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 AARS2 0 genome.wustl.edu 37 6 44274734 44274734 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 44274734 44274734 G T SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.1075 p.R359S 1.000 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 56 0 0.00 29 2 6.45 AATK 0 genome.wustl.edu 37 17 79094874 79094874 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 79094874 79094874 C T SNP AATK ENST00000326724 human ensembl 74_37 -1 known silent c.2862 p.A954 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 35 0 0.00 32 2 5.88 ACACB 0 genome.wustl.edu 37 12 109703053 109703053 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 109703053 109703053 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.7081 p.R2361C 1.000 NULL 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 - - 48 0 0.00 44 9 16.98 ACSM3 0 genome.wustl.edu 37 16 20808257 20808257 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 20808257 20808257 G T SNP ACSM3 ENST00000289416 human ensembl 74_37 +1 known missense c.1724 p.R575I 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 tier1 - - 68 0 0.00 47 4 7.84 ACTN2 0 genome.wustl.edu 37 1 236911004 236911004 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 236911004 236911004 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1444 p.R482W 0.996 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 ACTN2 HGNC ENSG00000077522 tier1 rs199604590 - 45 0 0.00 17 27 61.36 ACY3 0 genome.wustl.edu 37 11 67410228 67410228 + Silent SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 67410228 67410228 G T SNP ACY3 ENST00000255082 human ensembl 74_37 -1 known silent c.927 p.P309 0.000 pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ACY3 HGNC ENSG00000132744 tier1 - - 61 0 0.00 55 4 6.78 ADAMTS2 0 genome.wustl.edu 37 5 178581177 178581177 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 178581177 178581177 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.1255 p.D419N 0.998 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 21 0 0.00 2 16 88.89 AEBP1 0 genome.wustl.edu 37 7 44149310 44149310 + RNA SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 44149310 44149310 G A SNP AEBP1 ENST00000454218 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 49 0 0.00 66 18 21.43 AKAP3 0 genome.wustl.edu 37 12 4737076 4737076 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 4737076 4737076 G A SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.992 p.S331L 0.992 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 tier1 - - 37 0 0.00 41 10 19.61 ALDOC 0 genome.wustl.edu 37 17 26901110 26901110 + Silent SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 26901110 26901110 A G SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known silent c.774 p.R258 0.999 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 tier1 - - 36 0 0.00 32 14 30.43 ALX1 0 genome.wustl.edu 37 12 85674198 85674198 + Missense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 85674198 85674198 C A SNP ALX1 ENST00000316824 human ensembl 74_37 +1 known missense c.159 p.F53L 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX1 HGNC ENSG00000180318 35 0 0.00 31 2 6.06 ANK1 0 genome.wustl.edu 37 8 41554052 41554052 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 8 41554052 41554052 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2789 p.R930H 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 110 0 0.00 44 14 23.33 ARHGAP25 0 genome.wustl.edu 37 2 69046254 69046254 + Splice_Site SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 69046254 69046254 G T SNP ARHGAP25 ENST00000409202 human ensembl 74_37 +1 known splice_site c.1004-1 e9-1 1.000 - - - no_errors ARHGAP25 HGNC ENSG00000163219 tier1 - - 66 0 0.00 59 4 6.35 ARHGEF4 0 genome.wustl.edu 37 2 131674056 131674056 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 131674056 131674056 C T SNP ARHGEF4 ENST00000409359 human ensembl 74_37 +1 putative missense c.1547 p.P516L 0.000 NULL NULL - no_errors ARHGEF4 HGNC ENSG00000136002 tier1 - - 17 0 0.00 13 7 35.00 ASIC2 0 genome.wustl.edu 37 17 31439044 31439044 + Silent SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 31439044 31439044 G T SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known silent c.750 p.G250 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 tier1 - - 52 0 0.00 75 4 5.06 ATIC 0 genome.wustl.edu 37 2 216214359 216214359 + Frame_Shift_Del DEL T T - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 216214359 216214359 T - DEL ATIC ENST00000236959 human ensembl 74_37 +1 known frame_shift_del c.1760 p.R588fs 0.999 superfamily_Cytidine_deaminase-like,pirsf_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 tier1 48 0 0.00 35 2 5.41 ATP2B2 0 genome.wustl.edu 37 3 10400462 10400462 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 10400462 10400462 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.2049 p.P683 0.014 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 70 0 0.00 44 12 21.43 ATP6V0A1 0 genome.wustl.edu 37 17 40646421 40646421 + Missense_Mutation SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 40646421 40646421 T C SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known missense c.1265 p.L422S 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 tier1 - - 68 0 0.00 70 19 21.35 AWAT1 0 genome.wustl.edu 37 X 69459688 69459688 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c X 69459688 69459688 C T SNP AWAT1 ENST00000374521 human ensembl 74_37 +1 known missense c.736 p.R246C 0.001 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 tier1 - - 25 0 0.00 11 21 65.62 BAI2 0 genome.wustl.edu 37 1 32207538 32207538 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 32207538 32207538 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.1448 p.A483V 0.116 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 30 0 0.00 28 4 12.12 BAIAP3 0 genome.wustl.edu 37 16 1394468 1394469 + Splice_Site DEL AG AG - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 1394468 1394469 AG - DEL BAIAP3 ENST00000324385 human ensembl 74_37 +1 known splice_site_del c.1708-2_1708-1 e18-1 1.000:1.000 - - - no_errors BAIAP3 HGNC ENSG00000007516 tier1 20 0 0.00 6 9 60.00 BCR 0 genome.wustl.edu 37 22 23658274 23658275 + RNA INS - - TTC TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 22 23658274 23658275 - TTC INS BCR ENST00000436990 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BCR HGNC ENSG00000186716 tier1 24 0 0.00 23 4 14.81 BMP3 0 genome.wustl.edu 37 4 81967109 81967109 + Missense_Mutation SNP A A C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 81967109 81967109 A C SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.534 p.Q178H 0.857 pfam_TGF-b_N,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 tier1 - - 48 0 0.00 20 15 42.86 BNC1 0 genome.wustl.edu 37 15 83932270 83932270 + Missense_Mutation SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 83932270 83932270 T C SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.1733 p.E578G 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 61 0 0.00 16 33 67.35 C10orf118 0 genome.wustl.edu 37 10 115896001 115896001 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 115896001 115896001 G A SNP C10orf118 ENST00000369287 human ensembl 74_37 -1 known missense c.1331 p.S444L 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 tier1 - - 46 0 0.00 29 20 40.00 C10orf90 0 genome.wustl.edu 37 10 128193537 128193537 + Nonsense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 128193537 128193537 G A SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known nonsense c.523 p.Q175* 0.263 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 tier1 - - 41 0 0.00 39 15 27.78 C12orf40 0 genome.wustl.edu 37 12 40076598 40076598 + Missense_Mutation SNP T T G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 40076598 40076598 T G SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known missense c.872 p.L291R 0.001 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 tier1 - - 47 0 0.00 33 23 41.07 C17orf70 0 genome.wustl.edu 37 17 79508409 79508409 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 79508409 79508409 C T SNP C17orf70 ENST00000327787 human ensembl 74_37 -1 known missense c.2440 p.E814K 0.560 NULL NULL - no_errors C17orf70 HGNC ENSG00000185504 tier1 - - 59 0 0.00 56 26 31.71 C1QC 0 genome.wustl.edu 37 1 22970666 22970666 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 22970666 22970666 C T SNP C1QC ENST00000374637 human ensembl 74_37 +1 known silent c.150 p.Y50 0.442 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 67 0 0.00 56 3 5.00 C1orf168 0 genome.wustl.edu 37 1 57202804 57202804 + Missense_Mutation SNP T T G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 57202804 57202804 T G SNP C1orf168 ENST00000343433 human ensembl 74_37 -1 known missense c.1749 p.E583D 0.897 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 tier1 - - 46 0 0.00 16 16 50.00 C2CD3 0 genome.wustl.edu 37 11 73744868 73744868 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 73744868 73744868 G A SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.6337 p.P2113S 0.198 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 28 0 0.00 14 10 41.67 CA11 0 genome.wustl.edu 37 19 49147703 49147703 + Missense_Mutation SNP A A T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 49147703 49147703 A T SNP CA11 ENST00000084798 human ensembl 74_37 -1 known missense c.266 p.L89H 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA11 HGNC ENSG00000063180 tier1 - - 59 0 0.00 56 4 6.67 CAPN13 0 genome.wustl.edu 37 2 30954231 30954231 + Silent SNP T T A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 30954231 30954231 T A SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known silent c.1962 p.G654 0.936 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 tier1 - - 47 0 0.00 34 14 29.17 CATSPER2 0 genome.wustl.edu 37 15 43931190 43931190 + Missense_Mutation SNP A A C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 43931190 43931190 A C SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known missense c.754 p.F252V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 tier1 - - 67 0 0.00 28 23 45.10 CATSPER2 0 genome.wustl.edu 37 15 43931194 43931194 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 43931194 43931194 G A SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known silent c.750 p.I250 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 tier1 - - 64 0 0.00 28 23 45.10 CATSPERD 0 genome.wustl.edu 37 19 5748202 5748202 + Silent SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 5748202 5748202 A G SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known silent c.840 p.K280 0.