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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
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CHR:

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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 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 . 63688251 59626.04 A C PASS 0/1 90 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63688111 73352.04 T C PASS 0/1 124 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63685281 3641.51 T G PASS 0/1 9 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63685277 3633.55 C T PASS 0/1 10 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63679745 21333.22 G A PASS 0/1 114 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63678486 7542.86 A G PASS 0/1 149 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63678201 58469.04 C T PASS 0/1 117 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63673921 146802.5 G A PASS 0/1 140 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63667320 10934.92 C G PASS 0/1 45 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63659655 12356.14 A G PASS 0/1 27 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63644492 3287.28 C T PASS 0/1 23 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63644491 5114.68 T C PASS 0/1 23 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63642082 3803.8 G A PASS 0/1 21 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63641305 6573.64 T C PASS 1/1 20 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63639577 1027.29 C A PASS 0/1 71 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63639552 3586.0 T C PASS 1/1 41 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63604795 92154.74 T C PASS 0/1 98 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63602920 69135.13 A G PASS 0/1 22 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63602888 80909.33 A G PASS 1/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63597984 20968.46 G A PASS 1/1 55 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63597965 322.68 C A PASS 0/1 79 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63595728 65446.76 A G PASS 0/1 109 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63592730 12350.2 C T PASS 0/1 40 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63592018 55450.34 A G PASS 1/1 63 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63591950 292.63 T C PASS 0/1 18 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63590858 4226.16 T G PASS 0/1 8 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63590257 60358.76 T C PASS 0/1 123 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63590052 313.65 A T PASS 0/1 21 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63574345 59.59 C A PASS 0/1 2 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63570948 4639.45 A G PASS 0/1 7 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63570887 19986.89 A G PASS 1/1 30 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63570431 2317.28 T C PASS 0/1 88 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63569576 3902.91 G A PASS 0/1 116 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63569507 20164.67 A G PASS 0/1 167 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63569385 5214.01 G A PASS 0/1 86 MODIFIER -1.05 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63569222 43650.67 T C PASS 1/1 47 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63567773 2205.7 C G PASS 0/1 35 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63567747 3103.4 G A PASS 0/1 50 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63567360 3288.11 G A PASS 0/1 108 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63567333 3565.62 G A PASS 0/1 109 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63567309 29840.54 A G PASS 1/1 100 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63566995 107955.67 C T PASS 1/1 182 MODIFIER -2.05 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63566883 41455.27 G A PASS 0/1 196 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63566266 499.1 C T PASS 0/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63566017 3166.14 G A PASS 0/1 118 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63565531 36289.4 A G PASS 1/1 149 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63565454 29608.42 T C PASS 1/1 202 MODIFIER -2.38 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63564900 28056.36 C A PASS 0/1 124 MODIFIER -1.69 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63564580 997.11 G A PASS 0/1 94 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63564313 1792.79 G A PASS 0/1 137 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63563734 6765.01 A G PASS 0/1 180 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63562775 2951.04 G A PASS 0/1 89 MODIFIER 0.25 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63562234 5941.82 T C PASS 0/1 38 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63562061 31104.78 A G PASS 1/1 87 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63560999 129.63 G A PASS 0/1 28 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63560584 16483.39 G A PASS 0/1 135 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63559968 45851.27 A G PASS 0/1 68 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63556164 3500.35 G A PASS 0/1 80 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63556086 31546.25 T C PASS 0/1 99 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63555834 42884.25 T C PASS 0/1 101 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63547090 286.63 C T PASS 0/1 38 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63541676 4519.84 A G PASS 0/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63494832 26266.12 A G PASS 1/1 79 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63494775 1228.45 G C PASS 0/1 27 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63490373 27737.62 T C PASS 1/1 53 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63490349 22822.81 A G PASS 1/1 44 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63488522 279.66 T C PASS 0/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63488262 371.27 A G PASS 1/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63488206 122.07 C G PASS 1/1 3 MODIFIER 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 . 63445390 15336.22 C A PASS 0/1 86 MODIFIER 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 . 63424064 3657.65 G A PASS 1/1 120 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63415143 49485.89 C CG... PASS 1/1 80 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63406924 15271.19 T G PASS 1/1 91 MODIFIER -1.19 None None rs1801475 2|2 Benign_familial_neonatal_seizures_1|not_specified 0|2 None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63361195 549.58 G C PASS 1/1 17 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63360933 471.54 A C PASS 0/1 9 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63359522 54296.79 T C PASS 1/1 88 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63351144 3295.44 T C PASS 1/1 4 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63350772 88749.99 A G PASS 1/1 224 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63350733 87902.63 A G PASS 1/1 157 MODIFIER None None None None None None None
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 . 63350184 17709.69 A G PASS 1/1 84 MODIFIER 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 . 63349752 29817.3 C T PASS 1/1 152 MODIFIER 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 . 63329410 2921.34 CTG C PASS 0/1 28 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63325861 1034.34 C G PASS 0/1 23 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63325430 25895.29 T C PASS 0/1 38 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63322013 4494.59 T C PASS 1/1 40 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63321872 2270.73 G C PASS 1/1 5 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63321138 7833.98 A G PASS 1/1 39 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63320516 15.86 G A PASS 0/1 6 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63320437 36715.18 C T PASS 1/1 22 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63320137 12659.86 G C PASS 1/1 53 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63319974 5584.38 CT C PASS 1/1 53 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63315340 6424.44 C T PASS 1/1 61 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63312564 26608.89 GC G PASS 0/1 27 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63312451 2434.4 C T PASS 0/1 17 MODIFIER -0.47 None None None None None None None