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Genes:
ABL1, AC062017.1, AGAP2, AGFG2, AJAP1, AMMECR1, AMOT, ANKRD65, APBB1, APOBR, ARHGAP24, ARID3A, ARID4B, ARIH1, ATAD2, ATRX, AUTS2, BEND4, BHLHB9, BMP2K, BPTF, BTF3, C16orf71, C17orf51, C17orf74, C19orf26, C22orf43, C3AR1, C9orf43, CACNA1A, CACNA1D, CADM1, CASQ2, CCNK, CD2BP2, CD3EAP, CD99L2, CDH23, CDIPT, CDK7, CELF1, CELF3, CEP72, CETN2, CHD2, CHD4, CHERP, CHGA, CLEC17A, CLEC4M, CLSTN2, CMYA5, CNKSR2, CNPY3, COL6A3, CRB2, CTDP1, CUL4B, CXXC4, DAXX, DBR1, DCP1B, DDX24, DDX27, DDX54, DEK, DHX34, DHX36, DIAPH1, DKC1, DLX2, DLX6, DMKN, DMRTB1, DNAH3, E2F4, EDC4, EFCAB4B, EGR1, EIF3C, EIF4G1, ELMSAN1, EML3, EMX2, EPB41L2, ERCC3, ERN1, FAM155A, FAU, FBXW4, FFAR2, FGFR1, FKBP11, FLG, FMN2, FNDC1, FNIP2, FOXC1, FOXG1, FOXP2, FREM2, FRG1, FRG1B, FRMD4A, FRMPD3, FUS, GAL3ST2, GAS2L2, GIGYF1, GIGYF2, GNL2, GOLGA6B, GPALPP1, GPR37L1, GPR50, GSAP, GSX1, GTF3C2, GTF3C3, HAVCR2, HIRA, HKDC1, HMGB3, HOXA1, HOXB6, HRCT1, HSP90AA1, HUWE1, HYDIN, IGKJ2, IL4R, INA, INTS5, IPO9, IRS1, IRX6, JAM2, JMY, KBTBD12, KBTBD6, KCNA4, KIAA0430, KIAA1045, KIAA1462, KIAA1549L, KIAA2018, KIF3B, KMT2D, KRT10, KRTAP5-3, KRTAP5-5, LMX1A, LRCH1, LRRC43, LRRC49, LRRC59, LRRC73, LYPD3, LZTS2, MAGEA1, MAML2, MAMLD1, MDN1, MED12, MED15, MEF2A, MEGF10, MEOX2, MEPCE, MESDC2, MGA, MICALL1, MLC1, MLLT3, MLLT4, MMP17, MN1, MTMR10, MTMR3, MTRF1L, MUC4, MYCBP2, MYOCD, MYT1L, MZT1, NADK, NANOS3, NAP1L2, NAP1L3, NAP1L5, NAPSA, NCAN, NEDD4L, NFAT5, NISCH, NKX6-2, NLGN2, NLRP6, NMU, NOM1, NOX5, NPHP1, NPIPB5, NPNT, NT5C1B, NUMBL, OBSCN, OLIG3, ONECUT2, OR10A2, OSGIN1, OTX1, PAK1, PAM, PAXIP1, PCLO, PCSK9, PHC1, PHC3, PHOX2B, PIEZO1, PIK3AP1, PKHD1L1, PLCD3, POLL, POLQ, POLR3GL, POU6F2, PPM1G, PPP1R10, PPP1R18, PRKCSH, PRR11, PUM2, PURA, PVRL4, R3HDM2, RABL6, RANBP10, RANBP2, RASIP1, RBM10, RBM4, RBMXL3, REN, RIOK1, ROBO3, RP11-1055B8.7, RSBN1L, RSPH6A, RYR3, SAAL1, SCAF1, SCFD1, SENP6, SETD1A, SETD1B, SFTPC, SH3PXD2A, SHROOM4, SIGLEC7, SIGLEC9, SLC22A1, SLC24A1, SLC34A1, SLC7A9, SLC8A2, SMDT1, SMYD5, SNRNP70, SOCS7, SOX11, SOX13, SPAG17, SPRED3, SREBF2, SRPX, SRRM2, SRRM3, SSTR3, ST6GALNAC5, SUPT6H, SUSD4, SV2A, TBL1X, TCEB3B, TCERG1, TCF20, TEP1, TERF1, THAP11, TMC4, TMCC1, TNFAIP2, TNRC6C, TNS1, TPCN1, TRBV6-7, TSC22D1, TSHZ2, UBXN11, UNC13A, URI1, UTP3, VGF, VSIG10, WASF2, WDR87, WDR88, WFIKKN2, WIPF1, WNT6, WSCD1, YBX3, YEATS2, YTHDC1, YTHDF1, ZBTB33, ZBTB40, ZC3H3, ZCCHC3, ZEB1, ZIC2, ZMYND8, ZNF185, ZNF428, ZNF436, ZNF551, ZNF853, ZNHIT3, ZSWIM6,