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 tier1 - - 41 0 0.00 15 3 16.67 CBFA2T3 0 genome.wustl.edu 37 16 88945831 88945831 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 88945831 88945831 C T SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known silent c.1509 p.S503 0.034 prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 tier1 - - 62 0 0.00 35 17 32.69 CCDC152 0 genome.wustl.edu 37 5 42799848 42799848 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 42799848 42799848 G T SNP CCDC152 ENST00000361970 human ensembl 74_37 +1 known missense c.730 p.G244C 0.000 NULL NULL - no_errors CCDC152 HGNC ENSG00000198865 tier1 - - 89 0 0.00 47 4 7.84 CD3EAP 0 genome.wustl.edu 37 19 45911841 45911841 + Silent SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 45911841 45911841 G T SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known silent c.621 p.S207 0.000 pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 tier1 - - 40 0 0.00 40 4 9.09 CDH11 0 genome.wustl.edu 37 16 65032732 65032732 + Missense_Mutation SNP C C G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 65032732 65032732 C G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.256 p.G86R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 21 0 0.00 6 10 62.50 CHAC2 0 genome.wustl.edu 37 2 54001511 54001511 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 54001511 54001511 C T SNP CHAC2 ENST00000295304 human ensembl 74_37 +1 known missense c.404 p.A135V 0.964 pfam_ChaC pfam_ChaC - no_errors CHAC2 HGNC ENSG00000143942 tier1 - - 56 0 0.00 75 4 5.06 CHAT 0 genome.wustl.edu 37 10 50833616 50833616 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 50833616 50833616 G A SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.850 p.G284S 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 rs146236256 - 39 0 0.00 17 12 41.38 CHD5 0 genome.wustl.edu 37 1 6188230 6188230 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 6188230 6188230 G A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.3779 p.A1260V 0.908 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 43 0 0.00 43 4 8.51 CHGA 0 genome.wustl.edu 37 14 93397759 93397761 + In_Frame_Del DEL GAG GAG - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 14 93397759 93397761 GAG 0 DEL CHGA ENST00000216492 human ensembl 74_37 +1 known in_frame_del c.520_522 p.E177in_frame_del 0.168:0.190:0.200 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 58 0 0.00 69 5 6.76 CHRNB1 0 genome.wustl.edu 37 17 7351982 7351982 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 7351982 7351982 G A SNP CHRNB1 ENST00000306071 human ensembl 74_37 +1 known missense c.695 p.R232H 0.016 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 tier1 rs202080837 - 38 0 0.00 12 11 47.83 CHST10 0 genome.wustl.edu 37 2 101014407 101014407 + Silent SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 101014407 101014407 G T SNP CHST10 ENST00000542617 human ensembl 74_37 -1 known silent c.534 p.G178 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST10 HGNC ENSG00000115526 tier1 - - 51 0 0.00 69 4 5.48 CHTF18 0 genome.wustl.edu 37 16 845705 845705 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 845705 845705 G A SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known silent c.2823 p.Q941 0.721 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 tier1 - - 27 0 0.00 7 14 66.67 CIAPIN1 0 genome.wustl.edu 37 16 57463119 57463119 + Missense_Mutation SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 57463119 57463119 T C SNP CIAPIN1 ENST00000394391 human ensembl 74_37 -1 known missense c.902 p.K301R 1.000 pfam_Anamorsin pfam_Anamorsin - no_errors CIAPIN1 HGNC ENSG00000005194 tier1 - - 32 0 0.00 50 4 7.41 CLCN7 0 genome.wustl.edu 37 16 1500530 1500530 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 1500530 1500530 C T SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known missense c.1585 p.G529R 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 tier1 - - 85 0 0.00 48 36 42.86 CNOT7 0 genome.wustl.edu 37 8 17092319 17092319 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 8 17092319 17092319 G A SNP CNOT7 ENST00000361272 human ensembl 74_37 -1 known missense c.524 p.P175L 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT7 HGNC ENSG00000198791 tier1 - - 46 0 0.00 13 10 43.48 CNTNAP5 0 genome.wustl.edu 37 2 125521620 125521620 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 125521620 125521620 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.2426 p.A809V 0.991 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 75 0 0.00 32 17 34.69 COL12A1 0 genome.wustl.edu 37 6 75831041 75831041 + Nonsense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 75831041 75831041 C A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known nonsense c.7063 p.E2355* 0.997 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 68 0 0.00 59 24 28.92 COL4A5 0 genome.wustl.edu 37 X 107783031 107783031 + Frame_Shift_Del DEL A A - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c X 107783031 107783031 A - DEL COL4A5 ENST00000328300 human ensembl 74_37 +1 known frame_shift_del c.137 p.K47fs 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 25 0 0.00 26 2 7.14 COL5A1 0 genome.wustl.edu 37 9 137710737 137710737 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 137710737 137710737 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.4382 p.P1461L 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 66 0 0.00 71 18 20.22 COL9A3 0 genome.wustl.edu 37 20 61468375 61468375 + RNA SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 20 61468375 61468375 G A SNP COL9A3 ENST00000466532 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL9A3 HGNC ENSG00000092758 tier1 - - 54 0 0.00 35 22 38.60 CPNE5 0 genome.wustl.edu 37 6 36762394 36762394 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 36762394 36762394 C T SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known missense c.437 p.G146D 1.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 tier1 - - 39 0 0.00 53 4 7.02 CPSF6 0 genome.wustl.edu 37 12 69652800 69652800 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 69652800 69652800 C T SNP CPSF6 ENST00000266679 human ensembl 74_37 +1 known silent c.1236 p.S412 0.901 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 tier1 - - 31 0 0.00 17 8 32.00 CRELD2 0 genome.wustl.edu 37 22 50320932 50320932 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 22 50320932 50320932 C T SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known silent c.1186 p.L396 0.000 NULL pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 34 0 0.00 31 3 8.82 CSHL1 0 genome.wustl.edu 37 17 61987063 61987063 + RNA SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 61987063 61987063 G A SNP CSHL1 ENST00000558099 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors CSHL1 HGNC ENSG00000204414 tier1 - - 86 0 0.00 77 32 29.36 CSMD1 0 genome.wustl.edu 37 8 2824141 2824141 + Frame_Shift_Del DEL C C - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 8 2824141 2824141 C - DEL CSMD1 ENST00000520002 human ensembl 74_37 -1 known frame_shift_del c.9054 p.H3019fs 0.192 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 CSMD1 HGNC ENSG00000183117 tier1 45 0 0.00 28 14 33.33 CT47B1 0 genome.wustl.edu 37 X 120009285 120009285 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c X 120009285 120009285 G A SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known silent c.240 p.S80 0.001 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 tier1 - - 44 0 0.00 1 69 98.57 CTPS1 0 genome.wustl.edu 37 1 41448956 41448956 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 41448956 41448956 G A SNP CTPS1 ENST00000543104 human ensembl 74_37 +1 known silent c.15 p.K5 0.130 NULL pfam_CTP_synthase_N,superfamily_P-loop_NTPase - no_errors CTPS1 HGNC ENSG00000171793 tier1 - - 52 0 0.00 55 4 6.78 DDAH1 0 genome.wustl.edu 37 1 85824494 85824494 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 85824494 85824494 G T SNP DDAH1 ENST00000284031 human ensembl 74_37 -1 known missense c.340 p.L114I 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 28 0 0.00 26 2 7.14 DGKB 0 genome.wustl.edu 37 7 14722292 14722292 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 14722292 14722292 G A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known silent c.921 p.V307 0.990 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 tier1 - - 61 0 0.00 71 18 20.22 DIS3L2 0 genome.wustl.edu 37 2 232952395 232952395 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 232952395 232952395 G T SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known missense c.565 p.G189C 0.748 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 tier1 - - 43 0 0.00 33 4 10.81 DKC1 0 genome.wustl.edu 37 X 154005130 154005130 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c X 154005130 154005130 G A SNP DKC1 ENST00000369550 human ensembl 74_37 +1 known silent c.1533 p.L511 0.000 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 tier1 - - 27 0 0.00 32 25 43.86 DKK4 0 genome.wustl.edu 37 8 42231698 42231698 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 8 42231698 42231698 C T SNP DKK4 ENST00000220812 human ensembl 74_37 -1 known missense c.595 p.G199R 1.000 pfam_Prokineticin_domain pfam_Dickkopf_N,pfam_Prokineticin_domain - no_errors DKK4 HGNC ENSG00000104371 35 0 0.00 32 2 5.88 DMXL2 0 genome.wustl.edu 37 15 51839582 51839582 + Nonsense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 51839582 51839582 C T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known nonsense c.591 p.W197* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 26 0 0.00 27 2 6.90 DNAH11 0 genome.wustl.edu 37 7 21583082 21583082 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 21583082 21583082 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.219 p.T73 0.709 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 70 0 0.00 78 19 19.59 DNAH3 0 genome.wustl.edu 37 16 20996802 20996802 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 20996802 20996802 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.7262 p.R2421H 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 45 0 0.00 30 3 9.09 DNAH5 0 genome.wustl.edu 37 5 13839580 13839580 + Missense_Mutation SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 13839580 13839580 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.5767 p.Y1923H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 36 0 0.00 4 27 87.10 DNER 0 genome.wustl.edu 37 2 230253070 230253070 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 230253070 230253070 G T SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.1766 p.P589H 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 54 0 0.00 40 3 6.98 DNM1 0 genome.wustl.edu 37 9 130980992 130980992 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 130980992 130980992 C T SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known missense c.367 p.R123C 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 tier1 - - 71 0 0.00 16 59 78.67 DOCK3 0 genome.wustl.edu 37 3 51264859 51264859 + Missense_Mutation SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 51264859 51264859 A G SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.1523 p.E508G 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 57 0 0.00 66 4 5.71 DOPEY1 0 genome.wustl.edu 37 6 83878179 83878180 + RNA INS - - T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 83878179 83878180 - T INS DOPEY1 ENST00000484282 human ensembl 74_37 +1 known rna NULL NULL 0.998:1.000 - - - no_errors DOPEY1 HGNC ENSG00000083097 tier1 16 0 0.00 12 3 20.00 DPH2 0 genome.wustl.edu 37 1 44436634 44436634 + RNA SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 44436634 44436634 G A SNP DPH2 ENST00000477294 human ensembl 74_37 +1 known rna NULL NULL 0.949 - - - no_errors DPH2 HGNC ENSG00000132768 tier1 - - 26 0 0.00 13 3 18.75 DPYSL4 0 genome.wustl.edu 37 10 134017229 134017229 + RNA SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 134017229 134017229 C T SNP DPYSL4 ENST00000471544 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DPYSL4 HGNC ENSG00000151640 tier1 - - 28 0 0.00 26 4 13.33 DUSP22 0 genome.wustl.edu 37 6 345905 345905 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 345905 345905 C T SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known silent c.240 p.R80 0.