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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

SPG11, USP8,
SPG11 Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)
Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)
Spastic paraplegia 11, autosomal recessive, 604360 (3)
USP8 Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)

Genes at Clinical Genomics Database

SPG11,
SPG11 Amyotrophic lateral sclerosis 5, juvenile recessive
Charcot-Marie-Tooth disease, axonal, type 2X
Spastic paraplegia 11

Genes at HGMD

Summary

Number of Variants: 84
Number of Genes: 5

Export to: CSV
  • Page 1 of 1

MYEF2

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 ldp546 15 rs8023906
dbSNP Clinvar
48460927 787.46 C T . 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.99301 0.99300 0.00839 1.00 0.00 None None None None None None MYEF2|0.867363519|4.29%
View ldp546 15 rs2470103
dbSNP Clinvar
48443699 930.22 T C . 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00054 1.00 0.00 None None None None None None MYEF2|0.867363519|4.29%

SKOR1

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 ldp546 15 rs72751453
dbSNP Clinvar
68124665 362.21 C A . 0/1 33 SYNONYMOUS_CODING LOW None 0.17452 0.17450 0.33987 None None None None None None SKOR1|0.094347594|52.26%

SPG11

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 ldp546 15 rs80338868
dbSNP Clinvar
44949354 228.47 C T . 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.00319 0.00320 0.01016 0.13 0.92 None None None None None None SPG11|0.221584659|34.24%
View ldp546 15 rs3759871
dbSNP Clinvar
44943757 112.81 A G . 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.47484 0.47480 0.47930 0.46 0.89 None None None None None None SPG11|0.221584659|34.24%

SRP14

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 ldp546 15 rs8208
dbSNP Clinvar
40328665 642.94 G A . 1/1 26 SYNONYMOUS_CODING LOW None 0.45787 0.45790 0.39377 None None None None None None SRP14|0.079538827|55.27%
View ldp546 15 rs7321
dbSNP Clinvar
40330564 680.82 C T . 1/1 34 SYNONYMOUS_CODING LOW None 0.88718 0.88720 0.06907 None None None None None None SRP14|0.079538827|55.27%
View ldp546 15 rs7535
dbSNP Clinvar
40328575 716.07 G C . 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.88059 0.88060 0.09188 0.00 0.00 None None None None None None SRP14|0.079538827|55.27%

