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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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 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

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 19
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 62408779_s7 mvar 62408779_S7.SAMTOOLS 1 rs386628364
dbSNP Clinvar 		9714538 2310.73 GT... GG... PASS 3/3 5 None None None None None None None None None PIK3CD|0.977549203|1.53%,PIK3CD-AS1|0.000398247|98.96%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 1 . 237955649 99.25 CT... CT... PASS 3/3 4 None None None None None None None None None RYR2|0.544008282|14.03%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 2 . 74649920 43.3 CC CA... PASS 3/3 3 None None None None None None None None None WDR54|0.086822838|53.8%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 5 . 4702311 303.51 CT... CT... PASS 3/3 25 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 5 . 137847080 120.73 CA... CA... PASS 3/3 3 None None None None None None None None None ETF1|0.922396234|2.93%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 10 . 135105955 575.9 TC... TC... PASS 3/3 7 None None None None None None None None None TUBGCP2|0.131452902|45.7%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 19 . 16186813 270.73 AC... AC... PASS 3/3 52 None None None None None None None None None TPM4|0.108056274|49.56%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 5 . 41005527 353.74 CT CT... PASS 3/3 2 None None None None None None None None None MROH2B|0.069922794|57.5%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 6 rs398124248
dbSNP Clinvar 		108243119 113.73 GA... G,... PASS 3/3 6 None None None None None None None None None SEC63|0.687731816|8.89%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 7 . 151668180 140.14 CT... CT... PASS 3/3 4 None None None None None None None None None GALNTL5|0.001268389|94.06%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 11 . 72307501 170.73 AT... AT... PASS 3/3 5 None None None None None None None None None PDE2A|0.280547949|29.06%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 12 . 130015535 230.73 GA... GA... PASS 3/3 13 None None None None None None None None None TMEM132D|0.011740476|79.41%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 2 rs386648371
dbSNP Clinvar 		96687426 1643.73 CTGC CG... PASS 3/3 39 None None None None None None None None None None
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 2 . 215013799 32.71 GTG GT... PASS 3/3 4 None None None None None None None None None SPAG16|0.387079371|21.61%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 4 . 57871748 185.14 CT... CT... PASS 3/3 12 None None None None None None None None None POLR2B|0.866806985|4.32%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 11 . 102199589 99.33 TT... TT... PASS 3/3 4 None None None None None None None None None BIRC3|0.097528275|51.61%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 11 . 104819542 675.73 GAGAG GA... PASS 3/3 13 None None None None None None None None None CASP4|0.002766016|89.1%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 16 rs373358327
dbSNP Clinvar 		57847634 816.73 AC AT... PASS 3/3 59 None None None None None None None None None KIFC3|0.134465074|45.19%
View 62408779_s7 mvar 62408779_S7.SAMTOOLS 19 . 991196 4725.73 CG... CC... PASS 3/3 98 None None None None None None None None None WDR18|0.054026094|61.45%
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