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AVIA Interactive Results Page

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Analysis of Genomic Variations with AVIA

You are viewing the sample results page from AVIA.

Note: The data run through the pipeline was a subset from the RIKEN Liver Cancer data set (from http://www.icgc.org) and with annotations from various coding and non-coding databases. Below, you can click on the different tabs to view subsets of your variant data. You can download all of the results using the "Download All Data" button below. You may also download individual files located near the files displayed.

If you have any questions about the outputs, please click here to view the tutorial.
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Please click here to read how the 'Summary' column was generated. In the table below, if you hover over a header, it should show you a description of the database annotation. For cells in tables with many characters, elipsis should appear, hover over cell to view the entire annotation. Downloads should have complete annotation.

This table contains all mutations submitted for .
SummaryVariant IDANNOVAR annotAnnot FeatGeneProtPosSift predictions and scoresPolyphen2 Predictions and Scores (Human Var)Polyphen2 Predictions and Scores (Human Div)Mutation TasterMutation AssessorProvean Predictions and ScoresCombined Annotation Dependent Depletion (CADD)Functional Analysis through Hidden Markov Models (FATHMM)Variant Effect Scoring Tool (VEST)COSMIC v70Online Mendelian Inheritance in ManClinVarsnoRNA and miRNA annotationsHuman miRNA Disease DatabaseLong intergenic non-coding RNAs (LincRNAs)LncipediaSomamiRVISTA enhancer coordinatesEncode Uniform Peak TFBSEncode Methylation by RRBSCpG IslandsConserved Transcription Factor Binding SitesTargetScan ResultsmicroPIRTargets of SomamiRVISTA expression patterns in organsdbSNP v138Complete Genomics 69 Genomes1000gALL_sites_2014_09HapMap Allele FrequencyGWAS CatalogNCI-60 human tumor cell line panel exome sequencing allele frequency dataNHLBI Exon Sequencing Allele Frequencies (All)nonB databaseGenomic Super DupsProsite DomainsDatabase of Genomic VariantsRepeat MaskerLocation of bands seen on Giemsa-stained chromosomesFantom5_CAGE_peakFANTOM5 Transcription Start Site PredictionFANTOM5 EnhancersPost Translational Modifications from PhosphoSitePlus and PhosidaEnsembl Alt Splice EventsESE Finder ResultsTandem Splice Database (TASS DB)Encode MapabilityDuke/Encode UniquenessEncode Excludable RegionsFunSeq2_ENCODE.annotatedFunSeq2_cdsFunSeq2_coding.scoreFunSeq2_gene.under.negative.selectionFunSeq2_gerpFunSeq2_hot.regionFunSeq2_motif.analysisFunSeq2_network.hubFunSeq2_noncoding.scoreFunSeq2_recurrenceFunSeq2_recurrence.cancer.datasetFunSeq2_sensitiveFunSeq2_target.gene(known_cancer_gene/TF_regulating_known_cancer_gene:differential_expressed_in_cancer:actionable_gene)FunSeq2_ultra.conservedFunSeq2_ultra.sensitiveFunSeq2_user.annotationsFunSeq2_variant.annotation.cds comments
OF7:87160618:87160618:A:Cexonicnonsynonymous SNV:ABCB1:NM_000927:exon22:c.T2677G:p.S893A:Tct, ABCB1NM_000927:S893A, TOLERATED:1.00(2.73)Benign:0.005Benign:0.0Polymorphism Automatic:0.999Neutral:-0.98ENSP00000265724:NEUTRAL:1.665;ENSP00000437986:NEUTRAL:1.848;ENSP00000444095:NEUTRAL:1.6980.196(5.057)Deleterious:-2.240.057-171050;----lnc-RUNDC3B-1:1-----Score=959;V$HSF2_01----rs2032582,0.45(0.15)0.6520.6170130.68159--0.678072---nsv888677:CNV(Gain):PMID=21882294;nsv464622:CNV(Gain):PMID=19166990-q21.12-------11--Yes3-4.5-----ABCB1:Breast(Altered in 2/119(1.68%) samples.)|Liver(Altered in 2/88(2.27%) samples.)|Lung_Adeno(Altered in 4/24(16.67%) samples.)-ABCB1---VA=1:ABCB1:ENSG00000085563.10:-:nonsynonymous:2/2:ABCB1-001:ENST00000265724.3:3843_2677_893_S->A:ABCB1-201:ENST00000543898.1:3651_2485_829_S->A|
1:21580:21580:C:TncRNA_intronicNR_024540:E2:+3158WASH7P------------------------hsa-miR-1178;hsa-miR-1298;hsa-miR-576-5p;hsa-miR-324-3p;hsa-miR-639;hsa-miR-1913;hsa-miR-1208;hsa-miR-874--rs526642:0.00(0.00)-------Score=0.994828;chr19:60000-dgv3e1:CNV(Complex):PMID=17122850;esv27265:CNV(Gain+Loss):PMID=19812545;nsv7879:CNV(Gain+Loss):PMID=18304495;nsv428112:CNV(Gain):PMID=18775914;dgv2n71:CNV(Gain):PMID=21882294;dgv1e1:CNV(Complex):PMID=17122850-p36.33-------0.1666670.5--No---0.378---1.23031164771887e-39--------|
O10:105164905:105164905:A:-exonicframeshift deletion:PDCD11:NM_014976:exon5:c.529delA:p.R177fs:Aga, PDCD11NM_014976:R177fs, ---------ID=COSM50224;OCCURENCE=1(BREAST)612333;---------------------0.000077---nsv7529:CNV(Insertion):PMID=18451855-q24.33-----CAGAGTG-11----PDCD11---PDCD11:PHOS(0.398)PPI(0.962)REG(0.409)----PDCD11(Coding)----|
O10:105821222:105821222:A:-exonicframeshift deletion:COL17A1:NM_000494:exon13:c.920delT:p.V307fs:gTg, COL17A1NM_000494:V307fs, ---------ID=COSM69102;OCCURENCE=1(OVARY)113811;226650;---------------------------q25.1-;CAGE_peak_at_chr10:105821197..105821223Score=0.000000;-;p@chr10:105821197..105821223;0.1140-----11-DHS(MCV-3|chr10:105821080-105821230)--COL17A1---COL17A1:PPI(0.641)----COL17A1(Coding)----|
O11:20112466:20112466:T:Cexonicsynonymous SNV:NAV2:NM_001111019:exon17:c.T2746C:p.L916L:Tta, NAV2:NM_182964:exon27:c.T5563C:p.L1855L:Tta, NAV2:NM_001244963:exon29:c.T5731C:p.L1911L:Tta, NAV2:NM_001111018:exon27:c.T5362C:p.L1788L:Tta, NAV2:NM_145117:exon27:c.T5554C:p.L1852L:Tta, NAV2NM_001111019:L916L, NM_182964:L1855L, NM_001244963:L1911L, NM_001111018:L1788L, NM_145117:L1852L, ---------ID=COSM182642;OCCURENCE=1(LARGE_INTESTINE)607026;-------------------------nsv524463:CNV(Loss):PMID=19592680-p15.1-------11--Yes1-5.55-----NAV2:Liver(Altered in 2/88(2.27%) samples.)|Prostate(Altered in 2/64(3.12%) samples.)-NAV2---VA=1:NAV2:ENSG00000166833.15:+:synonymous:8/8:NAV2-008:ENST00000360655.4:7098_5362_1788_L->L:NAV2-003:ENST00000349880.4:7290_5554_1852_L->L:NAV2-002:ENST00000396085.1:7299_5563_1855_L->L:NAV2-001:ENST00000396087.3:7467_5731_1911_L->L:NAV2-202:ENST00000527559.2:7254_5518_1840_L->L:NAV2-203:ENST00000540292.1:7260_5524_1842_L->L:NAV2-201:ENST00000311043.8:4482_2746_916_L->L:NAV2-005:ENST00000533917.1:4482_2746_916_L->L|
DOF11:27114906:27114906:T:Gexonicnonsynonymous SNV:BBOX1:NM_003986:exon5:c.T526G:p.F176V:Ttt, BBOX1NM_003986:F176V, TOLERATED:0.46(1.50)Benign:0.347Probably DAMAGING:0.772Disease Causing:1.000Medium:2.095-3.881(19.72)Deleterious:-1.670.905ID=COSM171997;OCCURENCE=2(LARGE_INTESTINE)603312;----------Score=917;V$TATA_C--------------nsv897147:CNV(Loss):PMID=21882294-p14.2----ENSG00000129151-CE-1CTCACAT-11--Yes3Yes5.53-------BBOX1---VA=1:BBOX1:ENSG00000129151.4:+:nonsynonymous:4/4:BBOX1-201:ENST00000263182.3:1164_526_176_F->V:BBOX1-004:ENST00000525090.1:1164_526_176_F->V:BBOX1-002:ENST00000528583.1:1164_526_176_F->V:BBOX1-001:ENST00000529202.1:1164_526_176_F->V|
