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 GROUPS:

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SELECT YOUR DISEASES:
OMIM:
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MUTATION TYPE:
 CHR:

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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
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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 11
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_64.variant26 1 rs59768250
dbSNP Clinvar 		40942969 174.56 C G PASS 0/1 28 MOTIF[MA0062.1:Gabp] MODIFIER None 0.05292 0.05292 None None None None None None ZFP69|0.042478631|64.96%
View combined sample_64.variant26 1 rs112918702,rs533388228
dbSNP Clinvar 		85725353 621.21 GC... G PASS 0/1 62 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_64.variant26 4 rs17323034
dbSNP Clinvar 		119606518 1258.37 G A PASS 0/1 114 MOTIF[MA0062.1:Gabp] LOW None 0.01577 0.01577 None None None None None None None
View combined sample_64.variant26 13 rs144160325
dbSNP Clinvar 		111364877 231.69 A AG... PASS 2/4 21 MOTIF[MA0062.1:Gabp] LOW None None None None None None None CARS2|0.018441874|74.99%
View combined sample_64.variant26 17 rs2955626
dbSNP Clinvar 		618100 810.3 C G PASS 0/1 144 MOTIF[MA0062.1:Gabp] MODIFIER None 0.66753 0.66750 None None None None None None VPS53|0.411696194|20.07%
View combined sample_64.variant26 1 rs72770318
dbSNP Clinvar 		247267686 950.48 G A PASS 0/1 62 MOTIF[MA0062.1:Gabp] LOW None 0.00859 0.00859 None None None None None None None
View combined sample_64.variant26 5 rs2546473
dbSNP Clinvar 		114961656 1293.91 T C PASS 1/1 113 MOTIF[MA0062.1:Gabp] MODIFIER None 0.11242 0.11240 None None None None None None TMED7-TICAM2|0.2791835|29.17%,TICAM2|0.025604369|71.5%,TMED7|0.344773485|24.52%
View combined sample_64.variant26 6 rs74723861
dbSNP Clinvar 		34857026 1989.67 C G PASS 0/1 160 MOTIF[MA0062.1:Gabp] MODIFIER None 0.01198 0.01198 None None None None None None None
View combined sample_64.variant26 10 rs7922050
dbSNP Clinvar 		16479007 372.33 C G PASS 1/1 49 MOTIF[MA0062.1:Gabp] MODIFIER None 0.66374 0.66370 None None None None None None PTER|0.605865305|11.6%
View combined sample_64.variant26 11 rs11217125
dbSNP Clinvar 		118889185 1926.15 T C PASS 0/1 128 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_64.variant26 20 rs7266947
dbSNP Clinvar 		26188912 31076.5 A C PASS 0/1 2103 MOTIF[MA0062.1:Gabp] LOW None None None None None None None None
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