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INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

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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 at Omim

BRCA1, BRIP1, NF1, RHBDF2, TP53,
BRCA1 {Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
BRIP1 Fanconi anemia, complementation group J, 609054 (3)
Breast cancer, early-onset, 114480 (3)
NF1 Watson syndrome, 193520 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Leukemia, juvenile myelomonocytic, 607785 (3)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
{Basal cell carcinoma 7}, 614740 (3)
Pancreatic cancer, 260350 (3)
Osteosarcoma, 259500 (3)
Nasopharyngeal carcinoma, 607107 (3)
Li-Fraumeni syndrome, 151623 (3)
Hepatocellular carcinoma, 114550 (3)
Colorectal cancer, 114500 (3)
Choroid plexus papilloma, 260500 (3)
Breast cancer, 114480 (3)
Adrenal cortical carcinoma, 202300 (3)

Genes at Clinical Genomics Database

BRCA1, BRIP1, NF1, RHBDF2, TP53,
BRCA1 Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
BRIP1 Fanconi anemia, complementation group J
Breast cancer
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
RHBDF2 Tylosis with esophageal cancer
TP53 Colorectal cancer
Adrenocortical carcinoma
Non-Hodgkin lymphoma
Hepatoblastoma
Breast cancer, familial
Osteogenic sarcoma
Ependymoma, intracranial
Choroid plexus papilloma
Li-Fraumeni syndrome

Genes at HGMD

Summary

Number of Variants: 20
Number of Genes: 5

Export to: CSV

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 pc751_s1 17 rs1060915
dbSNP
41234470 1141.83 A G PASS 0/1 114 SYNONYMOUS_CODING LOW SILENT 0.33626 0.33630 0.27956 None None None None None None None
View pc751_s1 17 rs1799966
dbSNP
41223094 1670.14 T C PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35583 0.35580 0.29817 0.12 0.01 None None None None None None None
View pc751_s1 17 rs1799949
dbSNP
41245466 2144.47 G A PASS 0/1 165 SYNONYMOUS_CODING LOW SILENT 0.33646 0.33650 0.29568 None None None None None None None
View pc751_s1 17 rs16940
dbSNP
41245237 904.32 A G PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.33526 0.33530 0.27764 None None None None None None None
View pc751_s1 17 rs799917
dbSNP
41244936 1676.45 G A PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54393 0.54390 0.49316 1.00 0.00 None None None None None None None
View pc751_s1 17 rs16941
dbSNP
41244435 1422.44 T C PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33566 0.33570 0.27903 0.17 0.45 None None None None None None None
View pc751_s1 17 rs16942
dbSNP
41244000 1525.51 T C PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35264 0.35260 0.29525 1.00 0.01 None None None None None None None

BRIP1

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 pc751_s1 17 rs4986765
dbSNP
59763465 938.61 T C PASS 0/1 112 SYNONYMOUS_CODING LOW SILENT 0.81510 0.81510 0.26572 None None None None None None None
View pc751_s1 17 rs4986764
dbSNP
59763347 1895.44 A G PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62780 0.62780 0.38659 0.94 0.00 None None None None None None None
View pc751_s1 17 rs4986763
dbSNP
59760996 2175.89 A G PASS 0/1 205 SYNONYMOUS_CODING LOW SILENT 0.62081 0.62080 0.39396 None None None None None None None

NF1

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 pc751_s1 17 rs1801052
dbSNP
29508775 2420.2 G A PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.51178 0.51180 0.42560 None None None None None None None
View pc751_s1 17 rs371581213
dbSNP
29667627 851.74 G A PASS 0/1 97 SYNONYMOUS_CODING LOW SILENT 0.00015 None None None None None None None

RHBDF2

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 pc751_s1 17 rs3809694
dbSNP
74475975 1700.19 C A PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45627 0.45630 0.40409 0.67 0.00 None None None None None None None
View pc751_s1 17 rs3744045
dbSNP
74475024 417.88 G A PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76518 0.76520 0.20475 0.02 0.27 None None None None None None None

TP53

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 pc751_s1 17 rs1042522
dbSNP
7579472 416.64 G C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54293 0.54290 0.36996 0.57 0.14 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 pc751_s1 17 rs7501939
dbSNP
36101156 2191.42 T C PASS 1/1 87 None None None 0.63419 0.63420 None None None None None None None
View pc751_s1 17 rs4430796
dbSNP
36098040 728.3 G A PASS 1/1 26 None None None 0.55391 0.55390 None None None None None None None
View pc751_s1 17 rs4793172
dbSNP
43131480 1962.8 A T PASS 0/1 158 None None None 0.62400 0.62400 0.32804 None None None None None None None
View pc751_s1 17 rs1859962
dbSNP
69108753 3659.2 G T PASS 1/1 129 None None None 0.57508 0.57510 None None None None None None None
View pc751_s1 17 rs4795519
dbSNP
25541278 1116.13 A C PASS 0/1 106 None None None 0.47085 0.47080 None None None None None None None