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: 15
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_93.variant38 1 rs112918702,rs533388228
dbSNP Clinvar
85725353 621.21 GC... G PASS 0/1 63 MOTIF[MA0062.1:Gabp] LOW None 0.40455 0.40460 0.36497 None None None None None None C1orf52|0.098259766|51.49%
View combined sample_93.variant38 6 rs3736175
dbSNP Clinvar
151773164 602.34 G A PASS 0/1 41 MOTIF[MA0062.1:Gabp] LOW None 0.10104 0.10100 None None None None None None RMND1|0.206108401|36.01%
View combined sample_93.variant38 7 rs77036114
dbSNP Clinvar
56174351 544.44 C G PASS 0/1 26 MOTIF[MA0062.1:Gabp] MODIFIER None 0.00220 0.13680 None None None None None None None
View combined sample_93.variant38 7 rs146847249
dbSNP Clinvar
56174353 535.38 CG C PASS 0/1 25 MOTIF[MA0062.1:Gabp] LOW None 0.13838 0.13840 None None None None None None None
View combined sample_93.variant38 9 rs74967900
dbSNP Clinvar
130890413 656.12 C A PASS 0/1 65 MOTIF[MA0062.1:Gabp] LOW None 0.00339 0.00340 None None None None None None PTGES2|0.069133036|57.69%
View combined sample_93.variant38 10 rs7922050
dbSNP Clinvar
16479007 372.33 C G PASS 1/1 33 MOTIF[MA0062.1:Gabp] MODIFIER None 0.66374 0.66370 None None None None None None PTER|0.605865305|11.6%
View combined sample_93.variant38 11 rs11217125
dbSNP Clinvar
118889185 1926.15 T C PASS 0/1 109 MOTIF[MA0062.1:Gabp] MODIFIER None 0.27077 0.27080 None None None None None None RPS25|0.414981471|19.87%,TRAPPC4|0.703226976|8.41%
View combined sample_93.variant38 17 rs2955626
dbSNP Clinvar
618100 810.3 C G PASS 1/1 109 MOTIF[MA0062.1:Gabp] MODIFIER None 0.66753 0.66750 None None None None None None VPS53|0.411696194|20.07%
View combined sample_93.variant38 19 rs554829356
dbSNP Clinvar
35739479 2849.2 G A PASS 0/1 251 MOTIF[MA0062.1:Gabp] LOW None 0.00020 None None None None None None LSR|0.042036693|65.11%
View combined sample_93.variant38 7 . 5938326 227.53 C T PASS 1/1 10 MOTIF[MA0062.1:Gabp] LOW None None None None None None None None
View combined sample_93.variant38 10 rs9325444
dbSNP Clinvar
91461268 582.01 T G PASS 0/1 18 MOTIF[MA0062.1:Gabp] MODIFIER None 0.47304 0.47300 None None None None None None None
View combined sample_93.variant38 19 rs2283616
dbSNP Clinvar
18682495 1785.87 A C PASS 1/1 36 MOTIF[MA0062.1:Gabp] MODIFIER None 0.70108 0.70110 None None None None None None None
View combined sample_93.variant38 20 rs7266947
dbSNP Clinvar
26188912 31076.5 A C PASS 1/1 3055 MOTIF[MA0062.1:Gabp] LOW None None None None None None None None
View combined sample_93.variant38 6 rs57174507
dbSNP Clinvar
90348480 2372.77 T TG PASS 0/1 142 MOTIF[MA0062.1:Gabp] LOW None 0.16474 0.16470 0.17926 None None None None None None None
View combined sample_93.variant38 13 rs144160325
dbSNP Clinvar
111364877 231.69 A AG... PASS 2/4 11 MOTIF[MA0062.1:Gabp] LOW None None None None None None None CARS2|0.018441874|74.99%
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