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
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Genes:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 17
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 rs6537853
dbSNP Clinvar
115603340 372.58 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.93411 0.93410 None None None None None None TSPAN2|0.271901962|29.75%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 rs12131289
dbSNP Clinvar
156446450 1211.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.57149 0.57150 None None None None None None MEF2D|0.599412285|11.77%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 2 . 231248349 187.79 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 MOTIF[MA0138.2:Nrsf] MODIFIER None None None None None None None SP140L|0.000807166|96.61%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 7 . 101554716 62.58 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None None None None None None None CUX1|0.745995626|7.2%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 10 rs9419030
dbSNP Clinvar
135034542 114.2 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.73642 0.73640 None None None None None None KNDC1|0.003991691|87.04%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 13 rs745252
dbSNP Clinvar
30533414 336.79 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.10184 0.10180 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 13 rs77453082
dbSNP Clinvar
30533422 361.7 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.09305 0.09305 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 14 rs963474
dbSNP Clinvar
77600584 230.48 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.50020 0.50020 None None None None None None TMEM63C|0.00280742|89.01%,ZDHHC22|0.30053369|27.62%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 18 rs11082011
dbSNP Clinvar
35145122 267.36 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.48662 0.48660 None None None None None None CELF4|0.8655122|4.37%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 rs2904440
dbSNP Clinvar
29379391 58.64 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 22 . 44263912 24.92 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 8 rs4129585
dbSNP Clinvar
143312933 101.91 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.76118 0.76120 None None None None None None TSNARE1|0.007832478|82.73%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 13 . 33160541 20.1 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 20 . 44143983 2272.34 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 12 MOTIF[MA0138.2:Nrsf] MODIFIER None None None None None None None SPINT3|0.000117145|99.92%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3135878
dbSNP Clinvar
1804377 74.2 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.85583 0.85580 0.28 0.27 0.89815 D None None None None FGFR3|0.776648495|6.4%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 6 rs9347683
dbSNP Clinvar
163149055 1770.34 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 14 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.22384 0.22380 None None None None None None PACRG|0.635061961|10.62%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 10 rs2026427
dbSNP Clinvar
45389704 410.22 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.67452 0.67450 None None None None None None None
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