#chr pos(1-based) ref alt aaref aaalt rs_dbSNP151 hg19_chr hg19_pos(1-based) hg18_chr hg18_pos(1-based) aapos genename Ensembl_geneid Ensembl_transcriptid Ensembl_proteinid Uniprot_acc Uniprot_entry HGVSc_ANNOVAR HGVSp_ANNOVAR HGVSc_snpEff HGVSp_snpEff HGVSc_VEP HGVSp_VEP APPRIS GENCODE_basic TSL VEP_canonical cds_strand refcodon codonpos codon_degeneracy Ancestral_allele AltaiNeandertal Denisova VindijiaNeandertal SIFT_score SIFT_converted_rankscore SIFT_pred SIFT4G_score SIFT4G_converted_rankscore SIFT4G_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 LRT_Omega MutationTaster_score MutationTaster_converted_rankscore MutationTaster_pred MutationTaster_model MutationTaster_AAE MutationAssessor_score MutationAssessor_rankscore MutationAssessor_pred FATHMM_score FATHMM_converted_rankscore FATHMM_pred PROVEAN_score PROVEAN_converted_rankscore PROVEAN_pred VEST4_score VEST4_rankscore MetaSVM_score MetaSVM_rankscore MetaSVM_pred MetaLR_score MetaLR_rankscore MetaLR_pred Reliability_index M-CAP_score M-CAP_rankscore M-CAP_pred REVEL_score REVEL_rankscore MutPred_score MutPred_rankscore MutPred_protID MutPred_AAchange MutPred_Top5features MVP_score MVP_rankscore MPC_score MPC_rankscore PrimateAI_score PrimateAI_rankscore PrimateAI_pred DEOGEN2_score DEOGEN2_rankscore DEOGEN2_pred Aloft_Fraction_transcripts_affected Aloft_prob_Tolerant Aloft_prob_Recessive Aloft_prob_Dominant Aloft_pred Aloft_Confidence CADD_raw CADD_raw_rankscore CADD_phred DANN_score DANN_rankscore fathmm-MKL_coding_score fathmm-MKL_coding_rankscore fathmm-MKL_coding_pred fathmm-MKL_coding_group fathmm-XF_coding_score fathmm-XF_coding_rankscore fathmm-XF_coding_pred Eigen-raw_coding Eigen-raw_coding_rankscore Eigen-pred_coding Eigen-PC-raw_coding Eigen-PC-raw_coding_rankscore Eigen-PC-phred_coding GenoCanyon_score GenoCanyon_rankscore integrated_fitCons_score integrated_fitCons_rankscore integrated_confidence_value GM12878_fitCons_score GM12878_fitCons_rankscore GM12878_confidence_value H1-hESC_fitCons_score H1-hESC_fitCons_rankscore H1-hESC_confidence_value HUVEC_fitCons_score HUVEC_fitCons_rankscore HUVEC_confidence_value LINSIGHT LINSIGHT_rankscore GERP++_NR GERP++_RS GERP++_RS_rankscore phyloP100way_vertebrate phyloP100way_vertebrate_rankscore phyloP30way_mammalian phyloP30way_mammalian_rankscore phyloP17way_primate phyloP17way_primate_rankscore phastCons100way_vertebrate phastCons100way_vertebrate_rankscore phastCons30way_mammalian phastCons30way_mammalian_rankscore phastCons17way_primate phastCons17way_primate_rankscore SiPhy_29way_pi SiPhy_29way_logOdds SiPhy_29way_logOdds_rankscore bStatistic bStatistic_rankscore 1000Gp3_AC 1000Gp3_AF 1000Gp3_AFR_AC 1000Gp3_AFR_AF 1000Gp3_EUR_AC 1000Gp3_EUR_AF 1000Gp3_AMR_AC 1000Gp3_AMR_AF 1000Gp3_EAS_AC 1000Gp3_EAS_AF 1000Gp3_SAS_AC 1000Gp3_SAS_AF TWINSUK_AC TWINSUK_AF ALSPAC_AC ALSPAC_AF UK10K_AC UK10K_AF ESP6500_AA_AC ESP6500_AA_AF ESP6500_EA_AC ESP6500_EA_AF ExAC_AC ExAC_AF ExAC_Adj_AC ExAC_Adj_AF ExAC_AFR_AC ExAC_AFR_AF ExAC_AMR_AC ExAC_AMR_AF ExAC_EAS_AC ExAC_EAS_AF ExAC_FIN_AC ExAC_FIN_AF ExAC_NFE_AC ExAC_NFE_AF ExAC_SAS_AC ExAC_SAS_AF ExAC_nonTCGA_AC ExAC_nonTCGA_AF ExAC_nonTCGA_Adj_AC ExAC_nonTCGA_Adj_AF ExAC_nonTCGA_AFR_AC ExAC_nonTCGA_AFR_AF ExAC_nonTCGA_AMR_AC ExAC_nonTCGA_AMR_AF ExAC_nonTCGA_EAS_AC ExAC_nonTCGA_EAS_AF ExAC_nonTCGA_FIN_AC ExAC_nonTCGA_FIN_AF ExAC_nonTCGA_NFE_AC ExAC_nonTCGA_NFE_AF ExAC_nonTCGA_SAS_AC ExAC_nonTCGA_SAS_AF ExAC_nonpsych_AC ExAC_nonpsych_AF ExAC_nonpsych_Adj_AC ExAC_nonpsych_Adj_AF ExAC_nonpsych_AFR_AC ExAC_nonpsych_AFR_AF ExAC_nonpsych_AMR_AC ExAC_nonpsych_AMR_AF ExAC_nonpsych_EAS_AC ExAC_nonpsych_EAS_AF ExAC_nonpsych_FIN_AC ExAC_nonpsych_FIN_AF ExAC_nonpsych_NFE_AC ExAC_nonpsych_NFE_AF ExAC_nonpsych_SAS_AC ExAC_nonpsych_SAS_AF gnomAD_exomes_flag gnomAD_exomes_AC gnomAD_exomes_AN gnomAD_exomes_AF gnomAD_exomes_nhomalt gnomAD_exomes_AFR_AC gnomAD_exomes_AFR_AN gnomAD_exomes_AFR_AF gnomAD_exomes_AFR_nhomalt gnomAD_exomes_AMR_AC gnomAD_exomes_AMR_AN gnomAD_exomes_AMR_AF gnomAD_exomes_AMR_nhomalt gnomAD_exomes_ASJ_AC gnomAD_exomes_ASJ_AN gnomAD_exomes_ASJ_AF gnomAD_exomes_ASJ_nhomalt gnomAD_exomes_EAS_AC gnomAD_exomes_EAS_AN gnomAD_exomes_EAS_AF gnomAD_exomes_EAS_nhomalt gnomAD_exomes_FIN_AC gnomAD_exomes_FIN_AN gnomAD_exomes_FIN_AF gnomAD_exomes_FIN_nhomalt gnomAD_exomes_NFE_AC gnomAD_exomes_NFE_AN gnomAD_exomes_NFE_AF gnomAD_exomes_NFE_nhomalt gnomAD_exomes_SAS_AC gnomAD_exomes_SAS_AN gnomAD_exomes_SAS_AF gnomAD_exomes_SAS_nhomalt gnomAD_exomes_POPMAX_AC gnomAD_exomes_POPMAX_AN gnomAD_exomes_POPMAX_AF gnomAD_exomes_POPMAX_nhomalt gnomAD_exomes_controls_AC gnomAD_exomes_controls_AN gnomAD_exomes_controls_AF gnomAD_exomes_controls_nhomalt gnomAD_exomes_controls_AFR_AC gnomAD_exomes_controls_AFR_AN gnomAD_exomes_controls_AFR_AF gnomAD_exomes_controls_AFR_nhomalt gnomAD_exomes_controls_AMR_AC gnomAD_exomes_controls_AMR_AN gnomAD_exomes_controls_AMR_AF gnomAD_exomes_controls_AMR_nhomalt gnomAD_exomes_controls_ASJ_AC gnomAD_exomes_controls_ASJ_AN gnomAD_exomes_controls_ASJ_AF gnomAD_exomes_controls_ASJ_nhomalt gnomAD_exomes_controls_EAS_AC gnomAD_exomes_controls_EAS_AN gnomAD_exomes_controls_EAS_AF gnomAD_exomes_controls_EAS_nhomalt gnomAD_exomes_controls_FIN_AC gnomAD_exomes_controls_FIN_AN gnomAD_exomes_controls_FIN_AF gnomAD_exomes_controls_FIN_nhomalt gnomAD_exomes_controls_NFE_AC gnomAD_exomes_controls_NFE_AN gnomAD_exomes_controls_NFE_AF gnomAD_exomes_controls_NFE_nhomalt gnomAD_exomes_controls_SAS_AC gnomAD_exomes_controls_SAS_AN gnomAD_exomes_controls_SAS_AF gnomAD_exomes_controls_SAS_nhomalt gnomAD_exomes_controls_POPMAX_AC gnomAD_exomes_controls_POPMAX_AN gnomAD_exomes_controls_POPMAX_AF gnomAD_exomes_controls_POPMAX_nhomalt gnomAD_genomes_flag gnomAD_genomes_AC gnomAD_genomes_AN gnomAD_genomes_AF gnomAD_genomes_nhomalt gnomAD_genomes_AFR_AC gnomAD_genomes_AFR_AN gnomAD_genomes_AFR_AF gnomAD_genomes_AFR_nhomalt gnomAD_genomes_AMR_AC gnomAD_genomes_AMR_AN gnomAD_genomes_AMR_AF gnomAD_genomes_AMR_nhomalt gnomAD_genomes_ASJ_AC gnomAD_genomes_ASJ_AN gnomAD_genomes_ASJ_AF gnomAD_genomes_ASJ_nhomalt gnomAD_genomes_EAS_AC gnomAD_genomes_EAS_AN gnomAD_genomes_EAS_AF gnomAD_genomes_EAS_nhomalt gnomAD_genomes_FIN_AC gnomAD_genomes_FIN_AN gnomAD_genomes_FIN_AF gnomAD_genomes_FIN_nhomalt gnomAD_genomes_NFE_AC gnomAD_genomes_NFE_AN gnomAD_genomes_NFE_AF gnomAD_genomes_NFE_nhomalt gnomAD_genomes_POPMAX_AC gnomAD_genomes_POPMAX_AN gnomAD_genomes_POPMAX_AF gnomAD_genomes_POPMAX_nhomalt gnomAD_genomes_controls_AC gnomAD_genomes_controls_AN gnomAD_genomes_controls_AF gnomAD_genomes_controls_nhomalt gnomAD_genomes_controls_AFR_AC gnomAD_genomes_controls_AFR_AN gnomAD_genomes_controls_AFR_AF gnomAD_genomes_controls_AFR_nhomalt gnomAD_genomes_controls_AMR_AC gnomAD_genomes_controls_AMR_AN gnomAD_genomes_controls_AMR_AF gnomAD_genomes_controls_AMR_nhomalt gnomAD_genomes_controls_ASJ_AC gnomAD_genomes_controls_ASJ_AN gnomAD_genomes_controls_ASJ_AF gnomAD_genomes_controls_ASJ_nhomalt gnomAD_genomes_controls_EAS_AC gnomAD_genomes_controls_EAS_AN gnomAD_genomes_controls_EAS_AF gnomAD_genomes_controls_EAS_nhomalt gnomAD_genomes_controls_FIN_AC gnomAD_genomes_controls_FIN_AN gnomAD_genomes_controls_FIN_AF gnomAD_genomes_controls_FIN_nhomalt gnomAD_genomes_controls_NFE_AC gnomAD_genomes_controls_NFE_AN gnomAD_genomes_controls_NFE_AF gnomAD_genomes_controls_NFE_nhomalt gnomAD_genomes_controls_POPMAX_AC gnomAD_genomes_controls_POPMAX_AN gnomAD_genomes_controls_POPMAX_AF gnomAD_genomes_controls_POPMAX_nhomalt clinvar_id clinvar_clnsig clinvar_trait clinvar_review clinvar_hgvs clinvar_var_source clinvar_MedGen_id clinvar_OMIM_id clinvar_Orphanet_id Interpro_domain GTEx_V7_gene GTEx_V7_tissue Geuvadis_eQTL_target_gene 9 14807 C A X Y . 9 14807 9 4807 466 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1398G>T p.X466Y c.1398G>T p.Ter466Tyrext*? c.1398G>T p.Ter466TyrextTer4 principal1 Y 2 YES - TAG 3 2 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 0.00068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.098161 0.11270 13.68 0.94536412076417187 0.25040 0.58574 0.30678 D AEFBI . . . . . . . . . 5.08465710554689E-5 0.03989 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.11 1.11 0.19640 0.863000 0.27567 0.614000 0.30243 0.220000 0.18069 0.773000 0.29391 0.089000 0.18991 0.406000 0.26916 0.0:1.0:0.0:0.0 5.6613 0.16945 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14807 C G X Y rs1159164353 9 14807 9 4807 466 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1398G>C p.X466Y c.1398G>C p.Ter466Tyrext*? c.1398G>C p.Ter466TyrextTer4 principal1 Y 2 YES - TAG 3 2 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 0.00068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.124429 0.11600 13.86 0.91491788632503457 0.20764 0.59904 0.31044 D AEFBI . . . . . . . . . 5.08465710554689E-5 0.03989 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.11 1.11 0.19640 0.863000 0.27567 0.614000 0.30243 0.220000 0.18069 0.773000 0.29391 0.089000 0.18991 0.406000 0.26916 0.0:1.0:0.0:0.0 5.6613 0.16945 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . segdup 3 203494 1.474245e-05 0 0 9298 0 0 2 30614 6.532959e-05 0 0 8248 0 0 0 16252 0 0 0 18620 0 0 0 90430 0 0 0 24956 0 0 2 30614 6.532959e-05 0 0 89040 0 0 0 4130 0 0 0 15116 0 0 0 1746 0 0 0 7718 0 0 0 11836 0 0 0 34224 0 0 0 12654 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14808 T A X L . 9 14808 9 4808 466 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1397A>T p.X466L c.1397A>T p.Ter466Leuext*? c.1397A>T p.Ter466LeuextTer4 principal1 Y 2 YES - TAG 2 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 0.00068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.343428 0.14447 15.23 0.94864773809501879 0.25679 0.76364 0.37446 D AEFBI . . . . . . . . . 4.46711908308454E-5 0.03989 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.11 1.11 0.19640 3.086000 0.49857 -0.121000 0.11927 0.241000 0.18245 1.000000 0.71638 0.094000 0.19186 0.395000 0.26670 0.0:0.0:0.0:1.0 4.4829 0.11189 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14808 T C X W . 9 14808 9 4808 466 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1397A>G p.X466W c.1397A>G p.Ter466Trpext*? c.1397A>G p.Ter466TrpextTer4 principal1 Y 2 YES - TAG 2 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 0.00068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.390980 0.15087 15.51 0.9135173518051467 0.20615 0.21761 0.21515 N AEFBI . . . . . . . . . 4.46711908308454E-5 0.03989 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.11 1.11 0.19640 3.086000 0.49857 -0.121000 0.11927 0.241000 0.18245 1.000000 0.71638 0.094000 0.19186 0.395000 0.26670 0.0:0.0:0.0:1.0 4.4829 0.11189 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14808 T G X S . 9 14808 9 4808 466 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1397A>C p.X466S c.1397A>C p.Ter466Serext*? c.1397A>C p.Ter466SerextTer4 principal1 Y 2 YES - TAG 2 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 0.00068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.368879 0.14789 15.38 0.91915898606700275 0.21238 0.77340 0.38015 D AEFBI . . . . . . . . . 