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 tier1 rs144845390 - 73 0 0.00 66 17 20.48 DYNC2H1 0 genome.wustl.edu 37 11 103107245 103107245 + Nonsense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 103107245 103107245 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known nonsense c.9796 p.E3266* 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 74 0 0.00 49 3 5.77 ECE2 0 genome.wustl.edu 37 3 184008605 184008605 + Silent SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 184008605 184008605 T C SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known silent c.2145 p.G715 0.163 pfam_Peptidase_M13_C,prints_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 79 0 0.00 76 4 5.00 EDEM1 0 genome.wustl.edu 37 3 5252815 5252815 + Missense_Mutation SNP G G C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 5252815 5252815 G C SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known missense c.1594 p.A532P 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 tier1 - - 61 0 0.00 31 52 62.65 EGLN1 0 genome.wustl.edu 37 1 231502060 231502060 + RNA SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 231502060 231502060 G T SNP EGLN1 ENST00000476717 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors EGLN1 HGNC ENSG00000135766 tier1 - - 52 0 0.00 23 3 11.54 EHF 0 genome.wustl.edu 37 11 34680231 34680231 + Missense_Mutation SNP G G C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 34680231 34680231 G C SNP EHF ENST00000257831 human ensembl 74_37 +1 known missense c.759 p.K253N 0.380 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors EHF HGNC ENSG00000135373 tier1 - - 61 0 0.00 3 26 89.66 EIF3K 0 genome.wustl.edu 37 19 39123269 39123270 + In_Frame_Ins INS - - CAG TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 39123269 39123270 - CAG INS EIF3K ENST00000248342 human ensembl 74_37 +1 known in_frame_ins c.450_451 p.151in_frame_insQ 1.000:1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold - no_errors EIF3K HGNC ENSG00000178982 tier1 56 0 0.00 24 9 27.27 ENSG00000224761 0 genome.wustl.edu 37 10 38464759 38464759 + RNA SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 38464759 38464759 C T SNP ENSG00000224761 ENST00000423162 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors RP11-508N22.8 Clone_based_vega_gene ENSG00000224761 tier1 - - 29 0 0.00 17 20 54.05 ENSG00000226524 0 genome.wustl.edu 37 6 88109151 88109151 + Splice_Site SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 88109151 88109151 G T SNP ENSG00000226524 ENST00000448282 human ensembl 74_37 +1 known splice_site c.177-1 e3-1 0.000 - - - no_errors RP1-102H19.8 Clone_based_vega_gene ENSG00000226524 tier1 - - 50 0 0.00 51 5 8.93 ENSG00000231512 0 genome.wustl.edu 37 1 243211043 243211043 + RNA SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 243211043 243211043 A G SNP ENSG00000231512 ENST00000420830 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-261C10.2 Clone_based_vega_gene ENSG00000231512 tier1 - - 196 0 0.00 84 115 57.79 ENSG00000258377 0 genome.wustl.edu 37 14 50089989 50089989 + RNA DEL T T - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 14 50089989 50089989 T - DEL ENSG00000258377 ENST00000555043 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-649E7.5 Clone_based_vega_gene ENSG00000258377 tier1 38 0 0.00 40 12 23.08 ENSG00000259455 0 genome.wustl.edu 37 15 23407236 23407236 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 23407236 23407236 G A SNP ENSG00000259455 ENST00000558241 human ensembl 74_37 -1 novel missense c.1600 p.R534W 0.035 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 tier1 - - 9 0 0.00 4 6 60.00 ENSG00000260206 0 genome.wustl.edu 37 15 75931413 75931413 + RNA DEL A A - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 75931413 75931413 A - DEL ENSG00000260206 ENST00000564683 human ensembl 74_37 +1 known rna NULL NULL 0.127 - - - no_errors CTD-2026K11.2 Clone_based_vega_gene ENSG00000260206 tier1 21 0 0.00 22 2 8.33 EOGT 0 genome.wustl.edu 37 3 69047176 69047176 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 69047176 69047176 C T SNP EOGT ENST00000383701 human ensembl 74_37 -1 known missense c.817 p.V273M 1.000 pfam_Glycosyltransferase_AER61 pfam_Glycosyltransferase_AER61 - no_errors EOGT HGNC ENSG00000163378 26 0 0.00 31 2 6.06 ERBB2 0 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.929 p.S310F 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 44 0 0.00 41 473 92.02 ERVV-2 0 genome.wustl.edu 37 19 53553339 53553339 + Missense_Mutation SNP C C G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 53553339 53553339 C G SNP ERVV-2 ENST00000601417 human ensembl 74_37 +1 known missense c.835 p.P279A 0.004 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-2 HGNC ENSG00000268964 tier1 rs200390313 - 43 0 0.00 1 2 66.67 ESPL1 0 genome.wustl.edu 37 12 53677886 53677886 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 53677886 53677886 G A SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.3122 p.R1041H 1.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 44 0 0.00 41 14 25.45 ESPNP 0 genome.wustl.edu 37 1 17026043 17026044 + RNA INS - - GCA TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 17026043 17026044 - GCA INS ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 0.970:0.965 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 8 0 0.00 9 4 30.77 EXD2 0 genome.wustl.edu 37 14 69695648 69695648 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 14 69695648 69695648 G T SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.449 p.R150I 0.964 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 tier1 - - 52 0 0.00 66 4 5.71 FAM124A 0 genome.wustl.edu 37 13 51854757 51854757 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 13 51854757 51854757 C T SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known missense c.1114 p.P372S 0.000 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 39 0 0.00 49 3 5.77 FAM126B 0 genome.wustl.edu 37 2 201846001 201846001 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 201846001 201846001 G T SNP FAM126B ENST00000418596 human ensembl 74_37 -1 known missense c.1585 p.Q529K 1.000 NULL pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 27 0 0.00 30 4 11.76 FAM188A 0 genome.wustl.edu 37 10 15876565 15876565 + Missense_Mutation SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 15876565 15876565 T C SNP FAM188A ENST00000277632 human ensembl 74_37 -1 known missense c.627 p.I209M 1.000 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 tier1 - - 55 0 0.00 60 4 6.25 FAM19A1 0 genome.wustl.edu 37 3 68588032 68588032 + Splice_Site SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 68588032 68588032 G T SNP FAM19A1 ENST00000478136 human ensembl 74_37 +1 known splice_site c.384+1 e3+1 1.000 - - - no_errors FAM19A1 HGNC ENSG00000183662 tier1 - - 46 0 0.00 20 27 57.45 FAM78A 0 genome.wustl.edu 37 9 134136426 134136426 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 134136426 134136426 C T SNP FAM78A ENST00000372271 human ensembl 74_37 -1 known missense c.635 p.R212H 1.000 NULL NULL - no_errors FAM78A HGNC ENSG00000126882 20 0 0.00 25 2 7.41 FANCB 0 genome.wustl.edu 37 X 14882980 14882980 + Missense_Mutation SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c X 14882980 14882980 T C SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.653 p.E218G 1.000 NULL NULL - no_errors FANCB HGNC ENSG00000181544 tier1 - - 26 0 0.00 41 4 8.89 FAT4 0 genome.wustl.edu 37 4 126389802 126389802 + Missense_Mutation SNP T T A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 126389802 126389802 T A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.12035 p.L4012H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 78 0 0.00 34 27 44.26 FGFRL1 0 genome.wustl.edu 37 4 1006305 1006305 + Missense_Mutation SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 1006305 1006305 T C SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known missense c.32 p.L11P 0.263 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 tier1 - - 16 0 0.00 2 4 66.67 FLT1 0 genome.wustl.edu 37 13 29012409 29012409 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 13 29012409 29012409 G A SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known silent c.462 p.L154 0.007 smart_Ig_sub,smart_Ig_sub2,prints_VEGFR1_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 - - 61 0 0.00 65 15 18.75 FNDC1 0 genome.wustl.edu 37 6 159653833 159653833 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 159653833 159653833 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.2289 p.M763I 0.001 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 tier1 - - 71 0 0.00 22 20 45.45 GLTSCR1L 0 genome.wustl.edu 37 6 42832452 42832452 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 42832452 42832452 G A SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known silent c.2508 p.E836 0.993 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 tier1 - - 44 0 0.00 40 19 32.20 GMIP 0 genome.wustl.edu 37 19 19752628 19752628 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 19752628 19752628 G A SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.229 p.P77S 0.963 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 40 0 0.00 73 4 5.19 GOLGA2P5 0 genome.wustl.edu 37 12 100562921 100562921 + RNA DEL T T - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 100562921 100562921 T - DEL GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 tier1 22 0 0.00 17 6 26.09 GOLGB1 0 genome.wustl.edu 37 3 121410779 121410779 + Nonsense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 121410779 121410779 G A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known nonsense c.7417 p.R2473* 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 57 0 0.00 37 40 51.95 GRAP2 0 genome.wustl.edu 37 22 40365485 40365485 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 22 40365485 40365485 C T SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known missense c.761 p.A254V 0.070 NULL pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 34 0 0.00 26 3 10.34 GRHPR 0 genome.wustl.edu 37 9 37424873 37424873 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 37424873 37424873 C T SNP GRHPR ENST00000318158 human ensembl 74_37 +1 known missense c.115 p.P39S 1.000 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors GRHPR HGNC ENSG00000137106 93 0 0.00 76 4 5.00 GRID1 0 genome.wustl.edu 37 10 87361822 87361822 + RNA SNP T T G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 87361822 87361822 T G SNP GRID1 ENST00000552278 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 61 0 0.00 32 49 60.49 GRID1 0 genome.wustl.edu 37 10 87361885 87361885 + RNA SNP T T A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 87361885 87361885 T A SNP GRID1 ENST00000552278 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 73 0 0.00 29 36 55.38 GRIK3 0 genome.wustl.edu 37 1 37325592 37325592 + Silent SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 37325592 37325592 G T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known silent c.813 p.P271 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 50 0 0.00 37 4 9.76 GRM1 0 genome.wustl.edu 37 6 146755745 146755745 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 146755745 146755745 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.3398 p.A1133V 0.546 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 41 0 0.00 7 7 50.00 GVINP1 0 genome.wustl.edu 37 11 6740194 6740194 + RNA SNP T T G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 6740194 6740194 T G SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 35 0 0.00 37 4 9.76 HCN1 0 genome.wustl.edu 37 5 45303785 45303785 + Frame_Shift_Del DEL T T - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 45303785 45303785 T - DEL HCN1 ENST00000303230 human ensembl 74_37 -1 known frame_shift_del c.1534 p.M512fs 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 57 0 0.00 38 2 5.00 HIST1H2AE 0 genome.wustl.edu 37 6 26217425 26217427 + In_Frame_Del DEL AAG AAG - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 26217425 26217427 AAG - DEL HIST1H2AE ENST00000303910 human ensembl 74_37 +1 known in_frame_del c.223_225 p.K76in_frame_del 1.000:1.000:1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC ENSG00000168274 tier1 121 0 0.00 106 31 22.63 HMCN1 0 genome.wustl.edu 37 1 186115011 186115011 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 186115011 186115011 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14564 p.G4855E 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 - - 43 0 0.00 24 26 52.00 HMGB1P5 0 genome.wustl.edu 37 3 22423956 22423956 + RNA SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 22423956 22423956 G A SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 0.967 - - - no_errors HMGB1P5 HGNC ENSG00000132967 tier1 - - 35 0 0.00 28 7 20.00 HN1L 0 genome.wustl.edu 37 16 1735557 1735557 + Silent SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 1735557 1735557 T C SNP HN1L ENST00000248098 human ensembl 74_37 +1 known silent c.162 p.P54 0.992 NULL NULL - no_errors HN1L HGNC