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

CACNA1B, FCGR3B, HERC1, IFT52, MCPH1, MIB1, MTHFS, RNPC3, SIK1, SLC25A24, SLC3A1, SPTLC2, UGT2B17,
CACNA1B ?Dystonia 23, 614860 (3)
FCGR3B Neutropenia, alloimmune neonatal (3)
HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
MCPH1 Microcephaly 1, primary, autosomal recessive, 251200 (3)
MIB1 Left ventricular noncompaction 7, 615092 (3)
MTHFS Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 (3)
RNPC3 ?Growth hormone deficiency, isolated, type V, 618160 (3)
SIK1 Epileptic encephalopathy, early infantile, 30, 616341 (3)
SLC25A24 Fontaine progeroid syndrome, 612289 (3)
SLC3A1 Cystinuria, 220100 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)

Genes at Clinical Genomics Database

CACNA1B, MCPH1, MIB1, SIK1, SLC3A1,
CACNA1B Dystonia 23
MCPH1 Microcephaly, primary autosomal recessive, 1
MIB1 Left ventricular noncompaction 7
SIK1 Epileptic encephalopathy, early infantile 30
SLC3A1 Cystinuria

Genes at HGMD

Summary

Number of Variants: 597
Number of Genes: 80

Export to: CSV

AC026369.1

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 60820188472777 cnv 12 . 83248 64.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

AMY2B

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 60820188472777 cnv 1 . 104103635 37.0 N <DUP> PASS ./1 0 GENE_FUSION HIGH None None None None None None AMY2B|0.053788804|61.54%

BTNL8

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 60820188472777 cnv 5 . 180375195 39.0 N <DEL> PASS 0/1 0 GENE_DELETED HIGH None None None None None None BTNL8|0.000363507|99.19%

CACNA1B

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 60820188472777 cnv 9 . 140776781 47.0 N <DUP> cnvLength ./1 0 MOTIF[MA0138.1:Nrsf] MODIFIER None None None None None None CACNA1B|0.168604934|40.5%

CNOT10

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 60820188472777 cnv 3 . 32804736 23.0 N <DEL> cnvLength 0/1 0 EXON_DELETED HIGH None None None None None None CNOT10|0.270832503|29.82%

CYP4F12

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 60820188472777 cnv 19 . 15783820 26.0 N <DEL> cnvLength 0/1 0 EXON_DELETED HIGH None None None None None None CYP4F12|0.002728851|89.2%

DNAJC24

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 60820188472777 cnv 11 . 31392824 16.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None DNAJC24|0.279841851|29.1%

FAM149A

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 60820188472777 cnv 4 . 187091737 18.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None FAM149A|0.005566361|85.14%

FAM231A

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 60820188472777 cnv 1 . 16885786 150.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

FAM90A26

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 60820188472777 cnv 4 . 9162378 79.0 N <DEL> PASS 1/1 0 GENE_DELETED HIGH None None None None None None None

FCGR3B

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 60820188472777 cnv 1 . 161572937 36.0 N <DEL> PASS 0/1 0 GENE_DELETED HIGH None None None None None None FCGR3A|0.001574377|92.43%,FCGR2B|0.005666385|85.02%,FCGR2C|0.001262673|94.08%

FFAR3

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 60820188472777 cnv 19 . 35850830 26.0 N <DEL> PASS 0/1 0 None None None None None None None None None FFAR3|0.007391338|83.15%

FXYD5

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 60820188472777 cnv 19 . 35660286 22.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None FXYD5|0.010745151|80.32%

GOLGA6L6

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 60820188472777 cnv 15 . 20590037 142.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

GPRIN2

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 60820188472777 cnv 10 . 46964980 89.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None SYT15|0.013118244|78.44%

GSTM1

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 60820188472777 cnv 1 . 110229819 62.0 N <DEL> PASS 1/1 0 GENE_FUSION HIGH None None None None None None GSTM2|0.013764384|78.03%

GSTT2

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 60820188472777 cnv 22 . 24273422 45.0 N <DEL> PASS 0/1 0 GENE_DELETED HIGH None None None None None None None

HERC1

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 60820188472777 cnv 15 . 63976894 56.0 N <DUP> cnvLength ./1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None HERC1|0.415865937|19.82%

