Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AAAS 0 genome.wustl.edu 37 12 53703390 53703390 + Missense_Mutation SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 53703390 53703390 T C SNP AAAS ENST00000209873 human ensembl 74_37 -1 known missense c.805 p.I269V 0.948 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 13 0 0.00 23 2 8.00 ABCC9 0 genome.wustl.edu 37 12 21981923 21981923 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 21981923 21981923 G A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3638 p.S1213L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 33 0 0.00 26 12 31.58 ABCF2 0 genome.wustl.edu 37 7 150912737 150912737 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 150912737 150912737 C G SNP ABCF2 ENST00000222388 human ensembl 74_37 -1 known missense c.1483 p.E495Q 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 tier1 - - 127 0 0.00 129 23 15.13 ACACB 0 genome.wustl.edu 37 12 109647044 109647044 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 109647044 109647044 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.3135 p.I1045 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 - - 82 0 0.00 69 12 14.81 ACD 0 genome.wustl.edu 37 16 67693165 67693165 + Nonsense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 67693165 67693165 C A SNP ACD ENST00000393919 human ensembl 74_37 -1 known nonsense c.718 p.E240* 1.000 NULL NULL - no_errors ACD HGNC ENSG00000102977 tier1 - - 34 0 0.00 50 9 15.25 ACSF3 0 genome.wustl.edu 37 16 89167110 89167110 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 89167110 89167110 C T SNP ACSF3 ENST00000317447 human ensembl 74_37 +1 known silent c.21 p.L7 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 17 0 0.00 31 4 11.43 ACTN4 0 genome.wustl.edu 37 19 39208683 39208683 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 39208683 39208683 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known silent c.1260 p.Q420 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 63 0 0.00 58 22 27.50 ADAM21P1 0 genome.wustl.edu 37 14 70714259 70714259 + RNA SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 70714259 70714259 A G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ADAM21P1 HGNC ENSG00000235812 41 0 0.00 38 4 9.52 ADAMTS18 0 genome.wustl.edu 37 16 77317946 77317946 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 77317946 77317946 G C SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3573 p.F1191L 1.000 pfam_PLAC,pfscan_PLAC pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 - - 35 0 0.00 31 5 13.89 ADHFE1 0 genome.wustl.edu 37 8 67355081 67355081 + Splice_Site SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 67355081 67355081 T C SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known splice_site c.144+2 e3+2 1.000 - - - no_errors ADHFE1 HGNC ENSG00000147576 22 0 0.00 25 2 7.41 AEBP1 0 genome.wustl.edu 37 7 44147454 44147454 + Frame_Shift_Del DEL A A - TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 44147454 44147454 A - DEL AEBP1 ENST00000223357 human ensembl 74_37 +1 known frame_shift_del c.786 p.R263fs 1.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 38 0 0.00 44 24 35.29 AKAP6 0 genome.wustl.edu 37 14 33292102 33292102 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 33292102 33292102 G T SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.5083 p.D1695Y 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 32 0 0.00 42 3 6.67 ALDH18A1 0 genome.wustl.edu 37 10 97373617 97373617 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 97373617 97373617 C A SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known missense c.1805 p.R602I 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 tier1 - - 53 0 0.00 62 12 16.22 ALDH7A1 0 genome.wustl.edu 37 5 125915756 125915756 + RNA SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 125915756 125915756 T C SNP ALDH7A1 ENST00000433026 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ALDH7A1 HGNC ENSG00000164904 tier1 - - 51 0 0.00 55 14 20.29 ALKBH7 0 genome.wustl.edu 37 19 6374962 6374962 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 6374962 6374962 G C SNP ALKBH7 ENST00000245812 human ensembl 74_37 +1 known missense c.644 p.G215A 0.000 NULL NULL - no_errors ALKBH7 HGNC ENSG00000125652 tier1 - - 76 0 0.00 44 9 16.67 AMBRA1 0 genome.wustl.edu 37 11 46563842 46563842 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 46563842 46563842 C T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.1725 p.L575 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 54 0 0.00 50 24 32.43 ANGPTL6 0 genome.wustl.edu 37 19 10204497 10204497 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 10204497 10204497 C T SNP ANGPTL6 ENST00000253109 human ensembl 74_37 -1 known missense c.823 p.E275K 0.998 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL6 HGNC ENSG00000130812 tier1 - - 57 0 0.00 51 19 27.14 APOB 0 genome.wustl.edu 37 2 21229677 21229677 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 21229677 21229677 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.10063 p.E3355K 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 34 0 0.00 43 3 6.52 AQPEP 0 genome.wustl.edu 37 5 115298659 115298659 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 115298659 115298659 G C SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known silent c.345 p.L115 0.858 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 16 0 0.00 21 3 12.50 ARID3B 0 genome.wustl.edu 37 15 74889137 74889137 + RNA DEL T T - TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 15 74889137 74889137 T - DEL ARID3B ENST00000563567 human ensembl 74_37 +1 putative rna NULL NULL 0.068 - - - no_errors ARID3B HGNC ENSG00000179361 tier1 21 0 0.00 24 2 7.69 ARMC5 0 genome.wustl.edu 37 16 31470831 31470831 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 31470831 31470831 G A SNP ARMC5 ENST00000408912 human ensembl 74_37 +1 known missense c.271 p.E91K 0.073 NULL superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 tier1 - - 59 0 0.00 66 13 16.46 ASPM 0 genome.wustl.edu 37 1 197059154 197059154 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 197059154 197059154 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.9890 p.S3297F 0.010 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 tier1 - - 13 0 0.00 21 5 19.23 ATAD2 0 genome.wustl.edu 37 8 124357292 124357292 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 124357292 124357292 C G SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known missense c.2550 p.K850N 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 25 0 0.00 39 3 7.14 ATAD3B 0 genome.wustl.edu 37 1 1431023 1431023 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 1431023 1431023 G C SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known missense c.1773 p.E591D 0.002 NULL pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 tier1 - - 81 0 0.00 100 7 6.54 ATF7IP 0 genome.wustl.edu 37 12 14589064 14589064 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 14589064 14589064 C G SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.1670 p.S557C 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 tier1 - - 16 0 0.00 9 9 50.00 ATP13A4 0 genome.wustl.edu 37 3 193210921 193210921 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 193210921 193210921 C T SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.410 p.R137K 1.000 pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 tier1 - - 15 0 0.00 33 6 15.38 ATP7B 0 genome.wustl.edu 37 13 52542702 52542702 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 13 52542702 52542702 C G SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.1585 p.E529Q 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 tier1 - - 25 0 0.00 34 5 12.82 BAIAP2-AS1 0 genome.wustl.edu 37 17 79005303 79005303 + RNA SNP T T A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 79005303 79005303 T A SNP BAIAP2-AS1 ENST00000542745 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors BAIAP2-AS1 HGNC ENSG00000226137 tier1 - - 38 0 0.00 15 20 57.14 BBS1 0 genome.wustl.edu 37 11 66299165 66299165 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 66299165 66299165 G T SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known missense c.1758 p.E586D 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 tier1 - - 57 0 0.00 74 19 20.43 BMP1 0 genome.wustl.edu 37 8 22056861 22056861 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 22056861 22056861 C G SNP BMP1 ENST00000397816 human ensembl 74_37 +1 known missense c.2434 p.L812V 0.989 NULL pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 tier1 - - 20 0 0.00 5 3 37.50 BRIP1 0 genome.wustl.edu 37 17 59938866 59938866 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 59938866 59938866 C T SNP BRIP1 ENST00000259008 human ensembl 74_37 -1 known missense c.35 p.G12E 1.000 superfamily_P-loop_NTPase,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 tier1 - - 23 0 0.00 17 17 50.00 BRWD3 0 genome.wustl.edu 37 X 80065086 80065087 + RNA INS - - A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 X 80065086 80065087 - A INS BRWD3 ENST00000478415 human ensembl 74_37 -1 known rna NULL NULL 0.676:0.668 - - - no_errors BRWD3 HGNC ENSG00000165288 tier1 9 0 0.00 8 11 57.89 BSX 0 genome.wustl.edu 37 11 122850084 122850084 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 122850084 122850084 G T SNP BSX ENST00000343035 human ensembl 74_37 -1 known missense c.344 p.T115K 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 32 0 0.00 39 4 9.30 BTBD11 0 genome.wustl.edu 37 12 108051486 108051486 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 108051486 108051486 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known silent c.3306 p.S1102 0.340 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 - - 43 0 0.00 29 5 14.29 C14orf180 0 genome.wustl.edu 37 14 105052817 105052817 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 105052817 105052817 G C SNP C14orf180 ENST00000410013 human ensembl 74_37 +1 known missense c.50 p.R17P 0.000 NULL NULL - no_errors C14orf180 HGNC ENSG00000184601 tier1 - - 127 0 0.00 120 12 9.09 C19orf71 0 genome.wustl.edu 37 19 3543359 3543359 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 3543359 3543359 G A SNP C19orf71 ENST00000329493 human ensembl 74_37 +1 known silent c.210 p.S70 0.000 NULL NULL - no_errors C19orf71 HGNC ENSG00000183397 tier1 - - 16 0 0.00 13 6 31.58 C1orf105 0 genome.wustl.edu 37 1 172437700 172437700 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 172437700 172437700 G C SNP C1orf105 ENST00000367727 human ensembl 74_37 +1 known missense c.518 p.R173T 0.023 NULL NULL - no_errors C1orf105 HGNC ENSG00000180999 tier1 - - 21 0 0.00 34 6 15.00 C20orf194 0 genome.wustl.edu 37 20 3277433 3277433 + RNA SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 20 3277433 3277433 T C SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 23 0 0.00 8 7 46.67 C20orf26 0 genome.wustl.edu 37 20 20269495 20269495 + Silent SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 20 20269495 20269495 C G SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.3039 p.L1013 0.996 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 tier1 - - 49 0 0.00 49 7 12.50 C5AR2 0 genome.wustl.edu 37 19 47844098 47844098 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 47844098 47844098 C T SNP C5AR2 ENST00000257267 human ensembl 74_37 +1 known silent c.42 p.S14 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2 - no_errors C5AR2 HGNC ENSG00000134830 tier1 rs138403580 - 32 0 0.00 26 9 25.71 C6orf89 0 genome.wustl.edu 37 6 36867365 36867365 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 36867365 36867365 C G SNP C6orf89 ENST00000355190 human ensembl 74_37 +1 known missense c.166 p.Q56E 1.000 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 tier1 - - 28 0 0.00 26 10 27.78 C7 0 genome.wustl.edu 37 5 40947882 40947882 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 40947882 40947882 C G SNP C7 ENST00000313164 human ensembl 74_37 +1 known missense c.917 p.S306C 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 tier1 - - 53 0 0.00 87 12 12.00 CA14 0 genome.wustl.edu 37 1 150236222 150236222 + Silent SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 150236222 150236222 T C SNP CA14 ENST00000369111 human ensembl 74_37 +1 known silent c.892 p.L298 0.734 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 tier1 - - 40 0 0.00 45 7 13.46 CABS1 0 genome.wustl.edu 37 4 71201540 71201540 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 4 71201540 71201540 G A SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known missense c.784 p.E262K 0.999 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 tier1 - - 29 0 0.00 43 4 8.51 CACNA1E 0 genome.wustl.edu 37 1 181752870 181752870 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 181752870 181752870 C G SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.5420 p.S1807C 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 83 0 0.00 65 31 32.29 CALM3 0 genome.wustl.edu 37 19 47111561 47111561 + Nonsense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 47111561 47111561 G T SNP CALM3 ENST00000291295 human ensembl 74_37 +1 known nonsense c.142 p.E48* 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors CALM3 HGNC ENSG00000160014 tier1 - - 32 0 0.00 33 6 15.38 CAND2 0 genome.wustl.edu 37 3 12873053 12873053 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 12873053 12873053 G T SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.3465 p.R1155S 0.995 pfam_TATA-bd_TIP120,superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 tier1 - - 37 0 0.00 31 13 29.55 CAP1 0 genome.wustl.edu 37 1 40536502 40536502 + RNA SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 40536502 40536502 C G SNP CAP1 ENST00000494114 human ensembl 74_37 +1 known rna NULL NULL 0.875 - - - no_errors CAP1 HGNC ENSG00000131236 tier1 - - 59 0 0.00 59 29 32.95 CAPZB 0 genome.wustl.edu 37 1 19683172 19683172 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 19683172 19683172 G C SNP CAPZB ENST00000433834 human ensembl 74_37 -1 known missense c.632 p.S211C 1.000 pfam_CapZ_beta pfam_CapZ_beta,prints_CapZ_beta - no_errors CAPZB HGNC ENSG00000077549 tier1 - - 56 0 0.00 87 7 7.45 CATSPER3 0 genome.wustl.edu 37 5 134343646 134343646 + Splice_Site SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 134343646 134343646 G A SNP CATSPER3 ENST00000282611 human ensembl 74_37 +1 known splice_site c.493-1 e4-1 0.999 - - - no_errors CATSPER3 HGNC ENSG00000152705 tier1 - - 49 0 0.00 46 16 25.81 CCDC146 0 genome.wustl.edu 37 7 76891437 76891437 + Splice_Site SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 76891437 76891437 G A SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known splice_site c.987-1 e8-1 1.000 - - - no_errors CCDC146 HGNC ENSG00000135205 tier1 - - 36 0 0.00 35 11 23.91 CCDC27 0 genome.wustl.edu 37 1 3673349 3673349 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 3673349 3673349 G A SNP CCDC27 ENST00000462521 human ensembl 74_37 +1 known missense c.587 p.R196K 0.000 NULL NULL - no_errors CCDC27 HGNC ENSG00000162592 tier1 - - 26 0 0.00 40 12 23.08 CCNYL2 0 genome.wustl.edu 37 10 42907305 42907305 + RNA SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 42907305 42907305 C T SNP CCNYL2 ENST00000483242 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CCNYL2 HGNC ENSG00000182632 tier1 - - 108 0 0.00 72 12 14.29 CD151 0 genome.wustl.edu 37 11 836150 836150 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 836150 836150 C A SNP CD151 ENST00000322008 human ensembl 74_37 +1 known missense c.81 p.F27L 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD151 HGNC ENSG00000177697 tier1 - - 43 0 0.00 27 6 18.18 CDC27 0 genome.wustl.edu 37 17 45234325 45234325 + Nonsense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 45234325 45234325 G A SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known nonsense c.796 p.R266* 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 tier1 - - 43 0 0.00 40 5 11.11 CEACAM6 0 genome.wustl.edu 37 19 42265341 42265341 + Silent SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 42265341 42265341 C G SNP CEACAM6 ENST00000199764 human ensembl 74_37 +1 known silent c.609 p.L203 0.423 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM6 HGNC ENSG00000086548 tier1 - - 161 0 0.00 179 66 26.94 CENPC 0 genome.wustl.edu 37 4 68378268 68378268 + Silent SNP A A C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 4 68378268 68378268 A C SNP CENPC ENST00000273853 human ensembl 74_37 -1 known silent c.1464 p.T488 0.