4.46711908308454E-5 0.03989 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.11 1.11 0.19640 3.086000 0.49857 -0.121000 0.11927 0.241000 0.18245 1.000000 0.71638 0.094000 0.19186 0.395000 0.26670 0.0:0.0:0.0:1.0 4.4829 0.11189 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14809 A C X E . 9 14809 9 4809 466 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1396T>G p.X466E c.1396T>G p.Ter466Gluext*? c.1396T>G p.Ter466GluextTer4 principal1 Y 2 YES - TAG 1 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 0.00068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.277233 0.13568 14.84 0.92933717212409972 0.22500 0.93843 0.59352 D AEFBI . . . . . . . . . 0.0012155711452909 0.08343 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.62495 0.41260 1.11 1.11 0.19640 5.385000 0.65981 -0.051000 0.13049 0.270000 0.18506 1.000000 0.71638 0.106000 0.19622 0.382000 0.26379 1.0:0.0:0.0:0.0 4.4829 0.11189 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14809 A G X Q rs746393172 9 14809 9 4809 466 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1396T>C p.X466Q c.1396T>C p.Ter466Glnext*? c.1396T>C p.Ter466GlnextTer4 principal1 Y 2 YES - TAG 1 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 0.00068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.297644 0.13838 14.96 0.92832384641125709 0.22365 0.82163 0.41433 D AEFBI . . . . . . . . . 0.0012155711452909 0.08343 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.62495 0.41260 1.11 1.11 0.19640 5.385000 0.65981 -0.051000 0.13049 0.270000 0.18506 1.000000 0.71638 0.106000 0.19622 0.382000 0.26379 1.0:0.0:0.0:0.0 4.4829 0.11189 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 11 9.889e-05 9 1.505e-04 0 0 0 0 0 0 0 0 0 0 9 9.476e-04 11 1.130e-04 9 1.717e-04 0 0 0 0 0 0 0 0 0 0 9 9.522e-04 11 1.343e-04 9 2.116e-04 0 0 0 0 0 0 0 0 0 0 9 9.482e-04 segdup 16 205662 7.779755e-05 3 0 9518 0 0 0 30786 0 0 0 8322 0 0 0 16434 0 0 0 18726 0 0 0 91560 0 0 16 25182 6.353745e-04 3 16 25182 6.353745e-04 3 5 90070 5.551238e-05 1 0 4254 0 0 0 15206 0 0 0 1772 0 0 0 7826 0 0 0 11872 0 0 0 34722 0 0 5 12786 3.910527e-04 1 5 12786 3.910527e-04 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14809 A T X K . 9 14809 9 4809 466 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1396T>A p.X466K c.1396T>A p.Ter466Lysext*? c.1396T>A p.Ter466LysextTer4 principal1 Y 2 YES - TAG 1 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.008 0.00068 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.256326 0.13295 14.71 0.95526604295796247 0.27153 0.93550 0.58523 D AEFBI . . . . . . . . . 0.0012155711452909 0.08343 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.62495 0.41260 1.11 1.11 0.19640 5.385000 0.65981 -0.051000 0.13049 0.270000 0.18506 1.000000 0.71638 0.106000 0.19622 0.382000 0.26379 1.0:0.0:0.0:0.0 4.4829 0.11189 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14811 G A S L rs748846244 9 14811 9 4811 465 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1394C>T p.S465L c.1394C>T p.Ser465Leu c.1394C>T p.Ser465Leu principal1 Y 2 YES - TCG 2 0 . ./. ./. ./. . . . 0.014 0.62352 D 0.999 0.77913 D 0.978 0.74104 D . . . . . . . . . 2.08 0.57402 M . . . . . . 0.28 0.31702 . . . . . . . . . . . . . . . . . 0.535439087667 0.53195 . . 0.585564494133 0.50869 . 0.048745 0.28108 T . . . . . . 3.860602 0.70815 25.7 0.94175834562339622 0.24392 0.87185 0.46648 D AEFBI . . . . . . . . . 0.00619046546096063 0.11151 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.643772 0.41640 1.11 1.11 0.19640 7.520000 0.80737 0.794000 0.31387 0.246000 0.18300 1.000000 0.71638 0.290000 0.23859 0.370000 0.26111 0.0:0.0:1.0:0.0 5.6613 0.16945 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 274 2.464e-03 195 2.585e-03 99 2.840e-02 12 1.471e-03 0 0 0 0 64 1.551e-03 17 1.520e-03 228 2.343e-03 157 2.358e-03 87 3.173e-02 12 1.514e-03 0 0 0 0 39 1.142e-03 17 1.528e-03 256 3.126e-03 179 3.338e-03 99 2.848e-02 12 1.472e-03 0 0 0 0 49 2.036e-03 17 1.521e-03 segdup 408 207160 1.969492e-03 25 148 9588 1.543596e-02 3 57 30944 1.842037e-03 2 10 8364 1.195600e-03 3 0 16540 0 0 6 18800 3.191489e-04 2 142 92378 1.537163e-03 10 32 25400 1.259843e-03 3 148 9588 1.543596e-02 3 173 90776 1.905790e-03 8 73 4312 1.692950e-02 1 28 15266 1.834141e-03 2 1 1798 5.561735e-04 0 0 7892 0 0 1 11868 8.426020e-05 0 50 35112 1.424015e-03 4 19 12894 1.473554e-03 1 73 4312 1.692950e-02 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14811 G C S W . 9 14811 9 4811 465 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1394C>G p.S465W c.1394C>G p.Ser465Trp c.1394C>G p.Ser465Trp principal1 Y 2 YES - TCG 2 0 . ./. ./. ./. . . . 0.002 0.79402 D 1.0 0.90584 D 0.996 0.84481 D . . . . . . . . . 2.08 0.57402 M . . . . . . 0.437 0.47580 . . . . . . . . . . . . . . . . . 0.572278518485 0.56894 . . 0.600606441498 0.52989 . 0.048603 0.28064 T . . . . . . 3.980927 0.74706 26.3 0.92368672914268313 0.21774 0.94628 0.61789 D AEFBI . . . . . . . . . 0.00619046546096063 0.11151 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.643772 0.41640 1.11 1.11 0.19640 7.520000 0.80737 0.794000 0.31387 0.246000 0.18300 1.000000 0.71638 0.290000 0.23859 0.370000 0.26111 0.0:0.0:1.0:0.0 5.6613 0.16945 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14811 G T S X . 9 14811 9 4811 465 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1394C>A p.S465X c.1394C>A p.Ser465* c.1394C>A p.Ser465Ter principal1 Y 2 YES - TCG 2 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.032 0.00825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.282867 0.96755 36 0.9439177274490278 0.24774 0.94362 0.60924 D AEFBI . . . . . . . . . 0.00619046546096063 0.11151 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.643772 0.41640 1.11 1.11 0.19640 7.520000 0.80737 0.794000 0.31387 0.246000 0.18300 1.000000 0.71638 0.290000 0.23859 0.370000 0.26111 0.0:0.0:1.0:0.0 5.6613 0.16945 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14812 A C S A rs1318508691 9 14812 9 4812 465 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1393T>G p.S465A c.1393T>G p.Ser465Ala c.1393T>G p.Ser465Ala principal1 Y 2 YES - TCG 1 0 . ./. ./. ./. . . . 0.632 0.07150 T 0.982 0.60036 D 0.952 0.69102 D . . . . . . . . . 1.53 0.38800 L . . . . . . 0.107 0.09207 . . . . . . . . . . . . . . . . . 0.220303561663 0.21668 . . 0.569062948227 0.48545 . 0.020377 0.16057 T . . . . . . 2.610341 0.36789 22.2 0.87429901064956372 0.17221 0.30405 0.24074 N AEFBI . . . . . . . . . 8.25638951233016E-5 0.04703 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 1.733000 0.37779 0.771000 0.31159 0.359000 0.20063 0.996000 0.39380 0.369000 0.25181 0.371000 0.26133 1.0:0.0:0.0:0.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14812 A G S P . 9 14812 9 4812 465 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1393T>C p.S465P c.1393T>C p.Ser465Pro c.1393T>C p.Ser465Pro principal1 Y 2 YES - TCG 1 0 . ./. ./. ./. . . . 0.034 0.52727 D 0.998 0.73220 D 0.986 0.76916 D . . . . . . . . . 1.39 0.34934 L . . . . . . 0.174 0.18649 . . . . . . . . . . . . . . . . . 0.31077124679 0.30691 . . 0.582691848278 0.50463 . 0.048359 0.27994 T . . . . . . 3.342109 0.55059 23.8 0.86948696542354009 0.16883 0.60483 0.31208 D AEFBI . . . . . . . . . 8.25638951233016E-5 0.04703 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 1.733000 0.37779 0.771000 0.31159 0.359000 0.20063 0.996000 0.39380 0.369000 0.25181 0.371000 0.26133 1.0:0.0:0.0:0.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14812 A T S T . 9 14812 9 4812 465 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1393T>A p.S465T c.1393T>A p.Ser465Thr c.1393T>A p.Ser465Thr principal1 Y 2 YES - TCG 1 0 . ./. ./. ./. . . . 0.043 0.49942 D 0.982 0.60036 D 0.952 0.69102 D . . . . . . . . . 1.39 0.34934 L . . . . . . 0.155 0.16028 . . . . . . . . . . . . . . . . . 0.220303561663 0.21668 . . 0.575038075447 0.49388 . 0.041242 0.25794 T . . . . . . 2.622509 0.37064 22.3 0.93344624647539065 0.23076 0.59949 0.31057 D AEFBI . . . . . . . . . 8.25638951233016E-5 0.04703 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 1.733000 0.37779 0.771000 0.31159 0.359000 0.20063 0.996000 0.39380 0.369000 0.25181 0.371000 0.26133 1.0:0.0:0.0:0.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14813 T A E D . 9 14813 9 4813 464 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1392A>T p.E464D c.1392A>T p.Glu464Asp c.1392A>T p.Glu464Asp principal1 Y 2 YES - GAA 3 2 . ./. ./. ./. . . . 0.277 0.21880 T 0.012 0.16265 B 0.007 0.12992 B . . . . . . . . . 1.545 0.39105 L . . . . . . 0.281 0.31814 . . . . . . . . . . . . . . . . . 0.201204373187 0.19734 . . 0.618973791599 0.55584 . 0.038596 0.24896 T . . . . . . 1.884148 0.22394 18.83 0.94046122507995467 0.24171 0.49527 0.28454 N AEFBI . . . . . . . . . 3.08696328549274E-5 0.03498 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 -0.024 0.13267 0.065000 0.14336 0.675000 0.30527 0.319000 0.19345 0.985000 0.35982 0.412000 0.25870 0.369000 0.26088 0.0:0.2698:0.0:0.7302 3.1149 0.05988 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14813 T G E D . 9 14813 9 4813 464 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1392A>C p.E464D c.1392A>C p.Glu464Asp c.1392A>C p.Glu464Asp principal1 Y 2 YES - GAA 3 2 . ./. ./. ./. . . . 0.277 0.21880 T 0.012 0.16265 B 0.007 0.12992 B . . . . . . . . . 1.545 0.39105 L . . . . . . 0.281 0.31814 . . . . . . . . . . . . . . . . . 0.201204373187 0.19734 . . 0.618973791599 0.55584 . 0.038596 0.24896 T . . . . . . 1.909599 0.22814 19.02 0.88285619757136313 0.17858 0.53558 0.29401 D AEFBI . . . . . . . . . 3.08696328549274E-5 0.03498 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 -0.024 0.13267 0.065000 0.14336 0.675000 0.30527 0.319000 0.19345 0.985000 0.35982 0.412000 0.25870 0.369000 0.26088 0.0:0.2698:0.0:0.7302 3.1149 0.05988 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14814 T A E V . 9 14814 9 4814 464 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1391A>T p.E464V c.1391A>T p.Glu464Val c.1391A>T p.Glu464Val principal1 Y 2 YES - GAA 2 0 . ./. ./. ./. . . . 0.002 0.79402 D 0.964 0.55854 D 0.601 0.50808 P . . . . . . . . . 2.24 0.63355 M . . . . . . 0.521 0.55106 . . . . . . . . . . . . . . . . . 0.560153176789 0.55677 . . 0.597163140774 0.52505 . 0.11966 0.44134 T . . . . . . 3.709104 0.65932 25.0 0.94464759528728026 0.24907 0.84758 0.43846 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 4.376000 0.59324 0.675000 0.30527 0.319000 0.19345 1.000000 0.71638 0.434000 0.26216 0.365000 0.25999 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14814 T C E G . 9 14814 9 4814 464 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1391A>G p.E464G c.1391A>G p.Glu464Gly c.1391A>G p.Glu464Gly principal1 Y 2 YES - GAA 2 0 . ./. ./. ./. . . . 0.004 0.74150 D 0.792 0.44688 P 0.255 0.39216 B . . . . . . . . . 2.24 0.63355 M . . . . . . 0.464 0.50056 . . . . . . . . . . . . . . . . . 0.372087925617 0.36815 . . 0.586091756821 0.50943 . 0.123544 0.44798 T . . . . . . 