ENSG00000206053 61 0 0.00 60 4 6.25 HNRNPH3 0 genome.wustl.edu 37 10 70096998 70096999 + Frame_Shift_Del DEL AT AT - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 70096998 70096999 AT - DEL HNRNPH3 ENST00000265866 human ensembl 74_37 +1 known frame_shift_del c.20_21 p.H7fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH3 HGNC ENSG00000096746 tier1 60 0 0.00 74 26 26.00 HOPX 0 genome.wustl.edu 37 4 57522152 57522152 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 57522152 57522152 G A SNP HOPX ENST00000554144 human ensembl 74_37 -1 known silent c.69 p.T23 0.000 superfamily_Homeodomain-like superfamily_Homeodomain-like - no_errors HOPX HGNC ENSG00000171476 tier1 - - 47 0 0.00 19 19 50.00 HOXA4 0 genome.wustl.edu 37 7 27170323 27170323 + Silent SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 27170323 27170323 G T SNP HOXA4 ENST00000360046 human ensembl 74_37 -1 known silent c.30 p.S10 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 tier1 - - 38 0 0.00 69 4 5.48 HOXC12 0 genome.wustl.edu 37 12 54348838 54348838 + Missense_Mutation SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 54348838 54348838 T C SNP HOXC12 ENST00000243103 human ensembl 74_37 +1 known missense c.125 p.L42P 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 tier1 - - 96 0 0.00 95 5 5.00 HSPG2 0 genome.wustl.edu 37 1 22201217 22201217 + Silent SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 22201217 22201217 A G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.3420 p.C1140 1.000 pfam_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 88 0 0.00 71 4 5.33 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862949 10862949 + Missense_Mutation SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 21 10862949 10862949 A G SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.245 p.K82R 0.002 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier1 - - 307 0 0.00 248 41 14.19 IL9R 0 genome.wustl.edu 37 X 155234213 155234213 + Missense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c X 155234213 155234213 C A SNP IL9R ENST00000244174 human ensembl 74_37 +1 known missense c.562 p.Q188K 0.921 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL9R HGNC ENSG00000124334 tier1 - - 124 0 0.00 133 32 19.39 IQCF3 0 genome.wustl.edu 37 3 51864628 51864628 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 51864628 51864628 G A SNP IQCF3 ENST00000444293 human ensembl 74_37 +1 putative missense c.166 p.D56N 0.000 NULL NULL - no_errors IQCF3 HGNC ENSG00000229972 tier1 - - 53 0 0.00 17 31 64.58 IQGAP2 0 genome.wustl.edu 37 5 75893335 75893335 + Missense_Mutation SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 75893335 75893335 A G SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.979 p.K327E 0.605 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_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 tier1 - - 30 0 0.00 13 8 38.10 ITGB7 0 genome.wustl.edu 37 12 53585372 53585372 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 53585372 53585372 G A SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known missense c.2365 p.R789C 0.004 pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 tier1 rs141610554 - 46 0 0.00 40 15 27.27 ITPR3 0 genome.wustl.edu 37 6 33646233 33646233 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 33646233 33646233 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.3684 p.T1228 0.002 pfam_Ca-rel_channel 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 - - 37 0 0.00 23 13 36.11 JAK3 0 genome.wustl.edu 37 19 17952208 17952208 + Missense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 17952208 17952208 C A SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.1132 p.G378C 1.000 smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 tier1 - - 61 0 0.00 70 4 5.41 KCNG1 0 genome.wustl.edu 37 20 49626457 49626457 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 20 49626457 49626457 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.419 p.R140H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 tier1 - - 50 0 0.00 51 19 27.14 KCNJ15 0 genome.wustl.edu 37 21 39671196 39671196 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 21 39671196 39671196 C T SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known missense c.13 p.H5Y 0.002 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 tier1 - - 54 0 0.00 24 14 35.00 KCNN1 0 genome.wustl.edu 37 19 18096255 18096255 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 18096255 18096255 G A SNP KCNN1 ENST00000222249 human ensembl 74_37 +1 known missense c.1052 p.G351D 1.000 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN1 HGNC ENSG00000105642 tier1 - - 28 0 0.00 23 4 14.81 KCNN2 0 genome.wustl.edu 37 5 113740309 113740309 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 113740309 113740309 G T SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.757 p.D253Y 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 tier1 - - 60 0 0.00 2 36 94.74 KIAA0319 0 genome.wustl.edu 37 6 24566864 24566864 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 24566864 24566864 G A SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known silent c.2253 p.S751 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 30 0 0.00 34 2 5.56 KIAA0319 0 genome.wustl.edu 37 6 24596453 24596453 + Missense_Mutation SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 24596453 24596453 A G SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.449 p.L150P 0.000 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 30 0 0.00 32 2 5.88 KIAA0907 0 genome.wustl.edu 37 1 155891383 155891383 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 155891383 155891383 G T SNP KIAA0907 ENST00000368321 human ensembl 74_37 -1 known missense c.1049 p.P350H 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 tier1 - - 41 0 0.00 38 4 9.52 KIAA1430 0 genome.wustl.edu 37 4 186112044 186112044 + Missense_Mutation SNP A A T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 186112044 186112044 A T SNP KIAA1430 ENST00000296775 human ensembl 74_37 -1 known missense c.307 p.L103M 0.000 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 tier1 - - 51 0 0.00 31 23 42.59 KIAA1984-AS1 0 genome.wustl.edu 37 9 139701529 139701529 + RNA SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 139701529 139701529 C T SNP KIAA1984-AS1 ENST00000414656 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1984-AS1 HGNC ENSG00000228544 25 0 0.00 33 4 10.81 KIAA2018 0 genome.wustl.edu 37 3 113376116 113376116 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 113376116 113376116 C T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.4413 p.Q1471 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 - - 39 0 0.00 39 4 9.30 KIF22 0 genome.wustl.edu 37 16 29808342 29808342 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 29808342 29808342 C T SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.199 p.R67W 0.988 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 tier1 - - 36 0 0.00 27 4 12.90 KLHL10 0 genome.wustl.edu 37 17 39998420 39998420 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 39998420 39998420 G T SNP KLHL10 ENST00000293303 human ensembl 74_37 +1 known missense c.540 p.E180D 1.000 pfam_BACK,smart_BACK,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 KLHL10 HGNC ENSG00000161594 tier1 - - 53 0 0.00 350 243 40.91 KRT1 0 genome.wustl.edu 37 12 53069172 53069172 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 53069172 53069172 G A SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known silent c.1740 p.S580 0.005 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 tier1 - - 75 0 0.00 36 42 53.85 LILRA2 0 genome.wustl.edu 37 19 55098837 55098837 + RNA SNP T T G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 55098837 55098837 T G SNP LILRA2 ENST00000472992 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LILRA2 HGNC ENSG00000239998 tier1 - - 63 0 0.00 5 47 90.38 LIN37 0 genome.wustl.edu 37 19 36245292 36245292 + Splice_Site SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 36245292 36245292 A G SNP LIN37 ENST00000301159 human ensembl 74_37 +1 known splice_site c.660-2 e9-2 1.000 - - - no_errors LIN37 HGNC ENSG00000267796 35 0 0.00 28 2 6.67 LINGO1 0 genome.wustl.edu 37 15 77907093 77907093 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 77907093 77907093 G A SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.1156 p.R386W 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 69 0 0.00 73 32 30.48 LOC100127967 0 genome.wustl.edu 37 12 53003850 53003850 + RNA SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 53003850 53003850 T C SNP LOC100127967 ENST00000552364 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000257495 tier1 rs200370647 - 46 0 0.00 50 13 20.63 LOC100130950 0 genome.wustl.edu 37 17 5126838 5126839 + RNA INS - - T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 5126838 5126839 - T INS LOC100130950 ENST00000575601 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-333E1.1 Clone_based_vega_gene ENSG00000261879 tier1 51 0 0.00 42 8 16.00 LPHN3 0 genome.wustl.edu 37 4 62599270 62599270 + Nonsense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 62599270 62599270 C A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known nonsense c.1397 p.S466* 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 22 0 0.00 10 8 44.44 LRCH1 0 genome.wustl.edu 37 13 47275284 47275285 + Frame_Shift_Ins INS - - AT TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 13 47275284 47275285 - AT INS LRCH1 ENST00000389798 human ensembl 74_37 +1 known frame_shift_ins c.1342_1343 p.A450fs 0.992:0.999 NULL pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 tier1 27 0 0.00 28 14 33.33 LRFN5 0 genome.wustl.edu 37 14 42356204 42356204 + Missense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 14 42356204 42356204 C A SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.376 p.H126N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 42 0 0.00 25 15 37.50 LRRC38 0 genome.wustl.edu 37 1 13839644 13839644 + Nonsense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 13839644 13839644 C A SNP LRRC38 ENST00000376085 human ensembl 74_37 -1 known nonsense c.445 p.E149* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC38 HGNC ENSG00000162494 tier1 - - 92 0 0.00 38 32 45.71 LRRC4C 0 genome.wustl.edu 37 11 40136997 40136997 + Silent SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 40136997 40136997 C A SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known silent c.846 p.L282 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 28 0 0.00 3 24 88.89 LY75 0 genome.wustl.edu 37 2 160735803 160735803 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 160735803 160735803 G A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known silent c.1482 p.D494 0.024 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 rs141523249 - 42 0 0.00 40 13 24.53 LY86 0 genome.wustl.edu 37 6 6589069 6589069 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 6589069 6589069 C T SNP LY86 ENST00000230568 human ensembl 74_37 +1 known silent c.102 p.S34 0.001 NULL pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY86 HGNC ENSG00000112799 tier1 rs144373281 - 61 0 0.00 35 17 32.69 MAFF 0 genome.wustl.edu 37 22 38610597 38610597 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 22 38610597 38610597 C T SNP MAFF ENST00000338483 human ensembl 74_37 +1 known silent c.207 p.R69 0.999 pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFF HGNC ENSG00000185022 tier1 - - 41 0 0.00 41 10 19.61 MALAT1 0 genome.wustl.edu 37 11 65268480 65268480 + RNA DEL T T - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 65268480 65268480 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 51 0 0.00 34 6 15.00 MBD2 0 genome.wustl.edu 37 18 51690975 51690975 + Frame_Shift_Del DEL C C - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 18 51690975 51690975 C - DEL MBD2 ENST00000256429 human ensembl 74_37 -1 known frame_shift_del c.1027 p.A343fs 1.000 NULL pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC ENSG00000134046 tier1 53 0 0.00 17 2 10.53 MESDC2 0 genome.wustl.edu 37 15 81271765 81271765 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 81271765 81271765 G T SNP MESDC2 ENST00000261758 human ensembl 74_37 -1 known missense c.500 p.A167D 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 33 0 0.00 34 4 10.53 METTL17 0 genome.wustl.edu 37 14 21464788 21464788 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 14 21464788 21464788 C T SNP METTL17 ENST00000382985 human ensembl 74_37 +1 known missense c.1183 p.R395W 0.730 pfam_Ribosomal_Rsm22_bac-type pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 tier1 rs148330410 - 23 0 0.00 10 25 71.43 MICAL3 0 genome.wustl.edu 37 22 18301005 18301005 + Frame_Shift_Del DEL C C - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 22 18301005 18301005 C - DEL MICAL3 ENST00000441493 human ensembl 74_37 -1 known frame_shift_del c.4422 p.K1475fs 0.983 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 16 0 0.00 7 8 53.33 MIER2 0 genome.wustl.edu 37 19 311876 311876 + Frame_Shift_Del DEL C C - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 311876 311876 C - DEL MIER2 ENST00000264819 human ensembl 74_37 -1 known frame_shift_del c.953 p.G318fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 tier1 40 0 0.00 8 2 20.00 MIR302C 0 genome.wustl.edu 37 4 113569548 113569548 + RNA SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 113569548 113569548 T C SNP MIR302C ENST00000362232 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors MIR302C HGNC ENSG00000199102 tier1 - - 46 0 0.00 20 18 47.37 MIR378B 0 genome.wustl.edu 37 3 10371963 10371964 + RNA DEL AA AA - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 10371963 10371964 AA - DEL MIR378B ENST00000578876 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR378B HGNC ENSG00000264534 tier1 35 0 0.00 28 11 28.21 MIR600HG 0 genome.wustl.edu 37 9 125874872 125874872 + RNA SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 125874872 125874872 C A SNP MIR600HG ENST00000449175 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MIR600HG HGNC ENSG00000236901 tier1 - - 59 0 0.00 55 21 27.63 MKI67 0 genome.wustl.edu 37 10 129906796 129906796 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 129906796 129906796 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.3308 p.A1103V 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 84 0 0.00 69 4 5.48 MMP23B 0 genome.wustl.edu 37 1 1569848 1569849 + Frame_Shift_Ins INS - - CT TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 1569848 1569849 0 CT INS MMP23B ENST00000356026 human ensembl 74_37 +1 known frame_shift_ins c.1020_1021 p.E341fs 0.997:1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Pept_M10_metallopeptidase,pfam_ShK_toxin,smart_Peptidase_Metallo,smart_ShK_toxin,smart_Ig_sub,pfscan_Ig-like_dom,prints_Pept_M10A - no_errors MMP23B HGNC ENSG00000189409 9 0 0.00 4 4 50.00 MOCS1 0 genome.wustl.edu 37 6 39880077 39880077 + Missense_Mutation SNP G G C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 39880077 39880077 G C SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known missense c.912 p.I304M 1.000 pfam_Mob_synth_C,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 tier1 - - 65 0 0.00 51 13 20.31 MOSPD2 0 genome.wustl.edu 37 X 14891844 14891844 + Nonsense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c X 14891844 14891844 G T SNP MOSPD2 ENST00000380492 human ensembl 74_37 +1 known nonsense c.43 p.E15* 0.998 superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom - no_errors MOSPD2 HGNC ENSG00000130150 tier1 - - 33 0 0.00 57 4 6.56 MPG 0 genome.wustl.edu 37 16 135445 135445 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 135445 135445 G A SNP MPG ENST00000219431 human ensembl 74_37 +1 known missense c.566 p.G189D 1.000 pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 tier1 - - 66 0 0.00 24 28 53.85 MRPS5 0 genome.wustl.edu 37 2 95780886 95780886 + Nonsense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 95780886 95780886 G A SNP MRPS5 ENST00000272418 human ensembl 74_37 -1 known nonsense c.202 p.Q68* 0.971 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 tier1 - - 42 0 0.00 61 4 6.06 MSH3 0 genome.wustl.edu 37 5 79968645 79968645 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 79968645 79968645 C T SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known missense c.995 p.A332V 1.000 pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 - - 70 0 0.00 5 42 89.36 MSTN 0 genome.wustl.edu 37 2 190927070 190927070 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 190927070 190927070 G A SNP MSTN ENST00000260950 human ensembl 74_37 -1 known missense c.253 p.P85S 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 tier1 - - 64 0 0.00 33 30 47.62 MT-ND5 0 genome.wustl.edu 37 MT 13957 13957 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c MT 13957 13957 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1621 p.G541S NULL pfam_NADH_DH_su5_C pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 14 0 0.00 0 37 97.37 MTMR3 0 genome.wustl.edu 37 22 30414045 30414045 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 22 30414045 30414045 G T SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.1804 p.D602Y 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 tier1 - - 39 0 0.00 58 28 32.56 MTR 0 genome.wustl.edu 37 1 237025632 237025632 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 237025632 237025632 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.2293 p.V765I 0.000 pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 - - 84 0 0.00 58 4 6.45 MTR 0 genome.wustl.edu 37 1 237026804 237026804 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 237026804 237026804 C T SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.2355 p.H785 0.111 pfam_Cobalamin-bd,superfamily_Cobalamin-bd,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 85 0 0.00 44 4 8.33 MUC6 0 genome.wustl.edu 37 11 1030955 1030955 + Missense_Mutation SNP C C G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 1030955 1030955 C G SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.676 p.A226P 0.011 smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 84 0 0.00 5 8 61.54 MYCT1 0 genome.wustl.edu 37 6 153042927 153042927 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 153042927 153042927 G A SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.247 p.G83R 1.000 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 tier1 - - 54 0 0.00 28 14 33.33 MYH1 0 genome.wustl.edu 37 17 10404047 10404047 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 10404047 10404047 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3761 p.R1254H 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 67 0 0.00 38 31 44.93 MYPN 0 genome.wustl.edu 37 10 69881862 69881862 + Nonsense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 69881862 69881862 G T SNP MYPN ENST00000358913 human ensembl 74_37 +1 known nonsense c.667 p.E223* 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 34 0 0.00 52 3 5.45 NASP 0 genome.wustl.edu 37 1 46073323 46073323 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 46073323 46073323 G A SNP NASP ENST00000402363 human ensembl 74_37 +1 known missense c.746 p.G249E 0.008 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 52 0 0.00 26 2 7.14 NCOR1 0 genome.wustl.edu 37 17 16040727 16040727 + Splice_Site SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 16040727 16040727 C A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known splice_site c.1408-1 e13-1 1.000 - - - no_errors NCOR1 HGNC ENSG00000141027 30 0 0.00 25 3 10.71 NCR1 0 genome.wustl.edu 37 19 55424098 55424098 + Silent SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 55424098 55424098 G T SNP NCR1 ENST00000291890 human ensembl 74_37 +1 known silent c.774 p.R258 0.000 NULL smart_Ig_sub - no_errors NCR1 HGNC ENSG00000189430 tier1 - - 55 0 0.00 5 37 88.10 NEIL2 0 genome.wustl.edu 37 8 11640908 11640908 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 8 11640908 11640908 G A SNP NEIL2 ENST00000284503 human ensembl 74_37 +1 known missense c.688 p.G230R 1.000 pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL2 HGNC ENSG00000154328 tier1 - - 21 0 0.00 4 8 66.67 NEUROG1 0 genome.wustl.edu 37 5 134871157 134871157 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 134871157 134871157 C T SNP NEUROG1 ENST00000314744 human ensembl 74_37 -1 known missense c.224 p.R75H 0.573 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG1 HGNC ENSG00000181965 tier1 - - 23 0 0.00 0 19 100.00 NLRP12 0 genome.wustl.edu 37 19 54307316 54307316 + Silent SNP G G C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 54307316 54307316 G C SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known silent c.2475 p.T825 0.962 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP12 HGNC ENSG00000142405 tier1 - - 27 0 0.00 16 4 20.00 NMD3 0 genome.wustl.edu 37 3 160956549 160956549 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 160956549 160956549 G T SNP NMD3 ENST00000351193 human ensembl 74_37 +1 known missense c.688 p.D230Y 1.000 pfam_NMD3 pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 tier1 - - 55 0 0.00 54 4 6.90 NRD1 0 genome.wustl.edu 37 1 52344164 52344164 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 52344164 52344164 C T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known missense c.124 p.A42T 0.293 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 51 0 0.00 45 3 6.25 NRXN1 0 genome.wustl.edu 37 2 50463983 50463983 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 50463983 50463983 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.3466 p.V1156I 0.867 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 rs201881725 - 60 0 0.00 30 20 40.00 NTRK3 0 genome.wustl.edu 37 15 88726700 88726700 + Missense_Mutation SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 88726700 88726700 A G SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.344 p.L115P 0.999 prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 49 0 0.00 19 35 64.81 NUDCD1 0 genome.wustl.edu 37 8 110346185 110346185 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 8 110346185 110346185 G T SNP NUDCD1 ENST00000239690 human ensembl 74_37 -1 known missense c.55 p.R19S 1.000 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD1 HGNC ENSG00000120526 tier1 - - 39 0 0.00 50 4 7.41 NUP205 0 genome.wustl.edu 37 7 135255911 135255911 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 135255911 135255911 G T SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.87 p.W29C 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 tier1 - - 56 0 0.00 56 4 6.67 NWD1 0 genome.wustl.edu 37 19 16902312 16902312 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 16902312 16902312 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.3092 p.T1031M 0.038 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 40 0 0.00 28 2 6.67 OAT 0 genome.wustl.edu 37 10 126090410 126090410 + Splice_Site SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 126090410 126090410 T C SNP OAT ENST00000368845 human ensembl 74_37 -1 known splice_site c.901-2 e7-2 1.000 - - - no_errors OAT HGNC ENSG00000065154 tier1 - - 38 0 0.00 44 4 8.33 OR2C3 0 genome.wustl.edu 37 1 247695139 247695139 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 247695139 247695139 G A SNP OR2C3 ENST00000366487 human ensembl 74_37 -1 known silent c.675 p.A225 0.347 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 tier1 rs149975458 - 40 0 0.00 27 10 27.03 OR2T33 0 genome.wustl.edu 37 1 248436538 248436538 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 248436538 248436538 G A SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known silent c.579 p.F193 0.000 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 tier1 - - 36 0 0.00 44 14 24.14 OR2T8 0 genome.wustl.edu 37 1 248084898 248084898 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 248084898 248084898 C T SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known silent c.579 p.F193 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 tier1 - - 29 0 0.00 27 5 15.62 OR5M3 0 genome.wustl.edu 37 11 56237202 56237202 + Missense_Mutation SNP G G C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 56237202 56237202 G C SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.772 p.L258V 0.039 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 tier1 rs148918177 - 42 0 0.00 3 32 91.43 OS9 0 genome.wustl.edu 37 12 58111997 58111997 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 58111997 58111997 G T SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.1203 p.E401D 0.006 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 24 0 0.00 36 2 5.26 PAPPA 0 genome.wustl.edu 37 9 119109306 119109306 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 119109306 119109306 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.3782 p.T1261M 0.