IFT52

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 60820188472777 cnv 20 . 42271064 24.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None IFT52|0.386520609|21.64%

IGHG4

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 60820188472777 cnv 14 . 106071093 23.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

IGHV3-23

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 60820188472777 cnv 14 . 106716593 24.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

IGHV3-9

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 60820188472777 cnv 14 . 106535098 34.0 N <DEL> PASS 0/1 0 GENE_DELETED HIGH None None None None None None None

IGKV2D-26

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 60820188472777 cnv 2 . 90010998 47.0 N <DEL> cnvBinSupportRatio 0/1 0 GENE_DELETED HIGH None None None None None None None

INO80C

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 60820188472777 cnv 18 . 33054993 9.0 N <DUP> cnvLength ./1 0 FRAME_SHIFT HIGH None None None None None None INO80C|0.125319067|46.59%

KCNH4

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 60820188472777 cnv 17 . 40311323 108.0 N <DUP> cnvLength ./1 0 FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION HIGH None None None None None None KCNH4|0.122547699|47.02%

KCNJ12

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 60820188472777 cnv 17 . 21302464 108.0 N <DUP> PASS ./1 0 MOTIF[MA0003.1:Ap2alpha] MODIFIER None None None None None None KCNJ12|0.437556296|18.82%

KIR3DL2

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 60820188472777 cnv 19 . 55340869 34.0 N <DEL> PASS 0/1 0 GENE_FUSION HIGH None None None None None None KIR3DL1|0.000640018|97.61%

KRTAP9-7

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 60820188472777 cnv 17 . 39421074 21.0 N <DEL> PASS 0/1 0 GENE_DELETED HIGH None None None None None None None

LCE3B

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 60820188472777 cnv 1 . 152554324 34.0 N <DEL> PASS 0/1 0 GENE_DELETED HIGH None None None None None None None

LILRA3

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 60820188472777 cnv 19 . 54799882 17.0 N <DEL> PASS 0/1 0 EXON_DELETED HIGH None None None None None None LILRA3|0.000583738|98.02%

LINC00955

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 60820188472777 cnv 4 . 3569580 21.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

LSR

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 60820188472777 cnv 19 . 35758421 19.0 N <DEL> cnvLength 0/1 0 GENE_FUSION HIGH None None None None None None LSR|0.042036693|65.11%

MCPH1

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 60820188472777 cnv 8 . 6293518 111.0 N <DUP> cnvLength ./1 0 None None None None None None None None None MCPH1|0.001260573|94.1%

MGAM

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 60820188472777 cnv 7 . 141764824 73.0 N <DEL> PASS 1/1 0 EXON_DELETED HIGH None None None None None None MGAM|0.010840797|80.22%

MIA2

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 60820188472777 cnv 14 . 39705667 48.0 N <DUP> cnvLength ./1 0 None None None None None None None None None MIA2|0.025404188|71.62%

MIB1

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 60820188472777 cnv 18 . 19438177 108.0 N <DUP> cnvLength ./1 0 None None None None None None None None None MIB1|0.648560221|10.17%

MTHFS

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 60820188472777 cnv 15 . 80136631 108.0 N <DUP> cnvLength ./1 0 GENE_FUSION HIGH None None None None None None MTHFS|0.041284027|65.37%

MUC12

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 60820188472777 cnv 7 . 100552641 14.0 N <DUP> PASS ./1 0 GENE_FUSION HIGH None None None None None None MUC3A|0.001683398|91.94%

MUC20

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 60820188472777 cnv 3 . 195418798 88.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

MUC4

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 60820188472777 cnv 3 . 195457365 32.0 N <DUP> PASS ./1 0 GENE_FUSION_REVERESE HIGH None None None None None None MUC20|0.001041752|95.22%

NTRK3

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 60820188472777 cnv 15 . 88428045 108.0 N <DUP> cnvLength ./1 0 None None None None None None None None None NTRK3|0.77615869|6.42%

OPRL1

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 60820188472777 cnv 20 . 62721881 21.0 N <DEL> cnvLength 0/1 0 EXON_DELETED HIGH None None None None None None OPRL1|0.253276549|31.26%

OR11H12

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 60820188472777 cnv 14 . 19001868 95.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

