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: 22
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_43.variant7 2 rs769332760,rs869071014
dbSNP Clinvar
228846767 165.02 ATTTT AT... PASS 4/1 11 None None None None None None None None None SPHKAP|0.020166636|74.1%
View combined sample_43.variant7 5 . 60453817 1496.16 TACAC TA... PASS 4/1 37 None None None None None None None None None SMIM15|0.298449049|27.75%
View combined sample_43.variant7 5 rs563628023
dbSNP Clinvar
112361289 368.12 CA CA... PASS 4/1 59 None None None 0.14796 0.14800 None None None None None None MCC|0.469013944|17.21%
View combined sample_43.variant7 6 rs563592990,rs878927371
dbSNP Clinvar
39053942 185.97 GA... GA... PASS 4/1 21 None None None 0.36282 0.36280 None None None None None None GLP1R|0.643264325|10.34%
View combined sample_43.variant7 6 . 154610898 2110.01 GAAAA GA... PASS 4/1 124 None None None None None None None None None IPCEF1|0.117169041|47.92%
View combined sample_43.variant7 8 rs71582022
dbSNP Clinvar
139688697 552.6 A AA... PASS 4/1 9 None None None None None None None None None COL22A1|0.06710202|58.12%
View combined sample_43.variant7 9 rs375745414
dbSNP Clinvar
5919543 758.46 A AA... PASS 4/1 36 None None None None None None None None None KIAA2026|0.200524934|36.71%
View combined sample_43.variant7 11 rs774690519
dbSNP Clinvar
123431391 543.08 CG... CG... PASS 4/1 18 None None None None None None None None None GRAMD1B|0.26764519|30.05%
View combined sample_43.variant7 13 . 42894042 4814.71 GG... GG... PASS 4/1 116 None None None None None None None None None AKAP11|0.091513313|52.94%
View combined sample_43.variant7 17 . 40359505 488.51 GC... GC... PASS 4/1 47 None None None None None None None None None STAT5B|0.791650824|6.07%
View combined sample_43.variant7 21 rs148015529
dbSNP Clinvar
15663777 1087.33 AG... AG... PASS 4/1 21 None None None 0.30550 None None None None None None None
View combined sample_43.variant7 12 rs796951200
dbSNP Clinvar
72023336 1609.67 TAC TA... PASS 4/1 34 None None None None None None None None None ZFC3H1|0.260866515|30.66%
View combined sample_43.variant7 12 rs63397860,rs60146346
dbSNP Clinvar
79843703 2626.04 CGTGT CG... PASS 4/1 85 None None None None None None None None None SYT1|0.883250678|3.9%
View combined sample_43.variant7 15 . 101561980 336.13 CG... CG... PASS 4/1 30 None None None None None None None None None LRRK1|0.08489041|54.22%
View combined sample_43.variant7 1 rs113491600,rs10528066
dbSNP Clinvar
204988603 727.14 C CC... PASS 4/1 43 None None None 0.69880 None None None None None None NFASC|0.566567202|13.14%
View combined sample_43.variant7 2 rs398042385
dbSNP Clinvar
29023092 578.73 CTTT CT... PASS 4/1 45 None None None None None None None None None PPP1CB|0.857866317|4.52%,SPDYA|0.390096414|21.42%
View combined sample_43.variant7 5 . 9036071 1256.3 CA CA... PASS 4/1 79 None None None None None None None None None SEMA5A|0.315509629|26.39%
View combined sample_43.variant7 6 . 13363443 1078.97 CTGTG CT... PASS 4/1 66 None None None None None None None None None GFOD1|0.361383282|23.35%
View combined sample_43.variant7 8 rs201964249
dbSNP Clinvar
133140754 1590.94 AT... AT... PASS 4/1 51 None None None None None None None None None KCNQ3|0.416777489|19.77%
View combined sample_43.variant7 9 . 87475806 269.74 GT... GT... PASS 4/1 13 None None None None None None None None None NTRK2|0.922283542|2.93%
View combined sample_43.variant7 10 . 72509364 423.74 AG... AG... PASS 4/1 8 None None None None None None None None None ADAMTS14|0.04385867|64.56%
View combined sample_43.variant7 22 rs772607434
dbSNP Clinvar
50966197 431.29 CT... CT... PASS 4/1 35 None None None None None None None None None TYMP|0.035686817|67.24%
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