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| author | saket-choudhary |
|---|---|
| date | Tue, 07 Oct 2014 19:21:15 -0400 |
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#o_acc o_pos o_aa1 o_aa2 rsid acc pos aa1 aa2 nt1 nt2 prediction based_on effect pph2_class pph2_prob pph2_FPR pph2_TPR pph2_FDR site region PHAT dScore Score1 Score2 MSAv Nobs Nstruct Nfilt PDB_id PDB_pos PDB_ch ident length NormASA SecStr MapReg dVol dProp B-fact H-bonds AveNHet MinDHet AveNInt MinDInt AveNSit MinDSit Transv CodPos CpG MinDJxn PfamHit IdPmax IdPSNP IdQmin Q13615-2 1170 N I ? Q13615-2 1170 N I A T probably damaging alignment ? deleterious 0.998 0.0112 0.273 0.0274 ? ? ? +2.214 -1.705 -3.919 2 37 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 1 0 -2313 ? 1.268 ? 47.09 # chr22:30421786|AT|uc003agu.3+|MTMR3|NP_694690 Q13615 1198 N I ? Q13615 1198 N I A T probably damaging alignment ? deleterious 0.998 0.0112 0.273 0.0274 NO NO ? +2.296 -1.580 -3.876 2 38 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 1 0 -3099 NO 1.010 ? 45.58 # chr22:30421786|AT|uc003agv.3+|MTMR3|NP_066576 Q13615-3 1161 N I ? Q13615-3 1161 N I A T probably damaging alignment ? deleterious 0.998 0.0112 0.273 0.0274 ? ? ? +2.214 -1.705 -3.919 2 37 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 1 0 -3099 ? 1.275 ? 47.37 # chr22:30421786|AT|uc003agw.3+|MTMR3|NP_694691 Q9ULT6 637 H R ? Q9ULT6 637 H R A G benign alignment ? neutral 0.002 0.704 0.987 0.452 NO NO ? +0.398 -2.258 -2.656 2 47 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 0 1 2 +858 NO 20.363 20.363 77.46 # chr22:29446079|AG|uc003aeg.2+|ZNRF3|NP_115549 Q9ULT6 637 H R ? Q9ULT6 637 H R A G benign alignment ? neutral 0.002 0.704 0.987 0.452 NO NO ? +0.398 -2.258 -2.656 2 47 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 0 1 2 -1599 NO 20.363 20.363 77.46 # chr22:29446079|AG|uc003aeh.1+|ZNRF3|NP_115549 Q969V6 648 S C ? Q969V6 648 S C A T possibly damaging alignment ? deleterious 0.89 0.0639 0.821 0.0953 NO COMPBIAS ? +2.837 -1.909 -4.746 2 32 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 0 0 +123 NO 1.320 ? 90.33 # chr22:40814500|TA|uc003ayv.1-|MKL1|NP_065882 Q969V6 648 S R ? Q969V6 648 S R A C benign alignment ? neutral 0.167 0.131 0.92 0.162 NO COMPBIAS ? +1.814 -1.909 -3.723 2 32 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 0 2 +123 NO 2.525 ? 90.33 # chr22:40814500|TG|uc003ayv.1-|MKL1|NP_065882 Q969V6 648 S C ? Q969V6 648 S C A T possibly damaging alignment ? deleterious 0.89 0.0639 0.821 0.0953 NO COMPBIAS ? +2.837 -1.909 -4.746 2 32 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 0 0 +123 NO 1.320 ? 90.33 # chr22:40814500|TA|uc003ayw.1-|MKL1|NP_065882 Q969V6 648 S R ? Q969V6 648 S R A C benign alignment ? neutral 0.167 0.131 0.92 0.162 NO COMPBIAS ? +1.814 -1.909 -3.723 2 32 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 0 2 +123 NO 2.525 ? 90.33 # chr22:40814500|TG|uc003ayw.1-|MKL1|NP_065882 E7ER32 648 S C ? E7ER32 648 S C A T possibly damaging alignment ? deleterious 0.953 0.0514 0.788 0.0812 NO NO ? +2.837 -1.909 -4.746 2 33 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 0 0 +123 NO 1.255 ? 87.22 # chr22:40814500|TA|uc010gye.1-|MKL1| E7ER32 648 S R ? E7ER32 648 S R A C benign alignment ? neutral 0.337 0.111 0.901 0.142 NO NO ? +1.814 -1.909 -3.723 2 33 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 0 2 +123 NO 2.402 ? 87.22 # chr22:40814500|TG|uc010gye.1-|MKL1| B0QY83 598 S C ? B0QY83 598 S C A T possibly damaging alignment_mz ? deleterious 0.726 0.0797 0.856 0.112 NO NO ? +2.847 -1.931 -4.778 3 31 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 0 0 +123 NO 1.615 ? 91.49 # chr22:40814500|TA|uc010gyf.1-|MKL1|NP_065882 B0QY83 598 S R ? B0QY83 598 S R A C benign alignment_mz ? neutral 0.047 0.168 0.942 0.195 NO NO ? +1.674 -1.931 -3.605 3 31 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 1 0 2 +123 NO 5.560 ? 91.49 # chr22:40814500|TG|uc010gyf.1-|MKL1|NP_065882 Q969V6 396 A T ? Q969V6 396 A T G A benign alignment ? neutral 0.009 0.233 0.961 0.247 NO NO ? +0.097 -1.540 -1.637 2 39 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 0 0 1 +879 NO 21.659 21.659 88.08 # chr22:40815256|CT|uc003ayv.1-|MKL1|NP_065882 Q969V6 396 A T ? Q969V6 396 A T G A benign alignment ? neutral 0.009 0.233 0.961 0.247 NO NO ? +0.097 -1.540 -1.637 2 39 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 0 0 1 +879 NO 21.659 21.659 88.08 # chr22:40815256|CT|uc003ayw.1-|MKL1|NP_065882 E7ER32 396 A T ? E7ER32 396 A T G A benign alignment ? neutral 0.009 0.233 0.961 0.247 NO NO ? +0.097 -1.540 -1.637 2 39 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 0 0 1 +879 NO 20.554 20.554 83.58 # chr22:40815256|CT|uc010gye.1-|MKL1| B0QY83 346 A T ? B0QY83 346 A T G A benign alignment_mz ? neutral 0.008 0.239 0.963 0.252 NO NO ? +0.456 -1.547 -2.003 3 32 ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? ? 0 0 1 +879 NO 21.940 21.940 89.22 # chr22:40815256|CT|uc010gyf.1-|MKL1|NP_065882 ## Sources: ## Predictions: PolyPhen-2 v2.2.2r398 ## Sequences: UniProtKB/UniRef100 Release 2011_12 (14-Dec-2011) ## Structures: PDB/DSSP Snapshot 03-Jan-2012 (78304 Structures) ## Genes: UCSC MultiZ46Way GRCh37/hg19 (08-Oct-2009)