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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

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MCAP

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Genes at Omim

ADRA2B, ALMS1, AR, ATN1, ATXN7, CTSA, DNAAF1, EIF2AK4, HADHB, HTT, MEF2A, NEFH, PCLO, PRKCSH, RBM12, TBP, WDR66, ZSWIM6,
ADRA2B Epilepsy, myoclonic, familial adult, 2, 607876 (3)
ALMS1 Alstrom syndrome, 203800 (3)
AR Androgen insensitivity, 300068 (3)
Androgen insensitivity, partial, with or without breast cancer, 312300 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Hypospadias 1, X-linked, 300633 (3)
Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
CTSA Galactosialidosis, 256540 (3)
DNAAF1 Ciliary dyskinesia, primary, 13, 613193 (3)
EIF2AK4 Pulmonary venoocclusive disease 2, 234810 (3)
HADHB Trifunctional protein deficiency, 609015 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
RBM12 {Schizophrenia 19, susceptibility to}, 617629 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
WDR66 Spermatogenic failure 33, 618152 (3)
ZSWIM6 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3)
Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ALMS1, AR, ATN1, ATXN7, CTSA, DNAAF1, EIF2AK4, HADHB, HTT, NEFH, PRKCSH, SPG7, TBP, ZSWIM6,
ALMS1 Alstrom syndrome
AR Androgen insensitivity
Androgen insensitivity, partial
ATN1 Dentatorubro-pallidoluysian atrophy
ATXN7 Spinocerebellar ataxia 7
CTSA Galactosialidosis
DNAAF1 Ciliary dyskinesia, primary, 13
EIF2AK4 Pulmonary venoocclusive disease 2
HADHB Trifunctional protein deficiency
HTT Huntington disease
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
PRKCSH Polycystic liver disease
SPG7 Spastic paraplegia 7, autosomal recessive
TBP Spinocerebellar ataxia 17
ZSWIM6 Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 113
Number of Genes: 107

Export to: CSV

AC104667.3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 2 rs146534321
dbSNP Clinvar
238499863 730.13 A AA... PASS 0/1 47 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.51637 0.51640 None None None None None None RAB17|0.004320407|86.57%

ADRA2B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 2 rs34667759,rs28365031,rs29000568
dbSNP Clinvar
96780986 8025.12 C CT... PASS 0/1 235 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.24860 0.47060 0.29666 None None None None None None ADRA2B|0.088340463|53.59%

AKAP12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 6 rs3842128,rs113116275,rs34338625
dbSNP Clinvar
151674116 2481.29 T TGAG PASS 1/1 101 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.70387 0.70390 0.22056 None None None None None None AKAP12|0.001631589|92.22%

AL445989.1

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 combined sample_99.variant44 13 rs757251234
dbSNP Clinvar
64320959 1221.01 C CC... PASS 0/1 53 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None None

ALMS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 2 rs587621330,rs34628045
dbSNP Clinvar
73675227 2725.07 T TCTC PASS 0/1 132 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.60044 0.60040 0.44921 None None None None None None ALMS1|0.012791041|78.65%
View combined sample_99.variant44 2 rs864622738
dbSNP Clinvar
73613031 601.68 TG... TG... PASS 0/1 65 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ALMS1|0.012791041|78.65%

AR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 X . 66765158 827.65 TG... TG... PASS 9/9 5 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None AR|0.999436019|0.35%

ASPHD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 16 rs140411458,rs35784618
dbSNP Clinvar
29912802 5877.95 G GGGT PASS 0/1 327 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.20228 0.20230 0.35699 None None None None None None ASPHD1|0.262036934|30.55%

ATN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 12 . 7045891 3369.13 AC... AC... PASS 0/4 109 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATN1|0.702926343|8.41%

ATXN7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 3 rs576518931
dbSNP Clinvar
63898360 616.81 G GG... PASS 2/2 20 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.02137 0.02137 None None None None None None ATXN7|0.45901663|17.72%

BCL6B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 17 rs146207245,rs72254884
dbSNP Clinvar
6928019 425.63 C CC... PASS 1/1 77 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.01438 0.66230 None None None None None None BCL6B|0.213572706|35.16%

BHLHE22

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 8 rs544639534
dbSNP Clinvar
65493617 2245.22 T TG... PASS 0/1 74 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00280 0.07688 None None None None None None BHLHE22|0.316142463|26.34%

