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

ACAD8, AGPAT2, AGRN, ASCL1, ATR, ATXN3, C1QTNF5, CDC42, CDH23, CTSA, GTPBP3, KRT1, LZTFL1, MESP2, MPLKIP, NEB, NEFH, NPR3, PCLO, SLC25A32, SMARCC2, TNFRSF1A, UMOD,
ACAD8 Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)
AGPAT2 Lipodystrophy, congenital generalized, type 1, 608594 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
ASCL1 Central hypoventilation syndrome, congenital, 209880 (3)
Haddad syndrome, 209880 (3)
ATR Seckel syndrome 1, 210600 (3)
?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
C1QTNF5 Retinal degeneration, late-onset, autosomal dominant, 605670 (3)
CDC42 Takenouchi-Kosaki syndrome, 616737 (3)
CDH23 {Pituitary adenoma 5, multiple types}, 617540 (3)
Deafness, autosomal recessive 12, 601386 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CTSA Galactosialidosis, 256540 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
KRT1 Epidermolytic hyperkeratosis, 113800 (3)
Ichthyosis histrix, Curth-Macklin type, 146590 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Keratosis palmoplantaris striata III, 607654 (3)
Palmoplantar keratoderma, epidermolytic, 144200 (3)
Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
LZTFL1 Bardet-Biedl syndrome 17, 615994 (3)
MESP2 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MPLKIP Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
NPR3 ?Hypertension, salt-resistant (1)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
SLC25A32 ?Exercise intolerance, riboflavin-responsive, 616839 (3)
SMARCC2 Coffin-Siris syndrome 8, 618362 (3)
TNFRSF1A {Multiple sclerosis, susceptibility to, 5}, 614810 (3)
Periodic fever, familial, 142680 (3)
UMOD Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)
Hyperuricemic nephropathy, familial juvenile 1, 162000 (3)
Medullary cystic kidney disease 2, 603860 (3)

Genes at Clinical Genomics Database

ACAD8, AGPAT2, AGRN, ASCL1, ATR, ATXN3, AUTS2, C1QTNF5, CDC42, CDH23, CTSA, GTPBP3, KRT1, LZTFL1, MESP2, MPLKIP, NEB, NEFH, SLC25A32, TNFRSF1A, UMOD,
ACAD8 Isobutyryl-CoA dehydrogenase deficiency
AGPAT2 Lipodystrophy, congenital generalized, type 1
AGRN Myasthenic syndrome, congenital 8
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
ATR Cutaneous telangiectasia and cancer syndrome, familial
Seckel syndrome 1
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
AUTS2 Mental retardation, autosomal dominant 26
C1QTNF5 Late-onset retinal degeneration
CDC42 Takenouchi-Kosaki syndrome
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CTSA Galactosialidosis
GTPBP3 Combined oxidative phosphorylation deficiency 23
KRT1 Keratosis palmoplantaris striata III
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis histrix, Curth-Macklin type
Palmoplantar keratoderma, epidermolytic
Palmoplantar keratoderma, nonepidermolytic
Epidermolytic hyperkeratosis
LZTFL1 Bardet-Biedl syndrome 17
MESP2 Spondylocostal dysostosis 2, autosomal recessive
MPLKIP Trichothiodystrophy 4, nonphotosensitive
NEB Nemaline myopathy 2
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
SLC25A32 Exercise intolerance, riboflavin-responsive
TNFRSF1A Periodic fever, familial (TNF receptor-associated periodic syndrome)
UMOD Familial juvenile hyperuricemic nephropathy
Glomerulocystic kidney disease with hyperuricemia and isosthenuria

Genes at HGMD

Summary

Number of Variants: 1316
Number of Genes: 130

Export to: CSV

ABCA6

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 ht12d final 17 . 67080494 1439.77 C T PASS 0/1 90 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ABCA6|0.006278632|84.32%

AC090616.2

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 ht12d final 17 . 30469470 288.79 CC... C PASS 1/1 7 CODON_DELETION MODERATE None None None None None None None None

