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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:

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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: 21
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_97.variant42 1 rs200193486
dbSNP Clinvar 		7828173 988.58 TA... TA... PASS 4/2 45 None None None None None None None None None CAMTA1|0.951338773|2.22%
View combined sample_97.variant42 2 rs879025190
dbSNP Clinvar 		40339798 1312.99 CA C,... PASS 4/2 127 None None None None None None None None None SLC8A1|0.791143716|6.09%
View combined sample_97.variant42 3 rs148503675
dbSNP Clinvar 		13858920 571.15 TA... TA... PASS 4/2 38 None None None None None None None None None WNT7A|0.398025422|20.9%
View combined sample_97.variant42 8 rs35041148,rs386412740,rs386412741,rs71237245
dbSNP Clinvar 		52730969 3407.28 C CA... PASS 4/2 124 None None None None None None None None None PCMTD1|0.383110671|21.84%
View combined sample_97.variant42 8 rs535797568
dbSNP Clinvar 		99121075 102.72 TAAA TA... PASS 4/2 17 None None None 0.00240 0.00240 None None None None None None HRSP12|0.064966454|58.65%
View combined sample_97.variant42 9 rs373107249,rs58656596
dbSNP Clinvar 		85861584 2886.1 T TC... PASS 4/2 47 None None None 0.17951 0.17950 None None None None None None FRMD3|0.315770078|26.36%
View combined sample_97.variant42 10 rs765829766
dbSNP Clinvar 		321410 2540.48 CTTT CT... PASS 4/2 153 None None None None None None None None None DIP2C|0.162764549|41.18%
View combined sample_97.variant42 1 . 45975088 859.22 GT GT... PASS 4/2 63 None None None None None None None None None MMACHC|0.08663014|53.83%
View combined sample_97.variant42 4 . 95508434 287.58 CAA CA... PASS 4/2 66 None None None None None None None None None PDLIM5|0.641612713|10.4%
View combined sample_97.variant42 8 rs796345487
dbSNP Clinvar 		41512648 2108.65 GGTGT GG... PASS 4/2 59 None None None None None None None None None ANK1|0.956309863|2.07%
View combined sample_97.variant42 10 rs578018975
dbSNP Clinvar 		117823548 1694.41 AA... AA... PASS 4/2 44 None None None 0.15635 0.15630 None None None None None None GFRA1|0.934619361|2.66%
View combined sample_97.variant42 10 . 122619466 231.46 TA... TA... PASS 4/2 15 None None None None None None None None None WDR11|0.176317325|39.5%
View combined sample_97.variant42 11 . 58384543 61.19 TTGTG TT... PASS 4/2 11 None None None None None None None None None ZFP91|0.329509893|25.51%
View combined sample_97.variant42 2 rs112733511,rs68081350
dbSNP Clinvar 		54896377 3316.09 A AT... PASS 4/2 87 None None None 0.21046 0.27500 None None None None None None SPTBN1|0.936130382|2.63%
View combined sample_97.variant42 5 rs796263180
dbSNP Clinvar 		160972443 645.31 TAA TA... PASS 4/2 53 None None None None None None None None None GABRB2|0.654745472|9.91%
View combined sample_97.variant42 5 rs878881390
dbSNP Clinvar 		7891402 51.3 ATTT AT... PASS 4/2 14 None None None None None None None None None MTRR|0.020823988|73.75%
View combined sample_97.variant42 5 . 136833955 234.61 CCACA CC... PASS 4/2 37 None None None None None None None None None SPOCK1|0.63191047|10.71%
View combined sample_97.variant42 10 . 114903859 54.41 CT... CT... PASS 4/2 26 None None None None None None None None None TCF7L2|0.99579985|0.77%
View combined sample_97.variant42 18 rs143503551,rs4020105
dbSNP Clinvar 		67509199 7908.91 C CG... PASS 4/2 174 None None None None None None None None None DOK6|0.414097507|19.92%,CD226|0.|85.1%
View combined sample_97.variant42 19 . 58201740 2589.74 TA... TA... PASS 4/2 52 None None None None None None None None None ZNF551|0.000627185|97.7%
View combined sample_97.variant42 X rs879971048
dbSNP Clinvar 		77302385 173.25 CA C,... PASS 4/2 70 None None None None None None None None None ATP7A|0.267298986|30.07%
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