BRI3BP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 12 rs546819378,rs61379857
dbSNP Clinvar
125478381 1474.73 C CC... PASS 0/2 60 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None BRI3BP|0.039147799|66.05%

BZRAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 17 rs200436316
dbSNP Clinvar
56386607 1698.69 G GT... PASS 0/1 114 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.01757 0.01757 0.04258 None None None None None None BZRAP1|0.092853627|52.65%

C11orf80

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 11 rs567536854,rs71045961
dbSNP Clinvar
66512290 8376.05 G GG... PASS 1/1 179 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.35174 None None None None None None C11orf80|0.023109956|72.63%

C18orf25

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 18 rs34068795,rs397790301
dbSNP Clinvar
43833701 1533.77 T TCTG PASS 0/1 105 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.69269 0.69270 None None None None None None C18orf25|0.503978181|15.65%

C6orf223

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 6 rs755059764
dbSNP Clinvar
43970503 981.91 CG... CG... PASS 0/1 63 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None C6orf223|0.002567638|89.54%

CAPNS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 19 . 36632024 340.74 G GGGC PASS 0/1 14 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00519 None None None None None None CAPNS1|0.214831172|35.02%

CBX4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 17 rs754126884
dbSNP Clinvar
77807917 3185.07 T TG... PASS 0/1 154 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.07301 None None None None None None CBX4|0.061366203|59.47%

CELSR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 1 rs144034706,rs59201433
dbSNP Clinvar
109792735 901.58 A ACGC PASS 0/1 113 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.56829 0.56830 0.37763 None None None None None None CELSR2|0.181244223|38.88%

CLEC17A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 19 rs548360441,rs34295949
dbSNP Clinvar
14694175 96.12 T TGGA PASS 0/1 42 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.08267 0.08267 None None None None None None CLEC17A|0.002254233|90.27%

CTBP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 10 rs529129641
dbSNP Clinvar
126715159 898.89 A AG... PASS 0/1 48 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.10723 0.10720 0.08355 None None None None None None CTBP2|0.585435328|12.33%

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 combined sample_99.variant44 20 rs397784956
dbSNP Clinvar
44520237 1505.46 CCTG C,... PASS 1/1 113 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00140 0.64940 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 combined sample_99.variant44 X rs751414438
dbSNP Clinvar
27765399 807.82 AG... AG... PASS 2/2 23 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None DCAF8L2|0.000974393|95.61%

DCP1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 12 rs149912567,rs749249960,rs111543431,rs71057810
dbSNP Clinvar
2062323 1578.61 T TTGC PASS 0/1 112 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None DCP1B|0.012911973|78.55%

DLX6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 7 rs570498188
dbSNP Clinvar
96635420 1276.63 AG... AG... PASS 0/1 70 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00280 0.00280 None None None None None None DLX6|0.879390184|3.97%

DNAAF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 16 rs2288019
dbSNP Clinvar
84209634 2803.48 C G,... PASS 0/1 105 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.53175 0.53170 0.48931 None None None None None None DNAAF1|0.000486573|98.51%

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 combined sample_99.variant44 11 . 6567895 6029.68 C CT... PASS 1/1 164 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99421 0.06595 None None None None None None DNHD1|0.019835865|74.26%

E2F4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 16 rs774472392,rs3830472
dbSNP Clinvar
67229793 248.14 ACAG A,... PASS 0/2 89 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None E2F4|0.500599501|15.79%

EIF2AK4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 15 rs377237751
dbSNP Clinvar
40268998 3755.09 G GG... PASS 0/1 220 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.08986 0.08986 0.08258 None None None None None None EIF2AK4|0.222061517|34.2%

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 combined sample_99.variant44 17 . 72889676 7535.18 G GG... PASS 2/2 209 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None FADS6|0.029483585|69.62%

FAM120C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 X rs781789688
dbSNP Clinvar
54209302 3810.97 G GG... PASS 1/1 79 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00079 0.02040 None None None None None None FAM120C|0.175300288|39.59%

FAM171B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 2 rs144403657,rs71017336
dbSNP Clinvar
187559047 6422.76 G GCAA PASS 1/1 157 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.51957 0.51960 None None None None None None FAM171B|0.143209943|43.96%

FAM194A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 3 . 150421527 226.36 C CT... PASS 0/1 12 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ERICH6|0.001365722|93.54%

FAM47C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 X rs782034796
dbSNP Clinvar
37028331 4069.06 T TC... PASS 1/1 74 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None FAM47C|0.000799995|96.66%

