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Genes at Omim

ADAMTS2, ANLN, ASPN, ATXN1, BPTF, CACNA1A, CPS1, DDHD1, EIF2AK3, FOXE1, GREB1L, HOXB1, KRT10, KRT2, KRT4, LHCGR, LOR, MCC, PDE11A, POMC, RTTN, SYNJ1, TENM4, TMIE, TSPYL1, ZNF687,
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BPTF Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (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)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
GREB1L Renal hypodysplasia/aplasia 3, 617805 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
KRT10 Epidermolytic hyperkeratosis, 113800 (3)
Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT4 White sponge nevus 1, 193900 (3)
LHCGR Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)
Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)
Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)
Luteinizing hormone resistance, female, 238320 (3)
Precocious puberty, male, 176410 (3)
LOR Vohwinkel syndrome with ichthyosis, 604117 (3)
MCC Colorectal cancer, somatic, 114500 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
POMC {Obesity, early-onset, susceptibility to}, 601665 (3)
Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SYNJ1 Epileptic encephalopathy, early infantile, 53, 617389 (3)
Parkinson disease 20, early-onset, 615530 (3)
TENM4 Essential tremor, hereditary, 5, 616736 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
ZNF687 Paget disease of bone 6, 616833 (3)

Genes at Clinical Genomics Database

ADAMTS2, ANLN, ATXN1, CACNA1A, CPS1, EIF2AK3, FOXE1, HOXB1, KRT10, KRT2, KRT4, LHCGR, LOR, PDE11A, POMC, RTTN, TENM4, TMIE, TSPYL1, ZNF687,
ADAMTS2 Ehlers-Danlos syndrome, type VII
ANLN Focal segmental glomerulosclerosis 8
ATXN1 Spinocerebellar ataxia 1
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CPS1 Carbamoylphosphate synthetase I deficiency
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
FOXE1 Thyroid cancer, nonmedullary 4
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Congenital hypothyroidism
HOXB1 Facial paresis, hereditary congenital, 3
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
KRT2 Ichthyosis bullosa of Siemens
Ichthyosis exfoliativa
KRT4 White sponge nevus 1
LHCGR Leydig cell hypoplasia type I
Leydig cell hypoplasia type II
Luteinizing hormone resistance, female
Precocious puberty, male
LOR Vohwinkel syndrome, variant form
PDE11A Pigmented nodular adrenocortical disease, primary, 2
POMC Proopiomelanocortin deficiency
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
TENM4 Tremor, hereditary essential, 5
TMIE Deafness, autosomal recessive 6
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome
46, XY disorder of sex development
ZNF687 Paget disease of bone 6

Genes at HGMD

Summary

Number of Variants: 106
Number of Genes: 98

Export to: CSV

AC110771.1

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 4 rs146592367,rs67422809
dbSNP Clinvar
187112347 885.98 C CGTT PASS 1/1 100 CODON_INSERTION MODERATE None None None None None None None None

ADAMTS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 5 rs752142266
dbSNP Clinvar
178772259 779.86 GGCA GG... PASS 0/1 117 CODON_INSERTION MODERATE None 0.22973 None None None None None None ADAMTS2|0.325728261|25.76%

ADAMTS8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs10548872
dbSNP Clinvar
130298117 1186.28 GGCA GG... PASS 0/2 68 CODON_INSERTION MODERATE None 0.07728 0.47700 0.51250 None None None None None None ADAMTS8|0.042125202|65.07%

AFAP1L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs74928179
dbSNP Clinvar
116085784 1365.3 C CCCG PASS 1/1 92 CODON_INSERTION MODERATE None None None None None None None AFAP1L2|0.092781823|52.66%

AK5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 1 rs79671213
dbSNP Clinvar
78024345 3973.66 C CTAT PASS 1/1 75 CODON_INSERTION MODERATE None 0.61961 0.61960 0.35982 None None None None None None AK5|0.166834889|40.71%

ANKRD60

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs564097797
dbSNP Clinvar
56803676 211.66 C CCCG PASS 0/1 12 CODON_INSERTION MODERATE None 0.18331 0.18330 None None None None None None ANKRD60|0.001529196|92.64%

ANLN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs61549495
dbSNP Clinvar
36447349 1558.75 A ACTT PASS 0/1 71 CODON_INSERTION MODERATE None 0.44948 0.44950 0.38393 None None None None None None ANLN|0.180116375|39.04%

