+ Filter Options

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 3

Genes:
BRCA1, BRCA2, CFTR,

+ Genes associated with diseases 3

Genes at Omim

BRCA1, BRCA2, CFTR,
BRCA1 {Breast-ovarian cancer, familial, 1}, 604370 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
Fanconi anemia, complementation group S, 617883 (3)
BRCA2 {Breast-ovarian cancer, familial, 2}, 612555 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
Fanconi anemia, complementation group D1, 605724 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
CFTR {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
{Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)

Genes at Clinical Genomics Database

BRCA1, BRCA2, CFTR,
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRCA2 Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma
CFTR Cystic fibrosis

Genes at HGMD

Summary

Number of Variants: 87
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

BRCA1
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 1_s1 genome 17 . 41246600 239.86 G T LowVariantFreq 0/1 321 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.48 None None None None None None None
View 1_s1 genome 17 . 41246605 1041.52 T A LowVariantFreq 0/1 331 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 None None None None None None None

BRCA2
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 1_s1 genome 13 . 32911258 494.5 C G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None
View 1_s1 genome 13 . 32911259 491.49 A G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.50 0.01 None None None None None None None
View 1_s1 genome 13 . 32912516 3.99 A T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.87 None None None None None None None
View 1_s1 genome 13 . 32929184 443.62 T C PASS 0/1 74 SYNONYMOUS_CODING LOW None None None None None None None None
View 1_s1 genome 13 . 32912595 4.59 T C LowGQX 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.27 None None None None None None None
View 1_s1 genome 13 . 32910602 259.64 C A LowVariantFreq 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.34 None None None None None None None

CFTR
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 1_s1 genome 7 . 117144352 6.74 A G LowGQX 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None None
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 1_s1 genome 1 . 151413712 50.51 T C LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 1 . 151414384 75.86 A G LowGQ 0/1 5 None None None None None None None None None None
View 1_s1 genome 1 . 151414391 267.75 T TG PASS 0/1 39 None None None None None None None None None None
View 1_s1 genome 13 . 32930503 14.92 G A LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32930829 14.32 T A LowVariantFreq 0/1 43 None None None None None None None None None None
View 1_s1 genome 13 . 32932122 14.92 T G LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32936945 102.27 C G LowGQX;LowGQ 1/1 6 None None None None None None None None None None
View 1_s1 genome 13 . 32937844 298.03 G T LowGQ 1/1 12 None None None None None None None None None None
View 1_s1 genome 13 . 32973049 318.6 T G LowGQ 1/1 11 None None None None None None None None None None
View 1_s1 genome 17 . 41197494 14.92 T C LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 17 . 41197498 3.99 A C LowGQX 0/1 3 None None None None None None None None None None
View 1_s1 genome 17 . 41197882 175.53 C T LowGQ 1/1 8 None None None None None None None None None None
View 1_s1 genome 17 . 41199759 175.5 A T LowGQ 1/1 9 None None None None None None None None None None
View 1_s1 genome 17 . 41201039 412.66 G A PASS 1/1 17 None None None None None None None None None None
View 1_s1 genome 17 . 41201290 458.84 A T PASS 0/1 30 None None None None None None None None None None
View 1_s1 genome 17 . 41201291 39.72 T G PASS 0/1 5 None None None None None None None None None None
View 1_s1 genome 17 . 41202968 138.8 C A LowGQ 1/1 7 None None None None None None None None None None
View 1_s1 genome 17 . 41209245 11.55 G T LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 1_s1 genome 17 . 41215240 7.78 A C LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 1_s1 genome 17 . 41215510 14.92 C T LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 17 . 41219570 93.63 C A LowGQX;LowGQ 1/1 5 None None None None None None None None None None
View 1_s1 genome 17 . 41226288 44.2 T C LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 17 . 41226289 92.75 T C LowGQX;LowGQ 1/1 4 None None None None None None None None None None
View 1_s1 genome 17 . 41228669 7.48 T A LowGQX;LowVariantFreq 0/1 28 None None None None None None None None None None
View 1_s1 genome 17 . 41243248 165.42 A T LowGQ 1/1 6 None None None None None None None None None None
View 1_s1 genome 1 . 151380066 158.39 A G LowVariantFreq 0/1 264 None None None None None None None None None None
View 1_s1 genome 1 . 151381549 3.48 T C LowGQX;LowVariantFreq 0/1 54 None None None None None None None None None None
View 1_s1 genome 1 . 151381554 136.92 T C PASS 0/1 9 None None None None None None None None None None
View 1_s1 genome 1 . 151383828 316.91 A AG PASS 0/1 37 None None None None None None None None None None
View 1_s1 genome 1 . 151384053 770.37 A . PASS 0 334 None None None 0.31019 None None None None None None None
View 1_s1 genome 1 . 151396981 53.96 T C LowVariantFreq 0/1 72 None None None None None None None None None None
View 1_s1 genome 1 . 151397351 5.18 C G LowGQX;LowVariantFreq 0/1 37 None None None None None None None None None None
View 1_s1 genome 1 . 151401069 416.68 T C PASS 0/1 60 None None None None None None None None None None
View 1_s1 genome 1 . 151401601 869.69 A . PASS 0 374 None None None 0.50939 0.50940 None None None None None None None
View 1_s1 genome 1 . 151401632 0.0 A . PASS 0 511 None None None None None None None None None None
View 1_s1 genome 1 . 151403335 2118.8 A . PASS 0 990 None None None 0.11590 None None None None None None None
View 1_s1 genome 1 . 151403381 0.0 T . LowGQX . 355 None None None None None None None None None None
View 1_s1 genome 1 . 151403382 0.0 T . LowGQX . 335 None None None None None None None None None None
View 1_s1 genome 1 . 151403383 0.0 T . LowGQX . 327 None None None None None None None None None None
View 1_s1 genome 1 . 151403384 0.0 A . LowGQX . 315 None None None None None None None None None None
View 1_s1 genome 1 . 151403385 0.0 T . LowGQX . 309 None None None None None None None None None None
View 1_s1 genome 7 . 117175579 7857.46 ATT A R8 0/1 1737 None None None None None None None None None None
View 1_s1 genome 7 . 117175580 2077.48 T . PASS 0 898 None None None None None None None None None None
View 1_s1 genome 7 . 117175581 2985.17 T . PASS 0 1309 None None None None None None None None None None
View 1_s1 genome 7 . 117307287 1429.11 T . PASS 0 563 None None None 0.49800 0.49800 None None None None None None None
View 1_s1 genome 13 . 32890756 80.54 C G LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 13 . 32899058 50.51 G A LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 13 . 32900582 85.84 T A LowGQX;LowGQ 1/1 4 None None None None None None None None None None
View 1_s1 genome 13 . 32903803 9.15 T G LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 1_s1 genome 13 . 32915411 731.29 A . PASS 0 359 None None None 0.26578 0.26580 None None None None None None None
View 1_s1 genome 13 . 32915412 713.15 A . PASS 0 353 None None None 0.26578 0.26580 None None None None None None None
View 1_s1 genome 13 . 32915413 0.0 T G SiteConflict;LowGQX . 315 None None None 0.26578 0.26580 None None None None None None None
View 1_s1 genome 13 . 32915414 505.56 T . PASS 0 259 None None None 0.26578 0.26580 None None None None None None None
View 1_s1 genome 13 . 32918522 137.95 A C LowGQ 1/1 7 None None None None None None None None None None
View 1_s1 genome 13 . 32945021 81.35 T A LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 13 . 32945411 90.54 G T LowGQX;LowGQ 1/1 4 None None None None None None None None None None
View 1_s1 genome 13 . 32945415 50.51 C G LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 13 . 32950708 44.35 T C LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32950709 48.77 T C LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32951010 14.92 G T LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32953351 4.59 C G LowGQX 0/1 8 None None None None None None None None None None
View 1_s1 genome 13 . 32953770 14.92 T A LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32954420 14.92 C T LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 13 . 32972170 4.59 T A LowGQX 0/1 7 None None None None None None None None None None
View 1_s1 genome 17 . 41247771 49.66 G A LowGQX;LowGQ 1/1 3 None None None None None None None None None None
View 1_s1 genome 17 . 41249223 7.08 A C LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 1_s1 genome 17 . 41252006 14.92 A T LowGQX;LowGQ 1/1 2 None None None None None None None None None None
View 1_s1 genome 17 . 41256695 10.43 C T LowGQX;LowGQ 1/1 1 None None None None None None None None None None
View 1_s1 genome 1 . 151403386 0.0 T . LowGQX . 300 None None None None None None None None None None
View 1_s1 genome 17 . 41256785 9.3 T C LowGQX 0/1 3 None None None None None None None None None None
View 1_s1 genome 1 . 151403387 0.0 T . LowGQX . 293 None None None None None None None None None None
View 1_s1 genome 1 . 151403388 0.0 T . LowGQX . 283 None None None None None None None None None None
View 1_s1 genome 1 . 151403389 0.0 A . LowGQX . 323 None None None None None None None None None None
View 1_s1 genome 1 . 151403390 0.0 T . LowGQX . 325 None None None None None None None None None None
View 1_s1 genome 1 . 151403391 0.0 T . LowGQX . 319 None None None None None None None None None None
View 1_s1 genome 1 . 151403392 0.0 T . LowGQX . 346 None None None None None None None None None None
View 1_s1 genome 1 . 151403393 0.0 T . LowGQX . 326 None None None None None None None None None None
View 1_s1 genome 1 . 151403394 0.0 A . LowGQX . 337 None None None None None None None None None None
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