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

BRCA2,
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)

Genes at Clinical Genomics Database

BRCA2,
BRCA2 Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma

Genes at HGMD

Summary

Number of Variants: 81
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

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 gen1 13 rs206075
dbSNP Clinvar
32913055 613.0 A G PASS 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.97404 0.97400 0.02423 None None None None None None None
View gen1 13 rs169547
dbSNP Clinvar
32929387 556.0 T C PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97584 0.97580 0.02230 1.00 0.00 None None None None None None None
View gen1 13 rs144848
dbSNP Clinvar
32906729 576.0 A C PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24940 0.24940 0.23321 0.06 0.86 None None None None None None None
View gen1 13 rs206076
dbSNP Clinvar
32915005 572.0 G C PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.00040 0.97360 0.02453 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 gen1 13 rs398022220
dbSNP Clinvar
32971706 898.0 AT A PASS 0/1 0 None None None 0.51198 0.51200 None None None None None None None
View gen1 13 rs206344
dbSNP Clinvar
32971425 599.0 T C PASS 1/1 42 None None None 0.97684 0.97680 None None None None None None None
View gen1 13 rs1012129
dbSNP Clinvar
32970736 195.0 G C PASS 0/1 43 None None None 0.51158 0.51160 None None None None None None None
View gen1 13 rs517118
dbSNP Clinvar
32970586 179.0 A G PASS 0/1 39 None None None 0.21006 0.21010 None None None None None None None
View gen1 13 rs66657277
dbSNP Clinvar
32970100 547.0 T TC PASS 0/1 0 None None None None None None None None None None
View gen1 13 rs1012130
dbSNP Clinvar
32970031 217.0 T C PASS 0/1 39 None None None 0.20487 0.20490 None None None None None None None
View gen1 13 rs7330025
dbSNP Clinvar
32968607 157.0 A G PASS 0/1 36 None None None 0.51158 0.51160 None None None None None None None
View gen1 13 rs7327867
dbSNP Clinvar
32968591 220.0 G A PASS 0/1 39 None None None 0.52776 0.52780 None None None None None None None
View gen1 13 rs9526165
dbSNP Clinvar
32967466 224.0 A G PASS 0/1 39 None None None 0.51178 0.51180 None None None None None None None
View gen1 13 rs34835575,rs768528898,rs560639422
dbSNP Clinvar
32966726 424.0 CAA CA,C PASS 1/2 0 None None None None None None None None None None
View gen1 13 rs206341
dbSNP Clinvar
32965651 482.0 T C PASS 1/1 33 None None None 0.97664 0.97660 None None None None None None None
View gen1 13 rs11571805
dbSNP Clinvar
32963947 173.0 A G PASS 0/1 33 None None None 0.02316 0.02316 None None None None None None None
View gen1 13 rs4942505
dbSNP Clinvar
32963707 256.0 C T PASS 0/1 46 None None None 0.52396 0.52400 None None None None None None None
View gen1 13 rs4942499
dbSNP Clinvar
32962318 186.0 T C PASS 0/1 32 None None None 0.51138 0.51140 None None None None None None None
View gen1 13 rs34184533,rs71071035,rs886039285
dbSNP Clinvar
32962258 1413.0 C CT PASS 1/1 0 None None None 0.66414 0.66410 None None None None None None None
View gen1 13 rs4570704
dbSNP Clinvar
32962088 234.0 C T PASS 0/1 41 None None None 0.51078 0.51080 None None None None None None None
View gen1 13 rs2100785
dbSNP Clinvar
32962045 268.0 A C PASS 0/1 43 None None None 0.50919 0.50920 None None None None None None None
View gen1 13 rs397751953
dbSNP Clinvar
32961189 1332.0 G GC PASS 1/1 0 None None None 0.97664 0.97660 None None None None None None None
View gen1 13 rs11147492
dbSNP Clinvar
32960363 169.0 T G PASS 0/1 38 None None None 0.52756 0.52760 None None None None None None None
View gen1 13 rs2238163
dbSNP Clinvar
32959839 115.0 A C PASS 0/1 33 None None None 0.51178 0.51180 None None None None None None None
View gen1 13 rs542551
dbSNP Clinvar
