VARIANT RANKER RESULTS

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Chr Start End Ref Alt Func_refGene Gene_refGene GeneDetail_refGene ExonicFunc_refGene Func_ensGene Gene_ensGene GeneDetail_ensGene ExonicFunc_ensGene phastConsElements46way gwasCatalog cytoband tfbsConsSites wgEncodeRegTfbsClustered wgEncodeRegDnaseClustered evofold snp138 1000g2014sep_all 1000g2014sep_eur 1000g2014sep_eas 1000g2014sep_amr 1000g2014sep_afr 1000g2014sep_sas ExAC popfreq_max SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred RadialSVM_score RadialSVM_pred LR_score LR_pred CADD_raw CADD_phred GERP_RS phyloP46way_placental phyloP100way_vertebrate SiPhy_29way_logOdds cadd caddgt10 avsift esp6500_ea esp6500_aa cosmic67 cg69 clinvar_20140929 rank_score
1155264120155264120CGexonicPKLRNAnonsynonymous SNVexonicENSG00000143627NAnonsynonymous SNVScore=487;Name=lod=127NA1q22NANANANANANANANANANANANANA0.02D1.0D0.998D0.000D1.000D3.015M-7.15D0.962D0.993D4.8327.44.942.7237.56216.0464.8298214.8298210.02NANANANANA21.3333334
125756933957569339GAexonicLRP1NAnonsynonymous SNVexonicENSG00000123384NAnonsynonymous SNVScore=502;Name=lod=146NA12q13.3Score=754;Name=V$HEN1_02NAName=133NArs358904090.001797120.005NA0.00290.00080.0010.00350.00451T1.0D0.998D0.000D1.000D1.525L-3.96D0.658D0.877D3.32417.183.942.5373.21415.3023.3235443.3235440.10.0045350.001589NANANA20.3202984
117843374678433746GAexonicTENM4NAnonsynonymous SNVexonicENSG00000149256NAnonsynonymous SNVScore=586;Name=lod=321NA11q14.1NANANANANANANANANANANANANA..0.518P0.115B0.000D1.000D2.08M-2.58D0.134D0.625D4.13121.35.642.9379.39719.8954.1314774.1314770.03NANANANANA18.8333334
176149757761497577GAexonicTANC2NAnonsynonymous SNVexonicENSG00000170921NAnonsynonymous SNVScore=604;Name=lod=381NA17q23.3NAName=ZBTB7A_(SC-34508)Name=3NANANANANANANANA0NA0.03D0.992D0.905P0.000D1.000D0.345N-0.44T-0.430T0.283T4.74226.54.391.2179.47615.0734.7417084.7417080NANANANANA18.8333334
117843375378433753TCexonicTENM4NAnonsynonymous SNVexonicENSG00000149256NAnonsynonymous SNVScore=586;Name=lod=321NA11q14.1NANANANANANANANANANANANANA..0.913P0.891P0.000D1.000D0.935L-2.66D0.430D0.727D4.66225.75.642.3677.65916.0244.6622264.6622260.07NANANANANA18.3333334
1155260382155260382CTexonicPKLRNAnonsynonymous SNVexonicENSG00000143627NAnonsynonymous SNVScore=594;Name=lod=347NA1q22NANANANArs617554310.0005990420.003NANANANA0.0010.0040.05D0.982D0.428B0.000D1.000D1.845L-5.52D0.903D0.897D3.93420.14.542.5134.7058.7033.9342723.9342720.040.0016280NANANA18.3277054
152286436922864369GAexonicTUBGCP5NAnonsynonymous SNVexonicENSG00000153575NAnonsynonymous SNVScore=336;Name=lod=31NA15q11.2Score=787;Name=V$CMYB_01NANANArs138440581NANANANANANA0.00020.00020.06T1.0D0.994D0.000D1.000D1.5L3.1T-1.178T0.046T3.8919.773.110.8095.2819.9993.889773.889770.020.0002330.000227NANANA15.3329004