3.274693 0.53220 23.6 0.89999477917456638 0.19290 0.79335 0.39293 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 4.376000 0.59324 0.675000 0.30527 0.319000 0.19345 1.000000 0.71638 0.434000 0.26216 0.365000 0.25999 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14814 T G E A . 9 14814 9 4814 464 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1391A>C p.E464A c.1391A>C p.Glu464Ala c.1391A>C p.Glu464Ala principal1 Y 2 YES - GAA 2 0 . ./. ./. ./. . . . 0.011 0.64786 D 0.792 0.44688 P 0.257 0.39298 B . . . . . . . . . 2.24 0.63355 M . . . . . . 0.494 0.52740 . . . . . . . . . . . . . . . . . 0.286465849087 0.28247 . . 0.623189628124 0.56180 . 0.147625 0.48580 T . . . . . . 3.116444 0.49030 23.2 0.9037034375128038 0.19634 0.85602 0.44752 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 4.376000 0.59324 0.675000 0.30527 0.319000 0.19345 1.000000 0.71638 0.434000 0.26216 0.365000 0.25999 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14815 C A E X . 9 14815 9 4815 464 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1390G>T p.E464X c.1390G>T p.Glu464* c.1390G>T p.Glu464Ter principal1 Y 2 YES - GAA 1 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.113 0.10056 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.072646 0.96474 36 0.93358610543985732 0.23096 0.91512 0.53686 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 5.997000 0.70316 0.613000 0.30239 0.291000 0.18778 1.000000 0.71638 0.444000 0.26374 0.357000 0.25818 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14815 C G E Q . 9 14815 9 4815 464 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1390G>C p.E464Q c.1390G>C p.Glu464Gln c.1390G>C p.Glu464Gln principal1 Y 2 YES - GAA 1 0 . ./. ./. ./. . . . 0.014 0.62352 D 0.886 0.48745 P 0.398 0.44426 B . . . . . . . . . 2.24 0.63355 M . . . . . . 0.376 0.41754 . . . . . . . . . . . . . . . . . 0.236278675362 0.23226 . . 0.604782164097 0.53579 . 0.075783 0.35259 T . . . . . . 2.966735 0.45242 22.9 0.90476874992744616 0.19734 0.91969 0.54656 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 5.997000 0.70316 0.613000 0.30239 0.291000 0.18778 1.000000 0.71638 0.444000 0.26374 0.357000 0.25818 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14815 C T E K . 9 14815 9 4815 464 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1390G>A p.E464K c.1390G>A p.Glu464Lys c.1390G>A p.Glu464Lys principal1 Y 2 YES - GAA 1 0 . ./. ./. ./. . . . 0.088 0.40586 T 0.792 0.44688 P 0.257 0.39298 B . . . . . . . . . 1.89 0.50145 L . . . . . . 0.455 0.49237 . . . . . . . . . . . . . . . . . 0.223847106136 0.22009 . . 0.686115264893 0.65147 . 0.103728 0.41264 T . . . . . . 3.130273 0.49389 23.3 0.94065849804471646 0.24204 0.89621 0.50203 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 5.997000 0.70316 0.613000 0.30239 0.291000 0.18778 1.000000 0.71638 0.444000 0.26374 0.357000 0.25818 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14816 C A W C . 9 14816 9 4816 463 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1389G>T p.W463C c.1389G>T p.Trp463Cys c.1389G>T p.Trp463Cys principal1 Y 2 YES - TGG 3 0 . ./. ./. ./. . . . 0.0 0.92824 D 1.0 0.90584 D 0.996 0.84481 D . . . . . . . . . 3.405 0.91733 M . . . . . . 0.255 0.28849 . . . . . . . . . . . . . . . . . 0.484837542351 0.48117 . . 0.660415828228 0.61469 . 0.469253 0.80285 T . . . . . . 3.791044 0.68563 25.3 0.93379668161913421 0.23128 0.85740 0.44906 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 4.454000 0.59807 0.613000 0.30239 0.291000 0.18778 1.000000 0.71638 0.446000 0.26406 0.348000 0.25613 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14816 C G W C rs200377821 9 14816 9 4816 463 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1389G>C p.W463C c.1389G>C p.Trp463Cys c.1389G>C p.Trp463Cys principal1 Y 2 YES - TGG 3 0 . ./. ./. ./. . . . 0.0 0.92824 D 1.0 0.90584 D 0.996 0.84481 D . . . . . . . . . 3.405 0.91733 M . . . . . . 0.255 0.28849 . . . . . . . . . . . . . . . . . . . . . 0.660415828228 0.61469 . 0.469253 0.80285 T . . . . . . 3.817313 0.69412 25.4 0.90489758588391445 0.19747 0.88088 0.47865 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 4.454000 0.59807 0.613000 0.30239 0.291000 0.18778 1.000000 0.71638 0.446000 0.26406 0.348000 0.25613 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 136 0.027156549520766772 3 0.0022692889561270802 38 0.03777335984095427 76 0.10951008645533142 0 0.0 19 0.019427402862985686 . . . . . . 28 0.010130246020260492 373 0.051165980795610425 6201 5.578e-02 5012 6.588e-02 53 1.493e-02 1402 1.737e-01 0 0 362 8.635e-02 2735 6.543e-02 432 3.816e-02 5576 5.731e-02 4517 6.731e-02 41 1.464e-02 1368 1.746e-01 0 0 362 8.635e-02 2295 6.638e-02 430 3.820e-02 4449 5.432e-02 3570 6.595e-02 53 1.497e-02 1401 1.738e-01 0 0 207 9.700e-02 1456 5.951e-02 432 3.819e-02 segdup 12648 207634 6.091488e-02 1060 100 9976 1.002406e-02 2 4396 30524 1.440178e-01 272 266 8416 3.160646e-02 30 0 16620 0 0 1526 18698 8.161301e-02 167 5270 92724 5.683534e-02 467 811 25520 3.177900e-02 90 4396 30524 1.440178e-01 272 5851 90904 6.436460e-02 509 32 4486 7.133304e-03 1 2197 15076 1.457283e-01 138 55 1816 3.028634e-02 5 0 7944 0 0 980 11780 8.319185e-02 111 2060 35194 5.853270e-02 202 436 12970 3.361604e-02 45 2197 15076 1.457283e-01 138 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ENSG00000181404.13 Whole_Blood . 9 14816 C T W X . 9 14816 9 4816 463 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1389G>A p.W463X c.1389G>A p.Trp463* c.1389G>A p.Trp463Ter principal1 Y 2 YES - TGG 3 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.142 0.14196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.011154 0.96400 36 0.94063479612698608 0.24201 0.84748 0.43836 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 4.454000 0.59807 0.613000 0.30239 0.291000 0.18778 1.000000 0.71638 0.446000 0.26406 0.348000 0.25613 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14817 C A W L . 9 14817 9 4817 463 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1388G>T p.W463L c.1388G>T p.Trp463Leu c.1388G>T p.Trp463Leu principal1 Y 2 YES - TGG 2 0 . ./. ./. ./. . . . 0.0 0.92824 D 0.997 0.70673 D 0.986 0.76916 D . . . . . . . . . 3.405 0.91733 M . . . . . . 0.518 0.54845 . . . . . . . . . . . . . . . . . 0.566084962815 0.56271 . . 0.663664579391 0.61933 . 0.469253 0.80285 T . . . . . . 3.839348 0.70126 25.5 0.93373393225799839 0.23118 0.91512 0.53686 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 6.152000 0.71601 0.613000 0.30239 0.291000 0.18778 1.000000 0.71638 0.442000 0.26343 0.335000 0.25317 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14817 C G W S . 9 14817 9 4817 463 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1388G>C p.W463S c.1388G>C p.Trp463Ser c.1388G>C p.Trp463Ser principal1 Y 2 YES - TGG 2 0 . ./. ./. ./. . . . 0.0 0.92824 D 0.999 0.77913 D 0.994 0.82059 D . . . . . . . . . 3.405 0.91733 M . . . . . . 0.529 0.55799 . . . . . . . . . . . . . . . . . 0.582170006919 0.57888 . . 0.650804042816 0.60100 . 0.469253 0.80285 T . . . . . . 3.960119 0.74037 26.2 0.90468550278268378 0.19727 0.91969 0.54656 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 6.152000 0.71601 0.613000 0.30239 0.291000 0.18778 1.000000 0.71638 0.442000 0.26343 0.335000 0.25317 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14817 C T W X rs773931818 9 14817 9 4817 463 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1388G>A p.W463X c.1388G>A p.Trp463* c.1388G>A p.Trp463Ter principal1 Y 2 YES - TGG 2 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.142 0.14196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6.252324 0.96711 36 0.94046653076712772 0.24172 0.89621 0.50203 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 6.152000 0.71601 0.613000 0.30239 0.291000 0.18778 1.000000 0.71638 0.442000 0.26343 0.335000 0.25317 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 1 9.024e-06 1 1.311e-05 0 0 0 0 0 0 0 0 1 2.386e-05 0 0 1 1.031e-05 1 1.485e-05 0 0 0 0 0 0 0 0 1 2.882e-05 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14818 A C W G . 9 14818 9 4818 463 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1387T>G p.W463G c.1387T>G p.Trp463Gly c.1387T>G p.Trp463Gly principal1 Y 2 YES - TGG 1 0 . ./. ./. ./. . . . 0.0 0.92824 D 0.997 0.70673 D 0.986 0.76916 D . . . . . . . . . 3.405 0.91733 M . . . . . . 0.535 0.56317 . . . . . . . . . . . . . . . . . 0.500931478032 0.49731 . . 0.636498868465 0.58067 . 0.469253 0.80285 T . . . . . . 3.922963 0.72836 26.0 0.89949205945307864 0.19245 0.88149 0.47950 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 5.529000 0.66849 0.771000 0.31159 0.359000 0.20063 1.000000 0.71638 0.430000 0.26153 0.320000 0.24970 1.0:0.0:0.0:0.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14818 A G W R . 9 14818 9 4818 463 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1387T>C p.W463R c.1387T>C p.Trp463Arg c.1387T>C p.Trp463Arg principal1 Y 2 YES - TGG 1 0 . ./. ./. ./. . . . 0.0 0.92824 D 0.999 0.77913 D 0.996 0.84481 D . . . . . . . . . 3.405 0.91733 M . . . . . . 0.644 0.65587 . . . . . . . . . . . . . . . . . 0.469000238065 0.46524 . . 0.690675973892 0.65804 . 0.469253 0.80285 T . . . . . . 3.819859 0.69500 25.5 0.89714139898219292 0.19036 0.83432 0.42550 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 5.529000 0.66849 0.771000 0.31159 0.359000 0.20063 1.000000 0.71638 0.430000 0.26153 0.320000 0.24970 1.0:0.0:0.0:0.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14818 A T W R . 9 14818 9 4818 463 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1387T>A p.W463R c.1387T>A p.Trp463Arg c.1387T>A p.Trp463Arg principal1 Y 2 YES - TGG 1 0 . ./. ./. ./. . . . 0.0 0.92824 D 0.999 0.77913 D 0.996 0.84481 D . . . . . . . . . 3.405 0.91733 M . . . . . . 0.644 0.65587 . . . . . . . . . . . . . . . . . 0.469000238065 0.46524 . . 0.690675973892 0.65804 . 0.469253 0.80285 T . . . . . . 3.778541 0.68163 25.3 0.94470274359964945 0.24918 0.86998 0.46409 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 5.529000 0.66849 0.771000 0.31159 0.359000 0.20063 1.000000 0.71638 0.430000 0.26153 0.320000 0.24970 1.0:0.0:0.0:0.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14819 G C D E . 9 14819 9 4819 462 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1386C>G p.D462E c.1386C>G p.Asp462Glu c.1386C>G p.Asp462Glu principal1 Y 2 YES - GAC 3 2 . ./. ./. ./. . . . 0.098 0.39040 T 0.032 0.20242 B 0.012 0.16012 B . . . . . . . . . 1.92 0.51302 L . . . . . . 0.164 0.17278 . . . . . . . . . . . . . . . . . 0.221734844693 0.21761 . . 0.634740710258 0.57816 . 0.126455 0.45284 T . . . . . . 2.275290 0.29577 21.3 0.87671274189978621 0.17396 0.82783 0.41965 D AEFBI . . . . . . . . . 9.85617659981166E-5 0.04910 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.133491 0.26123 1.18 1.18 0.20058 3.120000 0.50123 0.697000 0.30661 0.325000 0.19437 1.000000 0.71638 0.404000 0.25742 0.301000 0.24523 0.0:0.0:1.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14819 G T D E . 9 14819 9 4819 462 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1386C>A p.D462E c.1386C>A p.Asp462Glu c.1386C>A p.Asp462Glu principal1 Y 2 YES - GAC 3 2 . ./. ./. ./. . . . 