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 51 0 0.00 12 38 76.00 PATZ1 0 genome.wustl.edu 37 22 31724828 31724828 + Missense_Mutation SNP C C G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 22 31724828 31724828 C G SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known missense c.1590 p.E530D 1.000 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 PATZ1 HGNC ENSG00000100105 tier1 - - 48 0 0.00 54 10 15.15 PCDH10 0 genome.wustl.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 134073569 134073571 CTG - DEL PCDH10 ENST00000264360 human ensembl 74_37 +1 known in_frame_del c.2274_2276 p.C762in_frame_del 0.999:1.000:1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 50 0 0.00 32 6 15.79 PCDHA11 0 genome.wustl.edu 37 5 140250534 140250534 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 140250534 140250534 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1846 p.G616S 0.000 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 PCDHA11 HGNC ENSG00000249158 tier1 - - 138 0 0.00 85 61 41.50 PCDHGB7 0 genome.wustl.edu 37 5 140798649 140798649 + Missense_Mutation SNP A A C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 140798649 140798649 A C SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.1223 p.E408A 0.358 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 PCDHGB7 HGNC ENSG00000254122 tier1 - - 25 0 0.00 8 12 60.00 PCID2 0 genome.wustl.edu 37 13 113834524 113834525 + In_Frame_Ins INS - - TTC TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 13 113834524 113834525 - TTC INS PCID2 ENST00000246505 human ensembl 74_37 -1 known in_frame_ins c.970_969 p.323in_frame_insE 1.000:1.000 smart_PAM pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 tier1 56 0 0.00 62 15 19.48 PCLO 0 genome.wustl.edu 37 7 82546042 82546042 + Frame_Shift_Del DEL T T - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 82546042 82546042 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.11260 p.T3754fs 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 66 0 0.00 22 27 55.10 PDE4DIP 0 genome.wustl.edu 37 1 144921977 144921977 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 144921977 144921977 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1052 p.S351N 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 112 0 0.00 71 4 5.33 PHKG2 0 genome.wustl.edu 37 16 30764777 30764777 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 30764777 30764777 G T SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known missense c.455 p.R152L 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,prints_Ser-Thr/Tyr_kinase_cat_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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 46 0 0.00 34 2 5.56 PHLDB2 0 genome.wustl.edu 37 3 111688671 111688671 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 111688671 111688671 C T SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known silent c.3450 p.L1150 0.995 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 47 0 0.00 57 3 5.00 PKD1 0 genome.wustl.edu 37 16 2161095 2161095 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 2161095 2161095 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.4073 p.A1358V 0.189 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 111 0 0.00 64 41 39.05 PKD1L1 0 genome.wustl.edu 37 7 47969077 47969077 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 47969077 47969077 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.784 p.A262T 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 31 0 0.00 54 4 6.90 PKLR 0 genome.wustl.edu 37 1 155270054 155270054 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 155270054 155270054 G A SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.118 p.R40W 0.009 NULL pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 24 0 0.00 34 4 10.53 PLCG2 0 genome.wustl.edu 37 16 81934352 81934352 + Silent SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 81934352 81934352 G T SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known silent c.1329 p.S443 0.047 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 50 0 0.00 39 3 7.14 PLD1 0 genome.wustl.edu 37 3 171455451 171455452 + Splice_Site INS - - A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 171455451 171455452 - A INS PLD1 ENST00000351298 human ensembl 74_37 -1 known splice_site_ins c.161-3_161-2 e2-2 0.999:0.901 - - - no_errors PLD1 HGNC ENSG00000075651 tier1 22 0 0.00 26 3 10.34 PLEKHN1 0 genome.wustl.edu 37 1 908701 908701 + Missense_Mutation SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 908701 908701 A G SNP PLEKHN1 ENST00000379409 human ensembl 74_37 +1 known missense c.1444 p.T482A 0.994 NULL smart_Pleckstrin_homology - no_errors PLEKHN1 HGNC ENSG00000187583 tier1 - - 78 0 0.00 32 30 48.39 PLXNB2 0 genome.wustl.edu 37 22 50716391 50716391 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 22 50716391 50716391 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.4939 p.G1647R 0.034 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 - - 44 0 0.00 46 11 19.30 PNLIPRP3 0 genome.wustl.edu 37 10 118236283 118236283 + Missense_Mutation SNP A A C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 118236283 118236283 A C SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1292 p.K431T 0.620 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 tier1 - - 61 0 0.00 30 53 63.86 POM121L9P 0 genome.wustl.edu 37 22 24659950 24659950 + RNA DEL C C - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 22 24659950 24659950 C - DEL POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 tier1 19 0 0.00 22 3 12.00 PPP4C 0 genome.wustl.edu 37 16 30087741 30087741 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 30087741 30087741 C T SNP PPP4C ENST00000279387 human ensembl 74_37 +1 known missense c.43 p.R15C 0.998 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP4C HGNC ENSG00000149923 tier1 - - 73 0 0.00 60 5 7.69 PRDM15 0 genome.wustl.edu 37 21 43259831 43259831 + Missense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 21 43259831 43259831 C A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.1870 p.A624S 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 - - 60 0 0.00 53 4 6.90 PRIM2 0 genome.wustl.edu 37 6 57498976 57498976 + RNA SNP T T G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 57498976 57498976 T G SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 141 0 0.00 156 19 10.86 PRKDC 0 genome.wustl.edu 37 8 48744396 48744396 + Silent SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 8 48744396 48744396 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.8241 p.V2747 0.004 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,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 PRKDC HGNC ENSG00000253729 tier1 - - 79 0 0.00 33 38 53.52 PROKR2 0 genome.wustl.edu 37 20 5294626 5294626 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 20 5294626 5294626 G A SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known silent c.390 p.S130 0.410 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_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 tier1 rs144778137 - 58 0 0.00 67 4 5.63 PRSS23 0 genome.wustl.edu 37 11 86662289 86662289 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 86662289 86662289 C T SNP PRSS23 ENST00000533902 human ensembl 74_37 +1 putative missense c.238 p.R80C 0.205 NULL NULL - no_errors PRSS23 HGNC ENSG00000150687 74 0 0.00 37 3 7.50 PSMC4 0 genome.wustl.edu 37 19 40486024 40486024 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 40486024 40486024 G T SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known missense c.889 p.D297Y 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 tier1 - - 60 0 0.00 42 4 8.70 PTCHD2 0 genome.wustl.edu 37 1 11589626 11589626 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 11589626 11589626 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2812 p.A938T 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 55 0 0.00 23 14 37.84 PTPLA 0 genome.wustl.edu 37 10 17646048 17646049 + Splice_Site INS - - A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 17646048 17646049 - A INS PTPLA ENST00000361271 human ensembl 74_37 -1 known splice_site_ins c.258-3_258-2 e2-2 1.000:0.005 - - - no_errors PTPLA HGNC ENSG00000165996 tier1 21 0 0.00 32 2 5.88 RAB40C 0 genome.wustl.edu 37 16 675941 675941 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 675941 675941 C T SNP RAB40C ENST00000248139 human ensembl 74_37 +1 known missense c.385 p.H129Y 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 66 0 0.00 71 4 5.33 RAD51AP2 0 genome.wustl.edu 37 2 17699667 17699667 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 17699667 17699667 G A SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known missense c.16 p.P6S 0.000 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 73 0 0.00 69 4 5.48 RAD52 0 genome.wustl.edu 37 12 1025712 1025712 + RNA SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 1025712 1025712 A G SNP RAD52 ENST00000535376 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RAD52 HGNC ENSG00000002016 tier1 - - 84 0 0.00 64 4 5.88 RADIL 0 genome.wustl.edu 37 7 4917593 4917593 + Missense_Mutation SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 4917593 4917593 A G SNP RADIL ENST00000399583 human ensembl 74_37 -1 known missense c.178 p.S60P 0.919 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 tier1 - - 41 0 0.00 30 38 55.88 RADIL 0 genome.wustl.edu 37 7 4841406 4841406 + Missense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 4841406 4841406 C A SNP RADIL ENST00000399583 human ensembl 74_37 -1 known missense c.2720 p.S907I 1.000 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 11 0 0.00 42 3 6.52 RANBP17 0 genome.wustl.edu 37 5 170345828 170345828 + Missense_Mutation SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 170345828 170345828 A G SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.1066 p.R356G 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 tier1 - - 56 0 0.00 50 4 7.41 RAP1A 0 genome.wustl.edu 37 1 112233987 112233987 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 112233987 112233987 G A SNP RAP1A ENST00000356415 human ensembl 74_37 +1 known missense c.5 p.R2H 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP1A HGNC ENSG00000116473 tier1 - - 72 0 0.00 24 18 42.86 RAPGEF4 0 genome.wustl.edu 37 2 173885435 173885435 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 173885435 173885435 G A SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.2245 p.D749N 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 - - 43 0 0.00 31 21 40.38 RARRES3 0 genome.wustl.edu 37 11 63313709 63313709 + Frame_Shift_Del DEL A A - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 63313709 63313709 A - DEL RARRES3 ENST00000255688 human ensembl 74_37 +1 known frame_shift_del c.476 p.A162fs 0.001 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 tier1 46 0 0.00 44 4 8.33 RASSF5 0 genome.wustl.edu 37 1 206762282 206762283 + RNA INS - - A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 206762282 206762283 - A INS RASSF5 ENST00000481486 human ensembl 74_37 +1 putative rna NULL NULL 0.620:0.673 - - - no_errors RASSF5 HGNC ENSG00000136653 