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metskips_out.hg19_multianno.txt
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metskips_out.hg19_multianno.txt
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Chr Start End Ref Alt Func.ensGene Gene.ensGene GeneDetail.ensGene ExonicFunc.ensGene AAChange.ensGene avsnp150 CLNALLELEID CLNDN CLNDISDB CLNREVSTAT CLNSIG InterVar(automated) PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM3 PM4 PM5 PM6 PP1 PP2 PP3 PP4 PP5 BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP3 BP4 BP5 BP6 BP7 InterVar_automated esp6500siv2_all ExAC_ALL ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS AF AF_popmax AF_male AF_female AF_raw AF_afr AF_sas AF_amr AF_eas AF_nfe AF_fin AF_asj AF_oth non_topmed_AF_popmax non_neuro_AF_popmax non_cancer_AF_popmax controls_AF_popmax 1000g2015aug_all 1000g2015aug_SAS CADD13_RawScore CADD13_PHRED SIFT_score SIFT_converted_rankscore SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_rankscore Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_rankscore Polyphen2_HVAR_pred LRT_score LRT_converted_rankscore LRT_pred MutationTaster_score MutationTaster_converted_rankscore MutationTaster_pred MutationAssessor_score MutationAssessor_score_rankscore MutationAssessor_pred FATHMM_score FATHMM_converted_rankscore FATHMM_pred PROVEAN_score PROVEAN_converted_rankscore PROVEAN_pred VEST3_score VEST3_rankscore MetaSVM_score MetaSVM_rankscore MetaSVM_pred MetaLR_score MetaLR_rankscore MetaLR_pred M-CAP_score M-CAP_rankscore M-CAP_pred REVEL_score REVEL_rankscore MutPred_score MutPred_rankscore CADD_raw CADD_raw_rankscore CADD_phred DANN_score DANN_rankscore fathmm-MKL_coding_score fathmm-MKL_coding_rankscore fathmm-MKL_coding_pred Eigen_coding_or_noncoding Eigen-raw Eigen-PC-raw GenoCanyon_score GenoCanyon_score_rankscore integrated_fitCons_score integrated_fitCons_score_rankscore integrated_confidence_value GERP++_RS GERP++_RS_rankscore phyloP100way_vertebrate phyloP100way_vertebrate_rankscore phyloP20way_mammalian phyloP20way_mammalian_rankscore phastCons100way_vertebrate phastCons100way_vertebrate_rankscore phastCons20way_mammalian phastCons20way_mammalian_rankscore SiPhy_29way_logOdds SiPhy_29way_logOdds_rankscore Interpro_domain GTEx_V6p_gene GTEx_V6p_tissue dbscSNV_ADA_SCORE dbscSNV_RF_SCORE Interpro_domain
chr7 116412043 116412045 GGT - exonic ENSG00000105976 . frameshift deletion ENSG00000105976:ENST00000318493:exon14:c.3082delG:p.D1028fs,ENSG00000105976:ENST00000397752:exon14:c.3028delG:p.D1010fs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116411900 116411900 - TGGACTAC intronic ENSG00000105976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116412041 116412041 A T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.A3080T:p.E1027V,ENSG00000105976:ENST00000397752:exon14:c.A3026T:p.E1009V . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.096165 28.2 0.004 0.682 D 0.997 0.764 D 0.964 0.807 D 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.8 0.741 T -0.62 0.183 N 0.726 0.725 -0.106 0.800 T 0.402 0.753 T 0.110 0.788 D 0.452 0.755 0.478 0.557 6.096 0.840 28.2 0.993 0.574 0.988 0.867 D c 0.626 0.683 1.000 0.747 0.757 0.989 0 5.67 0.876 8.698 0.910 1.140 0.893 1.000 0.715 1.000 0.888 16.192 0.817 Immunoglobulin-like fold . . 0.9972 0.81 .
chr7 116412043 116412043 G T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.G3082T:p.D1028Y,ENSG00000105976:ENST00000397752:exon14:c.G3028T:p.D1010Y . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.062454 28.1 0.001 0.784 D 1.0 0.899 D 0.994 0.807 D 0.000 0.843 D 1 0.810 D 2.095 0.583 M -0.79 0.740 T -2.09 0.476 N 0.742 0.738 -0.083 0.805 T 0.395 0.748 T . . . 0.464 0.763 0.412 0.450 6.062 0.835 28.1 0.995 0.706 0.991 0.912 D c 0.662 0.734 1.000 0.747 0.757 0.989 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 Immunoglobulin-like fold . . 1.0000 0.992 .