0.098 0.39040 T 0.032 0.20242 B 0.012 0.16012 B . . . . . . . . . 1.92 0.51302 L . . . . . . 0.164 0.17278 . . . . . . . . . . . . . . . . . 0.221734844693 0.21761 . . 0.634740710258 0.57816 . 0.126455 0.45284 T . . . . . . 2.255119 0.29173 21.3 0.91985092598109564 0.21317 0.79974 0.39739 D AEFBI . . . . . . . . . 9.85617659981166E-5 0.04910 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.133491 0.26123 1.18 1.18 0.20058 3.120000 0.50123 0.697000 0.30661 0.325000 0.19437 1.000000 0.71638 0.404000 0.25742 0.301000 0.24523 0.0:0.0:1.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14820 T A D V . 9 14820 9 4820 462 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1385A>T p.D462V c.1385A>T p.Asp462Val c.1385A>T p.Asp462Val principal1 Y 2 YES - GAC 2 0 . ./. ./. ./. . . . 0.052 0.47581 T 0.987 0.61912 D 0.726 0.55126 P . . . . . . . . . 2.815 0.81989 M . . . . . . 0.509 0.54059 . . . . . . . . . . . . . . . . . 0.579595062312 0.57630 . . 0.610859572887 0.54437 . 0.18193 0.53377 T . . . . . . 3.528517 0.60375 24.3 0.94303372248180306 0.24615 0.80970 0.40476 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 3.613000 0.53894 0.675000 0.30527 0.319000 0.19345 1.000000 0.71638 0.354000 0.24939 0.277000 0.23942 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14820 T C D G . 9 14820 9 4820 462 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1385A>G p.D462G c.1385A>G p.Asp462Gly c.1385A>G p.Asp462Gly principal1 Y 2 YES - GAC 2 0 . ./. ./. ./. . . . 0.079 0.42086 T 0.914 0.50529 P 0.516 0.48072 P . . . . . . . . . 2.815 0.81989 M . . . . . . 0.439 0.47765 . . . . . . . . . . . . . . . . . 0.33440975612 0.33058 . . 0.623091340065 0.56165 . 0.174188 0.52332 T . . . . . . 3.513067 0.59922 24.3 0.89745413760934145 0.19064 0.80422 0.40064 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 3.613000 0.53894 0.675000 0.30527 0.319000 0.19345 1.000000 0.71638 0.354000 0.24939 0.277000 0.23942 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14820 T G D A . 9 14820 9 4820 462 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1385A>C p.D462A c.1385A>C p.Asp462Ala c.1385A>C p.Asp462Ala principal1 Y 2 YES - GAC 2 0 . ./. ./. ./. . . . 0.142 0.33330 T 0.841 0.46518 P 0.355 0.42984 B . . . . . . . . . 2.19 0.61577 M . . . . . . 0.424 0.46368 . . . . . . . . . . . . . . . . . 0.377799810692 0.37387 . . 0.619850635529 0.55709 . 0.155928 0.49788 T . . . . . . 3.059461 0.47570 23.1 0.90164835237502461 0.19442 0.75364 0.36896 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 3.613000 0.53894 0.675000 0.30527 0.319000 0.19345 1.000000 0.71638 0.354000 0.24939 0.277000 0.23942 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14821 C A D Y rs761521000 9 14821 9 4821 462 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1384G>T p.D462Y c.1384G>T p.Asp462Tyr c.1384G>T p.Asp462Tyr principal1 Y 2 YES - GAC 1 0 . ./. ./. ./. . . . 0.004 0.74150 D 1.0 0.90584 D 0.931 0.66596 D . . . . . . . . . 3.16 0.88528 M . . . . . . 0.541 0.56833 . . . . . . . . . . . . . . . . . 0.549839970675 0.54641 . . 0.653651714325 0.60505 . 0.280975 0.65369 T . . . . . . 2.731047 0.39568 22.5 0.93105350255992736 0.22734 0.74165 0.36277 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 3.467000 0.52842 0.613000 0.30239 0.291000 0.18778 0.988000 0.36536 0.265000 0.23416 0.248000 0.23210 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14821 C G D H . 9 14821 9 4821 462 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1384G>C p.D462H c.1384G>C p.Asp462His c.1384G>C p.Asp462His principal1 Y 2 YES - GAC 1 0 . ./. ./. ./. . . . 0.006 0.70582 D 0.999 0.77913 D 0.902 0.64047 P . . . . . . . . . 3.16 0.88528 M . . . . . . 0.425 0.46462 . . . . . . . . . . . . . . . . . 0.321951552304 0.31805 . . 0.662812888622 0.61811 . 0.272263 0.64464 T . . . . . . 2.698429 0.38805 22.4 0.90223158011487936 0.19496 0.78713 0.38876 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 3.467000 0.52842 0.613000 0.30239 0.291000 0.18778 0.988000 0.36536 0.265000 0.23416 0.248000 0.23210 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14821 C T D N rs761521000 9 14821 9 4821 462 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1384G>A p.D462N c.1384G>A p.Asp462Asn c.1384G>A p.Asp462Asn principal1 Y 2 YES - GAC 1 0 . ./. ./. ./. . . . 0.019 0.59159 D 0.983 0.60381 D 0.454 0.46241 P . . . . . . . . . 3.16 0.88528 M . . . . . . 0.328 0.36884 . . . . . . . . . . . . . . . . . 0.225902525712 0.22197 . . 0.652859687805 0.60392 . 0.210086 0.57049 T . . . . . . 2.574967 0.35991 22.2 0.93814446013218467 0.23791 0.75964 0.37223 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 3.467000 0.52842 0.613000 0.30239 0.291000 0.18778 0.988000 0.36536 0.265000 0.23416 0.248000 0.23210 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 14 1.267e-04 14 1.832e-04 1 2.830e-04 1 1.223e-04 0 0 0 0 11 2.618e-04 0 0 13 1.344e-04 13 1.928e-04 1 3.587e-04 1 1.260e-04 0 0 0 0 11 3.163e-04 0 0 9 1.105e-04 9 1.656e-04 1 2.838e-04 1 1.225e-04 0 0 0 0 6 2.442e-04 0 0 segdup 32 209080 1.530515e-04 5 3 9886 3.034594e-04 1 3 31238 9.603688e-05 1 0 8414 0 0 0 16538 0 0 0 18784 0 0 24 93404 2.569483e-04 3 1 25598 3.906555e-05 0 3 9886 3.034594e-04 1 13 91584 1.419462e-04 2 0 4442 0 0 1 15414 6.487609e-05 0 0 1824 0 0 0 7892 0 0 0 11820 0 0 12 35552 3.375338e-04 2 0 12990 0 0 12 35552 3.375338e-04 2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14822 G C D E . 9 14822 9 4822 461 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1383C>G p.D461E c.1383C>G p.Asp461Glu c.1383C>G p.Asp461Glu principal1 Y 2 YES - GAC 3 2 . ./. ./. ./. . . . 0.192 0.28300 T 0.007 0.14184 B 0.013 0.16460 B . . . . . . . . . 1.735 0.44892 L . . . . . . 0.18 0.19459 . . . . . . . . . . . . . . . . . 0.156986980423 0.15292 . . 0.646926105022 0.59548 . 0.04138 0.25840 T . . . . . . 0.568339 0.05357 8.273 0.87973291162112077 0.17621 0.06468 0.12476 N AEFBI . . . . . . . . . 3.16015660641537E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.133491 0.26123 1.18 0.00486 0.13382 -0.691000 0.05234 -1.197000 0.01901 -0.612000 0.04583 0.140000 0.23505 0.123000 0.20176 0.214000 0.22296 0.6616:0.0:0.3384:0.0 2.8826 0.05304 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14822 G T D E . 9 14822 9 4822 461 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1383C>A p.D461E c.1383C>A p.Asp461Glu c.1383C>A p.Asp461Glu principal1 Y 2 YES - GAC 3 2 . ./. ./. ./. . . . 0.192 0.28300 T 0.007 0.14184 B 0.013 0.16460 B . . . . . . . . . 1.735 0.44892 L . . . . . . 0.18 0.19459 . . . . . . . . . . . . . . . . . 0.156986980423 0.15292 . . 0.646926105022 0.59548 . 0.04138 0.25840 T . . . . . . 0.548168 0.05175 8.084 0.92418065471350941 0.21834 0.06054 0.12024 N AEFBI . . . . . . . . . 3.16015660641537E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.133491 0.26123 1.18 0.00486 0.13382 -0.691000 0.05234 -1.197000 0.01901 -0.612000 0.04583 0.140000 0.23505 0.123000 0.20176 0.214000 0.22296 0.6616:0.0:0.3384:0.0 2.8826 0.05304 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14823 T A D V . 9 14823 9 4823 461 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1382A>T p.D461V c.1382A>T p.Asp461Val c.1382A>T p.Asp461Val principal1 Y 2 YES - GAC 2 0 . ./. ./. ./. . . . 0.003 0.76473 D 0.883 0.48537 P 0.522 0.48285 P . . . . . . . . . 3.18 0.88827 M . . . . . . 0.435 0.47395 . . . . . . . . . . . . . . . . . 0.572106025898 0.56878 . . 0.626567721367 0.56658 . 0.240851 0.60925 T . . . . . . 2.980407 0.45579 22.9 0.93194124544211565 0.22860 0.76805 0.37699 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 2.179000 0.42157 0.768000 0.31129 0.319000 0.19345 0.987000 0.36337 0.119000 0.20051 0.205000 0.22041 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14823 T C D G . 9 14823 9 4823 461 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1382A>G p.D461G c.1382A>G p.Asp461Gly c.1382A>G p.Asp461Gly principal1 Y 2 YES - GAC 2 0 . ./. ./. ./. . . . 0.117 0.36365 T 0.682 0.41464 P 0.321 0.41760 B . . . . . . . . . 2.83 0.82355 M . . . . . . 0.339 0.38027 . . . . . . . . . . . . . . . . . 0.324436698001 0.32047 . . 0.634661197662 0.57805 . 0.140765 0.47547 T . . . . . . 2.136033 0.26855 20.7 0.8821646631579344 0.17805 0.75854 0.37162 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 2.179000 0.42157 0.768000 0.31129 0.319000 0.19345 0.987000 0.36337 0.119000 0.20051 0.205000 0.22041 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14823 T G D A . 9 14823 9 4823 461 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1382A>C p.D461A c.1382A>C p.Asp461Ala c.1382A>C p.Asp461Ala principal1 Y 2 YES - GAC 2 0 . ./. ./. ./. . . . 0.045 0.49390 D 0.518 0.37483 P 0.197 0.36707 B . . . . . . . . . 3.18 0.88827 M . . . . . . 0.385 0.42639 . . . . . . . . . . . . . . . . . 0.367612772649 0.36367 . . 0.63080239296 0.57258 . 0.148896 0.48765 T . . . . . . 2.521436 0.34800 22.1 0.8894826230901931 0.18385 0.73106 0.35765 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 2.179000 0.42157 0.768000 0.31129 0.319000 0.19345 0.987000 0.36337 0.119000 0.20051 0.205000 0.22041 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14824 C A D Y . 9 14824 9 4824 461 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1381G>T p.D461Y c.1381G>T p.Asp461Tyr c.1381G>T p.Asp461Tyr principal1 Y 2 YES - GAC 1 0 . ./. ./. ./. . . . 0.002 0.79402 D 0.994 0.66517 D 0.819 0.59018 P . . . . . . . . . 3.18 0.88827 M . . . . . . 0.384 0.42541 . . . . . . . . . . . . . . . . . 0.548358248517 0.54491 . . 0.669869065285 0.62819 . 0.156495 0.49870 T . . . . . . 3.070427 0.47848 23.1 0.91513550462597471 0.20788 0.88484 0.48433 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 4.567000 0.60566 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.105000 0.19588 0.192000 0.21661 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14824 C G D H rs772931051 9 14824 9 4824 461 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1381G>C p.D461H c.1381G>C p.Asp461His c.1381G>C p.Asp461His principal1 Y 2 YES - GAC 1 0 . ./. ./. ./. . . . 0.004 0.74150 D 0.983 0.60381 D 0.754 0.56161 P . . . . . . . . . 3.18 0.88827 M . . . . . . 0.322 0.36254 . . . . . . . . . . . . . . . . . 0.319686207203 0.31575 . . 0.673725008965 0.63369 . 0.14871 0.48738 T . . . . . . 3.024664 0.46686 23.0 0.88865769575091613 0.18318 0.89101 0.49367 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 4.567000 0.60566 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.105000 0.19588 0.192000 0.21661 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 7 6.342e-05 5 6.523e-05 5 1.406e-03 0 0 0 0 0 0 0 0 0 0 5 5.177e-05 3 4.435e-05 3 1.068e-03 0 0 0 0 0 0 0 0 0 0 7 8.604e-05 5 9.169e-05 5 1.410e-03 0 0 0 0 0 0 0 0 0 0 segdup 7 209524 3.340906e-05 0 7 9894 7.074995e-04 0 0 31250 0 0 0 8432 0 0 0 16538 0 0 0 18784 0 0 0 93742 0 0 0 25654 0 0 7 9894 7.074995e-04 0 3 91786 3.268472e-05 0 3 4452 6.738544e-04 0 0 15438 0 0 0 1834 0 0 0 7896 0 0 0 11804 0 0 0 35688 0 0 0 13028 0 0 3 4452 6.738544e-04 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14824 C T D N rs772931051 9 14824 9 4824 461 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1381G>A p.D461N c.1381G>A p.Asp461Asn c.1381G>A p.Asp461Asn principal1 Y 2 YES - GAC 1 0 . ./. ./. ./. . . . 