tier1 44 0 0.00 28 2 6.67 RBM20 0 genome.wustl.edu 37 10 112572521 112572521 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 10 112572521 112572521 G T SNP RBM20 ENST00000369519 human ensembl 74_37 +1 known missense c.2366 p.R789M 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors RBM20 HGNC ENSG00000203867 tier1 - - 57 0 0.00 60 4 6.15 RFNG 0 genome.wustl.edu 37 17 80007652 80007652 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 80007652 80007652 G A SNP RFNG ENST00000310496 human ensembl 74_37 -1 known silent c.729 p.I243 1.000 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors RFNG HGNC ENSG00000169733 20 0 0.00 30 2 6.25 RFXAP 0 genome.wustl.edu 37 13 37393677 37393678 + Frame_Shift_Ins INS - - G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 13 37393677 37393678 - G INS RFXAP ENST00000255476 human ensembl 74_37 +1 known frame_shift_ins c.183_184 p.S63fs 0.000:0.010 NULL NULL - no_errors RFXAP HGNC ENSG00000133111 tier1 40 0 0.00 23 7 23.33 RNF170 0 genome.wustl.edu 37 8 42720613 42720613 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 8 42720613 42720613 G A SNP RNF170 ENST00000527424 human ensembl 74_37 -1 known silent c.342 p.Y114 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_DUF1232,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF170 HGNC ENSG00000120925 19 0 0.00 14 2 12.50 RORB 0 genome.wustl.edu 37 9 77257546 77257546 + Missense_Mutation SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 77257546 77257546 A G SNP RORB ENST00000396204 human ensembl 74_37 +1 known missense c.485 p.K162R 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORB HGNC ENSG00000198963 tier1 - - 49 0 0.00 2 26 92.86 RPS6KA5 0 genome.wustl.edu 37 14 91386650 91386650 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 14 91386650 91386650 C T SNP RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known missense c.706 p.V236I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA5 HGNC ENSG00000100784 30 0 0.00 32 2 5.88 RPS8 0 genome.wustl.edu 37 1 45242355 45242355 + Silent SNP C C G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 45242355 45242355 C G SNP RPS8 ENST00000396651 human ensembl 74_37 +1 known silent c.120 p.P40 0.995 pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e - no_errors RPS8 HGNC ENSG00000142937 65 0 0.00 56 4 6.67 RS1 0 genome.wustl.edu 37 X 18662688 18662690 + In_Frame_Del DEL CTT CTT - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c X 18662688 18662690 CTT - DEL RS1 ENST00000379984 human ensembl 74_37 -1 known in_frame_del c.384_382 p.K128in_frame_del 1.000:1.000:1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC ENSG00000102104 tier1 23 0 0.00 19 19 50.00 RSRC2 0 genome.wustl.edu 37 12 122992874 122992874 + Missense_Mutation SNP T T A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 12 122992874 122992874 T A SNP RSRC2 ENST00000331738 human ensembl 74_37 -1 known missense c.926 p.E309V 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 tier1 - - 38 0 0.00 43 4 8.51 RXFP3 0 genome.wustl.edu 37 5 33937727 33937727 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 33937727 33937727 C T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known silent c.882 p.I294 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 tier1 - - 21 0 0.00 0 25 100.00 RYR3 0 genome.wustl.edu 37 15 33952417 33952417 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 33952417 33952417 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.4415 p.A1472V 0.997 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 46 0 0.00 15 22 59.46 S1PR1 0 genome.wustl.edu 37 1 101704505 101704505 + RNA SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 101704505 101704505 G A SNP S1PR1 ENST00000475289 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors S1PR1 HGNC ENSG00000170989 tier1 - - 18 0 0.00 3 3 50.00 SCN11A 0 genome.wustl.edu 37 3 38888452 38888452 + Missense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 38888452 38888452 C A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.5109 p.M1703I 0.584 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 47 0 0.00 24 13 35.14 SCN7A 0 genome.wustl.edu 37 2 167334126 167334126 + Missense_Mutation SNP T T A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 167334126 167334126 T A SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.81 p.K27N 0.103 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 43 0 0.00 35 2 5.41 SCRT2 0 genome.wustl.edu 37 20 656119 656119 + Frame_Shift_Del DEL C C - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 20 656119 656119 C - DEL SCRT2 ENST00000246104 human ensembl 74_37 -1 known frame_shift_del c.127 p.D43fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT2 HGNC ENSG00000215397 tier1 17 0 0.00 19 2 9.52 SEC24B 0 genome.wustl.edu 37 4 110448579 110448579 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 110448579 110448579 G A SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.3067 p.A1023T 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_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,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 tier1 - - 48 0 0.00 53 4 7.02 SEMA4D 0 genome.wustl.edu 37 9 91991861 91991861 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 91991861 91991861 G A SNP SEMA4D ENST00000343780 human ensembl 74_37 -1 known missense c.1769 p.S590L 0.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 tier1 - - 65 0 0.00 6 56 90.32 SGK1 0 genome.wustl.edu 37 6 134493863 134493863 + Missense_Mutation SNP C C G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 134493863 134493863 C G SNP SGK1 ENST00000367858 human ensembl 74_37 -1 known missense c.884 p.R295P 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_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK1 HGNC ENSG00000118515 tier1 - - 37 0 0.00 16 22 57.89 SHANK3 0 genome.wustl.edu 37 22 51135698 51135698 + Frame_Shift_Del DEL G G - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 22 51135698 51135698 G - DEL SHANK3 ENST00000262795 human ensembl 74_37 +1 known frame_shift_del c.1332 p.A447fs 0.002 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,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 SHANK3 HGNC ENSG00000251322 tier1 20 0 0.00 12 4 25.00 SLC25A26 0 genome.wustl.edu 37 3 66313792 66313792 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 66313792 66313792 G T SNP SLC25A26 ENST00000354883 human ensembl 74_37 +1 known missense c.442 p.V148F 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A26 HGNC ENSG00000144741 tier1 - - 49 0 0.00 54 4 6.90 SLC2A9 0 genome.wustl.edu 37 4 10027509 10027510 + RNA INS - - A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 10027509 10027510 - A INS SLC2A9 ENST00000509214 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SLC2A9 HGNC ENSG00000109667 tier1 30 0 0.00 32 5 13.51 SLC39A10 0 genome.wustl.edu 37 2 196573445 196573445 + Missense_Mutation SNP A A C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 196573445 196573445 A C SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known missense c.1452 p.E484D 0.003 pfam_ZIP pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 tier1 - - 42 0 0.00 6 41 87.23 SLC4A4 0 genome.wustl.edu 37 4 72222742 72222742 + Missense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 72222742 72222742 C A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.568 p.Q190K 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 52 0 0.00 38 2 5.00 SLC8A2 0 genome.wustl.edu 37 19 47969480 47969480 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 47969480 47969480 C T SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.181 p.D61N 0.843 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 tier1 - - 22 0 0.00 3 12 80.00 SLFN12 0 genome.wustl.edu 37 17 33749083 33749083 + Nonsense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 33749083 33749083 C T SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known nonsense c.965 p.W322* 0.046 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 tier1 - - 45 0 0.00 22 46 67.65 SMAD4 0 genome.wustl.edu 37 18 48591854 48591854 + Missense_Mutation SNP T T A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 18 48591854 48591854 T A SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1017 p.F339L 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,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 SMAD4 HGNC ENSG00000141646 tier1 - - 68 0 0.00 5 20 80.00 SMAD4 0 genome.wustl.edu 37 18 48604654 48604656 + In_Frame_Del DEL TGA TGA - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 18 48604654 48604656 TGA - DEL SMAD4 ENST00000342988 human ensembl 74_37 +1 known in_frame_del c.1476_1478 p.D494in_frame_del 0.988:1.000:1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,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 SMAD4 HGNC ENSG00000141646 tier1 58 0 0.00 6 17 73.91 SNRNP200 0 genome.wustl.edu 37 2 96947598 96947598 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 96947598 96947598 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known silent c.4978 p.L1660 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 tier1 - - 43 0 0.00 41 14 25.45 SNX11 0 genome.wustl.edu 37 17 46190696 46190696 + Missense_Mutation SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 46190696 46190696 T C SNP SNX11 ENST00000359238 human ensembl 74_37 +1 known missense c.163 p.C55R 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC ENSG00000002919 tier1 - - 46 0 0.00 74 5 6.33 SOBP 0 genome.wustl.edu 37 6 107955278 107955278 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 107955278 107955278 C T SNP SOBP ENST00000317357 human ensembl 74_37 +1 known silent c.1230 p.P410 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 tier1 - - 40 0 0.00 12 12 50.00 SOX17 0 genome.wustl.edu 37 8 55372161 55372161 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 8 55372161 55372161 C T SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.851 p.P284L 0.971 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 tier1 rs200451706 - 12 0 0.00 11 12 52.17 SPATA31E1 0 genome.wustl.edu 37 9 90503384 90503384 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 90503384 90503384 G T SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.3982 p.V1328L 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 tier1 - - 34 0 0.00 25 4 13.79 SPEF2 0 genome.wustl.edu 37 5 35646850 35646850 + Missense_Mutation SNP A A C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 5 35646850 35646850 A C SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.667 p.N223H 0.828 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 35 0 0.00 4 6 60.00 SPO11 0 genome.wustl.edu 37 20 55908291 55908291 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 20 55908291 55908291 G T SNP SPO11 ENST00000371263 human ensembl 74_37 +1 known missense c.293 p.R98I 0.996 prints_Meiotic_Spo11 pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC ENSG00000054796 tier1 - - 66 0 0.00 68 4 5.56 SSFA2 0 genome.wustl.edu 37 2 182780039 182780039 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 2 182780039 182780039 G A SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known missense c.1672 p.A558T 0.353 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 tier1 - - 44 0 0.00 33 4 10.81 SSPO 0 genome.wustl.edu 37 7 149516919 149516920 + RNA INS - - C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 149516919 149516920 - C INS SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.464:0.462 - - - no_errors SSPO HGNC ENSG00000197558 tier1 67 0 0.00 72 58 44.62 STAT5B 0 genome.wustl.edu 37 17 40354821 40354821 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 17 40354821 40354821 C T SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known missense c.2083 p.A695T 1.000 smart_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 tier1 - - 61 0 0.00 60 54 46.96 SUGP2 0 genome.wustl.edu 37 19 19130025 19130025 + Silent SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 19130025 19130025 T C SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known