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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 . 64273737 19146.74 T TTTC PASS 0/1 11 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 417395 6340.88 TTGTG TT... PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715254 1001.77 TG... T,TGC PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 5576040 12351.54 TAC T,... PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35871892 6095.3 TA T,TAA PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 36817487 384.05 TA T,TAA PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30399177 10860.59 T TTA PASS 0/1 120 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 25462355 37999.72 T TGGTG PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 675763 220.82 T TGGC PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3800210 44113.21 T TG... PASS 0/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3696448 19544.11 T TGCTG PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715260 1733.74 TG... TG... PASS 3/3 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 20712603 516.86 T TG... PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62332926 6054.18 T TG... PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 56473440 97742.43 T TGAG PASS 0/1 42 None None None None None None None None None None

SNTA1

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 . 32031239 2696.74 T TGAC PASS 0/1 147 CODON_INSERTION MODERATE 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 . 62829561 4083.79 T TG PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 6010080 5564.51 T TG PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62830443 2416.61 T TG PASS 0/1 115 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34996975 4925.54 T TG PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 17952724 3917.38 T TG PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34997019 2070.14 T TG PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63239253 34377.3 T TG PASS 1/1 67 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62695087 431.04 T TC... PASS 0/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 59253859 13110.41 T TC... PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 34999750 13545.79 TCCC TC,T PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23635182 10440.38 TC... TC... PASS 2/3 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644276 14169.29 TC... TC... PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 45421276 5780.0 T TC PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 33015599 11479.21 TAAA TA... PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3572652 8444.31 TAA TA... PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 16494219 3156.79 TAA TA... PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 159274 2613.11 T TA... PASS 1/2 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 16378711 29041.29 TAA TA... PASS 0/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51398570 15955.08 TAA TA,T PASS 1/1 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 53994888 38672.18 TA... TA... PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 46736386 1035.43 T TA... PASS 0/1 124 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 20034548 561.92 T TAAAC PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30399094 667.17 T TAA PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 51669945 28431.46 T TA PASS 1/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 20075394 101273.8 T TA PASS 1/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 21332471 36002.48 T TA PASS 1/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44462289 1197.3 T TA PASS 1/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 5099733 323.16 T TA PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 25526383 25523.39 T TA PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715264 2128.12 C T,* PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 58723979 4411.77 A T,* PASS 2/2 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715258 1224.06 TGTGA T,* PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644282 1917.45 A T,* PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644280 6841.36 A T,* PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 10644278 8318.6 A T,* PASS 0/2 6 None None None None None None None None None None

TBC1D20

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 . 419862 2082.11 TG T,* PASS 0/1 36 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 . 58723978 4411.77 G T,* PASS 2/2 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715256 1124.29 TG... T,* PASS 2/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 44715262 2013.04 A T,* PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 21246676 25498.8 C T PASS 1/1 4 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 . 32728060 37837.65 C T PASS 0/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 26081223 2356.92 G T PASS 1/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 26081229 1147.07 G T PASS 1/1 49 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 . 32703359 82232.68 C T PASS 1/1 41 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32651223 211.85 G T PASS 0/1 29 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 . 62465895 9009.82 C T PASS 0/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32431221 45677.04 C T PASS 1/1 90 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32368920 97.65 A T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32309519 5986.39 C T PASS 1/1 7 None None None None None None None None None None
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 . 32084072 18132.23 C T PASS 0/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62465257 4091.46 G T PASS 0/1 47 None None None 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 . 31925932 3054.67 C T PASS 0/1 85 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 26081312 212.48 G T PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23823919 2517.43 TG... T PASS 0/1 129 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23823718 1498.97 C T PASS 0/1 100 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23750923 15554.36 C T PASS 1/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23750789 27985.66 C T PASS 0/1 125 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23749085 273578.94 G T PASS 1/1 297 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23747596 8417.33 G T PASS 1/1 265 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23747520 5775.93 C T PASS 1/1 139 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62419668 2638.57 C T PASS 0/1 73 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 26081320 215.36 C T PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23637790 844.03 C T PASS 0/1 40 None None None 0.02 None None rs1064039 5 Age-related_macular_degeneration_11 0 None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62418292 611.62 C T PASS 0/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 26081385 2460.31 C T PASS 1/1 47 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23602386 541.89 C T PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62416591 256.56 C T PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30388499 180.99 A T PASS 0/1 232 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23548751 25043.53 C T PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62414129 2206.57 C T PASS 0/1 69 None None None 1.47 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 . 23491358 13428.63 C T PASS 1/1 421 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23444001 3559.35 C T PASS 0/1 35 None None None -0.40 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30391112 26957.42 C T PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30391200 74300.83 C T VQSRTrancheSNP99.90to100.00 0/1 71 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 30391321 63598.83 A T PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23397005 10206.36 C T PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs775937672
dbSNP
30391351 77557.83 C T PASS 0/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 23369888 1244.48 C T PASS 0/1 10 None None None None None None None None None None