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 CHR:

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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 50

+ Genes associated with diseases 21

Genes at Omim

AR, CACNA1A, CDSN, CHRNA3, HYDIN, IRF5, KIF1A, MEF2A, MUC5B, MYO7A, PREPL, PRKRA, ROBO3, SLC3A1, SMARCA2, SMPD1, TMC1, TMIE, TSEN54, TTI2, WWC1,
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)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CDSN Hypotrichosis 2, 146520 (3)
Peeling skin syndrome 1, 270300 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IRF5 {Inflammatory bowel disease 14}, 612245 (3)
{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
PREPL Myasthenic syndrome, congenital, 22, 616224 (3)
PRKRA Dystonia 16, 612067 (3)
ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
SLC3A1 Cystinuria, 220100 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SMPD1 Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)
TMC1 Deafness, autosomal dominant 36, 606705 (3)
Deafness, autosomal recessive 7, 600974 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)
TTI2 Mental retardation, autosomal recessive 39, 615541 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)

Genes at Clinical Genomics Database

AR, CACNA1A, CDSN, KIF1A, MYO7A, PRKRA, ROBO3, SLC3A1, SMARCA2, SMPD1, TMC1, TMIE, TSEN54, TTI2, ZNF480,
AR Androgen insensitivity
Androgen insensitivity, partial
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CDSN Hypotrichosis 2
Peeling skin syndrome 1
KIF1A Mental retardation, autosomal dominant 9
Neuropathy, hereditary sensory, type IIC
Spastic paraplegia 30, autosomal recessive
MYO7A Deafness, autosomal recessive 2
Usher syndrome, type 1B
PRKRA Dystonia 16
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
SLC3A1 Cystinuria
SMARCA2 Nicolaides-Baraitser syndrome
SMPD1 Niemann-Pick disease, type A
Niemann-Pick disease, type B
TMC1 Deafness, autosomal recessive 7
TMIE Deafness, autosomal recessive 6
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
TTI2 Mental retardation, autosomal recessive 39
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 1027
Number of Genes: 50

Export to: CSV

AC005609.1
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 12ac02301-1_s1 genome 5 . 140242452 75.14 C . PASS 0 19 FRAME_SHIFT HIGH None 0.63079 0.63080 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%

APOBEC3H
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 22 . 39496324 156.54 A . PASS 0 61 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 12ac02301-1_s1 genome 22 . 39496325 162.43 C . PASS 0 62 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 12ac02301-1_s1 genome 22 . 39496323 171.46 A . PASS 0 63 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%

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 12ac02301-1_s1 genome X . 66765160 342.74 C . PASS 0 164 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 12ac02301-1_s1 genome X . 66765159 376.08 G . PASS 0 164 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 12ac02301-1_s1 genome X . 66765161 306.84 A . PASS 0 163 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%

CACNA1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 19 . 13318678 39.02 G . LowGQX 0 5 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 12ac02301-1_s1 genome 19 . 13318677 39.02 T . LowGQX 0 5 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 12ac02301-1_s1 genome 19 . 13318673 39.02 C . LowGQX 0 5 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 12ac02301-1_s1 genome 19 . 13318674 39.02 T . LowGQX 0 5 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 12ac02301-1_s1 genome 19 . 13318675 39.02 G . LowGQX 0 5 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%
View 12ac02301-1_s1 genome 19 . 13318676 42.03 C . LowGQX 0 5 CODON_DELETION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%

CD3EAP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 19 . 45912492 204.54 G . PASS 0 78 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 12ac02301-1_s1 genome 19 . 45912490 213.58 A . PASS 0 78 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 12ac02301-1_s1 genome 19 . 45912491 213.59 A . PASS 0 78 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%

CDSN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 6 . 31084945 225.63 T . PASS 0 89 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.18750 0.18750 0.22354 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 12ac02301-1_s1 genome 6 . 31084943 249.69 C . PASS 0 92 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.18750 0.18750 0.22354 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%
View 12ac02301-1_s1 genome 6 . 31084944 240.66 T . PASS 0 89 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.18750 0.18750 0.22354 None None None None None None PSORS1C1|0.000682448|97.36%,CDSN|0.07799088|55.67%

