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 COL11A1 0 genome.wustl.edu 37 1 103573701 103573701 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 103573701 103573701 G A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.34 p.R12W 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 COL11A1 HGNC ENSG00000060718 46 0 0 32 10 23.8095 CASZ1 0 genome.wustl.edu 37 1 10725422 10725422 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 10725422 10725422 G T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.223 p.R75 0.732 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 82 0 0 66 21 24.1379 NTNG1 0 genome.wustl.edu 37 1 107867123 107867123 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 107867123 107867123 C T SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.466 p.R156C 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 92 0 0 70 20 22.2222 GPR61 0 genome.wustl.edu 37 1 110086062 110086062 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 110086062 110086062 C T SNP GPR61 ENST00000404129 human ensembl 74_37 +1 known missense c.418 p.R140C 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 119 1 0.833333 118 20 14.4928 GSTM5 0 genome.wustl.edu 37 1 110254920 110254920 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 110254920 110254920 G A SNP GSTM5 ENST00000429410 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GSTM5 HGNC ENSG00000134201 225 0 0 124 37 22.9814 RBM15 0 genome.wustl.edu 37 1 110883440 110883440 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 110883440 110883440 G A SNP RBM15 ENST00000369784 human ensembl 74_37 +1 known silent c.1413 p.L471 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 122 0 0 81 22 21.3592 ENSG00000226849 0 genome.wustl.edu 37 1 11130899 11130899 + RNA SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 11130899 11130899 C A SNP ENSG00000226849 ENST00000452378 human ensembl 74_37 +1 known rna NULL NULL 0.032 - - - no_errors RP4-635E18.7 Clone_based_vega_gene ENSG00000226849 83 0 0 67 27 28.7234 WARS2 0 genome.wustl.edu 37 1 119575715 119575715 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 119575715 119575715 C T SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.902 p.R301H 0.088 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 157 0 0 104 24 18.75 TNFRSF8 0 genome.wustl.edu 37 1 12144597 12144597 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 12144597 12144597 G A SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known missense c.140 p.R47H 1.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 99 0 0 43 14 24.5614 GLTPD1 0 genome.wustl.edu 37 1 1262734 1262734 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 1262734 1262734 T C SNP GLTPD1 ENST00000343938 human ensembl 74_37 +1 known missense c.236 p.L79P 1.000 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom - no_errors GLTPD1 HGNC ENSG00000224051 30 0 0 13 2 13.3333 FMO5 0 genome.wustl.edu 37 1 146696723 146696723 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 146696723 146696723 G A SNP FMO5 ENST00000465173 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FMO5 HGNC ENSG00000131781 28 0 0 24 7 22.5806 SF3B4 0 genome.wustl.edu 37 1 149898777 149898777 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 149898777 149898777 T C SNP SF3B4 ENST00000271628 human ensembl 74_37 -1 known missense c.197 p.D66G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 61 0 0 48 9 15.7895 PRPF3 0 genome.wustl.edu 37 1 150325478 150325478 + RNA SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 150325478 150325478 T G SNP PRPF3 ENST00000467329 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors PRPF3 HGNC ENSG00000117360 137 0 0 101 18 15.1261 CGN 0 genome.wustl.edu 37 1 151495931 151495931 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 151495931 151495931 T C SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.1162 p.S388P 0.055 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 148 0 0 109 18 14.1732 OAZ3 0 genome.wustl.edu 37 1 151739707 151739707 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 151739707 151739707 C A SNP OAZ3 ENST00000315067 human ensembl 74_37 +1 known missense c.100 p.L34I 0.982 pfam_ODC_AZ pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ3 HGNC ENSG00000143450 134 0 0 69 27 28.125 TCHH 0 genome.wustl.edu 37 1 152081372 152081372 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 152081372 152081372 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.4321 p.R1441C 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 219 0 0 145 43 22.8723 FLG 0 genome.wustl.edu 37 1 152281136 152281136 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 152281136 152281136 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6226 p.A2076T 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 644 0 0 419 84 16.6998 SPRR3 0 genome.wustl.edu 37 1 152975993 152975993 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 152975993 152975993 C T SNP SPRR3 ENST00000295367 human ensembl 74_37 +1 known missense c.497 p.T166I 1.000 pfam_Cornifin pfam_Cornifin - no_errors SPRR3 HGNC ENSG00000163209 36 0 0 31 10 24.3902 NPR1 0 genome.wustl.edu 37 1 153657486 153657486 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 153657486 153657486 C T SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.1531 p.R511C 1.000 smart_Tyr_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 93 0 0 57 12 17.3913 ASH1L 0 genome.wustl.edu 37 1 155448115 155448115 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 155448115 155448115 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.4546 p.R1516C 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 90 0 0 61 22 26.506 UBQLN4 0 genome.wustl.edu 37 1 156020124 156020124 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 156020124 156020124 A G SNP UBQLN4 ENST00000368309 human ensembl 74_37 -1 known silent c.699 p.P233 0.002 superfamily_ARM-type_fold,smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 174 0 0 107 24 18.3206 PAQR6 0 genome.wustl.edu 37 1 156214507 156214507 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 156214507 156214507 C T SNP PAQR6 ENST00000335852 human ensembl 74_37 -1 known missense c.487 p.A163T 0.000 NULL pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 46 0 0 33 14 29.7872 RRNAD1 0 genome.wustl.edu 37 1 156706280 156706280 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 156706280 156706280 C T SNP RRNAD1 ENST00000481920 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RRNAD1 HGNC ENSG00000143303 28 0 0 17 9 34.6154 ARHGEF11 0 genome.wustl.edu 37 1 156931470 156931470 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 156931470 156931470 G A SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.1238 p.A413V 1.000 pfam_RGS-like_dom,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 69 0 0 57 18 24 MMP23B 0 genome.wustl.edu 37 1 1569945 1569945 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 1569945 1569945 C T SNP MMP23B ENST00000356026 human ensembl 74_37 +1 known missense c.1117 p.R373C 0.995 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 48 0 0 36 7 16.2791 FCRL5 0 genome.wustl.edu 37 1 157488559 157488559 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 157488559 157488559 A G SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.2674 p.S892P 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 30 0 0 17 5 22.7273 FCRL1 0 genome.wustl.edu 37 1 157767978 157767978 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 157767978 157767978 C A SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known missense c.1087 p.G363W 0.000 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 50 0 0 23 6 20.6897 OR6Y1 0 genome.wustl.edu 37 1 158517426 158517426 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 158517426 158517426 C T SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.470 p.G157E 0.912 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 43 0 0 28 11 28.2051 OR6K2 0 genome.wustl.edu 37 1 158669761 158669761 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 158669761 158669761 G A SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known missense c.682 p.R228C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 114 0 0 72 25 25.7732 IFI16 0 genome.wustl.edu 37 1 159021772 159021772 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 159021772 159021772 C T SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known nonsense c.1969 p.R657* 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 84 0 0 62 22 26.1905 AGMAT 0 genome.wustl.edu 37 1 15909876 15909876 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 15909876 15909876 C T SNP AGMAT ENST00000375826 human ensembl 74_37 -1 known missense c.287 p.R96H 1.000 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 29 0 0 27 3 10 KCNJ10 0 genome.wustl.edu 37 1 160012305 160012305 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 160012305 160012305 C A SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known missense c.18 p.K6N 1.000 prints_K_chnl_inward-rec_Kir1.2 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 64 0 0 41 17 29.3103 ATP1A4 0 genome.wustl.edu 37 1 160125856 160125856 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 160125856 160125856 T C SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known missense c.433 p.S145P 0.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 71 0 0 47 15 24.1935 PLEKHM2 0 genome.wustl.edu 37 1 16053855 16053855 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 16053855 16053855 G A SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.1288 p.A430T 0.000 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 15 0 0 12 5 29.4118 ADAMTS4 0 genome.wustl.edu 37 1 161161324 161161324 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 161161324 161161324 G A SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known silent c.2118 p.P706 0.152 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 81 0 0 77 16 17.2043 OLFML2B 0 genome.wustl.edu 37 1 161967829 161967829 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 161967829 161967829 A C SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known silent c.1260 p.T420 0.990 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 84 0 0 74 23 23.7113 ARHGEF19 0 genome.wustl.edu 37 1 16524955 16524955 + RNA SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 16524955 16524955 C A SNP ARHGEF19 ENST00000478117 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors ARHGEF19 HGNC ENSG00000142632 28 0 0 16 7 30.4348 CROCCP2 0 genome.wustl.edu 37 1 16945655 16945655 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 16945655 16945655 T C SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CROCCP2 HGNC ENSG00000215908 370 1 0.269542 291 19 6.12903 F5 0 genome.wustl.edu 37 1 169513570 169513570 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 169513570 169513570 G A SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.1939 p.R647C 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 64 0 0 47 4 7.84314 MROH9 0 genome.wustl.edu 37 1 170967433 170967433 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 170967433 170967433 T C SNP MROH9 ENST00000367758 human ensembl 74_37 +1 known silent c.1614 p.C538 0.001 NULL superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 91 0 0 91 9 9 DARS2 0 genome.wustl.edu 37 1 173807354 173807354 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 173807354 173807354 G A SNP DARS2 ENST00000361951 human ensembl 74_37 +1 known missense c.797 p.R266Q 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA,superfamily_GAD_dom,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt - no_errors DARS2 HGNC ENSG00000117593 42 0 0 34 7 17.0732 PADI4 0 genome.wustl.edu 37 1 17682614 17682614 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 17682614 17682614 G A SNP PADI4 ENST00000375448 human ensembl 74_37 +1 known missense c.1447 p.D483N 0.997 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 48 0 0 37 10 21.2766 ZNF648 0 genome.wustl.edu 37 1 182025570 182025570 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 182025570 182025570 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.1576 p.H526Y 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 33 0 0 27 8 22.8571 LAMC1 0 genome.wustl.edu 37 1 183090856 183090856 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 183090856 183090856 A G SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known splice_site c.1991-2 e12-2 1.000 - - - no_errors LAMC1 HGNC ENSG00000135862 40 0 0 22 6 21.4286 HMCN1 0 genome.wustl.edu 37 1 185834899 185834899 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 185834899 185834899 T C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.525 p.C175 1.000 NULL 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 38 0 0 36 6 14.2857 HMCN1 0 genome.wustl.edu 37 1 185963965 185963965 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 185963965 185963965 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.3524 p.R1175H 0.993 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 76 0 0 46 21 31.3433 UBR4 0 genome.wustl.edu 37 1 19500110 19500110 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 19500110 19500110 G T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.2988 p.A996 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 40 0 0 23 10 30.303 PQLC2 0 genome.wustl.edu 37 1 19653763 19653763 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 19653763 19653763 G A SNP PQLC2 ENST00000375153 human ensembl 74_37 +1 known missense c.661 p.A221T 0.925 smart_CTNS superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 87 0 0 38 18 32.1429 CFH 0 genome.wustl.edu 37 1 196658606 196658606 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 196658606 196658606 C T SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1021 p.R341C 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 74 0 0 73 14 16.092 ASPM 0 genome.wustl.edu 37 1 197074096 197074096 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 197074096 197074096 A G SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.4285 p.S1429P 0.084 superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 56 0 0 40 11 21.5686 CRB1 0 genome.wustl.edu 37 1 197390635 197390635 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 197390635 197390635 C A SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.1677 p.S559 0.885 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 138 0 0 118 26 18.0556 KIF21B 0 genome.wustl.edu 37 1 200944729 200944729 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 200944729 200944729 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known silent c.4512 p.Y1504 0.798 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 76 0 0 44 14 24.1379 NAV1 0 genome.wustl.edu 37 1 201781709 201781709 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 201781709 201781709 G A SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.5141 p.R1714Q 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 216 0 0 111 36 24.4898 IPO9 0 genome.wustl.edu 37 1 201827606 201827606 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 201827606 201827606 C T SNP IPO9 ENST00000361565 human ensembl 74_37 +1 known missense c.1253 p.A418V 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 198 0 0 113 32 22.069 PTPN7 0 genome.wustl.edu 37 1 202119538 202119538 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 202119538 202119538 C T SNP PTPN7 ENST00000309017 human ensembl 74_37 -1 known missense c.1205 p.R402Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 24 0 0 11 5 31.25 PPP1R12B 0 genome.wustl.edu 37 1 202544209 202544209 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 202544209 202544209 G A SNP PPP1R12B ENST00000367270 human ensembl 74_37 +1 known missense c.620 p.R207Q 1.000 NULL NULL - no_errors PPP1R12B HGNC ENSG00000077157 128 0 0 66 35 34.6535 KLHL12 0 genome.wustl.edu 37 1 202880242 202880242 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 202880242 202880242 T C SNP KLHL12 ENST00000435533 human ensembl 74_37 -1 known silent c.771 p.L257 0.366 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 KLHL12 HGNC ENSG00000117153 174 0 0 115 37 24.3421 MYOG 0 genome.wustl.edu 37 1 203054644 203054644 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 203054644 203054644 C T SNP MYOG ENST00000241651 human ensembl 74_37 -1 known missense c.446 p.R149Q 0.112 superfamily_bHLH_dom pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOG HGNC ENSG00000122180 50 0 0 31 10 24.3902 PRELP 0 genome.wustl.edu 37 1 203455842 203455842 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 203455842 203455842 G A SNP PRELP ENST00000343110 human ensembl 74_37 +1 known missense c.982 p.G328R 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 74 0 0 61 16 20.7792 LINC00303 0 genome.wustl.edu 37 1 204006598 204006598 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 204006598 204006598 C T SNP LINC00303 ENST00000367207 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00303 HGNC ENSG00000176754 112 0 0 59 13 18.0556 PLA2G2F 0 genome.wustl.edu 37 1 20471085 20471085 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 20471085 20471085 C A SNP PLA2G2F ENST00000375102 human ensembl 74_37 +1 known silent c.327 p.A109 1.000 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2F HGNC ENSG00000158786 24 0 0 15 4 21.0526 MFSD4 0 genome.wustl.edu 37 1 205567013 205567013 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 205567013 205567013 T C SNP MFSD4 ENST00000471425 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MFSD4 HGNC ENSG00000174514 106 0 0 66 25 27.4725 CD34 0 genome.wustl.edu 37 1 208073210 208073210 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 208073210 208073210 T C SNP CD34 ENST00000310833 human ensembl 74_37 -1 known missense c.218 p.H73R 0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 137 0 0 100 41 29.078 PLXNA2 0 genome.wustl.edu 37 1 208391092 208391092 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 208391092 208391092 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.176 p.T59M 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,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 PLXNA2 HGNC ENSG00000076356 161 0 0 120 19 13.6691 KCNH1 0 genome.wustl.edu 37 1 210948744 210948744 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 210948744 210948744 G T SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known silent c.2058 p.A686 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 48 0 0 39 11 22 RCOR3 0 genome.wustl.edu 37 1 211447588 211447588 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 211447588 211447588 G A SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known missense c.164 p.G55D 1.000 pfscan_ELM2_dom pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 31 0 0 23 11 32.3529 RCOR3 0 genome.wustl.edu 37 1 211469067 211469067 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 211469067 211469067 G A SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known missense c.815 p.G272D 1.000 superfamily_Homeodomain-like pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 61 0 0 52 16 23.5294 PTPN14 0 genome.wustl.edu 37 1 214557534 214557534 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 214557534 214557534 G A SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.1664 p.T555M 0.195 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 108 0 0 85 32 27.3504 NBPF3 0 genome.wustl.edu 37 1 21771652 21771652 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 21771652 21771652 G A SNP NBPF3 ENST00000318249 human ensembl 74_37 +1 known missense c.73 p.G25S 0.000 NULL pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 52 0 0 47 8 14.5455 HHIPL2 0 genome.wustl.edu 37 1 222713546 222713546 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 222713546 222713546 C T SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known missense c.1256 p.R419K 0.994 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 96 0 0 74 18 19.5652 DISP1 0 genome.wustl.edu 37 1 223177682 223177682 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 223177682 223177682 C T SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel silent c.2943 p.S981 0.001 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 78 0 0 51 19 27.1429 CAPN2 0 genome.wustl.edu 37 1 223947077 223947077 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 223947077 223947077 T C SNP CAPN2 ENST00000295006 human ensembl 74_37 +1 known missense c.1423 p.F475L 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 92 0 0 58 22 27.5 LBR 0 genome.wustl.edu 37 1 225592337 225592337 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 