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 tier1 - - 25 0 0.00 25 6 19.35 CERS5 0 genome.wustl.edu 37 12 50524336 50524336 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 50524336 50524336 C T SNP CERS5 ENST00000317551 human ensembl 74_37 -1 known missense c.1171 p.E391K 1.000 NULL pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS5 HGNC ENSG00000139624 tier1 - - 58 0 0.00 51 14 21.54 CFTR 0 genome.wustl.edu 37 7 117227862 117227862 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 117227862 117227862 C G SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.1654 p.Q552E 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 31 0 0.00 18 4 18.18 CHRM4 0 genome.wustl.edu 37 11 46407355 46407355 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 46407355 46407355 C T SNP CHRM4 ENST00000433765 human ensembl 74_37 -1 known silent c.753 p.K251 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 tier1 rs201352810 - 57 0 0.00 66 20 23.26 CHRND 0 genome.wustl.edu 37 2 233394716 233394716 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 233394716 233394716 C A SNP CHRND ENST00000258385 human ensembl 74_37 +1 known missense c.687 p.D229E 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 tier1 - - 64 0 0.00 45 10 18.18 CHST6 0 genome.wustl.edu 37 16 75512762 75512762 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 75512762 75512762 G A SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.965 p.S322L 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 tier1 - - 58 0 0.00 78 13 14.29 CHSY3 0 genome.wustl.edu 37 5 129520357 129520357 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 129520357 129520357 G C SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.1522 p.E508Q 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 tier1 - - 25 0 0.00 45 6 11.76 CLCNKA 0 genome.wustl.edu 37 1 16360424 16360424 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 16360424 16360424 G C SNP CLCNKA ENST00000464764 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CLCNKA HGNC ENSG00000186510 tier1 rs58783141 - 48 0 0.00 52 11 17.46 CLP1 0 genome.wustl.edu 37 11 57428246 57428246 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 57428246 57428246 C T SNP CLP1 ENST00000525602 human ensembl 74_37 +1 known missense c.616 p.R206C 0.960 superfamily_P-loop_NTPase pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors CLP1 HGNC ENSG00000172409 tier1 - - 68 0 0.00 100 14 12.28 CMAHP 0 genome.wustl.edu 37 6 25093789 25093789 + RNA SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 25093789 25093789 C G SNP CMAHP ENST00000377989 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CMAHP HGNC ENSG00000168405 tier1 - - 48 0 0.00 34 15 30.61 CNGB1 0 genome.wustl.edu 37 16 58001173 58001173 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 58001173 58001173 C G SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.18 p.Q6H 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 tier1 - - 68 0 0.00 66 9 12.00 CP 0 genome.wustl.edu 37 3 148896253 148896253 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 148896253 148896253 C T SNP CP ENST00000264613 human ensembl 74_37 -1 known missense c.2827 p.E943K 0.020 pfam_Cu-oxidase,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 tier1 - - 38 0 0.00 71 15 17.44 CREB3L1 0 genome.wustl.edu 37 11 46331554 46331554 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 46331554 46331554 G C SNP CREB3L1 ENST00000288400 human ensembl 74_37 +1 known missense c.531 p.M177I 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 tier1 - - 26 0 0.00 28 13 31.71 CREBRF 0 genome.wustl.edu 37 5 172550174 172550174 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 172550174 172550174 G C SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known missense c.1779 p.Q593H 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 tier1 - - 23 0 0.00 24 6 20.00 CSMD3 0 genome.wustl.edu 37 8 113259322 113259322 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 113259322 113259322 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10149 p.H3383Q 0.992 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 50 0 0.00 63 5 7.35 CTAGE6 0 genome.wustl.edu 37 7 143453407 143453407 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 143453407 143453407 G T SNP CTAGE6 ENST00000470691 human ensembl 74_37 -1 known missense c.1345 p.H449N 0.039 NULL superfamily_tRNA-bd_arm - no_errors CTAGE6 HGNC ENSG00000271321 109 0 0.00 108 8 6.90 CTNND1 0 genome.wustl.edu 37 11 57578949 57578949 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 57578949 57578949 C G SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.2629 p.Q877E 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 35 0 0.00 26 3 10.34 CYP39A1 0 genome.wustl.edu 37 6 46607323 46607323 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 46607323 46607323 G C SNP CYP39A1 ENST00000275016 human ensembl 74_37 -1 known silent c.396 p.L132 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC ENSG00000146233 tier1 - - 43 0 0.00 31 11 26.19 CYP51A1 0 genome.wustl.edu 37 7 91752604 91752604 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 91752604 91752604 C T SNP CYP51A1 ENST00000003100 human ensembl 74_37 -1 known missense c.916 p.E306K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 tier1 - - 47 0 0.00 38 7 15.56 DDX11L10 0 genome.wustl.edu 37 16 63247 63247 + RNA SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 63247 63247 G A SNP DDX11L10 ENST00000513886 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors DDX11L10 HGNC ENSG00000233614 12 0 0.00 18 4 18.18 DKK3 0 genome.wustl.edu 37 11 11985989 11985989 + RNA SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 11985989 11985989 C G SNP DKK3 ENST00000527132 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors DKK3 HGNC ENSG00000050165 tier1 - - 34 0 0.00 40 13 24.53 DNAH1 0 genome.wustl.edu 37 3 52414133 52414133 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 52414133 52414133 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known silent c.7590 p.L2530 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 33 0 0.00 19 12 38.71 DNAH10 0 genome.wustl.edu 37 12 124343712 124343712 + Nonsense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 124343712 124343712 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known nonsense c.6292 p.Q2098* 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 55 0 0.00 44 8 15.09 DNAH17 0 genome.wustl.edu 37 17 76525741 76525741 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 76525741 76525741 C G SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.3320 p.R1107T 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 80 0 0.00 85 27 24.11 DNAJC24 0 genome.wustl.edu 37 11 31392295 31392295 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 31392295 31392295 G C SNP DNAJC24 ENST00000532385 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors DNAJC24 HGNC ENSG00000170946 tier1 - - 19 0 0.00 18 4 18.18 DOCK11 0 genome.wustl.edu 37 X 117758549 117758549 + Silent SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 X 117758549 117758549 A G SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known silent c.3519 p.L1173 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 tier1 - - 29 0 0.00 16 17 51.52 DOCK2 0 genome.wustl.edu 37 5 169097556 169097556 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 169097556 169097556 C G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.179 p.P60R 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 53 0 0.00 32 10 23.81 DPP10 0 genome.wustl.edu 37 2 116599859 116599859 + Missense_Mutation SNP T T G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 116599859 116599859 T G SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.2341 p.F781V 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 33 0 0.00 20 14 41.18 DSEL 0 genome.wustl.edu 37 18 65180716 65180716 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 18 65180716 65180716 G A SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1160 p.S387L 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 82 0 0.00 57 11 16.18 DSPP 0 genome.wustl.edu 37 4 88534007 88534007 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 4 88534007 88534007 G A SNP DSPP ENST00000282478 human ensembl 74_37 +1 known silent c.669 p.G223 0.000 NULL NULL - no_errors DSPP HGNC ENSG00000152591 tier1 - - 46 0 0.00 50 8 13.79 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76634956 76634956 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 76634956 76634956 G C SNP DTX2P1-UPK3BP1-PMS2P11 ENST00000579700 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 tier1 - - 70 0 0.00 51 6 10.53 DYNC1H1 0 genome.wustl.edu 37 14 102449796 102449796 + Silent SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 102449796 102449796 C A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.1311 p.I437 0.679 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 29 0 0.00 33 2 5.71 DYNC2H1 0 genome.wustl.edu 37 11 103152935 103152935 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 103152935 103152935 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.10810 p.V3604I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 32 0 0.00 28 11 28.21 DYRK1B 0 genome.wustl.edu 37 19 40320544 40320544 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 40320544 40320544 C A SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known missense c.496 p.D166Y 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1B HGNC ENSG00000105204 tier1 - - 63 0 0.00 59 12 16.90 ECHDC2 0 genome.wustl.edu 37 1 53387333 53387333 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 53387333 53387333 G C SNP ECHDC2 ENST00000371522 human ensembl 74_37 -1 known missense c.13 p.L5V 0.952 NULL pfam_Crotonase_core_superfam - no_errors ECHDC2 HGNC ENSG00000121310 tier1 - - 17 0 0.00 12 4 25.00 EGFLAM 0 genome.wustl.edu 37 5 38438418 38438418 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 38438418 38438418 C T SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known silent c.2325 p.F775 0.243 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 tier1 - - 51 0 0.00 93 21 18.42 EHMT2 0 genome.wustl.edu 37 6 31847870 31847870 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 31847870 31847870 G C SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known silent c.3795 p.V1265 0.459 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 tier1 - - 114 0 0.00 67 27 28.72 EIF2B1 0 genome.wustl.edu 37 12 124111668 124111668 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 124111668 124111668 C T SNP EIF2B1 ENST00000424014 human ensembl 74_37 -1 known silent c.405 p.L135 0.156 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B1 HGNC ENSG00000111361 tier1 - - 46 0 0.00 50 5 9.09 EIF2B1 0 genome.wustl.edu 37 12 124111678 124111678 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 124111678 124111678 C T SNP EIF2B1 ENST00000424014 human ensembl 74_37 -1 known missense c.395 p.R132K 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B1 HGNC ENSG00000111361 tier1 - - 45 0 0.00 44 4 8.33 ELF5 0 genome.wustl.edu 37 11 34515144 34515144 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 34515144 34515144 G A SNP ELF5 ENST00000312319 human ensembl 74_37 -1 known silent c.267 p.F89 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF5 HGNC ENSG00000135374 tier1 - - 45 0 0.00 17 14 45.16 EMP1 0 genome.wustl.edu 37 12 13364445 13364446 + Frame_Shift_Ins INS - - T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 13364445 13364446 - T INS EMP1 ENST00000256951 human ensembl 74_37 +1 known frame_shift_ins c.1_2 p.M1fs 1.000:1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1 - no_errors EMP1 HGNC ENSG00000134531 tier1 66 0 0.00 26 13 33.33 ENSG00000180458 0 genome.wustl.edu 37 19 38039934 38039934 + RNA SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 38039934 38039934 G A SNP ENSG00000180458 ENST00000316807 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors CTD-3064H18.4 Clone_based_vega_gene ENSG00000180458 tier1 - - 58 0 0.00 41 12 22.64 ENSG00000258856 0 genome.wustl.edu 37 14 58096955 58096955 + RNA SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 58096955 58096955 G A SNP ENSG00000258856 ENST00000600311 human ensembl 74_37 +1 known rna NULL NULL 0.821 - - - no_errors CTD-2325K12.1 Clone_based_vega_gene ENSG00000258856 tier1 - - 71 0 0.00 43 18 29.51 ENSG00000259966 0 genome.wustl.edu 37 16 32619544 32619544 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 32619544 32619544 G C SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 tier1 - - 63 0 0.00 80 15 15.79 ENSG00000269890 0 genome.wustl.edu 37 1 228461367 228461367 + RNA SNP A A T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 228461367 228461367 A T SNP ENSG00000269890 ENST00000602517 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1139B12.2 Clone_based_vega_gene ENSG00000269890 tier1 - - 42 0 0.00 37 13 26.00 ENSG00000272267 0 genome.wustl.edu 37 8 9413446 9413446 + RNA SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 9413446 9413446 G A SNP ENSG00000272267 ENST00000607598 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-375N15.2 Clone_based_vega_gene ENSG00000272267 tier1 - - 70 0 0.00 53 11 17.19 EP300 0 genome.wustl.edu 37 22 41565574 41565574 + Missense_Mutation SNP T T G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 22 41565574 41565574 T G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.4240 p.Y1414D 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 21 0 0.00 14 10 41.67 EP400 0 genome.wustl.edu 37 12 132547087 132547087 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 132547087 132547087 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8283 p.Q2761 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 rs12366766 - 40 0 0.00 41 4 8.89 EP400 0 genome.wustl.edu 37 12 132547093 132547093 + Silent SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 132547093 132547093 A G SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8289 p.Q2763 0.900 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 rs28513925 - 40 0 0.00 41 4 8.89 EPHX1 0 genome.wustl.edu 37 1 226026976 226026976 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 226026976 226026976 C A SNP EPHX1 ENST00000272167 human ensembl 74_37 +1 known missense c.651 p.F217L 1.000 pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 tier1 - - 66 0 0.00 45 22 32.84 EPHX1 0 genome.wustl.edu 37 1 226032974 226032974 + Missense_Mutation SNP T T A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 226032974 226032974 T A SNP EPHX1 ENST00000272167 human ensembl 74_37 +1 known missense c.1294 p.F432I 1.000 pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 tier1 - - 49 0 0.00 60 8 11.76 EPX 0 genome.wustl.edu 37 17 56271143 56271143 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 56271143 56271143 G A SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.415 p.E139K 0.123 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 tier1 - - 40 0 0.00 39 18 31.58 ERVK13-1 0 genome.wustl.edu 37 16 2711935 2711935 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 2711935 2711935 G C SNP ERVK13-1 ENST00000568395 human ensembl 74_37 -1 known rna NULL NULL 0.308 - - - no_errors ERVK13-1 HGNC ENSG00000260565 18 0 0.00 29 4 12.12 EXOC3L1 0 genome.wustl.edu 37 16 67223572 67223572 + Nonsense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 67223572 67223572 G C SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known nonsense c.8 p.S3* 0.720 NULL pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 76 0 0.00 72 5 6.49 EXOC3L4 0 genome.wustl.edu 37 14 103569048 103569048 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 103569048 103569048 G A SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known missense c.988 p.D330N 0.126 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 10 0 0.00 2 2 50.00 FAM135A 0 genome.wustl.edu 37 6 71236164 71236164 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 71236164 71236164 G A SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.3377 p.R1126K 0.218 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 tier1 - - 31 0 0.00 32 6 15.79 FAM83G 0 genome.wustl.edu 37 17 18882138 18882138 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 18882138 18882138 C T SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.841 p.D281N 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 61 0 0.00 22 7 24.14 FAM83G 0 genome.wustl.edu 37 17 18907093 18907093 + Nonsense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 18907093 18907093 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known nonsense c.262 p.Q88* 0.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 65 0 0.00 28 21 42.86 FAM83G 0 genome.wustl.edu 37 17 18907111 18907111 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 18907111 18907111 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.244 p.R82W 0.116 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 85 0 0.00 36 28 43.75 FARP1 0 genome.wustl.edu 37 13 99087937 99087937 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 13 99087937 99087937 G T SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2251 p.D751Y 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 tier1 - - 23 0 0.00 10 16 61.54 FAT3 0 genome.wustl.edu 37 11 92538330 92538330 + Nonsense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 92538330 92538330 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known nonsense c.8908 p.R2970* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 32 0 0.00 33 9 21.43 FGD4 0 genome.wustl.edu 37 12 32754265 32754265 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 32754265 32754265 G C SNP FGD4 ENST00000427716 human ensembl 74_37 +1 known missense c.744 p.E248D 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD4 HGNC ENSG00000139132 tier1 - - 40 0 0.00 18 5 21.74 FHAD1 0 genome.wustl.edu 37 1 15701080 15701080 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 15701080 15701080 C G SNP FHAD1 ENST00000375999 human ensembl 74_37 +1 known missense c.3464 p.S1155C 0.996 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 tier1 - - 31 0 0.00 30 4 11.76 FHDC1 0 genome.wustl.edu 37 4 153896730 153896730 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 4 153896730 153896730 G A SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.2287 p.E763K 0.531 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 42 0 0.00 45 3 6.25 FMO2 0 genome.wustl.edu 37 1 171165874 171165874 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 171165874 171165874 G A SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known silent c.408 p.Q136 0.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 tier1 - - 75 0 0.00 101 13 11.40 FRS3 0 genome.wustl.edu 37 6 41744689 41744689 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 41744689 41744689 C T SNP FRS3 ENST00000259748 human ensembl 74_37 -1 known missense c.37 p.V13I 0.966 pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS3 HGNC ENSG00000137218 tier1 - - 67 0 0.00 64 12 15.79 FTH1 0 genome.wustl.edu 37 11 61734848 61734848 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 61734848 61734848 G A SNP FTH1 ENST00000273550 human ensembl 74_37 -1 known missense c.50 p.S17L 0.997 superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTH1 HGNC ENSG00000167996 tier1 - - 32 0 0.00 18 8 30.77 GABRG2 0 genome.wustl.edu 37 5 161524723 161524723 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 161524723 161524723 G A SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.407 p.R136Q 0.997 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 38 0 0.00 40 3 6.98 GALE 0 genome.wustl.edu 37 1 24122591 24122591 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 24122591 24122591 G C SNP GALE ENST00000469556 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GALE HGNC ENSG00000117308 tier1 - - 35 0 0.00 55 6 9.84 GALNS 0 genome.wustl.edu 37 16 88909193 88909193 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 88909193 88909193 C G SNP GALNS ENST00000268695 human ensembl 74_37 -1 known missense c.165 p.E55D 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors GALNS HGNC ENSG00000141012 tier1 - - 105 0 0.00 133 10 6.99 GALNT11 0 genome.wustl.edu 37 7 151807728 151807728 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 151807728 151807728 C T SNP GALNT11 ENST00000320311 human ensembl 74_37 +1 known missense c.1078 p.R360W 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT11 HGNC ENSG00000178234 tier1 rs147464952 - 20 0 0.00 14 6 28.57 GATA4 0 genome.wustl.edu 37 8 11615867 11615867 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 11615867 11615867 G A SNP GATA4 ENST00000335135 human ensembl 74_37 +1 known silent c.1212 p.K404 1.000 pirsf_TF_GATA_4/5/6 pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA4 HGNC ENSG00000136574 tier1 - - 42 0 0.00 31 14 31.11 GCC2 0 genome.wustl.edu 37 2 109089316 109089316 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 109089316 109089316 G A SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known missense c.2821 p.D941N 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 tier1 - - 36 0 0.00 40 8 16.67 GCH1 0 genome.wustl.edu 37 14 55310767 55310767 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 55310767 55310767 G T SNP GCH1 ENST00000395514 human ensembl 74_37 -1 known silent c.721 p.R241 0.999 tigrfam_GTP_CycHdrlase_I pfam_GTP_CycHdrlase_I_dom,tigrfam_GTP_CycHdrlase_I - no_errors GCH1 HGNC ENSG00000131979 tier1 - - 38 0 0.00 60 6 9.09 GCM2 0 genome.wustl.edu 37 6 10876178 10876178 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 10876178 10876178 C T SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known silent c.528 p.K176 1.000 superfamily_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 tier1 - - 64 0 0.00 45 27 37.50 GFPT1 0 genome.wustl.edu 37 2 69575385 69575385 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 69575385 69575385 G T SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known silent c.927 p.I309 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 tier1 - - 58 0 0.00 57 4 6.56 GHR 0 genome.wustl.edu 37 5 42718722 42718722 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 42718722 42718722 G A SNP GHR ENST00000230882 human ensembl 74_37 +1 known silent c.1113 p.E371 0.877 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 tier1 - - 28 0 0.00 54 5 8.47 GLI4 0 genome.wustl.edu 37 8 144358109 144358109 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 144358109 144358109 C G SNP GLI4 ENST00000340042 human ensembl 74_37 +1 known missense c.266 p.S89C 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI4 HGNC ENSG00000250571 tier1 rs13264624 - 17 0 0.00 28 6 17.65 GLI4 0 genome.wustl.edu 37 8 144358344 144358344 + Silent SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 144358344 144358344 C G SNP GLI4 ENST00000340042 human ensembl 74_37 +1 known silent c.501 p.V167 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI4 HGNC ENSG00000250571 tier1 - - 24 0 0.00 32 6 15.79 GMEB1 0 genome.wustl.edu 37 1 29028959 29028959 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 29028959 29028959 C T SNP GMEB1 ENST00000294409 human ensembl 74_37 +1 known missense c.638 p.T213M 1.000 NULL pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC ENSG00000162419 tier1 rs201750134 - 44 0 0.00 63 17 21.25 GPR75 0 genome.wustl.edu 37 2 54081859 54081859 + Missense_Mutation SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 54081859 54081859 T C SNP GPR75 ENST00000394705 human ensembl 74_37 -1 known missense c.35 p.N12S 0.991 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR75 HGNC ENSG00000119737 tier1 - - 40 0 0.00 33 13 28.26 GREB1 0 genome.wustl.edu 37 2 11765302 11765302 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 11765302 11765302 G C SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.4170 p.W1390C 0.943 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 60 0 0.00 40 15 27.27 GRIA4 0 genome.wustl.edu 37 11 105850508 105850508 + RNA SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 105850508 105850508 G A SNP GRIA4 ENST00000533094 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors GRIA4 HGNC ENSG00000152578 tier1 - - 30 0 0.00 21 9 30.00 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664016 + RNA INS - - G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 72664015 72664016 - G INS GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.912:0.964 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 11 0 0.00 12 3 20.00 GTF3C1 0 genome.wustl.edu 37 16 27475803 27475803 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 27475803 27475803 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.5710 p.G1904R 0.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 - - 76 0 0.00 88 22 20.00 GUCY2D 0 genome.wustl.edu 37 17 7910834 7910834 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 7910834 7910834 C T SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known silent c.1554 p.G518 1.000 smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 tier1 - - 30 0 0.00 11 11 50.00 GVINP1 0 genome.wustl.edu 37 11 6741187 6741187 + RNA SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 6741187 6741187 C G SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GVINP1 HGNC ENSG00000254838 29 0 0.00 25 4 13.79 HAL 0 genome.wustl.edu 37 12 96389545 96389545 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 96389545 96389545 C T SNP HAL ENST00000261208 human ensembl 74_37 -1 known silent c.144 p.V48 1.000 NULL pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 tier1 - - 30 0 0.00 29 5 14.71 HAX1 0 genome.wustl.edu 37 1 154245820 154245820 + Missense_Mutation SNP A A T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 154245820 154245820 A T SNP HAX1 ENST00000483970 human ensembl 74_37 +1 known missense c.62 p.D21V 1.000 pirsf_HS1--assoc_X-1 pirsf_HS1--assoc_X-1 - no_errors HAX1 HGNC ENSG00000143575 tier1 - - 34 0 0.00 34 26 43.33 HEPACAM2 0 genome.wustl.edu 37 7 92844738 92844738 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 92844738 92844738 C T SNP HEPACAM2 ENST00000394468 human ensembl 74_37 -1 known missense c.691 p.D231N 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM2 HGNC ENSG00000188175 tier1 - - 60 0 0.00 57 8 12.31 HIST1H3E 0 genome.wustl.edu 37 6 26225602 26225602 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 26225602 26225602 G C SNP HIST1H3E ENST00000360408 human ensembl 74_37 +1 known missense c.220 p.E74Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC ENSG00000196966 tier1 - - 106 0 0.00 119 21 15.00 HIST2H2BF 0 genome.wustl.edu 37 1 149783597 149783597 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 149783597 149783597 C G SNP HIST2H2BF ENST00000427880 human ensembl 74_37 -1 known missense c.282 p.E94D 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BF HGNC ENSG00000203814 tier1 - - 110 0 0.00 187 18 8.78 HLA-DQA2 0 genome.wustl.edu 37 6 32713702 32713702 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 32713702 32713702 G A SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known missense c.466 p.E156K 0.823 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 tier1 - - 185 0 0.00 228 46 16.79 HMCN1 0 genome.wustl.edu 37 1 186050412 186050412 