FAM90A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 12 rs71265055
dbSNP Clinvar
8374781 3348.01 C CACG PASS 1/1 160 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.43271 0.43270 0.47518 None None None None None None FAM90A1|0.000638586|97.62%

FERD3L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 7 rs71017023
dbSNP Clinvar
19184746 4175.7 C CTCT PASS 0/1 147 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.16693 0.16690 0.20123 None None None None None None FERD3L|0.185457241|38.31%

FMNL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 17 rs372669041
dbSNP Clinvar
43319434 2179.47 TCCG T,... PASS 0/2 112 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.26358 0.26360 None None None None None None FMNL1|0.056263942|60.84%

FMNL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 2 rs5835439
dbSNP Clinvar
153476066 826.25 G C,... PASS 2/2 13 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99800 0.99800 None None None None None None FMNL2|0.571016453|12.93%

FOXF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 6 rs147426137,rs397731476,rs111257067,rs58230522
dbSNP Clinvar
1391085 379.89 G GGGC PASS 1/1 49 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.39277 0.39280 0.37182 None None None None None None FOXF2|0.273083947|29.64%

FRG1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 20 rs112430454
dbSNP Clinvar
29625925 7267.4 C CTTG PASS 0/1 238 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None FRG1B|0.009509512|81.26%

FZD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 7 rs139480179,rs71292991
dbSNP Clinvar
90894459 899.02 A ACCG PASS 1/1 24 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.37420 0.37420 0.38935 None None None None None None FZD1|0.727470296|7.75%

GDF7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 2 rs563301908
dbSNP Clinvar
20867122 322.17 G GG... PASS 1/1 4 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.81090 0.81090 None None None None None None GDF7|0.067640553|57.97%

GGN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 19 rs539043327
dbSNP Clinvar
38876405 914.37 A AG... PASS 0/1 58 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.09565 0.09565 0.03623 None None None None None None GGN|0.021593263|73.4%

GOLGA6L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 15 rs746004439
dbSNP Clinvar
23686113 206.3 C CT... DRAGENHardINDEL 0/1 127 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None GOLGA6L2|0.000844228|96.42%

HADHB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 2 rs3839049,rs59947000
dbSNP Clinvar
26477125 17279.8 G GACT PASS 1/1 349 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.70947 0.70950 0.08686 None None None None None None HADHB|0.207953227|35.81%

HCLS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 3 rs150627065
dbSNP Clinvar
121351315 5057.27 G GG... PASS 0/1 376 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.24121 0.24120 None None None None None None HCLS1|0.153988686|42.41%

HOXD9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 2 rs56007470,rs529626130,rs397814627
dbSNP Clinvar
176988290 1561.69 C CGCA PASS 1/1 80 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.33830 None None None None None None HOXD9|0.934212013|2.67%

HRC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 19 rs147238387,rs551367394,rs57199624
dbSNP Clinvar
49657889 2305.59 T TTCC PASS 0/1 91 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None HRC|0.0162712|76.28%

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 combined sample_99.variant44 4 . 3076603 922.28 CC... CC... PASS 2/8 91 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None HTT|0.732159891|7.59%

IFI27

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 14 rs3833507
dbSNP Clinvar
94582130 2376.44 T TG... PASS 0/1 130 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.65775 0.65770 0.34781 None None None None None None IFI27|0.001693986|91.92%

IGFBP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 2 rs571770573,rs11282764
dbSNP Clinvar
217498290 74.5 C CG... PASS 1/1 37 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.95228 0.95230 0.21212 None None None None None None IGFBP2|0.222468361|34.13%

KCNG2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 18 rs71338073
dbSNP Clinvar
77623691 1460.27 G GGGC PASS 0/1 49 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.28914 0.28910 None None None None None None KCNG2|0.027109777|70.82%

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 combined sample_99.variant44 17 rs754623058
dbSNP Clinvar
7750177 297.71 TA... TA... PASS 0/1 22 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None KDM6B|0.170012096|40.32%

KIAA1211

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 4 rs138358443
dbSNP Clinvar
57180576 315.98 C CG... PASS 0/1 41 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.26957 0.26960 0.30504 None None None None None None KIAA1211|0.006705951|83.84%

KRTAP1-3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 17 . 39190954 641.66 G GC... PASS 0/1 96 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None KRTAP1-3|0.019429401|74.46%

KRTAP4-8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 17 rs761473739
dbSNP Clinvar
39254142 9358.95 A AC... PASS 1/1 176 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None KRTAP4-8|0.007356666|83.19%