OR4N4

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 60820188472777 cnv 15 . 22297931 54.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

OR4P4

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 60820188472777 cnv 11 . 55366176 43.0 N <DEL> PASS 0/1 0 GENE_DELETED HIGH None None None None None None None

OR4X2

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 60820188472777 cnv 11 . 48267383 15.0 N <DUP> cnvLength ./1 0 EXON_DUPLICATION_PARTIAL+SPLICE_SITE_REGION LOW None None None None None None OR4X2|0.0362389|67.03%

PCDH11X

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 60820188472777 cnv X . 91592775 63.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None PCDH11X|0.213449585|35.17%

PDE4DIP

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 60820188472777 cnv 1 . 144907056 138.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None PDE4DIP|0.07469644|56.36%

PDPR

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 60820188472777 cnv 16 . 70183691 55.0 N <DUP> PASS ./1 0 MOTIF[MA0148.1:FOXA1] MODIFIER None None None None None None PDPR|0.230085015|33.36%

PDXDC1

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 60820188472777 cnv 16 . 15049713 57.0 N <DUP> PASS ./1 0 FRAME_SHIFT HIGH None None None None None None None

PNCK

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 60820188472777 cnv X . 152934886 108.0 N <DUP> cnvLength ./1 0 SPLICE_SITE_REGION LOW None None None None None None None

PPIAL4G

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 60820188472777 cnv 1 . 142536083 116.0 N <DUP> cnvBinSupportRatio ./1 0 STOP_GAINED+EXON_DUPLICATION HIGH None None None None None None None

PPP4R4

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 60820188472777 cnv 14 . 94732767 108.0 N <DUP> cnvLength ./1 0 None None None None None None None None None PPP4R4|0.124047888|46.8%

PRIM2

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 60820188472777 cnv 6 . 57240623 72.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None PRIM2|0.188824743|37.96%
View 60820188472777 cnv 6 . 57395160 45.0 N <DUP> PASS ./1 0 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None PRIM2|0.188824743|37.96%

PSG4

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 60820188472777 cnv 19 . 43704312 33.0 N <DEL> PASS 0/1 0 GENE_FUSION HIGH None None None None None None PSG4|0.000588489|97.99%

RASEF

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 60820188472777 cnv 9 . 85624559 108.0 N <DUP> cnvLength ./1 0 EXON_DUPLICATION_PARTIAL HIGH None None None None None None RASEF|0.039321415|66%

RNPC3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 1 . 104084979 32.0 N <DUP> cnvLength ./1 0 None None None None None None None None None RNPC3|0.31175828|26.73%

RP4-576H24.4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 20 . 1560265 75.0 N <DEL> PASS 1/1 0 EXON_DELETED+SPLICE_SITE_REGION HIGH None None None None None None SIRPB1|0.000916785|95.94%

RRP7A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 22 . 42906635 34.0 N <DUP> PASS ./1 0 GENE_FUSION_REVERESE HIGH None None None None None None RRP7A|0.013410864|78.23%

RTDR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 22 . 23478154 20.0 N <DEL> cnvLength 1/1 0 None None None None None None None None None RSPH14|0.01273033|78.69%

SCGB1C1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 11 . 189643 59.0 N <DUP> cnvLength ./1 0 GENE_FUSION_REVERESE HIGH None None None None None None BET1L|0.043373074|64.7%

SIGLEC14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 19 . 52134415 29.0 N <DEL> PASS 0/1 0 GENE_FUSION HIGH None None None None None None SIGLEC5|0.000613659|97.84%

SIK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 21 . 44822209 57.0 N <DUP> PASS ./1 0 FRAME_SHIFT HIGH None None None None None None None

SLC25A24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 1 . 108733352 51.0 N <DEL> cnvLength 1/1 0 MOTIF_DELETED LOW None None None None None None SLC25A24|0.097263578|51.67%

SLC3A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 2 . 44538905 92.0 N <DUP> cnvLength ./1 0 None None None None None None None None None SLC3A1|0.054706734|61.26%

SPATA31A6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 9 . 41971398 63.0 N <DEL> cnvBinSupportRatio 0/1 0 CHROMOSOME_LARGE_DELETION HIGH None None None None None None None