CEP68
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 2 . 65298649 336.96 C . PASS 0 136 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07408 0.07408 0.11110 None None None None None None CEP68|0.00693315|83.58%,RAB1A|0.906392493|3.32%
View 12ac02301-1_s1 genome 2 . 65298648 321.92 A . PASS 0 135 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07408 0.07408 0.11110 None None None None None None CEP68|0.00693315|83.58%,RAB1A|0.906392493|3.32%
View 12ac02301-1_s1 genome 2 . 65298647 333.97 A . PASS 0 135 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07408 0.07408 0.11110 None None None None None None CEP68|0.00693315|83.58%,RAB1A|0.906392493|3.32%

CHRNA3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 15 . 78913070 84.17 G . PASS 0 29 CODON_DELETION MODERATE None None None None None None None CHRNA3|0.230381335|33.33%
View 12ac02301-1_s1 genome 15 . 78913068 87.18 C . PASS 0 29 CODON_DELETION MODERATE None None None None None None None CHRNA3|0.230381335|33.33%
View 12ac02301-1_s1 genome 15 . 78913069 84.17 A . PASS 0 29 CODON_DELETION MODERATE None None None None None None None CHRNA3|0.230381335|33.33%

CYP3A43
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 7 . 99434078 39.02 A . LowGQX 0 6 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.10543 0.10540 0.10912 None None None None None None CYP3A43|0.206279007|35.98%

CYP4B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 1 . 47280747 201.55 A . PASS 0 83 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%
View 12ac02301-1_s1 genome 1 . 47280748 207.55 T . PASS 0 83 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.13538 0.13540 0.11430 None None None None None None CYP4B1|0.038794091|66.17%

DEFB126
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 20 . 126311 114.27 C . PASS 0 41 FRAME_SHIFT HIGH None 0.43378 None None None None None None None
View 12ac02301-1_s1 genome 20 . 126312 114.24 C . PASS 0 40 FRAME_SHIFT HIGH None 0.43378 None None None None None None None

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 12ac02301-1_s1 genome 16 . 67229798 84.17 A . PASS 0 25 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None E2F4|0.500599501|15.79%
View 12ac02301-1_s1 genome 16 . 67229796 78.15 G . PASS 0 22 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None E2F4|0.500599501|15.79%
View 12ac02301-1_s1 genome 16 . 67229795 75.14 A . PASS 0 22 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None E2F4|0.500599501|15.79%
View 12ac02301-1_s1 genome 16 . 67229799 81.15 G . PASS 0 25 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None E2F4|0.500599501|15.79%
View 12ac02301-1_s1 genome 16 . 67229794 75.14 C . PASS 0 22 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None E2F4|0.500599501|15.79%
View 12ac02301-1_s1 genome 16 . 67229797 81.14 C . PASS 0 25 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None E2F4|0.500599501|15.79%

FIP1L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 4 . 54319249 63.1 G . PASS 0 15 None None None None None None None None None FIP1L1|0.803179019|5.74%
View 12ac02301-1_s1 genome 4 . 54319248 63.1 A . PASS 0 15 None None None None None None None None None FIP1L1|0.803179019|5.74%

FOXD4L5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 9 . 70176769 41.97 G . LowGQX;LowMQ 0 34 FRAME_SHIFT HIGH None 0.31579 None None None None None None FOXD4L5|0.001233365|94.27%

