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GROUPS:

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INDIVIDUALS:

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OMIM:
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HGMD:
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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
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

AIP, ATM, CDKN1C, CEP57, DDB2, MEN1, WT1,
AIP Pituitary adenoma, prolactin-secreting, 600634 (3)
Pituitary adenoma, growth hormone-secreting, 102200 (3)
Pituitary adenoma, ACTH-secreting, 219090 (3)
ATM {Breast cancer, susceptibility to}, 114480 (3)
T-cell prolymphocytic leukemia, somatic (3)
Lymphoma, mantle cell, somatic (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Ataxia-telangiectasia, 208900 (3)
CDKN1C IMAGE syndrome, 614732 (3)
Beckwith-Wiedemann syndrome, 130650 (3)
CEP57 Mosaic variegated aneuploidy syndrome 2, 614114 (3)
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
MEN1 Parathyroid adenoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Lipoma, somatic (3)
Carcinoid tumor of lung (3)
Angiofibroma, somatic (3)
Adrenal adenoma, somatic (3)
WT1 Wilms tumor, type 1, 194070 (3)
Nephrotic syndrome, type 4, 256370 (3)
Mesothelioma, somatic, 156240 (3)
Meacham syndrome, 608978 (3)
Frasier syndrome, 136680 (3)
Denys-Drash syndrome, 194080 (3)

Genes at Clinical Genomics Database

AIP, ATM, CDKN1C, CEP57, DDB2, MEN1, WT1,
AIP Pituitary adenoma, familial isolated
ATM Ataxia-Telangiectasia
Breast cancer, susceptibility to
CDKN1C Beckwith-Wiedemann syndrome
IMAGE syndrome
CEP57 Mosaic variegated aneuploidy syndrome 2
DDB2 Xeroderma pigmentosum, group E
MEN1 Hyperparathyroidism, familial primary
Multiple endocrine neoplasia type I
WT1 Frasier syndrome
Wilms tumor, type 1
Denys-Drash syndrome

Genes at HGMD

Summary

Number of Variants: 22
Number of Genes: 7

Export to: CSV

AIP

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 11 rs641081
dbSNP
67257823 3571.13 C A PASS 1/1 147 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84545 0.84540 0.16574 1.00 0.01 None None None None None None None
View pc751_s1 11 rs4930199
dbSNP
67258391 4284.3 A G PASS 1/1 159 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99940 0.99940 0.00023 1.00 0.00 None None None None None None None

ATM

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 11 rs659243
dbSNP
108183167 3788.98 A G PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None
View pc751_s1 11 rs4986761
dbSNP
108124761 2108.62 T C PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00439 0.00439 0.00854 0.32 0.00 None None None None None None None

CDKN1C

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 11 rs565544512
dbSNP
2906196 722.41 AC... A PASS 0/1 10 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.13119 0.13120 0.25000 None None None None None None None

CEP57

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 11 rs644799
dbSNP
95564259 1827.36 A G PASS 0/1 174 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20587 0.20590 0.29482 0.55 0.00 None None None None None None None

DDB2

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 11 rs326212
dbSNP
47238522 3194.64 T C PASS 1/1 129 SYNONYMOUS_CODING LOW SILENT 0.99421 0.99420 0.00469 None None None None None None None

MEN1

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 11 rs2959656
dbSNP
64572018 4800.15 T C PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83447 0.83450 0.09157 0.76 0.00 None None None None None None None
View pc751_s1 11 rs540012
dbSNP
64572557 2331.17 A G PASS 1/1 89 SYNONYMOUS_CODING LOW SILENT 0.97604 0.97600 0.02385 None None None None None None None

WT1

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 11 rs1799925
dbSNP
32456562 118.89 G A PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.30391 0.30390 None None None None None None None
View pc751_s1 11 rs16754
dbSNP
32417945 396.49 T C PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.33147 0.33150 0.13029 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 11 rs3817198
dbSNP
1909006 1388.44 T C PASS 0/1 137 None None None 0.21546 0.21550 None None None None None None None
View pc751_s1 11 rs3802842
dbSNP
111171709 3089.65 C A PASS 1/1 120 None None None 0.71346 0.71350 None None None None None None None
View pc751_s1 11 rs790356
dbSNP
83620787 946.45 A G PASS 0/1 81 None None None 0.58267 0.58270 None None None None None None None
View pc751_s1 11 rs3824999
dbSNP
74345550 822.44 T G PASS 0/1 88 None None None 0.32688 0.32690 None None None None None None None
View pc751_s1 11 rs614367
dbSNP
69328764 636.68 C T PASS 0/1 64 None None None None None None None None None None
View pc751_s1 11 rs10896449
dbSNP
68994667 1126.42 A G PASS 0/1 112 None None None 0.41174 0.41170 None None None None None None None
View pc751_s1 11 rs7931342
dbSNP
68994497 1279.52 T G PASS 0/1 129 None None None 0.51238 0.51240 None None None None None None None
View pc751_s1 11 rs1945213
dbSNP
56175671 866.27 C G PASS 0/1 77 None None None 0.00359 0.77180 None None None None None None None
View pc751_s1 11 rs110419
dbSNP
8252853 1244.21 A G PASS 1/1 59 None None None 0.42991 0.42990 None None None None None None None
View pc751_s1 11 rs7127900
dbSNP
2233574 429.3 A G PASS 0/1 67 None None None 0.73502 0.73500 None None None None None None None
View pc751_s1 11 rs498872
dbSNP
118477367 817.31 A G PASS 0/1 69 None None None 0.75439 0.75440 None None None None None None None