SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
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

ATP1A3, TUBB4A,
ATP1A3 Dystonia-12, 128235 (3)
CAPOS syndrome, 601338 (3)
Alternating hemiplegia of childhood 2, 614820 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)

Genes at Clinical Genomics Database

ATP1A3, TUBB4A,
ATP1A3 Alternating hemiplegia of childhood 2
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 2

Export to: CSV

ATP1A3

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 dt39_s5 19 rs919390
dbSNP
42471050 6753.18 G C PASS 1/1 173 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71945 0.71940 0.28832 0.00 None None None None None None None
View dt39_s5 19 rs2217342
dbSNP
42489516 6427.17 A C PASS 1/1 170 SYNONYMOUS_CODING LOW SILENT 0.90156 0.90160 0.07028 None None None None None None None

TUBB4A

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 dt39_s5 19 . 6501402 14.92 T C LowGQX 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.00 None None None None None None None
View dt39_s5 19 . 6501269 11.01 A G LowGQX 1/1 1 None None None None None None None None None None
View dt39_s5 19 rs2071347
dbSNP
6495736 9407.52 A G PASS 1/1 239 SYNONYMOUS_CODING LOW SILENT 0.62939 0.62940 0.30468 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 dt39_s5 19 rs73932862
dbSNP
42489435 2523.83 T A PASS 0/1 170 None None None 0.00998 0.00998 0.00953 None None None None None None None
View dt39_s5 19 rs3099129
dbSNP
6494915 3178.21 C G PASS 1/1 83 None None None 0.54752 0.54750 None None None None None None None
View dt39_s5 19 rs1053377
dbSNP
6494502 14.92 T C LowGQX;LowMQ;LowQD 1/1 35 None None None 0.40156 0.40160 None None None None None None None
View dt39_s5 19 rs446199
dbSNP
6495064 956.55 C G PASS 1/1 25 None None None 0.74740 0.74740 None None None None None None None
View dt39_s5 19 . 42482489 5.92 G A LowGQX 0/1 2 None None None None None None None None None None
View dt39_s5 19 . 42482552 9.3 A G LowGQX 0/1 4 None None None None None None None None None None