Genes at Omim

ABL1, AMMECR1, ATRX, BPTF, CACNA1A, CACNA1D, CASQ2, CCNK, CDH23, CHD2, CHD4, CLEC4M, CNKSR2, CNPY3, COL6A3, CRB2, CTDP1, CUL4B, DEK, DIAPH1, DKC1, EIF4G1, EMX2, ERCC3, FGFR1, FLG, FMN2, FOXC1, FOXG1, FOXP2, FREM2, FRMD4A, FUS, GIGYF2, HMGB3, HOXA1, HUWE1, HYDIN, IL4R, IRS1, KCNA4, KMT2D, KRT10, MAML2, MAMLD1, MED12, MEF2A, MEGF10, MLC1, MN1, MYT1L, NEDD4L, NKX6-2, NPHP1, PAK1, PCLO, PCSK9, PHC1, PHOX2B, PIEZO1, POU6F2, PRKCSH, PURA, RANBP2, RBM10, REN, ROBO3, SFTPC, SHROOM4, SLC24A1, SLC34A1, SLC7A9, SOX11, WIPF1, ZEB1, ZIC2, ZNHIT3, ZSWIM6,
ABL1 Congenital heart defects and skeletal malformations syndrome, 617602 (3)
Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
AMMECR1 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3)
ATRX Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3)
Alpha-thalassemia/mental retardation syndrome, 301040 (3)
Mental retardation-hypotonic facies syndrome, X-linked, 309580 (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)
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)
Sinoatrial node dysfunction and deafness, 614896 (3)
CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
CCNK ?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CHD2 Epileptic encephalopathy, childhood-onset, 615369 (3)
CHD4 Sifrim-Hitz-Weiss syndrome, 617159 (3)
CLEC4M SARS infection, protection against (2)
CNKSR2 Mental retardation, X-linked, syndromic, Houge type, 301008 (3)
CNPY3 Epileptic encephalopathy, early infantile, 60, 617929 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
CUL4B Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
DEK Leukemia, acute nonlymphocytic (2)
DIAPH1 Deafness, autosomal dominant 1, 124900 (3)
Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
DKC1 Dyskeratosis congenita, X-linked, 305000 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
EMX2 Schizencephaly, 269160 (3)
ERCC3 Trichothiodystrophy 2, photosensitive, 616390 (3)
Xeroderma pigmentosum, group B, 610651 (3)
FGFR1 Hartsfield syndrome, 615465 (3)
Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3)
Encephalocraniocutaneous lipomatosis, 613001 (3)
Jackson-Weiss syndrome, 123150 (3)
Osteoglophonic dysplasia, 166250 (3)
Pfeiffer syndrome, 101600 (3)
Trigonocephaly 1, 190440 (3)
FLG Ichthyosis vulgaris, 146700 (3)
{Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
FOXC1 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)
Axenfeld-Rieger syndrome, type 3, 602482 (3)
FOXG1 Rett syndrome, congenital variant, 613454 (3)
FOXP2 Speech-language disorder-1, 602081 (3)
FREM2 Fraser syndrome 2, 617666 (3)
FRMD4A ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
FUS Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)
Essential tremor, hereditary, 4, 614782 (3)
GIGYF2 {Parkinson disease 11}, 607688 (3)
HMGB3 ?Microphthalmia, syndromic 13, 300915 (3)
HOXA1 Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Bosley-Salih-Alorainy syndrome, 601536 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IL4R {AIDS, slow progression to}, 609423 (3)
{Atopy, susceptibility to}, 147050 (3)
IRS1 {Coronary artery disease, susceptibility to} (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KCNA4 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3)
KMT2D Kabuki syndrome 1, 147920 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
MAML2 Mucoepidermoid salivary gland carcinoma (3)
MAMLD1 Hypospadias 2, X-linked, 300758 (3)
MED12 Lujan-Fryns syndrome, 309520 (3)
Ohdo syndrome, X-linked, 300895 (3)
Opitz-Kaveggia syndrome, 305450 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
MN1 Meningioma, 607174 (3)
MYT1L Mental retardation, autosomal dominant 39, 616521 (3)
NEDD4L Periventricular nodular heterotopia 7, 617201 (3)
NKX6-2 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
NPHP1 Joubert syndrome 4, 609583 (3)
Nephronophthisis 1, juvenile, 256100 (3)
Senior-Loken syndrome-1, 266900 (3)
PAK1 Intellectual developmental disorder with macrocephaly, seizures, and speech delay, 618158 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PHC1 ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
PHOX2B Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
{Neuroblastoma, susceptibility to, 2}, 613013 (3)
Neuroblastoma with Hirschsprung disease, 613013 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
POU6F2 {Wilms tumor susceptibility-5}, 601583 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PURA Mental retardation, autosomal dominant 31, 616158 (3)
RANBP2 {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3)
RBM10 TARP syndrome, 311900 (3)