USP8

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 ldp546 15 rs3131561
dbSNP Clinvar
50773755 676.94 G A . 1/1 29 SYNONYMOUS_CODING LOW None 0.99221 0.99220 0.00848 None None None None None None USP8|0.320901309|26.09%
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 ldp546 15 rs6494831
dbSNP Clinvar
33304819 404.36 C T . 0/1 27 None None None 0.12760 0.12760 None None None None None None FMN1|0.549093904|13.77%
View ldp546 15 rs6494832
dbSNP Clinvar
33304903 40.53 T A . 0/1 13 None None None 0.12720 0.12720 None None None None None None FMN1|0.549093904|13.77%
View ldp546 15 rs345825
dbSNP Clinvar
33304954 93.84 C T . 0/1 15 None None None 0.63778 0.63780 None None None None None None FMN1|0.549093904|13.77%
View ldp546 15 rs2114261
dbSNP Clinvar
34780907 39.26 C G . 1/1 2 None None None 0.80132 0.80130 None None None None None None GOLGA8A|0.001476109|92.88%
View ldp546 15 rs12102243
dbSNP Clinvar
35141832 59.46 G C . 0/1 6 None None None 0.29852 0.29850 None None None None None None None
View ldp546 15 rs2290808
dbSNP Clinvar
35384908 217.34 C A . 1/1 9 None None None 0.75599 0.75600 None None None None None None None
View ldp546 15 rs12901760
dbSNP Clinvar
35385338 111.15 T C . 1/1 9 None None None 0.61681 0.61680 None None None None None None None
View ldp546 15 rs12916766
dbSNP Clinvar
35385434 180.4 C T . 1/1 16 None None None 0.33387 0.33390 None None None None None None None
View ldp546 15 rs937215
dbSNP Clinvar
40330693 181.28 C T . 1/1 11 None None None 0.89736 0.89740 None None None None None None SRP14|0.079538827|55.27%
View ldp546 15 rs2291619
dbSNP Clinvar
40329033 74.6 A G . 1/1 3 None None None 0.90495 0.90500 None None None None None None SRP14|0.079538827|55.27%
View ldp546 15 rs8041057
dbSNP Clinvar
40330629 324.79 C T . 1/1 16 None None None 0.45467 0.45470 0.38270 None None None None None None SRP14|0.079538827|55.27%
View ldp546 15 rs2724940
dbSNP Clinvar
42316820 41.02 G T . 1/1 3 None None None 0.95887 0.95890 None None None None None None PLA2G4E|0.068716894|57.79%
View ldp546 15 rs190227684
dbSNP Clinvar
44890420 169.13 A G . 0/1 23 None None None 0.00040 0.00040 0.00454 None None None None None None SPG11|0.221584659|34.24%
View ldp546 15 rs3736482
dbSNP Clinvar
48450517 147.91 T C . 1/1 5 None None None 0.89117 0.89120 None None None None None None MYEF2|0.867363519|4.29%
View ldp546 15 rs11070626
dbSNP Clinvar
48460786 111.15 T C . 1/1 4 None None None 0.90276 0.90280 0.07336 None None None None None None MYEF2|0.867363519|4.29%
View ldp546 15 rs11634538
dbSNP Clinvar
50124762 39.26 G A . 1/1 2 None None None 0.31929 0.31930 None None None None None None None
View ldp546 15 rs2241769
dbSNP Clinvar
50716633 323.04 G C . 1/1 32 None None None 0.21546 0.21550 None None None None None None USP8|0.320901309|26.09%
View ldp546 15 rs3131575
dbSNP Clinvar
50731154 74.6 T G . 1/1 4 None None None 0.22764 0.22760 None None None None None None USP8|0.320901309|26.09%
View ldp546 15 rs2289108
dbSNP Clinvar
50782335 41.02 G A . 1/1 2 None None None 0.42252 0.42250 None None None None None None USP8|0.320901309|26.09%
View ldp546 15 rs34639682,rs398027227
dbSNP Clinvar
50791803 676.12 GT G . 0/1 45 None None None 0.53654 0.53650 None None None None None None USP8|0.320901309|26.09%
View ldp546 15 rs41520145
dbSNP Clinvar
53229920 204.38 C T . 0/1 23 None None None 0.11861 0.11860 None None None None None None None
View ldp546 15 rs12050508
dbSNP Clinvar
53230662 47.43 C T . 0/1 12 None None None 0.27077 0.27080 0.30258 None None None None None None None
View ldp546 15 rs1355505
dbSNP Clinvar
54612833 62.47 A G . 0/1 6 None None None 0.28614 0.28610 None None None None None None UNC13C|0.206251224|36%
View ldp546 15 rs3907904
dbSNP Clinvar