chr7 116411902 116411902 G C splicing ENSG00000105976 ENST00000397752:exon14:c.2888-1G>C;ENST00000318493:exon14:c.2942-1G>C . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.209984 25.6 . . . . . . . . . . . . 1 0.810 D . . . . . . . . . . . . . . . . . . . . . . . . 5.210 0.704 25.6 0.995 0.690 0.990 0.896 D c 1.224 1.090 1.0 0.983 0.049 0.003 2 5.76 0.907 7.490 0.801 1.048 0.713 1.000 0.715 1.000 0.888 20.324 0.987 . . . 1.0000 0.938 .
chr7 116412044 116412045 GT - splicing ENSG00000105976 ENST00000397752:exon14:r.spl;ENST00000318493:exon14:r.spl . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116414938 116414938 A T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000454623:exon3:c.A287T:p.Q96L,ENSG00000105976:ENST00000318493:exon15:c.A3086T:p.Q1029L,ENSG00000105976:ENST00000397752:exon15:c.A3032T:p.Q1011L . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.754134 21.1 0.115 0.496 T 0.604 0.375 P 0.208 0.355 B 0.000 0.629 D 1.000 0.548 D 1.905 0.510 L -0.75 0.735 T -0.75 0.210 N 0.511 0.554 -0.559 0.665 T 0.303 0.675 T 0.056 0.667 D 0.243 0.554 0.394 0.420 2.754 0.392 21.1 0.989 0.470 0.963 0.682 D c 0.215 0.325 1.000 0.747 0.646 0.442 0 5.62 0.857 5.437 0.661 1.199 0.960 1.000 0.715 0.992 0.562 12.021 0.525 Immunoglobulin-like fold . . . . .
chr7 116412040 116412040 G C exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.G3079C:p.E1027Q,ENSG00000105976:ENST00000397752:exon14:c.G3025C:p.E1009Q . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.886050 27.4 0.099 0.310 T 0.999 0.764 D 0.963 0.774 D 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.75 0.734 T -0.68 0.195 N 0.571 0.603 -0.100 0.801 T 0.424 0.768 T 0.063 0.688 D 0.347 0.672 0.394 0.420 5.886 0.807 27.4 0.998 0.899 0.992 0.923 D c 0.703 0.766 1.000 0.747 0.757 0.989 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 Immunoglobulin-like fold . . . . .
chr7 116412040 116412040 G T exonic ENSG00000105976 . stopgain ENSG00000105976:ENST00000318493:exon14:c.G3079T:p.E1027X,ENSG00000105976:ENST00000397752:exon14:c.G3025T:p.E1009X . . . . . . Likely pathogenic 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Pathogenic . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14.940321 48 . . . . . . . . . 0.000 0.843 D 1 0.810 A . . . . . . . . . . . . . . . . . . . . . . . . 14.940 0.998 48 0.998 0.844 0.991 0.912 D c 1.249 1.114 1.000 0.747 0.757 0.989 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 Immunoglobulin-like fold . . . . .
chr7 116412046 116412046 - AG intronic ENSG00000105976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116412040 116412040 G C exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.G3079C:p.E1027Q,ENSG00000105976:ENST00000397752:exon14:c.G3025C:p.E1009Q . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.886050 27.4 0.099 0.310 T 0.999 0.764 D 0.963 0.774 D 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.75 0.734 T -0.68 0.195 N 0.571 0.603 -0.100 0.801 T 0.424 0.768 T 0.063 0.688 D 0.347 0.672 0.394 0.420 5.886 0.807 27.4 0.998 0.899 0.992 0.923 D c 0.703 0.766 1.000 0.747 0.757 0.989 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 Immunoglobulin-like fold . . . . .