ART5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 11 rs3062849
dbSNP Clinvar
3661585 5482.67 A ATGG PASS 1/1 180 CODON_INSERTION MODERATE None 0.96745 0.96750 0.03526 None None None None None None ART5|0.101580058|50.85%

ASPN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs878983183
dbSNP Clinvar
95237024 3443.09 CT... CT... PASS 1/2 77 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ATXN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs797045409
dbSNP Clinvar
16327915 1808.1 ATGC AT... PASS 0/3 75 CODON_INSERTION MODERATE None None None None None None None ATXN1|0.832563526|5.05%

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 rs763704164
dbSNP Clinvar
65494007 5324.71 T TA... PASS 0/1 139 CODON_INSERTION MODERATE None None None None None None None BHLHE22|0.316142463|26.34%

BPTF

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs139709271
dbSNP Clinvar
65955758 683.68 T TC... PASS 0/1 33 CODON_INSERTION MODERATE None None None None None None None BPTF|0.199279409|36.79%

C12orf56

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs113411861
dbSNP Clinvar
64712546 6441.86 A AGTT PASS 0/1 123 CODON_INSERTION MODERATE None 0.43810 0.43810 0.45456 None None None None None None C12orf56|0.034622904|67.57%

C2orf71

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs139768554
dbSNP Clinvar
29287926 837.84 C CGCT PASS 0/1 102 CODON_INSERTION MODERATE None 0.37360 0.37360 0.31822 None None None None None None C2orf71|0.006399925|84.18%

C8orf59

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs112611553
dbSNP Clinvar
86126827 3436.37 C CA... PASS 1/1 70 CODON_INSERTION MODERATE None 0.99720 0.99720 0.00399 None None None None None None E2F5|0.388960651|21.48%,C8orf59|0.106330723|49.9%

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 combined sample_99.variant44 19 rs765169827
dbSNP Clinvar
13318672 1195.33 CC... CC... PASS 0/1 25 CODON_INSERTION MODERATE None None None None None None None CACNA1A|0.210424701|35.52%

CCDC180

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs113264216,rs71369506
dbSNP Clinvar
100092968 659.49 A AG... PASS 0/1 76 CODON_INSERTION MODERATE None 0.59145 0.59150 None None None None None None CCDC180|0.009048134|81.61%

CCDC66

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs112267342
dbSNP Clinvar
56650054 2376.41 T TCTC PASS 0/1 99 CODON_INSERTION MODERATE None 0.58959 None None None None None None CCDC66|0.050930369|62.39%

CDC27

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs375653477
dbSNP Clinvar
45234673 542.74 T TGGC PASS 0/1 49 CODON_INSERTION MODERATE None None None None None None None CDC27|0.658499283|9.78%
View combined sample_99.variant44 17 . 45232085 52.42 T TCTC PASS 0/1 36 CODON_INSERTION MODERATE None None None None None None None CDC27|0.658499283|9.78%

CDK11A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs144636354,rs199866927
dbSNP Clinvar
1647893 6300.47 C CT... PASS 0/1 249 CODON_INSERTION MODERATE None None None None None None None CDK11A|0.02662445|71.07%

CENPV

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs539910742
dbSNP Clinvar
16256686 235.32 G GC... PASS 0/1 9 CODON_INSERTION MODERATE None 0.53375 0.53370 0.27741 None None None None None None CENPV|0.053229738|61.73%

CNDP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs10663835,rs60017744
dbSNP Clinvar
72223591 1528.36 G GT... PASS 0/1 95 CODON_INSERTION MODERATE None None None None None None None CNDP1|0.024865105|71.86%

CPS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs61509952
dbSNP Clinvar
211421452 2426.92 A ATCT PASS 1/1 70 CODON_INSERTION MODERATE None 0.47704 0.47700 0.46149 None None None None None None CPS1|0.827402852|5.16%

DDHD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs140904345,rs55671452
dbSNP Clinvar
53619480 4854.0 T TG... PASS 0/1 119 CODON_INSERTION MODERATE None 0.78534 0.78530 None None None None None None DDHD1|0.165614738|40.86%

DENND4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs3835302
dbSNP Clinvar
153907278 4841.32 CC... C,... PASS 0/1 131 CODON_INSERTION MODERATE None None None None None None None DENND4B|0.160276064|41.5%