225592337 225592337 T C SNP LBR ENST00000272163 human ensembl 74_37 -1 known missense c.1555 p.K519E 0.056 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 32 0 0 34 9 20.9302 LIN9 0 genome.wustl.edu 37 1 226420811 226420811 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 226420811 226420811 G A SNP LIN9 ENST00000328205 human ensembl 74_37 -1 known silent c.1557 p.D519 1.000 NULL pfam_LIN-9/ALY1 - no_errors LIN9 HGNC ENSG00000183814 66 0 0 50 16 24.2424 OBSCN 0 genome.wustl.edu 37 1 228437869 228437869 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 228437869 228437869 T C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.4237 p.C1413R 0.763 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 149 0 0 103 23 18.254 EPHA8 0 genome.wustl.edu 37 1 22924273 22924273 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 22924273 22924273 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.2035 p.R679W 0.999 pirsf_Tyr_kinase_ephrin_rcpt,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 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 147 0 0 85 12 12.3711 TAF5L 0 genome.wustl.edu 37 1 229738170 229738170 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 229738170 229738170 G A SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known silent c.744 p.R248 0.001 NULL pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 91 0 0 64 17 20.9877 URB2 0 genome.wustl.edu 37 1 229771402 229771402 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 229771402 229771402 C A SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.1042 p.L348M 0.029 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 87 0 0 55 18 24.6575 HEATR1 0 genome.wustl.edu 37 1 236760162 236760162 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 236760162 236760162 C T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.718 p.A240T 0.974 pfam_U3snoRNP10,superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 131 0 0 102 26 20.3125 RYR2 0 genome.wustl.edu 37 1 237957196 237957196 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 237957196 237957196 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.13830 p.K4610N 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 20 0 0 21 3 12.5 FMN2 0 genome.wustl.edu 37 1 240371409 240371409 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 240371409 240371409 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.3297 p.P1099 0.158 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 44 0 0 22 5 18.5185 FMN2 0 genome.wustl.edu 37 1 240601495 240601495 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 240601495 240601495 T G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.5045 p.L1682R 1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 102 0 0 68 20 22.7273 MYOM3 0 genome.wustl.edu 37 1 24392644 24392644 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 24392644 24392644 T G SNP MYOM3 ENST00000338909 human ensembl 74_37 -1 novel missense c.55 p.T19P 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 10 0 0 6 2 25 ZBTB18 0 genome.wustl.edu 37 1 244218133 244218133 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 244218133 244218133 C T SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.1057 p.R353C 1.000 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 ZBTB18 HGNC ENSG00000179456 58 0 0 48 14 22.5806 PANK4 0 genome.wustl.edu 37 1 2453056 2453056 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 2453056 2453056 C T SNP PANK4 ENST00000502770 human ensembl 74_37 -1 known missense c.449 p.R150Q 0.000 NULL NULL - no_errors PANK4 HGNC ENSG00000157881 57 0 0 54 13 19.403 KIF26B 0 genome.wustl.edu 37 1 245704240 245704240 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 245704240 245704240 G T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.1338 p.P446 0.928 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 45 0 0 33 9 21.4286 OR14K1 0 genome.wustl.edu 37 1 247902448 247902448 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 247902448 247902448 G A SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.532 p.D178N 0.961 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 218 0 0 164 55 25.1142 OR2T2 0 genome.wustl.edu 37 1 248616103 248616103 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 248616103 248616103 G A SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.5 p.G2D 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 110 0 0 70 9 11.3924 TNFRSF14 0 genome.wustl.edu 37 1 2493265 2493265 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 2493265 2493265 G A SNP TNFRSF14 ENST00000480305 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TNFRSF14 HGNC ENSG00000157873 133 0 0 81 14 14.7368 EXTL1 0 genome.wustl.edu 37 1 26349804 26349804 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 26349804 26349804 G A SNP EXTL1 ENST00000374280 human ensembl 74_37 +1 known missense c.667 p.G223R 0.012 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 26 0 0 12 5 29.4118 DHDDS 0 genome.wustl.edu 37 1 26795565 26795565 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 26795565 26795565 G T SNP DHDDS ENST00000360009 human ensembl 74_37 +1 known missense c.948 p.Q316H 1.000 NULL pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like - no_errors DHDDS HGNC ENSG00000117682 107 0 0 64 19 22.8916 RPS6KA1 0 genome.wustl.edu 37 1 26898685 26898685 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 26898685 26898685 C T SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known silent c.1875 p.N625 0.985 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 94 0 0 53 16 23.1884 C1orf172 0 genome.wustl.edu 37 1 27278809 27278809 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 27278809 27278809 C T SNP C1orf172 ENST00000320567 human ensembl 74_37 -1 known silent c.63 p.R21 0.060 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 80 0 0 55 17 23.6111 WDTC1 0 genome.wustl.edu 37 1 27624505 27624505 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 27624505 27624505 A G SNP WDTC1 ENST00000319394 human ensembl 74_37 +1 known missense c.1135 p.T379A 1.000 superfamily_WD40_repeat_dom,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 97 0 0 57 11 16.1765 FGR 0 genome.wustl.edu 37 1 27939440 27939440 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 27939440 27939440 G A SNP FGR ENST00000374003 human ensembl 74_37 -1 known silent c.1575 p.P525 0.190 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FGR HGNC ENSG00000000938 33 0 0 36 9 20 IFI6 0 genome.wustl.edu 37 1 27994875 27994875 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 27994875 27994875 C T SNP IFI6 ENST00000339145 human ensembl 74_37 -1 known missense c.184 p.A62T 0.000 pfam_IFI6/IFI27 pfam_IFI6/IFI27 - no_errors IFI6 HGNC ENSG00000126709 10 0 0 3 3 50 PEF1 0 genome.wustl.edu 37 1 32096220 32096220 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 32096220 32096220 C T SNP PEF1 ENST00000373703 human ensembl 74_37 -1 known missense c.849 p.M283I 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors PEF1 HGNC ENSG00000162517 35 0 0 24 5 17.2414 KIAA1522 0 genome.wustl.edu 37 1 33235610 33235610 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 33235610 33235610 C T SNP KIAA1522 ENST00000401073 human ensembl 74_37 +1 known missense c.830 p.A277V 0.353 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 35 0 0 33 7 17.5 KIAA1522 0 genome.wustl.edu 37 1 33236271 33236271 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 33236271 33236271 T C SNP KIAA1522 ENST00000401073 human ensembl 74_37 +1 known silent c.1491 p.P497 0.865 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 27 0 0 19 7 26.9231 PRDM16 0 genome.wustl.edu 37 1 3328750 3328750 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 3328750 3328750 C T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.1989 p.A663 0.235 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 97 0 0 57 18 24 ADC 0 genome.wustl.edu 37 1 33547940 33547940 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 33547940 33547940 C A SNP ADC ENST00000373441 human ensembl 74_37 +1 known silent c.90 p.A30 0.998 NULL pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ADC HGNC ENSG00000142920 27 0 0 21 8 27.5862 TRIM62 0 genome.wustl.edu 37 1 33613029 33613029 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 33613029 33613029 C T SNP TRIM62 ENST00000291416 human ensembl 74_37 -1 known missense c.1177 p.D393N 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 88 0 0 59 18 23.3766 CSMD2 0 genome.wustl.edu 37 1 34401390 34401390 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 34401390 34401390 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.683 p.T228M 0.998 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 CSMD2 HGNC ENSG00000121904 83 0 0 48 14 22.5806 GJB4 0 genome.wustl.edu 37 1 35227549 35227549 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 35227549 35227549 G A SNP GJB4 ENST00000339480 human ensembl 74_37 +1 known missense c.694 p.D232N 0.003 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303 - no_errors GJB4 HGNC ENSG00000189433 69 0 0 48 5 9.43396 GJA4 0 genome.wustl.edu 37 1 35260154 35260154 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 35260154 35260154 C T SNP GJA4 ENST00000342280 human ensembl 74_37 +1 known missense c.340 p.R114W 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 52 0 0 24 12 33.3333 AGO1 0 genome.wustl.edu 37 1 36379454 36379454 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 36379454 36379454 C T SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.1594 p.R532C 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 102 0 0 56 20 26.3158 ZC3H12A 0 genome.wustl.edu 37 1 37948615 37948615 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 37948615 37948615 A G SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known silent c.1203 p.S401 0.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 28 0 0 18 5 21.7391 POU3F1 0 genome.wustl.edu 37 1 38511579 38511579 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 38511579 38511579 C T SNP POU3F1 ENST00000373012 human ensembl 74_37 -1 known silent c.837 p.A279 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F1 HGNC ENSG00000185668 94 0 0 52 11 17.4603 NT5C1A 0 genome.wustl.edu 37 1 40137681 40137681 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 40137681 40137681 C T SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known silent c.30 p.Q10 0.921 NULL pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 58 0 0 41 8 16.3265 TRIT1 0 genome.wustl.edu 37 1 40309784 40309784 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 40309784 40309784 C T SNP TRIT1 ENST00000316891 human ensembl 74_37 -1 known missense c.1223 p.R408H 0.979 pfam_Znf_C2H2_jaz,smart_Znf_U1 pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,superfamily_P-loop_NTPase,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase - no_errors TRIT1 HGNC ENSG00000043514 73 0 0 53 19 26.3889 TIE1 0 genome.wustl.edu 37 1 43777469 43777469 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 43777469 43777469 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known silent c.1461 p.Q487 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 92 0 0 50 14 21.875 RNF220 0 genome.wustl.edu 37 1 44877961 44877961 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 44877961 44877961 C T SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known silent c.192 p.N64 0.956 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 387 1 0.257732 266 77 22.449 RNF220 0 genome.wustl.edu 37 1 45111136 45111136 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 45111136 45111136 C T SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known missense c.1421 p.T474I 1.000 superfamily_Peptidase_M20_dimer superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 50 0 0 28 11 28.2051 TOE1 0 genome.wustl.edu 37 1 45808309 45808309 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 45808309 45808309 G A SNP TOE1 ENST00000372090 human ensembl 74_37 +1 known missense c.746 p.R249Q 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom - no_errors TOE1 HGNC ENSG00000132773 237 0 0 162 50 23.5849 LRRC41 0 genome.wustl.edu 37 1 46745205 46745205 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 46745205 46745205 T C SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.2102 p.N701S 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 193 0 0 105 31 22.7941 TAL1 0 genome.wustl.edu 37 1 47691535 47691535 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 47691535 47691535 G A SNP TAL1 ENST00000371883 human ensembl 74_37 -1 known missense c.26 p.A9V 0.975 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL1 HGNC ENSG00000162367 41 0 0 30 3 9.09091 ZFYVE9 0 genome.wustl.edu 37 1 52803538 52803538 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 52803538 52803538 G A SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known silent c.3765 p.A1255 0.010 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 54 0 0 56 12 17.6471 PRPF38A 0 genome.wustl.edu 37 1 52881019 52881019 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 52881019 52881019 G A SNP PRPF38A ENST00000257181 human ensembl 74_37 +1 known missense c.857 p.R286H 1.000 NULL pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 45 0 0 37 9 19.5652 ACOT11 0 genome.wustl.edu 37 1 55065021 55065021 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 55065021 55065021 C T SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known nonsense c.817 p.R273* 1.000 pfam_Thioestr_supf pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 196 0 0 109 38 25.8503 BSND 0 genome.wustl.edu 37 1 55472881 55472881 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 55472881 55472881 G A SNP BSND ENST00000371265 human ensembl 74_37 +1 known missense c.484 p.V162M 0.667 NULL NULL - no_errors BSND HGNC ENSG00000162399 110 0 0 56 29 34.1176 C8B 0 genome.wustl.edu 37 1 57406539 57406539 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 57406539 57406539 C A SNP C8B ENST00000371237 human ensembl 74_37 -1 known missense c.1381 p.A461S 1.000 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 80 0 0 42 9 17.6471 CHD5 0 genome.wustl.edu 37 1 6188120 6188120 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 6188120 6188120 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.3889 p.E1297K 1.000 pfam_DUF1087 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 21 0 0 14 4 22.2222 INADL 0 genome.wustl.edu 37 1 62257034 62257034 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 62257034 62257034 T C SNP INADL ENST00000371158 human ensembl 74_37 +1 known silent c.1083 p.F361 0.999 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 46 0 0 40 14 25.9259 INADL 0 genome.wustl.edu 37 1 62594546 62594546 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 62594546 62594546 C T SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.5200 p.P1734S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 136 0 0 83 23 21.6981 JAK1 0 genome.wustl.edu 37 1 65301079 65301079 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 65301079 65301079 C A SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.3369 p.E1123D 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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 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,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 95 0 0 70 4 5.40541 PLEKHG5 0 genome.wustl.edu 37 1 6534150 6534150 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 6534150 6534150 G A SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known silent c.751 p.L251 0.988 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 31 0 0 17 8 32 IL23R 0 genome.wustl.edu 37 1 67666539 67666539 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 67666539 67666539 T C SNP IL23R ENST00000347310 human ensembl 74_37 +1 known missense c.611 p.M204T 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 88 0 0 81 26 24.2991 LRRC7 0 genome.wustl.edu 37 1 70509673 70509673 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 70509673 70509673 A G SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.3892 p.M1298V 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 80 0 0 63 25 28.4091 ELTD1 0 genome.wustl.edu 37 1 79403534 79403534 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 79403534 79403534 A C SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.718 p.F240V 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 141 0 0 113 33 22.6027 RERE 0 genome.wustl.edu 37 1 8422883 8422883 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 8422883 8422883 G A SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.1762 p.R588W 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 79 0 0 51 12 19.0476 RERE 0 genome.wustl.edu 37 1 8482843 8482843 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 8482843 8482843 G A SNP RERE ENST00000337907 human ensembl 74_37 -1 known nonsense c.1228 p.Q410* 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 69 0 0 51 14 21.5385 SAMD11 0 genome.wustl.edu 37 1 879297 879297 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 879297 879297 C T SNP SAMD11 ENST00000342066 human ensembl 74_37 +1 known missense c.1810 p.R604C 1.000 superfamily_SAM/pointed,smart_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD11 HGNC ENSG00000187634 70 0 0 74 5 6.32911 PKN2 0 genome.wustl.edu 37 1 89206691 89206691 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 89206691 89206691 G A SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known silent c.69 p.P23 0.997 superfamily_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 59 0 0 62 15 19.4805 FNBP1L 0 genome.wustl.edu 37 1 94016562 94016562 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 94016562 94016562 G T SNP FNBP1L ENST00000271234 human ensembl 74_37 +1 known missense c.1710 p.E570D 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1L HGNC ENSG00000137942 36 0 0 15 10 40 AGRN 0 genome.wustl.edu 37 1 978625 978625 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 978625 978625 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.1391 p.A464V 0.544 NULL pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 17 0 0 14 3 17.6471 CLSTN1 0 genome.wustl.edu 37 1 9804642 9804642 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 9804642 9804642 T C SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known missense c.1045 p.M349V 0.