0.013 0.63109 D 0.682 0.41464 P 0.326 0.41929 B . . . . . . . . . 3.18 0.88827 M . . . . . . 0.265 0.30004 . . . . . . . . . . . . . . . . . 0.224531998449 0.22054 . . 0.663298487663 0.61881 . 0.127201 0.45407 T . . . . . . 2.513948 0.34631 22.0 0.92517438235619465 0.21958 0.85913 0.45102 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 4.567000 0.60566 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.105000 0.19588 0.192000 0.21661 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . segdup 1 209524 4.772723e-06 0 0 9894 0 0 0 31250 0 0 0 8432 0 0 1 16538 6.046680e-05 0 0 18784 0 0 0 93742 0 0 0 25654 0 0 1 16538 6.046680e-05 0 1 91786 1.089491e-05 0 0 4452 0 0 0 15438 0 0 0 1834 0 0 1 7896 1.266464e-04 0 0 11804 0 0 0 35688 0 0 0 13028 0 0 1 7896 1.266464e-04 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14825 C A E D . 9 14825 9 4825 460 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1380G>T p.E460D c.1380G>T p.Glu460Asp c.1380G>T p.Glu460Asp principal1 Y 2 YES - GAG 3 2 . ./. ./. ./. . . . 0.555 0.09267 T 0.007 0.14184 B 0.007 0.12992 B . . . . . . . . . 0.59 0.15444 N . . . . . . 0.22 0.24634 . . . . . . . . . . . . . . . . . 0.203808441222 0.19973 . . 0.630080997944 0.57157 . 0.016998 0.13947 T . . . . . . 1.279957 0.13603 14.85 0.90237351203918947 0.19509 0.48269 0.28169 N AEFBI . . . . . . . . . 3.69188616944827E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.133491 0.26123 1.18 1.18 0.20058 0.483000 0.22001 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.079000 0.18570 0.176000 0.21171 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14825 C G E D . 9 14825 9 4825 460 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1380G>C p.E460D c.1380G>C p.Glu460Asp c.1380G>C p.Glu460Asp principal1 Y 2 YES - GAG 3 2 . ./. ./. ./. . . . 0.555 0.09267 T 0.007 0.14184 B 0.007 0.12992 B . . . . . . . . . 0.59 0.15444 N . . . . . . 0.22 0.24634 . . . . . . . . . . . . . . . . . 0.203808441222 0.19973 . . 0.630080997944 0.57157 . 0.016998 0.13947 T . . . . . . 1.306225 0.13952 15.01 0.84868501271252261 0.15545 0.53030 0.29273 D AEFBI . . . . . . . . . 3.69188616944827E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.133491 0.26123 1.18 1.18 0.20058 0.483000 0.22001 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.079000 0.18570 0.176000 0.21171 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14826 T A E V . 9 14826 9 4826 460 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1379A>T p.E460V c.1379A>T p.Glu460Val c.1379A>T p.Glu460Val principal1 Y 2 YES - GAG 2 0 . ./. ./. ./. . . . 0.204 0.27235 T 0.938 0.52538 P 0.601 0.50808 P . . . . . . . . . 2.295 0.65404 M . . . . . . 0.409 0.44952 . . . . . . . . . . . . . . . . . 0.555475725382 0.55207 . . 0.622046709061 0.56019 . 0.114736 0.43279 T . . . . . . 2.941168 0.44613 22.9 0.91827189604680792 0.21137 0.80877 0.40405 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 2.854000 0.48024 -0.043000 0.13315 0.319000 0.19345 1.000000 0.71638 0.032000 0.15554 0.157000 0.20547 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14826 T C E G . 9 14826 9 4826 460 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1379A>G p.E460G c.1379A>G p.Glu460Gly c.1379A>G p.Glu460Gly principal1 Y 2 YES - GAG 2 0 . ./. ./. ./. . . . 0.104 0.38160 T 0.682 0.41464 P 0.255 0.39216 B . . . . . . . . . 2.84 0.82582 M . . . . . . 0.313 0.35301 . . . . . . . . . . . . . . . . . 0.363751660372 0.35992 . . 0.604404687881 0.53527 . 0.101072 0.40748 T . . . . . . 2.506757 0.34473 22.0 0.86543265156928151 0.16607 0.69859 0.34355 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 2.854000 0.48024 -0.043000 0.13315 0.319000 0.19345 1.000000 0.71638 0.032000 0.15554 0.157000 0.20547 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14826 T G E A . 9 14826 9 4826 460 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1379A>C p.E460A c.1379A>C p.Glu460Ala c.1379A>C p.Glu460Ala principal1 Y 2 YES - GAG 2 0 . ./. ./. ./. . . . 0.193 0.28210 T 0.682 0.41464 P 0.257 0.39298 B . . . . . . . . . 2.84 0.82582 M . . . . . . 0.337 0.37820 . . . . . . . . . . . . . . . . . 0.282179105231 0.27821 . . 0.633786439896 0.57682 . 0.10307 0.41138 T . . . . . . 2.358465 0.31291 21.6 0.87540726580312755 0.17301 0.81925 0.41235 D AEFBI . . . . . . . . . 0.00136137006866891 0.08479 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.639205 0.41544 1.18 1.18 0.20058 2.854000 0.48024 -0.043000 0.13315 0.319000 0.19345 1.000000 0.71638 0.032000 0.15554 0.157000 0.20547 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14827 C A E X . 9 14827 9 4827 460 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1378G>T p.E460X c.1378G>T p.Glu460* c.1378G>T p.Glu460Ter principal1 Y 2 YES - GAG 1 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.087 0.06454 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.687987 0.93262 33 0.90546905255325716 0.19802 0.82645 0.41844 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 3.564000 0.53536 -0.646000 0.04364 0.291000 0.18778 0.986000 0.36153 0.005000 0.09756 0.134000 0.19723 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14827 C G E Q . 9 14827 9 4827 460 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1378G>C p.E460Q c.1378G>C p.Glu460Gln c.1378G>C p.Glu460Gln principal1 Y 2 YES - GAG 1 0 . ./. ./. ./. . . . 0.155 0.31936 T 0.917 0.50750 P 0.552 0.49293 P . . . . . . . . . 2.495 0.72670 M . . . . . . 0.284 0.32148 . . . . . . . . . . . . . . . . . 0.211220785272 0.20719 . . 0.614135742188 0.54900 . 0.077629 0.35699 T . . . . . . 2.140641 0.26944 20.7 0.87634236357686934 0.17369 0.83623 0.42728 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 3.564000 0.53536 -0.646000 0.04364 0.291000 0.18778 0.986000 0.36153 0.005000 0.09756 0.134000 0.19723 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14827 C T E K rs760624892 9 14827 9 4827 460 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1378G>A p.E460K c.1378G>A p.Glu460Lys c.1378G>A p.Glu460Lys principal1 Y 2 YES - GAG 1 0 . ./. ./. ./. . . . 0.246 0.23984 T 0.923 0.51194 P 0.207 0.37187 B . . . . . . . . . 2.84 0.82582 M . . . . . . 0.356 0.39760 . . . . . . . . . . . . . . . . . 0.195762928549 0.19159 . . 0.685039639473 0.64993 . 0.141073 0.47594 T . . . . . . 1.863485 0.22054 18.68 0.91745654051931957 0.21045 0.69572 0.34241 D AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.661412 0.42004 1.18 1.18 0.20058 3.564000 0.53536 -0.646000 0.04364 0.291000 0.18778 0.986000 0.36153 0.005000 0.09756 0.134000 0.19723 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 12 1.085e-04 8 1.041e-04 0 0 0 0 0 0 0 0 0 0 8 7.015e-04 12 1.240e-04 8 1.180e-04 0 0 0 0 0 0 0 0 0 0 8 7.053e-04 12 1.472e-04 8 1.464e-04 0 0 0 0 0 0 0 0 0 0 8 7.020e-04 segdup 19 210374 9.031534e-05 1 0 9960 0 0 0 31310 0 0 0 8466 0 0 0 16550 0 0 0 18838 0 0 1 94248 1.061030e-05 0 17 25756 6.600404e-04 1 17 25756 6.600404e-04 1 7 92080 7.602085e-05 1 0 4486 0 0 0 15456 0 0 0 1852 0 0 0 7898 0 0 0 11820 0 0 0 35854 0 0 7 13062 5.359057e-04 1 7 13062 5.359057e-04 1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14828 G C D E rs766261270 9 14828 9 4828 459 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1377C>G p.D459E c.1377C>G p.Asp459Glu c.1377C>G p.Asp459Glu principal1 Y 2 YES - GAC 3 2 . ./. ./. ./. . . . 0.104 0.38160 T 0.997 0.70673 D 0.988 0.77976 D . . . . . . . . . 1.335 0.33326 L . . . . . . 0.199 0.21969 . . . . . . . . . . . . . . . . . 0.0297737177859 0.01360 . . 0.646188795567 0.59444 . 0.045586 0.27166 T . . . . . . 1.283172 0.13646 14.87 0.53125233132960037 0.04879 0.06784 0.12808 N AEFBI . . . . . . . . . 2.81601227280718E-4 0.06355 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 -2.36 0.06282 -0.752000 0.04902 -3.379000 0.00165 -2.949000 0.00152 0.028000 0.20300 0.000000 0.01923 0.107000 0.18608 0.57:0.0:0.43:0.0 7.5219 0.26801 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 5 4.532e-05 4 5.202e-05 0 0 0 0 0 0 0 0 4 9.431e-05 0 0 5 5.179e-05 4 5.896e-05 0 0 0 0 0 0 0 0 4 1.140e-04 0 0 1 1.230e-05 0 0 0 0 0 0 0 0 0 0 0 0 0 0 segdup 7 207920 3.366679e-05 0 0 9566 0 0 0 30916 0 0 0 8396 0 0 0 16318 0 0 0 18778 0 0 7 93304 7.502358e-05 0 0 25470 0 0 7 93304 7.502358e-05 0 3 91084 3.293663e-05 0 0 4314 0 0 0 15286 0 0 0 1826 0 0 0 7782 0 0 0 11784 0 0 3 35540 8.441193e-05 0 0 12934 0 0 3 35540 8.441193e-05 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14828 G T D E . 9 14828 9 4828 459 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1377C>A p.D459E c.1377C>A p.Asp459Glu c.1377C>A p.Asp459Glu principal1 Y 2 YES - GAC 3 2 . ./. ./. ./. . . . 0.104 0.38160 T 0.997 0.70673 D 0.988 0.77976 D . . . . . . . . . 1.335 0.33326 L . . . . . . 0.199 0.21969 . . . . . . . . . . . . . . . . . 0.0297737177859 0.01360 . . 0.646188795567 0.59444 . 0.045586 0.27166 T . . . . . . 1.263001 0.13382 14.75 0.74245870240139034 0.10624 0.06065 0.12037 N AEFBI . . . . . . . . . 2.81601227280718E-4 0.06355 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 -2.36 0.06282 -0.752000 0.04902 -3.379000 0.00165 -2.949000 0.00152 0.028000 0.20300 0.000000 0.01923 0.107000 0.18608 0.57:0.0:0.43:0.0 7.5219 0.26801 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14829 T A D V . 9 14829 9 4829 459 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1376A>T p.D459V c.1376A>T p.Asp459Val c.1376A>T p.Asp459Val principal1 Y 2 YES - GAC 2 0 . ./. ./. ./. . . . 0.001 0.83351 D 0.999 0.77913 D 0.996 0.84481 D . . . . . . . . . 3.005 0.85968 M . . . . . . 0.43 0.46928 . . . . . . . . . . . . . . . . . 0.556342864924 0.55293 . . 0.627394199371 0.56776 . 0.227198 0.59242 T . . . . . . 3.726281 0.66486 25.0 0.91271885347986759 0.20530 0.89846 0.50579 D AEFBI . . . . . . . . . 9.9177562407681E-4 0.08103 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.62014 0.41158 0.973 0.973 0.18829 4.532000 0.60321 0.768000 0.31129 0.304000 0.19002 1.000000 0.71638 0.005000 0.09756 0.130000 0.19568 0.0:0.0:0.0:1.0 4.2395 0.10094 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14829 T C D G . 9 14829 9 4829 459 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1376A>G p.D459G c.1376A>G p.Asp459Gly c.1376A>G p.Asp459Gly principal1 Y 2 YES - GAC 2 0 . ./. ./. ./. . . . 0.064 0.44905 T 0.997 0.70673 D 0.989 0.78396 D . . . . . . . . . 3.005 0.85968 M . . . . . . 0.388 0.42931 . . . . . . . . . . . . . . . . . 0.305086939656 0.30112 . . 0.632757902145 0.57536 . 0.13673 0.46928 T . . . . . . 3.772330 0.67963 25.2 0.84834294483314843 0.15525 0.88558 0.48542 D AEFBI . . . . . . . . . 9.9177562407681E-4 0.08103 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.62014 0.41158 0.973 0.973 0.18829 4.532000 0.60321 0.768000 0.31129 0.304000 0.19002 1.000000 0.71638 0.005000 0.09756 0.130000 0.19568 0.0:0.0:0.0:1.0 4.2395 0.10094 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14829 T G D A . 9 14829 9 4829 459 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1376A>C p.D459A c.1376A>C p.Asp459Ala c.1376A>C p.Asp459Ala principal1 Y 2 YES - GAC 2 0 . ./. ./. ./. . . . 