54613524 217.34 T C . 1/1 8 None None None 0.70308 0.70310 None None None None None None UNC13C|0.206251224|36%
View ldp546 15 rs1846924
dbSNP Clinvar
55182710 110.27 A C . 1/1 6 None None None 0.99301 0.99300 None None None None None None None
View ldp546 15 rs17239459
dbSNP Clinvar
57539254 239.15 G C . 0/1 22 None None None 0.16813 0.16810 None None None None None None TCF12|0.955983669|2.07%
View ldp546 15 rs35287636
dbSNP Clinvar
59190805 268.39 A AAAGT . 1/1 5 None None None 0.07288 0.91330 None None None None None None RNF111|0.411378397|20.11%,SLTM|0.551308413|13.66%
View ldp546 15 rs1436964
dbSNP Clinvar
62374487 63.35 A G . 0/1 5 None None None 0.40835 0.40830 None None None None None None None
View ldp546 15 rs1436963
dbSNP Clinvar
62374593 30.23 C T . 0/1 5 None None None 0.40835 0.40830 None None None None None None None
View ldp546 15 rs4775568
dbSNP Clinvar
63245468 41.02 G A . 1/1 4 None None None 0.97424 0.97420 None None None None None None None
View ldp546 15 rs111917925
dbSNP Clinvar
63246254 143.79 A G . 0/1 19 None None None 0.11082 0.11080 None None None None None None None
View ldp546 15 rs17744730
dbSNP Clinvar
63246410 90.83 T C . 0/1 9 None None None 0.09285 0.09285 None None None None None None None
View ldp546 15 rs28485524
dbSNP Clinvar
63349132 55.58 T A . 0/1 13 None None None 0.12620 0.12620 0.12190 None None None None None None TPM1|0.978525529|1.5%
View ldp546 15 rs4775614
dbSNP Clinvar
63351687 164.05 A G . 0/1 8 None None None 0.86142 0.86140 None None None None None None TPM1|0.978525529|1.5%
View ldp546 15 rs9920576
dbSNP Clinvar
63363013 552.31 T C . 0/1 62 None None None 0.12220 0.12220 None None None None None None TPM1|0.978525529|1.5%
View ldp546 15 rs201620283
dbSNP Clinvar
63363401 641.78 C CA... . 0/1 37 None None None 0.12740 0.32530 None None None None None None TPM1|0.978525529|1.5%
View ldp546 15 rs1050255
dbSNP Clinvar
63363631 629.73 C T . 0/1 70 None None None 0.12141 0.12140 None None None None None None TPM1|0.978525529|1.5%
View ldp546 15 rs707602
dbSNP Clinvar
63363737 345.91 T C . 0/1 42 None None None 0.09924 0.09924 None None None None None None TPM1|0.978525529|1.5%
View ldp546 15 rs2253557
dbSNP Clinvar
64448365 74.6 C T . 1/1 6 None None None 0.82209 0.82210 0.12402 None None None None None None SNX22|0.06222831|59.26%,PPIB|0.438415381|18.75%
View ldp546 15 rs12911708
dbSNP Clinvar
65040928 74.6 C T . 1/1 3 None None None 0.74441 0.74440 None None None None None None RBPMS2|0.102450401|50.7%
View ldp546 15 rs6494493
dbSNP Clinvar
65041622 464.04 C A . 1/1 25 None None None 0.70168 0.70170 0.27373 None None None None None None RBPMS2|0.102450401|50.7%
View ldp546 15 rs191720575
dbSNP Clinvar
65043677 30.23 T C . 0/1 5 None None None 0.00200 0.00200 None None None None None None RBPMS2|0.102450401|50.7%
View ldp546 15 rs2660628
dbSNP Clinvar
66108647 627.94 G A . 1/1 23 None None None 0.70008 0.70010 None None None None None None RAB11A|0.717591641|8.03%
View ldp546 15 rs4776840
dbSNP Clinvar
67152797 41.02 C G . 1/1 2 None None None 0.85583 0.85580 None None None None None None None
View ldp546 15 rs4261476
dbSNP Clinvar
67920465 250.81 A G . 1/1 13 None None None 0.63738 0.63740 None None None None None None MAP2K5|0.942502304|2.41%
View ldp546 15 rs4558368
dbSNP Clinvar
67920531 180.4 T C . 1/1 6 None None None 0.97644 0.97640 None None None None None None MAP2K5|0.942502304|2.41%
View ldp546 15 rs7183168
dbSNP Clinvar
68121483 32.37 A C . 0/1 5 None None None 0.76478 0.76480 0.38684 None None None None None None SKOR1|0.094347594|52.26%
View ldp546 15 rs12901293
dbSNP Clinvar
68124853 188.44 G C . 0/1 16 None None None 0.33966 0.33970 None None None None None None SKOR1|0.094347594|52.26%
View ldp546 15 rs78032219
dbSNP Clinvar
71870379 57.33 A G . 0/1 11 None None None 0.13558 0.13560 None None None None None None THSD4|0.138392596|44.63%