EIF2AK3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs72416210
dbSNP Clinvar
88926729 175.73 CCAG C,... PASS 1/1 37 CODON_INSERTION MODERATE None 0.79653 0.79650 None None None None None None EIF2AK3|0.850003581|4.63%

FAM120B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 . 170627695 2906.1 A AC... PASS 0/1 242 CODON_INSERTION MODERATE None None None None None None None FAM120B|0.011045549|80.03%

FAM46A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs771239762
dbSNP Clinvar
82461727 782.37 AC... A,... PASS 0/2 16 CODON_INSERTION MODERATE None None None None None None None FAM46A|0.523803147|14.83%

FAM83G

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs538676818
dbSNP Clinvar
18874685 1453.17 C CGGT PASS 0/1 99 CODON_INSERTION MODERATE None 0.65176 0.65180 0.40464 None None None None None None SLC5A10|0.040169483|65.72%,FAM83G|0.025838834|71.41%

FAM98C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs748459114
dbSNP Clinvar
38899501 1587.99 CAAG CA... PASS 0/1 53 CODON_INSERTION MODERATE None 0.11513 None None None None None None FAM98C|0.016115397|76.41%

FOXD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs3046924,rs71053113
dbSNP Clinvar
47904668 2466.02 T TC... PASS 1/1 59 CODON_INSERTION MODERATE None 0.96446 0.96450 0.09483 None None None None None None FOXD2|0.222136789|34.18%

FOXE1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs755911172
dbSNP Clinvar
100616700 440.75 AG... AG... PASS 0/1 44 CODON_INSERTION MODERATE None None None None None None None FOXE1|0.190679781|37.73%

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 rs377364132
dbSNP Clinvar
29625924 564.99 A ACTT PASS 0/1 246 CODON_INSERTION MODERATE None None None None None None None FRG1B|0.009509512|81.26%

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 rs149459090
dbSNP Clinvar
23686010 785.46 T TCTC PASS 0/1 133 CODON_INSERTION MODERATE None None None None None None None GOLGA6L2|0.000844228|96.42%
View combined sample_99.variant44 15 rs34879341
dbSNP Clinvar
23685004 816.11 G GCAT PASS 1/1 49 CODON_INSERTION MODERATE None None None None None None None GOLGA6L2|0.000844228|96.42%
View combined sample_99.variant44 15 rs773823433
dbSNP Clinvar
23685064 581.16 A AC... PASS 1/1 10 CODON_INSERTION MODERATE None None None None None None None GOLGA6L2|0.000844228|96.42%
View combined sample_99.variant44 15 rs748500078
dbSNP Clinvar
23685922 1142.86 C CC... PASS 0/1 133 CODON_INSERTION MODERATE None None None None None None None GOLGA6L2|0.000844228|96.42%
View combined sample_99.variant44 15 rs765966759
dbSNP Clinvar
23686045 364.11 A AT... PASS 0/1 135 CODON_INSERTION MODERATE None None None None None None None GOLGA6L2|0.000844228|96.42%

GPRIN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs112620425
dbSNP Clinvar
46999591 1634.41 C CA... PASS 0/1 401 CODON_INSERTION MODERATE None 0.47903 0.47900 0.49369 None None None None None None GPRIN2|0.008107767|82.54%

GREB1L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs34960489,rs10654340
dbSNP Clinvar
19100758 3957.64 A ATCT PASS 1/1 53 CODON_INSERTION MODERATE None 0.99541 0.99540 0.00367 None None None None None None GREB1L|0.672050705|9.33%

GRIN2C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs139495021,rs56348130
dbSNP Clinvar
72839130 1847.01 A AG... PASS 1/1 60 CODON_INSERTION MODERATE None 0.00060 0.79630 0.16903 None None None None None None GRIN2C|0.081131764|54.96%

GSPT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs749531224
dbSNP Clinvar
12009530 1983.6 CC... CC... PASS 1/4 71 CODON_INSERTION MODERATE None 0.24168 None None None None None None GSPT1|0.477722435|16.86%

HDAC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs777539281
dbSNP Clinvar
114292109 4789.74 CCTG CC... PASS 0/1 293 CODON_INSERTION MODERATE None None None None None None None HDAC2|0.998000079|0.56%

