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:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 19
Number of Genes: 0

Export to: CSV
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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_53.variant16 1 rs4233
dbSNP Clinvar
31907457 1863.63 A C,G PASS 1/1 47 MOTIF[MA0079.1:SP1] LOW None 0.37680 0.37680 None None None None None None SERINC2|0.042418006|64.98%
View combined sample_53.variant16 1 rs756451664,rs57366528,rs397692198
dbSNP Clinvar
151299692 52.41 A AC... PASS 0/1 15 MOTIF[MA0079.1:SP1] LOW None None None None None None None PI4KB|0.485367384|16.51%
View combined sample_53.variant16 2 rs831526
dbSNP Clinvar
74153905 3881.89 C T PASS 1/1 206 MOTIF[MA0079.1:SP1] LOW None 0.99521 0.99520 None None None None None None None
View combined sample_53.variant16 6 rs949517411
dbSNP Clinvar
31633308 184.31 A C PASS 0/1 38 MOTIF[MA0079.1:SP1] MODIFIER None None None None None None None GPANK1|0.053434389|61.65%,CSNK2B|0.799053456|5.87%
View combined sample_53.variant16 6 rs774845282
dbSNP Clinvar
31633313 183.84 A C PASS 0/1 35 MOTIF[MA0079.1:SP1] MODIFIER None None None None None None None GPANK1|0.053434389|61.65%,CSNK2B|0.799053456|5.87%
View combined sample_53.variant16 19 rs2927472
dbSNP Clinvar
45349369 481.35 T C PASS 1/1 27 MOTIF[MA0079.1:SP1] MODIFIER None 0.82588 0.82590 None None None None None None None
View combined sample_53.variant16 19 rs8102492
dbSNP Clinvar
49140809 156.22 A C PASS 1/1 3 MOTIF[MA0079.1:SP1] MODIFIER None 0.67931 0.67930 None None None None None None None
View combined sample_53.variant16 19 rs550601112,rs3214450
dbSNP Clinvar
55964546 3411.27 G GC... PASS 0/1 168 MOTIF[MA0079.1:SP1] LOW None 0.00200 0.42430 None None None None None None ISOC2|0.014818901|77.28%
View combined sample_53.variant16 12 . 53320125 94.04 A C PASS 0/1 24 MOTIF[MA0079.1:SP1] MODIFIER None None None None None None None KRT8|0.548106459|13.83%
View combined sample_53.variant16 12 . 53320130 59.06 A C PASS 0/1 27 MOTIF[MA0079.1:SP1] MODIFIER None None None None None None None KRT8|0.548106459|13.83%
View combined sample_53.variant16 16 rs67832054,rs531735721,rs55733330
dbSNP Clinvar
53537170 142.9 CG... C,... PASS 1/1 6 MOTIF[MA0079.1:SP1] LOW None None None None None None None AKTIP|0.328844595|25.56%
View combined sample_53.variant16 17 rs9902624
dbSNP Clinvar
74733509 1248.74 C T PASS 0/1 112 MOTIF[MA0079.1:SP1] LOW None 0.04473 0.04473 None None None None None None MFSD11|0.169106191|40.43%
View combined sample_53.variant16 1 . 213188861 79.8 G C PASS 0/1 20 MOTIF[MA0079.1:SP1] MODIFIER None None None None None None None ANGEL2|0.269508842|29.92%
View combined sample_53.variant16 1 . 213188857 265.52 G GC PASS 0/1 18 MOTIF[MA0079.1:SP1] LOW None None None None None None None ANGEL2|0.269508842|29.92%
View combined sample_53.variant16 2 rs7579996
dbSNP Clinvar
110371692 2094.13 C A PASS 0/1 174 MOTIF[MA0079.1:SP1] LOW None 0.28075 0.28080 None None None None None None SEPT10|0.098372195|51.47%
View combined sample_53.variant16 6 rs3806981
dbSNP Clinvar
74231132 509.67 G T PASS 0/1 44 MOTIF[MA0079.1:SP1] LOW None 0.13878 0.13880 None None None None None None EEF1A1|0.588347145|12.19%
View combined sample_53.variant16 7 rs10261181
dbSNP Clinvar
24911526 433.4 G A PASS 1/1 63 MOTIF[MA0079.1:SP1] LOW None 0.44549 0.44550 0.27687 None None None None None None OSBPL3|0.180355322|38.99%
View combined sample_53.variant16 15 . 64056134 151.44 A C PASS 0/1 17 MOTIF[MA0079.1:SP1] MODIFIER None None None None None None None HERC1|0.415865937|19.82%
View combined sample_53.variant16 19 rs7507492
dbSNP Clinvar
11849841 2004.63 C A PASS 1/1 88 MOTIF[MA0079.1:SP1] LOW None 0.30212 0.30210 None None None None None None None
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