordonsepilepsy normalized 2076 X rs3202254
dbSNP Clinvar 		1460495 368.83 G A . 0/1 5 None None None 0.60004 0.60000 None None None None None None IL3RA|0.000832995|96.49%