0.008 0.67890 D 0.999 0.77913 D 0.994 0.82059 D . . . . . . . . . 3.005 0.85968 M . . . . . . 0.39 0.43126 . . . . . . . . . . . . . . . . . 0.350524144436 0.34660 . . 0.63085091114 0.57266 . 0.224743 0.58927 T . . . . . . 3.751952 0.67302 25.2 0.85707849942807457 0.16062 0.90337 0.51433 D AEFBI . . . . . . . . . 9.9177562407681E-4 0.08103 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.62014 0.41158 0.973 0.973 0.18829 4.532000 0.60321 0.768000 0.31129 0.304000 0.19002 1.000000 0.71638 0.005000 0.09756 0.130000 0.19568 0.0:0.0:0.0:1.0 4.2395 0.10094 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14830 C A D Y rs1316422264 9 14830 9 4830 459 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1375G>T p.D459Y c.1375G>T p.Asp459Tyr c.1375G>T p.Asp459Tyr principal1 Y 2 YES - GAC 1 0 . ./. ./. ./. . . . 0.004 0.74150 D 1.0 0.90584 D 0.997 0.86255 D . . . . . . . . . 2.655 0.77738 M . . . . . . 0.409 0.44952 . . . . . . . . . . . . . . . . . 0.520640030592 0.51707 . . 0.663079977036 0.61850 . 0.230149 0.59614 T . . . . . . 3.258562 0.52785 23.6 0.9169689136884942 0.20990 0.87591 0.47181 D AEFBI . . . . . . . . . 0.00467998057656404 0.10667 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.643772 0.41640 0.973 0.973 0.18829 3.450000 0.52720 0.696000 0.30653 0.277000 0.18592 0.997000 0.40164 0.007000 0.10786 0.148000 0.20235 0.0:1.0:0.0:0.0 5.362 0.15396 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14830 C G D H rs1316422264 9 14830 9 4830 459 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1375G>C p.D459H c.1375G>C p.Asp459His c.1375G>C p.Asp459His principal1 Y 2 YES - GAC 1 0 . ./. ./. ./. . . . 0.008 0.67890 D 1.0 0.90584 D 0.997 0.86255 D . . . . . . . . . 3.005 0.85968 M . . . . . . 0.368 0.40963 . . . . . . . . . . . . . . . . . 0.290222751274 0.28632 . . 0.669047057629 0.62702 . 0.22429 0.58868 T . . . . . . 3.239063 0.52261 23.5 0.88510677553175809 0.18034 0.88295 0.48158 D AEFBI . . . . . . . . . 0.00467998057656404 0.10667 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.643772 0.41640 0.973 0.973 0.18829 3.450000 0.52720 0.696000 0.30653 0.277000 0.18592 0.997000 0.40164 0.007000 0.10786 0.148000 0.20235 0.0:1.0:0.0:0.0 5.362 0.15396 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14830 C T D N rs1316422264 9 14830 9 4830 459 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1375G>A p.D459N c.1375G>A p.Asp459Asn c.1375G>A p.Asp459Asn principal1 Y 2 YES - GAC 1 0 . ./. ./. ./. . . . 0.066 0.44501 T 0.997 0.70673 D 0.989 0.78396 D . . . . . . . . . 1.855 0.49169 L . . . . . . 0.192 0.21056 . . . . . . . . . . . . . . . . . 0.19670166235 0.19296 . . 0.660496115685 0.61480 . 0.102035 0.40938 T . . . . . . 3.239775 0.52281 23.5 0.93193310256631723 0.22859 0.83126 0.42270 D AEFBI . . . . . . . . . 0.00467998057656404 0.10667 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.643772 0.41640 0.973 0.973 0.18829 3.450000 0.52720 0.696000 0.30653 0.277000 0.18592 0.997000 0.40164 0.007000 0.10786 0.148000 0.20235 0.0:1.0:0.0:0.0 5.362 0.15396 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14831 C A E D . 9 14831 9 4831 458 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1374G>T p.E458D c.1374G>T p.Glu458Asp c.1374G>T p.Glu458Asp principal1 Y 2 YES - GAG 3 2 . ./. ./. ./. . . . 0.963 0.02529 T 0.004 0.12183 B 0.002 0.06944 B . . . . . . . . . 0.41 0.12415 N . . . . . . 0.129 0.12341 . . . . . . . . . . . . . . . . . 0.101711395817 0.09552 . . 0.625064432621 0.56445 . 0.015372 0.12908 T . . . . . . 1.264087 0.13395 14.76 0.93343785154690884 0.23075 0.10128 0.15719 N AEFBI . . . . . . . . . 3.78218408221155E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 0.973 0.0178 0.13434 -0.451000 0.06869 -0.092000 0.12470 0.277000 0.18592 0.493000 0.26902 0.007000 0.10786 0.164000 0.20782 0.0:0.7013:0.0:0.2987 3.3423 0.06706 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 2 1.815e-05 2 2.592e-05 1 2.807e-04 0 0 0 0 0 0 1 2.349e-05 0 0 1 1.037e-05 1 1.469e-05 1 3.536e-04 0 0 0 0 0 0 0 0 0 0 2 2.462e-05 2 3.645e-05 1 2.815e-04 0 0 0 0 0 0 1 4.014e-05 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14831 C G E D rs758468440 9 14831 9 4831 458 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1374G>C p.E458D c.1374G>C p.Glu458Asp c.1374G>C p.Glu458Asp principal1 Y 2 YES - GAG 3 2 . ./. ./. ./. . . . 0.963 0.02529 T 0.004 0.12183 B 0.002 0.06944 B . . . . . . . . . 0.41 0.12415 N . . . . . . 0.129 0.12341 . . . . . . . . . . . . . . . . . 0.101711395817 0.09552 . . 0.625064432621 0.56445 . 0.015372 0.12908 T . . . . . . 1.290356 0.13740 14.91 0.87802780541476078 0.17493 0.09637 0.15348 N AEFBI . . . . . . . . . 3.78218408221155E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 0.973 0.0178 0.13434 -0.451000 0.06869 -0.092000 0.12470 0.277000 0.18592 0.493000 0.26902 0.007000 0.10786 0.164000 0.20782 0.0:0.7013:0.0:0.2987 3.3423 0.06706 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 5 4.536e-05 5 6.481e-05 0 0 1 1.219e-04 0 0 0 0 4 9.395e-05 0 0 5 5.186e-05 5 7.345e-05 0 0 1 1.256e-04 0 0 0 0 4 1.135e-04 0 0 1 1.231e-05 1 1.823e-05 0 0 1 1.220e-04 0 0 0 0 0 0 0 0 segdup 7 208138 3.363153e-05 0 1 9554 1.046682e-04 0 1 30950 3.231018e-05 0 0 8396 0 0 0 16326 0 0 0 18782 0 0 5 93480 5.348738e-05 0 0 25482 0 0 1 9554 1.046682e-04 0 3 91208 3.289185e-05 0 0 4312 0 0 0 15312 0 0 0 1830 0 0 0 7762 0 0 0 11778 0 0 3 35672 8.409957e-05 0 0 12930 0 0 3 35672 8.409957e-05 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14832 T A E V . 9 14832 9 4832 458 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1373A>T p.E458V c.1373A>T p.Glu458Val c.1373A>T p.Glu458Val principal1 Y 2 YES - GAG 2 0 . ./. ./. ./. . . . 0.022 0.57587 D 0.895 0.49247 P 0.328 0.42011 B . . . . . . . . . 2.535 0.73915 M . . . . . . 0.284 0.32148 . . . . . . . . . . . . . . . . . 0.531245695338 0.52774 . . 0.615060985088 0.55031 . 0.083741 0.37123 T . . . . . . 3.287205 0.53556 23.6 0.9039743739944609 0.19659 0.77494 0.38108 D AEFBI . . . . . . . . . 8.25638951233016E-5 0.04703 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 4.561000 0.60519 0.768000 0.31129 0.319000 0.19345 1.000000 0.71638 0.008000 0.11198 0.177000 0.21203 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14832 T C E G . 9 14832 9 4832 458 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1373A>G p.E458G c.1373A>G p.Glu458Gly c.1373A>G p.Glu458Gly principal1 Y 2 YES - GAG 2 0 . ./. ./. ./. . . . 0.088 0.40586 T 0.002 0.09854 B 0.004 0.10090 B . . . . . . . . . 1.295 0.32453 L . . . . . . 0.178 0.19190 . . . . . . . . . . . . . . . . . 0.341226946553 0.33730 . . 0.604556679726 0.53548 . 0.039603 0.25247 T . . . . . . 2.835320 0.42038 22.7 0.8090589032930553 0.13425 0.71816 0.35178 D AEFBI . . . . . . . . . 8.25638951233016E-5 0.04703 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 4.561000 0.60519 0.768000 0.31129 0.319000 0.19345 1.000000 0.71638 0.008000 0.11198 0.177000 0.21203 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14832 T G E A . 9 14832 9 4832 458 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1373A>C p.E458A c.1373A>C p.Glu458Ala c.1373A>C p.Glu458Ala principal1 Y 2 YES - GAG 2 0 . ./. ./. ./. . . . 0.133 0.34359 T 0.546 0.38028 P 0.069 0.27757 B . . . . . . . . . 2.19 0.61577 M . . . . . . 0.257 0.29081 . . . . . . . . . . . . . . . . . 0.250039746154 0.24611 . . 0.626432836056 0.56640 . 0.039623 0.25253 T . . . . . . 2.698029 0.38799 22.4 0.83332952480452638 0.14668 0.73062 0.35744 D AEFBI . . . . . . . . . 8.25638951233016E-5 0.04703 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 4.561000 0.60519 0.768000 0.31129 0.319000 0.19345 1.000000 0.71638 0.008000 0.11198 0.177000 0.21203 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14833 C A E X . 9 14833 9 4833 458 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1372G>T p.E458X c.1372G>T p.Glu458* c.1372G>T p.Glu458Ter principal1 Y 2 YES - GAG 1 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.124 0.11626 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.915119 0.96293 36 0.90938258077164336 0.20187 0.86558 0.45863 D AEFBI . . . . . . . . . 6.57951969064841E-5 0.04366 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 4.493000 0.60061 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.007000 0.10786 0.187000 0.21511 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14833 C G E Q . 9 14833 9 4833 458 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1372G>C p.E458Q c.1372G>C p.Glu458Gln c.1372G>C p.Glu458Gln principal1 Y 2 YES - GAG 1 0 . ./. ./. ./. . . . 0.052 0.47581 T 0.546 0.38028 P 0.177 0.35687 B . . . . . . . . . 2.535 0.73915 M . . . . . . 0.176 0.18920 . . . . . . . . . . . . . . . . . 0.208816687407 0.20498 . . 0.616278290749 0.55203 . 0.043919 0.26654 T . . . . . . 2.291625 0.29909 21.4 0.86140783008269928 0.16340 0.87236 0.46715 D AEFBI . . . . . . . . . 6.57951969064841E-5 0.04366 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 4.493000 0.60061 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.007000 0.10786 0.187000 0.21511 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14833 C T E K rs1265213752 9 14833 9 4833 458 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1372G>A p.E458K c.1372G>A p.Glu458Lys c.1372G>A p.Glu458Lys principal1 Y 2 YES - GAG 1 0 . ./. ./. ./. . . . 0.14 0.33554 T 0.546 0.38028 P 0.073 0.28123 B . . . . . . . . . 2.535 0.73915 M . . . . . . 0.232 0.26111 . . . . . . . . . . . . . . . . . 0.192905019026 0.18896 . . 0.670537114143 0.62914 . 0.046035 0.27302 T . . . . . . 2.855562 0.42526 22.7 0.92207151647553642 0.21578 0.79847 0.39649 D AEFBI . . . . . . . . . 6.57951969064841E-5 0.04366 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 4.493000 0.60061 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.007000 0.10786 0.187000 0.21511 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14834 C A E D . 9 14834 9 4834 457 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1371G>T p.E457D c.1371G>T p.Glu457Asp c.1371G>T p.Glu457Asp principal1 Y 2 YES - GAG 3 2 . ./. ./. ./. . . . 0.526 0.10245 T 0.003 0.11197 B 0.003 0.08700 B . . . . . . . . . 0.53 0.13656 N . . . . . . 0.1 0.08227 . . . . . . . . . . . . . . . . . 0.132336055621 0.12781 . . 0.642917633057 0.58979 . 0.018565 0.14942 T . . . . . . 1.499845 0.16592 16.16 0.92531593898198106 0.21977 0.38016 0.25893 N AEFBI . . . . . . . . . 3.15566974986614E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 0.251 0.14799 0.064000 0.14310 -0.645000 0.04370 -0.669000 0.04307 0.977000 0.34929 0.003000 0.08214 0.195000 0.21750 0.0:0.7409:0.0:0.2591 3.7349 0.08034 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14834 C G E D rs757444238 9 14834 9 4834 457 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1371G>C p.E457D c.1371G>C p.Glu457Asp c.1371G>C p.Glu457Asp principal1 Y 2 YES - GAG 3 2 . ./. ./. ./. . . . 0.526 0.10245 T 0.003 0.11197 B 0.003 0.08700 B . . . . . . . . . 0.53 0.13656 N . . . . . . 0.1 0.08227 . . . . . . . . . . . . . . . . . 