ACAD8

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 ht12d final 11 . 134123509 638.77 C G PASS 0/1 53 SYNONYMOUS_CODING LOW None None None None None None None ACAD8|0.093005193|52.61%

ADAM29

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 ht12d final 4 . 175899001 3569.77 T TC... PASS 0/1 96 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ADAM29|0.000578944|98.03%

AGPAT2

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 ht12d final 9 . 139581758 1103.77 C CCAG PASS 0/1 66 CODON_INSERTION MODERATE None 0.04892 None None None None None None AGPAT2|0.018792809|74.8%

AGRN

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 ht12d final 1 . 983711 228.77 C T PASS 0/1 18 SYNONYMOUS_CODING LOW None None None None None None None AGRN|0.026450221|71.13%

AKAP2

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 ht12d final 9 . 112811015 371.77 TC... T PASS 0/1 17 None None None 0.05092 None None None None None None PALM2-AKAP2|0.163410266|41.09%,AKAP2|0.121220388|47.25%

ALS2CR11

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 ht12d final 2 . 202352366 83.77 A AT... MG_INDEL_Filter 0/1 113 FRAME_SHIFT HIGH None None None None None None None ALS2CR11|0.003713566|87.41%
View ht12d final 2 . 202352359 48.77 TG... T MG_INDEL_Filter 0/1 116 FRAME_SHIFT HIGH None None None None None None None ALS2CR11|0.003713566|87.41%

ASCL1

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 ht12d final 12 . 103352171 590.77 CG... C PASS 0/1 44 GENE_FUSION_REVERESE HIGH None None None None None None None PAH|0.397123463|20.97%,ASCL1|0.898371145|3.46%

ATR

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 ht12d final 3 . 142274750 89.77 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None None None None None None None ATR|0.696057424|8.61%
View ht12d final 3 . 142274754 74.77 A T PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ATR|0.696057424|8.61%
View ht12d final 3 . 142274752 208.77 G T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.09 1.00 None None None None None None ATR|0.696057424|8.61%
View ht12d final 3 . 142274751 144.77 A T PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ATR|0.696057424|8.61%
View ht12d final 3 . 142274755 93.77 G T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.99 None None None None None None ATR|0.696057424|8.61%

ATRNL1

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 ht12d final 10 . 116919801 38.77 G T MG_SNP_Filter 0/1 32 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 0.99 None None None None None None ATRNL1|0.785284373|6.21%

ATXN3

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 ht12d final 14 . 92537354 3964.77 C CT... PASS 1/1 86 FRAME_SHIFT HIGH None None None None None None None ATXN3|0.681306976|9.03%

AUTS2

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 ht12d final 7 . 70236541 1615.77 C T PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.71 None None None None None None AUTS2|0.998368801|0.51%

BARHL1

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 ht12d final 9 . 135458549 1296.77 C T PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.04 None None None None None None BARHL1|0.344501185|24.55%

BCL2L13

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 ht12d final 22 . 18210150 1181.77 G A PASS 0/1 99 SYNONYMOUS_CODING LOW None None None None None None None BCL2L13|0.039355581|65.99%

BTAF1

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 ht12d final 10 . 93771047 138.77 A G PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.24 None None None None None None BTAF1|0.83441814|5%

C19orf55

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 ht12d final 19 . 36250694 850.77 T C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.03 None None None None None None PROSER3|0.008590667|82.06%

C1QTNF5

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 ht12d final 11 . 119211070 357.77 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None C1QTNF5|0.125545582|46.55%,MFRP|0.053195246|61.74%

C8orf34

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 ht12d final 8 . 69358649 1423.77 C A PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.99 None None None None None None C8orf34|0.356828577|23.69%

CACHD1

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 ht12d final 1 . 65157055 766.77 C T PASS 0/1 49 SYNONYMOUS_CODING LOW None None None None None None None CACHD1|0.388783609|21.49%

