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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

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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 8

+ Genes associated with diseases 3

Genes at Omim

ARHGEF10, MAFA, TEX15,
ARHGEF10 ?Slowed nerve conduction velocity, AD, 608236 (3)
MAFA Insulinomatosis and diabetes mellitus, 147630 (3)
TEX15 Spermatogenic failure 25, 617960 (3)

Genes at Clinical Genomics Database

ARHGEF10,
ARHGEF10 Slowed nerve conduction velocity, autosomal dominant (Hereditary motor and sensory neuropathy)

Genes at HGMD

Summary

Number of Variants: 994
Number of Genes: 8

Export to: CSV

ARHGEF10
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 37-g0191 raw_variants 8 . 1876755 80.77 T G . 0/1 13 SYNONYMOUS_CODING LOW None None None None None None None ARHGEF10|0.010635325|80.42%

DEFB136
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 37-g0191 raw_variants 8 . 11831610 723.77 G C . 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.91 None None None None None None DEFB136|0.000613592|97.85%
View 37-g0191 raw_variants 8 . 11831499 548.73 CTCT C . 0/1 37 CODON_DELETION MODERATE None None None None None None None DEFB136|0.000613592|97.85%

GML
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 37-g0191 raw_variants 8 . 143921861 840.77 A G . 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.00 None None None None None None GML|0.000127964|99.9%

MAFA
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 37-g0191 raw_variants 8 . 144511657 712.77 C T . 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None MAFA|0.102304679|50.74%
View 37-g0191 raw_variants 8 . 144512433 820.77 C T . 0/1 54 SYNONYMOUS_CODING LOW None None None None None None None MAFA|0.102304679|50.74%
View 37-g0191 raw_variants 8 . 144512253 597.77 A G . 0/1 46 SYNONYMOUS_CODING LOW None None None None None None None MAFA|0.102304679|50.74%
View 37-g0191 raw_variants 8 . 144511903 525.77 G A . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.80 None None None None None None MAFA|0.102304679|50.74%
View 37-g0191 raw_variants 8 . 144512131 658.77 G A . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.31 0.02 None None None None None None MAFA|0.102304679|50.74%

MTUS1
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 37-g0191 raw_variants 8 . 17554782 301.73 TTTC T . 0/1 18 None None None None None None None None None MTUS1|0.029314475|69.7%

TEX15
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 37-g0191 raw_variants 8 rs759689152
dbSNP Clinvar 		30703202 517.77 C T . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.24 0.14 None None None None None None TEX15|0.007143478|83.35%

UBR5
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 37-g0191 raw_variants 8 . 103324444 297.77 G A . 0/1 23 SYNONYMOUS_CODING LOW None None None None None None None UBR5|0.954482711|2.1%