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 34 0 0 27 10 27.027 AGRN 0 genome.wustl.edu 37 1 981392 981392 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 981392 981392 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.2729 p.A910V 0.853 smart_FacI_MAC,smart_Fol_N,smart_EG-like_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 78 0 0 48 14 22.5806 LPPR4 0 genome.wustl.edu 37 1 99771804 99771804 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 99771804 99771804 C T SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known silent c.1530 p.P510 0.284 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 306 1 0.325733 172 44 20.3704 CPN1 0 genome.wustl.edu 37 10 101841263 101841263 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 101841263 101841263 G A SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known silent c.120 p.N40 0.997 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 70 0 0 42 10 19.2308 SEC31B 0 genome.wustl.edu 37 10 102255254 102255254 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 102255254 102255254 G A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.2360 p.A787V 0.052 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 29 0 0 21 8 27.5862 LZTS2 0 genome.wustl.edu 37 10 102763509 102763509 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 102763509 102763509 C T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known silent c.654 p.S218 0.033 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 253 0 0 205 51 19.9219 FBXW4 0 genome.wustl.edu 37 10 103371071 103371071 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 103371071 103371071 C T SNP FBXW4 ENST00000331272 human ensembl 74_37 -1 known missense c.1216 p.V406I 0.277 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW4 HGNC ENSG00000107829 83 0 0 43 17 28.3333 SH3PXD2A 0 genome.wustl.edu 37 10 105362558 105362558 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 105362558 105362558 G A SNP SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known missense c.2417 p.T806M 0.871 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 229 0 0 196 43 17.9916 COL17A1 0 genome.wustl.edu 37 10 105799276 105799276 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 105799276 105799276 C A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.2823 p.G941 0.006 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 77 0 0 64 17 20.9877 ADD3 0 genome.wustl.edu 37 10 111893357 111893357 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 111893357 111893357 A G SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known missense c.2102 p.K701R 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 90 0 0 113 7 5.83333 MXI1 0 genome.wustl.edu 37 10 111987987 111987987 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 111987987 111987987 G A SNP MXI1 ENST00000332674 human ensembl 74_37 +1 known silent c.315 p.P105 0.416 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXI1 HGNC ENSG00000119950 55 0 0 54 19 26.0274 MIR548E 0 genome.wustl.edu 37 10 112748709 112748709 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 112748709 112748709 G A SNP MIR548E ENST00000408287 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR548E HGNC ENSG00000221214 19 0 0 23 4 14.8148 TECTB 0 genome.wustl.edu 37 10 114045827 114045827 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 114045827 114045827 A G SNP TECTB ENST00000369422 human ensembl 74_37 +1 known splice_site c.268-2 e3-2 1.000 - - - no_errors TECTB HGNC ENSG00000119913 132 0 0 110 23 17.2932 NRAP 0 genome.wustl.edu 37 10 115365607 115365607 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 115365607 115365607 G A SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.3853 p.R1285C 0.997 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 325 0 0 349 57 14.0394 NRAP 0 genome.wustl.edu 37 10 115365959 115365959 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 115365959 115365959 G A SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.3809 p.T1270M 0.003 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 63 0 0 61 9 12.8571 NHLRC2 0 genome.wustl.edu 37 10 115661633 115661633 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 115661633 115661633 G A SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known missense c.1348 p.V450I 0.440 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 158 0 0 155 30 16.2162 ABLIM1 0 genome.wustl.edu 37 10 116198969 116198969 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 116198969 116198969 C T SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.2108 p.R703Q 1.000 superfamily_Villin_headpiece pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 70 0 0 65 15 18.75 HSPA12A 0 genome.wustl.edu 37 10 118441370 118441370 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 118441370 118441370 C T SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.854 p.R285H 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 68 0 0 51 4 7.27273 KCNK18 0 genome.wustl.edu 37 10 118960782 118960782 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 118960782 118960782 G A SNP KCNK18 ENST00000334549 human ensembl 74_37 +1 known silent c.336 p.T112 0.018 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 110 0 0 103 13 11.2069 PDZD8 0 genome.wustl.edu 37 10 119043937 119043937 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 119043937 119043937 G A SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known silent c.2307 p.T769 0.847 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 79 0 0 70 19 21.3483 BAG3 0 genome.wustl.edu 37 10 121429488 121429488 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 121429488 121429488 C T SNP BAG3 ENST00000369085 human ensembl 74_37 +1 known silent c.306 p.G102 0.000 NULL pfam_BAG_domain,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_dom - no_errors BAG3 HGNC ENSG00000151929 221 0 0 181 34 15.814 SEC23IP 0 genome.wustl.edu 37 10 121663641 121663641 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 121663641 121663641 G A SNP SEC23IP ENST00000369075 human ensembl 74_37 +1 known missense c.953 p.R318H 1.000 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 102 0 0 82 15 15.4639 FGFR2 0 genome.wustl.edu 37 10 123274774 123274774 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 123274774 123274774 A G SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.1147 p.C383R 1.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 99 0 0 99 15 13.1579 TACC2 0 genome.wustl.edu 37 10 123970676 123970676 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 123970676 123970676 A G SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.6736 p.T2246A 0.976 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 73 0 0 55 9 14.0625 DMBT1 0 genome.wustl.edu 37 10 124358347 124358347 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 124358347 124358347 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.3014 p.R1005Q 0.999 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 566 1 0.176367 494 89 15.2659 FAM53B 0 genome.wustl.edu 37 10 126370548 126370548 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 126370548 126370548 G T SNP FAM53B ENST00000337318 human ensembl 74_37 -1 known silent c.534 p.S178 0.997 NULL NULL - no_errors FAM53B HGNC ENSG00000189319 48 0 0 51 11 17.7419 FAM53B 0 genome.wustl.edu 37 10 126370610 126370610 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 126370610 126370610 C T SNP FAM53B ENST00000337318 human ensembl 74_37 -1 known missense c.472 p.G158S 0.306 NULL NULL - no_errors FAM53B HGNC ENSG00000189319 41 0 0 51 6 10.5263 FANK1 0 genome.wustl.edu 37 10 127677260 127677260 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 127677260 127677260 G A SNP FANK1 ENST00000449042 human ensembl 74_37 +1 known missense c.314 p.R105H 0.000 NULL superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FANK1 HGNC ENSG00000203780 130 0 0 134 20 12.987 MCM10 0 genome.wustl.edu 37 10 13213015 13213015 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 13213015 13213015 G A SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.101 p.R34Q 0.087 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 224 0 0 170 38 18.2692 PWWP2B 0 genome.wustl.edu 37 10 134219688 134219688 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 134219688 134219688 A G SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known missense c.1684 p.M562V 0.971 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 100 0 0 83 21 20.1923 INPP5A 0 genome.wustl.edu 37 10 134595573 134595573 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 134595573 134595573 C T SNP INPP5A ENST00000445580 human ensembl 74_37 +1 known missense c.274 p.R92C 0.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors INPP5A HGNC ENSG00000068383 14 0 0 15 3 16.6667 KNDC1 0 genome.wustl.edu 37 10 135015094 135015094 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 135015094 135015094 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3085 p.R1029W 0.018 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 126 0 0 109 25 18.6567 CDNF 0 genome.wustl.edu 37 10 14862006 14862006 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 14862006 14862006 T C SNP CDNF ENST00000465530 human ensembl 74_37 -1 known silent c.537 p.A179 0.005 pfam_Armet_prot pfam_Armet_prot - no_errors CDNF HGNC ENSG00000185267 291 0 0 252 56 18.1818 ITGA8 0 genome.wustl.edu 37 10 15649742 15649742 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 15649742 15649742 G A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known silent c.1698 p.R566 0.001 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 184 0 0 210 36 14.6341 ENKUR 0 genome.wustl.edu 37 10 25279480 25279480 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 25279480 25279480 T C SNP ENKUR ENST00000331161 human ensembl 74_37 -1 known missense c.506 p.Q169R 1.000 NULL NULL - no_errors ENKUR HGNC ENSG00000151023 60 0 0 64 13 16.8831 YME1L1 0 genome.wustl.edu 37 10 27400933 27400933 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 27400933 27400933 A G SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known silent c.2295 p.L765 0.998 tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 123 0 0 146 26 15.1163 LRRC37A6P 0 genome.wustl.edu 37 10 27540292 27540292 + RNA SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 27540292 27540292 T A SNP LRRC37A6P ENST00000574795 human ensembl 74_37 -1 known rna NULL NULL 0.373 - - - no_errors LRRC37A6P HGNC ENSG00000230445 22 0 0 24 6 20 ZMYND11 0 genome.wustl.edu 37 10 286020 286020 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 286020 286020 C T SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known missense c.722 p.A241V 0.999 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 69 0 0 90 23 20.354 SVIL 0 genome.wustl.edu 37 10 29769643 29769643 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 29769643 29769643 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.5200 p.R1734C 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 180 1 0.552486 140 27 16.1677 KIAA1462 0 genome.wustl.edu 37 10 30315149 30315149 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 30315149 30315149 G A SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.3928 p.R1310C 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 111 0 0 93 26 21.8487 KIAA1462 0 genome.wustl.edu 37 10 30318056 30318056 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 30318056 30318056 C T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.1021 p.V341M 1.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 195 0 0 155 38 19.6891 C10orf68 0 genome.wustl.edu 37 10 33134495 33134495 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 33134495 33134495 A G SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known missense c.1382 p.Y461C 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 83 0 0 85 16 15.8416 ITGB1 0 genome.wustl.edu 37 10 33209310 33209310 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 33209310 33209310 G T SNP ITGB1 ENST00000374956 human ensembl 74_37 -1 known missense c.1132 p.L378I 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 56 0 0 61 12 16.4384 DIP2C 0 genome.wustl.edu 37 10 410451 410451 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 410451 410451 G A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known silent c.2340 p.F780 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 96 0 0 61 15 19.7368 RET 0 genome.wustl.edu 37 10 43600617 43600617 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 43600617 43600617 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known silent c.843 p.A281 0.019 pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 35 0 0 41 9 18 RET 0 genome.wustl.edu 37 10 43615133 43615133 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 43615133 43615133 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known silent c.2547 p.G849 0.803 pirsf_Tyr_kinase_Ret_rcpt,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 pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 74 0 0 65 11 14.4737 TMEM72 0 genome.wustl.edu 37 10 45430248 45430248 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 45430248 45430248 C T SNP TMEM72 ENST00000544540 human ensembl 74_37 +1 known missense c.140 p.T47I 0.990 NULL NULL - no_errors TMEM72 HGNC ENSG00000187783 238 0 0 181 42 18.8341 RASSF4 0 genome.wustl.edu 37 10 45478063 45478063 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 45478063 45478063 T C SNP RASSF4 ENST00000334940 human ensembl 74_37 +1 known missense c.179 p.V60A 0.711 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF4 HGNC ENSG00000107551 37 0 0 37 5 11.9048 ALOX5 0 genome.wustl.edu 37 10 45907734 45907734 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 45907734 45907734 T C SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.527 p.V176A 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 78 0 0 69 12 14.8148 ZFAND4 0 genome.wustl.edu 37 10 46122403 46122403 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 46122403 46122403 C T SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.868 p.E290K 0.889 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 137 0 0 126 20 13.6986 RBP3 0 genome.wustl.edu 37 10 48388658 48388658 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 48388658 48388658 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.2220 p.P740 0.000 smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 45 0 0 40 6 13.0435 GDF10 0 genome.wustl.edu 37 10 48426628 48426628 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 48426628 48426628 C T SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known missense c.1379 p.R460Q 1.000 pfam_TGF-b_C,smart_TGF-b_C,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 156 0 0 139 19 12.0253 GDF10 0 genome.wustl.edu 37 10 48429418 48429418 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 48429418 48429418 G A SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known silent c.468 p.N156 0.001 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 26 0 0 20 9 31.0345 ARHGAP22 0 genome.wustl.edu 37 10 49658392 49658392 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 49658392 49658392 G A SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known missense c.1828 p.R610C 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 12 0 0 3 3 50 C10orf71 0 genome.wustl.edu 37 10 50532147 50532147 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 50532147 50532147 C A SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known silent c.1557 p.L519 0.127 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 37 0 0 36 8 18.1818 OGDHL 0 genome.wustl.edu 37 10 50953529 50953529 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 50953529 50953529 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.1490 p.R497Q 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 73 0 0 53 13 19.697 FBXO18 0 genome.wustl.edu 37 10 5951237 5951237 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 5951237 5951237 G A SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.1153 p.D385N 0.862 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 56 0 0 67 4 5.6338 ANK3 0 genome.wustl.edu 37 10 61831926 61831926 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 61831926 61831926 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.8713 p.R2905C 1.000 NULL 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 ANK3 HGNC ENSG00000151150 59 0 0 69 14 16.8675 ANK3 0 genome.wustl.edu 37 10 61833923 61833923 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 61833923 61833923 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.6716 p.R2239H 1.000 NULL 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 ANK3 HGNC ENSG00000151150 148 0 0 151 25 14.2045 RHOBTB1 0 genome.wustl.edu 37 10 62648135 62648135 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 62648135 62648135 C T SNP RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known missense c.1291 p.V431M 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 63 0 0 58 11 15.942 PFKFB3 0 genome.wustl.edu 37 10 6274870 6274870 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 6274870 6274870 T C SNP PFKFB3 ENST00000540253 human ensembl 74_37 +1 known missense c.1570 p.S524P 0.508 NULL pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 180 0 0 146 39 21.0811 EGR2 0 genome.wustl.edu 37 10 64573473 64573473 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 64573473 64573473 C T SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known missense c.925 p.A309T 0.861 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 46 0 0 51 8 13.5593 SIRT1 0 genome.wustl.edu 37 10 69669161 69669161 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 69669161 69669161 G A SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known missense c.1319 p.G440E 1.000 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 66 0 0 104 18 14.7541 TYSND1 0 genome.wustl.edu 37 10 71905285 71905285 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 71905285 71905285 C T SNP TYSND1 ENST00000287078 human ensembl 74_37 -1 known missense c.1058 p.G353D 0.751 superfamily_Trypsin-like_Pept_dom,pirsf_Pept_S1A_Tysnd1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,pirsf_Pept_S1A_Tysnd1 - no_errors TYSND1 HGNC ENSG00000156521 11 0 0 5 3 37.5 PALD1 0 genome.wustl.edu 37 10 72300969 72300969 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 72300969 72300969 G A SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.2020 p.V674M 1.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 89 0 0 78 19 19.5876 PALD1 0 genome.wustl.edu 37 10 72324139 72324139 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 72324139 72324139 C T SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.2282 p.A761V 0.994 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 99 0 0 97 19 16.3793 PRF1 0 genome.wustl.edu 37 10 72358408 72358408 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 72358408 72358408 G A SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.1069 p.R357W 0.132 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 54 0 0 50 15 23.0769 ADAMTS14 0 genome.wustl.edu 37 10 72520166 72520166 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 72520166 72520166 G A SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.3238 p.D1080N 0.119 pfscan_PLAC pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 69 0 0 45 10 18.1818 CHST3 0 genome.wustl.edu 37 10 73767333 73767333 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 73767333 73767333 G A SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known missense c.544 p.A182T 0.889 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 20 0 0 24 3 11.1111 MCU 0 genome.wustl.edu 37 10 74645550 74645550 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 74645550 74645550 G A SNP MCU ENST00000373053 human ensembl 74_37 +1 known silent c.1026 p.L342 1.000 NULL pfam_Coiled-coil-dom_prot_109_C - no_errors MCU HGNC ENSG00000156026 68 0 0 68 18 20.9302 ZSWIM8 0 genome.wustl.edu 37 10 75545818 75545818 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 75545818 75545818 G T SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.182 p.G61V 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 14 0 0 9 3 25 VCL 0 genome.wustl.edu 37 10 75832550 75832550 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 75832550 75832550 C T SNP VCL ENST00000211998 human ensembl 74_37 +1 known nonsense c.562 p.R188* 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 76 0 0 70 23 24.7312 VCL 0 genome.wustl.edu 37 10 75848967 75848967 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 75848967 75848967 T C SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.1036 p.S346P 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 41 0 0 22 5 18.5185 ITIH5 0 genome.wustl.edu 37 10 7657989 7657989 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 7657989 7657989 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.895 p.V299M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 94 0 0 83 13 13.5417 DLG5 0 genome.wustl.edu 37 10 79556237 79556237 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 79556237 79556237 A C SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known silent c.5280 p.A1760 0.001 superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 80 0 0 48 11 18.6441 ZMIZ1 0 genome.wustl.edu 37 10 81067236 81067236 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 81067236 81067236 A G SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.2743 p.M915V 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 74 0 0 56 17 23.2877 NRG3 0 genome.wustl.edu 37 10 83635508 83635508 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 83635508 83635508 G A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.412 p.A138T 0.930 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 45 0 0 34 6 15 LRIT1 0 genome.wustl.edu 37 10 85994017 85994017 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 85994017 85994017 C T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known missense c.707 p.R236H 0.008 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 121 0 0 94 20 17.5439 RGR 0 genome.wustl.edu 37 10 86008679 86008679 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 86008679 86008679 C T SNP RGR ENST00000359452 human ensembl 74_37 +1 known missense c.250 p.R84C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn - no_errors RGR HGNC ENSG00000148604 70 0 0 67 18 21.1765 LDB3 0 genome.wustl.edu 37 10 88476506 88476506 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 88476506 88476506 G A SNP LDB3 ENST00000429277 human ensembl 74_37 +1 known missense c.1669 p.G557S 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 27 0 0 25 6 19.3548 ENSG00000271880 0 genome.wustl.edu 37 10 88769540 88769540 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 88769540 88769540 G A SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 