REN Hyperuricemic nephropathy, familial juvenile 2, 613092 (3)
Renal tubular dysgenesis, 267430 (3)
[Hyperproreninemia] (3)
ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
SFTPC Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC24A1 Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)
SLC34A1 Hypercalcemia, infantile, 2, 616963 (3)
?Fanconi renotubular syndrome 2, 613388 (3)
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)
SLC7A9 Cystinuria, 220100 (3)
SOX11 Mental retardation, autosomal dominant 27, 615866 (3)
WIPF1 ?Wiskott-Aldrich syndrome 2, 614493 (3)
ZEB1 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
Corneal dystrophy, posterior polymorphous, 3, 609141 (3)
ZIC2 Holoprosencephaly 5, 609637 (3)
ZNHIT3 PEHO syndrome, 260565 (3)
ZSWIM6 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3)
Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ATRX, AUTS2, CACNA1A, CACNA1D, CASQ2, CDH23, CHD2, CHD4, COL6A3, CRB2, CTDP1, CUL4B, DIAPH1, DKC1, EIF4G1, EMX2, ERCC3, FGFR1, FLG, FMN2, FOXC1, FOXG1, FOXP2, FREM2, FRMD4A, FUS, GIGYF2, HMGB3, HOXA1, HUWE1, KMT2D, KRT10, MAMLD1, MED12, MEGF10, MLC1, MN1, MYT1L, NPHP1, PCSK9, PHC1, PHOX2B, PIEZO1, POU6F2, PRKCSH, PURA, RANBP2, RBM10, REN, ROBO3, SFTPC, SHROOM4, SLC24A1, SLC34A1, SLC7A9, SOX11, WIPF1, ZEB1, ZIC2, ZSWIM6,
ATRX Mental retardation-hypotonic facies syndrome, X-linked
Juberg-Marsidi syndrome
Carpenter-Waziri syndrome
Holmes-Gang syndrome
Smith-Fineman-Myers syndrome
Alpha-thalassemia/mental retardation syndrome
AUTS2 Mental retardation, autosomal dominant 26
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities
Sinoatrial node dysfunction and deafness
CASQ2 Ventricular tachycardia, catecholaminergic, polymorphic, 2
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CHD2 Epileptic encephalopathy, childhood-onset
CHD4 Schizophrenia
COL6A3 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
Dystonia 27
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy
CUL4B Mental retardation, X-linked, syndromic 15 (Cabezas type)
DIAPH1 Deafness, autosomal dominant 1
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
EIF4G1 Parkinson disease 18
Macular dystrophy with central cone involvement
EMX2 Schizencephaly
ERCC3 Xeroderma pigmentosum, complementation group B
Trichothiodystrophy 2, photosensitive
FGFR1 Hypogonadotropic hypogonadism 2 with or without anosmia
Trigonocephaly 1
Jackson-Weiss syndrome
Pfeiffer syndrome
FLG Icthyosis vulgaris
FMN2 Mental retardation, autosomal recessive, 47
FOXC1 Peters anomaly
Axenfeld-Rieger syndrome, type 3
Iridogoiodysgenesis, type 1
FOXG1 Rett syndrome, congenital variant
FOXP2 Speech-language disorder 1
FREM2 Fraser syndrome
FRMD4A Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
FUS Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
Essential tremor
GIGYF2 Parkinson disease, autosomal dominant, 11
HMGB3 Microphthalmia, syndromic 13
HOXA1 Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
HUWE1 Mental retardation, X-linked syndromic, Turner type
KMT2D Kabuki syndrome 1
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
MAMLD1 Hypospadias 2, X-linked
MED12 Lujan-Fryns syndrome
Opitz-Kaveggia syndrome
Mental retardation, X-linked, with Marfanoid habitus
FG syndrome
Ohdo syndrome
MEGF10 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts
MN1 Meningioma, familial
MYT1L Mental retardation, autosomal dominant 39
NPHP1 Joubert syndrome 4
Senior-Loken syndrome 1
Nephronophthisis 1
PCSK9 Hypercholesterolemia, familial, 3
PHC1 Primary microcephaly 11
PHOX2B Central hypoventilation syndrome, congenital
Neuroblastoma with Hirschsprung disease
Neuroblastoma, susceptiblity to, 2
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
POU6F2 Wilms tumor 5
PRKCSH Polycystic liver disease
PURA Mental retardation, autosomal dominant 31
RANBP2 Encephalopathy, acute, infection-induced, 3, susceptibility to
RBM10 TARP syndrome
REN Hyperuricemic nephropathy, familial juvenile 2
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
SFTPC Surfactant metabolism dysfunction, pulmonary, 2
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC24A1 Night blindness, congenital stationary, type 1D
SLC34A1 Fanconi renotubular syndrome 2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC7A9 Cystinuria
SOX11 Mental retardation, autosomal dominant 27
WIPF1 Wiskott-Aldrich syndrome 2
ZEB1 Corneal dystrophy, Fuchs endothelial 6
Corneal dystrophy, posterior polymorphous, 3
ZIC2 Holoprosencephaly 5
ZSWIM6 Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 364
Number of Genes: 331

