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

ANO3, ATP1A3, KCTD17, TUBB4A,
ANO3 Dystonia 24, 615034 (3)
ATP1A3 Dystonia-12, 128235 (3)
CAPOS syndrome, 601338 (3)
Alternating hemiplegia of childhood 2, 614820 (3)
KCTD17 Dystonia 26, myoclonic, 616398 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)

Genes at Clinical Genomics Database

ANO3, ATP1A3, KCTD17, TUBB4A,
ANO3 Craniocervical dystonia, autosomal dominant (Dystonia 24)
ATP1A3 Alternating hemiplegia of childhood 2
KCTD17 Dystonia 26, myoclonic
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 56
Number of Genes: 4

Export to: CSV

ANO3

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 11 rs2663168
dbSNP
26568966 7167.74 A G PASS 1/1 186 SYNONYMOUS_CODING LOW SILENT 0.67512 0.67510 0.34930 None None None None None None None

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

KCTD17

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 22 rs710185
dbSNP
37453452 1405.05 C T PASS 1/1 39 SYNONYMOUS_CODING LOW SILENT 0.83766 0.83770 0.19891 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 18 rs787554
dbSNP
11862697 2309.9 T C PASS 1/1 64 None None None 0.68910 0.68910 None None None None None None None
View dt39_s5 18 rs1786563
dbSNP
11825226 17802.83 C T PASS 1/1 439 None None None 0.69249 0.69250 None None None None None None None
View dt39_s5 18 rs8095592
dbSNP
11753716 26469.17 G A PASS 1/1 1224 None None None 0.34904 0.34900 0.35058 None None None None None None None
View dt39_s5 18 rs1895689
dbSNP
11752943 1904.29 C A PASS 1/1 52 None None None 0.34804 0.34800 0.35130 None None None None None None None
View dt39_s5 18 rs28696966
dbSNP
11752736 1871.78 C G PASS 1/1 48 None None None 0.10024 0.10020 None None None None None None None
View dt39_s5 18 . 11689497 7.08 A C LowGQX 1/1 2 None None None None None None None None None None
View dt39_s5 14 rs1753589
dbSNP
55369502 1581.98 A G PASS 1/1 46 None None None 0.94569 0.94570 None None None None None None None
View dt39_s5 14 rs6572984
dbSNP
55308770 2893.85 C A PASS 1/1 77 None None None 0.99002 0.99000 None None None None None None None
View dt39_s5 11 rs142099565
dbSNP
26569239 4622.41 TG T PASS 1/1 174 None None None 0.47744 0.47740 None None None None None None None
View dt39_s5 11 rs420143
dbSNP
26563652 28693.84 T G PASS 1/1 1300 None None None 0.71166 0.71170 0.30260 None None None None None None None
View dt39_s5 11 rs410036
dbSNP
26563464 26226.65 A T PASS 1/1 650 None None None 0.71166 0.71170 0.30245 None None None None None None None
View dt39_s5 11 rs396863
dbSNP
26559172 6688.19 G A PASS 1/1 172 None None None 0.71026 0.71030 None None None None None None None
View dt39_s5 11 rs551759
dbSNP
26556254 22965.86 A G PASS 1/1 580 None None None 0.69968 0.69970 None None None None None None None
View dt39_s5 11 rs410617
dbSNP
26547353 23964.19 T G PASS 1/1 1097 None None None 0.77696 0.77700 None None None None None None None
View dt39_s5 11 rs430563
dbSNP
26547348 23655.04 G A PASS 1/1 1096 None None None 0.76757 0.76760 None None None None None None None
View dt39_s5 11 rs4032918
dbSNP
26465500 17815.86 G A PASS 1/1 439 None None None 0.63538 0.63540 None None None None None None None
View dt39_s5 11 rs17243259
dbSNP
26353951 127.19 G T LowGQX 1/1 4 None None None 0.23802 0.23800 None None None None None None None
View dt39_s5 11 rs7925375
dbSNP
2191155 1140.16 T C PASS 1/1 29 None None None 0.69709 0.69710 None None None None None None None
View dt39_s5 11 rs7925924
dbSNP
2188566 6819.4 C T PASS 1/1 345 None None None 0.91554 0.91550 None None None None None None None
View dt39_s5 11 rs7925784
dbSNP