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 186050412 186050412 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.8673 p.L2891 0.352 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 44 0 0.00 48 6 11.11 HSD11B2 0 genome.wustl.edu 37 16 67470642 67470642 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 67470642 67470642 C T SNP HSD11B2 ENST00000326152 human ensembl 74_37 +1 known silent c.954 p.L318 0.997 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 tier1 - - 42 0 0.00 58 8 12.12 HTR1D 0 genome.wustl.edu 37 1 23520393 23520393 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 23520393 23520393 C T SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known missense c.320 p.G107D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 tier1 - - 54 0 0.00 69 18 20.69 HYDIN 0 genome.wustl.edu 37 16 71022384 71022384 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 71022384 71022384 C G SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.3896 p.R1299T 0.225 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 10 0 0.00 6 3 33.33 ICAM1 0 genome.wustl.edu 37 19 10395227 10395227 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 10395227 10395227 G A SNP ICAM1 ENST00000264832 human ensembl 74_37 +1 known silent c.1074 p.L358 0.059 smart_Ig_sub pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 tier1 - - 36 0 0.00 18 4 18.18 IER2 0 genome.wustl.edu 37 19 13264138 13264138 + Silent SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 13264138 13264138 C G SNP IER2 ENST00000292433 human ensembl 74_37 +1 known silent c.138 p.L46 1.000 pfam_IER pfam_IER - no_errors IER2 HGNC ENSG00000160888 tier1 - - 60 0 0.00 53 13 19.70 IFI16 0 genome.wustl.edu 37 1 159002344 159002344 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 159002344 159002344 G A SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.1192 p.D398N 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 tier1 - - 32 0 0.00 49 12 19.67 IL6ST 0 genome.wustl.edu 37 5 55250687 55250687 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 55250687 55250687 G C SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known missense c.1401 p.I467M 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 tier1 - - 52 0 0.00 41 11 21.15 INO80C 0 genome.wustl.edu 37 18 33048694 33048694 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 18 33048694 33048694 C T SNP INO80C ENST00000441607 human ensembl 74_37 -1 known missense c.568 p.D190N 1.000 pfam_YL1_C pfam_YL1_C - no_errors INO80C HGNC ENSG00000153391 tier1 - - 61 0 0.00 52 5 8.77 INPP5E 0 genome.wustl.edu 37 9 139327500 139327500 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 9 139327500 139327500 C T SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known missense c.1187 p.R396H 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 tier1 - - 42 0 0.00 37 10 21.28 IQGAP3 0 genome.wustl.edu 37 1 156524141 156524141 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 156524141 156524141 G A SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.1334 p.S445L 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 tier1 - - 70 0 0.00 58 16 21.62 IQSEC3 0 genome.wustl.edu 37 12 176445 176445 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 176445 176445 C T SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.397 p.H133Y 0.032 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 tier1 - - 131 0 0.00 123 33 21.15 ISG20 0 genome.wustl.edu 37 15 89182739 89182739 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 15 89182739 89182739 G C SNP ISG20 ENST00000306072 human ensembl 74_37 +1 known missense c.142 p.E48Q 0.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20 HGNC ENSG00000172183 tier1 - - 53 0 0.00 65 15 18.75 ITPR3 0 genome.wustl.edu 37 6 33653581 33653581 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 33653581 33653581 G C SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.5644 p.E1882Q 1.000 pfam_RIH_assoc-dom,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 tier1 - - 11 0 0.00 9 4 30.77 JAKMIP3 0 genome.wustl.edu 37 10 133930673 133930673 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 133930673 133930673 G C SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.228 p.K76N 0.990 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 24 0 0.00 39 5 11.36 KANK1 0 genome.wustl.edu 37 9 710812 710812 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 9 710812 710812 G T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.46 p.G16C 0.896 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 - - 90 0 0.00 73 4 5.19 KCNV1 0 genome.wustl.edu 37 8 110986468 110986468 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 110986468 110986468 G A SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known silent c.150 p.F50 0.982 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv9 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 39 0 0.00 67 19 22.09 KCTD16 0 genome.wustl.edu 37 5 143853449 143853449 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 143853449 143853449 G C SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known silent c.1059 p.L353 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 tier1 - - 19 0 0.00 23 5 17.86 KDM3B 0 genome.wustl.edu 37 5 137761139 137761139 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 137761139 137761139 G C SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.4279 p.E1427Q 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 84 0 0.00 71 26 26.80 KDM3B 0 genome.wustl.edu 37 5 137761147 137761147 + Nonsense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 137761147 137761147 G A SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known nonsense c.4287 p.W1429* 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 88 0 0.00 74 28 27.45 KDM5A 0 genome.wustl.edu 37 12 431719 431719 + Nonsense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 431719 431719 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known nonsense c.2290 p.R764* 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 tier1 - - 21 0 0.00 19 5 20.83 KIAA0430 0 genome.wustl.edu 37 16 15715632 15715632 + Nonsense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 15715632 15715632 G C SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known nonsense c.2597 p.S866* 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 tier1 - - 78 0 0.00 91 21 18.58 KIAA0947 0 genome.wustl.edu 37 5 5464326 5464326 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 5464326 5464326 G C SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.4879 p.E1627Q 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 23 0 0.00 22 11 33.33 KIAA0947 0 genome.wustl.edu 37 5 5465301 5465301 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 5465301 5465301 G C SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.5854 p.E1952Q 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 18 0 0.00 21 7 25.00 KIAA1211 0 genome.wustl.edu 37 4 57176886 57176886 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 4 57176886 57176886 G C SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.340 p.E114Q 0.999 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 85 0 0.00 75 11 12.79 KIAA1244 0 genome.wustl.edu 37 6 138649248 138649248 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 138649248 138649248 G C SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.5092 p.D1698H 1.000 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 8 0 0.00 6 5 45.45 KIF20B 0 genome.wustl.edu 37 10 91492754 91492754 + Nonsense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 91492754 91492754 C G SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known nonsense c.2486 p.S829* 0.131 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 tier1 rs144738424 - 24 0 0.00 16 6 27.27 KLHL28 0 genome.wustl.edu 37 14 45403680 45403680 + Nonsense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 45403680 45403680 G T SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known nonsense c.981 p.C327* 0.980 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 tier1 - - 46 0 0.00 47 4 7.84 KRT18P55 0 genome.wustl.edu 37 17 26603264 26603264 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 26603264 26603264 G C SNP KRT18P55 ENST00000577198 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors KRT18P55 HGNC ENSG00000265480 tier1 - - 14 0 0.00 17 6 26.09 KRTAP5-10 0 genome.wustl.edu 37 11 71276876 71276876 + Silent SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 71276876 71276876 A G SNP KRTAP5-10 ENST00000398531 human ensembl 74_37 +1 known silent c.243 p.K81 0.005 NULL NULL - no_errors KRTAP5-10 HGNC ENSG00000204572 61 0 0.00 69 8 10.39 LAMA2 0 genome.wustl.edu 37 6 129724965 129724965 + Splice_Site SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 129724965 129724965 G C SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known splice_site c.5727-1 e40-1 1.000 - - - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 34 0 0.00 31 5 13.89 LAMB3 0 genome.wustl.edu 37 1 209800282 209800282 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 209800282 209800282 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known silent c.1527 p.L509 0.867 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 tier1 - - 63 0 0.00 50 32 39.02 LAX1 0 genome.wustl.edu 37 1 203743776 203743776 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 203743776 203743776 G A SNP LAX1 ENST00000442561 human ensembl 74_37 +1 known silent c.1164 p.Q388 0.046 NULL NULL - no_errors LAX1 HGNC ENSG00000122188 tier1 - - 36 0 0.00 27 9 25.00 LEPRE1 0 genome.wustl.edu 37 1 43213395 43213395 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 43213395 43213395 G A SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known missense c.1913 p.T638M 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 tier1 - - 62 0 0.00 54 21 28.00 LOC101927718 0 genome.wustl.edu 37 18 28923403 28923403 + RNA SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 18 28923403 28923403 C A SNP LOC101927718 ENST00000578119 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-534N16.1 Clone_based_vega_gene ENSG00000266729 tier1 - - 120 0 0.00 120 13 9.77 LOC101927718 0 genome.wustl.edu 37 18 28923561 28923561 + RNA SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 18 28923561 28923561 C T SNP LOC101927718 ENST00000578119 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-534N16.1 Clone_based_vega_gene ENSG00000266729 tier1 - - 81 0 0.00 70 14 16.67 LOC149134 0 genome.wustl.edu 37 1 246943704 246943704 + RNA SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 246943704 246943704 C T SNP LOC149134 ENST00000421003 human ensembl 74_37 +1 known rna NULL NULL 0.056 - - - no_errors RP11-439E19.3 Clone_based_vega_gene ENSG00000227953 tier1 - - 38 0 0.00 45 15 25.00 LONP2 0 genome.wustl.edu 37 16 48295447 48295447 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 48295447 48295447 C A SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.836 p.T279K 0.453 tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 17 0 0.00 41 6 12.77 LRP10 0 genome.wustl.edu 37 14 23345309 23345309 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 23345309 23345309 G C SNP LRP10 ENST00000359591 human ensembl 74_37 +1 known missense c.1152 p.Q384H 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP10 HGNC ENSG00000197324 tier1 - - 36 0 0.00 30 6 16.67 LRP10 0 genome.wustl.edu 37 14 23345331 23345331 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 23345331 23345331 G A SNP LRP10 ENST00000359591 human ensembl 74_37 +1 known missense c.1174 p.D392N 0.985 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP10 HGNC ENSG00000197324 tier1 - - 48 0 0.00 34 7 17.07 LRP5 0 genome.wustl.edu 37 11 68125233 68125233 + Missense_Mutation SNP A A T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 68125233 68125233 A T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.604 p.I202F 0.999 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 tier1 - - 65 0 0.00 61 14 18.67 LRRC16A 0 genome.wustl.edu 37 6 25495435 25495435 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 25495435 25495435 G T SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.1317 p.E439D 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 31 0 0.00 29 9 23.68 LSM1 0 genome.wustl.edu 37 8 38033964 38033964 + RNA SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 38033964 38033964 C G SNP LSM1 ENST00000522515 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LSM1 HGNC ENSG00000175324 tier1 - - 11 0 0.00 10 6 37.50 MANEA 0 genome.wustl.edu 37 6 96054102 96054102 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 96054102 96054102 G C SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.1210 p.E404Q 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 tier1 - - 26 0 0.00 17 8 32.00 MAP1A 0 genome.wustl.edu 37 15 43817462 43817462 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 15 43817462 43817462 C T SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.3791 p.S1264L 0.001 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 - - 14 0 0.00 7 5 41.67 MAP3K14 0 genome.wustl.edu 37 17 43344565 43344565 + RNA SNP T T A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 43344565 43344565 T A SNP MAP3K14 ENST00000344686 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors MAP3K14 HGNC ENSG00000006062 tier1 - - 83 0 0.00 31 53 63.10 MCM3 0 genome.wustl.edu 37 6 52132674 52132674 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 52132674 52132674 C G SNP MCM3 ENST00000596288 human ensembl 74_37 -1 known missense c.2196 p.Q732H 0.963 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3 - no_errors MCM3 HGNC ENSG00000112118 tier1 - - 156 0 0.00 141 48 25.40 MED7 0 genome.wustl.edu 37 5 156565835 156565835 + Missense_Mutation SNP T T A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 156565835 156565835 T A SNP MED7 ENST00000286317 human ensembl 74_37 -1 known missense c.608 p.H203L 0.993 NULL pfam_Mediatior_Med7 - no_errors MED7 HGNC ENSG00000155868 tier1 - - 75 0 0.00 57 28 32.94 MITF 0 genome.wustl.edu 37 3 69788713 69788713 + RNA SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 69788713 69788713 C T SNP MITF ENST00000461511 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors MITF HGNC ENSG00000187098 tier1 - - 55 0 0.00 31 10 24.39 MMP16 0 genome.wustl.edu 37 8 89198796 89198796 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 89198796 89198796 C T SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.313 p.D105N 1.000 pirsf_Pept_M10A_Metazoans,superfamily_Peptidoglycan-bd-like,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 - - 45 0 0.00 41 9 18.00 MORC4 0 genome.wustl.edu 37 X 106228369 106228369 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 X 106228369 106228369 G T SNP MORC4 ENST00000355610 human ensembl 74_37 -1 known missense c.631 p.P211T 1.000 superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 44 0 0.00 44 4 8.33 MPP5 0 genome.wustl.edu 37 14 67746085 67746085 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 67746085 67746085 G C SNP MPP5 ENST00000261681 human ensembl 74_37 +1 known missense c.198 p.M66I 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP5 HGNC ENSG00000072415 19 0 0.00 20 3 13.04 MROH2B 0 genome.wustl.edu 37 5 41045946 41045946 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 41045946 41045946 C G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.1738 p.E580Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 66 0 0.00 97 30 23.62 MSLN 0 genome.wustl.edu 37 16 812752 812752 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 812752 812752 G T SNP MSLN ENST00000382862 human ensembl 74_37 +1 known silent c.72 p.L24 0.436 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 tier1 - - 108 0 0.00 73 57 43.85 MSN 0 genome.wustl.edu 37 X 64956728 64956730 + In_Frame_Del DEL AGG AGG - TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 X 64956728 64956730 AGG 0 DEL MSN ENST00000360270 human ensembl 74_37 +1 known in_frame_del c.1031_1033 p.E346in_frame_del 1.000:0.998:1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 12 0 0.00 43 7 14.00 MT1H 0 genome.wustl.edu 37 16 56704480 56704480 + Missense_Mutation SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 56704480 56704480 A G SNP MT1H ENST00000332374 human ensembl 74_37 +1 known missense c.91 p.K31E 1.000 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1H HGNC ENSG00000205358 tier1 - - 94 0 0.00 106 10 8.62 MUC16 0 genome.wustl.edu 37 19 9010665 9010665 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 9010665 9010665 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38996 p.S12999F 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 83 0 0.00 47 9 16.07 MUC16 0 genome.wustl.edu 37 19 9089301 9089301 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 9089301 9089301 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.2514 p.L838 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 85 0 0.00 57 22 27.85 MUL1 0 genome.wustl.edu 37 1 20827622 20827622 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 20827622 20827622 G C SNP MUL1 ENST00000264198 human ensembl 74_37 -1 known missense c.620 p.S207C 0.980 pfam_MULAN pfam_MULAN,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 tier1 - - 28 0 0.00 52 5 8.77 MYLK 0 genome.wustl.edu 37 3 123419182 123419182 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 123419182 123419182 C G SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.3133 p.E1045Q 0.340 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 tier1 - - 56 0 0.00 67 16 19.28 MYLK3 0 genome.wustl.edu 37 16 46761262 46761262 + Silent SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 46761262 46761262 C A SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known silent c.1800 p.R600 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK3 HGNC ENSG00000140795 tier1 - - 42 0 0.00 55 14 20.29 MYO18B 0 genome.wustl.edu 37 22 26242238 26242238 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 22 26242238 26242238 C G SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.3540 p.I1180M 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 39 0 0.00 20 16 44.44 NAA11 0 genome.wustl.edu 37 4 80246828 80246828 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 4 80246828 80246828 C T SNP NAA11 ENST00000286794 human ensembl 74_37 -1 known silent c.204 p.P68 0.615 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 tier1 - - 22 0 0.00 21 14 40.00 NAB2 0 genome.wustl.edu 37 12 57486239 57486239 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 57486239 57486239 C T SNP NAB2 ENST00000300131 human ensembl 74_37 +1 known silent c.966 p.I322 1.000 pfam_NAB_co-repressor_dom pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 tier1 - - 40 0 0.00 36 7 16.28 NANS 0 genome.wustl.edu 37 9 100840628 100840628 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 9 100840628 100840628 C T SNP NANS ENST00000210444 human ensembl 74_37 +1 known missense c.602 p.S201L 1.000 pfam_Neu5Ac_N pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III - no_errors NANS HGNC ENSG00000095380 tier1 - - 49 0 0.00 17 24 58.54 NARF 0 genome.wustl.edu 37 17 80442792 80442792 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 80442792 80442792 G A SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.937 p.E313K 0.829 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 tier1 - - 148 0 0.00 184 18 8.91 NARF 0 genome.wustl.edu 37 17 80442801 80442801 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 80442801 80442801 G A SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.946 p.E316K 1.000 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 tier1 - - 156 0 0.00 189 18 8.70 NARF 0 genome.wustl.edu 37 17 80443380 80443380 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 80443380 80443380 G C SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.979 p.D327H 1.000 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 tier1 - - 50 0 0.00 66 4 5.71 NARF 0 genome.wustl.edu 37 17 80443401 80443401 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 80443401 80443401 G C SNP NARF ENST00000309794 human ensembl 74_37 +1 known missense c.1000 p.E334Q 1.000 pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARF HGNC ENSG00000141562 tier1 - - 53 0 0.00 69 4 5.48 NBPF9 0 genome.wustl.edu 37 1 144828816 144828816 + RNA SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 144828816 144828816 C T SNP NBPF9 ENST00000468645 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors NBPF9 HGNC ENSG00000168614 tier1 - - 204 0 0.00 260 58 18.12 NCKAP5 0 genome.wustl.edu 37 2 133541104 133541104 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 133541104 133541104 C G SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3280 p.D1094H 0.218 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 61 0 0.00 63 27 30.00 NELL1 0 genome.wustl.edu 37 11 21594756 21594756 + Missense_Mutation SNP T T G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 21594756 21594756 T G SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.2183 p.L728R 0.412 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 62 0 0.00 49 20 28.99 NF1 0 genome.wustl.edu 37 17 29527461 29527461 + Nonsense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 29527461 29527461 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known nonsense c.910 p.R304* 0.989 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 64 0 0.00 48 26 35.14 NIP7 0 genome.wustl.edu 37 16 69373946 69373946 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 69373946 69373946 G C SNP NIP7 ENST00000254940 human ensembl 74_37 +1 known missense c.94 p.D32H 1.000 pfam_Rbsml_synth_fac_NIP7-like,pirsf_Ribosomal_synth_fac_NIP7 pfam_Rbsml_synth_fac_NIP7-like,superfamily_PUA-like_domain,smart_PUA,pirsf_Ribosomal_synth_fac_NIP7,pfscan_PUA - no_errors NIP7 HGNC ENSG00000132603 tier1 - - 63 0 0.00 63 35 35.71 NIPAL3 0 genome.wustl.edu 37 1 24766717 24766717 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 24766717 24766717 C T SNP NIPAL3 ENST00000374399 human ensembl 74_37 +1 known missense c.149 p.A50V 0.999 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL3 HGNC ENSG00000001461 tier1 - - 30 0 0.00 45 7 13.46 NLK 0 genome.wustl.edu 37 17 26512224 26512224 + Missense_Mutation SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 26512224 26512224 A G SNP NLK ENST00000407008 human ensembl 74_37 +1 known missense c.1169 p.Y390C 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 tier1 - - 29 0 0.00 13 4 23.53 NLRP1 0 genome.wustl.edu 37 17 5433952 5433952 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 5433952 5433952 C T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known silent c.3369 p.V1123 0.358 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 28 0 0.00 30 4 11.76 NLRP5 0 genome.wustl.edu 37 19 56515193 56515193 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 56515193 56515193 C T SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known silent c.174 p.L58 0.002 superfamily_DEATH-like_dom pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 tier1 - - 45 0 0.00 32 7 17.95 NLRX1 0 genome.wustl.edu 37 11 119050456 119050456 + Nonsense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 119050456 119050456 C T SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known nonsense c.1726 p.Q576* 1.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 tier1 - - 94 0 0.00 83 9 9.78 NOXRED1 0 genome.wustl.edu 37 14 77872265 77872265 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 77872265 77872265 G A SNP NOXRED1 ENST00000380835 human ensembl 74_37 -1 known missense c.896 p.S299F 0.000 NULL NULL - no_errors NOXRED1 HGNC ENSG00000165555 tier1 - - 28 0 0.00 23 13 36.11 NPEPPS 0 genome.wustl.edu 37 17 45669307 45669307 + Nonsense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 45669307 45669307 C G SNP NPEPPS ENST00000530514 human ensembl 74_37 +1 known nonsense c.347 p.S116* 0.979 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 tier1 - - 138 0 0.00 147 9 5.77 NPHP4 0 genome.wustl.edu 37 1 5947473 5947473 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 5947473 5947473 G A SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known silent c.2358 p.V786 0.010 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 tier1 - - 106 0 0.00 119 36 23.23 NPIPB15 0 genome.wustl.edu 37 16 74425817 74425817 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 74425817 74425817 G C SNP NPIPB15 ENST00000429990 human ensembl 74_37 +1 known missense c.1171 p.E391Q 0.994 NULL NULL - no_errors NPIPB15 HGNC ENSG00000196436 tier1 - - 153 0 0.00 201 11 5.19 NTN3 0 genome.wustl.edu 37 16 2522730 2522730 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 2522730 2522730 C T SNP NTN3 ENST00000293973 human ensembl 74_37 +1 known silent c.957 p.R319 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN3 HGNC ENSG00000162068 14 0 0.00 14 3 17.65 NTNG2 0 genome.wustl.edu 37 9 135073473 135073473 + Missense_Mutation SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 9 135073473 135073473 T C SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.334 p.W112R 0.999 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 tier1 - - 54 0 0.00 38 31 44.93 NUP188 0 genome.wustl.edu 37 9 131748958 131748958 + Splice_Site SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 9 131748958 131748958 G T SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known splice_site c.2197+1 e21+1 1.000 - - - no_errors NUP188 HGNC ENSG00000095319 76 0 0.00 64 4 5.80 OLFM2 0 genome.wustl.edu 37 19 9971454 9971454 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 9971454 9971454 G A SNP OLFM2 ENST00000264833 human ensembl 74_37 -1 known missense c.80 p.P27L 1.000 pfam_Noelin-1 pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 37 0 0.00 28 6 17.65 OLIG1 0 genome.wustl.edu 37 21 34444476 34444476 + RNA SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 21 34444476 34444476 G A SNP OLIG1 ENST00000498799 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OLIG1 HGNC ENSG00000184221 tier1 - - 75 0 0.00 39 20 33.90 OPTN 0 genome.wustl.edu 37 10 13174166 13174166 + Missense_Mutation SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 13174166 13174166 A G SNP OPTN ENST00000263036 human ensembl 74_37 +1 known missense c.1501 p.K501E 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 tier1 - - 39 0 0.00 46 7 13.21 OR10D3 0 genome.wustl.edu 37 11 124056092 124056092 + Missense_Mutation SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 124056092 124056092 T C SNP OR10D3 ENST00000318666 human ensembl 74_37 +1 known missense c.116 p.L39P 0.022 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10D3 HGNC ENSG00000197309 tier1 - - 120 0 0.00 88 30 25.42 OR11A1 0 genome.wustl.edu 37 6 29394838 29394838 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 29394838 29394838 C T SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known missense c.581 p.R194K 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 tier1 - - 27 0 0.00 31 8 20.51 OR13C9 0 genome.wustl.edu 37 9 107379583 107379583 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 9 107379583 107379583 C T SNP OR13C9 ENST00000259362 human ensembl 74_37 -1 known silent c.903 p.K301 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 tier1 - - 110 0 0.00 79 45 36.29 OR1S1 0 genome.wustl.edu 37 11 57982698 57982698 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 57982698 57982698 C T SNP OR1S1 ENST00000309433 human ensembl 74_37 +1 known missense c.482 p.S161L 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC ENSG00000172774 tier1 - - 66 0 0.00 56 19 25.00 OR2T11 0 genome.wustl.edu 37 1 248790179 248790179 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 248790179 248790179 G C SNP OR2T11 ENST00000330803 human ensembl 74_37 -1 known missense c.251 p.S84C 0.088 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T11 HGNC ENSG00000183130 tier1 - - 58 0 0.00 70 21 22.58 OR4C13 0 genome.wustl.edu 37 11 49974835 49974835 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 49974835 49974835 G C SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.861 p.L287F 0.041 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 tier1 - - 42 0 0.00 41 18 30.51 OR56A1 0 genome.wustl.edu 37 11 6048626 6048626 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 6048626 6048626 G T SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known silent c.309 p.A103 0.498 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 tier1 - - 70 0 0.00 65 19 22.62 OR6P1 0 genome.wustl.edu 37 1 158533238 158533238 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 158533238 158533238 G A SNP OR6P1 ENST00000334632 human ensembl 74_37 -1 known missense c.157 p.P53S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6P1 HGNC ENSG00000186440 tier1 - - 21 0 0.00 30 13 30.23 OR8H2 0 genome.wustl.edu 37 11 55872714 55872714 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 55872714 55872714 C T SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known missense c.196 p.H66Y 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 tier1 - - 81 0 0.00 75 14 15.73 OR8K5 0 genome.wustl.edu 37 11 55927085 55927085 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 