118 0 0 111 10 8.26446 ENSG00000196566 0 genome.wustl.edu 37 10 89419662 89419662 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 89419662 89419662 T C SNP ENSG00000196566 ENST00000354527 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-57C13.3 Clone_based_vega_gene ENSG00000196566 13 0 0 12 6 33.3333 RNLS 0 genome.wustl.edu 37 10 90342849 90342849 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 90342849 90342849 C A SNP RNLS ENST00000331772 human ensembl 74_37 -1 known missense c.99 p.W33C 1.000 NULL pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 47 0 0 49 10 16.9492 IFIT2 0 genome.wustl.edu 37 10 91066050 91066050 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 91066050 91066050 G A SNP IFIT2 ENST00000371826 human ensembl 74_37 +1 known missense c.337 p.V113I 0.994 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 75 0 0 70 20 22.2222 BTAF1 0 genome.wustl.edu 37 10 93768864 93768864 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 93768864 93768864 G A SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known silent c.4002 p.P1334 0.253 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 84 0 0 84 21 20 KIF11 0 genome.wustl.edu 37 10 94409745 94409745 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 94409745 94409745 T C SNP KIF11 ENST00000260731 human ensembl 74_37 +1 known splice_site c.2922+2 e20+2 1.000 - - - no_errors KIF11 HGNC ENSG00000138160 35 0 0 28 8 22.2222 PLCE1 0 genome.wustl.edu 37 10 96005895 96005895 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 96005895 96005895 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.2613 p.D871 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 83 0 0 62 11 15.0685 PLCE1 0 genome.wustl.edu 37 10 96076482 96076482 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 96076482 96076482 T C SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.6311 p.M2104T 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 44 0 0 57 8 12.3077 NOC3L 0 genome.wustl.edu 37 10 96117058 96117058 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 96117058 96117058 A G SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known silent c.381 p.H127 0.321 pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 55 0 0 64 14 17.9487 HELLS 0 genome.wustl.edu 37 10 96352252 96352252 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 96352252 96352252 A G SNP HELLS ENST00000371332 human ensembl 74_37 +1 known missense c.2090 p.Y697C 0.990 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 46 0 0 50 13 20.6349 LCOR 0 genome.wustl.edu 37 10 98715288 98715288 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 98715288 98715288 T C SNP LCOR ENST00000356016 human ensembl 74_37 +1 known missense c.911 p.M304T 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCOR HGNC ENSG00000196233 57 0 0 66 21 24.1379 SLIT1 0 genome.wustl.edu 37 10 98763959 98763959 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 98763959 98763959 C A SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known missense c.3731 p.G1244V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 207 0 0 169 34 16.7488 CNTN5 0 genome.wustl.edu 37 11 100061980 100061980 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 100061980 100061980 T C SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.1703 p.V568A 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 39 0 0 34 7 17.0732 MMP3 0 genome.wustl.edu 37 11 102709964 102709964 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 102709964 102709964 G A SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.946 p.R316C 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 84 0 0 64 14 17.9487 MRVI1 0 genome.wustl.edu 37 11 10626010 10626010 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 10626010 10626010 C T SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.1658 p.R553H 1.000 pfam_MRVI1 pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 77 0 0 45 12 21.0526 EXPH5 0 genome.wustl.edu 37 11 108412488 108412488 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 108412488 108412488 A G SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known silent c.171 p.G57 0.955 pfscan_Znf_FYVE-typ superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 70 0 0 45 19 29.6875 SIK2 0 genome.wustl.edu 37 11 111594537 111594537 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 111594537 111594537 A C SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.2465 p.Q822P 0.877 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 141 0 0 68 21 23.5955 ZW10 0 genome.wustl.edu 37 11 113610032 113610032 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 113610032 113610032 C T SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known silent c.1656 p.L552 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 120 0 0 85 27 24.1071 ATF4P4 0 genome.wustl.edu 37 11 113660140 113660140 + RNA SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 113660140 113660140 C A SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 0.871 - - - no_errors ATF4P4 HGNC ENSG00000256167 51 0 0 29 10 25.641 HTR3A 0 genome.wustl.edu 37 11 113857354 113857354 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 113857354 113857354 G T SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.838 p.V280F 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 113 0 0 55 21 27.6316 ZBTB16 0 genome.wustl.edu 37 11 114027109 114027109 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 114027109 114027109 G A SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1319 p.R440Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZBTB16 HGNC ENSG00000109906 85 0 0 47 13 21.6667 CADM1 0 genome.wustl.edu 37 11 115080374 115080374 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 115080374 115080374 G T SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.998 p.P333H 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 69 0 0 52 15 22.3881 SIDT2 0 genome.wustl.edu 37 11 117063319 117063319 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 117063319 117063319 G A SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known missense c.2074 p.V692M 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 99 0 0 38 11 22.449 DSCAML1 0 genome.wustl.edu 37 11 117342716 117342716 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 117342716 117342716 A G SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.3001 p.S1001P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 80 0 0 50 18 26.4706 DSCAML1 0 genome.wustl.edu 37 11 117389198 117389198 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 117389198 117389198 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.1673 p.A558V 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 139 0 0 98 36 26.8657 DSCAML1 0 genome.wustl.edu 37 11 117651377 117651377 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 117651377 117651377 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.375 p.D125 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 132 0 0 83 18 17.8218 KMT2A 0 genome.wustl.edu 37 11 118371787 118371787 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 118371787 118371787 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.6235 p.V2079I 0.099 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 91 0 0 59 17 22.3684 PHLDB1 0 genome.wustl.edu 37 11 118498952 118498952 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 118498952 118498952 G A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known silent c.1413 p.P471 0.024 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 127 0 0 82 24 22.6415 BCL9L 0 genome.wustl.edu 37 11 118770197 118770197 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 118770197 118770197 T C SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.3427 p.S1143G 0.839 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 21 0 0 8 3 27.2727 HYOU1 0 genome.wustl.edu 37 11 118919830 118919830 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 118919830 118919830 T G SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.1892 p.E631A 0.081 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 47 0 0 38 8 17.3913 C2CD2L 0 genome.wustl.edu 37 11 118982019 118982019 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 118982019 118982019 T C SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.845 p.I282T 0.041 superfamily_C2_dom superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 256 0 0 148 44 22.9167 USP47 0 genome.wustl.edu 37 11 11954637 11954637 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 11954637 11954637 C T SNP USP47 ENST00000399455 human ensembl 74_37 +1 known nonsense c.1798 p.R600* 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 30 0 0 21 6 22.2222 PVRL1 0 genome.wustl.edu 37 11 119549183 119549183 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 119549183 119549183 G A SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known silent c.372 p.C124 1.000 pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 119 0 0 56 19 25.3333 USP47 0 genome.wustl.edu 37 11 11974317 11974317 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 11974317 11974317 C T SNP USP47 ENST00000399455 human ensembl 74_37 +1 known missense c.3673 p.L1225F 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 100 0 0 121 36 22.9299 SORL1 0 genome.wustl.edu 37 11 121414327 121414327 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 121414327 121414327 C A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.1756 p.L586I 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 174 1 0.571429 103 24 18.8976 SORL1 0 genome.wustl.edu 37 11 121448077 121448077 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 121448077 121448077 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.3548 p.C1183Y 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 92 0 0 68 20 22.7273 BSX 0 genome.wustl.edu 37 11 122848370 122848370 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 122848370 122848370 G T SNP BSX ENST00000343035 human ensembl 74_37 -1 known missense c.689 p.P230Q 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 65 0 0 46 11 19.2982 GRAMD1B 0 genome.wustl.edu 37 11 123481017 123481017 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 123481017 123481017 C A SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known silent c.1461 p.T487 0.894 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 104 0 0 85 22 20.5607 OR8G5 0 genome.wustl.edu 37 11 124135000 124135000 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 124135000 124135000 C A SNP OR8G5 ENST00000524943 human ensembl 74_37 +1 known missense c.278 p.P93H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G5 HGNC ENSG00000255298 116 0 0 84 10 10.6383 FAM118B 0 genome.wustl.edu 37 11 126124235 126124235 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 126124235 126124235 C T SNP FAM118B ENST00000533050 human ensembl 74_37 +1 known silent c.603 p.S201 0.953 NULL NULL - no_errors FAM118B HGNC ENSG00000197798 114 0 0 85 31 26.7241 MUC5B 0 genome.wustl.edu 37 11 1267631 1267631 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 1267631 1267631 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.9530 p.T3177M 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 214 0 0 113 33 22.6027 TMEM45B 0 genome.wustl.edu 37 11 129725622 129725622 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 129725622 129725622 C T SNP TMEM45B ENST00000281441 human ensembl 74_37 +1 known silent c.405 p.H135 0.890 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TMEM45B HGNC ENSG00000151715 205 0 0 114 27 19.1489 ADAMTS8 0 genome.wustl.edu 37 11 130278728 130278728 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 130278728 130278728 G A SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.1858 p.R620W 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 164 0 0 102 32 23.8806 OPCML 0 genome.wustl.edu 37 11 132307169 132307169 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 132307169 132307169 G A SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.611 p.A204V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 78 0 0 49 18 26.8657 COPB1 0 genome.wustl.edu 37 11 14515947 14515947 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 14515947 14515947 T C SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.130 p.K44E 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 60 0 0 51 20 28.169 INSC 0 genome.wustl.edu 37 11 15262062 15262062 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 15262062 15262062 C T SNP INSC ENST00000379554 human ensembl 74_37 +1 known missense c.1604 p.A535V 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 22 0 0 13 7 35 SPTY2D1 0 genome.wustl.edu 37 11 18636709 18636709 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 18636709 18636709 G A SNP SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known missense c.1112 p.P371L 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 186 0 0 130 35 21.2121 IGSF22 0 genome.wustl.edu 37 11 18729360 18729360 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 18729360 18729360 G A SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.3271 p.R1091C 0.694 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 21 0 0 4 4 50 LSP1 0 genome.wustl.edu 37 11 1908789 1908789 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 1908789 1908789 C A SNP LSP1 ENST00000311604 human ensembl 74_37 +1 known missense c.1016 p.P339H 0.587 NULL pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC ENSG00000130592 61 0 0 48 5 9.43396 SCGB1C1 0 genome.wustl.edu 37 11 193728 193728 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 193728 193728 G T SNP SCGB1C1 ENST00000342878 human ensembl 74_37 +1 known missense c.72 p.E24D 0.020 pfam_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1C1 HGNC ENSG00000188076 63 0 0 53 6 10.1695 TNNT3 0 genome.wustl.edu 37 11 1950343 1950343 + RNA SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 1950343 1950343 C A SNP TNNT3 ENST00000492075 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors TNNT3 HGNC ENSG00000130595 159 0 0 85 24 22.0183 SLC6A5 0 genome.wustl.edu 37 11 20622796 20622796 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 20622796 20622796 C T SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.125 p.A42V 0.015 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 15 0 0 6 4 40 ANO5 0 genome.wustl.edu 37 11 22281077 22281077 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 22281077 22281077 G A SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.1420 p.V474I 0.002 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 75 0 0 81 25 23.5849 LGR4 0 genome.wustl.edu 37 11 27390168 27390168 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 27390168 27390168 G A SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known missense c.2102 p.T701M 0.918 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 92 0 0 75 34 31.1927 QSER1 0 genome.wustl.edu 37 11 32955335 32955335 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 32955335 32955335 G A SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.2144 p.G715D 0.511 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 109 0 0 93 12 11.4286 HIPK3 0 genome.wustl.edu 37 11 33308762 33308762 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 33308762 33308762 C T SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.802 p.R268C 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 92 0 0 85 17 16.6667 KIAA1549L 0 genome.wustl.edu 37 11 33667450 33667450 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 33667450 33667450 C T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known silent c.4755 p.Y1585 0.997 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 43 0 0 21 10 32.2581 KIAA1549L 0 genome.wustl.edu 37 11 33689437 33689437 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 33689437 33689437 A G SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.5305 p.I1769V 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 24 0 0 14 6 30 TSSC2 0 genome.wustl.edu 37 11 3429947 3429947 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 3429947 3429947 G A SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.948 - - - no_errors TSSC2 HGNC ENSG00000223756 65 0 0 39 13 25 PGAP2 0 genome.wustl.edu 37 11 3846332 3846332 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 3846332 3846332 G A SNP PGAP2 ENST00000278243 human ensembl 74_37 +1 known missense c.791 p.R264Q 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors PGAP2 HGNC ENSG00000148985 107 0 0 69 18 20.6897 ACCSL 0 genome.wustl.edu 37 11 44077743 44077743 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 44077743 44077743 C T SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known silent c.1194 p.G398 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 84 0 0 48 15 23.8095 MAPK8IP1 0 genome.wustl.edu 37 11 45924210 45924210 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 45924210 45924210 G A SNP MAPK8IP1 ENST00000241014 human ensembl 74_37 +1 known missense c.892 p.A298T 0.195 NULL pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC ENSG00000121653 34 0 0 20 8 28.5714 PHF21A 0 genome.wustl.edu 37 11 45955682 45955682 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 45955682 45955682 C T SNP PHF21A ENST00000257821 human ensembl 74_37 -1 known missense c.1883 p.G628D 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 66 0 0 49 11 18.3333 NUP160 0 genome.wustl.edu 37 11 47828676 47828676 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 47828676 47828676 G A SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.2392 p.H798Y 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 39 0 0 31 16 34.0426 OR4A16 0 genome.wustl.edu 37 11 55111357 55111357 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 55111357 55111357 T C SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known silent c.681 p.S227 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 123 0 0 76 25 24.7525 OR8H1 0 genome.wustl.edu 37 11 56057709 56057709 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 56057709 56057709 T C SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.830 p.Y277C 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 98 0 0 76 26 25.4902 OR5AR1 0 genome.wustl.edu 37 11 56431837 56431837 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 56431837 56431837 A G SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known missense c.676 p.I226V 0.700 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 138 0 0 118 27 18.6207 OR52N4 0 genome.wustl.edu 37 11 5776934 5776934 + Nonstop_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 5776934 5776934 T C SNP OR52N4 ENST00000317254 human ensembl 74_37 +1 known nonstop c.964 p.