OP11:7661056:7661056:A:-exonicframeshift deletion:PPFIBP2:NM_003621:exon15:c.1330delA:p.T444fs:Acc, PPFIBP2:NM_001256569:exon11:c.901delA:p.T301fs:Acc, PPFIBP2:NM_001256568:exon12:c.994delA:p.T332fs:Acc, PPFIBP2NM_003621:T444fs, NM_001256569:T301fs, NM_001256568:T332fs, ---------ID=COSM214579;OCCURENCE=1(BREAST)603142;-------chr11:7660725-7661265:MCF10A-Er-Src:32.08-----------------nsv7215:OTHER(Inversion):PMID=18451855;nsv499766:OTHER(Inversion):PMID=21111241-p15.4---mod_type="PHOSPHORYLATION"ENSG00000166387-CE-4CCCACCA;TCCCACC-11-DHS(MCV-9|chr11:7660965-7661115)--PPFIBP2---PPFIBP2:PPI(0.482)REG(0.634)----PPFIBP2(Coding)----|
DOF1:216017736:216017736:T:Cexonicnonsynonymous SNV:USH2A:NM_206933:exon46:c.A9158G:p.Y3053C:tAt, USH2ANM_206933:Y3053C, DAMAGING:0.00(2.10)Benign:0.046Benign:0.298Disease Causing:1.000Medium:3.23-1.964(12.52)Tolerated:-1.180.712ID=COSM137343;OCCURENCE=1(SKIN)268000;276901;608400;-------------------------nsv832548:CNV(Gain):PMID=17160897-q41-----GTATTCTA-11--Yes4Yes6.04-----USH2A:Breast(Altered in 5/119(4.20%) samples.)|Liver(Altered in 5/88(5.68%) samples.)|Lung_Adeno(Altered in 8/24(33.33%) samples.)|Prostate(Altered in 2/64(3.12%) samples.)-USH2A---VA=1:USH2A:ENSG00000042781.8:-:nonsynonymous:2/3:USH2A-002:ENST00000307340.3:15609_9158_3053_Y->C:USH2A-201:ENST00000366943.2:15681_9158_3053_Y->C|
DOF1:21924946:21924946:T:Cexonicnonsynonymous SNV:RAP1GAP:NM_001145658:exon22:c.A2018G:p.Y673C:tAt, RAP1GAP:NM_001145657:exon24:c.A1904G:p.Y635C:tAt, RAP1GAP:NM_002885:exon22:c.A1826G:p.Y609C:tAt, RAP1GAPNM_001145658:Y673C, NM_001145657:Y635C, NM_002885:Y609C, -DAMAGING:0.98DAMAGING:1.0Disease Causing:1.000Low:1.04ENSP00000290101:DELETERIOUS:-2.757;ENSP00000363890:NEUTRAL:0.000;ENSP00000363893:DELETERIOUS:-2.564;ENSP00000363895:DELETERIOUS:-2.564;ENSP00000363897:DELETERIOUS:-2.564;ENSP00000441661:NEUTRAL:-1.7844.359(23.0)Deleterious:-2.950.835ID=COSM33590;OCCURENCE=1(BREAST)600278;-------chr1:21924876-21925032:K562:51.37--Score=830;V$USF_01----rs147394161:0.01(0.07)-0.00299521---0.009457---nsv428432:CNV(Gain):PMID=18775914;dgv192n71:CNV(Loss):PMID=21882294;nsv508359:CNV(Loss):PMID=20534489;nsv834391:CNV(Loss):PMID=17160897;dgv42e1:CNV(Complex):PMID=17122850;nsv870456:CNV(Gain):PMID=21882294;dgv189n71:CNV(Loss):PMID=21882294;nsv871036:CNV(Loss):PMID=21882294;dgv191n71:CNV(Loss):PMID=21882294;esv34155:CNV(Loss):PMID=18971310;nsv871612:CNV(Loss):PMID=21882294;nsv517096:CNV(Loss):PMID=19592680;nsv871706:CNV(Loss):PMID=21882294;nsv470704:CNV(Gain):PMID=18288195;nsv509002:CNV(Insertion):PMID=20534489-p36.12----ENSG00000076864-II-3;ENSG00000076864-A5SS-2TCTATAG-11--Yes4Yes3.6--PPI----RAP1GAP---VA=1:RAP1GAP:ENSG00000076864.15:-:nonsynonymous:5/7:RAP1GAP-201:ENST00000290101.4:2184_2018_673_Y->C:RAP1GAP-202:ENST00000374761.2:2085_1919_640_Y->C:RAP1GAP-015:ENST00000374763.2:2247_2081_694_Y->C:RAP1GAP-001:ENST00000374765.4:1992_1826_609_Y->C:RAP1GAP-014:ENST00000542643.2:2046_1904_635_Y->C|
O12:20787846:20787846:T:Aexonicsynonymous SNV:PDE3A:NM_000921:exon8:c.T1857A:p.A619A:gcT, PDE3A:NM_001244683:exon7:c.T891A:p.A297A:gcT, PDE3ANM_000921:A619A, NM_001244683:A297A, ---------ID=COSM177475;OCCURENCE=1(LARGE_INTESTINE)123805;----------Score=832;V$CDC5_01--------------nsv898858:CNV(Loss):PMID=21882294-p12.2-----CTCAAGT-11--Yes0-5.64-------PDE3A---VA=1:PDE3A:ENSG00000172572.6:+:synonymous:1/1:PDE3A-001:ENST00000359062.3:3426_1857_619_A->A|
12:21593346:21593346:T:Gexonicsynonymous SNV:PYROXD1:NM_024854:exon2:c.T129G:p.A43A:gcT, PYROXD1NM_024854:A43A, ---------ID=COSM183019;OCCURENCE=1(LARGE_INTESTINE)--------------------------nsv898895:CNV(Loss):PMID=21882294;nsv898896:CNV(Gain):PMID=21882294-p12.1----ENSG00000121350-CE-6;ENSG00000121350-CE-5;ENSG00000121350-CE-2CTTCTCC-11--Yes0-3.1-------PYROXD1---VA=1:PYROXD1:ENSG00000121350.11:+:synonymous:5/6:PYROXD1-001:ENST00000240651.9:1503_129_43_A->A:PYROXD1-009:ENST00000543476.1:420_129_43_A->A:PYROXD1-003:ENST00000544970.1:420_129_43_A->A:PYROXD1-201:ENST00000545178.1:420_129_43_A->A:PYROXD1-004:ENST00000375266.4:168_129_43_A->A|
O12:21991106:21991106:T:CsplicingABCC9(NM_020297:exon29:c.3474-2A>G, NM_005691:exon29:c.3474-2A>G)----Disease Causing:1.000--3.168(16.60)--ID=COSM109953;OCCURENCE=1(SKIN)608569;601439;CLINSIG=other;CLNDBN=Malignant_melanoma;CLNACC=RCV000062475.2------chr12:21990850-21991130:K562:39.06--Score=757;V$STAT3_01----rs145586830:0.00(0.00)---------nsv470275:CNV(Gain):PMID=18288195-p12.1-------11-TFP(MAFF|chr12:21990800-21991168), TFP(MAFK|chr12:21990795-21991167), TFP(MAFK|chr12:21990797-21991159), TFP(MAFK|chr12:21990810-21991158)No---3.54--ABCC9:PPI(0.671)0.531096528412772---ABCC9(Intron)----|
DOF12:22015896:22015896:T:Cexonicnonsynonymous SNV:ABCC9:NM_020297:exon18:c.A2330G:p.N777S:aAc, ABCC9:NM_005691:exon18:c.A2330G:p.N777S:aAc, ABCC9NM_020297:N777S, NM_005691:N777S, DAMAGING:0.02(2.52)Benign:0.12Benign:0.13Disease Causing:1.000Neutral:-0.26-2.253(13.49)Deleterious:-2.540.051ID=COSM136054;OCCURENCE=1(SKIN)608569;601439;-------------------------nsv470275:CNV(Gain):PMID=18288195-p12.1-------11--Yes4Yes5.44-----ABCC9:Liver(Altered in 2/88(2.27%) samples.)|Lung_Adeno(Altered in 2/24(8.33%) samples.)|Medulloblastoma(Altered in 2/100(2.00%) samples.)|Prostate(Altered in 3/64(4.69%) samples.)-ABCC9---VA=1:ABCC9:ENSG00000069431.6:-:nonsynonymous:3/5:ABCC9-001:ENST00000261200.4:4650_2330_777_N->S:ABCC9-002:ENST00000261201.4:4650_2330_777_N->S:ABCC9-201:ENST00000345162.2:4542_2222_741_N->S|
DOF12:25380276:25380276:T:Cexonicnonsynonymous SNV:KRAS:NM_033360:exon3:c.A182G:p.Q61R:cAa, KRAS:NM_004985:exon3:c.A182G:p.Q61R:cAa, KRASNM_033360:Q61R, NM_004985:Q61R, DAMAGING <Warning! Low confidence>:0.02(3.40)Benign:0.153Benign:0.158Disease Causing:1.000Medium:3.3ENSP00000256078:DELETERIOUS:-3.455;ENSP00000308495:DELETERIOUS:-3.2894.023(20.6)Deleterious:-1.750.93ID=COSM1158660, COSM552;OCCURENCE=1(SKIN), 9(PANCREAS), 1(GENITAL_TRACT), 27(LARGE_INTESTINE), 1(PROSTATE), 1(CENTRAL_NERVOUS_SYSTEM), 2(STOMACH), 1(UPPER_AERODIGESTIVE_TRACT), 10(LUNG), 9(THYROID), 3(HAEMATOPOIETIC_AND_LYMPHOID_TISSUE), 1(CERVIX)190070;---------------rs121913240,0.00(0.00)---------dgv1394n71:CNV(Loss):PMID=21882294;nsv898922:CNV(Loss):PMID=21882294-p12.1----ENSG00000133703-CE-3;ENSG00000133703-ALE-1;ENSG00000133703-CE-2AAGAGGA-11--Yes4Yes5.77--PPI----KRAS[actionable][cancer]---VA=1:KRAS:ENSG00000133703.7:-:nonsynonymous:2/4:KRAS-001:ENST00000311936.3:567_182_61_Q->R:KRAS-004:ENST00000256078.4:570_182_61_Q->R|
DOVF12:25398306:25398306:T:Cexonicnonsynonymous SNV:KRAS:NM_033360:exon2:c.A13G:p.K5E:Aaa, KRAS:NM_004985:exon2:c.A13G:p.K5E:Aaa, KRASNM_033360:K5E, NM_004985:K5E, DAMAGING <Warning! Low confidence>:0.00(3.41)DAMAGING:0.965DAMAGING:0.999Disease Causing:1.000High:4.105-4.975(29.1)Deleterious:-2.040.988ID=COSM132886, COSM1605975;OCCURENCE=1(HAEMATOPOIETIC_AND_LYMPHOID_TISSUE), 2(LIVER)190070;CLINSIG=pathogenic;CLNDBN=Noonan_syndrome_3;CLNACC=RCV000013427.18--------------rs193929331:0.00(0.00)---------nsv898927:CNV(Loss):PMID=21882294;nsv470279:CNV(Gain):PMID=18288195;dgv1394n71:CNV(Loss):PMID=21882294;nsv898922:CNV(Loss):PMID=21882294-p12.1----ENSG00000133703-CNE-1--11--Yes4Yes5.68--PPI----KRAS[actionable][cancer]---VA=1:KRAS:ENSG00000133703.7:-:nonsynonymous:4/4:KRAS-001:ENST00000311936.3:567_13_5_K->E:KRAS-003:ENST00000557334.1:228_13_5_K->E:KRAS-004:ENST00000256078.4:570_13_5_K->E:KRAS-002:ENST00000556131.1:132_13_5_K->E|