View ldp546 15 rs12441946
dbSNP Clinvar
73191863 53.84 T C . 0/1 6 None None None 0.70827 0.70830 None None None None None None None
View ldp546 15 rs12050774
dbSNP Clinvar
73453815 180.29 G A . 0/1 18 None None None 0.29453 0.29450 None None None None None None NEO1|0.49032485|16.3%
View ldp546 15 rs4505257
dbSNP Clinvar
74654146 105.9 T C . 0/1 20 None None None 0.19409 0.19410 None None None None None None CYP11A1|0.126875127|46.36%
View ldp546 15 rs4886736
dbSNP Clinvar
76039262 123.07 T C . 0/1 11 None None None 0.78534 0.78530 None None None None None None None
View ldp546 15 rs1434450
dbSNP Clinvar
79531248 73.72 G A . 1/1 4 None None None 0.51857 0.51860 None None None None None None None
View ldp546 15 rs78658858
dbSNP Clinvar
85483617 66.37 A C . 0/1 6 None None None 0.00499 0.00499 None None None None None None SLC28A1|0.017310732|75.67%
View ldp546 15 rs2342123
dbSNP Clinvar
85725149 215.59 G C . 1/1 9 None None None 0.64896 0.64900 None None None None None None None
View ldp546 15 rs11854944
dbSNP Clinvar
89678671 41.02 A C . 1/1 2 None None None 0.19129 0.19130 None None None None None None ABHD2|0.420280407|19.56%
View ldp546 15 rs2028298
dbSNP Clinvar
90252238 39.26 C T . 1/1 4 None None None 0.38219 0.38220 None None None None None None WDR93|0.005864097|84.74%
View ldp546 15 rs4353458
dbSNP Clinvar
90252265 96.87 G T . 0/1 6 None None None 0.38439 0.38440 None None None None None None WDR93|0.005864097|84.74%
View ldp546 15 rs28445385
dbSNP Clinvar
90828480 41.02 G A . 1/1 2 None None None 0.29074 0.29070 None None None None None None None
View ldp546 15 rs12905043
dbSNP Clinvar
90828530 110.27 C T . 1/1 4 None None None 0.27336 0.27340 None None None None None None None
View ldp546 15 rs111217803
dbSNP Clinvar
92292949 39.26 T G . 1/1 2 None None None 0.34744 0.34740 None None None None None None None
View ldp546 15 rs28566962
dbSNP Clinvar
92829452 129.11 G A . 0/1 24 None None None 0.14557 0.14560 None None None None None None None
View ldp546 15 rs17645820
dbSNP Clinvar
92830434 55.58 T C . 0/1 8 None None None 0.22923 0.22920 None None None None None None None
View ldp546 15 rs34269257,rs398088164
dbSNP Clinvar
94577159 159.71 AC A . 0/1 19 None None None 0.23183 0.23180 None None None None None None None
View ldp546 15 rs4775176
dbSNP Clinvar
59842184 40.14 C G . 1/1 2 None None None 0.38558 0.38560 None None None None None None None
View ldp546 15 rs112982643
dbSNP Clinvar
99825265 254.68 G T . 0/1 13 None None None 0.08187 0.08187 None None None None None None LRRC28|0.301797854|27.51%
View ldp546 15 rs4776841
dbSNP Clinvar
67152845 40.14 T C . 1/1 2 None None None 0.85643 0.85640 None None None None None None None
View ldp546 15 rs1004818
dbSNP Clinvar
30297821 146.15 G C . 1/1 6 None None None 0.63139 0.63140 None None None None None None None
View ldp546 15 rs3109752
dbSNP Clinvar
20473355 40.14 C A . 1/1 2 None None None 0.43151 0.43150 None None None None None None None
View ldp546 15 rs368084116
dbSNP Clinvar
22174728 94.22 C T . 1/1 11 None None None None None None None None None None
View ldp546 15 rs8032479
dbSNP Clinvar
25652101 111.15 C G . 1/1 4 None None None 0.96645 0.96650 None None None None None None UBE3A|0.954330484|2.11%
View ldp546 15 rs8179187
dbSNP Clinvar
25652326 422.05 T G . 0/1 39 None None None 0.11801 0.11800 0.04866 None None None None None None UBE3A|0.954330484|2.11%
View ldp546 15 rs34071849,rs397773423
dbSNP Clinvar
33304458 205.49 T TGA . 0/1 9 None None None 0.14157 0.14160 None None None None None None FMN1|0.549093904|13.77%
View ldp546 15 rs28548712
dbSNP Clinvar
33304768 491.97 A C . 0/1 46 None None None 0.06290 0.06290 None None None None None None FMN1|0.549093904|13.77%
  • Page 1 of 1