62940857129408571GTexonicOR10C1NAnonsynonymous SNVexonicENSG00000206474NAnonsynonymous SNVScore=325;Name=lod=28NA6p22.1NANANANArs145984332NANANANANANA0.00040.00060.03D1.0D0.996D0.026N1.000N2.335M1.24T-1.012T0.139T2.95115.843.351.716-0.15012.2752.9513062.95130600.0005540.000331NANANA14.3323794
1931798843179884GTexonicS1PR4NAnonsynonymous SNVexonicENSG00000125910NAnonsynonymous SNVNANA19p13.3NAName=NRSFName=6NArs37460720.007587860.0040.01880.0072NA0.01020.00730.0220.52T0.956P0.421B0.430N1.000N0.895L-1.51D-0.848T0.191T0.5767.1113.942.0531.19611.5740.576106NA0.120.0072330.000927NA0.014NA13.8148004
176141756061417560GTexonicTANC2NAnonsynonymous SNVexonicENSG00000170921NAnonsynonymous SNVScore=371;Name=lod=43NA17q23.3Score=917;Name=V$TGIF_01NANANANANANANANANANA0.000008282NA0.05D0.074B0.085B0.000D0.985D1.04L-0.39T-0.900T0.171T2.02412.721.650.5870.7036.9122.0235542.0235540.01NANANANANA13.3333251
146468725864687258ATexonicSYNE2NAnonsynonymous SNVexonicENSG00000054654NAnonsynonymous SNVNANA14q23.2NAName=MafF_(M8194),MafK_(ab50322),MafK_(SC-477)Name=21NArs1499785000.001397760.004NA0.0029NA0.0010.00220.0110D0.313B0.292B0.819N1.000D1.95M0.55T-0.893T0.176T0.4616.5042.370.1470.9244.7140.461194NA00.0026740.000681NA0.007NA13.3244594
62940860029408600GTexonicOR10C1NAnonsynonymous SNVexonicENSG00000206474NAnonsynonymous SNVNANA6p22.1NANANANArs724820890.002795530.005NA0.013NANA0.00370.010.01D1.0D1.0D0.001N0.797N3.27M8.42T-1.020T0.001T2.71615.043.541.8120.2488.9312.7158952.71589500.0025840.000993NANANA13.3220494
16320583320583CTexonicRGS11NAnonsynonymous SNVexonicENSG00000076344NAnonsynonymous SNVNANA16p13.3Score=809;Name=V$TAXCREB_02NANANArs727658280.001597440.008NANANANA0.00210.010D0.975D0.659P0.235N1.000N0.55N4.54T-0.938T0.005T2.98115.94-2.8-0.585-1.0275.2772.9810642.9810640.010.0019770.000455NA0.036NA12.8212564
149408873494088734GAexonicUNC79NAnonsynonymous SNVexonicENSG00000133958NAnonsynonymous SNVScore=300;Name=lod=22NA14q32.12NANANANANANANANANANANA0.000008273NA0.36T0.003B0.003B0.014N0.885N0.205N2.18T-1.056T0.027T-0.4112.0825.062.3514.0299.266-0.410584NA0.17NANANANANA12.3333251
1931794273179427GAexonicS1PR4NAnonsynonymous SNVexonicENSG00000125910NAnonsynonymous SNVScore=313;Name=lod=25NA19p13.3NAName=ELF1_(SC-631),Pol2Name=12NArs1439646990.002595850.008NA0.0043NA0.0020.00640.010.69T0.676P0.202B0.075N0.817N0.46N-0.63T-0.979T0.087T-1.520.0161.220.7472.4353.784-1.519933NA10.004070.001589NANANA11.8148634
152285378622853786CTexonicTUBGCP5NAnonsynonymous SNVexonicENSG00000153575NAnonsynonymous SNVScore=436;Name=lod=79NA15q11.2NANANANArs139868545NANANANANANA0.00030.00130.42T0.921P0.5P0.002N0.755D0.69N3.35T-0.881T0.014T1.8512.151.580.0411.5578.4581.8502861.8502860.220.0003490.000227NANANA11.3326844
16320629320629CTexonicRGS11NAnonsynonymous SNVexonicENSG00000076344NAnonsynonymous SNVScore=496;Name=lod=138NA16p13.3NANANANArs776540340.001597440.008NANANANA0.00220.011T0.325B0.252B0.000N1.000D0.36N4.65T-0.882T0.003T0.2725.473.150.6802.1939.9670.271703NA10.0020930.000456NA0.036NA11.3210404