DF1:248201606:248201606:T:Aexonicnonsynonymous SNV:OR2L2:NM_001004686:exon1:c.T37A:p.L13I:Tta, OR2L2NM_001004686:L13I, DAMAGING:0.01(2.87)DAMAGING:0.993DAMAGING:1.0Polymorphism:1.000Medium:2.845-2.091(12.95)Tolerated:6.70.11ID=COSM71969;OCCURENCE=1(OVARY)--------------------------nsv873442:CNV(Gain):PMID=21882294;dgv205e1:CNV(Complex):PMID=17122850;dgv204e1:CNV(Complex):PMID=17122850;nsv873445:CNV(Loss):PMID=21882294;nsv515858:CNV(Gain+Loss):PMID=19592680;esv33129:CNV(Gain+Loss):PMID=17666407;esv2750832:CNV(Gain):PMID=17911159;esv34503:CNV(Gain):PMID=17911159;dgv75e201:CNV(Deletion):PMID=23290073;esv2727929:CNV(Deletion):PMID=23290073;esv2663706:CNV(Deletion):PMID=23128226-q44----ENSG00000203663-CNE-1---1--Yes3-2.13-----OR2L2:Breast(Altered in 2/119(1.68%) samples.)-OR2L2---VA=1:OR2L2:ENSG00000203663.2:+:nonsynonymous:1/1:OR2L2-001:ENST00000366479.2:939_37_13_L->I|
DOF1:28931966:28931966:T:Cexonicnonsynonymous SNV:TAF12:NM_005644:exon5:c.A368G:p.Q123R:cAg, TAF12:NM_001135218:exon5:c.A368G:p.Q123R:cAg, TAF12NM_005644:Q123R, NM_001135218:Q123R, DAMAGING:0.04(2.83)Probably DAMAGING:0.474Probably DAMAGING:0.8Disease Causing:1.000Low:1.355-4.026(20.6)-0.805ID=COSM78605;OCCURENCE=1(OVARY)600773;---------------------------p35.3-------11--Yes4Yes5.65--PPI&REG----TAF12---VA=1:TAF12:ENSG00000120656.7:-:nonsynonymous:2/2:TAF12-001:ENST00000263974.4:486_368_123_Q->R:TAF12-002:ENST00000373824.4:486_368_123_Q->R|
OF13:28599006:28599006:T:Gexonicnonsynonymous SNV:FLT3:NM_004119:exon18:c.A2282C:p.H761P:cAc, FLT3NM_004119:H761P, TOLERATED:0.19(2.33)Benign:0.001Benign:0.002Polymorphism:0.837Low:1.04-1.654(11.49)Tolerated:-0.840.245ID=COSM139987;OCCURENCE=1(SKIN)136351;---------------------------q12.2-----TCACTCT-11--Yes2-4.49-------FLT3[actionable][cancer]---VA=1:FLT3:ENSG00000122025.10:-:nonsynonymous:3/4:FLT3-001:ENST00000241453.7:2982_2282_761_H->P:FLT3-201:ENST00000380982.4:2991_2282_761_H->P:FLT3-202:ENST00000537084.1:2859_2282_761_H->P|
O17:29664536:29664536:-:GAexonicframeshift insertion:NF1:NM_001042492:exon43:c.6578_6579insGA:p.E2193fs:gAg, NF1:NM_000267:exon42:c.6515_6516insGA:p.E2172fs:gAg, NF1NM_001042492:E2193fs, NM_000267:E2172fs, ----------607785;162200;601321;193520;162210;114500;----------------------Short_Tandem_Repeat;chr17_29664535_29664544_STR--nsv833413:CNV(Gain+Loss):PMID=17160897-q11.2-------11----NF1---NF1:PPI(0.774)REG(0.409)----NF1(Coding&Promoter)[actionable][cancer]----|
O18:28919916:28919916:T:Gexonicnonsynonymous SNV:DSG1:NM_001942:exon11:c.T1615G:p.L539V:Ttg, DSG1NM_001942:L539V, TOLERATED:0.58(2.30)Benign:0.001Benign:0.0Polymorphism:1.000Neutral:0.345ENSP00000257192:NEUTRAL:0.487-2.404(0.003)Tolerated:0.470.072ID=COSM148418;OCCURENCE=1(STOMACH)125670;148700;---------------rs140327039:0.02(0.09)-0.00379393---0.000077---nsv909516:CNV(Gain):PMID=21882294-q12.1-------11--Yes1--1.83-------DSG1---VA=1:DSG1:ENSG00000134760.5:+:nonsynonymous:1/2:DSG1-001:ENST00000257192.4:3150_1615_539_L->V|
19:12739502:12739502:A:-exonicframeshift deletion:ZNF791:NM_153358:exon4:c.1159delA:p.K387fs:Aaa, ZNF791NM_153358:K387fs, ---------ID=COSM181057;OCCURENCE=1(LARGE_INTESTINE)--------chr19:12739032-12739916:K562:79.64-------------------p13.2-------11-TFP(SETDB1|chr19:12738495-12740199), TFP(SETDB1|chr19:12738555-12740296), TFP(SETDB1|chr19:12738831-12739817), TFP(TRIM28|chr19:12738479-12740300), TFP(TRIM28|chr19:12738747-12739803), TFP(ZNF274|chr19:12738579-12739903)--ZNF791---ZNF791:REG(0.409)----ZNF791(Coding&UTR)----|
O19:20044886:20044886:T:Cexonicsynonymous SNV:ZNF93:NM_031218:exon4:c.T1122C:p.C374C:tgT, ZNF93NM_031218:C374C, -----ENSP00000342002:NEUTRAL:0.000;ENSP00000417024:NEUTRAL:0.000----603975;-------chr19:20044417-20045021:K562:31.97-------rs10401345:0.17(0.24)0.0800.120008---0.092957---nsv458376:CNV(Gain):PMID=19166990;esv2718300:CNV(Deletion):PMID=23290073;dgv550e201:CNV(Deletion):PMID=23290073;esv2656893:CNV(Deletion):PMID=23128226;esv2718298:CNV(Deletion):PMID=23290073;nsv911319:CNV(Gain):PMID=21882294;esv2718296:CNV(Deletion):PMID=23290073;dgv3792n71:CNV(Gain):PMID=21882294;nsv519535:CNV(Gain):PMID=19592680-p12----ENSG00000184635-ALE-2;ENSG00000184635-ALE-1--11--Yes0-0.85-------ZNF93---VA=1:ZNF93:ENSG00000184635.9:+:synonymous:1/4:ZNF93-001:ENST00000343769.5:1863_1122_374_C->C|
19:21300346:21300346:T:Aexonicsynonymous SNV:ZNF714:NM_182515:exon5:c.T876A:p.A292A:gcT, ZNF714NM_182515:A292A, ---------ID=COSM86240;OCCURENCE=1(OVARY)--------------------------esv2718324:CNV(Deletion):PMID=23290073;esv4924:CNV(Complex):PMID=18987735;dgv72e19:CNV(Loss):PMID=19470904;esv2660807:CNV(Deletion):PMID=23128226;nsv458377:CNV(Gain):PMID=19166990;dgv551e201:CNV(Deletion):PMID=23290073;esv5243:CNV(Deletion):PMID=18987735;esv2665276:CNV(Deletion):PMID=23128226;nsv911413:CNV(Gain):PMID=21882294-p12----ENSG00000160352-CNE-5--11--Yes1-0.955-----ZNF714:Lung_Adeno(Altered in 2/24(8.33%) samples.)-ZNF714---VA=1:ZNF714:ENSG00000160352.11:+:synonymous:2/6:ZNF714-001:ENST00000596143.1:1665_876_292_A->A:ZNF714-003:ENST00000600435.1:1665_876_292_A->A|
DO19:22271096:22271096:T:Cexonicnonsynonymous SNV:ZNF257:NM_033468:exon4:c.T544C:p.F182L:Ttt, ZNF257NM_033468:F182L, DAMAGING:0.01(2.85)Benign:0.033Benign:0.37Polymorphism:1.000Medium:3.185-1.105(9.508)-0.062ID=COSM73408;OCCURENCE=1(OVARY)606957;-------chr19:22271054-22271710:NT2-D1:100.32-----------------esv34340:CNV(Loss):PMID=17911159;dgv1066e1:CNV(Complex):PMID=17122850;dgv553e201:CNV(Deletion):PMID=23290073;nsv525240:CNV(Gain):PMID=19592680;nsv436253:CNV(Deletion):PMID=17901297;nsv911434:CNV(Gain):PMID=21882294;dgv554e201:CNV(Deletion):PMID=23290073;nsv436853:CNV(Insertion):PMID=17901297;dgv633e199:CNV(Deletion):PMID=23128226;nsv7306:OTHER(Inversion):PMID=18451855;nsv520741:CNV(Loss):PMID=19592680;dgv552e201:CNV(Deletion):PMID=23290073;nsv469674:CNV(Complex):PMID=16826518;nsv436857:CNV(Insertion):PMID=17901297;esv4924:CNV(Complex):PMID=18987735;esv731:CNV(CNV):PMID=17122850;esv2718335:CNV(Deletion):PMID=23290073;dgv3808n71:CNV(Gain):PMID=21882294;nsv470135:CNV(Loss):PMID=18288195;nsv911435:CNV(Loss):PMID=21882294;dgv3812n71:CNV(Loss):PMID=21882294-p12----ENSG00000197134-CNE-4--11--Yes1-0.51-------ZNF257---VA=1:ZNF257:ENSG00000197134.7:+:nonsynonymous:1/4:ZNF257-001:ENST00000594947.1:1692_544_182_F->L|
F19:22499326:22499326:T:Cexonicnonsynonymous SNV:ZNF729:NM_001242680:exon4:c.T3107C:p.M1036T:aTg, ZNF729NM_001242680:M1036T, TOLERATED:0.70(2.60)------3.937(0.001)Tolerated:1.30.022ID=COSM86252;OCCURENCE=1(OVARY)-----------------------Inverted_Repeat;chr19_22499322_22499336_IRScore=0.910164;chr19:22938309-esv34340:CNV(Loss):PMID=17911159;dgv1066e1:CNV(Complex):PMID=17122850;dgv553e201:CNV(Deletion):PMID=23290073;nsv525240:CNV(Gain):PMID=19592680;dgv3814n71:CNV(Gain):PMID=21882294;nsv436853:CNV(Insertion):PMID=17901297;dgv633e199:CNV(Deletion):PMID=23128226;dgv552e201:CNV(Deletion):PMID=23290073;nsv911441:CNV(Gain):PMID=21882294;esv731:CNV(CNV):PMID=17122850;esv4924:CNV(Complex):PMID=18987735;dgv3813n71:CNV(Gain):PMID=21882294;esv2718335:CNV(Deletion):PMID=23290073;nsv833786:CNV(Gain):PMID=17160897;dgv3n43:CNV(Gain):PMID=19587683-p12-------10.5--Yes2--1.99-----ZNF729:Prostate(Altered in 2/64(3.12%) samples.)-ZNF729---VA=1:ZNF729:ENSG00000196350.7:+:nonsynonymous:2/2:ZNF729-001:ENST00000601693.1:3759_3107_1036_M->T:ZNF729-201:ENST00000357491.6:3519_3023_1008_M->T|