32959534 170.0 A G PASS 0/1 33 None None None 0.20927 0.20930 None None None None None None None
View gen1 13 rs2238162
dbSNP Clinvar
32959199 213.0 C T PASS 0/1 38 None None None 0.51158 0.51160 None None None None None None None
View gen1 13 rs9534344
dbSNP Clinvar
32956283 129.0 G A PASS 0/1 31 None None None 0.19689 0.19690 None None None None None None None
View gen1 13 rs10870659
dbSNP Clinvar
32956109 168.0 G A PASS 0/1 32 None None None 0.20887 0.20890 None None None None None None None
View gen1 13 rs9534342
dbSNP Clinvar
32955397 242.0 C T PASS 0/1 44 None None None 0.51098 0.51100 None None None None None None None
View gen1 13 rs206145
dbSNP Clinvar
32954741 382.0 T A PASS 1/1 25 None None None 0.97664 0.97660 None None None None None None None
View gen1 13 rs7328654
dbSNP Clinvar
32954561 194.0 G A PASS 0/1 39 None None None 0.52356 0.52360 None None None None None None None
View gen1 13 rs4942486
dbSNP Clinvar
32953388 181.0 T C PASS 0/1 49 None None None 0.51158 0.51160 None None None None None None None
View gen1 13 rs9526148
dbSNP Clinvar
32951596 216.0 A C PASS 0/1 31 None None None 0.20627 0.20630 None None None None None None None
View gen1 13 rs9534323
dbSNP Clinvar
32950257 168.0 A G PASS 0/1 34 None None None 0.50959 0.50960 None None None None None None None
View gen1 13 rs398022219
dbSNP Clinvar
32949700 332.0 C CT PASS 0/1 0 None None None 0.49082 0.49080 None None None None None None None
View gen1 13 rs9534318
dbSNP Clinvar
32949382 308.0 T C PASS 0/1 48 None None None 0.52756 0.52760 None None None None None None None
View gen1 13 rs206068
dbSNP Clinvar
32946415 508.0 C T PASS 1/1 35 None None None 0.97604 0.97600 None None None None None None None
View gen1 13 rs206067
dbSNP Clinvar
32946011 513.0 A G PASS 1/1 35 None None None 0.97604 0.97600 None None None None None None None
View gen1 13 rs573014
dbSNP Clinvar
32945932 170.0 C T PASS 0/1 28 None None None 0.20887 0.20890 None None None None None None None
View gen1 13 rs10492395
dbSNP Clinvar
32945537 208.0 A T PASS 0/1 36 None None None 0.17013 0.17010 None None None None None None None
View gen1 13 rs11571742
dbSNP Clinvar
32944098 222.0 G A PASS 0/1 47 None None None 0.17991 0.17990 None None None None None None None
View gen1 13 rs111422380
dbSNP Clinvar
32942935 620.0 GT G PASS 0/1 0 None None None None None None None None None None
View gen1 13 rs61340698
dbSNP Clinvar
32941716 329.0 A AG... PASS 0/1 0 None None None 0.51777 0.51780 None None None None None None None
View gen1 13 rs35628833,rs886039283
dbSNP Clinvar
32941005 642.0 CA C PASS 0/1 0 None None None 0.46945 0.46940 None None None None None None None
View gen1 13 rs11571734
dbSNP Clinvar
32940888 207.0 C T PASS 0/1 37 None None None 0.20887 0.20890 None None None None None None None
View gen1 13 rs11571732
dbSNP Clinvar
32940576 274.0 C G PASS 0/1 40 None None None 0.00300 0.00300 None None None None None None None
View gen1 13 rs9534275
dbSNP Clinvar
32940345 172.0 C A PASS 0/1 38 None None None 0.51797 0.51800 None None None None None None None
View gen1 13 rs9534270
dbSNP Clinvar
32939314 99.0 C T PASS 0/1 18 None None None 0.51777 0.51780 None None None None None None None
View gen1 13 rs9534269
dbSNP Clinvar
32939286 91.0 T G PASS 0/1 18 None None None 0.20727 0.20730 None None None None None None None
View gen1 13 rs3092990
dbSNP Clinvar
32938755 914.0 C CT PASS 0/1 0 None None None 0.21046 0.21050 None None None None None None None
View gen1 13 rs9534262
dbSNP Clinvar
32936646 197.0 T C PASS 0/1 42 None None None 0.53155 0.53150 0.47985 None None None None None None None
View gen1 13 rs9534259
dbSNP Clinvar
32935406 273.0 T C PASS 0/1 47 None None None 0.13678 0.13680 None None None None None None None
View gen1 13 rs206098
dbSNP Clinvar
32933937 592.0 A G PASS 1/1 41 None None None 0.97624 0.97620 None None None None None None None