chr7 116412041 116412041 A T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.A3080T:p.E1027V,ENSG00000105976:ENST00000397752:exon14:c.A3026T:p.E1009V . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.096165 28.2 0.004 0.682 D 0.997 0.764 D 0.964 0.807 D 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.8 0.741 T -0.62 0.183 N 0.726 0.725 -0.106 0.800 T 0.402 0.753 T 0.110 0.788 D 0.452 0.755 0.478 0.557 6.096 0.840 28.2 0.993 0.574 0.988 0.867 D c 0.626 0.683 1.000 0.747 0.757 0.989 0 5.67 0.876 8.698 0.910 1.140 0.893 1.000 0.715 1.000 0.888 16.192 0.817 Immunoglobulin-like fold . . 0.9972 0.81 .
chr7 116412043 116412043 - A exonic ENSG00000105976 . frameshift insertion ENSG00000105976:ENST00000318493:exon14:c.3083dupA:p.D1028fs,ENSG00000105976:ENST00000397752:exon14:c.3029dupA:p.D1010fs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116412044 116412044 G C splicing ENSG00000105976 ENST00000397752:exon14:c.3028+1G>C;ENST00000318493:exon14:c.3082+1G>C . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.821819 24.8 . . . . . . . . . . . . 1 0.810 D . . . . . . . . . . . . . . . . . . . . . . . . 4.822 0.647 24.8 0.995 0.702 0.992 0.923 D c 1.236 1.096 1.000 0.747 0.094 0.019 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 . . . 1.0000 0.934 .
chr7 116412045 116412045 T - splicing ENSG00000105976 ENST00000397752:exon14:c.3028+2T>-;ENST00000318493:exon14:c.3082+2T>-;ENST00000397752:exon14:c.3028+2T>-;ENST00000318493:exon14:c.3082+2T>- . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116414933 116414933 A T splicing ENSG00000105976 ENST00000397752:exon15:c.3029-2A>T;ENST00000318493:exon15:c.3083-2A>T;ENST00000454623:exon3:c.284-2A>T . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.838327 23.4 . . . . . . . . . . . . 1 0.810 D . . . . . . . . . . . . . . . . . . . . . . . . 3.838 0.518 23.4 0.994 0.646 0.987 0.860 D c 1.080 0.919 1.000 0.747 0.087 0.018 0 5.62 0.857 7.348 0.784 1.199 0.960 1.000 0.715 0.974 0.471 16.107 0.810 . . . 1.0000 0.93 .
chr7 116414938 116414938 A T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000454623:exon3:c.A287T:p.Q96L,ENSG00000105976:ENST00000318493:exon15:c.A3086T:p.Q1029L,ENSG00000105976:ENST00000397752:exon15:c.A3032T:p.Q1011L . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.754134 21.1 0.115 0.496 T 0.604 0.375 P 0.208 0.355 B 0.000 0.629 D 1.000 0.548 D 1.905 0.510 L -0.75 0.735 T -0.75 0.210 N 0.511 0.554 -0.559 0.665 T 0.303 0.675 T 0.056 0.667 D 0.243 0.554 0.394 0.420 2.754 0.392 21.1 0.989 0.470 0.963 0.682 D c 0.215 0.325 1.000 0.747 0.646 0.442 0 5.62 0.857 5.437 0.661 1.199 0.960 1.000 0.715 0.992 0.562 12.021 0.525 Immunoglobulin-like fold . . . . .
chr7 116412044 116412044 G A splicing ENSG00000105976 ENST00000397752:exon14:c.3028+1G>A;ENST00000318493:exon14:c.3082+1G>A;ENST00000397752:exon14:c.3028+1G>A;ENST00000318493:exon14:c.3082+1G>A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.355829 25.9 . . . . . . . . . . . . 1 0.810 D . . . . . . . . . . . . . . . . . . . . . . . . 5.356 0.725 25.9 0.995 0.706 0.990 0.892 D c 1.236 1.096 1.000 0.747 0.094 0.019 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 . . . 1.0000 0.934 .
