SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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OMIM:
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HGMD:
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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
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Genes at Omim

APC, CCDC8, HRAS,
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Hepatoblastoma, somatic, 114550 (3)
CCDC8 3-M syndrome 3, 614205 (3)
HRAS Bladder cancer, somatic, 109800 (3)
Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Spitz nevus or nevus spilus, somatic, 137550 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)

Genes at Clinical Genomics Database

APC, CCDC8, HRAS,
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
CCDC8 Three M syndrome 3
HRAS Costello syndrome
Congenital myopathy with excess of muscle spindles

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 5

Export to: CSV
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APC

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 5 rs41115
dbSNP Clinvar
112175770 835.6 G A PASS 0/1 113 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%

CCDC8

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 19 rs2279517
dbSNP Clinvar
46914547 988.6 C G PASS 0/1 94 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.08227 0.08227 0.04429 0.00 0.63 None None None None None None CCDC8|0.002358405|90.02%

CPSF6

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 12 rs2305641
dbSNP Clinvar
69646914 636.03 G A PASS 1/1 21 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.42871 0.42870 0.44162 None None None None None None CPSF6|0.653941863|9.94%

HRAS

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs12628
dbSNP Clinvar
534242 1246.6 A G PASS 0/1 108 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.29713 0.29710 0.35453 None None None None None None HRAS|0.999987107|0.08%

RNF31

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 14 rs2273913
dbSNP Clinvar
24617238 1189.6 C T PASS 0/1 109 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH 0.34345 0.34350 0.22452 None None None None None None RNF31|0.218061063|34.61%
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