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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
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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
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Genes at Omim

AHCY, EEF1A2, IDH3B, KCNQ2, NOP56, PRPF6, SNTA1, TBC1D20,
AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
EEF1A2 Mental retardation, autosomal dominant 38, 616393 (3)
Epileptic encephalopathy, early infantile, 33, 616409 (3)
IDH3B Retinitis pigmentosa 46, 612572 (3)
KCNQ2 Seizures, benign neonatal, 1, 121200 (3)
Myokymia, 121200 (3)
Epileptic encephalopathy, early infantile, 7, 613720 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
SNTA1 Long QT syndrome 12, 612955 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)

Genes at Clinical Genomics Database

AHCY, EEF1A2, FERMT1, IDH3B, KCNQ2, NOP56, PRPF6, SNTA1, TBC1D20,
AHCY Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
EEF1A2 Mental retardation, autosomal dominant 28
Epileptic encephalopathy, early infantile, 33
FERMT1 Kindler syndrome
IDH3B Retinitis pigmentosa, autosomal recessive, IDH3B-related
KCNQ2 Myokymia
Benign familial neonatal seizures, 1
Epileptic encephalopathy, early infantile, 7
NOP56 Spinocerebellar ataxia 36
PRPF6 Retinitis pigmentosa 60
SNTA1 Long QT syndrome 12
TBC1D20 Warburg micro syndrome 4

Genes at HGMD

Summary

Number of Variants: 2943
Number of Genes: 45

Export to: CSV
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 23 recalibrated filtered postcgp gqfiltered 20 . 63350202 19480.07 C A PASS 1/1 87 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45542073 51841.8 C A PASS 1/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3024767 25752.75 G A PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33217658 1281.4 C A PASS 0/1 63 None None None 3.13 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62311548 3095.71 G A PASS 0/1 136 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33225117 146812.18 G A PASS 0/1 72 None None None -1.11 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62310372 7402.29 C A PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33366729 5944.94 G A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63349782 21380.97 G A PASS 1/1 131 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3026582 12441.74 G A PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63343128 823.02 G A PASS 1/1 18 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33394100 50.63 C A PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33667635 1377.8 C A PASS 0/1 109 None None None 3.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 4721893 363.6 G A PASS 0/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46575627 23825.4 G A PASS 0/1 89 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23550639 773.05 G A PASS 0/1 56 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23568529 6790.97 C A PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46560332 26818.75 C A PASS 0/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63487900 88.89 C A PASS 0/1 8 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63472551 277.54 C A PASS 0/1 27 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23602461 2531.39 G A PASS 1/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23633624 2005.29 G A PASS 0/1 172 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23637851 390.86 G A PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23824026 2220.4 T A PASS 0/1 107 None None None -1.57 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 31925776 195.71 G A PASS 0/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46354878 8258.96 G A PASS 1/1 81 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63445390 15336.22 C A PASS 0/1 86 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32634182 407.85 G A PASS 0/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32650337 67.95 G A PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46178088 5355.36 G A PASS 0/1 139 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs543528675
dbSNP
46178004 5647.36 G A PASS 0/1 126 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46128768 3647.83 G A PASS 0/1 119 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63439613 14015.26 G A PASS 0/1 73 MODIFIER 0.25 None None rs2297385 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32703681 5292.8 C A PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63424064 3657.65 G A PASS 1/1 120 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32706980 40.64 T A PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62388719 6296.65 T A PASS 1/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2817118 991.57 AG A PASS 0/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2864484 103826.32 G A PASS 0/1 124 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32728055 36350.98 G A PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32858725 25.75 T A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32896611 3076.13 T A PASS 1/1 108 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62352419 3839.64 G A PASS 0/1 65 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62352375 9101.25 G A PASS 0/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32898692 18.43 G A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32906576 2434.97 G A PASS 1/1 65 None None None 1.25 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62346665 11942.54 C A PASS 0/1 146 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32961618 1322.07 G A PASS 1/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62346268 1896.24 G A PASS 0/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 444962 5795.44 C A PASS 1/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 4175301 19334.63 G A PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33002880 35599.73 C A PASS 1/1 35 None None None 1.82 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 4177206 737.45 G A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33011188 18966.32 G A PASS 1/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2865643 10294.16 G A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3015777 23389.25 T A PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33020444 70613.2 C A PASS 1/1 79 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33021440 3986.65 G A PASS 1/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62334410 8283.85 G A PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33033777 1554.11 G A PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62318556 588.63 G A PASS 0/1 96 MOTIF[MA0147.1:Cmyc] MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33034099 3481.33 G A PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33034277 119728.51 G A PASS 1/1 43 None None None 1.68 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62317726 684.4 T A PASS 0/1 23 None None None 0.94 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33034962 35503.84 C A PASS 0/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33042105 12918.01 G A PASS 0/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33042918 10896.26 G A PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62306274 158325.67 G A PASS 0/1 126 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33745520 18.23 T A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33790926 8597.59 G A PASS 0/1 60 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34079801 3088.29 C A PASS 0/1 130 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34096503 33957.08 G A PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34280231 1498.24 G A PASS 0/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34363402 88.21 G A PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62280959 8460.36 G A PASS 0/1 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62279938 265.97 G A PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34369410 894.29 G A PASS 0/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34445549 339.63 G A PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62256244 91261.41 G A PASS 0/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62216982 184.1 G A PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34559528 212.69 G A PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62193559 13298.27 G A PASS 0/1 49 None None None -1.50 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34560504 949.57 AC A PASS 0/1 82 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34581691 16999.15 AAGAG A PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34750782 5015.11 G A PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34754674 59393.78 G A PASS 0/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 4722135 1786.1 C A PASS 1/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62159842 3847.36 G A PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62158810 29131.9 C A PASS 0/1 62 None None None 0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34758753 144982.89 ATC A PASS 0/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62143421 172.77 T A PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34912442 784.33 C A PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34912575 1559.88 G A PASS 0/1 94 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62138255 70616.05 G A PASS 0/1 81 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34919161 8212.31 G A PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34921472 102964.49 G A PASS 0/1 108 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62137291 60595.2 G A PASS 0/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62137228 31013.05 G A PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34994152 65929.64 G A PASS 0/1 193 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 4724311 8296.9 C A PASS 1/1 3 None None None None None None None None None None