*322R 0.015 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N4 HGNC ENSG00000181074 51 0 0 47 10 17.5439 MS4A15 0 genome.wustl.edu 37 11 60531390 60531390 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 60531390 60531390 C T SNP MS4A15 ENST00000405633 human ensembl 74_37 +1 known missense c.184 p.P62S 0.311 NULL pfam_CD20-like - no_errors MS4A15 HGNC ENSG00000166961 50 0 0 31 13 29.5455 PPP1R32 0 genome.wustl.edu 37 11 61254061 61254061 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 61254061 61254061 T C SNP PPP1R32 ENST00000338608 human ensembl 74_37 +1 known silent c.813 p.N271 0.789 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 43 0 0 29 3 9.375 AHNAK 0 genome.wustl.edu 37 11 62289451 62289451 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 62289451 62289451 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.12438 p.D4146 0.116 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 198 0 0 136 34 20 SLC22A8 0 genome.wustl.edu 37 11 62760801 62760801 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 62760801 62760801 G A SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known missense c.1537 p.R513W 0.003 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 44 0 0 23 11 32.3529 C11orf84 0 genome.wustl.edu 37 11 63581229 63581229 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 63581229 63581229 A G SNP C11orf84 ENST00000294244 human ensembl 74_37 +1 known missense c.71 p.D24G 0.989 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 19 0 0 10 7 41.1765 PLCB3 0 genome.wustl.edu 37 11 64030156 64030156 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 64030156 64030156 G A SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.2231 p.G744D 1.000 pirsf_PLC-beta,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 112 0 0 102 22 17.7419 NRXN2 0 genome.wustl.edu 37 11 64427988 64427988 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 64427988 64427988 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.2205 p.Y735 0.861 superfamily_ConA-like_lec_gl_sf,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 NRXN2 HGNC ENSG00000110076 54 0 0 30 17 36.1702 TM7SF2 0 genome.wustl.edu 37 11 64883043 64883043 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 64883043 64883043 A G SNP TM7SF2 ENST00000279263 human ensembl 74_37 +1 known missense c.1069 p.M357V 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 - no_errors TM7SF2 HGNC ENSG00000149809 71 0 0 36 15 29.4118 CAPN1 0 genome.wustl.edu 37 11 64977350 64977350 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 64977350 64977350 G A SNP CAPN1 ENST00000279247 human ensembl 74_37 +1 known missense c.1825 p.E609K 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 37 0 0 30 7 18.9189 SLC22A20 0 genome.wustl.edu 37 11 65000814 65000814 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65000814 65000814 G A SNP SLC22A20 ENST00000525437 human ensembl 74_37 +1 known rna NULL NULL 0.966 - - - no_errors SLC22A20 HGNC ENSG00000197847 23 0 0 16 4 20 CDC42EP2 0 genome.wustl.edu 37 11 65088674 65088674 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65088674 65088674 C A SNP CDC42EP2 ENST00000279249 human ensembl 74_37 +1 known missense c.305 p.P102H 0.992 pirsf_Cdc42_effector_prot_2 pfam_CRIB_dom,smart_CRIB_dom,pirsf_Cdc42_effector_prot_2,pfscan_CRIB_dom - no_errors CDC42EP2 HGNC ENSG00000149798 83 0 0 54 20 27.027 TIGD3 0 genome.wustl.edu 37 11 65124297 65124297 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65124297 65124297 G A SNP TIGD3 ENST00000309880 human ensembl 74_37 +1 known missense c.1018 p.A340T 0.052 pfam_DDE_SF_endonuclease_CENPB-like pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 75 0 0 43 18 29.5082 SLC25A45 0 genome.wustl.edu 37 11 65147336 65147336 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65147336 65147336 A G SNP SLC25A45 ENST00000398802 human ensembl 74_37 -1 known splice_site c.153+2 e3+2 0.994 - - - no_errors SLC25A45 HGNC ENSG00000162241 61 0 0 34 9 20.9302 MALAT1 0 genome.wustl.edu 37 11 65273024 65273024 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65273024 65273024 T C SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 132 1 0.75188 108 35 24.4755 SCYL1 0 genome.wustl.edu 37 11 65305557 65305557 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65305557 65305557 C T SNP SCYL1 ENST00000533862 human ensembl 74_37 +1 known missense c.2114 p.T705M 0.706 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 17 0 0 7 5 41.6667 EHBP1L1 0 genome.wustl.edu 37 11 65347566 65347566 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65347566 65347566 G A SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known silent c.327 p.Q109 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 34 0 0 25 11 30.5556 EFEMP2 0 genome.wustl.edu 37 11 65638718 65638718 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65638718 65638718 C T SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known missense c.277 p.G93S 0.103 smart_EGF-like_Ca-bd_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 143 0 0 99 28 22.0472 CTSW 0 genome.wustl.edu 37 11 65650137 65650137 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65650137 65650137 C T SNP CTSW ENST00000307886 human ensembl 74_37 +1 known missense c.596 p.A199V 0.805 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 84 0 0 63 19 23.1707 CTSW 0 genome.wustl.edu 37 11 65650895 65650895 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65650895 65650895 G T SNP CTSW ENST00000307886 human ensembl 74_37 +1 known missense c.1020 p.K340N 0.990 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 138 0 0 86 31 26.4957 NPAS4 0 genome.wustl.edu 37 11 66190273 66190273 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 66190273 66190273 G A SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.559 p.V187M 0.997 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 122 0 0 74 24 24.4898 NPAS4 0 genome.wustl.edu 37 11 66190305 66190305 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 66190305 66190305 G A SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known silent c.591 p.P197 0.955 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 111 0 0 63 23 26.7442 RRP8 0 genome.wustl.edu 37 11 6622242 6622242 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 6622242 6622242 G A SNP RRP8 ENST00000254605 human ensembl 74_37 -1 known missense c.961 p.R321C 0.993 pfam_Methyltransferase-rel,pfam_Methyltransf_11 pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 116 1 0.854701 70 24 25.5319 DCHS1 0 genome.wustl.edu 37 11 6643309 6643309 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 6643309 6643309 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.9598 p.D3200N 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 46 0 0 21 5 19.2308 RHOD 0 genome.wustl.edu 37 11 66834229 66834229 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 66834229 66834229 C A SNP RHOD ENST00000308831 human ensembl 74_37 +1 known missense c.241 p.L81M 1.000 pfam_Small_GTPase,pfam_MIRO-like,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,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOD HGNC ENSG00000173156 147 0 0 113 33 22.6027 CORO1B 0 genome.wustl.edu 37 11 67208687 67208687 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 67208687 67208687 C T SNP CORO1B ENST00000341356 human ensembl 74_37 -1 known missense c.665 p.R222Q 1.000 superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 172 0 0 132 36 21.4286 PITPNM1 0 genome.wustl.edu 37 11 67265420 67265420 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 67265420 67265420 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.1750 p.G584R 0.989 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 60 0 0 27 7 20.5882 C11orf72 0 genome.wustl.edu 37 11 67372298 67372298 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 67372298 67372298 C A SNP C11orf72 ENST00000333139 human ensembl 74_37 -1 known missense c.243 p.K81N 0.004 NULL NULL - no_errors C11orf72 HGNC ENSG00000184224 52 0 0 36 11 23.4043 DHCR7 0 genome.wustl.edu 37 11 71146464 71146464 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 71146464 71146464 T C SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known missense c.1385 p.Y462C 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 97 0 0 71 14 16.4706 DHCR7 0 genome.wustl.edu 37 11 71146577 71146577 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 71146577 71146577 G A SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known silent c.1272 p.G424 0.842 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 39 0 0 43 7 14 PDE2A 0 genome.wustl.edu 37 11 72385202 72385202 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 72385202 72385202 G A SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.50 p.P17L 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 45 0 0 14 5 26.3158 FCHSD2 0 genome.wustl.edu 37 11 72695167 72695167 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 72695167 72695167 C T SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known missense c.671 p.R224H 1.000 NULL pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 28 0 0 23 8 25.8065 MOGAT2 0 genome.wustl.edu 37 11 75439929 75439929 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 75439929 75439929 C T SNP MOGAT2 ENST00000198801 human ensembl 74_37 +1 known missense c.745 p.R249W 0.000 pfam_DAGAT pfam_DAGAT - no_errors MOGAT2 HGNC ENSG00000166391 107 0 0 84 27 24.3243 B3GNT6 0 genome.wustl.edu 37 11 76750944 76750944 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 76750944 76750944 G A SNP B3GNT6 ENST00000533140 human ensembl 74_37 +1 known missense c.349 p.V117M 0.079 NULL pfam_Glyco_trans_31 - no_errors B3GNT6 HGNC ENSG00000198488 11 0 0 7 3 30 TENM4 0 genome.wustl.edu 37 11 78516393 78516393 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 78516393 78516393 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.2123 p.P708L 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 17 0 0 12 5 29.4118 HEPHL1 0 genome.wustl.edu 37 11 93808353 93808353 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 93808353 93808353 A C SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known silent c.1518 p.P506 0.971 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 30 0 0 21 5 19.2308 PIWIL4 0 genome.wustl.edu 37 11 94330984 94330984 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 94330984 94330984 G A SNP PIWIL4 ENST00000299001 human ensembl 74_37 +1 known missense c.1283 p.R428H 0.999 superfamily_RNaseH-like_dom,superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 61 0 0 41 18 30.5085 SYCP3 0 genome.wustl.edu 37 12 102128805 102128805 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 102128805 102128805 G A SNP SYCP3 ENST00000266743 human ensembl 74_37 -1 known missense c.253 p.L85F 1.000 pfam_Cor1/Xlr/Xmr pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC ENSG00000139351 46 0 0 32 7 17.9487 RAD52 0 genome.wustl.edu 37 12 1039196 1039196 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 1039196 1039196 A G SNP RAD52 ENST00000541619 human ensembl 74_37 -1 putative missense c.301 p.W101R 0.024 NULL pfam_Rad52_Rad22 - no_errors RAD52 HGNC ENSG00000002016 57 0 0 37 15 28.8462 STAB2 0 genome.wustl.edu 37 12 104109638 104109638 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 104109638 104109638 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.4583 p.A1528V 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 106 0 0 66 14 17.5 STAB2 0 genome.wustl.edu 37 12 104155138 104155138 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 104155138 104155138 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.7309 p.G2437W 1.000 superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 109 0 0 61 17 21.7949 GLT8D2 0 genome.wustl.edu 37 12 104397048 104397048 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 104397048 104397048 T C SNP GLT8D2 ENST00000360814 human ensembl 74_37 -1 known missense c.149 p.E50G 0.999 NULL pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 113 0 0 70 31 30.6931 EID3 0 genome.wustl.edu 37 12 104698567 104698567 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 104698567 104698567 G A SNP EID3 ENST00000527879 human ensembl 74_37 +1 known silent c.855 p.P285 0.000 pfam_Nse4_C pfam_Nse4_C - no_errors EID3 HGNC ENSG00000255150 80 0 0 79 27 25.4717 TXNRD1 0 genome.wustl.edu 37 12 104742171 104742171 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 104742171 104742171 G A SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.1922 p.S641N 0.830 superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 178 0 0 115 23 16.6667 NUAK1 0 genome.wustl.edu 37 12 106532331 106532331 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 106532331 106532331 A C SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.101 p.L34R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 35 0 0 12 6 33.3333 POLR3B 0 genome.wustl.edu 37 12 106831541 106831541 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 106831541 106831541 G A SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known missense c.1939 p.E647K 1.000 pfam_RNA_pol_Rpb2_5 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 30 0 0 29 6 17.1429 RFX4 0 genome.wustl.edu 37 12 107126786 107126786 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 107126786 107126786 C T SNP RFX4 ENST00000357881 human ensembl 74_37 +1 known missense c.1583 p.A528V 0.997 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 131 0 0 114 35 23.4899 SART3 0 genome.wustl.edu 37 12 108917393 108917393 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 108917393 108917393 C T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known silent c.2733 p.T911 1.000 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 109 1 0.909091 90 24 21.0526 ACACB 0 genome.wustl.edu 37 12 109577472 109577472 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 109577472 109577472 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.262 p.R88W 0.001 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 143 0 0 86 21 19.6262 KCTD10 0 genome.wustl.edu 37 12 109895795 109895795 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 109895795 109895795 A G SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known splice_site c.474+2 e4+2 1.000 - - - no_errors KCTD10 HGNC ENSG00000110906 68 0 0 53 12 18.4615 ANAPC7 0 genome.wustl.edu 37 12 110834095 110834095 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 110834095 110834095 A T SNP ANAPC7 ENST00000455511 human ensembl 74_37 -1 known missense c.366 p.N122K 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 62 0 0 48 5 9.43396 ANAPC7 0 genome.wustl.edu 37 12 110834100 110834100 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 110834100 110834100 C T SNP ANAPC7 ENST00000455511 human ensembl 74_37 -1 known missense c.361 p.G121R 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 64 0 0 47 4 7.84314 CUX2 0 genome.wustl.edu 37 12 111779753 111779753 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 111779753 111779753 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.3555 p.K1185 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 104 0 0 77 5 6.09756 CUX2 0 genome.wustl.edu 37 12 111785603 111785603 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 111785603 111785603 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.3935 p.G1312D 0.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 105 0 0 63 11 14.8649 FAM109A 0 genome.wustl.edu 37 12 111801079 111801079 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 111801079 111801079 G A SNP FAM109A ENST00000450786 human ensembl 74_37 -1 known missense c.95 p.T32M 0.165 NULL NULL - no_errors FAM109A HGNC ENSG00000198324 42 0 0 25 2 7.40741 ALDH2 0 genome.wustl.edu 37 12 112230411 112230411 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 112230411 112230411 C T SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known missense c.908 p.A303V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 26 0 0 25 2 7.40741 HECTD4 0 genome.wustl.edu 37 12 112668612 112668612 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 112668612 112668612 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.5699 p.R1900H 0.846 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 18 0 0 13 4 23.5294 RBM19 0 genome.wustl.edu 37 12 114282497 114282497 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 114282497 114282497 G A SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.2761 p.R921W 1.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 25 0 0 19 7 26.9231 RBM19 0 genome.wustl.edu 37 12 114352803 114352803 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 114352803 114352803 G T SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known silent c.2529 p.A843 0.005 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 145 0 0 88 14 13.7255 FBXW8 0 genome.wustl.edu 37 12 117423059 117423059 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 117423059 117423059 G A SNP FBXW8 ENST00000309909 human ensembl 74_37 +1 known missense c.884 p.R295H 0.964 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinonprotein_ADH-like_supfam,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 62 0 0 39 13 25 NOS1 0 genome.wustl.edu 37 12 117660596 117660596 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 117660596 117660596 T G SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3899 p.E1300A 1.000 pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 151 0 0 94 42 30.8824 KSR2 0 genome.wustl.edu 37 12 118105362 118105362 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 118105362 118105362 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.1088 p.R363H 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 19 0 0 11 8 42.1053 SRRM4 0 genome.wustl.edu 37 12 119563240 119563240 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 119563240 119563240 G A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known silent c.570 p.S190 0.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 58 0 0 33 7 17.5 OASL 0 genome.wustl.edu 37 12 121461798 121461798 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 121461798 121461798 C T SNP OASL ENST00000257570 human ensembl 74_37 -1 known missense c.1042 p.V348M 0.701 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 70 0 0 43 20 31.746 TMED2 0 genome.wustl.edu 37 12 124074934 124074934 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 124074934 124074934 C T SNP TMED2 ENST00000262225 human ensembl 74_37 +1 known missense c.419 p.A140V 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED2 HGNC ENSG00000086598 41 0 0 26 5 16.129 GPR19 0 genome.wustl.edu 37 12 12815320 12815320 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 12815320 12815320 C T SNP GPR19 ENST00000332427 human ensembl 74_37 -1 known silent c.63 p.V21 0.123 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 119 0 0 98 22 18.3333 EP400 0 genome.wustl.edu 37 12 132546710 132546710 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 132546710 132546710 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.8048 p.A2683V 0.999 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 62 0 0 43 9 17.3077 GUCY2C 0 genome.wustl.edu 37 12 14834327 14834327 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 14834327 14834327 A G SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known silent c.696 p.F232 0.766 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 58 0 0 42 17 28.8136 CAPZA3 0 genome.wustl.edu 37 12 18891439 18891439 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 18891439 18891439 C T SNP CAPZA3 ENST00000317658 human ensembl 74_37 +1 known silent c.237 p.G79 0.378 pfam_CapZ_alpha pfam_CapZ_alpha,prints_CapZ_alpha - no_errors CAPZA3 HGNC ENSG00000177938 78 0 0 91 23 20.1754 PDE3A 0 genome.wustl.edu 37 12 20522766 20522766 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 20522766 20522766 A G SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.548 p.D183G 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 25 0 0 26 3 10.3448 SLCO1B7 0 genome.wustl.edu 37 12 21176223 21176223 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 21176223 21176223 T C SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known splice_site c.727+2 e6+2 1.000 - - - no_errors SLCO1B7 HGNC ENSG00000205754 20 0 0 18 3 14.2857 ST8SIA1 0 genome.wustl.edu 37 12 22354738 22354738 + Silent SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 22354738 22354738 C G SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known silent c.819 p.L273 0.997 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 86 0 0 42 16 27.5862 CACNA1C 0 genome.wustl.edu 37 12 2705045 2705045 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 2705045 2705045 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.2669 p.R890H 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 76 0 0 53 16 23.1884 CACNA1C 0 genome.wustl.edu 37 12 2760892 2760892 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 2760892 2760892 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.4032 p.E1344D 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 50 0 0 33 6 15.3846 ERGIC2 0 genome.wustl.edu 37 12 29523049 29523049 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 29523049 29523049 A C SNP ERGIC2 ENST00000360150 human ensembl 74_37 -1 known silent c.213 p.S71 1.000 NULL pfam_Erv_C - no_errors ERGIC2 HGNC ENSG00000087502 32 0 0 33 8 19.5122 BICD1 0 genome.wustl.edu 37 12 32491898 32491898 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 32491898 32491898 A G SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.2749 p.T917A 1.000 NULL pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 93 0 0 78 8 9.30233 SLC6A13 0 genome.wustl.edu 37 12 332299 332299 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 332299 332299 G A SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known silent c.1413 p.Y471 0.983 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 48 0 0 27 8 22.8571 ALG10 0 genome.wustl.edu 37 12 34177009 34177009 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 34177009 34177009 T C SNP ALG10 ENST00000266483 human ensembl 74_37 +1 known missense c.284 p.M95T 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 226 0 0 164 37 18.408 PRICKLE1 0 genome.wustl.edu 37 12 42854130 42854130 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 42854130 42854130 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known silent c.1977 p.R659 0.397 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 79 0 0 48 11 18.6441 C12orf5 0 genome.wustl.edu 37 12 4460458 4460458 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 