KRTAP5-10

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 combined sample_99.variant44 11 . 71276909 1723.88 G GG... PASS 0/1 12 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None KRTAP5-10|0.003541067|87.72%
View combined sample_99.variant44 11 rs200855172,rs748790849,rs71049990
dbSNP Clinvar
71276657 865.05 A G,... PASS 2/2 45 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.44369 0.44370 None None None None None None KRTAP5-10|0.003541067|87.72%

KRTAP5-7

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 combined sample_99.variant44 11 rs771895560
dbSNP Clinvar
71238675 5479.02 C CC... PASS 1/1 123 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None KRTAP5-7|0.003525398|87.73%

KRTAP5-8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 11 rs537752041
dbSNP Clinvar
71249125 2152.14 A AG... PASS 1/1 15 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.43371 0.43370 None None None None None None KRTAP5-8|0.002681595|89.29%
View combined sample_99.variant44 11 . 71249532 2735.42 C CC... PASS 0/1 282 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None KRTAP5-8|0.002681595|89.29%

KRTAP9-9

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 combined sample_99.variant44 17 rs540633489
dbSNP Clinvar
39411670 87.23 T TA... PASS 1/1 8 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.49681 0.49680 None None None None None None KRTAP9-9|0.005324379|85.39%

LCE4A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 1 rs6143428
dbSNP Clinvar
152681680 526.66 C CA... PASS 0/1 144 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00080 0.80050 None None None None None None LCE4A|0.003799402|87.31%

LNP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 3 rs71132521
dbSNP Clinvar
100170600 1149.28 A AT... PASS 0/1 46 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None LNP1|0.019558518|74.41%

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 combined sample_99.variant44 19 rs142507475,rs397751431
dbSNP Clinvar
35758275 1514.94 G GGGA PASS 1/1 110 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.32073 None None None None None None LSR|0.042036693|65.11%

LTF

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 3 rs10662431,rs55665884
dbSNP Clinvar
46501284 2379.38 C CCTT PASS 1/1 81 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99042 0.99040 0.02045 None None None None None None LTF|0.008447646|82.21%

MAGEF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 3 rs34995413,rs112819846,rs397720350
dbSNP Clinvar
184429133 4106.19 A ATCC PASS 1/1 106 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None MAGEF1|0.006287467|84.31%

MAP3K4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 6 rs569609736
dbSNP Clinvar
161413044 3586.89 A ACCG PASS 0/1 160 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.03694 0.03694 None None None None None None MAP3K4|0.062523546|59.19%

MDS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 1 rs3072132,rs5773050
dbSNP Clinvar
23966894 978.48 T TAAG PASS 1/1 47 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.27676 0.27680 None None None None None None MDS2|0.001224294|94.31%

MEF2A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 15 rs748617871
dbSNP Clinvar
100252709 2340.11 CC... CC... PASS 0/1 76 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.29319 None None None None None None MEF2A|0.792629794|6.04%

MICAL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 22 rs1013478163
dbSNP Clinvar
18314651 1022.01 G GTCC PASS 0/1 43 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None MICAL3|0.205641571|36.04%

MMP17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 12 rs559842978
dbSNP Clinvar
132313098 951.22 G GG... PASS 1/1 24 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.95387 0.95390 None None None None None None MMP17|0.027229516|70.78%

MUC21

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 6 rs772537557
dbSNP Clinvar
30954380 3464.56 C CT... PASS 0/1 125 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None MUC21|0.000319297|99.35%

MUC3A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 7 rs111723000,rs374888812
dbSNP Clinvar
100550032 4863.81 C CCCT PASS 0/1 434 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None MUC3A|0.001683398|91.94%
View combined sample_99.variant44 7 rs761895994
dbSNP Clinvar
100550281 308.4 C CTCA PASS 0/1 289 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None MUC3A|0.001683398|91.94%

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 combined sample_99.variant44 3 rs142781032,rs71180965
dbSNP Clinvar
195518112 5454.09 T TG... PASS 1/1 99 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.72863 0.72860 0.25234 None None None None None None MUC4|0.005441696|85.29%
View combined sample_99.variant44 3 . 195512232 8080.83 T TG... PASS 0/1 786 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%

NEFH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 22 rs147489453
dbSNP Clinvar
29885567 342.78 A AA... PASS 1/1 113 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.37184 None None None None None None NEFH|0.345641231|24.44%

