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READ DEPTH:

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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

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CADD

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MCAP

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Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 1

Export to: CSV
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HMCN2

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 9 . 133259866 2555.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 24 MOTIF[MA0093.1:USF1] LOW None None None None None None None HMCN2|0.079830645|55.22%
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 4 rs7673646
dbSNP Clinvar
82557036 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0093.1:USF1] MODIFIER None 0.88199 0.88200 None None None None None None RASGEF1B|0.464785707|17.39%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 12 rs983307
dbSNP Clinvar
109815103 899.35 T G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 MOTIF[MA0093.1:USF1] MODIFIER None 0.55252 0.55250 None None None None None None MYO1H|0.08059629|55.04%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 17 rs72857988
dbSNP Clinvar
78873384 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0093.1:USF1] LOW None 0.02776 0.02776 None None None None None None RPTOR|0.20894956|35.69%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 20 rs744590
dbSNP Clinvar
61870075 14506.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 142 MOTIF[MA0093.1:USF1] LOW None 0.44469 0.44470 None None None None None None BIRC7|0.003576281|87.65%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 2 rs11686181
dbSNP Clinvar
112375450 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0093.1:USF1] LOW None 0.32388 0.32390 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 15 rs973310631
dbSNP Clinvar
89020019 153.5 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0093.1:USF1] LOW None None None None None None None MRPS11|0.030729188|69.09%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 17 rs117365970
dbSNP Clinvar
43893259 378.58 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0093.1:USF1] LOW None 0.08606 0.08606 None None None None None None CRHR1|0.843169419|4.8%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 17 rs117646503
dbSNP Clinvar
43893260 378.58 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0093.1:USF1] MODIFIER None 0.08606 0.08606 None None None None None None CRHR1|0.843169419|4.8%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 rs12979308
dbSNP Clinvar
1275987 5313.93 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 38 MOTIF[MA0093.1:USF1] LOW None 0.79892 0.79890 None None None None None None C19orf24|0.0008779|96.15%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 rs12731385
dbSNP Clinvar
1294287 336.72 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0093.1:USF1] LOW None 0.71166 0.71170 None None None None None None MXRA8|0.028438146|70.23%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 2 rs34906275
dbSNP Clinvar
219292595 583.61 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 6 MOTIF[MA0093.1:USF1] LOW None 0.06789 0.06789 None None None None None None VIL1|0.201415524|36.59%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 13 . 36788673 3960.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 24 MOTIF[MA0093.1:USF1] LOW None None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only X . 73071082 13979.93 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 50 MOTIF[MA0093.1:USF1] LOW None None None None None None None None
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