GIMAP8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 7 . 150171619 234.65 A . PASS 0 77 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171620 231.61 C . PASS 0 77 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171621 204.53 C . PASS 0 73 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171622 213.58 G . PASS 0 73 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171623 210.55 G . PASS 0 73 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171624 210.56 G . PASS 0 73 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171625 219.58 C . PASS 0 76 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171629 228.64 A . PASS 0 76 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171606 231.64 A . PASS 0 79 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171607 225.63 G . PASS 0 75 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171608 219.6 T . PASS 0 74 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171609 231.64 G . PASS 0 76 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171610 225.6 C . PASS 0 77 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171611 231.61 C . PASS 0 76 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171612 213.58 T . PASS 0 78 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171613 225.63 T . PASS 0 78 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171614 234.63 C . PASS 0 78 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171615 231.64 A . PASS 0 78 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171616 228.63 A . PASS 0 79 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171617 237.65 C . PASS 0 79 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171618 228.63 T . PASS 0 77 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171626 219.58 A . PASS 0 76 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171627 216.6 A . PASS 0 76 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171628 219.6 C . PASS 0 76 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171605 243.69 T . PASS 0 80 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171630 228.61 G . PASS 0 77 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171631 219.59 G . PASS 0 77 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171632 234.65 A . PASS 0 77 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171633 216.58 G . PASS 0 77 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171634 228.64 A . PASS 0 78 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171600 288.83 A . PASS 0 98 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171601 288.82 G . PASS 0 99 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171602 279.78 A . PASS 0 97 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171603 243.68 T . PASS 0 80 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%
View 12ac02301-1_s1 genome 7 . 150171604 237.66 A . PASS 0 80 FRAME_SHIFT HIGH None 0.00339 0.00340 None None None None None None GIMAP8|0.001557191|92.51%

GSE1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 16 . 85689983 183.46 G . PASS 0 71 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.09804 0.09804 None None None None None None GSE1|0.088433542|53.54%
View 12ac02301-1_s1 genome 16 . 85689984 156.54 A . PASS 0 71 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.09804 0.09804 None None None None None None GSE1|0.088433542|53.54%
View 12ac02301-1_s1 genome 16 . 85689985 189.48 G . PASS 0 71 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.09804 0.09804 None None None None None None GSE1|0.088433542|53.54%
View 12ac02301-1_s1 genome 16 . 85689986 174.46 C . PASS 0 68 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.09804 0.09804 None None None None None None GSE1|0.088433542|53.54%
View 12ac02301-1_s1 genome 16 . 85689987 192.5 G . PASS 0 68 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.09804 0.09804 None None None None None None GSE1|0.088433542|53.54%
View 12ac02301-1_s1 genome 16 . 85689988 171.41 C . PASS 0 62 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.09804 0.09804 None None None None None None GSE1|0.088433542|53.54%

GSTO1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 10 . 106022831 201.55 A . PASS 0 70 None None None 0.04133 0.04133 0.02972 None None None None None None GSTO1|0.107719856|49.64%
View 12ac02301-1_s1 genome 10 . 106022830 195.52 G . PASS 0 70 None None None 0.04133 0.04133 0.02972 None None None None None None GSTO1|0.107719856|49.64%
View 12ac02301-1_s1 genome 10 . 106022832 189.49 G . PASS 0 70 None None None 0.04133 0.04133 0.02972 None None None None None None GSTO1|0.107719856|49.64%

HTR3E
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 12ac02301-1_s1 genome 3 . 183818222 153.53 G . PASS 0 57 FRAME_SHIFT HIGH None 0.03554 0.03554 0.07413 None None None None None None HTR3E|0.006973136|83.53%

HYDIN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 16 . 70896016 51.06 A . LowGQX 0 9 FRAME_SHIFT HIGH None None None None None None None HYDIN|0.080749251|55.02%

IRF5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12ac02301-1_s1 genome 7 . 128587361 99.18 C . PASS 0 29 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587362 93.17 C . PASS 0 25 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587363 90.16 G . PASS 0 25 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587364 66.08 C . PASS 0 17 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587365 72.09 C . PASS 0 17 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587366 63.08 C . PASS 0 15 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587367 54.06 A . LowGQX 0 15 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587368 66.1 C . PASS 0 14 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587369 66.1 T . PASS 0 14 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587370 57.08 C . LowGQX 0 11 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587371 48.05 T . LowGQX 0 9 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587372 54.06 G . LowGQX 0 9 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587373 51.06 C . LowGQX 0 9 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587374 42.03 G . LowGQX 0 8 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 12ac02301-1_s1 genome 7 . 128587376 48.05 C . LowGQX 0 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%