SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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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 . 32145678 10.32 A T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45252045 10.48 A G PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 50084814 10.54 CT C PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2578987 10.54 C A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37225900 10.67 T A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 25218709 10.85 C A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58724031 11.62 G A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44066289 11.9 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23492111 12.05 A T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2316908 12.64 A G PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1162990 12.76 C T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30393460 12.93 T C PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30417507 13.45 G A PASS 0/1 126 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 42756295 13.68 T G PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 50151521 14.7 G T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62334776 14.76 T C PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 38601897 15.23 A T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 50832263 15.53 CT C PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 59254804 15.63 T C PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 48637790 15.73 G A PASS 0/1 6 None None None 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 . 13915344 16.78 T C PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43572381 17.1 A G PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32743156 17.39 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18057478 18.19 A C PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32548924 18.22 A T PASS 0/1 8 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 . 43569118 18.3 C A PASS 0/1 6 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 . 4728319 18.58 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 25919677 18.63 A G PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44429255 18.89 C T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62700126 19.39 C T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23984883 19.73 C T PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35386229 19.96 CA C PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 20495057 21.63 G A PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33710498 21.64 C G PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 844675 22.12 C CT PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13299657 22.39 T A PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45912168 22.45 T A PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 49544513 22.63 TC T PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 38131428 22.78 A C PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 31883923 23.11 C A PASS 0/1 6 None None None 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 . 50561144 23.45 T C PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44413470 23.48 G A PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 57659488 23.63 AG A PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 4862613 24.63 C A PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 4780133 25.1 T C PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2249260 25.41 AT A PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62126058 25.57 CA C PASS 0/1 9 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 . 49188272 26.47 G A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 50948463 26.63 CT C PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18057510 27.04 A C PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 50614757 27.54 G A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3749462 28.01 AC A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 38131463 28.03 A G PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32703601 29.15 TA T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 14086300 29.67 A G PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 13617205 29.82 TG T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35694887 32.12 TA T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 57653417 32.98 G T PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18298526 35.01 GC G PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51726060 35.63 TC T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18057503 35.74 A C PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62860983 36.27 T A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45790724 36.71 CA C PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51768162 36.99 T G PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 41473756 37.16 C CA PASS 0/1 3 None None None None None None None None None None

CPXM1

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 . 2774932 37.58 G GC PASS 0/1 6 FRAME_SHIFT HIGH 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 23 recalibrated filtered postcgp gqfiltered 20 . 36671486 37.63 T A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18057498 38.81 A C PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 20572040 39.1 G T PASS 0/1 5 None None None 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 . 63999955 41.44 CT C,... PASS 1/2 2 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 57525185 43.2 G T PASS 0/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63254228 43.41 G C PASS 0/1 4 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 18057490 45.23 A C PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63080290 46.16 CT C PASS 0/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35384648 46.49 TA T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35409488 46.99 T A PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 1565732 47.7 T C PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62475987 48.9 C A PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35142705 49.02 G A PASS 0/1 8 None None None 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 . 20629340 51.24 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30417520 51.59 T C PASS 0/1 115 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62914645 52.12 G C PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35366442 52.63 T G PASS 0/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47180530 56.43 T C PASS 0/1 7 None None None 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 . 50279666 65.37 T C PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 43583088 65.59 C T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62345489 65.98 T C PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 47180521 66.1 C T PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35409472 66.69 GA G PASS 0/1 10 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 . 33298976 69.11 CT C PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 55998779 70.63 T C PASS 0/1 6 None None None None None None None None None None