149408826694088266GAexonicUNC79NAnonsynonymous SNVexonicENSG00000133958NAnonsynonymous SNVScore=361;Name=lod=39NA14q32.12NANANANArs784900740.001397760.005NA0.0014NA0.0010.00360.010.72T0.001B0.002B0.000N0.512N0.895L2.18T-1.038T0.024T0.9368.8154.160.8655.28112.2730.936078NA0.50.0034880.000908NANANA10.3212454
177644771376447713CAexonicDNAH17NAnonsynonymous SNVexonicENSG00000187775NAnonsynonymous SNVNANA17q25.3NANANANArs1407479820.000599042NANANANA0.00310.00090.00061T0.0B0.001B0.352N1.000N-1.2N1.8T-1.057T0.014T-1.5470.015-10.4-2.995-2.2507.701-1.546869NA10.0005810.000227NANANA9.3318524
125344567753445677TCexonicTENC1NAsynonymous SNVexonicENSG00000111077NAsynonymous SNVScore=569;Name=lod=275NA12q13.13Score=796;Name=V$STAT1_01Name=CEBPBNANArs1470858020.003594250.006NA0.00720.00080.00610.00370.01NANANANANANANANANANANANANANANANANANANANANANANANA1.7803081.780308NA0.0050.001362NANANA8.6519666
125345758553457585CTexonicTENC1NAsynonymous SNVexonicENSG00000111077NAsynonymous SNVScore=623;Name=lod=455NA12q13.13NAName=CTCFNANArs1179282580.003194890.0089NA0.0072NA0.0020.00590.01NANANANANANANANANANANANANANANANANANANANANANANANA0.851055NANA0.0080230.001816NANANA7.6438436
125756077757560777GAexonicLRP1NAsynonymous SNVexonicENSG00000123384NAsynonymous SNVNANA12q13.3NANANANANANANANANANANA0.00006593NANANANANANANANANANANANANANANANANANANANANANANANANA0.685704NANANANANANANA6.6666007
177655799476557994TCexonicDNAH17NAsynonymous SNVexonicENSG00000187775NAsynonymous SNVNANA17q25.3Score=772;Name=V$PAX6_01NANANArs1397041860.0005990420.002NANA0.0008NA0.00340.0055NANANANANANANANANANANANANANANANANANANANANANANANA1.000386NANA0.0054650.000454NANANA6.6558016
146454819364548193TCexonicSYNE2NAsynonymous SNVexonicENSG00000054654NAsynonymous SNVNANA14q23.2NAName=STAT3,MafK_(ab50322)NANArs1493913440.001996810.0089NANANA0.0010.00370.011NANANANANANANANANANANANANANANANANANANANANANANANA-0.803677NANA0.0037210.001362NA0.007NA6.6503456
177917196679171966CTexonicAZI1NAsynonymous SNVexonicENSG00000141577NAsynonymous SNVScore=340;Name=lod=32NA17q25.3NANANANArs1178916550.002196490.007NA0.0058NANA0.00780.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.423398NANA0.0047830.001148NANANA6.6470836
177918276979182769GAexonicAZI1NAsynonymous SNVexonicENSG00000141577NAsynonymous SNVScore=431;Name=lod=75NA17q25.3NANANANArs1470132500.002396170.0109NA0.0014NANA0.00580.01NANANANANANANANANANANANANANANANANANANANANANANANA-0.969591NANA0.0083720.00227NANANA6.6415946
109791627297916272CTexonicZNF518ANAunknownncRNA_exonicENSG00000177853NANAScore=500;Name=lod=144NA10q24.1NANANANArs2002995870.0001996810.001NANANANA0.00050.001NANANANANANANANANANANANANANANANANANANANANANANANA2.4713952.47139500.0009830NANANA5.8308503
109791755697917556GCexonicZNF518ANAunknownncRNA_exonicENSG00000177853NANAScore=278;Name=lod=18NA10q24.1NANANANArs412916020.0005990420.002NANANA0.0010.00290.0034NANANANANANANANANANANANANANANANANANANANANANANANA0.569141NA00.0034170.001084NANANA5.8250163
Chromosomal distribution