55927085 55927085 C A SNP OR8K5 ENST00000313447 human ensembl 74_37 -1 known missense c.709 p.A237S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ENSG00000181752 29 0 0.00 31 3 8.82 OS9 0 genome.wustl.edu 37 12 58112103 58112103 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 58112103 58112103 G C SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.1309 p.E437Q 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 tier1 - - 32 0 0.00 23 8 25.81 OSR2 0 genome.wustl.edu 37 8 99963845 99963845 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 99963845 99963845 C T SNP OSR2 ENST00000435298 human ensembl 74_37 +1 known missense c.773 p.A258V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 tier1 - - 56 0 0.00 35 19 34.55 PARD3 0 genome.wustl.edu 37 10 34626223 34626223 + Nonsense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 34626223 34626223 G C SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known nonsense c.2549 p.S850* 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 24 0 0.00 25 15 37.50 PARP8 0 genome.wustl.edu 37 5 49963923 49963923 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 49963923 49963923 C G SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known missense c.110 p.S37C 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 tier1 - - 229 0 0.00 253 122 32.53 PAX1 0 genome.wustl.edu 37 20 21687102 21687102 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 20 21687102 21687102 C A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.313 p.L105M 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 47 0 0.00 30 26 46.43 PBDC1 0 genome.wustl.edu 37 X 75397537 75397537 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 X 75397537 75397537 G A SNP PBDC1 ENST00000373358 human ensembl 74_37 +1 known missense c.496 p.E166K 0.000 NULL pfam_Put_polysacc_synth - no_errors PBDC1 HGNC ENSG00000102390 tier1 - - 9 0 0.00 14 13 48.15 PCDHAC1 0 genome.wustl.edu 37 5 140307392 140307392 + Silent SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 140307392 140307392 C G SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known silent c.915 p.L305 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 tier1 - - 31 0 0.00 20 11 35.48 PCDHB1 0 genome.wustl.edu 37 5 140431922 140431922 + Silent SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 140431922 140431922 C G SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.867 p.L289 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 tier1 - - 35 0 0.00 30 12 28.57 PDE4C 0 genome.wustl.edu 37 19 18324249 18324249 + Missense_Mutation SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 18324249 18324249 T C SNP PDE4C ENST00000355502 human ensembl 74_37 -1 known missense c.1537 p.T513A 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 tier1 - - 110 0 0.00 92 5 5.15 PDIA4 0 genome.wustl.edu 37 7 148701243 148701243 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 148701243 148701243 G A SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known silent c.1581 p.V527 0.960 pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 tier1 - - 94 0 0.00 94 17 15.32 PER1 0 genome.wustl.edu 37 17 8045267 8045267 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 8045267 8045267 C T SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.3456 p.M1152I 1.000 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 tier1 - - 126 0 0.00 68 32 32.00 PGBD2 0 genome.wustl.edu 37 1 249211564 249211564 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 249211564 249211564 C T SNP PGBD2 ENST00000329291 human ensembl 74_37 +1 known missense c.781 p.P261S 0.994 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 tier1 - - 28 0 0.00 45 9 16.67 PGC 0 genome.wustl.edu 37 6 41710116 41710116 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 41710116 41710116 G C SNP PGC ENST00000373025 human ensembl 74_37 -1 known missense c.559 p.L187V 0.037 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGC HGNC ENSG00000096088 tier1 - - 35 0 0.00 27 19 41.30 PHLPP1 0 genome.wustl.edu 37 18 60646373 60646373 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 18 60646373 60646373 G T SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known silent c.4863 p.R1621 0.997 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 tier1 - - 32 0 0.00 12 11 47.83 PJA2 0 genome.wustl.edu 37 5 108714941 108714941 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 108714941 108714941 C T SNP PJA2 ENST00000361189 human ensembl 74_37 -1 known missense c.247 p.D83N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 tier1 - - 30 0 0.00 18 12 40.00 PKHD1L1 0 genome.wustl.edu 37 8 110374853 110374853 + Missense_Mutation SNP T T A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 110374853 110374853 T A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.44 p.L15Q 0.976 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 81 0 0.00 75 28 27.18 PKHD1L1 0 genome.wustl.edu 37 8 110408258 110408258 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 110408258 110408258 G C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.814 p.V272L 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 53 0 0.00 32 14 30.43 PKP2 0 genome.wustl.edu 37 12 32975511 32975511 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 32975511 32975511 C G SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known missense c.1861 p.E621Q 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 45 0 0.00 48 4 7.69 PLAC9 0 genome.wustl.edu 37 10 81904016 81904016 + Missense_Mutation SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 81904016 81904016 T C SNP PLAC9 ENST00000372263 human ensembl 74_37 +1 known missense c.200 p.V67A 0.477 NULL NULL - no_errors PLAC9 HGNC ENSG00000189129 tier1 - - 64 0 0.00 75 8 9.52 PLEC 0 genome.wustl.edu 37 8 144997022 144997022 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 144997022 144997022 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.7486 p.E2496K 0.079 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 39 0 0.00 56 9 13.85 PLEC 0 genome.wustl.edu 37 8 144995124 144995124 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 144995124 144995124 G T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.9276 p.I3092 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 24 0 0.00 40 5 11.11 POU4F2 0 genome.wustl.edu 37 4 147561864 147561864 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 4 147561864 147561864 C T SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known silent c.1134 p.I378 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 tier1 - - 27 0 0.00 32 6 15.79 PPFIA4 0 genome.wustl.edu 37 1 203013536 203013536 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 203013536 203013536 G A SNP PPFIA4 ENST00000367240 human ensembl 74_37 +1 novel silent c.531 p.E177 1.000 superfamily_Prefoldin pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 tier1 - - 43 0 0.00 32 14 30.43 PPFIBP2 0 genome.wustl.edu 37 11 7661053 7661053 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 7661053 7661053 C A SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known missense c.1327 p.P443T 0.009 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 38 0 0.00 52 4 7.14 PPP4R4 0 genome.wustl.edu 37 14 94722887 94722887 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 94722887 94722887 G C SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known silent c.1956 p.V652 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 tier1 - - 31 0 0.00 28 9 24.32 PRKD1 0 genome.wustl.edu 37 14 30068914 30068914 + Nonsense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 30068914 30068914 G C SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known nonsense c.2015 p.S672* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 tier1 - - 48 0 0.00 23 8 25.81 PRLR 0 genome.wustl.edu 37 5 35068920 35068920 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 35068920 35068920 C G SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.746 p.C249S 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 tier1 - - 26 0 0.00 41 4 8.89 PRMT1 0 genome.wustl.edu 37 19 50185264 50185264 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 50185264 50185264 C T SNP PRMT1 ENST00000454376 human ensembl 74_37 +1 known missense c.290 p.S97L 0.996 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 tier1 - - 71 0 0.00 64 12 15.79 PRRC1 0 genome.wustl.edu 37 5 126866085 126866085 + Missense_Mutation SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 126866085 126866085 A G SNP PRRC1 ENST00000512635 human ensembl 74_37 +1 known missense c.754 p.I252V 1.000 NULL pfam_NTPase/PRRC1 - no_errors PRRC1 HGNC ENSG00000164244 tier1 - - 33 0 0.00 36 10 21.74 PTPRF 0 genome.wustl.edu 37 1 44079217 44079217 + RNA SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 44079217 44079217 C T SNP PTPRF ENST00000477970 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors PTPRF HGNC ENSG00000142949 tier1 - - 63 0 0.00 55 30 35.29 PTPRN2 0 genome.wustl.edu 37 7 157333462 157333462 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 157333462 157333462 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.3063 p.A1021 0.309 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 tier1 - - 73 0 0.00 51 22 30.14 R3HDML 0 genome.wustl.edu 37 20 42965973 42965973 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 20 42965973 42965973 C T SNP R3HDML ENST00000217043 human ensembl 74_37 +1 known missense c.176 p.S59F 1.000 superfamily_CAP_domain pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors R3HDML HGNC ENSG00000101074 tier1 - - 72 0 0.00 75 8 9.64 RAG1 0 genome.wustl.edu 37 11 36596806 36596806 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 36596806 36596806 C G SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.1952 p.S651C 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 tier1 - - 43 0 0.00 38 10 20.83 RASGRF1 0 genome.wustl.edu 37 15 79298644 79298644 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 15 79298644 79298644 C T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.1998 p.L666 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 38 0 0.00 64 4 5.88 RBM14 0 genome.wustl.edu 37 11 66384399 66384399 + Missense_Mutation SNP A A T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 66384399 66384399 A T SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.208 p.M70L 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 tier1 - - 57 0 0.00 36 12 25.00 RCL1 0 genome.wustl.edu 37 9 4827077 4827077 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 9 4827077 4827077 C G SNP RCL1 ENST00000381732 human ensembl 74_37 +1 known missense c.428 p.S143C 0.019 NULL pfam_RNA3'_phos_cyclase_dom,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b - no_errors RCL1 HGNC ENSG00000120158 tier1 - - 101 0 0.00 104 13 11.11 RELN 0 genome.wustl.edu 37 7 103175830 103175830 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 103175830 103175830 G C SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7282 p.R2428G 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 66 0 0.00 51 10 16.39 RETSAT 0 genome.wustl.edu 37 2 85573265 85573265 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 85573265 85573265 G C SNP RETSAT ENST00000475624 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RETSAT HGNC ENSG00000042445 tier1 - - 27 0 0.00 27 10 27.03 REV1 0 genome.wustl.edu 37 2 100017707 100017707 + Silent SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 100017707 100017707 T C SNP REV1 ENST00000258428 human ensembl 74_37 -1 known silent c.3753 p.T1251 0.070 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 tier1 - - 52 0 0.00 33 12 26.67 REV1 0 genome.wustl.edu 37 2 100019123 100019123 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 100019123 100019123 C A SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.3525 p.W1175C 1.000 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 tier1 - - 28 0 0.00 37 5 11.90 RHBG 0 genome.wustl.edu 37 1 156347784 156347784 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 156347784 156347784 G T SNP RHBG ENST00000368246 human ensembl 74_37 +1 known missense c.378 p.M126I 1.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 tier1 - - 50 0 0.00 53 11 17.19 RHOBTB1 0 genome.wustl.edu 37 10 62631842 62631842 + RNA SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 62631842 62631842 G A SNP RHOBTB1 ENST00000490827 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RHOBTB1 HGNC ENSG00000072422 tier1 - - 20 0 0.00 22 9 28.12 RILPL2 0 genome.wustl.edu 37 12 123907666 123907666 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 123907666 123907666 C A SNP RILPL2 ENST00000280571 human ensembl 74_37 -1 known missense c.530 p.R177I 0.003 pfam_RILP pfam_RILP - no_errors RILPL2 HGNC ENSG00000150977 tier1 - - 52 0 0.00 39 5 11.36 RIN2 0 genome.wustl.edu 37 20 19981592 19981592 + RNA SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 20 19981592 19981592 G A SNP RIN2 ENST00000484638 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RIN2 HGNC ENSG00000132669 tier1 - - 27 0 0.00 13 4 23.53 RNFT2 0 genome.wustl.edu 37 12 117204678 117204678 + Silent SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 117204678 117204678 C G SNP RNFT2 ENST00000257575 human ensembl 74_37 +1 known silent c.687 p.L229 0.580 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT2 HGNC ENSG00000135119 tier1 - - 63 0 0.00 57 13 18.57 RP1 0 genome.wustl.edu 37 8 55538983 55538983 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 55538983 55538983 G C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.2541 p.L847F 0.895 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 19 0 0.00 21 12 36.36 RPAP1 0 genome.wustl.edu 37 15 41816047 41816047 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 15 41816047 41816047 C T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known silent c.2358 p.E786 0.003 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 tier1 - - 35 0 0.00 38 22 36.67 RPRD1A 0 genome.wustl.edu 37 18 33606966 33606966 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 18 33606966 33606966 C T SNP RPRD1A ENST00000357384 human ensembl 74_37 -1 known missense c.686 p.R229K 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors RPRD1A HGNC ENSG00000141425 tier1 - - 35 0 0.00 39 7 15.22 RUNDC3B 0 genome.wustl.edu 37 7 87258250 87258250 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 87258250 87258250 C T SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known silent c.111 p.I37 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 23 0 0.00 10 5 33.33 RXRG 0 genome.wustl.edu 37 1 165377516 165377516 