SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
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
RESET FILTER | Save Config | Save Analysis

Genes at Omim

DOCK8, IFITM5,
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
IFITM5 Osteogenesis imperfecta, type V, 610967 (3)

Genes at Clinical Genomics Database

DOCK8, IFITM5,
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
IFITM5 Osteogenesis imperfecta, type V

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 3

Export to: CSV
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ACP1

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 combined sample_46.variant10 2 rs79716074
dbSNP Clinvar
277003 981.35 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.26418 0.26420 0.30346 0.12 0.05 1.27 None None rs79716074 2 ACID_PHOSPHATASE_1,_SOLUBLE,_A/B_POLYMORPHISM_OF 0 ACP1|0.241498601|32.31%

DOCK8

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 combined sample_46.variant10 9 rs10970979
dbSNP Clinvar
334337 515.46 A G PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.19968 0.19970 0.28202 0.65 0.00 0.53 None None rs10970979 2 not_specified 2 DOCK8|0.209041054|35.69%
View combined sample_46.variant10 9 rs17673268
dbSNP Clinvar
368128 2547.67 C T PASS 0/1 237 NON_SYNONYMOUS_CODING MODERATE None 0.02935 0.02935 0.07589 0.02 0.61 6.47 None None rs17673268 2 not_specified 2 DOCK8|0.209041054|35.69%
View combined sample_46.variant10 9 rs34627722
dbSNP Clinvar
399255 763.9 G A PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.06110 0.06110 0.05797 0.42 0.00 2.15 None None rs34627722 2 not_specified 2 DOCK8|0.209041054|35.69%

IFITM5

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 combined sample_46.variant10 11 rs57285449
dbSNP Clinvar
299411 2482.61 C G PASS 0/1 213 NON_SYNONYMOUS_CODING MODERATE None 0.59265 0.59270 0.38807 0.20 0.10 -0.14 None None rs57285449 2 not_specified 2 IFITM5|0.07375105|56.57%
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 combined sample_46.variant10 7 rs57208694
dbSNP Clinvar
21658855 1426.47 A G PASS 0/1 98 None None None 0.56190 0.56190 0.48739 0.92 None None rs137855415 2 not_specified 1 DNAH11|0.38215847|21.9%
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