NOP9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 14 rs113258190
dbSNP Clinvar
24769849 2155.73 A AG... PASS 2/2 105 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None NOP9|0.084378166|54.34%

NR1H2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 19 rs55652650,rs57917904,rs397738863
dbSNP Clinvar
50881820 3619.7 A AAAC PASS 0/1 304 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.54812 0.54810 0.20921 None None None None None None NR1H2|0.484472054|16.53%

OR7C2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 19 rs3044711,rs397816267
dbSNP Clinvar
15052983 5491.36 T TATC PASS 1/1 143 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99381 0.99380 0.01166 None None None None None None OR7C2|0.001466113|92.96%

PCGF6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 10 rs113359610,rs60968810
dbSNP Clinvar
105110740 2013.2 A AG... PASS 1/1 96 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.44649 0.44650 0.31420 None None None None None None PCGF6|0.176496571|39.45%

PCLO

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 7 rs10630259
dbSNP Clinvar
82581488 6874.93 T TTCA PASS 1/1 104 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.99401 0.99400 0.01408 None None None None None None PCLO|0.112401256|48.79%

PEG3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 19 rs572444111
dbSNP Clinvar
57325727 747.66 A ATCT PASS 0/1 62 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.00040 0.00240 None None None None None None ZIM2|0.002863663|88.9%,PEG3|0.013876256|77.96%

PHF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 9 rs149736720
dbSNP Clinvar
96439004 1308.31 C CC... PASS 1/1 48 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.47304 0.47300 0.33252 None None None None None None PHF2|0.081704166|54.82%

PNMAL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 19 rs147338403
dbSNP Clinvar
46997016 609.69 C CC... PASS 0/1 44 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.07967 0.07967 0.11891 None None None None None None PPP5D1|0.014760833|77.32%,PNMAL2|0.001162447|94.64%

POU4F2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 4 rs763100230
dbSNP Clinvar
147560457 5886.84 TG... TG... PASS 1/1 140 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None POU4F2|0.829800839|5.08%

PPM1E

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 17 rs201186780
dbSNP Clinvar
56833457 8342.12 G GG... PASS 0/1 305 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.38898 0.38900 None None None None None None PPM1E|0.33176433|25.36%

PRICKLE4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 6 rs140326303
dbSNP Clinvar
41754573 6048.61 C CCTT PASS 1/1 388 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.60723 0.60720 0.44942 None None None None None None PRICKLE4|0.024861763|71.86%

PRKCSH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 19 rs71166603
dbSNP Clinvar
11558340 1902.38 AG... A,... PASS 1/2 110 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None PRKCSH|0.082465223|54.69%

RAB44

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 6 rs145193181
dbSNP Clinvar
36688962 3933.47 C CA... PASS 0/1 166 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.01298 0.13800 None None None None None None RAB44|0.013840487|77.99%

RBM12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 20 rs201181145
dbSNP Clinvar
34240740 2042.06 A AG... PASS 0/1 121 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None CPNE1|0.256351532|31.02%,RBM12|0.539214955|14.23%

REC8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 14 rs10690822
dbSNP Clinvar
24646406 3318.7 G GGAA PASS 0/1 86 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.01692 None None None None None None REC8|0.030069397|69.37%

SH3BGR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 21 rs3831201,rs111921581,rs397694871
dbSNP Clinvar
40883671 1491.08 G GAGA PASS 1/1 63 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.44871 None None None None None None SH3BGR|0.025744385|71.44%

SOWAHA

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 combined sample_99.variant44 5 rs566990199
dbSNP Clinvar
132149322 679.36 G GG... PASS 0/1 33 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.14177 0.14180 0.07569 None None None None None None SOWAHA|0.016247657|76.29%

SPG7

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 combined sample_99.variant44 16 rs781285980
dbSNP Clinvar
89574832 1291.04 G GTGC PASS 0/1 75 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None SPG7|0.052707902|61.82%

STK39

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 2 rs537577117,rs754360919
dbSNP Clinvar
169103796 259.9 C CG... PASS 0/1 6 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.36582 0.36580 0.41489 None None None None None None STK39|0.757526204|6.91%
View combined sample_99.variant44 2 . 169103865 706.35 G GGCC PASS 0/1 18 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.01977 None None None None None None STK39|0.757526204|6.91%

SYNGR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 22 rs149306472
dbSNP Clinvar
39777822 3754.92 C CCAA PASS 0/1 240 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.86082 0.86080 0.25917 None None None None None None SYNGR1|0.100294024|51.11%