HEG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs557156973
dbSNP Clinvar
124774665 540.47 G GCAT PASS 0/1 24 CODON_INSERTION MODERATE None 0.08906 0.08906 0.16810 None None None None None None HEG1|0.04030264|65.66%

HOXB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs534792734,rs145570960
dbSNP Clinvar
46608184 4520.42 G GG... PASS 0/1 175 CODON_INSERTION MODERATE None 0.13319 0.13320 0.17690 None None None None None None HOXB1|0.48868105|16.37%

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 rs66501117
dbSNP Clinvar
49657710 1126.21 ACAT A,... PASS 0/1 58 CODON_INSERTION MODERATE None 0.05811 0.36000 None None None None None None HRC|0.0162712|76.28%

HSPBP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs3040014
dbSNP Clinvar
55790886 4749.11 A AG... PASS 1/1 85 CODON_INSERTION MODERATE None None None None None None None HSPBP1|0.08555301|54.04%

KCNN3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 . 154842199 2072.81 GG... GG... PASS 1/4 48 CODON_INSERTION MODERATE None None None None None None None KCNN3|0.329640894|25.51%

KIAA2018

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs749467269
dbSNP Clinvar
113376110 2390.91 TT... TT... PASS 2/3 84 CODON_INSERTION MODERATE None None None None None None None KIAA2018|0.1345024|45.17%

KRT10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs776920005
dbSNP Clinvar
38975103 1301.89 A AG... PASS 0/1 177 CODON_INSERTION MODERATE None None None None None None None KRT10|0.085711046|54%

KRT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs769166546
dbSNP Clinvar
53045623 1149.8 A AGCC PASS 0/1 39 CODON_INSERTION MODERATE None None None None None None None KRT2|0.020804285|73.78%

KRT4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs11267392
dbSNP Clinvar
53207583 3194.68 C CC... PASS 0/1 77 CODON_INSERTION MODERATE None 0.00080 0.87900 None None None None None None KRT4|0.094749162|52.19%

KRTAP4-5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs535144703,rs878860917,rs58117746
dbSNP Clinvar
39305775 2935.58 T TG... PASS 1/1 248 CODON_INSERTION MODERATE None 0.42312 0.42310 None None None None None None KRTAP4-5|0.004149252|86.8%

KRTAP5-5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs748171191,rs71025763
dbSNP Clinvar
1651199 178.71 A AG... PASS 0/1 54 CODON_INSERTION MODERATE None None None None None None None KRTAP5-5|0.016124954|76.4%

KRTAP9-1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_99.variant44 17 . 39346595 2090.86 T TG... PASS 1/1 116 CODON_INSERTION MODERATE None 0.90715 None None None None None None KRTAP9-1|0.001839367|91.43%

LHCGR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs376653903
dbSNP Clinvar
48982755 1975.13 G GG... PASS 0/1 70 CODON_INSERTION MODERATE None 0.14457 0.14460 0.19675 None None None None None None STON1-GTF2A1L|0.070736992|57.3%,LHCGR|0.657366853|9.81%

LOR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs561634896,rs11272549
dbSNP Clinvar
153233991 862.95 A AC... PASS 0/1 59 CODON_INSERTION MODERATE None 0.64836 0.64840 0.40271 None None None None None None LOR|0.059509519|60.04%

LURAP1L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs139315731,rs3833707
dbSNP Clinvar
12775861 5037.29 T TG... PASS 1/1 116 CODON_INSERTION MODERATE None None None None None None None LURAP1L|0.198109841|36.91%

MAGI1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs142043619,rs773463513
dbSNP Clinvar
65425560 887.64 T TCTG PASS 0/1 53 CODON_INSERTION MODERATE None 0.00340 None None None None None None MAGI1|0.767705528|6.67%

MBD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs756585233
dbSNP Clinvar
51750584 690.56 T TGCC PASS 0/1 14 CODON_INSERTION MODERATE None None None None None None None MBD2|0.108592887|49.43%

MCC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 5 rs531679771,rs35336557
dbSNP Clinvar
112824048 2248.11 T TGCC PASS 1/1 172 CODON_INSERTION MODERATE None 0.33207 0.33210 None None None None None None MCC|0.469013944|17.21%

