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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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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

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CADD

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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

ABCA4, AEBP1, DNAH11, DNMT1, HTT, IRF7, ITGB4, LAMA1, LRP4, MGME1, PEX6, PKD1L1, PML, XG,
ABCA4 {Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Fundus flavimaculatus, 248200 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
AEBP1 Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
ITGB4 Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LRP4 Cenani-Lenz syndactyly syndrome, 212780 (3)
Sclerosteosis 2, 614305 (3)
?Myasthenic syndrome, congenital, 17, 616304 (3)
MGME1 Mitochondrial DNA depletion syndrome 11, 615084 (3)
PEX6 Heimler syndrome 2, 616617 (3)
Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)
Peroxisome biogenesis disorder 4B, 614863 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PML Leukemia, acute promyelocytic, PML/RARA type (3)
XG [Blood group, XG system] (3)

Genes at Clinical Genomics Database

ABCA4, DNAH11, DNMT1, HTT, IRF7, ITGB4, LAMA1, LRP4, MGME1, PEX6, XG,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
DNAH11 Ciliary dyskinesia, primary, 7
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
HTT Huntington disease
IRF7 Immunodeficiency 39
ITGB4 Epidermolysis bullosa, junctional, with pyloric atresia
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa simplex, Weber-Cockayne type
LAMA1 Poretti-Boltshauser syndrome
LRP4 Cenani-Lenz syndactyly syndrome
Myasthenic syndrome, congenital 17
Sclerosteosis 2
MGME1 Mitochondrial DNA depletion syndrome 11
PEX6 Heimler syndrome 2
XG XG blood group

Genes at HGMD

Summary

Number of Variants: 47
Number of Genes: 45

Export to: CSV
  • Page 1 of 1

ABCA4

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 wes_0012 hg38 1 . 94517254 82.77 A G PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.01 0.38 None None None None None None ABCA4|0.440503373|18.63%

AEBP1

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 wes_0012 hg38 7 . 44149722 445.77 A G PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.01 0.74 None None None None None None AEBP1|0.046717327|63.68%

AP001631.10

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 wes_0012 hg38 21 . 44579876 10384.77 G C PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 1.00 0.00 None None None None None None None

ATP8B3

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 wes_0012 hg38 19 . 1784945 1988.77 A G PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.11 0.01 None None None None None None ATP8B3|0.003576519|87.64%

BACE1

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 wes_0012 hg38 11 . 117163903 4346.77 G T PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.05 0.32 None None None None None None BACE1|0.90818677|3.28%

BAI1

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 wes_0012 hg38 8 . 143562617 568.77 T A PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.29 0.87 None None None None None None ADGRB1|0.079978463|55.17%

CCDC113

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 wes_0012 hg38 16 . 58293838 839.77 C T PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None CCDC113|0.03387208|67.82%

CDCA2

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 wes_0012 hg38 8 . 25323840 4407.77 C T PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None CDCA2|0.009449627|81.34%

CNTNAP3

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 wes_0012 hg38 9 . 39287979 27.77 C T VeryLowQual 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.43 0.14 None None None None None None CNTNAP3|0.003914923|87.16%

COLEC12

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 wes_0012 hg38 18 rs2305027
dbSNP Clinvar
334742 621.77 C T PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.36761 0.36760 0.42588 0.06 1.00 None None None None None None COLEC12|0.362523137|23.25%

CYFIP1

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 wes_0012 hg38 15 . 22933876 1741.77 C T PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None CYFIP1|0.362096046|23.3%

DBN1

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 wes_0012 hg38 5 . 176887433 715.77 C T PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.02 0.92 None None None None None None DBN1|0.093052239|52.59%

DNAH11

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 wes_0012 hg38 7 . 21600787 4090.77 A G PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None DNAH11|0.38215847|21.9%

DNMT1

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 wes_0012 hg38 19 . 10291455 3211.77 T C PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.07 0.99 None None None None None None DNMT1|0.310637593|26.78%

EFCAB4A

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 wes_0012 hg38 11 rs28558789
dbSNP Clinvar
829539 823.77 A G PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.66554 0.66550 0.33928 1.00 0.00 None None None None None None CRACR2B|0.008716499|81.94%

FOCAD

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 wes_0012 hg38 9 . 20988427 1725.77 A G PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.09 0.04 None None None None None None FOCAD|0.402062048|20.62%

HTT

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 wes_0012 hg38 4 . 3240545 103.03 C A PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None HTT|0.732159891|7.59%

IRF7

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 wes_0012 hg38 11 rs1131665
dbSNP Clinvar
613208 480.77 T C PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.27556 0.27560 0.36142 1.00 0.00 None None None None None None IRF7|0.021937375|73.21%

ITGB4

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 wes_0012 hg38 17 . 73750657 58.74 A G LowCoverage 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.01 0.16 None None None None None None ITGB4|0.346553835|24.38%,GALK1|0.289083483|28.42%