CAPN12

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 ht12d final 19 . 39226829 254.77 C CC... PASS 0/1 13 CODON_INSERTION MODERATE None None None None None None None CAPN12|0.032054241|68.58%

CCDC168

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 ht12d final 13 . 103388753 2316.77 G C PASS 0/1 165 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.74 None None None None None None CCDC168|0.000980876|95.56%

CDC42

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 ht12d final 1 . 22408215 125.77 G T PASS 0/1 8 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 0.98 None None None None None None CDC42|0.998507543|0.49%

CDC45

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 ht12d final 22 . 19470217 169.77 A T MG_SNP_Filter 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.03 None None None None None None CDC45|0.703453878|8.4%

CDH23

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 ht12d final 10 . 73157033 645.77 C CC... PASS 1/1 15 None None None None None None None None None CDH23|0.499757104|15.83%

CNOT6L

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 ht12d final 4 . 78740203 346.77 G GAC PASS 0/1 11 None None None None None None None None None CNOT6L|0.809704188|5.58%

COL24A1

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 ht12d final 1 . 86581058 902.77 G T PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.90 None None None None None None COL24A1|0.328659161|25.57%

COL8A1

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 ht12d final 3 . 99509614 976.77 T C PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.86 None None None None None None COL8A1|0.526707826|14.7%

CSMD3

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 ht12d final 8 . 113304826 690.77 G A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.34 1.00 None None None None None None CSMD3|0.744731001|7.23%

CTSA

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 ht12d final 20 . 44520237 2076.77 CCTG C PASS 1/1 48 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00140 None None None None None None CTSA|0.152533286|42.59%

DCAF8L2

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 ht12d final X . 27765399 151.88 A AG... PASS 1/1 5 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None DCAF8L2|0.000974393|95.61%

DIMT1

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 ht12d final 5 . 61697877 94.77 C T MG_SNP_Filter 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.20 None None None None None None KIF2A|0.759230269|6.85%,DIMT1|0.600375394|11.76%
View ht12d final 5 . 61697870 103.77 G T PASS 0/1 50 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.96 None None None None None None KIF2A|0.759230269|6.85%,DIMT1|0.600375394|11.76%
View ht12d final 5 . 61697872 103.77 C T PASS 0/1 51 SYNONYMOUS_CODING LOW None None None None None None None KIF2A|0.759230269|6.85%,DIMT1|0.600375394|11.76%
View ht12d final 5 . 61697871 103.77 C T PASS 0/1 50 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02 0.47 None None None None None None KIF2A|0.759230269|6.85%,DIMT1|0.600375394|11.76%

DNHD1

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 ht12d final 11 . 6567895 3746.77 C CT... PASS 1/1 76 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99421 0.06595 None None None None None None DNHD1|0.019835865|74.26%

EDEM3

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 ht12d final 1 . 184695410 1036.77 G C PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.01 None None None None None None EDEM3|0.397629525|20.92%

EDRF1

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 ht12d final 10 . 127426865 95.77 G GT... PASS 0/1 39 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None EDRF1|0.176017724|39.52%
View ht12d final 10 . 127426859 95.77 TG... T PASS 0/1 39 None None None None None None None None None EDRF1|0.176017724|39.52%

ENAH

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 ht12d final 1 . 225702478 56.77 C A PASS 0/1 7 SYNONYMOUS_CODING LOW None None None None None None None ENAH|0.276011653|29.45%

FADS6

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 ht12d final 17 . 72889676 4405.77 G GG... PASS 1/1 36 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None FADS6|0.029483585|69.62%

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 ht12d final 4 . 187088394 1273.77 G T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.99 None None None None None None FAM149A|0.005566361|85.14%

FAM227A

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 ht12d final 22 . 39022305 970.77 G C PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.05 1.00 None None None None None None FAM227A|0.0020869|90.76%

FAT3

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 ht12d final 11 . 92088205 3650.77 T C PASS 1/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.01 None None None None None None FAT3|0.649753694|10.13%