chr7 116412041 116412041 A T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.A3080T:p.E1027V,ENSG00000105976:ENST00000397752:exon14:c.A3026T:p.E1009V . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.096165 28.2 0.004 0.682 D 0.997 0.764 D 0.964 0.807 D 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.8 0.741 T -0.62 0.183 N 0.726 0.725 -0.106 0.800 T 0.402 0.753 T 0.110 0.788 D 0.452 0.755 0.478 0.557 6.096 0.840 28.2 0.993 0.574 0.988 0.867 D c 0.626 0.683 1.000 0.747 0.757 0.989 0 5.67 0.876 8.698 0.910 1.140 0.893 1.000 0.715 1.000 0.888 16.192 0.817 Immunoglobulin-like fold . . 0.9972 0.81 .
chr7 116412041 116412041 A T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.A3080T:p.E1027V,ENSG00000105976:ENST00000397752:exon14:c.A3026T:p.E1009V . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.096165 28.2 0.004 0.682 D 0.997 0.764 D 0.964 0.807 D 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.8 0.741 T -0.62 0.183 N 0.726 0.725 -0.106 0.800 T 0.402 0.753 T 0.110 0.788 D 0.452 0.755 0.478 0.557 6.096 0.840 28.2 0.993 0.574 0.988 0.867 D c 0.626 0.683 1.000 0.747 0.757 0.989 0 5.67 0.876 8.698 0.910 1.140 0.893 1.000 0.715 1.000 0.888 16.192 0.817 Immunoglobulin-like fold . . 0.9972 0.81 .
chr7 116412044 116412044 G A splicing ENSG00000105976 ENST00000397752:exon14:c.3028+1G>A;ENST00000318493:exon14:c.3082+1G>A;ENST00000397752:exon14:c.3028+1G>A;ENST00000318493:exon14:c.3082+1G>A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.355829 25.9 . . . . . . . . . . . . 1 0.810 D . . . . . . . . . . . . . . . . . . . . . . . . 5.356 0.725 25.9 0.995 0.706 0.990 0.892 D c 1.236 1.096 1.000 0.747 0.094 0.019 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 . . . 1.0000 0.934 .
chr7 116412041 116412041 A T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.A3080T:p.E1027V,ENSG00000105976:ENST00000397752:exon14:c.A3026T:p.E1009V . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.096165 28.2 0.004 0.682 D 0.997 0.764 D 0.964 0.807 D 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.8 0.741 T -0.62 0.183 N 0.726 0.725 -0.106 0.800 T 0.402 0.753 T 0.110 0.788 D 0.452 0.755 0.478 0.557 6.096 0.840 28.2 0.993 0.574 0.988 0.867 D c 0.626 0.683 1.000 0.747 0.757 0.989 0 5.67 0.876 8.698 0.910 1.140 0.893 1.000 0.715 1.000 0.888 16.192 0.817 Immunoglobulin-like fold . . 0.9972 0.81 .
chr7 116412040 116412040 G C exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.G3079C:p.E1027Q,ENSG00000105976:ENST00000397752:exon14:c.G3025C:p.E1009Q . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.886050 27.4 0.099 0.310 T 0.999 0.764 D 0.963 0.774 D 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.75 0.734 T -0.68 0.195 N 0.571 0.603 -0.100 0.801 T 0.424 0.768 T 0.063 0.688 D 0.347 0.672 0.394 0.420 5.886 0.807 27.4 0.998 0.899 0.992 0.923 D c 0.703 0.766 1.000 0.747 0.757 0.989 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 Immunoglobulin-like fold . . . . .
chr7 116412043 116412043 - ACA exonic ENSG00000105976 . nonframeshift insertion ENSG00000105976:ENST00000318493:exon14:c.3082_3083insACA:p.D1028delinsDN,ENSG00000105976:ENST00000397752:exon14:c.3028_3029insACA:p.D1010delinsDN . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116412041 116412041 A G exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.A3080G:p.E1027G,ENSG00000105976:ENST00000397752:exon14:c.A3026G:p.E1009G . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.225433 28.8 0.005 0.654 D 0.142 0.764 B 0.125 0.774 B 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.81 0.741 T -1.32 0.330 N 0.717 0.718 -0.106 0.800 T 0.402 0.753 T 0.100 0.773 D 0.437 0.745 0.403 0.435 6.225 0.859 28.8 0.999 0.989 0.988 0.866 D c 0.377 0.508 1.000 0.747 0.757 0.989 0 5.67 0.876 8.698 0.910 1.140 0.893 1.000 0.715 1.000 0.888 16.192 0.817 Immunoglobulin-like fold . . 0.5413 0.458 .