KDM6B

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 wes_0012 hg38 17 . 7754711 2419.77 G T PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.02 1.00 None None None None None None KDM6B|0.170012096|40.32%

KIF21B

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 wes_0012 hg38 1 . 200969518 21.77 C T LowCoverage;VeryLowQual 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.41 0.09 None None None None None None KIF21B|0.185522644|38.29%

LAG3

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 wes_0012 hg38 12 . 6884712 567.77 A G PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.95 None None None None None None LAG3|0.013047951|78.47%

LAMA1

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 wes_0012 hg38 18 . 7023372 1877.77 A G PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None LAMA1|0.056830169|60.73%

LRP4

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 wes_0012 hg38 11 . 46890153 6286.77 C T PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.54 0.01 None None None None None None LRP4|0.507499481|15.5%

LYPLA2

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 wes_0012 hg38 1 . 24120626 97.28 C T LowCoverage 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None LYPLA2|0.265041563|30.28%

MGME1

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 wes_0012 hg38 20 . 17968809 98.03 C T LowCoverage 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None OVOL2|0.091587792|52.91%,MGME1|0.050093217|62.64%

MLXIP

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 wes_0012 hg38 12 . 122626238 1255.77 C A PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.01 0.05 None None None None None None MLXIP|0.050269631|62.59%

MUC2

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 wes_0012 hg38 11 . 1098817 284.77 C T PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None MUC2|0.013216618|78.34%
View wes_0012 hg38 11 rs11825977
dbSNP Clinvar
1075920 1332.77 G A PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.11542 0.11540 0.20980 0.19 0.04 None None None None None None MUC2|0.013216618|78.34%

PCID2

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 wes_0012 hg38 13 . 113834544 446.77 C T PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.99 None None None None None None PCID2|0.197759666|36.95%

PCNXL3

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 wes_0012 hg38 11 . 65396886 280.77 C T PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.91 None None None None None None PCNXL3|0.117545332|47.84%

PEX6

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 wes_0012 hg38 6 . 42936028 62.74 T G LowCoverage 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.23 0.11 None None None None None None PEX6|0.097337007|51.65%

PKD1L1

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 wes_0012 hg38 7 . 47873981 1934.52 TG CA . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None None None None None None HUS1|0.052679196|61.85%,PKD1L1|0.001445956|93.06%
View wes_0012 hg38 7 . 47873981 2798.77 T C PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None None None None None None HUS1|0.052679196|61.85%,PKD1L1|0.001445956|93.06%

PML

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 wes_0012 hg38 15 . 74335331 158.9 G A PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.06 0.83 None None None None None None PML|0.174736226|39.68%

PPAP2C

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 wes_0012 hg38 19 rs1138439
dbSNP Clinvar
282753 1275.77 G A PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.36462 0.36460 0.44387 0.31 0.03 None None None None None None PPAP2C|0.013849586|77.98%

PTGES2

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 wes_0012 hg38 9 . 130884642 473.77 C G PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None PTGES2|0.069133036|57.69%

RAPGEF3

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 wes_0012 hg38 12 . 48145699 1961.77 T G PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.82 None None None None None None RAPGEF3|0.151971054|42.68%

RASA2

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 wes_0012 hg38 3 . 141292788 3185.77 C T PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None RASA2|0.378109548|22.18%

RIC8A

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 wes_0012 hg38 11 rs34925440
dbSNP Clinvar
210660 1212.77 C G PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00599 0.00599 0.01161 0.30 1.00 None None None None None None RIC8A|0.023059268|72.67%

SLC27A1

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 wes_0012 hg38 19 . 17581515 677.77 T G PASS 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.51 0.03 None None None None None None SLC27A1|0.040715504|65.54%

TOP1MT

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 wes_0012 hg38 8 rs200729884
dbSNP Clinvar
144399893 387.77 C T PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00100 0.00100 0.23 0.04 None None None None None None TOP1MT|0.006768719|83.74%

UNC79

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 wes_0012 hg38 14 . 94046720 55.74 C T LowCoverage 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None UNC79|0.402555111|20.61%

WHAMM

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 wes_0012 hg38 15 . 83488075 32.77 A G LowCoverage;LowQual 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.30 0.01 None None None None None None WHAMM|0.009201872|81.51%

XG

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View wes_0012 hg38 X . 2726261 610.77 C T PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None XG|0.001578916|92.42%

XPO4

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 wes_0012 hg38 13 . 21375128 293.77 T C PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.91 None None None None None None XPO4|0.410046926|20.19%

ZZEF1

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 wes_0012 hg38 17 . 4005611 47.74 C G LowCoverage;LowQual 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.99 None None None None None None ZZEF1|0.170424205|40.25%
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