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OMIM:
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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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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 at Omim

COG2,
COG2 ?Congenital disorder of glycosylation, type IIq, 617395 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 12

Export to: CSV
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A4GNT

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 3 rs2170309
dbSNP Clinvar
137843106 329.21 T C PASS 1|0 7 SYNONYMOUS_STOP LOW None 0.65415 0.65420 0.33931 None None None None None None A4GNT|0.020635171|73.87%

C17orf72

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs11079520
dbSNP Clinvar
62079334 1305.16 A G PASS 1|0 43 SYNONYMOUS_STOP LOW None 0.24820 0.24820 None None None None None None PRR29|0.003440848|87.87%

COG2

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs1051038
dbSNP Clinvar
230829139 763.16 A G PASS 1|0 31 SYNONYMOUS_STOP LOW None 0.34465 0.34460 0.21359 None None None None None None COG2|0.130135468|45.85%

DAD1

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 14 rs1051154
dbSNP Clinvar
23044004 1429.92 C T PASS 0/1 51 SYNONYMOUS_STOP LOW None 0.09185 0.09185 0.10741 None None None None None None DAD1|0.762075801|6.8%

HDAC7

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 12 rs7306788
dbSNP Clinvar
48177906 1918.16 C T PASS 1|0 85 SYNONYMOUS_STOP LOW None 0.07149 0.07149 0.13901 None None None None None None HDAC7|0.157662345|41.92%

KCNJ12

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 17 rs76506689
dbSNP Clinvar
21319955 777.92 G A PASS 0/1 60 SYNONYMOUS_STOP LOW None None None None None None None KCNJ12|0.437556296|18.82%

NBPF9

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs78667364
dbSNP Clinvar
144828784 815.92 A G HARD_TO_VALIDATE 0/1 132 SYNONYMOUS_STOP LOW None None None None None None None NBPF9|0.001397166|93.36%

NUSAP1

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 15 rs7168431
dbSNP Clinvar
41672384 885.16 A G PASS 0|1 54 SYNONYMOUS_STOP LOW None 0.11562 0.11560 0.19375 None None None None None None NUSAP1|0.064166774|58.84%

PAQR6

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 1 rs7513351
dbSNP Clinvar
156213921 1494.9 C T PASS 0|1 37 SYNONYMOUS_STOP LOW None 0.21925 0.21920 0.16231 0.00 0.00 None None None None None None PAQR6|0.040541685|65.62%

RNF17

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 13 rs149693483
dbSNP Clinvar
25453423 1783.16 A G PASS 0|1 80 SYNONYMOUS_STOP LOW None 0.00040 0.00040 0.00038 None None None None None None RNF17|0.066095472|58.35%

SPOCK3

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 4 rs1057377
dbSNP Clinvar
167656073 288.68 C T PASS 0|1 6 SYNONYMOUS_STOP LOW None 0.12899 0.12900 0.18984 None None None None None None SPOCK3|0.107600954|49.67%

TMIGD2

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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_C_prob 19 rs888932
dbSNP Clinvar
4292597 962.16 C T PASS 0|1 47 SYNONYMOUS_STOP LOW None 0.46046 0.46050 0.41981 None None None None None None TMIGD2|0.000488929|98.49%
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