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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

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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
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Genes at Omim

ANO5, COQ2, HLA-A,
ANO5 Gnathodiaphyseal dysplasia, 166260 (3)
Miyoshi muscular dystrophy 3, 613319 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)

Genes at Clinical Genomics Database

ANO5, COQ2, HLA-A,
ANO5 Gnathodiaphyseal dysplasia
COQ2 Coenzyme Q10 deficiency 1
HLA-A Drug-induced toxicity, susceptibility to

Genes at HGMD

Summary

Number of Variants: 37
Number of Genes: 27

Export to: CSV
  • Page 1 of 1

AL390778.1

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 sample_file 9 . 138150714 681.0 CA... TA... PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None None

ANKRD24

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 sample_file 19 . 4216902 1140.0 CG... CG... PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None ANKRD24|0.006993334|83.48%

ANO5

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 sample_file 11 rs7481951
dbSNP Clinvar
22271870 1775.0 A T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.44864 0.11 0.02 None None None None None None ANO5|0.057436384|60.57%

C9orf84

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 sample_file 9 rs6477845
dbSNP Clinvar
114462322 1645.0 A G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.83247 0.83250 0.20566 0.27 0.00 None None None None None None C9orf84|0.025999161|71.32%
View sample_file 9 rs1407390
dbSNP Clinvar
114464487 1513.0 T C PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.85024 0.85020 0.18868 0.26 0.00 None None None None None None C9orf84|0.025999161|71.32%

COQ2

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 sample_file 4 rs6818847
dbSNP Clinvar
84205872 342.0 C A PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.64976 0.64980 0.31481 0.33 0.00 None None None None None None COQ2|0.032632343|68.33%

FAM188B

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 sample_file 7 rs12701034
dbSNP Clinvar
30831082 308.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.50300 0.50300 0.41133 0.05 0.00 None None None None None None FAM188B|0.025227559|71.7%

FSCB

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 sample_file 14 rs11621923
dbSNP Clinvar
44974189 818.0 C A PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.05 None None None None None None FSCB|0.000408542|98.9%

GLYR1

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 sample_file 16 rs2085329
dbSNP Clinvar
4861709 1188.0 G C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.72 0.00 None None None None None None GLYR1|0.416044325|19.79%

GOLGA6L2

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 sample_file 15 rs373681793
dbSNP Clinvar
23685307 800.0 G C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.55 0.00 None None None None None None GOLGA6L2|0.000844228|96.42%

GRM7

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 sample_file 3 rs5846531,rs71043690
dbSNP Clinvar
7732726 855.0 AT A PASS 1/1 0 None None None None None None None None None GRM7|0.691014727|8.74%

HLA-A

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 sample_file 6 . 29913037 1031.0 GT... AT... PASS 2/2 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None HLA-A|0.043055872|64.8%

HLA-DRB5

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 sample_file 6 . 32489871 225.0 AG... GG... PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None HLA-DRB5|0.020830666|73.74%

HRNR

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 sample_file 1 . 152185762 663.0 CT... GT... PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None HRNR|0.000187528|99.8%

IGLV6-57

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 sample_file 22 rs5757323
dbSNP Clinvar
22550760 1703.0 A G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None

LCA10

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 sample_file X rs199975679
dbSNP Clinvar
153151284 912.0 GT G PASS 1/1 0 FRAME_SHIFT HIGH None None None None None None None L1CAM|0.504864866|15.59%

MAGEC1

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 sample_file X . 140993905 342.0 CC... CC... PASS 0/2 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None MAGEC1|0.000995741|95.47%
View sample_file X rs140075882
dbSNP Clinvar
140994066 32.0 G C PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 0.05471 0.09 0.24 None None None None None None MAGEC1|0.000995741|95.47%
View sample_file X . 140993852 1253.0 CT... GT... PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None MAGEC1|0.000995741|95.47%
View sample_file X . 140994010 62.0 CC... TC... PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None MAGEC1|0.000995741|95.47%

MAP1B

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 sample_file 5 . 71490955 913.0 CA... AA... PASS 2/2 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None MAP1B|0.669819319|9.38%

MAP7D3

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 sample_file X rs753019294
dbSNP Clinvar
135301799 219.0 T C PASS 1/0 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.01 None None None None None None MAP7D3|0.000285035|99.47%

OR2L8

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 sample_file 1 . 248112762 703.0 TG... CA... PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None OR2L13|0.004043561|86.95%,OR2L8|0.001567189|92.47%

OR2T35

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 sample_file 1 rs78622116
dbSNP Clinvar
248801592 720.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.62 0.00 None None None None None None OR2T35|0.002756684|89.14%

OR4M2

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 sample_file 15 rs491208
dbSNP Clinvar
22369248 2089.0 T C PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None OR4M2|0.016385168|76.23%

OR8B3

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 sample_file 11 . 124266906 1870.0 CA... TA... PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None None None None None None None OR8B3|0.007622769|82.94%

RP11-166B2.1

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 sample_file 16 rs71139503
dbSNP Clinvar
12027474 2793.0 CAT C PASS 1/1 0 FRAME_SHIFT HIGH None None None None None None None None

SARM1

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 sample_file 17 rs11340312
dbSNP Clinvar
26699205 767.0 GA G PASS 1/1 0 FRAME_SHIFT HIGH None 0.00114 None None None None None None TMEM199|0.152249989|42.63%,VTN|0.304771105|27.29%,SARM1|0.349245398|24.19%

SRA1

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 sample_file 5 rs202193903
dbSNP Clinvar
139931629 919.0 C G PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.39 0.00 None None None None None None SRA1|0.179022986|39.14%

SULT1A1

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 sample_file 16 rs1801030
dbSNP Clinvar
28617485 745.0 C T PASS 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.12714 0.04 0.12 None None None None None None SULT1A1|0.005972793|84.6%

THAP9

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 sample_file 4 rs897945
dbSNP Clinvar
83838262 591.0 G T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.32528 0.32530 0.42019 0.01 0.27 None None None None None None THAP9|0.017008063|75.85%,LIN54|0.327698843|25.65%
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 sample_file 13 rs2497229
dbSNP Clinvar
20005192 1366.0 G A PASS 1/1 0 None None None 0.99940 0.99940 None None None None None None TPTE2|0.001696247|91.9%
View sample_file 13 rs2497230
dbSNP Clinvar
20005215 1241.0 T C PASS 1/1 0 None None None 0.92991 0.92990 None None None None None None TPTE2|0.001696247|91.9%
View sample_file 13 rs530252795
dbSNP Clinvar
20014568 671.0 TAA TA,T PASS 1/2 0 None None None 0.06889 0.06889 None None None None None None TPTE2|0.001696247|91.9%
View sample_file 13 rs4771243
dbSNP Clinvar
20011903 1568.0 C T PASS 1/1 0 None None None 0.99561 0.99560 None None None None None None TPTE2|0.001696247|91.9%
View sample_file 13 rs9508022
dbSNP Clinvar
20014954 1556.0 C T PASS 1/1 0 None None None 0.91514 0.91510 None None None None None None TPTE2|0.001696247|91.9%
View sample_file 13 rs2497228
dbSNP Clinvar
20004994 1504.0 T C PASS 1/1 0 None None None 0.92991 0.92990 None None None None None None TPTE2|0.001696247|91.9%
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