Export to: CSV

ABL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 9 rs201725154
dbSNP Clinvar
133759489 0.0 CAAG C alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ABL1|0.915754224|3.1%

AC062017.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 2 . 240323650 0.0 GT... G clustered_events 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None None

AGAP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 12 rs758614360
dbSNP Clinvar
58131299 0.0 CCGG C str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AGAP2|0.196777896|37.07%

AGFG2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 7 . 100151057 0.0 GCCC G clustered_events;homologous_mapping_event;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AGFG2|0.11533807|48.22%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 7 . 100151064 0.0 CGGA C clustered_events;homologous_mapping_event;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AGFG2|0.11533807|48.22%

AJAP1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs760624677
dbSNP Clinvar
4772582 0.0 GCCA G alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AJAP1|0.079694333|55.25%

AMMECR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR X rs763207969
dbSNP Clinvar
109561057 0.0 CCCG C str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.02298 None None None None None None AMMECR1|0.71228947|8.2%

AMOT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR X . 112022566 0.0 ACAG A str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AMOT|0.349674275|24.15%
View 8754_onol_s2_vs_onol_n_ucla TUMOR X rs749110842
dbSNP Clinvar
112022476 0.0 ACAG A str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.02456 None None None None None None AMOT|0.349674275|24.15%
View 8754_onol_s2_vs_onol_n_ucla TUMOR X rs752438261
dbSNP Clinvar
112058838 0.0 TTGC T alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AMOT|0.349674275|24.15%

ANKRD65

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 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs540396555
dbSNP Clinvar
1356341 0.0 TTCC T str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00698 None None None None None None ANKRD65|0.002156975|90.57%

APBB1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 11 rs767022188
dbSNP Clinvar
6432089 0.0 ATCC A str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None APBB1|0.877017638|4.04%

APOBR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs752999394
dbSNP Clinvar
28506894 0.0 CAGG C clustered_events;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CLN3|0.080923796|55%,APOBR|0.000791084|96.71%

ARHGAP24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 4 . 86916714 0.0 ACAG A clustered_events;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ARHGAP24|0.256470392|31.01%

ARID3A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs745547598
dbSNP Clinvar
932466 0.0 TGAG T alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ARID3A|0.039022569|66.1%

ARID4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs577765532
dbSNP Clinvar
235377266 0.0 CTCT C clustered_events;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00060 0.00060 None None None None None None ARID4B|0.332554915|25.29%