FBN3

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 ht12d final 19 . 8196700 207.77 G A PASS 0/1 23 SYNONYMOUS_CODING LOW None None None None None None None FBN3|0.011258615|79.83%

FBXO43

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 ht12d final 8 . 101146400 412.77 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.12 None None None None None None FBXO43|0.032445993|68.41%

FEZ2

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 ht12d final 2 . 36810608 754.77 CT C PASS 0/1 51 FRAME_SHIFT HIGH None None None None None None None FEZ2|0.221458357|34.26%

FRAT1

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 ht12d final 10 . 99079274 290.77 G C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.16 0.82 None None None None None None FRAT1|0.016201415|76.33%

GABRA4

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 ht12d final 4 . 46967055 879.77 A G PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.01 None None None None None None GABRA4|0.302134042|27.48%

GABRG3

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 ht12d final 15 . 27772768 2623.77 C T PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.02 None None None None None None GABRG3|0.151178389|42.8%

GBF1

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 ht12d final 10 . 104129056 1261.77 G A PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None GBF1|0.634827022|10.62%

GFRA1

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 ht12d final 10 . 118030433 1448.77 G C PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.29 None None None None None None GFRA1|0.934619361|2.66%

GPR126

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 ht12d final 6 . 142736933 147.77 G T PASS 0/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01 1.00 None None None None None None ADGRG6|0.153134359|42.51%

GTPBP3

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 ht12d final 19 . 17449980 1152.77 G T PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.34 None None None None None None GTPBP3|0.023898471|72.25%

HAUS6

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 ht12d final 9 . 19058682 552.77 G T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.96 None None None None None None HAUS6|0.099395396|51.29%

HRCT1

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 ht12d final 9 . 35906583 139.77 T TC... PASS 0/1 14 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None HRCT1|0.00226937|90.25%

HTR4

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 ht12d final 5 . 147861115 41.77 C T MG_SNP_Filter 0/1 32 None None None 0.40 0.00 None None None None None None HTR4|0.527955031|14.65%

IFI44

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 ht12d final 1 . 79121060 317.77 C T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.00 None None None None None None IFI44|0.002368724|89.98%

INPP4B

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 ht12d final 4 . 143226854 42.77 T C PASS 0/1 12 None None None 0.01 0.00 None None None None None None INPP4B|0.434163387|18.99%

IWS1

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 ht12d final 2 . 128262369 69.77 G T MG_SNP_Filter 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.00 None None None None None None IWS1|0.059675539|59.95%
View ht12d final 2 . 128262362 66.77 G T MG_SNP_Filter 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.68 0.00 None None None None None None IWS1|0.059675539|59.95%

KAT5

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 ht12d final 11 . 65480883 1946.77 A G PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.75 0.00 None None None None None None KAT5|0.8592293|4.47%

KCNG4

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 ht12d final 16 . 84256414 4614.77 C T PASS 1/1 140 SYNONYMOUS_CODING LOW None None None None None None None KCNG4|0.04032191|65.65%

KIAA0100

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 ht12d final 17 . 26966342 167.77 C T PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.49 0.00 None None None None None None KIAA0100|0.537691252|14.31%
View ht12d final 17 . 26966347 161.77 C T PASS 0/1 69 SYNONYMOUS_CODING LOW None None None None None None None KIAA0100|0.537691252|14.31%
View ht12d final 17 . 26966346 158.77 G T PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.95 0.00 None None None None None None KIAA0100|0.537691252|14.31%
View ht12d final 17 . 26966341 167.77 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None None None None None None None KIAA0100|0.537691252|14.31%

KIAA0430

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 ht12d final 16 . 15696480 419.77 A AA... PASS 1/1 10 None None None 0.95887 None None None None None None C16orf45|0.240469657|32.39%,KIAA0430|0.197830655|36.94%

KLB

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 ht12d final 4 . 39409259 1116.77 G A PASS 0/1 81 SYNONYMOUS_CODING LOW None None None None None None None KLB|0.053916364|61.49%