OF19:22939096:22939096:T:GUTR3NM_001080409:E04:m.11269:c.+1020ZNF99-TOLERATED:1.00(2.70)Benign:0.002Benign:0.0Polymorphism Automatic:1.000-ENSP00000380293:NEUTRAL:3.564-2.515(0.003)Tolerated:5.640.145-603981;---------------rs55681804:0.20(0.24)0.1160.120208---0.092457-Score=0.910164;chr19:22485878-esv34340:CNV(Loss):PMID=17911159;dgv1066e1:CNV(Complex):PMID=17122850;dgv553e201:CNV(Deletion):PMID=23290073;nsv525240:CNV(Gain):PMID=19592680;nsv911451:CNV(Gain):PMID=21882294;esv2284083:CNV(Deletion):PMID=18987734;nsv911452:CNV(Gain):PMID=21882294;dgv3814n71:CNV(Gain):PMID=21882294;nsv436853:CNV(Insertion):PMID=17901297;dgv633e199:CNV(Deletion):PMID=23128226;dgv552e201:CNV(Deletion):PMID=23290073;nsv509729:CNV(Insertion):PMID=20534489;esv731:CNV(CNV):PMID=17122850;esv4924:CNV(Complex):PMID=18987735;esv2751784:CNV(Gain):PMID=17911159;esv990916:CNV(Deletion):PMID=20482838;dgv138e55:CNV(Gain):PMID=17911159;nsv510881:CNV(Complex):PMID=20534489;esv2662471:CNV(Deletion):PMID=23128226;dgv3n43:CNV(Gain):PMID=19587683-p12-------11--Yes2--0.0438-----ZNF99:Liver(Altered in 2/88(2.27%) samples.)-ZNF99---VA=1:ZNF99:ENSG00000213973.4:-:nonsynonymous:1/2:ZNF99-201:ENST00000397104.3:3114_3025_1009_T->P|
DO19:23542956:23542956:T:Gexonicnonsynonymous SNV:ZNF91:NM_003430:exon4:c.A2825C:p.E942A:gAa, ZNF91NM_003430:E942A, DAMAGING:0.05(2.61)DAMAGING:0.918DAMAGING:0.998Polymorphism:1.000Low:1.325-1.342(10.41)Tolerated:3.240.144ID=COSM77170;OCCURENCE=1(OVARY)603971;-------------------------nsv833790:CNV(Gain):PMID=17160897;dgv1068e1:CNV(Complex):PMID=17122850;essv17031:CNV(CNV):PMID=17122850;esv731:CNV(CNV):PMID=17122850;esv2751784:CNV(Gain):PMID=17911159;nsv9686:CNV(Gain+Loss):PMID=18304495;dgv555e201:CNV(Deletion):PMID=23290073;dgv138e55:CNV(Gain):PMID=17911159;nsv817826:CNV(Gain):PMID=17921354-p12-------10--Yes1-0.199-------ZNF91---VA=1:ZNF91:ENSG00000167232.9:-:nonsynonymous:2/3:ZNF91-001:ENST00000300619.7:3576_2825_942_E->A:ZNF91-002:ENST00000397082.2:3480_2729_910_E->A|
DF19:2853696:2853696:T:Cexonicnonsynonymous SNV:ZNF555:NM_152791:exon4:c.T1633C:p.F545L:Ttc, ZNF555:NM_001172775:exon4:c.T1630C:p.F544L:Ttc, ZNF555NM_152791:F545L, NM_001172775:F544L, DAMAGING:0.00(2.55)DAMAGING:0.998DAMAGING:1.0Polymorphism:0.519Low:1.625-4.065(20.9)Tolerated:0.880.711ID=COSM78842;OCCURENCE=3(LARGE_INTESTINE), 1(OVARY)--------chr19:2853136-2853712:A549:62.87-----------------nsv509715:CNV(Insertion):PMID=20534489;nsv910692:CNV(Loss):PMID=21882294;nsv482209:CNV(Loss):PMID=20164927-p13.3-----GTCTTCAA-11--Yes5Yes2.93--REG--ZNF555:Liver(Altered in 2/88(2.27%) samples.)-ZNF555---VA=1:ZNF555:ENSG00000186300.7:+:nonsynonymous:2/2:ZNF555-001:ENST00000334241.4:1887_1633_545_F->L:ZNF555-003:ENST00000591539.1:1884_1630_544_F->L|
OF20:20018196:20018196:T:Cexonicnonsynonymous SNV:CRNKL1:NM_001278627:exon14:c.A1298G:p.Q433R:cAg, CRNKL1:NM_001278626:exon14:c.A1298G:p.Q433R:cAg, CRNKL1:NM_016652:exon14:c.A2150G:p.Q717R:cAg, CRNKL1:NM_001278628:exon13:c.A1667G:p.Q556R:cAg, CRNKL1:NM_001278625:exon14:c.A2114G:p.Q705R:cAg, CRNKL1NM_001278627:Q433R, NM_001278626:Q433R, NM_016652:Q717R, NM_001278628:Q556R, NM_001278625:Q705R, TOLERATED:0.35(2.89)Benign:0.009Benign:0.017Disease Causing:1.000Low:0.875-2.463(14.19)Tolerated:1.390.476ID=COSM182613;OCCURENCE=1(LARGE_INTESTINE)610952;---------------------------p11.23----ENSG00000101343-II-5;ENSG00000101343-A5SS-4CTCAGTT-11--Yes3-5.02--PPI----CRNKL1---VA=1:CRNKL1:ENSG00000101343.10:-:nonsynonymous:3/5:CRNKL1-001:ENST00000377327.4:2511_2114_705_Q->R:CRNKL1-002:ENST00000377340.2:2547_2150_717_Q->R:CRNKL1-007:ENST00000536226.1:2064_1667_556_Q->R|
DOF2:219679156:219679156:T:Gexonicnonsynonymous SNV:CYP27A1:NM_000784:exon7:c.T1238G:p.V413G:gTt, CYP27A1NM_000784:V413G, DAMAGING:0.00(2.29)DAMAGING:0.982DAMAGING:0.998Disease Causing:0.880Medium:2.945-4.161(21.5)Tolerated:-0.550.753ID=COSM210030;OCCURENCE=1(LARGE_INTESTINE)606530;----------Score=837;V$IRF7_01----------------q35----ENSG00000135929-IR-2--11--Yes2Yes-5.84-------CYP27A1---VA=1:CYP27A1:ENSG00000135929.4:+:nonsynonymous:1/2:CYP27A1-001:ENST00000258415.4:1596_1238_413_V->G|
DOF22:24121566:24121566:T:Cexonicnonsynonymous SNV:MMP11:NM_005940:exon2:c.T301C:p.S101P:Tct, MMP11NM_005940:S101P, TOLERATED:0.42(2.30)Probably DAMAGING:0.6DAMAGING:0.996Disease Causing:1.000Low:0.895-4.119(21.2)Tolerated:2.560.67ID=COSM141617;OCCURENCE=1(UPPER_AERODIGESTIVE_TRACT)185261;----------Score=726;V$LUN1_01--------------nsv7350:OTHER(Inversion):PMID=18451855;dgv4906n71:CNV(Gain):PMID=21882294;nsv914597:CNV(Loss):PMID=21882294;esv2724041:CNV(Deletion):PMID=23290073;nsv526567:CNV(Gain):PMID=19592680-q11.23----ENSG00000099953-IR-1;ENSG00000099953-II-5;ENSG00000099953-A5SS-3;ENSG00000099953-IR-6;ENSG00000099953-A5SS-1;ENSG00000099953-IR-3;ENSG00000099953-II-3;ENSG00000099953-A5SS-5TTTCTGG;GCTTTCTG-11--Yes3Yes4.7-------MMP11---VA=1:MMP11:ENSG00000099953.5:+:nonsynonymous:2/3:MMP11-001:ENST00000215743.3:1467_301_101_S->P:MMP11-008:ENST00000428253.1:342_301_101_S->P|
O22:24145526:24145526:A:-exonicframeshift deletion:SMARCB1:NM_003073:exon5:c.545delA:p.Q182fs:cAg, SMARCB1:NM_001007468:exon5:c.518delA:p.Q173fs:cAg, SMARCB1NM_003073:Q182fs, NM_001007468:Q173fs, ---------ID=COSM1077;OCCURENCE=1(CENTRAL_NERVOUS_SYSTEM)601607;162091;609322;-------chr22:24145216-24145540:GM12891:61.59--Score=750;V$TCF11MAFG_01--------------nsv7350:OTHER(Inversion):PMID=18451855;dgv4906n71:CNV(Gain):PMID=21882294;esv2724041:CNV(Deletion):PMID=23290073;nsv526567:CNV(Gain):PMID=19592680-q11.23-----CAGCCCG;TCTCAGC-11-TFP(POU2F2|chr22:24145017-24146068), TFP(POU2F2|chr22:24145042-24146040), TFP(POU2F2|chr22:24145204-24145847), TFP(TCF12|chr22:24145220-24145717), TFP(YY1|chr22:24144988-24145778), TFP(YY1|chr22:24145043-24145617), TFP(YY1|chr22:24145170-24145654), TFP(YY1|chr22:24145204-24145565)----Gm12878-SMARCB1:PHOS(0.276)PPI(0.990)REG(0.993)----SMARCB1(Coding)[TF_regulating_known_cancer_gene:ABL1, BCR, DDX5, EIF4A2, H3F3B, HIST1H3B, HIST1H4I, HNRNPA2B1, MALAT1, NDRG1, NUP214, PALB2, PDE4DIP, TPM4, TRAF7][actionable][cancer]----|
O22:24145566:24145566:-:CGATGGGexonicframeshift insertion:SMARCB1:NM_003073:exon5:c.585_586insCGATGGG:p.I195fs:atC, SMARCB1:NM_001007468:exon5:c.558_559insCGATGGG:p.I186fs:atC, SMARCB1NM_003073:I195fs, NM_001007468:I186fs, ----------601607;162091;609322;-------chr22:24145321-24145787:GM12878:101.46--Score=882;V$CDPCR1_01--------------nsv7350:OTHER(Inversion):PMID=18451855;dgv4906n71:CNV(Gain):PMID=21882294;esv2724041:CNV(Deletion):PMID=23290073;nsv526567:CNV(Gain):PMID=19592680-q11.23-----GATCGATG-11-TFP(POU2F2|chr22:24145017-24146068), TFP(POU2F2|chr22:24145042-24146040), TFP(POU2F2|chr22:24145204-24145847), TFP(TCF12|chr22:24145220-24145717), TFP(YY1|chr22:24144988-24145778), TFP(YY1|chr22:24145043-24145617), TFP(YY1|chr22:24145170-24145654)----Gm12878-SMARCB1:PHOS(0.276)PPI(0.990)REG(0.993)----SMARCB1(Coding)[TF_regulating_known_cancer_gene:ABL1, BCR, DDX5, EIF4A2, H3F3B, HIST1H3B, HIST1H4I, HNRNPA2B1, MALAT1, NDRG1, NUP214, PALB2, PDE4DIP, TPM4, TRAF7][actionable][cancer]----|