ARIH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 15 rs143905502
dbSNP Clinvar
72767052 0.0 CGAG C str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.02654 None None None None None None ARIH1|0.532256681|14.49%

ATAD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 8 rs539981908
dbSNP Clinvar
124382185 0.0 GTCA G str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATAD2|0.385074539|21.71%

ATRX

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR X rs398123423,rs587780286
dbSNP Clinvar
76907781 0.0 TTCC T str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00363 None None None None None None ATRX|0.768191445|6.65%

AUTS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 7 rs746800065
dbSNP Clinvar
70255576 0.0 GCCA G alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AUTS2|0.998368801|0.51%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 7 . 70228245 0.0 GTGC G t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AUTS2|0.998368801|0.51%

BEND4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 4 rs762489335
dbSNP Clinvar
42145545 0.0 GTCC G str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00488 None None None None None None BEND4|0.318395654|26.21%

BHLHB9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR X rs769450022
dbSNP Clinvar
102004418 0.0 TGAG T alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None BHLHB9|0.028265126|70.32%

BMP2K

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 4 rs767401459,rs755543999
dbSNP Clinvar
79792136 0.0 ACAG A alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None BMP2K|0.123580091|46.87%

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 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs554343942
dbSNP Clinvar
65822380 0.0 AGAC A alt_allele_in_normal;clustered_events;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00619 None None None None None None BPTF|0.199279409|36.79%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs751039972
dbSNP Clinvar
65822266 0.0 CGAG C alt_allele_in_normal;clustered_events;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.02916 None None None None None None BPTF|0.199279409|36.79%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs773299098
dbSNP Clinvar
65822233 0.0 CGAG C clustered_events;multi_event_alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.03760 None None None None None None BPTF|0.199279409|36.79%

BTF3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 5 rs748057618
dbSNP Clinvar
72800206 0.0 GGAT G str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None BTF3|0.517722757|15.07%

C16orf71

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs763869305
dbSNP Clinvar
4796952 0.0 TGAG T alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07217 None None None None None None C16orf71|0.001288696|93.97%

C17orf51

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs148239624
dbSNP Clinvar
21454387 0.0 CA... C PASS 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.02177 0.02177 0.01826 None None None None None None C17orf51|0.001022302|95.29%

C17orf74

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs763551080
dbSNP Clinvar
7329685 0.0 TCGC T str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None C17orf74|0.006445905|84.13%

C19orf26

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs778148754
dbSNP Clinvar
1236046 0.0 AGTG A str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None C19orf26|0.024523264|72.02%

C22orf43

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 22 rs567906771
dbSNP Clinvar
23959766 0.0 GCAT G str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00080 0.00080 0.01125 None None None None None None DRICH1|0.000706827|97.22%

C3AR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 12 . 8211631 0.0 GCCA G str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None C3AR1|0.039131898|66.05%

C9orf43

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 9 rs371732185
dbSNP Clinvar
116187645 0.0 GGCA G alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.08696 None None None None None None C9orf43|0.002847419|88.94%

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 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs759331923
dbSNP Clinvar
13319693 0.0 ATGG A alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07442 None None None None None None CACNA1A|0.210424701|35.52%

CACNA1D

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 3 rs754722878
dbSNP Clinvar
53529192 0.0 GGAT G str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CACNA1D|0.678487804|9.14%

CADM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 11 rs747352768
dbSNP Clinvar
115080311 0.0 ATGG A alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CADM1|0.998253691|0.53%

CASQ2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs397516641,rs786205272
dbSNP Clinvar
116243874 0.0 ATCG A t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00140 0.00140 None None None None None None CASQ2|0.441097582|18.61%

CCNK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 14 rs764363364
dbSNP Clinvar
99969243 0.0 CCAG C str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CCNK|0.48240794|16.64%

CD2BP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs773774768
dbSNP Clinvar
30365549 0.0 CCAT C str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD2BP2|0.197590996|36.98%

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 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs35729377,rs374686338
dbSNP Clinvar
45912489 0.0 CAAG C alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%

CD99L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR X rs781798265
dbSNP Clinvar
149984523 0.0 TGTG T str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD99L2|0.00823782|82.42%

CDH23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 10 . 73565641 0.0 AGCT A clustered_events 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CDH23|0.499757104|15.83%

CDIPT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 16 . 29871950 0.0 CA... C clustered_events;homologous_mapping_event 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CDIPT|0.681605033|9.03%

