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: 17
Number of Genes: 0

Export to: CSV
  • Page 1 of 1
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_61.variant23 2 rs2305161
dbSNP Clinvar
177134172 2746.63 C T PASS 0/1 161 MOTIF[MA0062.1:Gabp] LOW None 0.24820 0.24820 None None None None None None MTX2|0.824376132|5.2%
View combined sample_61.variant23 7 rs77036114
dbSNP Clinvar
56174351 544.44 C G PASS 0/1 35 MOTIF[MA0062.1:Gabp] MODIFIER None 0.00220 0.13680 None None None None None None None
View combined sample_61.variant23 7 rs146847249
dbSNP Clinvar
56174353 535.38 CG C PASS 0/1 35 MOTIF[MA0062.1:Gabp] LOW None 0.13838 0.13840 None None None None None None None
View combined sample_61.variant23 10 rs7922050
dbSNP Clinvar
16479007 372.33 C G PASS 0/1 39 MOTIF[MA0062.1:Gabp] MODIFIER None 0.66374 0.66370 None None None None None None PTER|0.605865305|11.6%
View combined sample_61.variant23 19 rs55794952
dbSNP Clinvar
50879675 193.34 G T PASS 0/1 21 MOTIF[MA0062.1:Gabp] LOW None 0.00539 0.00539 None None None None None None NR1H2|0.484472054|16.53%
View combined sample_61.variant23 1 rs112918702,rs533388228
dbSNP Clinvar
85725353 621.21 GC... G PASS 0/1 84 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_61.variant23 7 . 5938326 227.53 C T PASS 1/1 11 MOTIF[MA0062.1:Gabp] LOW None None None None None None None None
View combined sample_61.variant23 8 rs56316188
dbSNP Clinvar
59323811 1343.02 A G PASS 0/1 96 MOTIF[MA0062.1:Gabp] LOW None 0.24581 0.24580 None None None None None None None
View combined sample_61.variant23 17 rs2955626
dbSNP Clinvar
618100 810.3 C G PASS 0/1 120 MOTIF[MA0062.1:Gabp] MODIFIER None 0.66753 0.66750 None None None None None None VPS53|0.411696194|20.07%
View combined sample_61.variant23 19 rs2283616
dbSNP Clinvar
18682495 1785.87 A C PASS 0/1 28 MOTIF[MA0062.1:Gabp] MODIFIER None 0.70108 0.70110 None None None None None None None
View combined sample_61.variant23 20 rs7266947
dbSNP Clinvar
26188912 31076.5 A C PASS 0/1 1923 MOTIF[MA0062.1:Gabp] LOW None None None None None None None None
View combined sample_61.variant23 X rs199508989
dbSNP Clinvar
14048063 926.58 TC T PASS 1/1 19 MOTIF[MA0062.1:Gabp] LOW None 0.00821 0.00821 None None None None None None None
View combined sample_61.variant23 3 rs1048948525
dbSNP Clinvar
121264945 155.84 C T PASS 0/1 18 MOTIF[MA0062.1:Gabp] MODIFIER None None None None None None None None
View combined sample_61.variant23 6 rs3736175
dbSNP Clinvar
151773164 602.34 G A PASS 0/1 45 MOTIF[MA0062.1:Gabp] LOW None 0.10104 0.10100 None None None None None None RMND1|0.206108401|36.01%
View combined sample_61.variant23 11 rs11217125
dbSNP Clinvar
118889185 1926.15 T C PASS 0/1 115 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_61.variant23 13 rs144160325
dbSNP Clinvar
111364877 231.69 A AG... PASS 3/2 24 MOTIF[MA0062.1:Gabp] LOW None None None None None None None CARS2|0.018441874|74.99%
View combined sample_61.variant23 20 rs761246236
dbSNP Clinvar
1373845 320.41 CC... C PASS 0/1 33 MOTIF[MA0062.1:Gabp] LOW None None None None None None None None
  • Page 1 of 1