0.132336055621 0.12781 . . 0.642917633057 0.58979 . 0.018565 0.14942 T . . . . . . 1.526114 0.16961 16.32 0.82959930756878686 0.14466 0.41329 0.26633 N AEFBI . . . . . . . . . 3.15566974986614E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 0.251 0.14799 0.064000 0.14310 -0.645000 0.04370 -0.669000 0.04307 0.977000 0.34929 0.003000 0.08214 0.195000 0.21750 0.0:0.7409:0.0:0.2591 3.7349 0.08034 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 1 9.082e-06 1 1.294e-05 1 2.807e-04 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . 1 1.232e-05 1 1.819e-05 1 2.815e-04 0 0 0 0 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14835 T A E V . 9 14835 9 4835 457 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1370A>T p.E457V c.1370A>T p.Glu457Val c.1370A>T p.Glu457Val principal1 Y 2 YES - GAG 2 0 . ./. ./. ./. . . . 0.154 0.32040 T 0.938 0.52538 P 0.601 0.50808 P . . . . . . . . . 2.27 0.64531 M . . . . . . 0.262 0.29659 . . . . . . . . . . . . . . . . . 0.539388553722 0.53591 . . 0.632313132286 0.57473 . 0.099376 0.40412 T . . . . . . 3.288637 0.53596 23.6 0.91590054435617352 0.20871 0.68267 0.33738 D AEFBI . . . . . . . . . 8.25638951233016E-5 0.04703 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 3.782000 0.55107 -0.047000 0.13180 0.319000 0.19345 1.000000 0.71638 0.004000 0.09077 0.225000 0.22599 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14835 T C E G . 9 14835 9 4835 457 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1370A>G p.E457G c.1370A>G p.Glu457Gly c.1370A>G p.Glu457Gly principal1 Y 2 YES - GAG 2 0 . ./. ./. ./. . . . 0.189 0.28575 T 0.682 0.41464 P 0.197 0.36707 B . . . . . . . . . 2.615 0.76484 M . . . . . . 0.207 0.22998 . . . . . . . . . . . . . . . . . 0.346768085243 0.34289 . . 0.618093669415 0.55459 . 0.038835 0.24981 T . . . . . . 2.810340 0.41439 22.6 0.84890671169624921 0.15559 0.68767 0.33927 D AEFBI . . . . . . . . . 8.25638951233016E-5 0.04703 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 3.782000 0.55107 -0.047000 0.13180 0.319000 0.19345 1.000000 0.71638 0.004000 0.09077 0.225000 0.22599 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14835 T G E A . 9 14835 9 4835 457 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1370A>C p.E457A c.1370A>C p.Glu457Ala c.1370A>C p.Glu457Ala principal1 Y 2 YES - GAG 2 0 . ./. ./. ./. . . . 0.307 0.19908 T 0.682 0.41464 P 0.257 0.39298 B . . . . . . . . . 1.715 0.44382 L . . . . . . 0.203 0.22486 . . . . . . . . . . . . . . . . . 0.259761712551 0.25597 . . 0.645223736763 0.59306 . 0.04463 0.26875 T . . . . . . 2.626278 0.37148 22.3 0.86889520908946061 0.16842 0.53949 0.29496 D AEFBI . . . . . . . . . 8.25638951233016E-5 0.04703 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 3.782000 0.55107 -0.047000 0.13180 0.319000 0.19345 1.000000 0.71638 0.004000 0.09077 0.225000 0.22599 0.0:0.0:0.0:1.0 4.6078 0.11778 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14836 C A E X rs781706994 9 14836 9 4836 457 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1369G>T p.E457X c.1369G>T p.Glu457* c.1369G>T p.Glu457Ter principal1 Y 2 YES - GAG 1 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.116 0.10483 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.783872 0.96158 35 0.94065180355199063 0.24202 0.58622 0.30691 D AEFBI . . . . . . . . . 4.08860757722299E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 1.989000 0.40328 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.005000 0.09756 0.250000 0.23263 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 10 9.137e-05 9 1.166e-04 0 0 9 1.097e-03 0 0 0 0 0 0 0 0 10 1.045e-04 9 1.321e-04 0 0 9 1.130e-03 0 0 0 0 0 0 0 0 10 1.239e-04 9 1.639e-04 0 0 9 1.098e-03 0 0 0 0 0 0 0 0 segdup 12 209822 5.719133e-05 0 0 9806 0 0 12 31248 3.840246e-04 0 0 8456 0 0 0 16486 0 0 0 18764 0 0 0 94084 0 0 0 25736 0 0 12 31248 3.840246e-04 0 4 91932 4.351042e-05 0 0 4418 0 0 4 15464 2.586653e-04 0 0 1858 0 0 0 7842 0 0 0 11744 0 0 0 35892 0 0 0 13064 0 0 4 15464 2.586653e-04 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14836 C G E Q . 9 14836 9 4836 457 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1369G>C p.E457Q c.1369G>C p.Glu457Gln c.1369G>C p.Glu457Gln principal1 Y 2 YES - GAG 1 0 . ./. ./. ./. . . . 0.195 0.28032 T 0.813 0.45457 P 0.398 0.44426 B . . . . . . . . . 2.615 0.76484 M . . . . . . 0.129 0.12341 . . . . . . . . . . . . . . . . . 0.190952846119 0.18690 . . 0.627352356911 0.56770 . 0.035759 0.23843 T . . . . . . 2.207120 0.28223 21.0 0.90398556323523949 0.19660 0.59140 0.30833 D AEFBI . . . . . . . . . 4.08860757722299E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 1.989000 0.40328 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.005000 0.09756 0.250000 0.23263 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14836 C T E K . 9 14836 9 4836 457 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1369G>A p.E457K c.1369G>A p.Glu457Lys c.1369G>A p.Glu457Lys principal1 Y 2 YES - GAG 1 0 . ./. ./. ./. . . . 0.289 0.21078 T 0.682 0.41464 P 0.197 0.36707 B . . . . . . . . . 2.615 0.76484 M . . . . . . 0.227 0.25499 . . . . . . . . . . . . . . . . . 0.177238962908 0.17366 . . 0.69311183691 0.66153 . 0.03862 0.24903 T . . . . . . 2.336073 0.30827 21.6 0.94674060881839195 0.25301 0.39051 0.26126 N AEFBI . . . . . . . . . 4.08860757722299E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 1.989000 0.40328 0.696000 0.30653 0.291000 0.18778 1.000000 0.71638 0.005000 0.09756 0.250000 0.23263 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14838 G A A V rs746196755 9 14838 9 4838 456 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1367C>T p.A456V c.1367C>T p.Ala456Val c.1367C>T p.Ala456Val principal1 Y 2 YES - GCA 2 0 . ./. ./. ./. . . . 0.058 0.46182 T 0.31 0.32798 B 0.091 0.29943 B . . . . . . . . . 1.24 0.30952 L . . . . . . 0.109 0.09490 . . . . . . . . . . . . . . . . . 0.162503812791 0.15892 . . 0.592052817345 0.51784 . 0.042884 0.26325 T . . . . . . 2.485213 0.34000 22.0 0.95574949331413095 0.27272 0.32082 0.24498 N AEFBI . . . . . . . . . 3.11921589875133E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 0.186 0.14386 3.833000 0.55492 -0.699000 0.03960 0.325000 0.19437 1.000000 0.71638 0.002000 0.07038 0.287000 0.24188 0.0:0.5791:0.4209:0.0 5.0657 0.13919 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . segdup 1 210126 4.759049e-06 0 0 9832 0 0 0 31284 0 0 0 8458 0 0 0 16506 0 0 0 18796 0 0 1 94246 1.061053e-05 0 0 25766 0 0 1 94246 1.061053e-05 0 0 92064 0 0 0 4442 0 0 0 15478 0 0 0 1862 0 0 0 7854 0 0 0 11762 0 0 0 35938 0 0 0 13080 0 0 0 0 0 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14838 G C A G rs746196755 9 14838 9 4838 456 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1367C>G p.A456G c.1367C>G p.Ala456Gly c.1367C>G p.Ala456Gly principal1 Y 2 YES - GCA 2 0 . ./. ./. ./. . . . 0.636 0.07059 T 0.0 0.02946 B 0.0 0.01387 B . . . . . . . . . -1.525 0.00485 N . . . . . . 0.072 0.04547 . . . . . . . . . . . . . . . . . 0.1749357433 0.17121 . . 0.570105195045 0.48693 . 0.014389 0.12256 T . . . . . . 1.572788 0.17625 16.61 0.9210562560194866 0.21458 0.06699 0.12719 N AEFBI . . . . . . . . . 3.11921589875133E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 0.186 0.14386 3.833000 0.55492 -0.699000 0.03960 0.325000 0.19437 1.000000 0.71638 0.002000 0.07038 0.287000 0.24188 0.0:0.5791:0.4209:0.0 5.0657 0.13919 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . 5 4.565e-05 5 6.467e-05 0 0 1 1.217e-04 4 6.066e-04 0 0 0 0 0 0 2 2.088e-05 2 2.933e-05 0 0 1 1.254e-04 1 1.663e-04 0 0 0 0 0 0 4 4.954e-05 4 7.271e-05 0 0 1 1.219e-04 3 7.160e-04 0 0 0 0 0 0 segdup 6 210126 2.855430e-05 0 0 9832 0 0 2 31284 6.393044e-05 0 0 8458 0 0 4 16506 2.423361e-04 0 0 18796 0 0 0 94246 0 0 0 25766 0 0 4 16506 2.423361e-04 0 3 92064 3.258603e-05 0 0 4442 0 0 2 15478 1.292157e-04 0 0 1862 0 0 1 7854 1.273237e-04 0 0 11762 0 0 0 35938 0 0 0 13080 0 0 2 15478 1.292157e-04 0 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14838 G T A E . 9 14838 9 4838 456 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1367C>A p.A456E c.1367C>A p.Ala456Glu c.1367C>A p.Ala456Glu principal1 Y 2 YES - GCA 2 0 . ./. ./. ./. . . . 0.214 0.26386 T 0.31 0.32798 B 0.068 0.27651 B . . . . . . . . . 0.895 0.22405 L . . . . . . 0.237 0.26717 . . . . . . . . . . . . . . . . . 0.20549828249 0.20151 . . 0.615841031075 0.55140 . 0.037492 0.24493 T . . . . . . 2.445654 0.33142 21.9 0.95591927654106401 0.27314 0.30376 0.24066 N AEFBI . . . . . . . . . 3.11921589875133E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 0.186 0.14386 3.833000 0.55492 -0.699000 0.03960 0.325000 0.19437 1.000000 0.71638 0.002000 0.07038 0.287000 0.24188 0.0:0.5791:0.4209:0.0 5.0657 0.13919 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14839 C A A S . 9 14839 9 4839 456 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1366G>T p.A456S c.1366G>T p.Ala456Ser c.1366G>T p.Ala456Ser principal1 Y 2 YES - GCA 1 0 . ./. ./. ./. . . . 0.645 0.06859 T 0.044 0.21686 B 0.024 0.20255 B . . . . . . . . . -0.04 0.05001 N . . . . . . 0.096 0.07673 . . . . . . . . . . . . . . . . . 0.1749357433 0.17121 . . 0.564380407333 0.47885 . 0.014448 0.12296 T . . . . . . 1.477628 0.16281 16.03 0.9448343937934558 0.24941 0.40728 0.26501 N AEFBI . . . . . . . . . 3.61243501924645E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 1.18 0.20058 1.821000 0.38680 0.608000 0.30216 0.291000 0.18778 0.930000 0.32276 0.002000 0.07038 0.300000 0.24500 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14839 C G A P . 9 14839 9 4839 456 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1366G>C p.A456P c.1366G>C p.Ala456Pro c.1366G>C p.Ala456Pro principal1 Y 2 YES - GCA 1 0 . ./. ./. ./. . . . 0.039 0.51112 D 0.31 0.32798 B 0.123 0.32463 B . . . . . . . . . 1.24 0.30952 L . . . . . . 0.197 0.21710 . . . . . . . . . . . . . . . . . 0.257292322809 0.25322 . . 0.606202483177 0.53781 . 0.045355 0.27096 T . . . . . . 2.109909 0.26363 20.5 0.90062302596363975 0.19347 0.45472 0.27546 N AEFBI . . . . . . . . . 3.61243501924645E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 1.18 0.20058 1.821000 0.38680 0.608000 0.30216 0.291000 0.18778 0.930000 0.32276 0.002000 0.07038 0.300000 0.24500 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14839 C T A T . 9 14839 9 4839 456 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1366G>A p.A456T c.1366G>A p.Ala456Thr c.1366G>A p.Ala456Thr principal1 Y 2 YES - GCA 1 0 . ./. ./. ./. . . . 0.147 0.32783 T 0.181 0.29111 B 0.068 0.27651 B . . . . . . . . . 0.55 0.14455 N . . . . . . 0.073 0.04668 . . . . . . . . . . . . . . . . . 0.183819452728 0.17975 . . 0.58976984024 0.51462 . 0.037251 0.24405 T . . . . . . 1.653957 0.18807 17.14 0.94963349540690722 0.25884 0.28281 0.23511 N AEFBI . . . . . . . . . 3.61243501924645E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 1.18 0.20058 1.821000 0.38680 0.608000 0.30216 0.291000 0.18778 0.930000 0.32276 0.002000 0.07038 0.300000 0.24500 0.0:1.0:0.