4460458 4460458 C T SNP C12orf5 ENST00000179259 human ensembl 74_37 +1 known missense c.296 p.A99V 0.010 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 53 0 0 60 13 17.8082 FGF23 0 genome.wustl.edu 37 12 4479890 4479890 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 4479890 4479890 G A SNP FGF23 ENST00000237837 human ensembl 74_37 -1 known silent c.375 p.D125 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 171 0 0 105 25 19.2308 ENDOU 0 genome.wustl.edu 37 12 48111940 48111940 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 48111940 48111940 C A SNP ENDOU ENST00000229003 human ensembl 74_37 -1 known missense c.93 p.E31D 0.997 NULL pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENSG00000111405 9 0 0 5 2 28.5714 TMEM106C 0 genome.wustl.edu 37 12 48361046 48361046 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 48361046 48361046 T C SNP TMEM106C ENST00000429772 human ensembl 74_37 +1 known splice_site c.656+2 e6+2 0.995 - - - no_errors TMEM106C HGNC ENSG00000134291 173 0 0 121 26 17.6871 RND1 0 genome.wustl.edu 37 12 49259519 49259519 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 49259519 49259519 A G SNP RND1 ENST00000309739 human ensembl 74_37 -1 known missense c.32 p.V11A 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Ras pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND1 HGNC ENSG00000172602 62 0 0 40 7 14.8936 KMT2D 0 genome.wustl.edu 37 12 49433919 49433919 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 49433919 49433919 G T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.7634 p.P2545H 0.615 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 28 0 0 24 11 31.4286 KCNH3 0 genome.wustl.edu 37 12 49935503 49935503 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 49935503 49935503 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.401 p.S134N 0.995 pfam_PAS_4,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 236 0 0 156 40 20.4082 FAM186B 0 genome.wustl.edu 37 12 49994341 49994341 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 49994341 49994341 G A SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known missense c.1082 p.P361L 0.002 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 192 0 0 122 29 19.2053 FMNL3 0 genome.wustl.edu 37 12 50052276 50052276 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 50052276 50052276 G A SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known missense c.554 p.S185L 1.000 superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 30 0 0 29 6 17.1429 KCNA1 0 genome.wustl.edu 37 12 5020658 5020658 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 5020658 5020658 C T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known silent c.114 p.R38 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.3 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_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 66 0 0 40 13 24.5283 KRT1 0 genome.wustl.edu 37 12 53070955 53070955 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 53070955 53070955 T C SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.1142 p.Q381R 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 113 0 0 84 25 22.9358 ITGB7 0 genome.wustl.edu 37 12 53585642 53585642 + Splice_Site SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 53585642 53585642 C T SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known splice_site c.2316+1 e13+1 1.000 - - - no_errors ITGB7 HGNC ENSG00000139626 54 0 0 31 8 20.5128 TARBP2 0 genome.wustl.edu 37 12 53898430 53898430 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 53898430 53898430 G A SNP TARBP2 ENST00000549572 human ensembl 74_37 +1 known missense c.467 p.C156Y 0.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors TARBP2 HGNC ENSG00000139546 126 0 0 68 19 21.8391 ATP5G2 0 genome.wustl.edu 37 12 54026689 54026689 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 54026689 54026689 C T SNP ATP5G2 ENST00000550241 human ensembl 74_37 -1 putative rna NULL NULL 0.995 - - - no_errors ATP5G2 HGNC ENSG00000135390 23 0 0 11 5 31.25 CBX5 0 genome.wustl.edu 37 12 54639915 54639915 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 54639915 54639915 T C SNP CBX5 ENST00000209875 human ensembl 74_37 -1 known missense c.409 p.M137V 1.000 pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX5 HGNC ENSG00000094916 119 0 0 91 42 31.5789 ITGA7 0 genome.wustl.edu 37 12 56088079 56088079 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 56088079 56088079 C T SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.2525 p.R842Q 0.005 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 201 0 0 114 22 16.1765 ERBB3 0 genome.wustl.edu 37 12 56481648 56481648 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 56481648 56481648 A G SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.683 p.H228R 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_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 ERBB3 HGNC ENSG00000065361 184 0 0 116 30 20.5479 ERBB3 0 genome.wustl.edu 37 12 56489535 56489535 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 56489535 56489535 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.2000 p.R667H 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_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 ERBB3 HGNC ENSG00000065361 104 0 0 85 29 25.4386 ANO2 0 genome.wustl.edu 37 12 5687530 5687530 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 5687530 5687530 A G SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known splice_site c.2389+2 e23+2 0.998 - - - no_errors ANO2 HGNC ENSG00000047617 54 0 0 39 6 13.3333 BAZ2A 0 genome.wustl.edu 37 12 57008967 57008967 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 57008967 57008967 G T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known silent c.567 p.S189 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 38 0 0 22 9 29.0323 ATP5B 0 genome.wustl.edu 37 12 57033768 57033768 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 57033768 57033768 A G SNP ATP5B ENST00000262030 human ensembl 74_37 -1 known missense c.1283 p.L428P 1.000 pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_F1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu - no_errors ATP5B HGNC ENSG00000110955 68 0 0 43 16 27.1186 SDR9C7 0 genome.wustl.edu 37 12 57324050 57324050 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 57324050 57324050 C T SNP SDR9C7 ENST00000293502 human ensembl 74_37 -1 known missense c.520 p.V174I 0.164 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC ENSG00000170426 165 0 0 109 22 16.7939 GPR182 0 genome.wustl.edu 37 12 57389505 57389505 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 57389505 57389505 G A SNP GPR182 ENST00000300098 human ensembl 74_37 +1 known missense c.512 p.R171Q 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR182 HGNC ENSG00000166856 90 0 0 61 15 19.7368 LRP1 0 genome.wustl.edu 37 12 57589962 57589962 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 57589962 57589962 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.8794 p.D2932N 0.998 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 83 0 0 49 14 22.2222 GLI1 0 genome.wustl.edu 37 12 57858504 57858504 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 57858504 57858504 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.242 p.R81Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 71 0 0 49 12 19.6721 GLI1 0 genome.wustl.edu 37 12 57861129 57861129 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 57861129 57861129 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.926 p.R309Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 66 0 0 31 11 26.1905 VWF 0 genome.wustl.edu 37 12 6091088 6091088 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 6091088 6091088 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.7151 p.R2384Q 0.386 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 91 0 0 52 18 25.7143 MDM1 0 genome.wustl.edu 37 12 68709980 68709980 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 68709980 68709980 C T SNP MDM1 ENST00000303145 human ensembl 74_37 -1 known silent c.1059 p.T353 0.954 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 42 0 0 25 11 30.5556 CPM 0 genome.wustl.edu 37 12 69265647 69265647 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 69265647 69265647 A G SNP CPM ENST00000338356 human ensembl 74_37 -1 known silent c.348 p.S116 0.496 pfam_Peptidase_M14,pfam_Aste_AspA,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPM HGNC ENSG00000135678 121 0 0 96 26 21.3115 CCT2 0 genome.wustl.edu 37 12 69981979 69981979 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 69981979 69981979 C T SNP CCT2 ENST00000299300 human ensembl 74_37 +1 known missense c.383 p.A128V 0.911 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 93 0 0 36 15 29.4118 LRRC23 0 genome.wustl.edu 37 12 7019089 7019089 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 7019089 7019089 G A SNP LRRC23 ENST00000007969 human ensembl 74_37 +1 known silent c.657 p.E219 0.106 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC ENSG00000010626 93 0 0 73 18 19.7802 PTPRB 0 genome.wustl.edu 37 12 70963520 70963520 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 70963520 70963520 T C SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.3569 p.Y1190C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 74 0 0 42 12 22.2222 PTPRR 0 genome.wustl.edu 37 12 71314119 71314119 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 71314119 71314119 C T SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known missense c.52 p.A18T 0.991 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 41 0 0 21 5 19.2308 TBC1D15 0 genome.wustl.edu 37 12 72315179 72315179 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 72315179 72315179 T C SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known missense c.1799 p.V600A 1.000 superfamily_Rab-GTPase-TBC_dom pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 107 0 0 82 22 21.1538 TRHDE 0 genome.wustl.edu 37 12 72666936 72666936 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 72666936 72666936 G A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.378 p.S126 0.997 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 24 0 0 22 6 21.4286 ACSM4 0 genome.wustl.edu 37 12 7476894 7476894 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 7476894 7476894 C T SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.1334 p.T445M 0.959 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 23 0 0 22 9 29.0323 KCNC2 0 genome.wustl.edu 37 12 75601285 75601285 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 75601285 75601285 C T SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.479 p.R160H 1.000 superfamily_BTB/POZ_fold 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_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 40 0 0 22 7 24.1379 E2F7 0 genome.wustl.edu 37 12 77458398 77458398 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 77458398 77458398 T C SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known silent c.18 p.L6 1.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 94 0 0 65 12 15.5844 GDF3 0 genome.wustl.edu 37 12 7842723 7842723 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 7842723 7842723 G A SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known silent c.846 p.I282 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 95 0 0 56 23 29.1139 SLC6A15 0 genome.wustl.edu 37 12 85264403 85264403 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 85264403 85264403 A G SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.1349 p.M450T 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 96 0 0 71 21 22.8261 PLXNC1 0 genome.wustl.edu 37 12 94620985 94620985 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 94620985 94620985 G T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.1954 p.G652W 0.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 73 0 0 42 8 16 HAL 0 genome.wustl.edu 37 12 96389536 96389536 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 96389536 96389536 C T SNP HAL ENST00000261208 human ensembl 74_37 -1 known silent c.153 p.A51 0.004 NULL pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 89 0 0 51 12 19.0476 TMTC4 0 genome.wustl.edu 37 13 101287360 101287360 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 101287360 101287360 C T SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.1292 p.R431H 1.000 NULL pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 35 0 0 22 7 24.1379 MYO16 0 genome.wustl.edu 37 13 109793696 109793696 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 109793696 109793696 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.5070 p.A1690 0.181 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 18 0 0 14 4 22.2222 COL4A1 0 genome.wustl.edu 37 13 110804806 110804806 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 110804806 110804806 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.4803 p.P1601 0.031 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 43 0 0 22 8 26.6667 F10 0 genome.wustl.edu 37 13 113795261 113795261 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 113795261 113795261 C T SNP F10 ENST00000375559 human ensembl 74_37 +1 known silent c.399 p.N133 0.295 pirsf_Pept_S1A_FX,smart_EG-like_dom pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 117 0 0 83 20 19.4175 PCID2 0 genome.wustl.edu 37 13 113850525 113850525 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 113850525 113850525 C T SNP PCID2 ENST00000246505 human ensembl 74_37 -1 known missense c.440 p.R147Q 0.994 NULL pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 143 0 0 108 35 24.4755 CUL4A 0 genome.wustl.edu 37 13 113900295 113900295 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 113900295 113900295 G A SNP CUL4A ENST00000375440 human ensembl 74_37 +1 known missense c.1556 p.G519D 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 44 0 0 29 11 27.5 GRTP1 0 genome.wustl.edu 37 13 113978839 113978839 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 113978839 113978839 G A SNP GRTP1 ENST00000375431 human ensembl 74_37 -1 putative silent c.975 p.R325 0.051 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors GRTP1 HGNC ENSG00000139835 14 0 0 8 5 38.4615 XPO4 0 genome.wustl.edu 37 13 21396422 21396422 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 21396422 21396422 G A SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known nonsense c.847 p.R283* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 54 0 0 49 14 22.2222 SACS 0 genome.wustl.edu 37 13 23909640 23909640 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 23909640 23909640 C A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.8375 p.R2792M 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 74 0 0 55 13 19.1176 C1QTNF9B 0 genome.wustl.edu 37 13 24465776 24465776 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 24465776 24465776 A G SNP C1QTNF9B ENST00000382137 human ensembl 74_37 -1 known silent c.654 p.D218 0.015 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9B HGNC ENSG00000205863 173 0 0 133 21 13.6364 C1QTNF9B-AS1 0 genome.wustl.edu 37 13 24895558 24895558 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 24895558 24895558 T C SNP C1QTNF9B-AS1 ENST00000422229 human ensembl 74_37 -1 known missense c.9 p.I3M 0.000 NULL NULL - no_errors AL359736.1 Clone_based_ensembl_gene ENSG00000205850 100 0 0 115 8 6.50407 ENSG00000243008 0 genome.wustl.edu 37 13 25155840 25155840 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 25155840 25155840 G A SNP ENSG00000243008 ENST00000453498 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-556N21.1 Clone_based_vega_gene ENSG00000243008 43 0 0 35 15 30 CENPJ 0 genome.wustl.edu 37 13 25466978 25466978 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 25466978 25466978 G A SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.3019 p.R1007W 1.000 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 83 0 0 65 22 25.2874 MTIF3 0 genome.wustl.edu 37 13 28014139 28014139 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 28014139 28014139 C T SNP MTIF3 ENST00000381116 human ensembl 74_37 -1 known silent c.447 p.A149 0.000 NULL pfam_Translation_initiation_fac_3_C,pfam_Translation_initiation_fac_3_N,superfamily_Translation_initiation_fac_3_C,superfamily_Translation_initiation_fac_3_N - no_errors MTIF3 HGNC ENSG00000122033 53 0 0 29 6 17.1429 FLT1 0 genome.wustl.edu 37 13 28964199 28964199 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 28964199 28964199 G A SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.1703 p.T568M 0.007 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 85 0 0 58 14 19.4444 MTUS2 0 genome.wustl.edu 37 13 30071435 30071435 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 30071435 30071435 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.3670 p.E1224K 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 31 0 0 22 11 33.3333 NBEA 0 genome.wustl.edu 37 13 36125122 36125122 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 36125122 36125122 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.6759 p.S2253 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 38 0 0 32 15 31.9149 NBEA 0 genome.wustl.edu 37 13 36229862 36229862 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 36229862 36229862 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.8275 p.I2759V 0.999 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 85 0 0 54 11 16.9231 DCLK1 0 genome.wustl.edu 37 13 36700232 36700232 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 36700232 36700232 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.43 p.R15W 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 118 0 0 54 26 32.5 SUPT20H 0 genome.wustl.edu 37 13 37606025 37606025 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 37606025 37606025 T C SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known missense c.715 p.K239E 1.000 NULL pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 68 0 0 44 14 24.1379 ENOX1 0 genome.wustl.edu 37 13 43900656 43900656 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 43900656 43900656 G A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known nonsense c.1042 p.Q348* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 68 0 0 39 15 27.7778 CAB39L 0 genome.wustl.edu 37 13 49918346 49918346 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 49918346 49918346 A G SNP CAB39L ENST00000347776 human ensembl 74_37 -1 known missense c.593 p.V198A 0.982 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 36 0 0 42 12 22.2222 NEK3 0 genome.wustl.edu 37 13 52726773 52726773 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 52726773 52726773 G A SNP NEK3 ENST00000452082 human ensembl 74_37 -1 known missense c.427 p.R143C 0.992 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_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK3 HGNC ENSG00000136098 76 0 0 61 19 23.75 THSD1 0 genome.wustl.edu 37 13 52952397 52952397 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 52952397 52952397 C T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1708 p.A570T 0.