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INDIVIDUALS:

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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
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Genes at Omim

ANO3, ATP1A3, KCTD17, PLA2G6, SGCE, TH, THAP1, 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)
PLA2G6 Parkinson disease 14, autosomal recessive, 612953 (3)
Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Infantile neuroaxonal dystrophy 1, 256600 (3)
SGCE Dystonia-11, myoclonic, 159900 (3)
TH Segawa syndrome, recessive, 605407 (3)
THAP1 Dystonia 6, torsion, 602629 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)

Genes at Clinical Genomics Database

ANO3, ATP1A3, CIZ1, KCTD17, PLA2G6, SGCE, TH, THAP1, TOR1A, TUBB4A,
ANO3 Craniocervical dystonia, autosomal dominant (Dystonia 24)
ATP1A3 Alternating hemiplegia of childhood 2
CIZ1 Primary cervical dystonia, adult-onset
KCTD17 Dystonia 26, myoclonic
PLA2G6 Neurodegeneration with brain iron accumulation 2B
Neurodegeneration with brain iron accumulation 2A
Parkinson disease 14, autosomal recessive
SGCE Dystonia 11, myoclonic
TH Segawa syndrome, autosomal recessive
THAP1 Dystonia 6, torsion
TOR1A Dystonia 1, torsion
TUBB4A Leukodystrophy, hypomyelinating, 6
Dystonia 4, torsion, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 132
Number of Genes: 10

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
View dt39_s5 11 rs11604868
dbSNP
26621117 2581.43 A C PASS 0/1 160 SYNONYMOUS_CODING LOW SILENT 0.16294 0.16290 0.14726 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

CIZ1

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 9 rs770045508
dbSNP
130950152 4.25 T C LowGQX;LowQD 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View dt39_s5 9 . 130928520 180.81 A G PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 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

PLA2G6

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 . 38539294 9.3 A G LowGQX;LowMQ;LowQD 0/1 191 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.34 0.71 None None None None None None None
View dt39_s5 22 . 38539248 9.3 A G LowGQX;LowMQ;LowQD 0/1 192 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

SGCE

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 7 rs10247562
dbSNP
94227276 42.27 T G PASS 0/1 3 None None None 0.76238 0.76240 0.12 0.00 None None None None None None None

TH

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 rs6357
dbSNP
2188238 605.54 C T PASS 0/1 118 SYNONYMOUS_CODING LOW SILENT 0.15455 0.15460 0.24714 None None None None None None None

THAP1

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 8 . 42693458 3571.81 G A PASS 0/1 200 STOP_GAINED HIGH NONSENSE None None None None None None None