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14840 C A Q H rs1295488047 9 14840 9 4840 455 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1365G>T p.Q455H c.1365G>T p.Gln455His c.1365G>T p.Gln455His principal1 Y 2 YES - CAG 3 2 . ./. ./. ./. . . . 0.154 0.32040 T 0.556 0.38244 P 0.123 0.32463 B . . . . . . . . . 0.14 0.08730 N . . . . . . 0.096 0.07673 . . . . . . . . . . . . . . . . . 0.0297737177859 0.01360 . . 0.531081914902 0.43187 . 0.018965 0.15193 T . . . . . . 0.701495 0.06662 9.633 0.94075513547645961 0.24221 0.00500 0.02358 N AEFBI . . . . . . . . . 1.38608502274757E-4 0.05486 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 -2.36 0.06282 -4.834000 0.00210 -0.253000 0.08204 0.291000 0.18778 0.000000 0.06391 0.001000 0.05097 0.311000 0.24761 0.4943:0.3059:0.0:0.1998 2.4265 0.04188 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14840 C G Q H . 9 14840 9 4840 455 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1365G>C p.Q455H c.1365G>C p.Gln455His c.1365G>C p.Gln455His principal1 Y 2 YES - CAG 3 2 . ./. ./. ./. . . . 0.154 0.32040 T 0.556 0.38244 P 0.123 0.32463 B . . . . . . . . . 0.14 0.08730 N . . . . . . 0.096 0.07673 . . . . . . . . . . . . . . . . . 0.0297737177859 0.01360 . . 0.531081914902 0.43187 . 0.018965 0.15193 T . . . . . . 0.727764 0.06937 9.922 0.88824355032899494 0.18285 0.00817 0.03306 N AEFBI . . . . . . . . . 1.38608502274757E-4 0.05486 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 -2.36 0.06282 -4.834000 0.00210 -0.253000 0.08204 0.291000 0.18778 0.000000 0.06391 0.001000 0.05097 0.311000 0.24761 0.4943:0.3059:0.0:0.1998 2.4265 0.04188 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14841 T A Q L . 9 14841 9 4841 455 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1364A>T p.Q455L c.1364A>T p.Gln455Leu c.1364A>T p.Gln455Leu principal1 Y 2 YES - CAG 2 0 . ./. ./. ./. . . . 0.276 0.21947 T 0.002 0.09854 B 0.002 0.06944 B . . . . . . . . . 0.345 0.11182 N . . . . . . 0.119 0.10911 . . . . . . . . . . . . . . . . . 0.373897652646 0.36997 . . 0.538624048233 0.44251 . 0.039804 0.25315 T . . . . . . 1.848875 0.21817 18.57 0.93698446559247828 0.23608 0.01791 0.05598 N AEFBI . . . . . . . . . 3.72826922589843E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 -1.31 0.08749 2.441000 0.44522 -0.850000 0.03014 0.319000 0.19345 0.208000 0.24400 0.000000 0.01923 0.319000 0.24947 0.0:0.0:0.389:0.611 5.4142 0.15662 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14841 T C Q R . 9 14841 9 4841 455 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1364A>G p.Q455R c.1364A>G p.Gln455Arg c.1364A>G p.Gln455Arg principal1 Y 2 YES - CAG 2 0 . ./. ./. ./. . . . 0.551 0.09393 T 0.023 0.18885 B 0.019 0.18783 B . . . . . . . . . 0.345 0.11182 N . . . . . . 0.058 0.02964 . . . . . . . . . . . . . . . . . 0.0884992946249 0.08302 . . 0.5434897542 0.44938 . 0.021942 0.17000 T . . . . . . 1.648189 0.18723 17.10 0.85765170161665116 0.16098 0.03180 0.08162 N AEFBI . . . . . . . . . 3.72826922589843E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 -1.31 0.08749 2.441000 0.44522 -0.850000 0.03014 0.319000 0.19345 0.208000 0.24400 0.000000 0.01923 0.319000 0.24947 0.0:0.0:0.389:0.611 5.4142 0.15662 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14841 T G Q P . 9 14841 9 4841 455 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1364A>C p.Q455P c.1364A>C p.Gln455Pro c.1364A>C p.Gln455Pro principal1 Y 2 YES - CAG 2 0 . ./. ./. ./. . . . 0.397 0.15157 T 0.0 0.02946 B 0.0 0.01387 B . . . . . . . . . -1.32 0.00691 N . . . . . . 0.107 0.09207 . . . . . . . . . . . . . . . . . 0.0954503805726 0.09146 . . 0.516685545444 0.41160 . 0.029432 0.21092 T . . . . . . 1.696352 0.19439 17.43 0.87913726681929594 0.17575 0.00491 0.02326 N AEFBI . . . . . . . . . 3.72826922589843E-5 0.03775 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.0704346 0.16620 1.18 -1.31 0.08749 2.441000 0.44522 -0.850000 0.03014 0.319000 0.19345 0.208000 0.24400 0.000000 0.01923 0.319000 0.24947 0.0:0.0:0.389:0.611 5.4142 0.15662 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14842 G A Q X rs1471413402 9 14842 9 4842 455 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1363C>T p.Q455X c.1363C>T p.Gln455* c.1363C>T p.Gln455Ter principal1 Y 2 YES - CAG 1 0 . ./. ./. ./. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.15 0.15328 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5.298878 0.95736 35 0.94842676588724628 0.25635 0.07429 0.13447 N AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.647775 0.41714 1.18 1.18 0.20058 1.044000 0.29939 0.794000 0.31387 0.325000 0.19437 0.168000 0.23907 0.001000 0.05097 0.324000 0.25064 0.0:0.0:1.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14842 G C Q E . 9 14842 9 4842 455 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1363C>G p.Q455E c.1363C>G p.Gln455Glu c.1363C>G p.Gln455Glu principal1 Y 2 YES - CAG 1 0 . ./. ./. ./. . . . 0.971 0.02478 T 0.004 0.12183 B 0.006 0.12133 B . . . . . . . . . 0.69 0.16971 N . . . . . . 0.096 0.07673 . . . . . . . . . . . . . . . . . 0.107399877778 0.10242 . . 0.52107077837 0.41777 . 0.014516 0.12343 T . . . . . . 0.971042 0.09711 12.71 0.92642635041470467 0.22117 0.07050 0.13076 N AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.647775 0.41714 1.18 1.18 0.20058 1.044000 0.29939 0.794000 0.31387 0.325000 0.19437 0.168000 0.23907 0.001000 0.05097 0.324000 0.25064 0.0:0.0:1.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14842 G T Q K . 9 14842 9 4842 455 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1363C>A p.Q455K c.1363C>A p.Gln455Lys c.1363C>A p.Gln455Lys principal1 Y 2 YES - CAG 1 0 . ./. ./. ./. . . . 0.85 0.03507 T 0.01 0.15535 B 0.004 0.10090 B . . . . . . . . . 0.69 0.16971 N . . . . . . 0.105 0.08925 . . . . . . . . . . . . . . . . . 0.0986583533028 0.09354 . . 0.551275312901 0.46038 . 0.020994 0.16426 T . . . . . . 1.188002 0.12409 14.28 0.94700471360350336 0.25352 0.08033 0.14010 N AEFBI . . . . . . . . . 0.00723169892669726 0.11417 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.647775 0.41714 1.18 1.18 0.20058 1.044000 0.29939 0.794000 0.31387 0.325000 0.19437 0.168000 0.23907 0.001000 0.05097 0.324000 0.25064 0.0:0.0:1.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14844 G A P L . 9 14844 9 4844 454 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1361C>T p.P454L c.1361C>T p.Pro454Leu c.1361C>T p.Pro454Leu principal1 Y 2 YES - CCA 2 0 . ./. ./. ./. . . . 0.026 0.55759 D 0.79 0.44599 P 0.36 0.43183 B . . . . . . . . . 1.385 0.34509 L . . . . . . 0.167 0.17691 . . . . . . . . . . . . . . . . . 0.535679682109 0.53219 . . 0.637181758881 0.58163 . 0.091994 0.38912 T . . . . . . 3.096092 0.48500 23.2 0.94695111409608035 0.25343 0.77669 0.38215 D AEFBI . . . . . . . . . 6.73752151327904E-5 0.04366 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 4.921000 0.63096 0.794000 0.31387 0.325000 0.19437 1.000000 0.71638 0.036000 0.15932 0.326000 0.25110 0.0:0.0:1.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14844 G C P R . 9 14844 9 4844 454 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1361C>G p.P454R c.1361C>G p.Pro454Arg c.1361C>G p.Pro454Arg principal1 Y 2 YES - CCA 2 0 . ./. ./. ./. . . . 0.031 0.53788 D 0.883 0.48537 P 0.621 0.51426 P . . . . . . . . . 2.135 0.59519 M . . . . . . 0.185 0.20129 . . . . . . . . . . . . . . . . . 0.344710718752 0.34073 . . 0.632340431213 0.57477 . 0.044151 0.26727 T . . . . . . 3.509598 0.59821 24.3 0.91763694675715712 0.21065 0.82567 0.41776 D AEFBI . . . . . . . . . 6.73752151327904E-5 0.04366 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 4.921000 0.63096 0.794000 0.31387 0.325000 0.19437 1.000000 0.71638 0.036000 0.15932 0.326000 0.25110 0.0:0.0:1.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14844 G T P Q . 9 14844 9 4844 454 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1361C>A p.P454Q c.1361C>A p.Pro454Gln c.1361C>A p.Pro454Gln principal1 Y 2 YES - CCA 2 0 . ./. ./. ./. . . . 0.057 0.46406 T 0.938 0.52538 P 0.694 0.53938 P . . . . . . . . . 1.585 0.39878 L . . . . . . 0.28 0.31702 . . . . . . . . . . . . . . . . . 0.257292322809 0.25322 . . 0.598467588425 0.52688 . 0.03916 0.25092 T . . . . . . 3.082908 0.48164 23.1 0.94876630008942986 0.25703 0.81274 0.40712 D AEFBI . . . . . . . . . 6.73752151327904E-5 0.04366 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.347871 0.05795 0 0.120609 0.24694 1.18 1.18 0.20058 4.921000 0.63096 0.794000 0.31387 0.325000 0.19437 1.000000 0.71638 0.036000 0.15932 0.326000 0.25110 0.0:0.0:1.0:0.0 5.8119 0.17734 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14845 G A P S rs1178313279 9 14845 9 4845 454 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1360C>T p.P454S c.1360C>T p.Pro454Ser c.1360C>T p.Pro454Ser principal1 Y 2 YES - CCA 1 0 . ./. ./. ./. . . . 0.484 0.11760 T 0.518 0.37483 P 0.197 0.36707 B . . . . . . . . . 1.385 0.34509 L . . . . . . 0.097 0.07811 . . . . . . . . . . . . . . . . . 0.193865811164 0.18958 . . 0.589559018612 0.51432 . 0.017791 0.14454 T . . . . . . 1.947682 0.23461 19.31 0.95247228732141653 0.26498 0.37307 0.25732 N AEFBI . . . . . . . . . 3.1043007488529E-5 0.03498 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.223356 0.04673 0 0.120609 0.24694 1.18 0.207 0.14491 0.621000 0.24112 0.794000 0.31387 0.325000 0.19437 1.000000 0.71638 0.053000 0.17203 0.324000 0.25064 0.0:0.3673:0.6327:0.0 5.2461 0.14815 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14845 G C P A . 9 14845 9 4845 454 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1360C>G p.P454A c.1360C>G p.Pro454Ala c.1360C>G p.Pro454Ala principal1 Y 2 YES - CCA 1 0 . ./. ./. ./. . . . 0.614 0.07592 T 0.007 0.14184 B 0.007 0.12992 B . . . . . . . . . 0.75 0.19020 N . . . . . . 0.099 0.08088 . . . . . . . . . . . . . . . . . 0.193865811164 0.18958 . . 0.601549386978 0.53123 . 0.019905 0.15767 T . . . . . . 1.752154 0.20291 17.84 0.88773172962119384 0.18243 0.37298 0.25730 N AEFBI . . . . . . . . . 3.1043007488529E-5 0.03498 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.223356 0.04673 0 0.120609 0.24694 1.18 0.207 0.14491 0.621000 0.24112 0.794000 0.31387 0.325000 0.19437 1.000000 0.71638 0.053000 0.17203 0.324000 0.25064 0.0:0.3673:0.6327:0.0 5.2461 0.14815 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9 14845 G T P T . 9 14845 9 4845 454 WASHC1 ENSG00000181404 ENST00000442898 ENSP00000485627 A8K0Z3 WASH1_HUMAN c.1360C>A p.P454T c.1360C>A p.Pro454Thr c.1360C>A p.Pro454Thr principal1 Y 2 YES - CCA 1 0 . ./. ./. ./. . . . 0.059 0.45961 T 0.682 0.41464 P 0.255 0.39216 B . . . . . . . . . 1.585 0.39878 L . . . . . . 0.096 0.07673 . . . . . . . . . . . . . . . . . 0.159798565429 0.15598 . . 0.611616313457 0.54544 . 0.040794 0.25645 T . . . . . . 2.373245 0.31603 21.7 0.94404834444690955 0.24797 0.36253 0.25491 N AEFBI . . . . . . . . . 3.1043007488529E-5 0.03498 0.294411 0.05044 0 0.221468 0.04790 0 0.277913 0.05378 0 0.223356 0.04673 0 0.120609 0.24694 1.18 0.207 0.14491 0.621000 0.24112 0.794000 0.31387 0.325000 0.19437 1.000000 0.71638 0.053000 0.17203 0.324000 0.25064 0.0:0.3673:0.6327:0.0 5.2461 0.14815 982 0.96602 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .