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: 14
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_66.variant27 1 rs61814511
dbSNP Clinvar
145209012 336.7 G A PASS 0/1 126 MOTIF[MA0024.1:E2F1] LOW None None None None None None None None
View combined sample_66.variant27 5 rs329120
dbSNP Clinvar
133861756 1511.17 C T PASS 0/1 140 MOTIF[MA0024.1:E2F1] LOW None 0.41973 0.41970 None None None None None None JADE2|0.236172174|32.8%
View combined sample_66.variant27 7 rs3807475
dbSNP Clinvar
100026292 1042.21 G A PASS 0/1 109 MOTIF[MA0024.1:E2F1] LOW None 0.13938 0.13940 None None None None None None ZCWPW1|0.02187716|73.24%
View combined sample_66.variant27 15 rs140571065
dbSNP Clinvar
90808834 1297.56 G C PASS 0/1 134 MOTIF[MA0024.1:E2F1] MODIFIER None 0.01977 0.01977 None None None None None None None
View combined sample_66.variant27 16 rs7204250
dbSNP Clinvar
89883224 1135.47 C G PASS 0/1 36 MOTIF[MA0024.1:E2F1] MODIFIER None 0.60863 0.60860 None None None None None None None
View combined sample_66.variant27 1 rs1200128
dbSNP Clinvar
169076212 756.34 G C PASS 0/1 92 MOTIF[MA0024.1:E2F1] LOW None 0.11741 0.11740 0.22777 None None None None None None ATP1B1|0.11594303|48.14%
View combined sample_66.variant27 10 rs12359679
dbSNP Clinvar
115439396 1926.98 C G PASS 0/1 79 MOTIF[MA0024.1:E2F1] LOW None 0.09724 0.09724 None None None None None None CASP7|0.037176422|66.73%
View combined sample_66.variant27 1 rs55906130
dbSNP Clinvar
179335058 528.99 C T PASS 1/1 51 MOTIF[MA0024.1:E2F1] LOW None 0.47544 0.47540 None None None None None None AXDND1|0.018165173|75.2%
View combined sample_66.variant27 2 rs4519508
dbSNP Clinvar
68479576 1375.2 G A PASS 1/1 73 MOTIF[MA0024.1:E2F1] LOW None 0.46246 0.46250 None None None None None None PPP3R1|0.920628197|2.96%
View combined sample_66.variant27 3 rs4973904
dbSNP Clinvar
40498933 3165.88 A G PASS 1/1 134 MOTIF[MA0024.1:E2F1] LOW None 0.97085 0.97080 0.02988 None None None None None None RPL14|0.064797243|58.69%
View combined sample_66.variant27 3 rs17523373
dbSNP Clinvar
125802961 256.45 G A PASS 1/1 28 MOTIF[MA0024.1:E2F1] LOW None 0.62540 0.62540 None None None None None None SLC41A3|0.008265436|82.38%
View combined sample_66.variant27 8 rs7005244
dbSNP Clinvar
27168961 773.9 G A PASS 0/1 16 MOTIF[MA0024.1:E2F1] LOW None 0.51158 0.51160 None None None None None None None
View combined sample_66.variant27 10 rs7097367
dbSNP Clinvar
28288057 96.14 G T PASS 0/1 17 MOTIF[MA0024.1:E2F1] LOW None 0.26418 0.26420 None None None None None None None
View combined sample_66.variant27 18 rs11663049
dbSNP Clinvar
12991393 3959.38 T C PASS 1/1 124 MOTIF[MA0024.1:E2F1] LOW None 0.72085 0.72080 None None None None None None CEP192|0.030811627|69.03%
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