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 GROUPS:

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SELECT YOUR DISEASES:
OMIM:
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MUTATION TYPE:
 CHR:

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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

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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 1

Genes:
OTOG,

+ Genes associated with diseases 1

Genes at Omim

OTOG,
OTOG Deafness, autosomal recessive 18B, 614945 (3)

Genes at Clinical Genomics Database

OTOG,
OTOG Deafness, autosomal recessive 18B

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

OTOG
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 el-exome_s1 11 rs7934079
dbSNP Clinvar 		17627613 135.67 G C LowGQ;LowGQX 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.82608 0.82610 0.41 0.00 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs2041028
dbSNP Clinvar 		17631751 415.67 C T PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.43470 0.43470 0.69 0.00 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs7111528
dbSNP Clinvar 		17632651 364.08 C T PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.40316 0.40320 0.21 0.01 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs11024350
dbSNP Clinvar 		17656686 142.69 C T PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.14617 0.14620 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs10832824
dbSNP Clinvar 		17663444 652.26 C T PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.34305 0.34310 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs2023483
dbSNP Clinvar 		17663742 229.21 G C PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.36621 0.36620 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs11024357
dbSNP Clinvar 		17667439 875.21 G C PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.17772 0.17770 0.01 0.25 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs61611064
dbSNP Clinvar 		17579783 1528.65 C A PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.11322 0.11320 0.33 0.27 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs7106548
dbSNP Clinvar 		17593709 489.16 T C PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.44090 0.44090 0.44 0.00 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs4757548
dbSNP Clinvar 		17596313 355.24 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.33387 0.33390 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs2355466
dbSNP Clinvar 		17600033 293.74 G A PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.27616 0.27620 0.01 0.98 None None None None None None OTOG|0.090369782|53.15%
View el-exome_s1 11 rs11024333
dbSNP Clinvar 		17615203 738.97 G A PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.15655 0.15650 0.31 0.01 None None None None None None OTOG|0.090369782|53.15%
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