TOR1A

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 9 . 132586292 76.22 T G LowQD 0/1 311 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.72 None None None None None None None
View dt39_s5 9 rs1801968
dbSNP
132580901 4215.35 C G PASS 0/1 437 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08367 0.08367 0.10180 0.01 0.79 None None None None None None None
View dt39_s5 9 . 132586300 578.99 T C LowQD 0/1 315 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.12 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 rs12373386
dbSNP
11882206 9589.93 T C PASS 0/1 510 None None None 0.57528 0.57530 None None None None None None None
View dt39_s5 18 rs62097397
dbSNP
11882122 7782.73 T C PASS 0/1 509 None None None 0.03514 0.03514 None None None None None None None
View dt39_s5 18 rs113066080,rs869226772
dbSNP
11881515 10464.85 AG A PASS 0/1 466 None None None 0.73522 0.73520 None None None None None None None
View dt39_s5 18 rs10164232
dbSNP
11881369 7440.38 G A PASS 0/1 948 None None None 0.01518 0.01518 None None None None None None None
View dt39_s5 18 rs79507261
dbSNP
11881324 8914.93 G A PASS 0/1 474 None None None 0.01717 0.01717 None None None None None None None
View dt39_s5 18 rs111767262
dbSNP
11867230 783.23 T C PASS 0/1 59 None None None 0.00339 0.00340 0.00238 None None None None None None None
View dt39_s5 18 rs2855642
dbSNP
11864723 8103.85 A G PASS 0/1 488 None None None 0.13718 0.13720 None None None None None None None
View dt39_s5 18 rs2855641
dbSNP
11864720 8189.68 A G PASS 0/1 490 None None None 0.18371 0.18370 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
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 rs1786564
dbSNP
11825212 6270.95 G C PASS 0/1 439 None None None 0.63918 0.63920 None None None None None None None
View dt39_s5 18 rs1647557
dbSNP
11824886 6325.79 T G PASS 0/1 437 None None None 0.63958 0.63960 0.32370 None None None None None None None
View dt39_s5 18 rs567876465
dbSNP
11824879 1144.89 CT CTT,C PASS 1/2 434 None None None 0.01178 0.01977 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 rs9675415
dbSNP
11690019 76.89 T C PASS 0/1 5 None None None 0.32408 0.32410 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 18 rs8087266
dbSNP
11688979 8222.94 G A PASS 0/1 525 None None None 0.30571 0.30570 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 rs841
dbSNP
55310492 7422.81 G A PASS 0/1 453 None None None 0.22983 0.22980 0.20033 None None None None None None None
View dt39_s5 14 rs145762799,rs371760932
dbSNP
55309840 26146.88 AAAG A PASS 0/1 874 None None None 0.09565 0.09565 0.08144 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 rs113119327,rs397970533
dbSNP
26683861 7524.52 T TC PASS 0/1 762 None None None 0.22900 None None None None None None None
View dt39_s5 11 rs3802755
dbSNP
26682834 5031.88 T A PASS 0/1 302 None None None 0.80212 0.80210 None None None None None None None
View dt39_s5 11 rs3802754
dbSNP
26682434 3502.96 T C PASS 0/1 324 None None None 0.23323 0.23320 None None None None None None None
View dt39_s5 11 rs10501060
dbSNP
26669596 10614.19 C T PASS 0/1 608 None None None 0.09445 0.09445 None None None None None None None
View dt39_s5 11 rs7928987
dbSNP
26581524 730.73 C T PASS 0/1 53 None None None 0.10982 0.10980 None None None None None None None
View dt39_s5 11 rs11029616
dbSNP
26581400 186.69 C T LowQD 0/1 102 None None None 0.06609 0.06609 None None None None None None None
View dt39_s5 11 rs760007715,rs71047866
dbSNP
26581382 755.94 T TAC PASS 0/1 94 None None None None None None None None None None
View dt39_s5 11 . 26574782 21590.6 TGT T,TT PASS 1/2 653 None None None 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 . 26465461 2801.01 AT A PASS 0/1 872 None None None 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 rs4074905
dbSNP
2189185 1149.41 G A PASS 0/1 63 None None None 0.70567 0.70570 0.39754 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 rs67482701
dbSNP
2188436 2992.79 A G PASS 0/1 168 None None None 0.16274 0.16270 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 rs12419447
dbSNP
2187855 65.02 G C PASS 0/1 9 None None None 0.17991 0.17990 0.26189 None None None None None None None
View dt39_s5 11 rs4072826
dbSNP
2187482 593.8 C G PASS 0/1 34 None None None 0.67951 0.67950 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 rs7479936
dbSNP
2187455 593.8 T G PASS 0/1 34 None None None 0.67931 0.67930 None None None None None None None
View dt39_s5 11 rs4072824
dbSNP
2187439 578.0 C A PASS 0/1 66 None None None 0.73423 0.73420 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 11 . 2186847 9.3 T C LowGQX 0/1 4 None None None 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 9 . 130950398 3.9 A T LowGQX;LowQD 0/1 3 None None None None None None None None None None
View dt39_s5 9 . 130950347 5.92 C T LowGQX;LowQD 0/1 3 None None None None None None None None None None
View dt39_s5 9 rs758376718
dbSNP
130950110 4.25 A G LowGQX;LowQD 0/1 7 None None None None None None None None None None
View dt39_s5 9 . 130943400 467.13 CT C PASS 0/1 148 None None None None None None None None None None
View dt39_s5 9 rs45585631
dbSNP
130942972 144.57 T C PASS 0/1 25 None None None 0.69269 0.69270 0.41004 None None None None None None None
View dt39_s5 9 . 130942901 24.72 A C LowGQX;LowQD 0/1 25 None None None None None None None None None None
View dt39_s5 9 rs3892074
dbSNP
130940822 2872.72 C T PASS 0/1 284 None None None 0.68730 0.68730 None None None None None None None
View dt39_s5 9 rs4075428
dbSNP
130940121 117.4 G A PASS 0/1 6 None None None 0.82788 0.82790 None None None None None None None
View dt39_s5 9 rs144699223,rs59232258
dbSNP
130932396 12210.76 AAC A PASS 0/1 525 None None None 0.48463 0.48460 0.49081 None None None None None None None
View dt39_s5 9 rs10987905
dbSNP
130931586 1334.76 C A PASS 0/1 76 None None None 0.16194 0.16190 None None None None None None None
View dt39_s5 8 rs111989331
dbSNP
42693566 3525.72 T C PASS 0/1 200 None None None 0.18650 0.18650 None None None None None None None
View dt39_s5 8 . 42692467 607.53 TA T PASS 0/1 290 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 rs10232398
dbSNP
94227509 43.44 G A PASS 0/1 6 None None None 0.76298 0.76300 None None None None None None None
View dt39_s5 7 . 94227366 6.76 T C LowGQX;LowQD 0/1 9 None None None None None None None None None None
View dt39_s5 7 . 94227208 4.25 A T LowGQX;LowQD 0/1 3 None None None None None None None None None None
View dt39_s5 7 rs3837091,rs10600316
dbSNP
50628739 7591.11 CCTCT C PASS 0/1 263 None None None 0.29293 0.29290 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