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 171 0 0 130 35 21.2121 OLFM4 0 genome.wustl.edu 37 13 53617325 53617325 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 53617325 53617325 T C SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known missense c.656 p.L219P 1.000 NULL pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 131 0 0 71 24 25.2632 PCDH17 0 genome.wustl.edu 37 13 58208476 58208476 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 58208476 58208476 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1796 p.R599H 0.996 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 63 0 0 34 14 29.1667 FBXL3 0 genome.wustl.edu 37 13 77592810 77592810 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 77592810 77592810 C T SNP FBXL3 ENST00000355619 human ensembl 74_37 -1 known silent c.396 p.S132 0.166 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom - no_errors FBXL3 HGNC ENSG00000005812 58 0 0 50 6 10.7143 MYCBP2 0 genome.wustl.edu 37 13 77625209 77625209 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 77625209 77625209 T C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.13844 p.H4615R 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 77 0 0 64 17 20.9877 SLITRK5 0 genome.wustl.edu 37 13 88330378 88330378 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 88330378 88330378 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.2735 p.R912Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 145 0 0 102 31 23.3083 SLC25A47 0 genome.wustl.edu 37 14 100795815 100795815 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 100795815 100795815 C T SNP SLC25A47 ENST00000361529 human ensembl 74_37 +1 known missense c.760 p.R254C 0.673 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,prints_Mit_carrier - no_errors SLC25A47 HGNC ENSG00000140107 91 0 0 65 17 20.7317 WDR25 0 genome.wustl.edu 37 14 100996336 100996336 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 100996336 100996336 C T SNP WDR25 ENST00000335290 human ensembl 74_37 +1 known silent c.1593 p.L531 0.027 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR25 HGNC ENSG00000176473 65 0 0 47 23 32.8571 BEGAIN 0 genome.wustl.edu 37 14 101004698 101004698 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 101004698 101004698 C T SNP BEGAIN ENST00000355173 human ensembl 74_37 -1 known missense c.1390 p.A464T 0.978 NULL superfamily_Prefoldin - no_errors BEGAIN HGNC ENSG00000183092 26 0 0 18 5 21.7391 DLK1 0 genome.wustl.edu 37 14 101198519 101198519 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 101198519 101198519 G A SNP DLK1 ENST00000341267 human ensembl 74_37 +1 known missense c.403 p.G135S 0.994 pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_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 DLK1 HGNC ENSG00000185559 75 0 0 66 17 20.4819 RCOR1 0 genome.wustl.edu 37 14 103148247 103148247 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 103148247 103148247 G A SNP RCOR1 ENST00000262241 human ensembl 74_37 +1 known missense c.377 p.R126H 1.000 pfam_ELM2_dom,pfscan_ELM2_dom pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1 - no_errors RCOR1 HGNC ENSG00000089902 40 0 0 18 13 41.9355 EXOC3L4 0 genome.wustl.edu 37 14 103568555 103568555 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 103568555 103568555 G A SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known silent c.495 p.S165 0.000 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 9 0 0 11 3 21.4286 AHNAK2 0 genome.wustl.edu 37 14 105406225 105406225 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 105406225 105406225 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.15563 p.S5188N 0.149 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 410 0 0 245 77 23.913 BRF1 0 genome.wustl.edu 37 14 105688094 105688094 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 105688094 105688094 G A SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known silent c.1206 p.G402 0.000 NULL pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 23 0 0 18 7 28 ARHGEF40 0 genome.wustl.edu 37 14 21557002 21557002 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 21557002 21557002 C T SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.4532 p.A1511V 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 104 0 0 71 12 14.4578 ACIN1 0 genome.wustl.edu 37 14 23531715 23531715 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 23531715 23531715 T C SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known silent c.3075 p.L1025 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 211 0 0 132 53 28.6486 ACIN1 0 genome.wustl.edu 37 14 23548926 23548926 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 23548926 23548926 T C SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.1792 p.S598G 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 187 0 0 122 50 29.0698 SLC22A17 0 genome.wustl.edu 37 14 23818484 23818484 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 23818484 23818484 T C SNP SLC22A17 ENST00000206544 human ensembl 74_37 -1 known missense c.523 p.M175V 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC ENSG00000092096 87 0 0 52 10 16.129 MYH6 0 genome.wustl.edu 37 14 23858084 23858084 + Nonsense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 23858084 23858084 C A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known nonsense c.4159 p.E1387* 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 83 0 0 43 17 28.3333 LRRC16B 0 genome.wustl.edu 37 14 24529859 24529859 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 24529859 24529859 G A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.2084 p.R695Q 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 82 0 0 59 12 16.9014 CPNE6 0 genome.wustl.edu 37 14 24546502 24546502 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 24546502 24546502 G A SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known missense c.1604 p.R535Q 1.000 smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 81 0 0 65 13 16.6667 TM9SF1 0 genome.wustl.edu 37 14 24659680 24659680 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 24659680 24659680 A G SNP TM9SF1 ENST00000556387 human ensembl 74_37 -1 known missense c.1960 p.C654R 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 98 0 0 77 23 23 HECTD1 0 genome.wustl.edu 37 14 31614149 31614149 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 31614149 31614149 T C SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known splice_site c.2497-2 e15-2 1.000 - - - no_errors HECTD1 HGNC ENSG00000092148 34 0 0 29 4 12.1212 BRMS1L 0 genome.wustl.edu 37 14 36302297 36302297 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 36302297 36302297 G A SNP BRMS1L ENST00000216807 human ensembl 74_37 +1 known missense c.347 p.R116H 1.000 pfam_Sds3 pfam_Sds3 - no_errors BRMS1L HGNC ENSG00000100916 17 0 0 18 10 35.7143 KLHL28 0 genome.wustl.edu 37 14 45414495 45414495 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 45414495 45414495 G A SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known missense c.637 p.R213C 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 KLHL28 HGNC ENSG00000179454 67 0 0 84 19 18.4466 FAM179B 0 genome.wustl.edu 37 14 45432458 45432458 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 45432458 45432458 C T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known silent c.834 p.S278 0.969 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 138 0 0 88 22 20 FANCM 0 genome.wustl.edu 37 14 45642325 45642325 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 45642325 45642325 C A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.2228 p.P743H 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 73 0 0 63 30 32.2581 SOS2 0 genome.wustl.edu 37 14 50597471 50597471 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 50597471 50597471 A T SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known missense c.3085 p.S1029T 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 73 0 0 42 18 30 FERMT2 0 genome.wustl.edu 37 14 53331480 53331480 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 53331480 53331480 C T SNP FERMT2 ENST00000343279 human ensembl 74_37 -1 known nonsense c.1365 p.W455* 1.000 pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 116 0 0 96 32 25 C14orf105 0 genome.wustl.edu 37 14 57949848 57949848 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 57949848 57949848 G A SNP C14orf105 ENST00000216445 human ensembl 74_37 -1 known missense c.328 p.P110S 1.000 NULL NULL - no_errors C14orf105 HGNC ENSG00000100557 64 0 0 46 18 28.125 SYT16 0 genome.wustl.edu 37 14 62567321 62567321 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 62567321 62567321 C A SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1834 p.L612M 0.844 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 29 0 0 25 16 39.0244 PPP2R5E 0 genome.wustl.edu 37 14 63851209 63851209 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 63851209 63851209 G A SNP PPP2R5E ENST00000337537 human ensembl 74_37 -1 known silent c.1155 p.P385 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 106 0 0 104 27 20.6107 MTHFD1 0 genome.wustl.edu 37 14 64896929 64896929 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 64896929 64896929 A G SNP MTHFD1 ENST00000216605 human ensembl 74_37 +1 known missense c.1292 p.Q431R 1.000 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 182 0 0 95 35 26.9231 SPTB 0 genome.wustl.edu 37 14 65289773 65289773 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 65289773 65289773 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.40 p.P14S 1.000 pirsf_Spectrin_bsu pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 145 0 0 87 5 5.43478 ARG2 0 genome.wustl.edu 37 14 68113365 68113365 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 68113365 68113365 C A SNP ARG2 ENST00000261783 human ensembl 74_37 +1 known missense c.527 p.P176Q 1.000 pfam_Ureohydrolase,tigrfam_Arginase pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG2 HGNC ENSG00000081181 73 0 0 63 9 12.5 PNMA1 0 genome.wustl.edu 37 14 74180118 74180118 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 74180118 74180118 G A SNP PNMA1 ENST00000316836 human ensembl 74_37 -1 known silent c.225 p.A75 0.599 NULL superfamily_Globin-like - no_errors PNMA1 HGNC ENSG00000176903 145 0 0 102 36 26.087 LTBP2 0 genome.wustl.edu 37 14 74975348 74975348 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 74975348 74975348 G A SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.3611 p.A1204V 0.981 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 46 0 0 42 8 16 LTBP2 0 genome.wustl.edu 37 14 75019032 75019032 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 75019032 75019032 G A SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.1257 p.P419 0.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 53 0 0 29 7 19.4444 NOXRED1 0 genome.wustl.edu 37 14 77873148 77873148 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 77873148 77873148 C T SNP NOXRED1 ENST00000380835 human ensembl 74_37 -1 known missense c.601 p.V201I 0.025 NULL NULL - no_errors NOXRED1 HGNC ENSG00000165555 54 0 0 34 9 20.9302 ALKBH1 0 genome.wustl.edu 37 14 78174225 78174225 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 78174225 78174225 T G SNP ALKBH1 ENST00000216489 human ensembl 74_37 -1 known missense c.123 p.E41D 0.954 NULL tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 84 0 0 55 23 29.4872 ADCK1 0 genome.wustl.edu 37 14 78325507 78325507 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 78325507 78325507 T C SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known missense c.308 p.L103P 1.000 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 127 0 0 79 20 20.202 NRXN3 0 genome.wustl.edu 37 14 78709917 78709917 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 78709917 78709917 C A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.481 p.L161M 1.000 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,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 33 0 0 19 9 32.1429 NRXN3 0 genome.wustl.edu 37 14 79181418 79181418 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 79181418 79181418 C T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known silent c.1974 p.D658 0.973 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 74 0 0 69 4 5.47945 FLRT2 0 genome.wustl.edu 37 14 86088697 86088697 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 86088697 86088697 G A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.839 p.R280Q 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 251 0 0 211 12 5.38117 KCNK10 0 genome.wustl.edu 37 14 88652342 88652342 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 88652342 88652342 C T SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.1169 p.R390Q 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 63 0 0 42 14 25 CALM1 0 genome.wustl.edu 37 14 90870757 90870757 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 90870757 90870757 G A SNP CALM1 ENST00000356978 human ensembl 74_37 +1 known missense c.320 p.R107H 1.000 pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors CALM1 HGNC ENSG00000198668 64 0 0 67 19 22.093 RPS6KA5 0 genome.wustl.edu 37 14 91338514 91338514 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 91338514 91338514 G A SNP RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known silent c.2313 p.H771 0.749 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II 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 96 0 0 63 23 26.7442 GOLGA5 0 genome.wustl.edu 37 14 93275769 93275769 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 93275769 93275769 C A SNP GOLGA5 ENST00000163416 human ensembl 74_37 +1 known silent c.897 p.S299 0.962 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 67 0 0 42 8 16 BTBD7 0 genome.wustl.edu 37 14 93712224 93712224 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 93712224 93712224 T C SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.2530 p.T844A 0.001 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 53 0 0 40 7 14.8936 UNC79 0 genome.wustl.edu 37 14 94007031 94007031 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 94007031 94007031 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.1378 p.A460T 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 92 0 0 70 19 21.3483 BCL11B 0 genome.wustl.edu 37 14 99642456 99642456 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 99642456 99642456 G A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known silent c.717 p.H239 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 34 0 0 23 5 17.8571 DNM1P46 0 genome.wustl.edu 37 15 100332821 100332821 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 100332821 100332821 T C SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors DNM1P46 HGNC ENSG00000182397 57 0 0 49 12 19.6721 ALDH1A3 0 genome.wustl.edu 37 15 101434257 101434257 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 101434257 101434257 C T SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known silent c.636 p.T212 0.012 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 187 1 0.531915 137 37 21.2644 DNM1P47 0 genome.wustl.edu 37 15 102292832 102292832 + RNA SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 102292832 102292832 G C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors DNM1P47 HGNC ENSG00000259660 18 0 0 11 2 15.3846 OR4N4 0 genome.wustl.edu 37 15 22382805 22382805 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 22382805 22382805 G T SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.333 p.E111D 0.034 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 243 0 0 184 28 13.2075 GOLGA8DP 0 genome.wustl.edu 37 15 22709989 22709989 + RNA SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 22709989 22709989 C G SNP GOLGA8DP ENST00000314246 human ensembl 74_37 -1 known rna NULL NULL 0.917 - - - no_errors GOLGA8DP HGNC ENSG00000185182 35 0 0 23 13 36.1111 CYFIP1 0 genome.wustl.edu 37 15 22956281 22956281 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 22956281 22956281 G A SNP CYFIP1 ENST00000435939 human ensembl 74_37 +1 known silent c.225 p.P75 0.000 NULL pfam_Cytoplasmic_FMR1-int,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 16 0 0 17 4 19.0476 CYFIP1 0 genome.wustl.edu 37 15 22956318 22956318 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 22956318 22956318 C A SNP CYFIP1 ENST00000435939 human ensembl 74_37 +1 known silent c.262 p.R88 0.000 NULL pfam_Cytoplasmic_FMR1-int,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 24 0 0 22 4 15.3846 GOLGA8S 0 genome.wustl.edu 37 15 23605430 23605430 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 23605430 23605430 C T SNP GOLGA8S ENST00000562295 human ensembl 74_37 +1 novel missense c.643 p.R215W 0.405 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 152 0 0 80 30 27.2727 NDN 0 genome.wustl.edu 37 15 23932203 23932203 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 23932203 23932203 G A SNP NDN ENST00000331837 human ensembl 74_37 -1 known silent c.162 p.A54 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 15 0 0 13 4 23.5294 SNORD116-2 0 genome.wustl.edu 37 15 25299406 25299406 + RNA SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 25299406 25299406 A G SNP SNORD116-2 ENST00000384274 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD116-2 HGNC ENSG00000207001 243 0 0 137 29 17.4699 SNHG14 0 genome.wustl.edu 37 15 25474048 25474048 + RNA SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 25474048 25474048 A G SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNHG14 HGNC ENSG00000224078 118 1 0.840336 80 25 23.8095 HERC2 0 genome.wustl.edu 37 15 28420752 28420752 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 28420752 28420752 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.9737 p.R3246Q 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 48 0 0 28 11 28.2051 HERC2 0 genome.wustl.edu 37 15 28518100 28518100 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 28518100 28518100 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.851 p.Q284R 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 75 0 0 60 17 22.0779 GOLGA8M 0 genome.wustl.edu 37 15 28953130 28953130 + Nonsense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 28953130 28953130 G C SNP GOLGA8M ENST00000340249 human ensembl 74_37 -1 known nonsense c.207 p.Y69* 0.001 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 53 0 0 35 9 20.4545 APBA2 0 genome.wustl.edu 37 15 29385352 29385352 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 29385352 29385352 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known silent c.1144 p.L382 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 89 0 0 42 16 27.5862 TRPM1 0 genome.wustl.edu 37 15 31362183 31362183 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 31362183 31362183 G A SNP TRPM1 ENST00000559179 human ensembl 74_37 -1 putative silent c.264 p.G88 0.000 NULL NULL - no_errors TRPM1 HGNC ENSG00000134160 338 0 0 225 78 25.7426 OTUD7A 0 genome.wustl.edu 37 15 31818590 31818590 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 31818590 31818590 C T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known silent c.855 p.P285 0.004 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 16 0 0 8 7 46.6667 RYR3 0 genome.wustl.edu 37 15 33954617 33954617 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 33954617 33954617 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.4886 p.Y1629C 1.000 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 40 0 0 20 3 13.0435 RYR3 0 genome.wustl.edu 37 15 34042195 34042195 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 34042195 34042195 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.8215 p.V2739M 0.533 pfam_Ryanodine_rcpt,superfamily_ARM-type_fold 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 21 0 0 15 5 25 CHRM5 0 genome.wustl.edu 37 15 34355445 34355445 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 34355445 34355445 G A SNP CHRM5 ENST00000383263 human ensembl 74_37 +1 known missense c.527 p.R176Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M5_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC ENSG00000184984 212 0 0 136 44 24.4444 FSIP1 0 genome.wustl.edu 37 15 40034091 40034091 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 40034091 40034091 A G SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known silent c.570 p.H190 0.000 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 25 0 0 24 6 20 BAHD1 0 genome.wustl.edu 37 15 40750842 40750842 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 40750842 40750842 G A SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.179 p.R60H 0.998 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 132 0 0 70 28 28.5714 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42139947 42139947 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 42139947 42139947 C T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known silent c.2928 p.D976 0.001 superfamily_Acyl_Trfase/lysoPLipase,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 77 0 0 43 16 27.1186 CDAN1 0 genome.wustl.edu 37 15 43026452 43026452 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 43026452 43026452 C T SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known missense c.1229 p.R410Q 0.014 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 105 0 0 60 18 23.0769 TGM5 0 genome.wustl.edu 37 15 43527731 43527731 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 43527731 43527731 G A SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known silent c.1650 p.H550 0.963 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 52 0 0 41 8 16.3265 CATSPER2 0 genome.wustl.edu 37 15 43931885 43931885 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 43931885 43931885 G A SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known missense c.673 p.R225C 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 219 0 0 130 55 29.7297 CATSPER2 0 genome.wustl.edu 37 15 43932533 43932533 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 43932533 43932533 C T SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known missense c.550 p.V184I 0.991 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 58 0 0 52 15 22.3881 FBN1 0 genome.wustl.edu 37 15 48760294 48760294 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 48760294 48760294 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.4588 p.R1530C 1.000 superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 67 0 0 58 17 22.6667 SECISBP2L 0 genome.wustl.edu 37 15 49284489 49284489 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 49284489 49284489 C T SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known silent c.3258 p.S1086 0.