chr7 116412042 116412042 A C exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.A3081C:p.E1027D,ENSG00000105976:ENST00000397752:exon14:c.A3027C:p.E1009D . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.189217 23.8 0.035 0.450 D 0.991 0.657 D 0.848 0.732 P 0.000 0.843 D 1 0.810 D 1.645 0.421 L -0.76 0.735 T -0.37 0.132 N 0.468 0.519 -0.141 0.792 T 0.398 0.750 T 0.055 0.662 D 0.273 0.593 0.375 0.389 4.189 0.562 23.8 0.999 0.954 0.938 0.589 D c 0.508 0.568 1.000 0.747 0.757 0.989 0 5.67 0.876 5.683 0.676 1.140 0.893 1.000 0.715 1.000 0.888 16.192 0.817 Immunoglobulin-like fold . . 0.9998 0.998 .
chr7 116412041 116412041 A T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.A3080T:p.E1027V,ENSG00000105976:ENST00000397752:exon14:c.A3026T:p.E1009V . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.096165 28.2 0.004 0.682 D 0.997 0.764 D 0.964 0.807 D 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.8 0.741 T -0.62 0.183 N 0.726 0.725 -0.106 0.800 T 0.402 0.753 T 0.110 0.788 D 0.452 0.755 0.478 0.557 6.096 0.840 28.2 0.993 0.574 0.988 0.867 D c 0.626 0.683 1.000 0.747 0.757 0.989 0 5.67 0.876 8.698 0.910 1.140 0.893 1.000 0.715 1.000 0.888 16.192 0.817 Immunoglobulin-like fold . . 0.9972 0.81 .
chr7 116411902 116411920 GATCTGGGCAGTGAATTAG - exonic ENSG00000105976 . nonframeshift deletion ENSG00000105976:ENST00000318493:exon14:c.2942_2959del:p.981_987del,ENSG00000105976:ENST00000397752:exon14:c.2888_2905del:p.963_969del . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116412040 116412040 G T exonic ENSG00000105976 . stopgain ENSG00000105976:ENST00000318493:exon14:c.G3079T:p.E1027X,ENSG00000105976:ENST00000397752:exon14:c.G3025T:p.E1009X . . . . . . Likely pathogenic 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Pathogenic . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14.940321 48 . . . . . . . . . 0.000 0.843 D 1 0.810 A . . . . . . . . . . . . . . . . . . . . . . . . 14.940 0.998 48 0.998 0.844 0.991 0.912 D c 1.249 1.114 1.000 0.747 0.757 0.989 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 Immunoglobulin-like fold . . . . .
chr7 116414938 116414938 A T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000454623:exon3:c.A287T:p.Q96L,ENSG00000105976:ENST00000318493:exon15:c.A3086T:p.Q1029L,ENSG00000105976:ENST00000397752:exon15:c.A3032T:p.Q1011L . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.754134 21.1 0.115 0.496 T 0.604 0.375 P 0.208 0.355 B 0.000 0.629 D 1.000 0.548 D 1.905 0.510 L -0.75 0.735 T -0.75 0.210 N 0.511 0.554 -0.559 0.665 T 0.303 0.675 T 0.056 0.667 D 0.243 0.554 0.394 0.420 2.754 0.392 21.1 0.989 0.470 0.963 0.682 D c 0.215 0.325 1.000 0.747 0.646 0.442 0 5.62 0.857 5.437 0.661 1.199 0.960 1.000 0.715 0.992 0.562 12.021 0.525 Immunoglobulin-like fold . . . . .
