SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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EXCLUDE SAVED GENE LIST:

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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
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Genes at Omim

Genes at Clinical Genomics Database

MT-CO1, MT-ND3, MT-ND4,
MT-CO1 Deafness, mitochondrial
MT-ND3 Mitochondrial complex I deficiency
Leber optic atrophy and dystonia
MT-ND4 Leber hereditary optic neuropathy
Mitochondrial complex I deficiency
Leber optic atrophy and dystonia

Genes at HGMD

Summary

Number of Variants: 18
Number of Genes: 4

Export to: CSV
  • Page 1 of 1

MT-CO1

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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt M . 5935 0.0 A G PASS 0/1 0 MODIFIER None 0.00 0.96 None None None None None None None

MT-CYB

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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt M . 15326 0.0 A G PASS 1/1 0 MODIFIER None 0.28 0.01 None None None None None None None
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt M . 14766 0.0 C T PASS 1/1 0 MODIFIER None 0.04 0.00 None None None None None None None

MT-ND3

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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt M . 10398 0.0 A G PASS 1/1 0 MODIFIER None 1.00 0.00 None None None None None None None

MT-ND4

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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt M . 11719 0.0 G A PASS 1/1 0 MODIFIER None 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 trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 17 rs2189336
dbSNP Clinvar
5326162 0.0 G A PASS 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 15 rs2253603
dbSNP Clinvar
40565055 0.0 G A PASS 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 16 rs28439226
dbSNP Clinvar
33537331 0.0 A G PASS 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.40475 0.40480 None None None None None None None
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 11 rs11227495
dbSNP Clinvar
66263243 0.0 C T PASS 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21246 0.21250 0.19181 None None None None None None DPP3|0.287233243|28.56%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 16 rs28668368
dbSNP Clinvar
2848429 0.0 A C PASS 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.46226 0.46230 None None None None None None None
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 1 rs61810914
dbSNP Clinvar
144621555 0.0 A G PASS 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 5 rs62356073
dbSNP Clinvar
36241922 0.0 G A PASS 0/1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.25839 0.25840 None None None None None None NADK2|0.558013874|13.42%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 7 rs10224408
dbSNP Clinvar
139415723 0.0 G A PASS 1/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11941 0.11940 0.15136 None None None None None None HIPK2|0.358752838|23.52%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 16 rs12449272
dbSNP Clinvar
28962755 0.0 G A PASS 0/1 0 MOTIF[MA0062.2:Gabp] MODIFIER None 0.19109 0.19110 0.16739 None None None None None None NFATC2IP|0.147880436|43.31%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 16 rs61764202
dbSNP Clinvar
30134679 0.0 C T PASS 0/1 0 MOTIF[MA0058.1:Max] MODIFIER None 0.36202 0.36200 None None None None None None MAPK3|0.988267401|1.15%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 19 rs2301669
dbSNP Clinvar
19453560 0.0 C A PASS 0/1 0 MOTIF[MA0139.1:CTCF] MODIFIER None 0.52436 0.52440 0.42822 None None None None None None MAU2|0.230960956|33.29%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 15 . 85197513 0.0 A C PASS 0/1 0 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None WDR73|0.033188402|68.08%
View trio_parsed_vcf15_03359procol_vcf_report overall_15_03359procol_R1_converted_Unique_Output.pjt 16 rs28418438
dbSNP Clinvar
15068908 0.0 C G PASS 0/1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.42931 0.42930 None None None None None None PDXDC1|0.09983334|51.21%
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