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 eb1954_unique 1 rs11264176
dbSNP Clinvar
36038999 1277.47 C T PASS 0/1 103 START_GAINED LOW None 0.09365 0.09365 None None None None None None TFAP2E|0.171086772|40.17%
View eb1954_unique 2 rs150924274
dbSNP Clinvar
88991167 1462.18 C T PASS 0/1 133 START_GAINED LOW None 0.00140 0.00140 0.00266 None None None None None None RPIA|0.434517729|18.96%
View eb1954_unique 2 rs574488896
dbSNP Clinvar
130737480 340.41 C G PASS 0/1 31 START_GAINED LOW None 0.00060 0.00060 None None None None None None RAB6C|0.00128831|93.98%
View eb1954_unique 2 rs141017118
dbSNP Clinvar
178417557 1043.19 G A PASS 0/1 75 START_GAINED LOW None 0.00998 0.00998 None None None None None None TTC30B|0.117726737|47.8%
View eb1954_unique 3 . 49395990 2620.26 G T PASS 0/1 166 START_GAINED LOW None None None None None None None GPX1|0.756845833|6.93%
View eb1954_unique 4 rs41275676
dbSNP Clinvar
95129540 4148.18 A G PASS 0/1 352 START_GAINED LOW None 0.00260 0.00260 0.01338 None None None None None None SMARCAD1|0.584402799|12.39%
View eb1954_unique 8 rs12550009
dbSNP Clinvar
15397820 26159.62 C T PASS 1/1 110 START_GAINED LOW None 0.22005 0.22000 None None None None None None TUSC3|0.220184482|34.41%
View eb1954_unique 10 rs143625079
dbSNP Clinvar
45406910 1394.18 C T PASS 0/1 140 START_GAINED LOW None 0.00200 0.00200 0.00057 None None None None None None TMEM72|0.025613933|71.48%
View eb1954_unique 11 . 60673889 1032.18 G A PASS 0/1 96 START_GAINED LOW None None None None None None None PRPF19|0.683176687|8.99%
View eb1954_unique 12 rs73313956
dbSNP Clinvar
33592590 11184.96 G C PASS 1/1 103 START_GAINED LOW None 0.12500 0.12500 None None None None None None SYT10|0.055182187|61.15%
View eb1954_unique 13 rs202129100
dbSNP Clinvar
115089297 3623.18 G C PASS 0/1 331 START_GAINED LOW None 0.00160 0.00160 0.00892 None None None None None None CHAMP1|0.091768231|52.86%
View eb1954_unique 14 rs150934068
dbSNP Clinvar
24616618 1986.45 C T PASS 0/1 173 START_GAINED LOW None 0.00260 0.00260 None None None None None None PSME2|0.310586201|26.79%,RNF31|0.218061063|34.61%
View eb1954_unique 14 rs141258197
dbSNP Clinvar
105775881 3483.41 C T PASS 0/1 294 START_GAINED LOW None 0.00399 0.00399 None None None None None None BRF1|0.023675116|72.34%,PACS2|0.046984786|63.59%
View eb1954_unique 15 rs189883385
dbSNP Clinvar
42343105 769.37 C T PASS 0/1 98 START_GAINED LOW None 0.00040 0.00040 None None None None None None PLA2G4E|0.068716894|57.79%
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