SPTLC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 14 . 78061896 26.0 N <DEL> PASS 0/1 0 MOTIF_DELETED LOW None None None None None None SPTLC2|0.208864076|35.71%

SULT1A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 16 . 28614500 26.0 N <DUP> cnvLength ./1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None

SULT1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 4 . 70597701 20.0 N <DUP> cnvLength ./1 0 EXON_DUPLICATION HIGH None None None None None None SULT1B1|0.010008636|80.83%

SYAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv X . 16775211 25.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None SYAP1|0.075170402|56.26%

TAF4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 20 . 60639238 20.0 N <DEL> cnvLength 0/1 0 MOTIF_DELETED LOW None None None None None None TAF4|0.088611939|53.52%

TAS2R43

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 12 . 11221527 29.0 N <DEL> PASS 0/1 0 GENE_DELETED HIGH None None None None None None PRR4|0.000493683|98.46%,TAS2R14|0.00022192|99.72%

TFB2M

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 1 . 246725916 31.0 N <DEL> PASS 0/1 0 GENE_FUSION_REVERESE HIGH None None None None None None TFB2M|0.00516186|85.63%

TPTE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 21 . 9828127 122.0 N <DUP> cnvBinSupportRatio ./1 0 GENE_DUPLICATION MODERATE None None None None None None None

TRGV4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 7 . 38390028 56.0 N <DEL> cnvLength 1/1 0 TRANSCRIPT_DELETED HIGH None None None None None None None

UGT2B17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 4 . 69373340 46.0 N <DEL> PASS 0/1 0 GENE_DELETED HIGH None None None None None None None

USP7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 16 . 9056551 15.0 N <DEL> cnvLength 0/1 0 EXON_DELETED+SPLICE_SITE_REGION HIGH None None None None None None USP7|0.774291764|6.46%

WDR25

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 14 . 100905875 29.0 N <DEL> PASS 0/1 0 MOTIF_DELETED LOW None None None None None None WDR25|0.008279305|82.36%

ZDHHC11B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 5 . 684496 46.0 N <DUP> PASS ./1 0 GENE_FUSION HIGH None None None None None None TPPP|0.091883167|52.84%

ZNF595

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 60820188472777 cnv 4 . 28440 150.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE 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 60820188472777 cnv 17 . 15788588 9.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 17 . 193338 14.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None RPH3AL|0.167504186|40.6%
View 60820188472777 cnv 16 . 82886453 108.0 N <DUP> cnvLength ./1 0 None None None None None None None None None CDH13|0.953699546|2.14%
View 60820188472777 cnv 16 . 78371505 21.0 N <DEL> PASS 0/1 0 None None None None None None None None None WWOX|0.999159326|0.38%
View 60820188472777 cnv 16 . 76538968 14.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None CNTNAP4|0.147801581|43.33%
View 60820188472777 cnv 16 . 74397751 78.0 N <DUP> cnvLength ./1 0 GENE_DUPLICATION MODERATE None None None None None None None
View 60820188472777 cnv 16 . 65355627 20.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None None
View 60820188472777 cnv 16 . 64003138 63.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 16 . 57366181 22.0 N <DEL> cnvLength 1/1 0 None None None None None None None None None None
View 60820188472777 cnv 16 . 48509349 41.0 N <DEL> cnvLength 1/1 0 None None None None None None None None None None
View 60820188472777 cnv 16 . 34466292 58.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None None
View 60820188472777 cnv 16 . 33897858 36.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 16 . 33864313 92.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 16 . 32524597 43.0 N <DUP> cnvLength ./1 0 None None None None None None None None None None
View 60820188472777 cnv 16 . 28137962 108.0 N <DUP> cnvLength ./1 0 None None None None None None None None None XPO6|0.53095619|14.55%
View 60820188472777 cnv 16 . 23933457 25.0 N <DEL> cnvLength 0/1 0 None None None None None None None None None PRKCB|0.726314256|7.8%
View 60820188472777 cnv 16 . 22625932 80.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None None
View 60820188472777 cnv 16 . 21534490 75.0 N <DUP> PASS ./1 0 GENE_DUPLICATION MODERATE None None None None None None None
View 60820188472777 cnv 16 . 10084233 111.0 N <DUP> cnvLength ./1 0 None None None None None None None None None GRIN2A|0.560581536|13.34%