CDK7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 5 . 68565044 0.0 TG... T alt_allele_in_normal;clustered_events;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CDK7|0.617330297|11.18%

CELF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 11 . 47496958 0.0 CGCA C str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CELF1|0.878319382|4%

CELF3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs777856157
dbSNP Clinvar
151678722 0.0 TTGC T alt_allele_in_normal;clustered_events;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.08500 None None None None None None CELF3|0.293527534|28.15%

CEP72

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 5 rs141221365
dbSNP Clinvar
640648 0.0 GAGC G str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.02764 None None None None None None CEP72|0.006647438|83.89%

CETN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR X . 151997159 0.0 TTCA T str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CETN2|0.395050068|21.07%

CHD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 15 . 93482886 0.0 GGAT G str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CHD2|0.402314815|20.62%

CHD4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 12 rs768750510,rs71584865
dbSNP Clinvar
6711144 0.0 ATCC A str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CHD4|0.655772163|9.88%

CHERP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs762824932
dbSNP Clinvar
16640580 0.0 TTGC T alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CHERP|0.091471608|52.95%

CHGA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 14 rs751728985
dbSNP Clinvar
93398987 0.0 CAGG C alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.01739 None None None None None None CHGA|0.117443288|47.87%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 14 rs145227561
dbSNP Clinvar
93397758 0.0 AGAG A str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CHGA|0.117443288|47.87%

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 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs770275009
dbSNP Clinvar
14694175 0.0 TGGA T str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.10771 None None None None None None CLEC17A|0.002254233|90.27%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs760556242
dbSNP Clinvar
14703099 0.0 TGGA T str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CLEC17A|0.002254233|90.27%

CLEC4M

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 19 . 7830937 0.0 GA... G t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CLEC4M|0.000869781|96.24%

CLSTN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 3 rs761736095
dbSNP Clinvar
140284996 0.0 AGAG A str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CLSTN2|0.522285531|14.88%

CMYA5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 5 . 79095293 0.0 TTCA T alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CMYA5|0.014181606|77.74%

CNKSR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR X rs778488952
dbSNP Clinvar
21627677 0.0 AGAG A alt_allele_in_normal;clustered_events;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CNKSR2|0.732601094|7.56%

CNPY3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 6 rs746515871
dbSNP Clinvar
42897357 0.0 TT... T t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CNPY3|0.07787239|55.69%

COL6A3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs35879189
dbSNP Clinvar
238244863 0.0 TGCA T str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00060 0.05112 0.08590 None None None None None None COL6A3|0.068829768|57.76%

CRB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 9 rs773967435
dbSNP Clinvar
126139181 0.0 GCCT G str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CRB2|0.035723803|67.22%

CTDP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 18 rs772271629
dbSNP Clinvar
77475187 0.0 TGGA T alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.03163 None None None None None None CTDP1|0.016641517|76.13%

CUL4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR X rs766883719,rs776907411
dbSNP Clinvar
119694116 0.0 TGAG T str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00882 None None None None None None CUL4B|0.706839918|8.31%

CXXC4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 4 rs750088127
dbSNP Clinvar
105412093 0.0 CGAG C alt_allele_in_normal;clustered_events;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00080 None None None None None None CXXC4|0.175273358|39.6%

DAXX

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 6 rs774915926
dbSNP Clinvar
33287897 0.0 TT... T clustered_events;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00392 None None None None None None DAXX|0.484012387|16.54%

DBR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 3 rs376362448
dbSNP Clinvar
137880740 0.0 ATCG A alt_allele_in_normal 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DBR1|0.12344623|46.9%

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 8754_onol_s2_vs_onol_n_ucla TUMOR 12 rs755083442
dbSNP Clinvar
2062323 0.0 TTGC T alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DCP1B|0.012911973|78.55%

DDX24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 14 rs756885257
dbSNP Clinvar
94517595 0.0 GTCT G str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DDX24|0.092520169|52.71%

DDX27

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 20 rs550509569
dbSNP Clinvar
47841503 0.0 GGAA G alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00100 0.00100 None None None None None None DDX27|0.165363829|40.88%

DDX54

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 12 rs771160251
dbSNP Clinvar
113601888 0.0 GCCT G str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00667 None None None None None None DDX54|0.071192772|57.18%

DEK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 6 rs766542728
dbSNP Clinvar
18264078 0.0 TTCC T str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.01382 None None None None None None DEK|0.839668154|4.89%

DHX34

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs753186455,rs762000186
dbSNP Clinvar
47883157 0.0 TGGA T str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DHX34|0.036800207|66.87%

DHX36

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 3 . 154042077 0.0 TCCG T str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DHX36|0.3492142|24.2%

DIAPH1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 5 rs767100040
dbSNP Clinvar
140953563 0.0 TGGA T alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DIAPH1|0.460968984|17.63%

DKC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR X rs782576893,rs878854453
dbSNP Clinvar
154005088 0.0 CAAG C alt_allele_in_normal;clustered_events;str_contraction;triallelic_site 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DKC1|0.779908958|6.32%

DLX2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs752884221
dbSNP Clinvar
172967027 0.0 CCCG C str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DLX2|0.420331233|19.55%

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 8754_onol_s2_vs_onol_n_ucla TUMOR 7 rs748226556
dbSNP Clinvar
96635363 0.0 GGCA G alt_allele_in_normal;clustered_events;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DLX6|0.879390184|3.97%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 7 rs766970574
dbSNP Clinvar
96635420 0.0 AGCC A alt_allele_in_normal;clustered_events;germline_risk;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DLX6|0.879390184|3.97%

DMKN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs56743379
dbSNP Clinvar
36002361 0.0 AC... A alt_allele_in_normal;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.19853 None None None None None None DMKN|0.003521347|87.74%

DMRTB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs566504124
dbSNP Clinvar
53930350 0.0 TGCC T str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DMRTB1|0.005179137|85.6%

DNAH3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs766827236
dbSNP Clinvar
21132129 0.0 TCAG T str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None DNAH3|0.103253609|50.56%

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 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs774472392,rs3830472
dbSNP Clinvar
67229793 0.0 ACAG A alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None E2F4|0.500599501|15.79%

EDC4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs758412242
dbSNP Clinvar
67913785 0.0 TAGC T alt_allele_in_normal;clustered_events;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None EDC4|0.410890874|20.13%

EFCAB4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 12 rs765724241
dbSNP Clinvar
3747597 0.0 ACCT A str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CRACR2A|0.025184892|71.72%

EGR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 5 rs781705523
dbSNP Clinvar
137801683 0.0 ACAG A clustered_events;multi_event_alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.05952 None None None None None None EGR1|0.960156703|1.97%

EIF3C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs772308295
dbSNP Clinvar
28734578 0.0 TGAG T alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None EIF3C|0.073579486|56.61%

EIF4G1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 3 rs758724822
dbSNP Clinvar
184039743 0.0 GGAA G str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None EIF2B5|0.736636231|7.47%,EIF4G1|0.671612746|9.35%

ELMSAN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 14 rs773810537
dbSNP Clinvar
74205953 0.0 TTGC T alt_allele_in_normal;str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ELMSAN1|0.126163876|46.42%

EML3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 11 rs759937683
dbSNP Clinvar
62378624 0.0 ACTG A str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None EML3|0.147500051|43.38%

EMX2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 10 rs756693906
dbSNP Clinvar
119302937 0.0 GGCC G alt_allele_in_normal;str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None EMX2|0.742134957|7.32%

EPB41L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 6 rs147222924
dbSNP Clinvar
131191072 0.0 ACTG A str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None EPB41L2|0.270546588|29.86%

ERCC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs761456808
dbSNP Clinvar
128046943 0.0 CTCT C str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00471 None None None None None None ERCC3|0.492658533|16.21%

ERN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs763379777
dbSNP Clinvar
62133220 0.0 AGCT A str_contraction;t_lod_fstar 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.02207 None None None None None None ERN1|0.1172536|47.89%

FAM155A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 13 rs752579719
dbSNP Clinvar
108518658 0.0 CGCT C str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.04106 None None None None None None FAM155A|0.381864835|21.92%

FAU

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 11 rs779460331
dbSNP Clinvar
64888247 0.0 GTCT G str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None FAU|0.593719693|11.99%

FBXW4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 10 rs780365225
dbSNP Clinvar
103454357 0.0 GCCT G str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.04063 None None None None None None FBXW4|0.492191882|16.23%

FFAR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs765476776
dbSNP Clinvar
35940787 0.0 CCTG C str_contraction 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None FFAR2|0.015479964|76.82%