O2:242196126:242196126:-:CTGGATTTTGexonicframeshift insertion:HDLBP:NM_203346:exon6:c.546_547insCAAAATCCAG:p.T182fs:acC, HDLBP:NM_005336:exon6:c.546_547insCAAAATCCAG:p.T182fs:acC, HDLBP:NM_001243900:exon7:c.654_655insCAAAATCCAG:p.T218fs:acC, HDLBPNM_203346:T182fs, NM_005336:T182fs, NM_001243900:T218fs, ----------142695;----------Score=840;V$IRF1_01-------------PS50084 KH_TYPE_1 L=0:NM_005336:p.150-212:c.450-636--q37.3CAGE_peak_at_chr2:242196123..242196131;CAGE_peak_12_at_HDLBP_5end;+Score=0.000000;0.0398;0.5149;p12@HDLBP;p@chr2:242196123..242196131;+-----11----HDLBP---HDLBP:PHOS(0.459)PPI(0.866)REG(0.830)----HDLBP(Coding)----|
OF7:2979516:2979516:T:Gexonicnonsynonymous SNV:CARD11:NM_032415:exon6:c.A731C:p.K244T:aAg, CARD11NM_032415:K244T, TOLERATED:0.49(2.39)Benign:0.053Benign:0.112Disease Causing:1.000Low:1.795-3.742(19.00)Tolerated:1.340.654ID=COSM41658;OCCURENCE=1(HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)607210;-------------------------nsv464260:CNV(Gain):PMID=19166990;nsv887316:CNV(Loss):PMID=21882294-p22.2-------11--Yes3Yes5.67-------CARD11[actionable][cancer]---VA=1:CARD11:ENSG00000198286.5:-:nonsynonymous:1/1:CARD11-011:ENST00000396946.4:3465_731_244_K->T|
O9:21971126:21971126:-:AGexonicframeshift insertion:CDKN2A:NM_001195132:exon2:c.232_233insCT:p.L78fs:Ctc, CDKN2A:NM_000077:exon2:c.232_233insCT:p.L78fs:Ctc, CDKN2A:NM_058195:exon2:c.275_276insCT:p.S92fs:tCt, CDKN2ANM_001195132:L78fs, NM_000077:L78fs, NM_058195:S92fs, ----------600160;155720;151623;606719;155755;155601;-------chr9:21970815-21971655:NHDF-Ad:52.56-CpG: 35---------------nsv8426:CNV(Loss):PMID=18304495;nsv892745:CNV(Gain):PMID=21882294;nsv892746:CNV(Loss):PMID=21882294-p21.3CAGE_peak_32_at_CDKN2A_5endScore=74.000000;0.5319;p32@CDKN2A--ENSG00000147889-A3SS-1;ENSG00000147889-IR-1--11-DHS(MCV-6|chr9:21970985-21971135), Enhancer(chmm/segway|chr9:21970466-21971465), TFP(SP1|chr9:21967202-21971647), TFP(SUZ12|chr9:21964929-21971601)--CDKN2A---CDKN2A:PPI(0.934)REG(0.761)----CDKN2A(Coding&Medial)[pearson(H3K27ac):0.667541][DNA_repair][actionable][cancer]----|
DOF9:21971146:21971146:T:Aexonicnonsynonymous SNV:CDKN2A:NM_001195132:exon2:c.A212T:p.N71I:aAc, CDKN2A:NM_000077:exon2:c.A212T:p.N71I:aAc, CDKN2A:NM_058195:exon2:c.A255T:p.Q85H:caA, CDKN2ANM_001195132:N71I, NM_000077:N71I, NM_058195:Q85H, DAMAGING:0.00(2.43)DAMAGING:0.936DAMAGING:0.999Disease Causing:0.999Low:0.895-4.000(20.5)Tolerated:-1.08-ID=COSM13710;OCCURENCE=1(SKIN)600160;155720;151623;606719;155755;155601;-------chr9:21970815-21971655:NHDF-Ad:52.56-CpG: 35---------------nsv8426:CNV(Loss):PMID=18304495;nsv892745:CNV(Gain):PMID=21882294;nsv892746:CNV(Loss):PMID=21882294-p21.3CAGE_peak_24_at_CDKN2A_5endScore=48.000000;p24@CDKN2A;0.5191--ENSG00000147889-A3SS-1;ENSG00000147889-IR-1--10.5--Yes4Yes5.79--PPI&REG----CDKN2A[DNA_repair][actionable][cancer]---VA=1:CDKN2A:ENSG00000147889.12:-:nonsynonymous:12/13:CDKN2A-014:ENST00000579122.1:417_212_71_N->I:CDKN2A-001:ENST00000304494.5:471_212_71_N->I:CDKN2A-005:ENST00000494262.1:318_59_20_N->I:CDKN2A-006:ENST00000498628.2:318_59_20_N->I:CDKN2A-015:ENST00000578845.2:318_59_20_N->I:CDKN2A-202:ENST00000446177.1:504_212_71_N->I:CDKN2A-009:ENST00000498124.1:504_212_71_N->I:CDKN2A-008:ENST00000479692.2:366_59_20_N->I:CDKN2A-010:ENST00000497750.1:315_59_20_N->I:CDKN2A-201:ENST00000361570.3:522_378_126_Q->H:CDKN2A-013:ENST00000530628.2:399_255_85_Q->H:CDKN2A-004:ENST00000579755.1:399_255_85_Q->H|
OF9:21971176:21971176:T:Cexonicnonsynonymous SNV:CDKN2A:NM_001195132:exon2:c.A182G:p.E61G:gAg, CDKN2A:NM_000077:exon2:c.A182G:p.E61G:gAg, CDKN2ANM_001195132:E61G, NM_000077:E61G, DAMAGING:0.01(2.43)Benign:0.01Benign:0.015Polymorphism:1.000--2.201(13.32)Tolerated:-1.370.534ID=COSM13825;OCCURENCE=1(PANCREAS)600160;155720;151623;606719;155755;155601;-------chr9:21970815-21971655:NHDF-Ad:52.56-CpG: 35---------------nsv8426:CNV(Loss):PMID=18304495;nsv892745:CNV(Gain):PMID=21882294;nsv892746:CNV(Loss):PMID=21882294-p21.3----ENSG00000147889-A3SS-1;ENSG00000147889-IR-1--11--Yes3Yes-0.571--PPI&REG----CDKN2A[DNA_repair][actionable][cancer]---VA=1:CDKN2A:ENSG00000147889.12:-:nonsynonymous:9/13:CDKN2A-014:ENST00000579122.1:417_182_61_E->G:CDKN2A-001:ENST00000304494.5:471_182_61_E->G:CDKN2A-005:ENST00000494262.1:318_29_10_E->G:CDKN2A-006:ENST00000498628.2:318_29_10_E->G:CDKN2A-015:ENST00000578845.2:318_29_10_E->G:CDKN2A-202:ENST00000446177.1:504_182_61_E->G:CDKN2A-009:ENST00000498124.1:504_182_61_E->G:CDKN2A-008:ENST00000479692.2:366_29_10_E->G:CDKN2A-010:ENST00000497750.1:315_29_10_E->G, 1:CDKN2A:ENSG00000147889.12:-:synonymous:3/13:CDKN2A-201:ENST00000361570.3:522_348_116_G->G:CDKN2A-013:ENST00000530628.2:399_225_75_G->G:CDKN2A-004:ENST00000579755.1:399_225_75_G->G|
O9:21971186:21971186:-:Gexonicframeshift insertion:CDKN2A:NM_001195132:exon2:c.172_173insC:p.R58fs:Cga, CDKN2A:NM_000077:exon2:c.172_173insC:p.R58fs:Cga, CDKN2A:NM_058195:exon2:c.215_216insC:p.P72fs:cCg, CDKN2ANM_001195132:R58fs, NM_000077:R58fs, NM_058195:P72fs, ----------600160;155720;151623;606719;155755;155601;-------chr9:21970815-21971655:NHDF-Ad:52.56-CpG: 35---------------nsv8426:CNV(Loss):PMID=18304495;nsv892745:CNV(Gain):PMID=21882294;nsv892746:CNV(Loss):PMID=21882294-p21.3----ENSG00000147889-A3SS-1;ENSG00000147889-IR-1--11-DHS(MCV-6|chr9:21971165-21971315), Enhancer(chmm/segway|chr9:21970466-21971465), TFP(SP1|chr9:21967202-21971647), TFP(SUZ12|chr9:21964929-21971601)--CDKN2A---CDKN2A:PPI(0.934)REG(0.761)----CDKN2A(Coding&Medial)[pearson(H3K27ac):0.781363][DNA_repair][actionable][cancer]----|
O9:21971186:21971186:-:GCCACTCGexonicframeshift insertion:CDKN2A:NM_001195132:exon2:c.172_173insCGAGTGGC:p.R58fs:Cga, CDKN2A:NM_000077:exon2:c.172_173insCGAGTGGC:p.R58fs:Cga, CDKN2A:NM_058195:exon2:c.215_216insCGAGTGGC:p.P72fs:cCg, CDKN2ANM_001195132:R58fs, NM_000077:R58fs, NM_058195:P72fs, ----------600160;155720;151623;606719;155755;155601;-------chr9:21970815-21971655:NHDF-Ad:52.56-CpG: 35---------------nsv8426:CNV(Loss):PMID=18304495;nsv892745:CNV(Gain):PMID=21882294;nsv892746:CNV(Loss):PMID=21882294-p21.3----ENSG00000147889-A3SS-1;ENSG00000147889-IR-1--11-DHS(MCV-6|chr9:21971165-21971315), Enhancer(chmm/segway|chr9:21970466-21971465), TFP(SP1|chr9:21967202-21971647), TFP(SUZ12|chr9:21964929-21971601)--CDKN2A---CDKN2A:PPI(0.934)REG(0.761)----CDKN2A(Coding&Medial)[pearson(H3K27ac):0.781363][DNA_repair][actionable][cancer]----|