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 165377516 165377516 C T SNP RXRG ENST00000359842 human ensembl 74_37 -1 known silent c.1086 p.Q362 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 tier1 - - 61 0 0.00 84 29 25.66 RYR2 0 genome.wustl.edu 37 1 237954760 237954760 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 237954760 237954760 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.13526 p.R4509K 1.000 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 82 0 0.00 72 18 20.00 RYR2 0 genome.wustl.edu 37 1 237955559 237955559 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 237955559 237955559 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.13736 p.R4579H 0.987 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 35 0 0.00 29 5 14.29 SATB2 0 genome.wustl.edu 37 2 200298187 200298187 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 200298187 200298187 C G SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.220 p.E74Q 0.997 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 tier1 - - 21 0 0.00 26 7 21.21 SEC24D 0 genome.wustl.edu 37 4 119649764 119649764 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 4 119649764 119649764 G C SNP SEC24D ENST00000379735 human ensembl 74_37 -1 known silent c.2913 p.L971 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 tier1 - - 32 0 0.00 34 9 20.93 SEMA3E 0 genome.wustl.edu 37 7 82997166 82997166 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 82997166 82997166 C A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.2064 p.E688D 0.995 NULL pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 tier1 - - 87 0 0.00 53 21 28.00 SEMA4C 0 genome.wustl.edu 37 2 97530058 97530058 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 97530058 97530058 C G SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known missense c.1024 p.E342Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 tier1 - - 58 0 0.00 76 5 6.17 SEMA6B 0 genome.wustl.edu 37 19 4548164 4548164 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 4548164 4548164 G T SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known silent c.1476 p.G492 0.783 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 45 0 0.00 36 3 7.69 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 tier1 31 0 0.00 27 3 10.00 SH2B1 0 genome.wustl.edu 37 16 28877776 28877776 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 28877776 28877776 G T SNP SH2B1 ENST00000322610 human ensembl 74_37 +1 known missense c.361 p.G121C 1.000 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 12 0 0.00 23 2 8.00 SHANK2 0 genome.wustl.edu 37 11 70332425 70332425 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 70332425 70332425 C G SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.3976 p.D1326H 0.023 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 tier1 - - 33 0 0.00 32 12 27.27 SHPRH 0 genome.wustl.edu 37 6 146268631 146268631 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 146268631 146268631 C T SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.1210 p.E404K 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 tier1 - - 33 0 0.00 28 10 26.32 SIGLEC1 0 genome.wustl.edu 37 20 3674093 3674093 + Splice_Site SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 20 3674093 3674093 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known splice_site c.3508+1 e13+1 1.000 - - - no_errors SIGLEC1 HGNC ENSG00000088827 tier1 - - 70 0 0.00 51 8 13.56 SIRPB1 0 genome.wustl.edu 37 20 1592043 1592044 + Frame_Shift_Del DEL CA CA - TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 20 1592043 1592044 CA 0 DEL SIRPB1 ENST00000279477 human ensembl 74_37 -1 known frame_shift_del c.393_392 p.V131fs 0.021:0.003 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 60 0 0.00 48 7 12.73 SIRPB1 0 genome.wustl.edu 37 20 1592048 1592048 + Frame_Shift_Del DEL G G - TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 20 1592048 1592048 G 0 DEL SIRPB1 ENST00000279477 human ensembl 74_37 -1 known frame_shift_del c.388 p.H130fs 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 59 0 0.00 51 7 12.07 SLC22A4 0 genome.wustl.edu 37 5 131657980 131657980 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 131657980 131657980 C T SNP SLC22A4 ENST00000200652 human ensembl 74_37 +1 known silent c.756 p.F252 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC ENSG00000197208 tier1 - - 132 0 0.00 126 38 23.03 SLC26A4 0 genome.wustl.edu 37 7 107334901 107334901 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 107334901 107334901 G A SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known silent c.1317 p.G439 0.998 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 tier1 - - 46 0 0.00 44 11 20.00 SLC30A10 0 genome.wustl.edu 37 1 220088979 220088979 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 220088979 220088979 G A SNP SLC30A10 ENST00000366926 human ensembl 74_37 -1 known missense c.1270 p.H424Y 0.217 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 tier1 - - 31 0 0.00 52 18 25.71 SLC38A6 0 genome.wustl.edu 37 14 61519096 61519096 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 61519096 61519096 G T SNP SLC38A6 ENST00000267488 human ensembl 74_37 +1 known missense c.1320 p.L440F 0.986 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A6 HGNC ENSG00000139974 12 0 0.00 11 2 15.38 SLC39A4 0 genome.wustl.edu 37 8 145637923 145637923 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 145637923 145637923 C T SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known silent c.1943 p.*648 0.998 NULL pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 tier1 - - 108 0 0.00 186 14 7.00 SLC4A2 0 genome.wustl.edu 37 7 150768592 150768592 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 150768592 150768592 G A SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known silent c.2091 p.L697 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 tier1 - - 43 0 0.00 39 6 13.33 SLC50A1 0 genome.wustl.edu 37 1 155110171 155110171 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 155110171 155110171 C A SNP SLC50A1 ENST00000368404 human ensembl 74_37 +1 known missense c.417 p.S139R 1.000 pfam_SWEET_sugar_transpr pfam_SWEET_sugar_transpr - no_errors SLC50A1 HGNC ENSG00000169241 tier1 - - 57 0 0.00 75 27 26.47 SLC5A12 0 genome.wustl.edu 37 11 26719966 26719966 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 11 26719966 26719966 G A SNP SLC5A12 ENST00000396005 human ensembl 74_37 -1 known missense c.938 p.S313L 0.986 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 tier1 - - 31 0 0.00 30 11 26.83 SLC9A4 0 genome.wustl.edu 37 2 103120146 103120146 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 103120146 103120146 C T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known silent c.960 p.L320 0.999 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 31 0 0.00 64 4 5.88 SLC9C1 0 genome.wustl.edu 37 3 111997672 111997672 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 111997672 111997672 C T SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.222 p.M74I 0.560 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 27 0 0.00 48 4 7.69 SMAD9 0 genome.wustl.edu 37 13 37422854 37422854 + Nonsense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 13 37422854 37422854 G A SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known nonsense c.1363 p.Q455* 1.000 superfamily_SMAD_FHA_domain,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD9 HGNC ENSG00000120693 tier1 - - 29 0 0.00 20 10 33.33 SNAP91 0 genome.wustl.edu 37 6 84371233 84371233 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 84371233 84371233 C G SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known missense c.440 p.R147T 1.000 pfam_ANTH_dom,superfamily_ENTH_VHS pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 tier1 - - 36 0 0.00 22 7 24.14 SNORA72 0 genome.wustl.edu 37 8 99054836 99054837 + RNA INS - - AAAA TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 99054836 99054837 - AAAA INS SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.049 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 tier1 23 0 0.00 25 8 24.24 SNRPD2 0 genome.wustl.edu 37 19 46190949 46190949 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 46190949 46190949 C T SNP SNRPD2 ENST00000342669 human ensembl 74_37 -1 known missense c.219 p.M73I 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC ENSG00000125743 tier1 - - 96 0 0.00 79 23 22.55 SOS2 0 genome.wustl.edu 37 14 50649280 50649280 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 50649280 50649280 C T SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known silent c.759 p.L253 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 12 0 0.00 23 4 14.81 SOX13 0 genome.wustl.edu 37 1 204086794 204086794 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 204086794 204086794 C T SNP SOX13 ENST00000367204 human ensembl 74_37 +1 known missense c.734 p.S245F 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 tier1 - - 33 0 0.00 46 13 22.03 SOX14 0 genome.wustl.edu 37 3 137484324 137484324 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 137484324 137484324 C T SNP SOX14 ENST00000306087 human ensembl 74_37 +1 known missense c.698 p.S233L 1.000 NULL pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX14 HGNC ENSG00000168875 49 0 0.00 52 5 8.77 SPAG6 0 genome.wustl.edu 37 10 22690153 22690153 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 22690153 22690153 C G SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known missense c.1489 p.L497V 1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 35 0 0.00 31 4 11.43 SPOCK3 0 genome.wustl.edu 37 4 167656000 167656000 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 4 167656000 167656000 G C SNP SPOCK3 ENST00000507137 human ensembl 74_37 -1 known rna NULL NULL 0.892 - - - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 45 0 0.00 40 6 13.04 SPPL3 0 genome.wustl.edu 37 12 121202843 121202843 + Missense_Mutation SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 12 121202843 121202843 A G SNP SPPL3 ENST00000353487 human ensembl 74_37 -1 known missense c.1114 p.F372L 0.998 NULL pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors SPPL3 HGNC ENSG00000157837 14 0 0.00 14 4 22.22 STC1 0 genome.wustl.edu 37 8 23702448 23702448 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 23702448 23702448 G C SNP STC1 ENST00000290271 human ensembl 74_37 -1 known silent c.579 p.L193 1.000 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC1 HGNC ENSG00000159167 tier1 - - 46 0 0.00 35 21 37.50 SYNE2 0 genome.wustl.edu 37 14 64612848 64612848 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 64612848 64612848 G C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.15546 p.L5182F 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 35 0 0.00 28 10 26.32 SYNGAP1 0 genome.wustl.edu 37 6 33408515 33408515 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 33408515 33408515 G A SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known silent c.1686 p.P562 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 tier1 - - 44 0 0.00 47 11 18.97 TACR1 0 genome.wustl.edu 37 2 75425863 75425863 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 75425863 75425863 C T SNP TACR1 ENST00000305249 human ensembl 74_37 -1 known silent c.198 p.V66 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 tier1 - - 50 0 0.00 56 24 30.00 TAF1B 0 genome.wustl.edu 37 2 10008430 10008430 + Nonsense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 10008430 10008430 C G SNP TAF1B ENST00000263663 human ensembl 74_37 +1 known nonsense c.425 p.S142* 0.457 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 tier1 - - 27 0 0.00 24 4 14.29 TBCD 0 genome.wustl.edu 37 17 80879433 80879433 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 80879433 80879433 C T SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.2158 p.H720Y 0.141 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 tier1 - - 57 0 0.00 77 12 13.48 TECR 0 genome.wustl.edu 37 19 14675792 14675792 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 14675792 14675792 C T SNP TECR ENST00000436007 human ensembl 74_37 +1 known silent c.639 p.L213 0.357 pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECR HGNC ENSG00000099797 tier1 - - 66 0 0.00 37 11 22.92 TINF2 0 genome.wustl.edu 37 14 24709275 24709276 + Frame_Shift_Ins INS - - TT TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 24709275 24709276 - TT INS TINF2 ENST00000267415 human ensembl 74_37 -1 known frame_shift_ins c.1216_1215 p.G405fs 0.902:0.846 NULL NULL - no_errors TINF2 HGNC ENSG00000092330 tier1 55 0 0.00 53 15 22.06 TLN1 0 genome.wustl.edu 37 9 35706804 35706804 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 9 35706804 35706804 G C SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known silent c.5049 p.V1683 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 23 0 0.00 16 4 20.00 TMCO1 0 genome.wustl.edu 37 1 165737460 165737460 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 165737460 165737460 C T SNP TMCO1 ENST00000367881 human ensembl 74_37 -1 known silent c.270 p.L90 1.000 pfam_DUF106_TM pfam_DUF106_TM - no_errors TMCO1 HGNC ENSG00000143183 tier1 - - 81 0 0.00 91 25 21.55 TMEM61 0 genome.wustl.edu 37 1 55457722 55457722 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 55457722 55457722 G A SNP TMEM61 ENST00000371268 human ensembl 74_37 +1 known silent c.579 p.P193 0.000 NULL NULL - no_errors TMEM61 HGNC ENSG00000143001 tier1 rs149361095 - 22 0 0.00 20 12 37.50 TMX3 0 genome.wustl.edu 37 18 66381131 66381133 + In_Frame_Del DEL ACA ACA - TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 18 66381131 66381133 ACA - DEL TMX3 ENST00000299608 human ensembl 74_37 -1 known in_frame_del c.53_51 p.V18in_frame_del 0.860:0.725:0.720 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 tier1 44 0 0.00 12 16 57.14 TNPO1 0 genome.wustl.edu 37 5 72161504 72161504 + Missense_Mutation SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 72161504 72161504 A G SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.544 p.I182V 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 tier1 rs113424229 - 32 0 0.00 34 11 24.44 TNXB 0 genome.wustl.edu 37 6 32023938 32023938 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 32023938 32023938 C G SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.8157 p.E2719D 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 42 0 0.00 26 11 28.95 TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 62 0 0.00 26 24 48.00 TPM4 0 genome.wustl.edu 37 19 16178531 16178531 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 16178531 