KLF10

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 ht12d final 8 . 103663685 1890.77 C T PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.50 0.00 None None None None None None KLF10|0.950136718|2.26%

KRT1

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 ht12d final 12 . 53069222 2599.77 CA... C PASS 1/1 86 CODON_DELETION MODERATE None 0.35523 0.41420 None None None None None None KRT1|0.055743194|61%

KRTAP9-1

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 ht12d final 17 . 39346595 4026.77 T TG... PASS 1/1 68 CODON_INSERTION MODERATE None 0.90715 None None None None None None KRTAP9-1|0.001839367|91.43%

LAPTM4B

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 ht12d final 8 . 98788165 1023.77 C CG... PASS 0/1 65 FRAME_SHIFT HIGH None None None None None None None LAPTM4B|0.062005498|59.31%

LMBRD2

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 ht12d final 5 . 36136507 261.77 TG... T PASS 0/1 106 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None LMBRD2|0.515445024|15.13%
View ht12d final 5 . 36136519 300.77 G GT... PASS 0/1 91 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None LMBRD2|0.515445024|15.13%
View ht12d final 5 . 36136515 267.77 TCCAG T PASS 0/1 99 FRAME_SHIFT HIGH None None None None None None None LMBRD2|0.515445024|15.13%

LZTFL1

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 ht12d final 3 . 45877219 1782.77 T C PASS 1/1 48 SYNONYMOUS_CODING LOW None None None None None None None LZTFL1|0.104893226|50.25%

MANEA

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 ht12d final 6 . 96034881 730.77 A ATATG PASS 0/1 40 None None None 0.00080 None None None None None None MANEA|0.310030368|26.83%

MATN2

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 ht12d final 8 . 99047932 1039.77 T C PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.58 None None None None None None MATN2|0.150233308|42.97%,RPL30|0.444980425|18.44%

MESP2

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 ht12d final 15 . 90320134 400.77 AG... A PASS 0/1 24 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.69629 0.69630 0.33716 None None None None None None MESP2|0.100514843|51.05%

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 ht12d final 7 . 141778636 106.77 G T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None MGAM|0.010840797|80.22%
View ht12d final 7 . 141778639 103.77 A T PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.98 None None None None None None MGAM|0.010840797|80.22%
View ht12d final 7 . 141778644 100.77 G T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.16 None None None None None None MGAM|0.010840797|80.22%
View ht12d final 7 . 141778637 103.77 C T PASS 0/1 14 SYNONYMOUS_CODING LOW None None None None None None None MGAM|0.010840797|80.22%

MPLKIP

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 ht12d final 7 . 40173976 427.77 C A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.07 None None None None None None MPLKIP|0.377675621|22.22%

MROH8

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 ht12d final 20 . 35807790 1790.77 G GC... PASS 1/1 34 FRAME_SHIFT+STOP_GAINED HIGH None 0.32368 None None None None None None MROH8|0.030021625|69.39%,RPN2|0.272886189|29.64%

MTMR8

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 ht12d final X . 63488620 2402.77 C T PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.00 None None None None None None MTMR8|0.017673392|75.49%

MUC16

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 ht12d final 19 . 9063017 2458.77 A G PASS 0/1 174 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%
View ht12d final 19 . 9000205 61.77 C A PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.52 None None None None None None MUC16|0.001379523|93.47%
View ht12d final 19 . 9000194 52.77 G A MG_SNP_Filter 0/1 32 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%
View ht12d final 19 . 9024489 40.77 G A MG_SNP_Filter 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%
View ht12d final 19 . 9009675 184.77 A G PASS 0/1 42 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%
View ht12d final 19 . 9009663 69.77 A G MG_SNP_Filter 0/1 40 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%
View ht12d final 19 . 9000206 61.77 A G PASS 0/1 28 SYNONYMOUS_CODING LOW None None None None None None None MUC16|0.001379523|93.47%

MYH1

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 ht12d final 17 . 10415437 1276.77 A G PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 None None None None None None MYH1|0.517124152|15.1%