OF9:21974696:21974696:T:Gexonicnonsynonymous SNV:CDKN2A:NM_001195132:exon1:c.A131C:p.Y44S:tAc, CDKN2A:NM_000077:exon1:c.A131C:p.Y44S:tAc, CDKN2A:NM_058197:exon1:c.A131C:p.Y44S:tAc, CDKN2ANM_001195132:Y44S, NM_000077:Y44S, NM_058197:Y44S, TOLERATED:0.37(2.43)Benign:0.421Probably DAMAGING:0.902Polymorphism:1.000Low:1.13-3.750(19.04)Deleterious:-2.910.548ID=COSM20969;OCCURENCE=1(HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)600160;155720;151623;606719;155755;155601;-------chr9:21974249-21974765:HeLa-S3:26.33-CpG: 63---------------nsv8426:CNV(Loss):PMID=18304495;nsv892745:CNV(Gain):PMID=21882294;nsv892746:CNV(Loss):PMID=21882294-p21.3----ENSG00000147889-AFE-5;ENSG00000147889-AFE-1;ENSG00000147889-AFE-7;ENSG00000147889-CE-2;ENSG00000147889-CE-3;ENSG00000147889-AFE-2;ENSG00000147889-AFE-4;ENSG00000147889-AFE-9;ENSG00000147889-AFE-3;ENSG00000147889-AFE-8--11--Yes3Yes-3.18--PPI&REG----CDKN2A[DNA_repair][actionable][cancer]---VA=1:CDKN2A:ENSG00000147889.12:-:nonsynonymous:5/13:CDKN2A-014:ENST00000579122.1:417_131_44_Y->S:CDKN2A-001:ENST00000304494.5:471_131_44_Y->S:CDKN2A-202:ENST00000446177.1:504_131_44_Y->S:CDKN2A-009:ENST00000498124.1:504_131_44_Y->S:CDKN2A-003:ENST00000380151.3:351_131_44_Y->S|
O9:21974746:21974746:-:CGexonicframeshift insertion:CDKN2A:NM_001195132:exon1:c.81_82insCG:p.E27fs:gaG, CDKN2A:NM_000077:exon1:c.81_82insCG:p.E27fs:gaG, CDKN2A:NM_058197:exon1:c.81_82insCG:p.E27fs:gaG, CDKN2ANM_001195132:E27fs, NM_000077:E27fs, NM_058197:E27fs, ----------600160;155720;151623;606719;155755;155601;-------chr9:21974249-21974765:HeLa-S3:26.33-CpG: 63---------------nsv8426:CNV(Loss):PMID=18304495;nsv892745:CNV(Gain):PMID=21882294;nsv892746:CNV(Loss):PMID=21882294-p21.3----ENSG00000147889-AFE-5;ENSG00000147889-AFE-1;ENSG00000147889-AFE-7;ENSG00000147889-CE-2;ENSG00000147889-CE-3;ENSG00000147889-AFE-2;ENSG00000147889-AFE-4;ENSG00000147889-AFE-9;ENSG00000147889-AFE-3;ENSG00000147889-AFE-8--11-DHS(MCV-53|chr9:21974705-21974855), Enhancer(chmm/segway|chr9:21974200-21975847), Enhancer(chmm/segway|chr9:21974278-21974838), Enhancer(chmm/segway|chr9:21974335-21975733), Enhancer(chmm/segway|chr9:21974400-21974827), TFP(CTBP2|chr9:21973996-21975634), TFP(EGR1|chr9:21974296-21975653), TFP(EGR1|chr9:21974479-21975640), TFP(ELK4|chr9:21974427-21975250), TFP(GABPA|chr9:21974481-21975322), TFP(MYC|chr9:21974207-21975396), TFP(SP1|chr9:21974300-21975739), TFP(SUZ12|chr9:21973642-21976348), TFP(TAF1|chr9:21974344-21975827), TFP(TCF12|chr9:21974354-21975932), TFP(TFAP2A|chr9:21974178-21975277), TFP(TFAP2C|chr9:21974140-21975625), TFP(YY1|chr9:21974483-21975737), TFP(ZNF263|chr9:21974195-21975983)--CDKN2A-H1hesc-CDKN2A:PPI(0.934)REG(0.761)----CDKN2A(Coding&Medial)[spearman(H3K27ac):0.842511, pearson(H3K27ac):0.946367][DNA_repair][actionable][cancer]----|
DOF9:21974786:21974786:T:Aexonicnonsynonymous SNV:CDKN2A:NM_001195132:exon1:c.A41T:p.D14V:gAc, CDKN2A:NM_000077:exon1:c.A41T:p.D14V:gAc, CDKN2A:NM_058197:exon1:c.A41T:p.D14V:gAc, CDKN2ANM_001195132:D14V, NM_000077:D14V, NM_058197:D14V, DAMAGING:0.02(2.49)DAMAGING:0.955DAMAGING:0.999Disease Causing:1.000Medium:2.39-3.627(18.45)Tolerated:-0.950.689ID=COSM13793;OCCURENCE=1(UPPER_AERODIGESTIVE_TRACT)600160;155720;151623;606719;155755;155601;-------chr9:21974760-21975304:HeLa-S3:72.36-CpG: 63---------------nsv8426:CNV(Loss):PMID=18304495;nsv892745:CNV(Gain):PMID=21882294;nsv892746:CNV(Loss):PMID=21882294-p21.3----ENSG00000147889-AFE-5;ENSG00000147889-AFE-1;ENSG00000147889-AFE-7;ENSG00000147889-CE-2;ENSG00000147889-CE-3;ENSG00000147889-AFE-2;ENSG00000147889-AFE-4;ENSG00000147889-AFE-9;ENSG00000147889-AFE-3;ENSG00000147889-AFE-8--11--Yes4Yes4.89--PPI&REG----CDKN2A[DNA_repair][actionable][cancer]---VA=1:CDKN2A:ENSG00000147889.12:-:nonsynonymous:5/13:CDKN2A-014:ENST00000579122.1:417_41_14_D->V:CDKN2A-001:ENST00000304494.5:471_41_14_D->V:CDKN2A-202:ENST00000446177.1:504_41_14_D->V:CDKN2A-009:ENST00000498124.1:504_41_14_D->V:CDKN2A-003:ENST00000380151.3:351_41_14_D->V|
O9:21994216:21994216:-:GGCGCexonicframeshift insertion:CDKN2A:NM_058195:exon1:c.115_116insGCGCC:p.A39fs:Gcg, CDKN2ANM_058195:A39fs, ----------600160;-------chr9:21993961-21994452:H1-hESC:59.05-CpG: 176--hsa-miR-1469;hsa-miR-331-3p;hsa-miR-139-5p;hsa-miR-632;hsa-miR-609;hsa-miR-449a;hsa-miR-512-3p;hsa-miR-1184;hsa-miR-342-5p;hsa-miR-34c-5p;hsa-miR-449b;hsa-miR-27a;hsa-miR-885-3p;hsa-miR-34a;hsa-miR-886-3p;hsa-miR-296-3p;hsa-miR-636------------nsv892747:CNV(Gain):PMID=21882294;nsv8426:CNV(Loss):PMID=18304495;nsv892745:CNV(Gain):PMID=21882294;nsv892746:CNV(Loss):PMID=21882294-p21.3----ENSG00000147889-AFE-5;ENSG00000147889-AFE-1;ENSG00000147889-II-3;ENSG00000147889-AFE-6;ENSG00000147889-CE-3;ENSG00000147889-AFE-4;ENSG00000147889-AFE-9;ENSG00000147889-AFE-3;ENSG00000147889-AFE-8--11-Enhancer(chmm/segway|chr9:21993461-21994488), Enhancer(chmm/segway|chr9:21993809-21996000), TFP(CEBPB|chr9:21993452-21995279), TFP(CTCF|chr9:21993863-21996052), TFP(CTCF|chr9:21993942-21996168), TFP(CTCF|chr9:21994123-21996192), TFP(CTCF|chr9:21994148-21995985), TFP(CTCF|chr9:21994156-21996072), TFP(CTCF|chr9:21994159-21995423), TFP(CTCF|chr9:21994172-21995227), TFP(CTCF|chr9:21994179-21995999), TFP(CTCF|chr9:21994184-21996090), TFP(CTCF|chr9:21994184-21996181), TFP(CTCF|chr9:21994186-21994969), TFP(CTCF|chr9:21994190-21996142), TFP(CTCF|chr9:21994191-21996033), TFP(CTCF|chr9:21994193-21996180), TFP(CTCF|chr9:21994193-21996245), TFP(CTCF|chr9:21994194-21996242), TFP(CTCF|chr9:21994196-21995314), TFP(CTCF|chr9:21994197-21995355), TFP(CTCF|chr9:21994198-21995484), TFP(CTCF|chr9:21994204-21995228), TFP(CTCF|chr9:21994204-21996213), TFP(CTCF|chr9:21994205-21996086), TFP(CTCF|chr9:21994212-21994938), TFP(CTCF|chr9:21994215-21996060), TFP(CTCF|chr9:21994215-21996213), TFP(CTCF|chr9:21994216-21996191), TFP(E2F1|chr9:21993736-21996126), TFP(E2F1|chr9:21994052-21996045), TFP(E2F1|chr9:21994088-21996017), TFP(E2F4|chr9:21994215-21995983), TFP(EBF1|chr9:21994123-21994559), TFP(EGR1|chr9:21993319-21996177), TFP(ELF1|chr9:21993477-21996233), TFP(GATA3|chr9:21993452-21995178), TFP(HDAC2|chr9:21994065-21995937), TFP(MAX|chr9:21993461-21996399), TFP(MXI1|chr9:21993404-21996752), TFP(MYC|chr9:21993687-21996317), TFP(MYC|chr9:21993713-21996416), TFP(POU2F2|chr9:21993476-21996127), TFP(RFX5|chr9:21993299-21995441), TFP(SMARCB1|chr9:21993469-21996263), TFP(SMC3|chr9:21993408-21996563), TFP(SRF|chr9:21994123-21996250), TFP(TAF1|chr9:21993108-21996555), TFP(TBP|chr9:21993093-21995427), TFP(TCF12|chr9:21992793-21994389), TFP(TCF12|chr9:21993884-21995561), TFP(TCF4|chr9:21993843-21996420), TFP(YY1|chr9:21993508-21995981), TFP(YY1|chr9:21993644-21996047), TFP(YY1|chr9:21993762-21995969), TFP(ZEB1|chr9:21993492-21994901)--CDKN2A, MTAP--MOTIFG=E2F_known4#GGCGCG#6#+#6.852, HEY1_disc2#GCGGCGGGCGCGGCGC#16#+#8.669CDKN2A:PPI(0.934)REG(0.761), MTAP:PPI(0.606)----CDKN2A(Coding&Medial)[spearman(H3K27ac):0.839412, pearson(H3K27ac):0.875029][DNA_repair][actionable][cancer], MTAP(Medial)[pearson(H3K27ac):0.75864]----
In this tab is a gene summary of your variant dataset. All genes were scored on several categories, based on the selections made on the input page. All variants in a genic region are evaluated regardless of the variant produced a nonsynonymous protein change; however, only those genes with at least one "Y" designation in the #CAT column are shown. The "#CAT" column is the number of "hits" to a specific category that were found for that gene. The column "#NS" will allow users to sort the dataset for the number of nonsynonymous variants by gene. Click on headers to sort column.