MED15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs780625319,rs878910304,rs539945336,rs361923
dbSNP Clinvar
20920813 1380.31 A AC... PASS 0/1 61 CODON_INSERTION MODERATE None 0.14460 None None None None None None MED15|0.346152585|24.41%

MUC12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs150485202
dbSNP Clinvar
100612955 613.19 A ACTG PASS 0/1 127 CODON_INSERTION MODERATE None 0.22312 None None None None None None MUC12|0.000890812|96.07%

MUC13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs10630030,rs397759224
dbSNP Clinvar
124646705 7170.94 A AAAG PASS 1/1 122 CODON_INSERTION MODERATE None 0.98602 0.98600 0.01334 None None None None None None MUC13|0.000146036|99.87%

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 rs112753297,rs374444410
dbSNP Clinvar
100551637 6512.0 C CCAA PASS 0/1 410 CODON_INSERTION MODERATE None 0.39046 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 . 195507242 3026.37 C CT... PASS 0/1 803 CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%
View combined sample_99.variant44 3 . 195513398 11904.8 C CG... PASS 0/1 431 CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%
View combined sample_99.variant44 3 . 195510767 4375.0 G GA... PASS 0/1 75 CODON_INSERTION MODERATE None None None None None None None MUC4|0.005441696|85.29%

NADK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs150880809,rs71578334,rs765479702
dbSNP Clinvar
1684347 3716.21 C CCCT PASS 1/1 193 CODON_INSERTION MODERATE None None None None None None None NADK|0.029857865|69.48%

NCOR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs35831183,rs879061669
dbSNP Clinvar
124887058 520.97 G GG... PASS 0/1 47 CODON_INSERTION MODERATE None 0.09205 0.30650 None None None None None None NCOR2|0.460506037|17.66%
View combined sample_99.variant44 12 rs143952466
dbSNP Clinvar
124824721 9151.22 C CG... PASS 1/1 150 CODON_INSERTION MODERATE None 0.95088 0.95090 None None None None None None NCOR2|0.460506037|17.66%

NOX4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs34495256,rs398115612
dbSNP Clinvar
89224131 2284.39 T TCTC PASS 0/1 55 CODON_INSERTION MODERATE None 0.42073 0.42070 None None None None None None NOX4|0.381098798|21.97%

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 rs34296657,rs57821899
dbSNP Clinvar
50881822 3341.29 A ACAG PASS 0/1 300 CODON_INSERTION MODERATE None 0.39677 0.39680 None None None None None None NR1H2|0.484472054|16.53%

OTUD7A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs199744400
dbSNP Clinvar
31776210 6640.03 TGGC T,... PASS 1/1 175 CODON_INSERTION MODERATE None 0.77137 0.77140 0.32143 None None None None None None OTUD7A|0.076054445|56.07%

PDE11A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs3830637,rs397723704
dbSNP Clinvar
178494173 2557.68 G GGGA PASS 1/1 63 CODON_INSERTION MODERATE None 0.58766 0.58770 0.40711 None None None None None None PDE11A|0.740114937|7.36%

PODXL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs11277659,rs532078953
dbSNP Clinvar
131241029 3379.89 GG... GG... PASS 0/2 150 CODON_INSERTION MODERATE None 0.31330 None None None None None None PODXL|0.000589481|97.98%

POMC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs10654394
dbSNP Clinvar
25384456 4106.81 C CG... PASS 0/1 201 CODON_INSERTION MODERATE None 0.07708 0.07708 0.10136 None None None None None None POMC|0.988394657|1.14%

POU4F1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs762014663
dbSNP Clinvar
79176483 1489.69 CTGG CT... PASS 0/2 173 CODON_INSERTION MODERATE None None None None None None None POU4F1|0.327802019|25.63%

PRDM2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs2308040,rs59028030
dbSNP Clinvar
14106394 1862.76 A ACTC PASS 0/1 111 CODON_INSERTION MODERATE None 0.46980 None None None None None None PRDM2|0.168607975|40.49%

PRUNE2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs11267622
dbSNP Clinvar
79324135 2041.95 A AT... PASS 0/1 101 CODON_INSERTION MODERATE None 0.50320 0.50320 0.47869 None None None None None None PRUNE2|0.26380863|30.4%

PVRL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs137909701,rs753988307
dbSNP Clinvar
119535677 2456.06 C CCCT PASS 0/1 134 CODON_INSERTION MODERATE None None None None None None None PVRL1|0.677603369|9.15%