2188400 8887.6 C T PASS 1/1 224 None None None 0.91594 0.91590 None None None None None None None
View dt39_s5 11 rs7942881
dbSNP
2188388 8852.77 G C PASS 1/1 224 None None None 0.91554 0.91550 None None None None None None None
View dt39_s5 11 rs7483805
dbSNP
2187477 1247.19 C T PASS 1/1 34 None None None 0.91574 0.91570 None None None None None None None
View dt39_s5 11 rs4072823
dbSNP
2187398 1383.12 T G PASS 1/1 66 None None None 0.91653 0.91650 None None None None None None None
View dt39_s5 11 rs6578990
dbSNP
2187071 4373.87 T C PASS 1/1 206 None None None 0.91174 0.91170 None None None None None None None
View dt39_s5 9 rs57931082,rs397801608
dbSNP
130954645 128.76 C CA LowGQX 1/1 16 None None None None None None None None None None
View dt39_s5 8 rs4737075
dbSNP
42692110 8287.1 C T PASS 1/1 215 None None None 0.99960 0.99960 None None None None None None None
View dt39_s5 7 rs3823674
dbSNP
50571996 12352.6 C T PASS 1/1 313 None None None 0.35304 0.35300 None None None None None None None
View dt39_s5 7 rs540730472
dbSNP
50560394 3520.71 G C PASS 1/1 88 None None None 0.48163 0.48160 None None None None None None None
View dt39_s5 7 rs578102955
dbSNP
50560393 3518.06 G T PASS 1/1 88 None None None 0.48163 0.48160 None None None None None None None
View dt39_s5 7 rs557877090
dbSNP
50560392 3458.85 T C PASS 1/1 88 None None None 0.48023 0.48020 None None None None None None None
View dt39_s5 7 rs538192467
dbSNP
50560391 3497.82 A T PASS 1/1 88 None None None 0.48063 0.48060 None None None None None None None
View dt39_s5 7 rs569874474
dbSNP
50560390 3502.29 A C PASS 1/1 88 None None None 0.48063 0.48060 None None None None None None None
View dt39_s5 7 rs556388415
dbSNP
50560389 3483.15 A T PASS 1/1 88 None None None 0.48063 0.48060 None None None None None None None
View dt39_s5 7 rs62445939
dbSNP
50560385 3285.67 T G PASS 1/1 88 None None None 0.52596 0.52600 None None None None None None None
View dt39_s5 7 . 50560383 262.27 T TC PASS 1/1 86 None None None None None None None None None None
View dt39_s5 7 rs35666388
dbSNP
50560382 169.97 A AC LowGQX;LowQD 1/1 86 None None None 0.52596 0.52600 None None None None None None None
View dt39_s5 7 rs573002688
dbSNP
50560379 2881.18 G GAATT PASS 1/1 86 None None None 0.52596 0.52600 None None None None None None None
View dt39_s5 7 rs13234331
dbSNP
50560314 3451.8 G T PASS 1/1 88 None None None 0.35084 0.35080 None None None None None None None
View dt39_s5 7 rs11575456,rs112209590,rs59827423
dbSNP
50547661 5040.77 AG... A PASS 1/1 67 None None None 0.52616 0.52620 None None None None None None None
View dt39_s5 7 rs11575457
dbSNP
50547584 2676.25 A C PASS 1/1 68 None None None 0.52376 0.52380 0.45087 None None None None None None None
View dt39_s5 7 rs5884156,rs869220232
dbSNP
50544269 24721.92 AG A PASS 1/1 460 None None None 0.73423 0.73420 0.23462 None None None None None None None
View dt39_s5 22 rs117600608
dbSNP
38539436 50.05 A C LowGQX 1/1 2 None None None 0.00739 0.00739 None None None None None None None
View dt39_s5 7 rs3757472
dbSNP
50537983 1401.89 A C PASS 1/1 49 None None None 0.62840 0.62840 None None None None None None None
View dt39_s5 22 rs11570645
dbSNP
38539420 49.99 A G LowGQX 1/1 2 None None None 0.02915 0.02915 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 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 18 rs643652
dbSNP
11884670 21088.61 C G PASS 1/1 532 None None None 0.68111 0.68110 0.39236 None None None None None None None
View dt39_s5 18 rs4315401
dbSNP
11864707 20882.99 A G PASS 1/1 968 None None None 0.96466 0.96470 None None None None None None None