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GROUPS:

SAVED GENE LIST:

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INDIVIDUALS:

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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 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 rs539759615
dbSNP
33040541 3243.73 C T PASS 0/1 4 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs553180236
dbSNP
33036562 88187.84 C T PASS 0/1 74 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs574990972
dbSNP
1312603 34213.36 C T PASS 0/1 181 None None None 0.00020 0.00020 1.44 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs541401754
dbSNP
49236285 124762.06 G A PASS 1/1 89 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs570671382
dbSNP
16749819 12884.65 T C PASS 1/1 15 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs117854077
dbSNP
41420459 51901.58 G A PASS 0/1 62 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs575355087
dbSNP
49812971 2507.67 G C PASS 0/1 84 None None None 0.00060 0.00060 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs113832781
dbSNP
45794194 413.89 G A PASS 0/1 1 None None None 0.00140 0.00140 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs114778639
dbSNP
45176633 861.77 G A PASS 0/1 60 None None None 0.00220 0.00220 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs6101640
dbSNP
35279894 305213.2 A G PASS 1/1 35 None None None 0.00280 0.00280 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs143170997
dbSNP
13093588 130368.4 G A PASS 1/1 52 None None None 0.00300 0.00300 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs142293580
dbSNP
45110478 2860.57 G A PASS 0/1 194 None None None 0.00319 0.00320 2.67 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs145880130
dbSNP
62337627 28610.89 T C PASS 0/1 50 None None None 0.00519 0.00519 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs114232924
dbSNP
46035732 6593.3 C T PASS 0/1 27 None None None 0.01957 0.01957 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs7273056
dbSNP
58707134 526.54 G A PASS 0/1 66 None None None 0.15156 0.15160 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64208082 481.63 G A PASS 0/1 43 MODIFIER -0.38 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64100639 1934.35 T C PASS 1/1 32 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64073787 8055.98 A C PASS 1/1 13 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64072137 25155.0 C T PASS 1/1 145 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64069739 29673.61 A C PASS 1/1 56 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64067131 3000.71 G A PASS 1/1 29 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64066835 6393.09 G A PASS 1/1 28 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64066398 117712.9 T C PASS 1/1 73 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64049125 801.38 T G PASS 0/1 11 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64039164 23.27 C A PASS 0/1 6 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64039016 1448.76 C T PASS 0/1 71 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64033012 7133.26 C T PASS 0/1 216 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64031783 12263.86 A C PASS 0/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64028584 14401.98 C T PASS 0/1 41 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64026799 2228.47 CA C PASS 0/1 11 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 64016939 1131.77 CT C,CTT PASS 0/1 9 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63999955 41.44 CT C,... PASS 1/2 2 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63994799 10690.8 C A PASS 0/1 6 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63993683 1227.84 A AG PASS 0/1 7 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63982985 20305.63 A G PASS 1/1 184 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63981322 1707.23 G A PASS 0/1 123 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63978413 611.54 C T PASS 0/1 20 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63978317 527.37 A G PASS 0/1 25 MODIFIER 2.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63975807 19578.47 C T PASS 0/1 33 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63975412 14397.46 C T PASS 0/1 20 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63968089 3441.37 C T PASS 0/1 11 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63967788 21870.27 C T PASS 0/1 71 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63967462 73177.32 C T PASS 1/1 115 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63966341 299619.27 T G PASS 1/1 243 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63966313 37971.28 C T PASS 0/1 190 MODIFIER 1.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63964637 6567.28 T C PASS 0/1 39 MODIFIER -3.82 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63964194 40026.28 C T PASS 0/1 128 MODIFIER 1.85 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63963816 125380.27 A G PASS 1/1 142 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63963546 5451.28 G A PASS 0/1 10 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63963483 1134.89 G A PASS 0/1 17 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63963478 1522.03 G A PASS 0/1 20 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63962807 1668.53 T C PASS 0/1 38 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63962227 1284.57 G T PASS 0/1 11 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63946725 1239.7 C T PASS 0/1 10 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63946724 18778.27 A AT PASS 0/1 10 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63944487 396.99 G A PASS 0/1 41 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63942653 2820.42 A G PASS 0/1 64 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63940064 10412.58 AGGG A,... PASS 0/1 24 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63930841 1824.4 C T PASS 0/1 58 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63929598 398.71 G A PASS 0/1 32 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63928611 23966.25 G A PASS 1/1 22 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63919364 8510.37 C T PASS 1/1 9 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63889470 679.92 AC... A PASS 0/1 9 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63889321 17362.6 G T PASS 1/1 25 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63889318 17581.84 T C PASS 1/1 25 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63887413 36461.32 C T PASS 1/1 17 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63887376 24928.84 A G PASS 1/1 10 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63873487 2319.47 CAA CA... PASS 0/1 4 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63747011 13873.5 C T PASS 0/1 90 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63746996 10710.84 C T PASS 0/1 88 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63743088 3776.66 T C PASS 1/1 7 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63743036 1284.42 C T PASS 0/1 34 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63742866 25432.97 A C PASS 1/1 79 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63742354 22214.25 G T PASS 1/1 49 MODIFIER 0.29 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63741460 69844.2 G A PASS 1/1 57 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63741353 39381.09 G A PASS 1/1 25 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63738996 3468.44 T C PASS 1/1 25 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63738542 15792.85 A G PASS 1/1 52 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63737947 9312.49 C G PASS 1/1 80 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63737808 270.91 C G PASS 0/1 13 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63736025 27128.22 A G PASS 1/1 123 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63733533 427356.2 T A PASS 1/1 120 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63708763 120188.2 C G PASS 1/1 113 MODIFIER 1.28 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63707707 428.58 C G PASS 1/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63706270 103661.27 A G PASS 1/1 6 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63701286 22736.13 A AC PASS 1/1 92 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63701185 2058.39 C T PASS 0/1 72 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63701084 6623.52 A G PASS 1/1 13 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63697746 953.88 G A PASS 0/1 6 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63697022 30696.73 A G PASS 1/1 123 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63696229 3800.82 G A PASS 1/1 91 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63695846 680.42 A G PASS 0/1 23 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63695226 6665.39 G T PASS 0/1 109 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63694757 36972.93 A C PASS 1/1 72 MODIFIER -0.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63692936 39801.92 C T PASS 0/1 94 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63691653 56327.05 G C PASS 0/1 63 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63690935 4345.37 T C PASS 0/1 52 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63690302 50079.04 G A PASS 0/1 148 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63689615 44857.03 T C PASS 0/1 81 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63688889 5178.92 G A PASS 0/1 19 MODIFIER None None None None None None None