RALY

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs10649600
dbSNP Clinvar
32664864 1543.89 C CCAG PASS 0/1 103 CODON_INSERTION MODERATE None None None None None None None RALY|0.302394222|27.46%

RBM23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs61680322,rs397812315
dbSNP Clinvar
23371255 2708.61 G GGGC PASS 0/1 144 CODON_INSERTION MODERATE None 0.52240 None None None None None None RBM23|0.17375413|39.82%

RBMXL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs782097222,rs55659078
dbSNP Clinvar
114425181 3099.16 A AG... PASS 1/1 142 CODON_INSERTION MODERATE None 0.00053 0.91890 0.09940 None None None None None None LRCH2|0.349596138|24.16%,RBMXL3|0.001057182|95.12%

RPL14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 . 40503520 1210.71 ACTG AC... PASS 3/1 100 CODON_INSERTION MODERATE None None None None None None None RPL14|0.064797243|58.69%

RTTN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs74941514
dbSNP Clinvar
67863850 3796.02 T TCTC PASS 1/1 70 CODON_INSERTION MODERATE None 0.95268 0.95270 0.04596 None None None None None None RTTN|0.045017499|64.2%

SAAL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs148650821,rs74589784
dbSNP Clinvar
18127558 3401.17 C CCGG PASS 0/1 242 CODON_INSERTION MODERATE None 0.14657 0.14660 None None None None None None SAAL1|0.43722296|18.83%

SCAF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs565149093
dbSNP Clinvar
50155361 762.72 GC... GC... PASS 0/1 12 CODON_INSERTION MODERATE None 0.00120 0.00120 None None None None None None SCAF1|0.031761925|68.71%

SERINC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs3050461,rs5773362
dbSNP Clinvar
31905889 6543.73 A ACAG PASS 1/1 171 CODON_INSERTION MODERATE None 0.73902 0.73900 None None None None None None SERINC2|0.042418006|64.98%

SGK223

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs150979349,rs59372311
dbSNP Clinvar
8234868 3843.69 C CG... PASS 0/1 243 CODON_INSERTION MODERATE None 0.59505 0.59500 None None None None None None None

SKIDA1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs112207161,rs754441279
dbSNP Clinvar
21805466 1900.68 C CC... PASS 1/1 71 CODON_INSERTION MODERATE None 0.54074 0.54070 0.37238 None None None None None None SKIDA1|0.439515262|18.69%

SYNJ1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs71640263
dbSNP Clinvar
34003928 5632.95 A AA... PASS 1/1 117 CODON_INSERTION MODERATE None 0.57109 0.57110 0.43913 None None None None None None SYNJ1|0.15926278|41.69%

TENM4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs530560272
dbSNP Clinvar
78614514 2111.36 A AGCG PASS 0/1 108 CODON_INSERTION MODERATE None 0.00080 0.00080 0.00107 None None None None None None TENM4|0.71881467|8%

THSD7A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs536177295
dbSNP Clinvar
11871469 466.27 AG... AG... PASS 0/1 24 CODON_INSERTION MODERATE None 0.03834 0.03834 0.02973 None None None None None None THSD7A|0.279550197|29.12%

TMEM184A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs112463195,rs200315697
dbSNP Clinvar
1586653 1738.0 A AGCC PASS 1/1 82 CODON_INSERTION MODERATE None None None None None None None TMEM184A|0.023863056|72.28%

TMEM52

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs575852588
dbSNP Clinvar
1850627 356.51 CA... C,... PASS 1/1 37 CODON_INSERTION MODERATE None 0.35903 0.35900 0.28098 None None None None None None TMEM52|0.00312833|88.44%

TMIE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs10578999,rs397817178
dbSNP Clinvar
46751073 1086.91 TAAG T,... PASS 1/1 131 CODON_INSERTION MODERATE None 0.75320 None None None None None None TMIE|0.142194222|44.12%

TRBV5-4

Omim - GeneCards - NCBI
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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 7 rs750253795
dbSNP Clinvar
142168502 2001.1 T TTTC PASS 0/1 277 CODON_INSERTION MODERATE None None None None None None None None

TRBV6-7

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 7 rs746590828
dbSNP Clinvar
142143703 429.7 T TC... PASS 0/1 269 CODON_INSERTION MODERATE None None None None None None None None