silent c.1743 p.R581 1.000 superfamily_Surp pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 51 0 0.00 53 3 5.36 SVOPL 0 genome.wustl.edu 37 7 138279224 138279224 + RNA SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 138279224 138279224 C T SNP SVOPL ENST00000463557 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors SVOPL HGNC ENSG00000157703 tier1 - - 42 0 0.00 24 23 48.94 TADA1 0 genome.wustl.edu 37 1 166826666 166826666 + RNA SNP A A C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 166826666 166826666 A C SNP TADA1 ENST00000467021 human ensembl 74_37 -1 known rna NULL NULL 0.818 - - - no_errors TADA1 HGNC ENSG00000152382 tier1 - - 18 0 0.00 6 14 70.00 TADA2B 0 genome.wustl.edu 37 4 7055827 7055827 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 7055827 7055827 C T SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known silent c.309 p.P103 0.447 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 tier1 - - 64 0 0.00 22 21 48.84 TARDBP 0 genome.wustl.edu 37 1 11084334 11084334 + RNA DEL T T - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 11084334 11084334 T - DEL TARDBP ENST00000480464 human ensembl 74_37 +1 known rna NULL NULL 0.289 - - - no_errors TARDBP HGNC ENSG00000120948 tier1 16 0 0.00 7 7 50.00 TARSL2 0 genome.wustl.edu 37 15 102263299 102263299 + Missense_Mutation SNP G G C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 102263299 102263299 G C SNP TARSL2 ENST00000335968 human ensembl 74_37 -1 known missense c.366 p.S122R 0.004 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 tier1 - - 61 0 0.00 73 4 5.19 TAS2R3 0 genome.wustl.edu 37 7 141464471 141464471 + Missense_Mutation SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 7 141464471 141464471 C A SNP TAS2R3 ENST00000247879 human ensembl 74_37 +1 known missense c.513 p.F171L 0.003 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 tier1 - - 47 0 0.00 53 18 25.35 TBL1X 0 genome.wustl.edu 37 X 9622336 9622336 + Missense_Mutation SNP T T C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c X 9622336 9622336 T C SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known missense c.185 p.L62P 0.997 pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 47 0 0.00 61 4 6.15 TLL1 0 genome.wustl.edu 37 4 166915537 166915537 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 166915537 166915537 G T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.366 p.L122F 0.997 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,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 66 0 0.00 29 10 25.64 TMC3 0 genome.wustl.edu 37 15 81638719 81638719 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 81638719 81638719 C T SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.1259 p.S420N 1.000 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 tier1 - - 34 0 0.00 68 4 5.56 TMEM144 0 genome.wustl.edu 37 4 159133982 159133983 + Frame_Shift_Ins INS - - T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 159133982 159133983 - T INS TMEM144 ENST00000509278 human ensembl 74_37 +1 putative frame_shift_ins c.163_164 p.W57fs 0.000:0.000 NULL pfam_DUF1632_TMEM144 - no_errors TMEM144 HGNC ENSG00000164124 tier1 40 0 0.00 37 2 5.13 TMEM63B 0 genome.wustl.edu 37 6 44108077 44108077 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 44108077 44108077 C T SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.691 p.R231C 1.000 NULL pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 41 0 0.00 45 3 6.25 TMPRSS13 0 genome.wustl.edu 37 11 117779198 117779198 + Missense_Mutation SNP G G C TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 11 117779198 117779198 G C SNP TMPRSS13 ENST00000526090 human ensembl 74_37 -1 known missense c.1411 p.L471V 0.000 smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS13 HGNC ENSG00000137747 tier1 - - 46 0 0.00 3 29 90.62 TNFAIP8L3 0 genome.wustl.edu 37 15 51350297 51350297 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 15 51350297 51350297 G A SNP TNFAIP8L3 ENST00000327536 human ensembl 74_37 -1 known silent c.660 p.N220 0.251 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L3 HGNC ENSG00000183578 tier1 - - 22 0 0.00 16 24 60.00 TNFRSF11B 0 genome.wustl.edu 37 8 119945384 119945384 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 8 119945384 119945384 G A SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known silent c.186 p.C62 0.001 pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 53 0 0.00 41 3 6.82 TRANK1 0 genome.wustl.edu 37 3 36874533 36874533 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 36874533 36874533 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.6409 p.R2137W 0.013 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 48 0 0.00 47 4 7.84 TRIM42 0 genome.wustl.edu 37 3 140407024 140407024 + Silent SNP A A G TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 140407024 140407024 A G SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known silent c.1500 p.S500 0.233 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 34 0 0.00 19 10 34.48 TRMT13 0 genome.wustl.edu 37 1 100606480 100606480 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 100606480 100606480 G A SNP TRMT13 ENST00000370141 human ensembl 74_37 +1 known missense c.574 p.G192R 1.000 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 tier1 - - 39 0 0.00 25 22 46.81 TSTD2 0 genome.wustl.edu 37 9 100367120 100367120 + Nonsense_Mutation SNP T T A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 100367120 100367120 T A SNP TSTD2 ENST00000341170 human ensembl 74_37 -1 known nonsense c.1141 p.K381* 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 tier1 - - 33 0 0.00 27 3 10.00 TTLL11 0 genome.wustl.edu 37 9 124855629 124855629 + Silent SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 124855629 124855629 G T SNP TTLL11 ENST00000321582 human ensembl 74_37 -1 known silent c.69 p.L23 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL11 HGNC ENSG00000175764 14 0 0.00 12 2 14.29 TXNDC5 0 genome.wustl.edu 37 6 8026623 8026623 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 8026623 8026623 G T SNP TXNDC5 ENST00000539054 human ensembl 74_37 -1 known missense c.24 p.N8K 0.998 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 tier1 - - 54 0 0.00 60 4 6.25 U2AF1 0 genome.wustl.edu 37 21 44513332 44513332 + Silent SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 21 44513332 44513332 C T SNP U2AF1 ENST00000291552 human ensembl 74_37 -1 known silent c.603 p.E201 0.999 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC ENSG00000160201 tier1 - - 82 0 0.00 5 55 91.67 UNC13A 0 genome.wustl.edu 37 19 17738353 17738353 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 17738353 17738353 G A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known silent c.4149 p.N1383 0.996 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 22 0 0.00 18 2 10.00 UNC5C 0 genome.wustl.edu 37 4 96091308 96091308 + Missense_Mutation SNP T T A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 4 96091308 96091308 T A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.2627 p.D876V 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 tier1 - - 65 0 0.00 28 20 40.82 UPK1A-AS1 0 genome.wustl.edu 37 19 36159273 36159273 + RNA SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 36159273 36159273 G A SNP UPK1A-AS1 ENST00000443196 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors UPK1A-AS1 HGNC ENSG00000226510 tier1 - - 43 0 0.00 22 13 37.14 VILL 0 genome.wustl.edu 37 3 38035810 38035810 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 38035810 38035810 G T SNP VILL ENST00000283713 human ensembl 74_37 +1 known missense c.194 p.G65V 0.995 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 32 0 0.00 45 4 8.16 YTHDF2 0 genome.wustl.edu 37 1 29069108 29069108 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 29069108 29069108 G A SNP YTHDF2 ENST00000373812 human ensembl 74_37 +1 known missense c.326 p.G109E 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 tier1 - - 65 0 0.00 49 4 7.55 ZBP1 0 genome.wustl.edu 37 20 56179776 56179776 + Silent SNP A A T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 20 56179776 56179776 A T SNP ZBP1 ENST00000371173 human ensembl 74_37 -1 known silent c.1143 p.I381 0.000 NULL pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 54 0 0.00 70 4 5.41 ZBTB22 0 genome.wustl.edu 37 6 33284640 33284640 + Silent SNP C C A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 33284640 33284640 C A SNP ZBTB22 ENST00000418724 human ensembl 74_37 -1 known silent c.54 p.S18 0.138 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 tier1 - - 26 0 0.00 28 5 15.15 ZC3H13 0 genome.wustl.edu 37 13 46562991 46562991 + Nonsense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 13 46562991 46562991 G A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known nonsense c.1186 p.R396* 0.994 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 - - 60 0 0.00 41 13 23.64 ZFHX2 0 genome.wustl.edu 37 14 23993643 23993643 + Silent SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 14 23993643 23993643 G A SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known silent c.5508 p.D1836 0.189 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 tier1 - - 26 0 0.00 12 19 61.29 ZIC4 0 genome.wustl.edu 37 3 147105323 147105323 + RNA DEL T T - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 3 147105323 147105323 T - DEL ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 35 0 0.00 20 9 31.03 ZKSCAN3 0 genome.wustl.edu 37 6 28334042 28334042 + Frame_Shift_Del DEL A A - TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 6 28334042 28334042 A - DEL ZKSCAN3 ENST00000252211 human ensembl 74_37 +1 known frame_shift_del c.1597 p.N534fs 0.206 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 tier1 30 0 0.00 26 2 7.14 ZMYM6 0 genome.wustl.edu 37 1 35484911 35484912 + Frame_Shift_Ins INS - - A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 1 35484911 35484912 - A INS ZMYM6 ENST00000317538 human ensembl 74_37 -1 novel frame_shift_ins c.471_470 p.L157fs 0.005:0.001 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 tier1 53 0 0.00 34 4 10.53 ZNF423 0 genome.wustl.edu 37 16 49670811 49670811 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 49670811 49670811 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.2252 p.R751H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 rs143285873 - 23 0 0.00 7 7 50.00 ZNF462 0 genome.wustl.edu 37 9 109691105 109691105 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 9 109691105 109691105 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.4912 p.E1638K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 tier1 - - 28 0 0.00 19 5 20.83 ZNF567 0 genome.wustl.edu 37 19 37211466 37211466 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 37211466 37211466 G A SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known missense c.1840 p.E614K 0.996 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 ZNF567 HGNC ENSG00000189042 tier1 - - 46 0 0.00 2 43 95.56 ZNF628 0 genome.wustl.edu 37 19 55992629 55992629 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 55992629 55992629 G T SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.69 p.E23D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 tier1 - - 55 0 0.00 14 25 64.10 ZNF850 0 genome.wustl.edu 37 19 37241190 37241190 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 19 37241190 37241190 C T SNP ZNF850 ENST00000591344 human ensembl 74_37 -1 known missense c.752 p.R251K 0.319 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 ZNF850 HGNC ENSG00000267041 tier1 - - 71 0 0.00 23 23 50.00 ZSCAN10 0 genome.wustl.edu 37 16 3139484 3139484 + Missense_Mutation SNP G G A TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 587f25b3-3dcd-4457-8960-99e298297900 2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c 16 3139484 3139484 G A SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known missense c.1786 p.R596C 0.966 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 tier1 - - 33 0 0.00 10 11 52.38