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Copy pathblog_spotlight_variants_annovar.txt
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blog_spotlight_variants_annovar.txt
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Chr Start End Ref Alt Func.ensgene Gene.ensgene ExonicFunc.ensgene AAChange.ensgene phastConsElements46way esp6500si_all 1000g2012apr_all snp138 SIFT_score SIFT_score_converted SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_score_converted LRT_pred MutationTaster_score MutationTaster_score_converted MutationTaster_pred MutationAssessor_score MutationAssessor_score_converted MutationAssessor_pred FATHMM_score FATHMM_score_converted FATHMM_pred RadialSVM_score RadialSVM_score_converted RadialSVM_pred LR_score LR_pred GERP++_RS phyloP 29way_logOdds genomicSuperDups Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo
7 117120154 117120154 - T exonic ENSG00000001626 frameshift insertion ENSG00000001626:ENST00000003084:exon1:c.6_7insT:p.Q2fs,ENSG00000001626:ENST00000426809:exon1:c.6_7insT:p.Q2fs,ENSG00000001626:ENST00000454343:exon1:c.6_7insT:p.Q2fs Score=452;Name=lod=92 het 7 117120154 . A AT . . . GT 0/1
7 117105836 117105838 TTT - intergenic ENSG00000214684(dist=25002),ENSG00000001626(dist=13520) het 7 117105835 . TTTT T . . . GT 0/1
7 117307160 117307160 T - exonic ENSG00000001626 stoploss SNV ENSG00000001626:ENST00000454343:exon26:c.4258delT:p.X1420R,ENSG00000001626:ENST00000003084:exon27:c.4441delT:p.X1481R Score=321;Name=lod=27 het 7 117307159 . TT T . . . GT 0/1
7 117119513 117119513 - A intronic ENSG00000001626 het 7 117119513 . C CA . . . GT 0/1
7 117144417 117144417 - ATG exonic ENSG00000001626 stopgain SNV ENSG00000001626:ENST00000003084:exon2:c.164_165insATG:p.R55delinsRX,ENSG00000001626:ENST00000426809:exon2:c.164_165insATG:p.R55delinsRX,ENSG00000001626:ENST00000454343:exon2:c.164_165insATG:p.R55delinsRX Score=520;Name=lod=173 het 7 117144417 . G GATG . . . GT 0/1
7 117307124 117307126 GAG - exonic ENSG00000001626 nonframeshift deletion ENSG00000001626:ENST00000454343:exon26:c.4222_4224del:p.1408_1408del,ENSG00000001626:ENST00000003084:exon27:c.4405_4407del:p.1469_1469del Score=455;Name=lod=94 het 7 117307123 . AGAG A . . . GT 0/1