WHSC1L1
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 37-g0191 raw_variants 8 . 38146269 187.77 T C . 0/1 20 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None WHSC1L1|0.701625331|8.45%
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 37-g0191 raw_variants 8 . 143805542 75.77 G A . 0/1 6 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143805486 247.77 A G . 0/1 14 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143804458 172.77 C T . 0/1 13 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143803410 2255.77 A G . 1/1 57 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143792384 1604.77 T C . 1/1 45 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143792196 1240.77 T C . 1/1 37 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143791962 114.73 A AC . 0/1 21 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143791827 43.31 A C . 0/1 2 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143791609 668.77 G A . 1/1 18 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143791496 274.77 G C . 0/1 23 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143778707 504.77 A G . 0/1 45 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143778627 150.77 G A . 0/1 19 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143729461 40.77 C G . 0/1 4 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143729168 1630.77 C G . 1/1 44 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143729108 632.77 G A . 0/1 36 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143728800 336.77 C G . 0/1 17 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143727968 734.77 G A . 0/1 47 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143727634 2156.77 G A . 1/1 56 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143726577 922.77 G A . 0/1 60 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143725833 410.77 G C . 1/1 11 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143577876 1680.77 G A . 1/1 46 None None None None None None None None None ADGRB1|0.079978463|55.17%
View 37-g0191 raw_variants 8 . 143576048 43.77 A C . 0/1 5 None None None None None None None None None ADGRB1|0.079978463|55.17%
View 37-g0191 raw_variants 8 . 143576044 53.77 A C . 0/1 6 None None None None None None None None None ADGRB1|0.079978463|55.17%
View 37-g0191 raw_variants 8 . 143575631 1071.77 G A . 1/1 29 None None None None None None None None None ADGRB1|0.079978463|55.17%
View 37-g0191 raw_variants 8 . 143429825 1153.77 A G . 1/1 33 None None None None None None None None None TSNARE1|0.007832478|82.73%
View 37-g0191 raw_variants 8 . 143429783 538.73 ATGG A . 1/1 13 None None None None None None None None None TSNARE1|0.007832478|82.73%
View 37-g0191 raw_variants 8 . 143215153 1181.77 T C . 1/1 30 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 143213308 1421.77 T G . 1/1 38 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142917246 577.77 G A . 0/1 26 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142917010 342.77 C T . 0/1 22 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142914345 2236.77 C T . 1/1 61 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142913566 457.73 A ACG . 1/1 11 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142913562 457.73 CAAA C . 1/1 11 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142913528 443.77 T G . 0/1 21 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142913286 520.77 G T . 0/1 50 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142879589 604.77 T C . 0/1 39 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142879181 556.77 G A . 0/1 35 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142876470 72.77 A C . 0/1 7 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142876440 83.77 G A . 0/1 14 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142875989 31.77 A C . 0/1 7 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142874831 99.77 G C . 0/1 9 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142741306 288.77 A G . 0/1 17 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142664652 119.03 C T . 1/1 4 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142664633 171.9 T C . 1/1 5 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 142658755 124.03 G A . 1/1 4 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 140435250 904.73 AA... A . 1/1 22 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 140300545 1017.77 G A . 0/1 73 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 140287514 254.77 T C . 0/1 15 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 140024225 28.78 C T . 0/1 3 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 140024092 402.77 A T . 0/1 27 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 139988737 1346.77 A G . 0/1 70 None None None None None None None None None None
View 37-g0191 raw_variants 8 rs937885052
dbSNP Clinvar 		139730957 81.77 G A . 0/1 4 None None None None None None None None None COL22A1|0.06710202|58.12%
View 37-g0191 raw_variants 8 . 139618747 701.77 A G . 0/1 38 None None None None None None None None None COL22A1|0.06710202|58.12%
View 37-g0191 raw_variants 8 . 137282258 50.74 T C . 1/1 2 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134712811 65.77 A C . 0/1 9 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134712804 62.73 CA C . 0/1 7 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134657550 46.77 A C . 0/1 29 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134610397 444.77 T C . 1/1 12 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134608651 674.77 T G . 1/1 18 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134602729 2388.77 A G . 1/1 62 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134602462 2066.77 A G . 1/1 55 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134601381 456.77 A G . 1/1 12 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134601354 208.84 T C . 1/1 6 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134601338 100.03 C T . 1/1 4 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134600502 2272.77 A G . 1/1 59 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134600352 412.77 A G . 1/1 12 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134590338 1298.77 A G . 1/1 36 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134588562 54.74 T G . 1/1 2 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134588473 538.77 C G . 1/1 16 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 134583789 455.77 C T . 0/1 25 None None None None None None None None None ST3GAL1|0.053410198|61.67%
View 37-g0191 raw_variants 8 . 134565290 650.77 T G . 1/1 14 None None None None None None None None None ST3GAL1|0.053410198|61.67%
View 37-g0191 raw_variants 8 . 134565287 650.77 G A . 1/1 16 None None None None None None None None None ST3GAL1|0.053410198|61.67%
View 37-g0191 raw_variants 8 . 134521022 115.73 TA T . 0/1 48 None None None None None None None None None ST3GAL1|0.053410198|61.67%
View 37-g0191 raw_variants 8 . 134512695 124.77 T C . 0/1 9 None None None None None None None None None ST3GAL1|0.053410198|61.67%
View 37-g0191 raw_variants 8 . 134512690 115.77 G A . 0/1 12 None None None None None None None None None ST3GAL1|0.053410198|61.67%
View 37-g0191 raw_variants 8 . 134512554 782.77 G T . 0/1 64 None None None None None None None None None ST3GAL1|0.053410198|61.67%
View 37-g0191 raw_variants 8 . 133463577 322.78 C T . 1/1 9 None None None None None None None None None KCNQ3|0.416777489|19.77%
View 37-g0191 raw_variants 8 . 133280273 383.77 A G . 0/1 35 None None None None None None None None None KCNQ3|0.416777489|19.77%
View 37-g0191 raw_variants 8 . 98134377 302.77 A C . 0/1 26 None None None None None None None None None CPQ|0.160118797|41.51%
View 37-g0191 raw_variants 8 . 98127382 49.74 C T . 1/1 2 None None None None None None None None None CPQ|0.160118797|41.51%
View 37-g0191 raw_variants 8 . 96231492 456.77 G A . 0/1 18 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 95057953 1885.77 T C . 1/1 48 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 95057745 20.77 G GT . 0/1 14 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 95041772 175.9 C T . 1/1 5 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 95041554 1802.73 GCT G . 1/1 42 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 95035578 391.73 T TA . 0/1 40 None None None None None None None None None None
View 37-g0191 raw_variants 8 . 94467651 66.77 A G . 0/1 9 None None None None None None None None None None