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: 32
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_59.variant21 1 rs766294419
dbSNP Clinvar
110301766 464.39 AG... AG... PASS 1/4 45 None None None None None None None None None GSTM5|0.009497757|81.28%,EPS8L3|0.013583387|78.12%
View combined sample_59.variant21 1 . 118502732 705.63 CG... CG... PASS 1/4 27 None None None None None None None None None WDR3|0.257679574|30.96%,SPAG17|0.037205443|66.71%
View combined sample_59.variant21 1 rs202011401
dbSNP Clinvar
174769068 666.74 GC... G,... PASS 1/4 30 None None None None None None None None None RABGAP1L|0.635233626|10.61%
View combined sample_59.variant21 7 . 28860743 2527.26 ATGTG AT... PASS 1/4 110 None None None None None None None None None CREB5|0.968027891|1.77%
View combined sample_59.variant21 8 . 1806045 539.5 GA... TA... PASS 1/4 26 None None None None None None None None None ARHGEF10|0.010635325|80.42%
View combined sample_59.variant21 8 rs72423486,rs35791396
dbSNP Clinvar
63502434 64.41 TT... T,... PASS 1/4 15 None None None None None None None None None NKAIN3|0.347255626|24.34%
View combined sample_59.variant21 9 rs3045544
dbSNP Clinvar
84267021 510.01 TAC TA... PASS 1/4 15 None None None None None None None None None TLE1|0.907652554|3.29%
View combined sample_59.variant21 9 . 113137745 190.09 TA... TA... PASS 1/4 14 None None None None None None None None None SVEP1|0.103919502|50.43%
View combined sample_59.variant21 12 rs780238043
dbSNP Clinvar
51747148 1626.22 CTTTT CT... PASS 1/4 32 None None None None None None None None None GALNT6|0.059851896|59.9%
View combined sample_59.variant21 13 rs563915988
dbSNP Clinvar
37420610 647.18 CAAAA CA... PASS 1/4 18 None None None 0.59325 0.59330 None None None None None None SMAD9|0.616726797|11.22%
View combined sample_59.variant21 19 . 8210564 179.95 CAAAA CA... PASS 1/4 12 None None None None None None None None None FBN3|0.011258615|79.83%
View combined sample_59.variant21 21 . 10795719 387.23 GT... GT... PASS 1/4 13 None None None None None None None None None None
View combined sample_59.variant21 1 rs202221922
dbSNP Clinvar
161698011 7611.69 CG... CG... PASS 1/4 111 None None None None None None None None None None
View combined sample_59.variant21 2 rs10804413
dbSNP Clinvar
241706166 907.74 T A,... PASS 1/4 15 None None None None None None None None None KIF1A|0.102859335|50.62%
View combined sample_59.variant21 2 rs57205763,rs550377398,rs869035962
dbSNP Clinvar
201470233 448.88 ATTTT AT... PASS 1/4 26 None None None 0.37080 None None None None None None AOX1|0.048138399|63.27%
View combined sample_59.variant21 3 rs377492837,rs11708715,rs58313216
dbSNP Clinvar
182945816 820.32 T C,... PASS 1/4 19 None None None 0.78474 0.78470 None None None None None None MCF2L2|0.04761529|63.45%
View combined sample_59.variant21 4 rs878874451
dbSNP Clinvar
153884092 1440.57 GG... GG... PASS 1/4 47 None None None None None None None None None FHDC1|0.013990925|77.88%
View combined sample_59.variant21 10 . 115805559 234.32 CT... CT... PASS 1/4 16 None None None None None None None None None ADRB1|0.666700808|9.49%
View combined sample_59.variant21 12 rs879176061
dbSNP Clinvar
122097043 231.47 GC... GC... PASS 1/4 29 None None None None None None None None None MORN3|0.049683335|62.76%
View combined sample_59.variant21 17 rs796202028,rs757445257
dbSNP Clinvar
76430004 663.8 A AG... PASS 1/4 7 None None None None None None None None None DNAH17|0.043900967|64.55%
View combined sample_59.variant21 18 . 44388784 227.08 CTTT CT... PASS 1/4 43 None None None None None None None None None PIAS2|0.770219239|6.55%
View combined sample_59.variant21 19 . 49954282 1546.75 CTTTT CT... PASS 1/4 41 None None None None None None None None None PIH1D1|0.036643548|66.93%
View combined sample_59.variant21 21 rs370142822
dbSNP Clinvar
19161570 3479.0 TC T,... PASS 1/4 104 None None None 0.54633 0.54630 None None None None None None C21orf91|0.173207879|39.92%
View combined sample_59.variant21 1 rs760537672
dbSNP Clinvar
62702803 120.91 CTTTT CT... PASS 1/4 8 None None None None None None None None None KANK4|0.062859636|59.12%
View combined sample_59.variant21 1 rs67506479
dbSNP Clinvar
197476279 149.44 CA... C,... PASS 1/4 10 None None None None None None None None None DENND1B|0.490308785|16.31%
View combined sample_59.variant21 2 . 158271093 505.2 CA... CA... PASS 1/4 34 None None None None None None None None None None
View combined sample_59.variant21 3 . 29322605 90.8 GT GT... PASS 1/4 22 None None None None None None None None None RBMS3|0.934703314|2.66%
View combined sample_59.variant21 7 rs879221934
dbSNP Clinvar
65552230 944.16 CG... CG... PASS 1/4 57 None None None None None None None None None ASL|0.442057983|18.56%
View combined sample_59.variant21 9 rs71323911,rs1973389
dbSNP Clinvar
14775729 1453.01 A G,... PASS 1/4 10 None None None 0.76977 None None None None None None FREM1|0.310358547|26.81%
View combined sample_59.variant21 12 rs544992054
dbSNP Clinvar
1703322 2566.45 AGCC AG... PASS 1/4 63 None None None None None None None None None WNT5B|0.180614898|38.96%,FBXL14|0.195540464|37.21%
View combined sample_59.variant21 12 rs753312227,rs10651702
dbSNP Clinvar
118406110 127.34 A AG... PASS 1/4 35 None None None None None None None None None KSR2|0.376897848|22.26%
View combined sample_59.variant21 19 rs796784642,rs61178346
dbSNP Clinvar
13323641 211.5 TAC TA... PASS 1/4 22 None None None None None None None None None CACNA1A|0.210424701|35.52%
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