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INDIVIDUALS:

SNP LIST:
GROUPS:

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GENE LIST:
INDIVIDUALS:

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OMIM:
CLINICAL GENOMICS DATABASE:
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
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Genes at Omim

AARS2, ELOVL5, FARS2, LAMA1, LEF1, LMO2, NPC1L1, PKD1, PLCG2, PLEKHG5, SERPINB6, SLC6A19, SLC9A3, SPTA1, TCF3, TFRC, TRIOBP, VARS2, WDR11,
AARS2 Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
Combined oxidative phosphorylation deficiency 8, 614096 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
FARS2 Combined oxidative phosphorylation deficiency 14, 614946 (3)
?Spastic paraplegia 77, autosomal recessive, 617046 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LEF1 Sebaceous tumors, somatic (3)
LMO2 Leukemia, acute T-cell (2)
NPC1L1 [Ezetimibe, nonresponse to] (3)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PLCG2 Familial cold autoinflammatory syndrome 3, 614468 (3)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
PLEKHG5 Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SLC6A19 Iminoglycinuria, digenic, 242600 (3)
Hyperglycinuria, 138500 (3)
Hartnup disorder, 234500 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SPTA1 Spherocytosis, type 3, 270970 (3)
Pyropoikilocytosis, 266140 (3)
Elliptocytosis-2, 130600 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TFRC Immunodeficiency 46, 616740 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)

Genes at Clinical Genomics Database

AARS2, ELOVL5, FARS2, LAMA1, NPC1L1, PKD1, PLCG2, PLEKHG5, SERPINB6, SLC6A19, SPTA1, TCF3, TFRC, TRIOBP, VARS2, WDR11,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ELOVL5 Spinocerebellar ataxia 39
FARS2 Combined oxidative phosphorylation deficiency 14
LAMA1 Poretti-Boltshauser syndrome
NPC1L1 Ezetimibe, nonresponse to
PKD1 Polycystic kidney disease, adult type I
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
Familial cold autoinflammatory syndrome 3 (PLAID)
PLEKHG5 Spinal muscular atrophy, distal, autosomal recessive, 4
Charcot-Marie-Tooth disease C, recessive intermediate
SERPINB6 Deafness, autosomal recessive 91
SLC6A19 Hartnup disease
SPTA1 Ellipsocytosis 2
Pyropoikilocytosis , hereditary
Spherocytosis, type 3
TCF3 Agammaglobulinemia 8, autosomal dominant
TFRC Immunodeficiency 46
TRIOBP Deafness, autosomal recessive 28
VARS2 Combined oxidative phosphorylation deficiency 20
WDR11 Kallmann syndrome
Hypogonadotropic hypogonadism

Genes at HGMD

Summary

Number of Variants: 95
Number of Genes: 92

Export to: CSV

AARS2

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 23 recalibrated filtered postcgp gqfiltered 6 . 44272822 7310.76 C T PASS 1/1 91 STOP_GAINED HIGH NONSENSE None None None None None None None

ABCC3

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 23 recalibrated filtered postcgp gqfiltered 17 . 48762128 756.52 G A PASS 1/1 18 STOP_GAINED HIGH NONSENSE None None None None None None None

ADAM15

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 23 recalibrated filtered postcgp gqfiltered 1 . 155034817 31846.75 C T PASS 0/1 10 STOP_GAINED HIGH NONSENSE None None None None None None None

AGXT2

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 23 recalibrated filtered postcgp gqfiltered 5 . 35033601 14530.77 T C PASS 0/1 11 STOP_GAINED HIGH NONSENSE None None None None None None None

ALDH16A1

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 23 recalibrated filtered postcgp gqfiltered 19 . 49971760 46851.2 G A PASS 0/1 240 STOP_GAINED HIGH NONSENSE None None None None None None None

AMER3

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 23 recalibrated filtered postcgp gqfiltered 2 . 131521473 206.64 G T PASS 0/1 11 STOP_GAINED HIGH NONSENSE None None None None None None None

ARHGEF16

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 23 recalibrated filtered postcgp gqfiltered 1 . 3396399 1685.06 C T PASS 0/1 79 STOP_GAINED HIGH NONSENSE None None None None None None None

ATF6B

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 23 recalibrated filtered postcgp gqfiltered 6 . 32095904 4114.42 C T PASS 0/1 117 STOP_GAINED HIGH NONSENSE 4.29 None None None None None None None