View gen1 13 rs206097
dbSNP Clinvar
32933022 158.0 G T PASS 0/1 31 None None None 0.44090 0.44090 None None None None None None None
View gen1 13 rs34469166,rs886039295
dbSNP Clinvar
32932613 326.0 C CA PASS 0/1 0 None None None 0.22065 0.22060 None None None None None None None
View gen1 13 rs206096
dbSNP Clinvar
32930936 505.0 G A PASS 1/1 35 None None None 0.99860 0.99860 None None None None None None None
View gen1 13 rs1460816
dbSNP Clinvar
32928408 187.0 G A PASS 0/1 39 None None None 0.53474 0.53470 None None None None None None None
View gen1 13 rs1460817
dbSNP Clinvar
32928404 156.0 T C PASS 0/1 35 None None None 0.20827 0.20830 None None None None None None None
View gen1 13 rs206069
dbSNP Clinvar
32928317 522.0 T C PASS 1/1 37 None None None 0.97584 0.97580 None None None None None None None
View gen1 13 rs9943888
dbSNP Clinvar
32928202 190.0 A G PASS 0/1 36 None None None 0.20927 0.20930 None None None None None None None
View gen1 13 rs9943890
dbSNP Clinvar
32928112 155.0 G A PASS 0/1 27 None None None 0.20847 0.20850 None None None None None None None
View gen1 13 rs9943876
dbSNP Clinvar
32927894 190.0 C T PASS 0/1 30 None None None 0.28395 0.28390 None None None None None None None
View gen1 13 rs11571700
dbSNP Clinvar
32927017 181.0 G A PASS 0/1 35 None None None 0.03714 0.03714 None None None None None None None
View gen1 13 rs559067
dbSNP Clinvar
32924884 330.0 C T PASS 1/1 22 None None None 0.24820 0.24820 None None None None None None None
View gen1 13 rs206080
dbSNP Clinvar
32920844 783.0 T C PASS 1/1 57 None None None 0.97404 0.97400 None None None None None None None
View gen1 13 rs206079
dbSNP Clinvar
32920618 709.0 G A PASS 1/1 51 None None None 0.42332 0.42330 None None None None None None None
View gen1 13 rs206078
dbSNP Clinvar
32920016 549.0 G A PASS 1/1 38 None None None 0.97404 0.97400 None None None None None None None
View gen1 13 rs206074
dbSNP Clinvar
32908106 584.0 A G PASS 1/1 41 None None None 0.97404 0.97400 None None None None None None None
View gen1 13 rs206073
dbSNP Clinvar
32905265 323.0 G A PASS 1/1 21 None None None 0.97404 0.97400 None None None None None None None
View gen1 13 rs556394075,rs113733140,rs886039284
dbSNP Clinvar
32901905 1014.0 A AT PASS 1/1 0 None None None 0.38399 0.38400 None None None None None None None
View gen1 13 rs206071
dbSNP Clinvar
32899878 575.0 C T PASS 1/1 41 None None None 0.97384 0.97380 None None None None None None None
View gen1 13 rs206123
dbSNP Clinvar
32895377 483.0 G C PASS 1/1 33 None None None 0.97424 0.97420 None None None None None None None
View gen1 13 rs117573552
dbSNP Clinvar
32893724 257.0 G A PASS 0/1 40 None None None 0.00719 0.00719 None None None None None None None
View gen1 13 rs206121
dbSNP Clinvar
32892217 522.0 C T PASS 1/1 36 None None None 0.97424 0.97420 None None None None None None None
View gen1 13 rs11571577
dbSNP Clinvar
32891451 1783.0 CAAGT C PASS 1/1 0 None None None 0.25839 0.25840 None None None None None None None
View gen1 13 rs206119
dbSNP Clinvar
32889968 166.0 G A PASS 0/1 26 None None None 0.74121 0.74120 None None None None None None None
View gen1 13 rs1148321
dbSNP Clinvar
32974288 179.0 T A PASS 0/1 34 None None None None None None None None None None
View gen1 13 rs206118
dbSNP Clinvar
32889792 167.0 A G PASS 0/1 30 None None None 0.14856 0.14860 None None None None None None None
View gen1 13 rs1148320
dbSNP Clinvar
32974022 477.0 C A PASS 1/1 32 None None None 1.00000 1.00000 None None None None None None None
View gen1 13 rs35930474,rs71071037
dbSNP Clinvar
32973923 427.0 C CT PASS 0/1 0 None None None None None None None None None None
View gen1 13 rs7334543
dbSNP Clinvar
32973276 150.0 A G PASS 0/1 46 None None None 0.22205 0.22200 None None None None None None None
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