Click on the CyP column to view UniProt visualizations using CyPRUS, a custom protein visualization tool.


| More Info


Analysis with 33 of 33 total genes.

Gene#CAT#NSCyPSPLPSACOSDIOMIMTNCENCMOTDGVPTMFS2PPIACTMDV
CDKN2A149Y YYYYYYYYYNYYYY
RAP1GAP111Y YYYYYNYYYNYYNN
ABCC9111Y YYYYYNYYYNYYNN
KRAS112Y YYYYYNNNYNYYYY
PPFIBP2101Y YNYYYNYYYYNYNN
SMARCB192Y NNYYYNYYYNNYYN
TAF1281Y NYYYYNNYNNYYNN
ZNF55581Y NYYYNNYYYNYNNN
MMP1181Y YYYYYNNYYNNNNN
PDCD1171Y NNYYYNNYYNNYNN
BBOX171Y YNYYYNNYYNNNNN
USH2A71Y NYYYYNNNYNYNNN
NF171Y NNNYYNNYYNNYYN
ZNF25771Y YNYYYNYNYNNNNN
CYP27A171Y YYYYYNNYNNNNNN
ABCB161Y NNNYYYNYYNNNNN
COL17A161Y NNYYYNYNNNNYNN
OR2L261Y YYYYNNNNYNNNNN
ZNF9161Y NYYYYNNNYNNNNN
CRNKL161Y YNYYYNNNNNNYNN
CARD1161Y NNYYYNNNYNNNYN
PDE3A50NNNYYYNNYYNNNNN
FLT351Y NNYYYNNNNNNNYN
DSG151Y NNYYYNNNYNNNNN
ZNF79151Y NNYYNNYYNNNNNN
ZNF9350NYNNYYNYNYNNNNN
HDLBP51Y NNNYYNNYNNNYNN
NAV240NNNYYYNNNYNNNNN
PYROXD140NYNYYNNNNYNNNNN
ZNF71440NYNYYNNNNYNNNNN
ZNF72941Y NNYYNNNNYNNNNN
ZNF9930NNNNYYNNNYNNNNN
WASH7P20NNNNNNYNNYNNNNN


Key:
#CATCount of hits in each category by gene
#NSNumber of variants in the gene with nonsynonymous protein annotations
CyPView variants in Protein Features using CyPRUS
SPLOne or more variants in this gene is in a splice site
PSAOne or more variants in this gene had at least 2 damaging calls from the Protein Scoring Algorithms, SIFT, Polyphen2 (hvar), Mutation Taster or Mutation Assessor or Provean
COSOne or more variants in this gene was flagged by the COSMIC database
DIGene has associated Diseases from OMIM, KEGG, or COSMIC
OMIMThis gene is identified in Online Mendelian Inheritance in Man
TNCOne or more variants in this gene was identified as a target for ncRNAs
ENCOne or more variants in this gene has a hit in the ENCODE databases
MOTOne or more variants in this gene is in a regulatory motif
DGVOne or more variant in this gene was flagged in the Database for Genomic Variants
PTMOne or more variant in this gene is in a site for post-translational modification
FS2One or more variants in this gene had a coding prioritization score >=4, or non-coding score >1.5, as determined by FunSeq2
PPIOne or variants in this gene has been identified to be important protein-protein interaction
ACTGene Identified by FunSeq2 as an actionable
MDVMore than one variant in this gene were considered damaging by two or more of the protein scoring algorithms


In this tab, you will explore functional annotations and annotation clustering using the Database for Annotation, Visualization and Integrated Discovery (DAVID) tool.