16178531 G A SNP TPM4 ENST00000344824 human ensembl 74_37 +1 known missense c.97 p.E33K 0.996 NULL pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM4 HGNC ENSG00000167460 tier1 - - 41 0 0.00 53 7 11.67 TRABD2A 0 genome.wustl.edu 37 2 85133906 85133906 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 85133906 85133906 G C SNP TRABD2A ENST00000474298 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors TRABD2A HGNC ENSG00000186854 tier1 - - 34 0 0.00 25 6 19.35 TRIM10 0 genome.wustl.edu 37 6 30128405 30128405 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 30128405 30128405 G A SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known silent c.231 p.N77 0.077 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC ENSG00000204613 tier1 - - 69 0 0.00 89 9 9.18 TRRAP 0 genome.wustl.edu 37 7 98601877 98601877 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 98601877 98601877 G C SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.10332 p.W3444C 1.000 superfamily_Kinase-like_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 31 0 0.00 35 12 25.53 TRRAP 0 genome.wustl.edu 37 7 98601974 98601974 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 98601974 98601974 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.10429 p.E3477K 1.000 superfamily_Kinase-like_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 38 0 0.00 27 12 30.77 TSC1 0 genome.wustl.edu 37 9 135787825 135787825 + Missense_Mutation SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 9 135787825 135787825 G T SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.757 p.H253N 1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 tier1 - - 62 0 0.00 19 24 55.81 TSHZ2 0 genome.wustl.edu 37 20 51872037 51872037 + Nonsense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 20 51872037 51872037 C A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known nonsense c.2040 p.C680* 0.018 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 26 0 0.00 36 2 5.26 TTC21A 0 genome.wustl.edu 37 3 39159627 39159627 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 39159627 39159627 G A SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.784 p.E262K 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 34 0 0.00 23 3 11.54 TTN-AS1 0 genome.wustl.edu 37 2 179559307 179559307 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 179559307 179559307 G C SNP TTN-AS1 ENST00000589487 human ensembl 74_37 +1 known rna NULL NULL 0.905 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 44 0 0.00 23 10 30.30 TUBA3E 0 genome.wustl.edu 37 2 130949566 130949566 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 130949566 130949566 G C SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known silent c.1191 p.L397 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 tier1 - - 47 0 0.00 46 15 24.59 UBA6-AS1 0 genome.wustl.edu 37 4 68928855 68928855 + RNA SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 4 68928855 68928855 G C SNP UBA6-AS1 ENST00000499180 human ensembl 74_37 +1 known rna NULL NULL 0.897 - - - no_errors UBA6-AS1 HGNC ENSG00000248049 tier1 - - 35 0 0.00 33 17 34.00 UBE2D2 0 genome.wustl.edu 37 5 138979986 138979986 + Silent SNP A A T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 5 138979986 138979986 A T SNP UBE2D2 ENST00000398733 human ensembl 74_37 +1 known silent c.54 p.P18 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2D2 HGNC ENSG00000131508 tier1 - - 38 0 0.00 25 8 24.24 UBE2F 0 genome.wustl.edu 37 2 238949975 238949975 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 238949975 238949975 G C SNP UBE2F ENST00000272930 human ensembl 74_37 +1 known missense c.554 p.R185T 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2F HGNC ENSG00000184182 tier1 - - 81 0 0.00 65 10 13.33 UBR4 0 genome.wustl.edu 37 1 19510631 19510631 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 19510631 19510631 G T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.1977 p.T659 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 22 0 0.00 26 6 18.75 UMOD 0 genome.wustl.edu 37 16 20362149 20362149 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 20362149 20362149 G C SNP UMOD ENST00000396138 human ensembl 74_37 -1 putative missense c.58 p.Q20E 0.001 NULL pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 21 0 0.00 34 3 8.11 UNKL 0 genome.wustl.edu 37 16 1463960 1463960 + Nonsense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 16 1463960 1463960 G C SNP UNKL ENST00000382757 human ensembl 74_37 -1 known nonsense c.128 p.S43* 0.998 NULL NULL - no_errors UNKL HGNC ENSG00000059145 tier1 - - 39 0 0.00 32 23 41.82 USH2A 0 genome.wustl.edu 37 1 215848443 215848443 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 215848443 215848443 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.12810 p.V4270 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 37 0 0.00 41 16 28.07 USH2A 0 genome.wustl.edu 37 1 216420404 216420404 + Missense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 216420404 216420404 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.2332 p.D778N 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 17 0 0.00 40 6 13.04 UTP14C 0 genome.wustl.edu 37 13 52604065 52604065 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 13 52604065 52604065 C T SNP UTP14C ENST00000521776 human ensembl 74_37 +1 known silent c.1125 p.F375 0.806 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC ENSG00000253797 tier1 - - 22 0 0.00 18 8 30.77 VENTX 0 genome.wustl.edu 37 10 135053603 135053603 + Silent SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 135053603 135053603 C T SNP VENTX ENST00000325980 human ensembl 74_37 +1 known silent c.570 p.S190 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VENTX HGNC ENSG00000151650 tier1 - - 80 0 0.00 46 33 41.77 VGLL4 0 genome.wustl.edu 37 3 11600101 11600101 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 11600101 11600101 G A SNP VGLL4 ENST00000430365 human ensembl 74_37 -1 known missense c.820 p.R274C 0.494 NULL smart_TDU_repeat - no_errors VGLL4 HGNC ENSG00000144560 tier1 - - 99 0 0.00 89 15 14.29 VN1R1 0 genome.wustl.edu 37 19 57967238 57967238 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 57967238 57967238 C A SNP VN1R1 ENST00000321039 human ensembl 74_37 -1 known missense c.617 p.G206V 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 tier1 - - 43 0 0.00 36 18 33.33 VPS13B 0 genome.wustl.edu 37 8 100791077 100791077 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 8 100791077 100791077 G C SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.7672 p.E2558Q 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 55 0 0.00 55 13 19.12 VPS13C 0 genome.wustl.edu 37 15 62209602 62209602 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 15 62209602 62209602 G A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.7993 p.H2665Y 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 29 0 0.00 30 16 34.78 WBSCR17 0 genome.wustl.edu 37 7 71177154 71177154 + RNA SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 7 71177154 71177154 A G SNP WBSCR17 ENST00000467723 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 21 0 0.00 20 9 31.03 WDR63 0 genome.wustl.edu 37 1 85555813 85555813 + Missense_Mutation SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 85555813 85555813 A G SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.755 p.N252S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 tier1 - - 27 0 0.00 17 3 15.00 WDR7 0 genome.wustl.edu 37 18 54363617 54363617 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 18 54363617 54363617 C G SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.1502 p.S501C 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 tier1 - - 65 0 0.00 41 42 50.60 WDR87 0 genome.wustl.edu 37 19 38380747 38380747 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 38380747 38380747 G A SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known silent c.3564 p.L1188 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 83 0 0.00 77 18 18.95 XKR3 0 genome.wustl.edu 37 22 17288835 17288835 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 22 17288835 17288835 G T SNP XKR3 ENST00000331428 human ensembl 74_37 -1 known silent c.129 p.L43 0.682 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR3 HGNC ENSG00000172967 tier1 - - 34 0 0.00 13 6 31.58 XRCC6 0 genome.wustl.edu 37 22 42033762 42033762 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 22 42033762 42033762 G A SNP XRCC6 ENST00000359308 human ensembl 74_37 +1 known missense c.740 p.R247H 0.999 pirsf_Ku70,pfam_Ku_N,tigrfam_Ku70 pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 tier1 - - 18 0 0.00 10 7 41.18 YME1L1 0 genome.wustl.edu 37 10 27434388 27434388 + Silent SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 27434388 27434388 G C SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known silent c.471 p.V157 0.795 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 tier1 - - 26 0 0.00 21 4 16.00 ZBTB14 0 genome.wustl.edu 37 18 5291265 5291265 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 18 5291265 5291265 G A SNP ZBTB14 ENST00000357006 human ensembl 74_37 -1 known silent c.942 p.F314 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB14 HGNC ENSG00000198081 tier1 - - 102 0 0.00 92 14 13.21 ZBTB38 0 genome.wustl.edu 37 3 141162094 141162094 + Silent SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 3 141162094 141162094 C G SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known silent c.867 p.S289 0.018 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 tier1 - - 27 0 0.00 29 14 32.56 ZBTB48 0 genome.wustl.edu 37 1 6642271 6642271 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 6642271 6642271 G A SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known missense c.844 p.E282K 0.991 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 tier1 - - 45 0 0.00 55 16 22.54 ZEB1 0 genome.wustl.edu 37 10 31809970 31809970 + Silent SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 10 31809970 31809970 T C SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known silent c.1710 p.P570 0.789 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 tier1 - - 33 0 0.00 31 5 13.89 ZFYVE1 0 genome.wustl.edu 37 14 73460063 73460063 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 14 73460063 73460063 G A SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known missense c.991 p.H331Y 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 tier1 - - 25 0 0.00 38 5 11.63 ZMYM6 0 genome.wustl.edu 37 1 35452974 35452974 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 35452974 35452974 C G SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.3709 p.E1237Q 0.001 superfamily_RNaseH-like_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 28 0 0.00 30 4 11.76 ZNF101 0 genome.wustl.edu 37 19 19790859 19790859 + Missense_Mutation SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 19790859 19790859 G A SNP ZNF101 ENST00000318110 human ensembl 74_37 +1 known missense c.1061 p.R354Q 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF101 HGNC ENSG00000181896 tier1 - - 33 0 0.00 35 7 16.67 ZNF274 0 genome.wustl.edu 37 19 58698339 58698339 + Silent SNP G G T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 58698339 58698339 G T SNP ZNF274 ENST00000326804 human ensembl 74_37 +1 known silent c.186 p.V62 0.998 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF274 HGNC ENSG00000171606 tier1 - - 27 0 0.00 20 3 13.04 ZNF292 0 genome.wustl.edu 37 6 87966128 87966128 + Silent SNP T T A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 87966128 87966128 T A SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known silent c.2781 p.T927 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 - - 16 0 0.00 19 6 24.00 ZNF292 0 genome.wustl.edu 37 6 87971218 87971218 + Missense_Mutation SNP A A G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 6 87971218 87971218 A G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.7871 p.H2624R 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 - - 16 0 0.00 19 9 32.14 ZNF415 0 genome.wustl.edu 37 19 53625823 53625823 + RNA SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 53625823 53625823 C T SNP ZNF415 ENST00000594286 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ZNF415 HGNC ENSG00000170954 tier1 - - 34 0 0.00 34 6 15.00 ZNF540 0 genome.wustl.edu 37 19 38104049 38104049 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 38104049 38104049 C G SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known missense c.1868 p.T623S 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 tier1 - - 39 0 0.00 32 13 28.89 ZNF672 0 genome.wustl.edu 37 1 249141564 249141564 + Nonsense_Mutation SNP C C T TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 1 249141564 249141564 C T SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known nonsense c.91 p.R31* 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 tier1 - - 50 0 0.00 62 8 11.43 ZNF804A 0 genome.wustl.edu 37 2 185800688 185800688 + Missense_Mutation SNP A A C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 2 185800688 185800688 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.565 p.S189R 0.950 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 25 0 0.00 19 5 20.83 ZNF841 0 genome.wustl.edu 37 19 52568449 52568449 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 52568449 52568449 G C SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known missense c.2686 p.Q896E 0.223 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 tier1 - - 76 0 0.00 63 20 24.10 ZNF850 0 genome.wustl.edu 37 19 37241489 37241489 + Missense_Mutation SNP G G C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 37241489 37241489 G C SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known missense c.453 p.F151L 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF850 HGNC ENSG00000267041 tier1 - - 161 0 0.00 131 39 22.94 ZNF880 0 genome.wustl.edu 37 19 52877592 52877592 + Silent SNP G G A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 52877592 52877592 G A SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known silent c.180 p.E60 0.026 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 tier1 - - 47 0 0.00 37 10 21.28 ZSCAN5B 0 genome.wustl.edu 37 19 56703331 56703331 + Missense_Mutation SNP C C G TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d2635231-8fb7-4495-bbf6-a63d2189c046 0561ebf7-7dbb-470c-a60f-58993a9b8db8 19 56703331 56703331 C G SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known missense c.476 p.R159T 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 tier1 - - 67 0 0.00 67 16 19.28