ATP11A

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 23 recalibrated filtered postcgp gqfiltered 13 . 113459281 526.63 G A PASS 0/1 59 STOP_GAINED HIGH NONSENSE None None None None None None None

BRPF1

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 23 recalibrated filtered postcgp gqfiltered 3 . 9781618 322.05 T G PASS 0/1 43 STOP_GAINED HIGH NONSENSE None None None None None None None

C6orf195

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 23 recalibrated filtered postcgp gqfiltered 6 . 2623696 11021.39 G A PASS 0/1 42 STOP_GAINED HIGH NONSENSE 0.69 None None None None None None None

C6orf47

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 23 recalibrated filtered postcgp gqfiltered 6 . 31626851 44680.67 T A PASS 1/1 33 STOP_GAINED HIGH NONSENSE None None None None None None None

CCDC102A

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 23 recalibrated filtered postcgp gqfiltered 16 . 57562640 1793.43 C T PASS 1/1 6 STOP_GAINED HIGH NONSENSE None None None None None None None

CCDC88B

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 23 recalibrated filtered postcgp gqfiltered 11 . 64119002 23.77 C T PASS 0/1 7 STOP_GAINED HIGH NONSENSE None None None None None None None

CECR5

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 23 recalibrated filtered postcgp gqfiltered 22 rs776726039
dbSNP
17619195 357.71 G A PASS 0/1 6 STOP_GAINED HIGH NONSENSE None None None None None None None

CERS2

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 23 recalibrated filtered postcgp gqfiltered 1 . 150939931 520.63 C T PASS 0/1 49 STOP_GAINED HIGH NONSENSE None None None None None None None

CMBL

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 23 recalibrated filtered postcgp gqfiltered 5 . 10282367 22511.16 C T PASS 0/1 8 STOP_GAINED HIGH NONSENSE None None None None None None None

CNTLN

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 23 recalibrated filtered postcgp gqfiltered 9 . 17394538 62447.53 C T PASS 1/1 6 STOP_GAINED HIGH NONSENSE 0.55 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 9 . 39088492 58454.83 T A VQSRTrancheSNP99.90to100.00 0/1 68 STOP_GAINED HIGH NONSENSE 0.25 None None None None None None None

COPS8

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 23 recalibrated filtered postcgp gqfiltered 2 . 237994668 73655.2 C T PASS 1/1 39 STOP_GAINED HIGH NONSENSE None None None None None None None

CYP2W1

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 23 recalibrated filtered postcgp gqfiltered 7 . 1022891 4372.82 G A PASS 1/1 108 STOP_GAINED HIGH NONSENSE None None None None None None None

DAB2

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 23 recalibrated filtered postcgp gqfiltered 5 . 39389959 50808.89 C A PASS 1/1 47 STOP_GAINED HIGH NONSENSE None None None None None None None

DAXX

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 23 recalibrated filtered postcgp gqfiltered 6 . 33288694 104255.2 T C PASS 1/1 59 STOP_GAINED HIGH NONSENSE -0.14 None None None None None None None

DDX25

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 23 recalibrated filtered postcgp gqfiltered 11 . 125778321 24646.54 C T PASS 1/1 4 STOP_GAINED HIGH NONSENSE None None None None None None None

DHX34

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 23 recalibrated filtered postcgp gqfiltered 19 . 47879259 1300.37 C T PASS 0/1 16 STOP_GAINED HIGH NONSENSE None None None None None None None

DNAH2

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 23 recalibrated filtered postcgp gqfiltered 17 . 7689484 7837.96 C T PASS 0/1 11 STOP_GAINED HIGH NONSENSE None None None None None None None

EFCAB6

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 23 recalibrated filtered postcgp gqfiltered 22 . 43933317 4065.88 G A PASS 1/1 12 STOP_GAINED HIGH NONSENSE None None None None None None None

ELOVL5

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 23 recalibrated filtered postcgp gqfiltered 6 . 53133990 15761.48 G A PASS 0/1 8 STOP_GAINED HIGH NONSENSE None None None None None None None

EMC4

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 23 recalibrated filtered postcgp gqfiltered 15 . 34520668 33861.65 C T PASS 0/1 191 STOP_GAINED HIGH NONSENSE None None None None None None None

EPPK1

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 23 recalibrated filtered postcgp gqfiltered 8 . 144946362 5708.86 G A PASS 1/1 84 STOP_GAINED HIGH NONSENSE None None None None None None None

FAM178A

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 23 recalibrated filtered postcgp gqfiltered 10 . 102676884 19480.39 C T PASS 0/1 86 STOP_GAINED HIGH NONSENSE None None None None None None None

FAM205A

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 23 recalibrated filtered postcgp gqfiltered 9 . 34723747 2443.63 C A PASS 0/1 154 STOP_GAINED HIGH NONSENSE 1.11 None None None None None None None

FAM206A

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 23 recalibrated filtered postcgp gqfiltered 9 . 111701910 2659.7 C T PASS 0/1 5 STOP_GAINED HIGH NONSENSE None None None None None None None

FARS2

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 23 recalibrated filtered postcgp gqfiltered 6 . 5545421 114477.81 C T PASS 0/1 16 STOP_GAINED HIGH NONSENSE None None None None None None None

FASTKD3

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 23 recalibrated filtered postcgp gqfiltered 5 . 7866854 149558.77 G C PASS 1/1 64 STOP_GAINED HIGH NONSENSE None None None None None None None

FILIP1

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 23 recalibrated filtered postcgp gqfiltered 6 . 76072606 130.82 C A PASS 0/1 9 STOP_GAINED HIGH NONSENSE None None None None None None None

FUT5

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 23 recalibrated filtered postcgp gqfiltered 19 . 5867166 23263.56 G A PASS 0/1 109 STOP_GAINED HIGH NONSENSE 0.94 None None None None None None None

GRAMD1A

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 23 recalibrated filtered postcgp gqfiltered 19 . 35500141 28217.13 G T PASS 0/1 51 STOP_GAINED HIGH NONSENSE None None None None None None None

ILK

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 23 recalibrated filtered postcgp gqfiltered 11 . 6631387 103481.89 C T PASS 0/1 183 STOP_GAINED HIGH NONSENSE None None None None None None None

ILVBL

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 23 recalibrated filtered postcgp gqfiltered 19 . 15226974 2230.74 C T PASS 1/1 27 STOP_GAINED HIGH NONSENSE None None None None None None None

KLRB1

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 23 recalibrated filtered postcgp gqfiltered 12 . 9752400 1820.39 C T PASS 1/1 44 STOP_GAINED HIGH NONSENSE None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 18 . 7040198 5525.4 T C PASS 0/1 96 STOP_GAINED HIGH NONSENSE -0.08 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6999629 24153.29 T C PASS 0/1 40 STOP_GAINED HIGH NONSENSE None None None None None None None

LEF1

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 23 recalibrated filtered postcgp gqfiltered 4 . 109010301 28040.23 C T PASS 1/1 75 STOP_GAINED HIGH NONSENSE None None None None None None None

LILRB5

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 23 recalibrated filtered postcgp gqfiltered 19 . 54758731 87378.01 A C PASS 1/1 13 STOP_GAINED HIGH NONSENSE None None None None None None None

LIMK2

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 23 recalibrated filtered postcgp gqfiltered 22 . 31661978 1550.35 C T PASS 0/1 12 STOP_GAINED HIGH NONSENSE None None None None None None None

LMO2

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 23 recalibrated filtered postcgp gqfiltered 11 . 33881066 629.53 C A PASS 0/1 47 STOP_GAINED HIGH NONSENSE None None None None None None None

MAGEB2

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 23 recalibrated filtered postcgp gqfiltered X . 30237403 939.96 C T PASS 1/1 18 STOP_GAINED HIGH NONSENSE None None None None None None None

MEGF9

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 23 recalibrated filtered postcgp gqfiltered 9 . 123367625 2175.66 C T PASS 0/1 61 STOP_GAINED HIGH NONSENSE None None None None None None None

MLLT4

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 23 recalibrated filtered postcgp gqfiltered 6 . 168319546 46.49 G A PASS 0/1 4 STOP_GAINED HIGH NONSENSE 8.92 None None None None None None None

MST1

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 23 recalibrated filtered postcgp gqfiltered 3 rs2761539
dbSNP
49724172 932.32 C T PASS 0/1 39 STOP_GAINED HIGH NONSENSE None None None None None None None

MYO10

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 23 recalibrated filtered postcgp gqfiltered 5 . 16794807 3969.63 G A PASS 0/1 79 STOP_GAINED HIGH NONSENSE None None None None None None None

NDUFV3

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 23 recalibrated filtered postcgp gqfiltered 21 . 44323711 13389.95 C T PASS 0/1 45 STOP_GAINED HIGH NONSENSE None None None None None None None

NEURL4

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 23 recalibrated filtered postcgp gqfiltered 17 . 7229843 75290.53 G A PASS 0/1 75 STOP_GAINED HIGH NONSENSE None None None None None None None

NISCH

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 23 recalibrated filtered postcgp gqfiltered 3 . 52512471 111266.94 C T PASS 0/1 77 STOP_GAINED HIGH NONSENSE None None None None None None None

NLGN2

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 23 recalibrated filtered postcgp gqfiltered 17 . 7318388 109277.42 G T PASS 0/1 88 STOP_GAINED HIGH NONSENSE None None None None None None None

NOL7

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 23 recalibrated filtered postcgp gqfiltered 6 . 13620645 23828.38 A T PASS 0/1 5 STOP_GAINED HIGH NONSENSE None None None None None None None

NPC1L1

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 23 recalibrated filtered postcgp gqfiltered 7 . 44579703 67039.47 T C PASS 0/1 56 STOP_GAINED HIGH NONSENSE None None None None None None None

PANK3

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 23 recalibrated filtered postcgp gqfiltered 5 . 167993250 5832.29 T A PASS 0/1 28 STOP_GAINED HIGH NONSENSE None None None None None None None

PDZD2

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 23 recalibrated filtered postcgp gqfiltered 5 . 32058009 95339.4 A G PASS 1/1 75 STOP_GAINED HIGH NONSENSE None None None None None None None

PITPNM2

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 23 recalibrated filtered postcgp gqfiltered 12 . 123471298 1676.6 C T PASS 0/1 74 STOP_GAINED HIGH NONSENSE None None None None None None None

PKD1

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 23 recalibrated filtered postcgp gqfiltered 16 . 2153455 66350.27 T C PASS 1/1 87 STOP_GAINED HIGH NONSENSE None None None None None None None

PLCG2

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 23 recalibrated filtered postcgp gqfiltered 16 . 81927346 982.33 T A PASS 0/1 51 STOP_GAINED HIGH NONSENSE None None None None None None None

PLEKHG4B

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 23 recalibrated filtered postcgp gqfiltered 5 . 174125 7252.32 G A PASS 1/1 11 STOP_GAINED HIGH NONSENSE None None None None None None None

PLEKHG5

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 23 recalibrated filtered postcgp gqfiltered 1 . 6533472 14382.28 G A PASS 0/1 41 STOP_GAINED HIGH NONSENSE None None None None None None None

PPP1R1A

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 23 recalibrated filtered postcgp gqfiltered 12 . 54974821 411.39 C T PASS 0/1 12 STOP_GAINED HIGH NONSENSE None None None None None None None

PRUNE

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 23 recalibrated filtered postcgp gqfiltered 1 . 150998101 270784.94 G T PASS 1/1 46 STOP_GAINED HIGH NONSENSE 1.71 None None None None None None None

PTBP3

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 23 recalibrated filtered postcgp gqfiltered 9 . 115038138 4980.24 T A PASS 1/1 29 STOP_GAINED HIGH NONSENSE None None None None None None None

PVR

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 23 recalibrated filtered postcgp gqfiltered 19 . 45165034 5312.33 C T PASS 0/1 60 STOP_GAINED HIGH NONSENSE None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 12 . 48132929 13315.29 G A PASS 0/1 125 STOP_GAINED HIGH NONSENSE 3.12 None None None None None None None

RBM25

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 23 recalibrated filtered postcgp gqfiltered 14 . 73569909 2929.8 G T PASS 0/1 100 STOP_GAINED HIGH NONSENSE None None None None None None None

RECK

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 23 recalibrated filtered postcgp gqfiltered 9 . 36105267 47326.5 A G PASS 0/1 83 STOP_GAINED HIGH NONSENSE None None None None None None None

SERPINB6

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 23 recalibrated filtered postcgp gqfiltered 6 . 2949153 7814.33 G A PASS 0/1 52 STOP_GAINED HIGH NONSENSE None None None None None None None

SLC10A4

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 23 recalibrated filtered postcgp gqfiltered 4 . 48490705 418.49 C T PASS 0/1 23 STOP_GAINED HIGH NONSENSE None None None None None None None

SLC6A19

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 23 recalibrated filtered postcgp gqfiltered 5 . 1210674 7428.88 G A PASS 1/1 11 STOP_GAINED HIGH NONSENSE None None None None None None None

SLC9A3

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 23 recalibrated filtered postcgp gqfiltered 5 . 483560 687.01 G A PASS 0/1 20 STOP_GAINED HIGH NONSENSE None None None None None None None

SOGA2

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 23 recalibrated filtered postcgp gqfiltered 18 . 8706145 749.68 C T PASS 1/1 25 STOP_GAINED HIGH NONSENSE 2.21 None None None None None None None

SPTA1

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 23 recalibrated filtered postcgp gqfiltered 1 . 158612753 31205.58 G A PASS 0/1 32 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 158612762 33966.58 G A PASS 0/1 37 STOP_GAINED HIGH NONSENSE None None None None None None None

SULT1A1

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 23 recalibrated filtered postcgp gqfiltered 16 . 28620039 62778.5 A T PASS 0/1 29 STOP_GAINED HIGH NONSENSE None None None None None None None

TCF3

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 23 recalibrated filtered postcgp gqfiltered 19 . 1619340 17318.38 T C PASS 1/1 48 STOP_GAINED HIGH NONSENSE None None None None None None None

TEX2

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 23 recalibrated filtered postcgp gqfiltered 17 . 62270964 70772.66 G A PASS 0/1 144 STOP_GAINED HIGH NONSENSE None None None None None None None

TFRC

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 23 recalibrated filtered postcgp gqfiltered 3 . 195778892 177.15 G T PASS 0/1 148 STOP_GAINED HIGH NONSENSE -0.78 None None None None None None None

TRIOBP

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 23 recalibrated filtered postcgp gqfiltered 22 . 38109340 7490.55 G A PASS 0/1 53 STOP_GAINED HIGH NONSENSE None None None None None None None

USP30

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 23 recalibrated filtered postcgp gqfiltered 12 . 109511329 7647.3 C T PASS 0/1 19 STOP_GAINED HIGH NONSENSE None None None None None None None

VARS2

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 23 recalibrated filtered postcgp gqfiltered 6 . 30893448 3382.51 G A PASS 0/1 8 STOP_GAINED HIGH NONSENSE None None None None None None None

WDR11

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 23 recalibrated filtered postcgp gqfiltered 10 . 122618250 743.63 G A PASS 0/1 91 STOP_GAINED HIGH NONSENSE 5.33 None None None None None None None

WDR13

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 23 recalibrated filtered postcgp gqfiltered X . 48460513 3656.75 G A PASS 1/1 12 STOP_GAINED HIGH NONSENSE None None None None None None None

WDR18

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 23 recalibrated filtered postcgp gqfiltered 19 . 994233 1247.67 C T PASS 0/1 122 STOP_GAINED HIGH NONSENSE None None None None None None None

ZFPM1

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 23 recalibrated filtered postcgp gqfiltered 16 . 88599640 16299.46 G A PASS 0/1 12 STOP_GAINED HIGH NONSENSE None None None None None None None

ZFYVE1

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 23 recalibrated filtered postcgp gqfiltered 14 . 73491111 1208.63 C A PASS 0/1 129 STOP_GAINED HIGH NONSENSE 0.70 None None None None None None None

ZNF414

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 23 recalibrated filtered postcgp gqfiltered 19 . 8577276 21028.26 T C PASS 0/1 63 STOP_GAINED HIGH NONSENSE None None None None None None None

ZNF541

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 23 recalibrated filtered postcgp gqfiltered 19 . 48048289 40644.8 A T PASS 0/1 17 STOP_GAINED HIGH NONSENSE None None None None None None None

ZNF563

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 23 recalibrated filtered postcgp gqfiltered 19 . 12430157 20981.27 T A PASS 0/1 40 STOP_GAINED HIGH NONSENSE 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 12429695 3012.61 G A PASS 0/1 249 STOP_GAINED HIGH NONSENSE None None None None None None None