chr7 116412042 116412043 AG - exonic ENSG00000105976 . frameshift deletion ENSG00000105976:ENST00000318493:exon14:c.3081_3082del:p.E1027fs,ENSG00000105976:ENST00000397752:exon14:c.3027_3028del:p.E1009fs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116412041 116412042 AA - exonic ENSG00000105976 . frameshift deletion ENSG00000105976:ENST00000318493:exon14:c.3080_3081del:p.E1027fs,ENSG00000105976:ENST00000397752:exon14:c.3026_3027del:p.E1009fs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116412040 116412040 G C exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000318493:exon14:c.G3079C:p.E1027Q,ENSG00000105976:ENST00000397752:exon14:c.G3025C:p.E1009Q . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.886050 27.4 0.099 0.310 T 0.999 0.764 D 0.963 0.774 D 0.000 0.843 D 1 0.810 D 1.995 0.543 M -0.75 0.734 T -0.68 0.195 N 0.571 0.603 -0.100 0.801 T 0.424 0.768 T 0.063 0.688 D 0.347 0.672 0.394 0.420 5.886 0.807 27.4 0.998 0.899 0.992 0.923 D c 0.703 0.766 1.000 0.747 0.757 0.989 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 Immunoglobulin-like fold . . . . .
chr7 116412043 116412043 - ACA exonic ENSG00000105976 . nonframeshift insertion ENSG00000105976:ENST00000318493:exon14:c.3082_3083insACA:p.D1028delinsDN,ENSG00000105976:ENST00000397752:exon14:c.3028_3029insACA:p.D1010delinsDN . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116414933 116414933 A T splicing ENSG00000105976 ENST00000397752:exon15:c.3029-2A>T;ENST00000318493:exon15:c.3083-2A>T;ENST00000454623:exon3:c.284-2A>T . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.838327 23.4 . . . . . . . . . . . . 1 0.810 D . . . . . . . . . . . . . . . . . . . . . . . . 3.838 0.518 23.4 0.994 0.646 0.987 0.860 D c 1.080 0.919 1.000 0.747 0.087 0.018 0 5.62 0.857 7.348 0.784 1.199 0.960 1.000 0.715 0.974 0.471 16.107 0.810 . . . 1.0000 0.93 .
chr7 116412043 116412043 - A exonic ENSG00000105976 . frameshift insertion ENSG00000105976:ENST00000318493:exon14:c.3083dupA:p.D1028fs,ENSG00000105976:ENST00000397752:exon14:c.3029dupA:p.D1010fs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116412040 116412040 G T exonic ENSG00000105976 . stopgain ENSG00000105976:ENST00000318493:exon14:c.G3079T:p.E1027X,ENSG00000105976:ENST00000397752:exon14:c.G3025T:p.E1009X . . . . . . Likely pathogenic 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Pathogenic . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14.940321 48 . . . . . . . . . 0.000 0.843 D 1 0.810 A . . . . . . . . . . . . . . . . . . . . . . . . 14.940 0.998 48 0.998 0.844 0.991 0.912 D c 1.249 1.114 1.000 0.747 0.757 0.989 0 5.67 0.876 9.333 0.964 0.998 0.613 1.000 0.715 1.000 0.888 20.117 0.979 Immunoglobulin-like fold . . . . .
chr7 116414938 116414938 A T exonic ENSG00000105976 . nonsynonymous SNV ENSG00000105976:ENST00000454623:exon3:c.A287T:p.Q96L,ENSG00000105976:ENST00000318493:exon15:c.A3086T:p.Q1029L,ENSG00000105976:ENST00000397752:exon15:c.A3032T:p.Q1011L . . . . . . Uncertain significance 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 Uncertain_significance . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2.754134 21.1 0.115 0.496 T 0.604 0.375 P 0.208 0.355 B 0.000 0.629 D 1.000 0.548 D 1.905 0.510 L -0.75 0.735 T -0.75 0.210 N 0.511 0.554 -0.559 0.665 T 0.303 0.675 T 0.056 0.667 D 0.243 0.554 0.394 0.420 2.754 0.392 21.1 0.989 0.470 0.963 0.682 D c 0.215 0.325 1.000 0.747 0.646 0.442 0 5.62 0.857 5.437 0.661 1.199 0.960 1.000 0.715 0.992 0.562 12.021 0.525 Immunoglobulin-like fold . . . . .
chr7 116412045 116412045 T - splicing ENSG00000105976 ENST00000397752:exon14:c.3028+2T>-;ENST00000318493:exon14:c.3082+2T>-;ENST00000397752:exon14:c.3028+2T>-;ENST00000318493:exon14:c.3082+2T>- . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
chr7 116412047 116412051 TATTT - intronic ENSG00000105976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .