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 at Omim

ASPN, BARD1, CHD1, MAP3K1, MSH3, TMIE,
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
CHD1 Pilarowski-Bjornsson syndrome, 617682 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MSH3 Endometrial carcinoma, somatic, 608089 (3)
Familial adenomatous polyposis 4, 617100 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)

Genes at Clinical Genomics Database

BARD1, MAP3K1, MSH3, TMIE,
BARD1 Breast cancer, susceptibility to
MAP3K1 46,XY sex reversal 6
MSH3 Endometrial carcinoma
TMIE Deafness, autosomal recessive 6

Genes at HGMD

Summary

Number of Variants: 31
Number of Genes: 30

Export to: CSV
  • Page 1 of 1

ASPN

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 sp16_multisample SP16_819 9 rs878983183
dbSNP Clinvar
95237024 237.94 CT... CT... PASS 1/1 59 CODON_DELETION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

BARD1

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 sp16_multisample SP16_819 2 rs28997575,rs587781282
dbSNP Clinvar
215645502 22.21 GT... G PASS 0/1 45 CODON_DELETION MODERATE None 0.04473 0.04473 None None None None None None BARD1|0.230178617|33.35%

C19orf33

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 sp16_multisample SP16_819 19 rs765192304
dbSNP Clinvar
38795565 30.0 CA... C PASS 0/1 91 CODON_DELETION MODERATE None None None None None None None C19orf33|0.001107009|94.9%
View sp16_multisample SP16_819 19 rs201974576
dbSNP Clinvar
38795580 31.8 CAAG C PASS 0/1 89 CODON_DELETION MODERATE None 0.02736 0.02736 0.04169 None None None None None None C19orf33|0.001107009|94.9%

CCDC33

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 sp16_multisample SP16_819 15 rs10552820,rs35899977,rs397774110
dbSNP Clinvar
74536400 972.02 TAAG T PASS 1/1 157 CODON_DELETION MODERATE None 0.37700 0.37700 0.46150 None None None None None None CCDC33|0.011870787|79.31%

CHD1

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 sp16_multisample SP16_819 5 rs138635992
dbSNP Clinvar
98192164 131.87 AAGG A PASS 0/1 80 CODON_DELETION MODERATE None 0.21266 0.21270 0.29454 None None None None None None CHD1|0.573996389|12.85%

DENND4B

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 sp16_multisample SP16_819 1 . 153907278 614.04 CC... CC... PASS 1/2 105 CODON_DELETION MODERATE None None None None None None None DENND4B|0.160276064|41.5%

EVA1A

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 sp16_multisample SP16_819 2 rs148155576
dbSNP Clinvar
75720568 194.78 CG... C PASS 0/1 113 CODON_DELETION MODERATE None 0.04413 0.04413 0.05919 None None None None None None EVA1A|0.072029356|56.98%

FBXL21

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 sp16_multisample SP16_819 5 rs1160982,rs568134250
dbSNP Clinvar
135276201 412.28 AGTT A PASS 1/1 115 CODON_DELETION MODERATE None 0.73423 0.73420 0.30509 None None None None None None LECT2|0.064888014|58.67%

GPR112

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 sp16_multisample SP16_819 X rs34255702,rs563570937
dbSNP Clinvar
135474444 184.13 AGAT A PASS 0/1 129 CODON_DELETION MODERATE None 0.73722 0.73720 0.36492 None None None None None None ADGRG4|0.00835627|82.29%

IGSF9

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 sp16_multisample SP16_819 1 rs374964822
dbSNP Clinvar
159898192 61.32 AA... A PASS 0/1 60 CODON_DELETION MODERATE None 0.00679 0.00679 None None None None None None IGSF9|0.062403105|59.21%

LRRC17

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 sp16_multisample SP16_819 7 rs3832497,rs531650613
dbSNP Clinvar
102574999 149.01 TGAA T PASS 1/1 67 CODON_DELETION MODERATE None 0.63179 0.63180 0.25633 None None None None None None FBXL13|0.013552601|78.17%,LRRC17|0.102449665|50.7%

MAML3

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 sp16_multisample SP16_819 4 rs5862430,rs758674725,rs397881377,rs3051167
dbSNP Clinvar
140651584 321.14 TCTG T PASS 1/1 69 CODON_DELETION MODERATE None 0.99101 0.99100 None None None None None None MGST2|0.034049931|67.77%,MAML3|0.444017284|18.48%

MAP3K1

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 sp16_multisample SP16_819 5 rs781325505,rs532800605
dbSNP Clinvar
56177848 175.24 TC... TC... PASS 1/1 40 CODON_DELETION MODERATE None 0.26160 None None None None None None MAP3K1|0.554683454|13.53%

MAP7D1

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 sp16_multisample SP16_819 1 rs141305015,rs3045695
dbSNP Clinvar
36643700 29.06 GAGA G PASS 0/1 46 CODON_DELETION MODERATE None 0.06450 0.06450 0.03988 None None None None None None MAP7D1|0.14888564|43.16%

MSH3

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 sp16_multisample SP16_819 5 rs144629981,rs3045983
dbSNP Clinvar
79950741 448.37 GC... G,... PASS 1/2 43 CODON_DELETION MODERATE None 0.23443 0.23440 0.30955 None None None None None None DHFR|0.849258328|4.67%,MSH3|0.44757189|18.27%

NINL

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 sp16_multisample SP16_819 20 rs68078266,rs34410422
dbSNP Clinvar
25457049 219.37 GC... G PASS 0/1 47 CODON_DELETION MODERATE None 0.55731 0.55730 0.42148 None None None None None None NINL|0.010538639|80.48%

NUMBL

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 sp16_multisample SP16_819 19 . 41173893 112.46 TG... TG... PASS 0/1 19 CODON_DELETION MODERATE None None None None None None None NUMBL|0.139631884|44.46%

PIK3C2G

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 sp16_multisample SP16_819 12 rs35277916,rs796435817
dbSNP Clinvar
18435398 80.58 GCCC G PASS 0/1 120 CODON_DELETION MODERATE None 0.30831 0.30830 0.34238 None None None None None None RERGL|0.064599802|58.71%,PIK3C2G|0.036855769|66.84%

PLK5

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 sp16_multisample SP16_819 19 rs58035688,rs796379895
dbSNP Clinvar
1535193 411.43 GCCC G PASS 1/1 96 CODON_DELETION MODERATE None 0.45867 0.45870 None None None None None None PLK5|0.003429971|87.9%

PRSS3

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 sp16_multisample SP16_819 9 rs143332708,rs3831310
dbSNP Clinvar
33796690 354.3 TGAG T PASS 0/1 178 CODON_DELETION MODERATE None 0.13898 0.13900 0.13668 None None None None None None PRSS3|0.009331176|81.43%

RFPL1

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 sp16_multisample SP16_819 22 rs71324764,rs3842466
dbSNP Clinvar
29837566 168.05 TTCC T PASS 0/1 241 CODON_DELETION MODERATE None 0.26677 0.26680 0.35245 None None None None None None RFPL1|0.000705614|97.22%

TDRD3

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 sp16_multisample SP16_819 13 rs148917045,rs75684327
dbSNP Clinvar
61102575 48.64 GATA G PASS 0/1 86 CODON_DELETION MODERATE None 0.12061 0.12060 0.14451 None None None None None None TDRD3|0.391554966|21.3%

THAP11

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 sp16_multisample SP16_819 16 rs377516180
dbSNP Clinvar
67876823 275.44 ACAG A,... PASS 1/2 45 CODON_DELETION MODERATE None None None None None None None CENPT|0.023116671|72.61%,THAP11|0.375340768|22.39%

TMIE

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 sp16_multisample SP16_819 3 rs10578999,rs397817178
dbSNP Clinvar
46751073 46.58 TAAG T PASS 0/1 60 CODON_DELETION MODERATE None 0.75320 None None None None None None TMIE|0.142194222|44.12%

TP53TG5

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 sp16_multisample SP16_819 20 rs10546815,rs562359566
dbSNP Clinvar
44004155 793.79 CATT C PASS 1/1 146 CODON_DELETION MODERATE None 0.38658 0.38660 0.48961 None None None None None None SYS1|0.552810093|13.61%,TP53TG5|0.004045663|86.94%

TSPYL6

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 sp16_multisample SP16_819 2 rs796797230,rs779914539,rs76397255
dbSNP Clinvar
54482703 30.94 GG... G PASS 0/1 23 CODON_DELETION MODERATE None 0.15935 0.15930 0.18234 None None None None None None ACYP2|0.067344086|58.08%,TSPYL6|0.001250679|94.15%

USP20

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 sp16_multisample SP16_819 9 rs10602985,rs760862530,rs398096692
dbSNP Clinvar
132630664 334.16 TGAC T PASS 0/1 122 CODON_DELETION MODERATE None 0.84864 0.84860 0.19048 None None None None None None USP20|0.195223584|37.23%

ZNF283

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 sp16_multisample SP16_819 19 rs79626467,rs71907168
dbSNP Clinvar
44351166 46.85 GG... G PASS 0/1 100 CODON_DELETION MODERATE None 0.38778 0.38780 0.38758 None None None None None None ZNF283|0.014136174|77.77%

ZNF284

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 sp16_multisample SP16_819 19 rs139900131,rs369411341
dbSNP Clinvar
44589999 486.2 TCTC T PASS 0/1 124 CODON_DELETION MODERATE None 0.45088 0.45090 0.44731 None None None None None None ZNF284|0.000961429|95.72%

ZNF683

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 sp16_multisample SP16_819 1 rs144078461,rs372936882
dbSNP Clinvar
26691286 53.72 CC... C PASS 0/1 34 CODON_DELETION MODERATE None 0.15276 0.15280 0.14839 None None None None None None ZNF683|0.003270064|88.15%
  • Page 1 of 1