Please cite our DAVID contributors at Nature Protocols 2009; 4(1):44 & Nucleic Acids Res. 2009;37(1):1



Select your DAVID analysis below: Click for help
        


Only genes with consequence will be uploaded to DAVID. If you wish to use the complete gene list or genes with variants in the coding regions only, then download the file(s) below and visit the DAVID server by clicking on the "Go to DAVID website" button.


Analysis with 29 of 33 total genes.

Gene list (Gene_id)









Please click on a button above to run/view a DAVID Cluster analysis or ontology based on your gene list. Below is a brief summary of each option taken from the DAVID website. For more information, please click on the "Click for more help" above to link directly to the DAVID Q&A page.



Gene Cluster
  • Grouping genes based on functional similarity can systematically enhance biological interpretation of large lists of genes derived from high throughput studies. The Functional Classification Tool generates a gene-to-gene similarity matrix based shared functional annotation using over 75,000 terms from 14 functional annotation sources. The Functional Classification Tool provides a rapid means to organize large lists of genes into functionally related groups to help unravel the biological content captured by high throughput technologies.
Term Cluster
  • Due to the redundant nature of annotations, (Term) Functional Annotation Chart presents similar/relevant annotations repeatedly. It dilutes the focus of the biology in the report.

    The Group Enrichment Score new! , the geometric mean (in -log scale) of member's p-values in a corresponding annotation cluster, is used to rank their biological significance. Thus, the top ranked annotation groups most likely have consistent lower p-values for their annotation members.
Chart Report
  • A view of a single gene and its general annotations/accessions from multiple resources. It can quickly give a global idea about the gene.


In this tab, below is a table of exonic mutations types by gene with gene descriptions.

GeneGene Descriptionnonsynonymous SNVstopgain SNVstoploss SNVsynonymous SNVnonframeshift indel/substitutionframeshift indel/substitutionunknown
ABCB1ATP-binding cassette, sub-family B (MDR/TAP), member 11000000
ABCC9ATP-binding cassette, sub-family C (CFTR/MRP), member 91000000
BBOX1butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 11000000
CARD11caspase recruitment domain family, member 111000000
CDKN2Acyclin-dependent kinase inhibitor 2A4000050
COL17A1collagen, type XVII, alpha 10000010
CRNKL1crooked neck pre-mRNA splicing factor 11000000
CYP27A1cytochrome P450, family 27, subfamily A, polypeptide 11000000
DSG1desmoglein 11000000
FLT3fms-related tyrosine kinase 31000000
HDLBPhigh density lipoprotein binding protein0000010
KRASKirsten rat sarcoma viral oncogene homolog2000000
MMP11matrix metallopeptidase 11 (stromelysin 3)1000000
NAV2neuron navigator 20001000
NF1neurofibromin 10000010
OR2L2olfactory receptor, family 2, subfamily L, member 21000000
PDCD11programmed cell death 110000010
PDE3Aphosphodiesterase 3A, cGMP-inhibited0001000
PPFIBP2PTPRF interacting protein, binding protein 2 (liprin beta 2)0000010
PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 10001000
RAP1GAPRAP1 GTPase activating protein1000000
SMARCB1SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 10000020
TAF12TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa1000000
USH2AUsher syndrome 2A (autosomal recessive, mild)1000000
ZNF257zinc finger protein 2571000000
ZNF555zinc finger protein 5551000000
ZNF714zinc finger protein 7140001000
ZNF729zinc finger protein 7291000000
ZNF791zinc finger protein 7910000010
ZNF91zinc finger protein 911000000
ZNF93zinc finger protein 930001000


Analysis with 31 protein coding gene(s) with exonic mutations of 33 total genes.



In this tab, you will see graphic summary of your variant data. If you selected SIFT, Polyphen2 AND dbSNP, you will see a thumbnail of a VENN diagram and pie chart. The VENN diagram shows the intersection of variations with SIFT scores, polyphen2 scores, and not found in dbSNP, given that these were specified during submission. The Circos plots shows the counts of genic mutations per 10KB bin. The pie chart shows the distribution of exonic variant types. Also, if your data is small, there may be a link to Genemania, a web-based cytoscape visualization to help predict the function of your gene list. This gene list is usually derived from mutations in the coding region of your input data set.

DescriptionImage
Pie chart of Coding Variants in the data (after gene filtering)
Plot density using Circos for data.

Click to view and rearrange circos plots.
GeneMANIA Network Visualization
Visualization of amino acid positions in protein context using jsmol based on input nonsynonymous variants
Click on any image to view. Right click on any image to save it.


In this tab, we have obtained normal tissues expression values of all probes from Genomics Institute of the Novartis Research Foundation (GNF) Gene Expression Database. For each tissue type, we ranked all of the expression values and assigned a value of low, medium, or high based on its rank. For any gene with multiple probes, we used the highest rank.



Analysis with all of 33 total genes.

Select your tissue source
In this tab you can view gene ontology categories for your gene.



Analysis with all of 33 total genes.

Select a Gene:


Below are the KEGG pathways with genes in your gene list. Genes are highlighed with states, each of the states (one tile within the gene) represent the value of the protein prediction algorithms, e.g. SIFT, Polyphen2, Mutation Accessor and Mutation Taster), Score for FunSeq2 and COSMIC. Select a pathway from the drop down menu to begin. Hover over any colored gene to view the most damaging scores for that gene; click to view more gene information from KEGG.





Please select a pathway


In this tab, you will see the configuration for which databases were used and various other data collected from the input page. This is where you will find which AVIA version used. Scroll to the bottom of the Config tab for download buttons. These parameters and database versions are also included in the "Download All Data" button above.

user.date=20150224102455

user.label=sampledata

aviaver=v2.0_201312

user.file=user.file=sampledata.txt

user.wastyped=1

user.internal=0

user.modulesid=3

typed.ct=1

user.inputformat=bed

ref.ver=hg19

user.email=<YOUR EMAIL ADDRESS>

report.annotdb_siftv63=on

report.annotdb_ljb26_pp2hvar=on

report.annotdb_ljb26_pp2hdiv=on

report.annotdb_ljb26_mt=on

report.annotdb_ljb26_ma=on

report.annotdb_Provean_v1_1=on

report.annotdb_ljb26_cadd=on

report.annotdb_ljb26_fathmm=on

report.annotdb_ljb26_vest=on

report.annotdb_cosmic70=on

report.annotdb_omimGene=on

report.annotdb_clinvar_20140702=on

report.annotdb_wgRna=on

report.annotdb_HMDD=on

report.annotdb_lincRNA=on

report.annotdb_lncipedia=on

report.annotdb_SomamiR=on

report.annotdb_VISTA_enhancer=on

report.annotdb_wgEncodeAwgTfbsUniform=on

report.annotdb_wgEncodeMethylRrbs=on

report.annotdb_cpgIslandExt=on

report.annotdb_tfbsConsSites=on

report.annotdb_targetScanS=on

report.annotdb_microPIR_targets=on

report.annotdb_SomamiR_targets=on

report.annotdb_VISTA_enhancer_expr_data=on

report.annotdb_snp138=on

report.annotdb_cg69=on

report.annotdb_1000gALL_sites_2014_09=on

report.annotdb_hapmap_3_3=on

report.annotdb_gwasCatalog=on

report.annotdb_nci60=on

report.annotdb_ESP6500si_all=on

report.annotdb_nonB=on

report.annotdb_genomicSuperDups=on

report.annotdb_prosite_domains=on

report.annotdb_dgvMerged=on

report.annotdb_rptMask=on

report.annotdb_cytoBand=on

report.annotdb_Fantom5_CAGE_peak=on

report.annotdb_Fantom5_TSSpredictions=on

report.annotdb_Fantom5_enhancers=on

report.annotdb_PTM=on

report.annotdb_alt_splice=on

report.annotdb_ESEFinder=on

report.annotdb_tassdb=on

report.annotdb_wgEncodeCrgMapabilityAlign100mer=on

report.annotdb_wgEncodeDukeMapabilityUniqueness35bp=on

report.annotdb_wgEncodeDukeMapabilityRegionsExcludable=on

user.runpathview=on

report.annotdb_FunSeq2=on

webuser=1