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: 24
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 allfamilies AWJ 1 rs2251098
dbSNP Clinvar
3566706 820.13 G A PASS 1/1 54 MOTIF[MA0062.2:Gabp] MODIFIER None 0.70727 0.70730 None None None None None None WRAP73|0.036942374|66.8%
View allfamilies AWJ 4 rs71606834
dbSNP Clinvar
140217010 350.68 G C PASS 0/1 133 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10583 0.10580 None None None None None None NDUFC1|0.017018884|75.84%
View allfamilies AWJ 5 rs34647
dbSNP Clinvar
72112430 2710.23 C G PASS 1/1 232 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.84325 0.84330 None None None None None None TNPO1|0.577927625|12.67%
View allfamilies AWJ 11 rs575375
dbSNP Clinvar
64535357 1383.33 T C PASS 1/1 59 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96865 0.96870 0.03041 None None None None None None SF1|0.639225523|10.49%
View allfamilies AWJ 13 rs9535292
dbSNP Clinvar
50244041 1713.65 T C PASS 1/1 128 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61062 0.61060 0.37188 None None None None None None EBPL|0.026484478|71.13%
View allfamilies AWJ 14 rs6109
dbSNP Clinvar
95058360 1434.58 A G PASS 1/1 130 MOTIF[MA0139.1:CTCF] MODIFIER None 0.63099 0.63100 0.22036 None None None None None None SERPINA5|0.010727799|80.35%
View allfamilies AWJ 17 rs2955626
dbSNP Clinvar
618100 1827.79 C G PASS 1/1 158 MOTIF[MA0062.1:Gabp] MODIFIER None 0.66753 0.66750 None None None None None None VPS53|0.411696194|20.07%
View allfamilies AWJ 17 rs2189336
dbSNP Clinvar
5326162 1755.16 G A PASS 1/1 170 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View allfamilies AWJ 17 rs74965213
dbSNP Clinvar
76522837 464.51 A G PASS 1/1 54 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.09125 0.09125 0.12835 None None None None None None DNAH17|0.043900967|64.55%
View allfamilies AWJ 20 rs2281282
dbSNP Clinvar
49575334 673.07 A C PASS 0/1 95 MOTIF[MA0062.2:Gabp] MODIFIER None 0.52796 0.52800 0.42189 None None None None None None None
View allfamilies AWJ 8 rs4475500
dbSNP Clinvar
144660523 508.51 A G PASS 1/1 34 MOTIF[MA0058.1:Max] MODIFIER None 1.00000 1.00000 None None None None None None NAPRT|0.033021116|68.15%
View allfamilies AWJ 10 rs1126827
dbSNP Clinvar
48438734 911.76 C T PASS 1/1 79 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.68490 0.68490 0.25000 None None None None None None GDF10|0.0826415|54.67%
View allfamilies AWJ 11 rs12793946
dbSNP Clinvar
13031846 258.73 G A PASS 0/1 90 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05072 0.05072 0.08486 None None None None None None None
View allfamilies AWJ 11 rs2074039
dbSNP Clinvar
44092880 415.15 C T PASS 0/1 137 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.11203 None None None None None None ACCS|0.034927707|67.49%
View allfamilies AWJ 14 rs4007475
dbSNP Clinvar
35515606 1960.09 TGG T PASS 1/1 164 TRANSCRIPT MODIFIER None None None None None None None FAM177A1|0.149130642|43.12%
View allfamilies AWJ 15 rs2253603
dbSNP Clinvar
40565055 1894.39 G A PASS 0/1 194 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View allfamilies AWJ 16 rs7191458
dbSNP Clinvar
4511752 62.42 T C PASS 0/1 25 MOTIF[MA0139.1:CTCF] MODIFIER None 0.12340 0.12340 0.11567 None None None None None None NMRAL1|0.088353774|53.58%
View allfamilies AWJ 19 rs2305763
dbSNP Clinvar
17316253 1915.87 T C PASS 0/1 122 MOTIF[MA0139.1:CTCF] MODIFIER None 0.62979 0.62980 None None None None None None MYO9B|0.037345575|66.66%
View allfamilies AWJ 19 rs10423542
dbSNP Clinvar
17316261 352.31 G A PASS 0/1 123 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05092 0.05092 None None None None None None MYO9B|0.037345575|66.66%
View allfamilies AWJ 3 rs73238032
dbSNP Clinvar
114018441 2164.73 T C PASS 1/1 195 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00479 0.00479 0.01545 None None None None None None TIGIT|0.008907269|81.74%
View allfamilies AWJ 6 rs2296358
dbSNP Clinvar
7390369 934.81 T C PASS 1/1 65 MOTIF[MA0139.1:CTCF] MODIFIER None 0.87560 0.87560 None None None None None None RIOK1|0.078777032|55.49%
View allfamilies AWJ 8 rs2250895
dbSNP Clinvar
145692296 3045.77 A C PASS 1/1 261 MOTIF[MA0058.1:Max] MODIFIER None 0.93730 0.93730 0.00952 None None None None None None KIFC2|0.020866379|73.72%
View allfamilies AWJ 17 rs6502330
dbSNP Clinvar
13972811 905.01 G A PASS 1/1 78 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99561 0.99560 None None None None None None None
View allfamilies AWJ 18 rs1077511
dbSNP Clinvar
77748525 125.84 A C PASS 0/1 24 MOTIF[MA0162.1:Egr1] MODIFIER None 0.79812 0.79810 None None None None None None TXNL4A|0.151661677|42.73%
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