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 80 0 0 70 14 16.6667 ATP8B4 0 genome.wustl.edu 37 15 50264869 50264869 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 50264869 50264869 G T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.1153 p.Q385K 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 69 0 0 45 15 25 ATP8B4 0 genome.wustl.edu 37 15 50264870 50264870 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 50264870 50264870 C T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known silent c.1152 p.G384 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 69 0 0 47 13 21.6667 GLDN 0 genome.wustl.edu 37 15 51696612 51696612 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 51696612 51696612 G A SNP GLDN ENST00000335449 human ensembl 74_37 +1 known silent c.1317 p.A439 0.073 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 155 0 0 141 33 18.9655 FAM214A 0 genome.wustl.edu 37 15 52903829 52903829 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 52903829 52903829 G A SNP FAM214A ENST00000261844 human ensembl 74_37 -1 known missense c.347 p.A116V 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 108 0 0 80 19 19.1919 ONECUT1 0 genome.wustl.edu 37 15 53081958 53081958 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 53081958 53081958 C T SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known missense c.124 p.G42S 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 8 0 0 5 3 37.5 CCPG1 0 genome.wustl.edu 37 15 55664165 55664165 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 55664165 55664165 G A SNP CCPG1 ENST00000310958 human ensembl 74_37 -1 known missense c.532 p.R178C 0.865 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 72 0 0 64 17 20.9877 TCF12 0 genome.wustl.edu 37 15 57565390 57565390 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 57565390 57565390 A C SNP TCF12 ENST00000438423 human ensembl 74_37 +1 known missense c.1908 p.K636N 0.996 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 69 0 0 58 21 26.5823 LIPC 0 genome.wustl.edu 37 15 58840557 58840557 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 58840557 58840557 C T SNP LIPC ENST00000299022 human ensembl 74_37 +1 known silent c.837 p.H279 0.902 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC ENSG00000166035 125 0 0 61 22 26.506 FAM63B 0 genome.wustl.edu 37 15 59063818 59063818 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 59063818 59063818 T C SNP FAM63B ENST00000559228 human ensembl 74_37 +1 known missense c.224 p.V75A 0.000 NULL pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 32 0 0 33 5 13.1579 SLTM 0 genome.wustl.edu 37 15 59181683 59181683 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 59181683 59181683 C T SNP SLTM ENST00000380516 human ensembl 74_37 -1 known missense c.2150 p.R717H 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 73 0 0 58 21 26.5823 RORA 0 genome.wustl.edu 37 15 60792113 60792113 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 60792113 60792113 C T SNP RORA ENST00000261523 human ensembl 74_37 -1 known missense c.1484 p.R495Q 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 93 0 0 81 17 17.3469 VPS13C 0 genome.wustl.edu 37 15 62274697 62274697 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 62274697 62274697 A C SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.1990 p.L664V 0.992 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 63 0 0 69 13 15.8537 ENSG00000166104 0 genome.wustl.edu 37 15 62539253 62539253 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 62539253 62539253 G A SNP ENSG00000166104 ENST00000570077 human ensembl 74_37 -1 known rna NULL NULL 0.936 - - - no_errors hsa-mir-7162 miRBase ENSG00000166104 44 0 0 27 6 18.1818 TLN2 0 genome.wustl.edu 37 15 63073397 63073397 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 63073397 63073397 T C SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.5573 p.V1858A 1.000 pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 79 0 0 34 15 30.6122 SNX1 0 genome.wustl.edu 37 15 64411006 64411006 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 64411006 64411006 A G SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known missense c.419 p.E140G 1.000 superfamily_Phox pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 84 0 0 83 19 18.6275 CT62 0 genome.wustl.edu 37 15 71403497 71403497 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 71403497 71403497 C T SNP CT62 ENST00000449977 human ensembl 74_37 -1 known missense c.404 p.R135K 0.045 NULL NULL - no_errors CT62 HGNC ENSG00000225362 19 0 0 9 4 30.7692 C15orf60 0 genome.wustl.edu 37 15 73852106 73852106 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 73852106 73852106 C T SNP C15orf60 ENST00000331090 human ensembl 74_37 +1 known missense c.650 p.S217L 0.093 NULL NULL - no_errors C15orf60 HGNC ENSG00000183324 71 0 0 54 17 23.9437 NPTN 0 genome.wustl.edu 37 15 73889393 73889393 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 73889393 73889393 G A SNP NPTN ENST00000345330 human ensembl 74_37 -1 known nonsense c.409 p.R137* 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NPTN HGNC ENSG00000156642 38 0 0 25 8 24.2424 PML 0 genome.wustl.edu 37 15 74290799 74290799 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 74290799 74290799 G A SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.584 p.R195H 0.931 pfscan_Znf_B-box pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 64 0 0 35 6 14.6341 PML 0 genome.wustl.edu 37 15 74315437 74315437 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 74315437 74315437 C T SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.871 p.R291W 0.544 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 43 0 0 40 7 14.8936 ISLR2 0 genome.wustl.edu 37 15 74425314 74425314 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 74425314 74425314 C T SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known silent c.219 p.D73 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 89 0 0 62 15 19.4805 SIN3A 0 genome.wustl.edu 37 15 75676745 75676745 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 75676745 75676745 G A SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known nonsense c.3055 p.Q1019* 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 95 0 0 70 20 22.2222 LINGO1 0 genome.wustl.edu 37 15 77906695 77906695 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 77906695 77906695 C T SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known silent c.1554 p.S518 0.461 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 71 0 0 50 15 23.0769 LINGO1 0 genome.wustl.edu 37 15 77907658 77907658 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 77907658 77907658 C T SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known silent c.591 p.T197 0.996 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp 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 148 0 0 88 36 29.0323 IREB2 0 genome.wustl.edu 37 15 78777250 78777250 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 78777250 78777250 A G SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known missense c.1561 p.M521V 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 54 0 0 47 14 22.9508 IREB2 0 genome.wustl.edu 37 15 78790472 78790472 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 78790472 78790472 G A SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known missense c.2879 p.R960Q 1.000 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 68 0 0 49 10 16.9492 CTSH 0 genome.wustl.edu 37 15 79215386 79215386 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 79215386 79215386 A G SNP CTSH ENST00000220166 human ensembl 74_37 -1 known missense c.881 p.I294T 0.008 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 63 0 0 57 16 21.9178 RASGRF1 0 genome.wustl.edu 37 15 79339155 79339155 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 79339155 79339155 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.811 p.R271W 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 123 0 0 64 33 34.0206 KIAA1199 0 genome.wustl.edu 37 15 81241173 81241173 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 81241173 81241173 C T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.3994 p.R1332W 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 201 0 0 106 38 26.3889 IL16 0 genome.wustl.edu 37 15 81585075 81585075 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 81585075 81585075 G A SNP IL16 ENST00000302987 human ensembl 74_37 +1 known silent c.1599 p.P533 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 69 0 0 34 17 33.3333 IL16 0 genome.wustl.edu 37 15 81585364 81585364 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 81585364 81585364 C A SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.1888 p.P630T 0.005 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 52 0 0 37 7 15.9091 TMC3 0 genome.wustl.edu 37 15 81650593 81650593 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 81650593 81650593 C T SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.640 p.G214S 0.987 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 157 1 0.632911 101 19 15.8333 WHAMM 0 genome.wustl.edu 37 15 83499704 83499704 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 83499704 83499704 C A SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known silent c.1995 p.S665 0.000 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 62 0 0 39 15 27.7778 ADAMTSL3 0 genome.wustl.edu 37 15 84506931 84506931 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 84506931 84506931 C T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.691 p.R231W 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 73 0 0 40 12 23.0769 ACAN 0 genome.wustl.edu 37 15 89391193 89391193 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 89391193 89391193 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known silent c.1656 p.S552 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 121 0 0 79 22 21.7822 FES 0 genome.wustl.edu 37 15 91428691 91428691 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 91428691 91428691 G A SNP FES ENST00000328850 human ensembl 74_37 +1 known missense c.263 p.R88Q 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_FCH_dom,superfamily_t-SNARE,smart_FCH_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 43 0 0 23 5 17.8571 ENSG00000234719 0 genome.wustl.edu 37 16 12021520 12021520 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 12021520 12021520 C T SNP ENSG00000234719 ENST00000399147 human ensembl 74_37 -1 putative missense c.904 p.E302K 0.008 NULL NULL - no_errors RP11-166B2.1 Clone_based_vega_gene ENSG00000234719 47 0 0 32 9 21.9512 CACNA1H 0 genome.wustl.edu 37 16 1250559 1250559 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 1250559 1250559 T C SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known silent c.1107 p.I369 0.153 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 57 0 0 36 4 10 BFAR 0 genome.wustl.edu 37 16 14738200 14738200 + RNA SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 14738200 14738200 A G SNP BFAR ENST00000562121 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors BFAR HGNC ENSG00000103429 82 0 0 75 16 17.5824 NOMO1 0 genome.wustl.edu 37 16 14947412 14947412 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 14947412 14947412 A G SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.824 p.E275G 1.000 superfamily_CarboxyPept-like_regulatory pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 185 0 0 146 41 21.9251 FOPNL 0 genome.wustl.edu 37 16 15977964 15977964 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 15977964 15977964 G A SNP FOPNL ENST00000255759 human ensembl 74_37 -1 known nonsense c.127 p.R43* 0.545 NULL pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 47 0 0 43 11 20.3704 ABCC1 0 genome.wustl.edu 37 16 16205288 16205288 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 16205288 16205288 C A SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known missense c.2958 p.F986L 0.688 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 168 0 0 109 33 23.2394 MAPK8IP3 0 genome.wustl.edu 37 16 1818599 1818599 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 1818599 1818599 C T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known silent c.3861 p.G1287 0.639 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 12 0 0 10 5 33.3333 HAGH 0 genome.wustl.edu 37 16 1869196 1869196 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 1869196 1869196 G A SNP HAGH ENST00000397356 human ensembl 74_37 -1 known missense c.461 p.A154V 0.512 pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors HAGH HGNC ENSG00000063854 23 0 0 19 6 24 SMG1 0 genome.wustl.edu 37 16 18861335 18861335 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 18861335 18861335 A G SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known silent c.5397 p.H1799 0.946 superfamily_ARM-type_fold,pfscan_PIK_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 SMG1 HGNC ENSG00000157106 53 0 0 32 2 5.88235 GPRC5B 0 genome.wustl.edu 37 16 19883588 19883588 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 19883588 19883588 C T SNP GPRC5B ENST00000537135 human ensembl 74_37 -1 known missense c.658 p.A220T 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5B HGNC ENSG00000167191 102 0 0 67 4 5.6338 OTOA 0 genome.wustl.edu 37 16 21709120 21709120 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 21709120 21709120 C T SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.764 p.A255V 1.000 NULL NULL - no_errors OTOA HGNC ENSG00000155719 79 0 0 86 23 21.1009 NPIPB4 0 genome.wustl.edu 37 16 21858828 21858828 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 21858828 21858828 C T SNP NPIPB4 ENST00000415645 human ensembl 74_37 -1 known missense c.155 p.G52E 0.005 NULL NULL - no_errors NPIPB4 HGNC ENSG00000185864 73 0 0 50 9 15.2542 PDZD9 0 genome.wustl.edu 37 16 22000062 22000062 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 22000062 22000062 G A SNP PDZD9 ENST00000424898 human ensembl 74_37 -1 known nonsense c.262 p.R88* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD9 HGNC ENSG00000155714 44 0 0 31 8 20.5128 MLST8 0 genome.wustl.edu 37 16 2258659 2258659 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 2258659 2258659 G A SNP MLST8 ENST00000301724 human ensembl 74_37 +1 putative missense c.907 p.A303T 0.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MLST8 HGNC ENSG00000167965 127 0 0 55 18 24.6575 HS3ST2 0 genome.wustl.edu 37 16 22926592 22926592 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 22926592 22926592 C T SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known silent c.813 p.F271 0.998 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 206 0 0 122 46 27.381 USP31 0 genome.wustl.edu 37 16 23102071 23102071 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 23102071 23102071 C T SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.1289 p.R430K 0.996 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 48 0 0 30 9 23.0769 RBBP6 0 genome.wustl.edu 37 16 24580275 24580275 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 24580275 24580275 G A SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.2264 p.R755Q 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 89 0 0 53 13 19.697 GTF3C1 0 genome.wustl.edu 37 16 27481681 27481681 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 27481681 27481681 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.4562 p.T1521M 0.959 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 215 1 0.462963 98 22 18.3333 GTF3C1 0 genome.wustl.edu 37 16 27500951 27500951 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 27500951 27500951 G T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.3265 p.R1089S 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 24 0 0 11 5 31.25 GTF3C1 0 genome.wustl.edu 37 16 27503681 27503681 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 27503681 27503681 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.3129 p.C1043 0.766 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 104 0 0 58 16 21.6216 SRRM2 0 genome.wustl.edu 37 16 2815810 2815810 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 2815810 2815810 C T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.5281 p.R1761C 0.988 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 76 0 0 43 9 17.3077 ATXN2L 0 genome.wustl.edu 37 16 28846877 28846877 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 28846877 28846877 C T SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.2693 p.A898V 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 43 0 0 30 12 28.5714 NPIPB11 0 genome.wustl.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 29415043 29415043 G A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative silent c.81 p.H27 0.821 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 20 0 0 18 3 14.2857 FAM57B 0 genome.wustl.edu 37 16 30037004 30037004 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 30037004 30037004 T C SNP FAM57B ENST00000564806 human ensembl 74_37 -1 novel missense c.433 p.T145A 0.000 pfscan_TLC-dom pfam_TLC-dom,pfscan_TLC-dom - no_errors FAM57B HGNC ENSG00000149926 133 0 0 79 39 33.0508 PHKG2 0 genome.wustl.edu 37 16 30768336 30768336 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 30768336 30768336 G T SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known missense c.1139 p.G380V 1.000 NULL 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 154 0 0 97 17 14.9123 FUS 0 genome.wustl.edu 37 16 31196405 31196405 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 31196405 31196405 C T SNP FUS ENST00000254108 human ensembl 74_37 +1 known silent c.669 p.G223 0.710 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 22 0 0 10 5 33.3333 ENSG00000259966 0 genome.wustl.edu 37 16 32616264 32616264 + RNA SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 32616264 32616264 G T SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 63 0 0 31 6 16.2162 CREBBP 0 genome.wustl.edu 37 16 3781927 3781927 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 3781927 3781927 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known silent c.4740 p.G1580 0.037 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 124 0 0 71 21 22.8261 ADCY9 0 genome.wustl.edu 37 16 4164580 4164580 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 4164580 4164580 G A SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.864 p.H288 0.038 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 57 0 0 41 9 18 TFAP4 0 genome.wustl.edu 37 16 4311899 4311899 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 4311899 4311899 C T SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.406 p.G136S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 24 0 0 9 5 35.7143 LOC100134368 0 genome.wustl.edu 37 16 437242 437242 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 437242 437242 C T SNP LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 58 0 0 31 9 22.5 CDIP1 0 genome.wustl.edu 37 16 4563767 4563767 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 4563767 4563767 C T SNP CDIP1 ENST00000399599 human ensembl 74_37 -1 known silent c.171 p.P57 0.001 NULL pfam_LITAF,smart_LITAF - no_errors CDIP1 HGNC ENSG00000089486 78 0 0 62 22 26.1905 DNAJA2 0 genome.wustl.edu 37 16 46991017 46991017 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 46991017 46991017 C T SNP DNAJA2 ENST00000317089 human ensembl 74_37 -1 known missense c.1163 p.R388H 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA2 HGNC ENSG00000069345 382 0 0 224 84 27.2727 ABCC12 0 genome.wustl.edu 37 16 48149395 48149395 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 48149395 48149395 G A SNP ABCC12 ENST00000416054 human ensembl 74_37 -1 known missense c.1847 p.T616M 0.070 NULL pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 163 0 0 106 40 27.3973 ABCC12 0 genome.wustl.edu 37 16 48180286 48180286 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 48180286 48180286 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.50 p.R17Q 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 88 0 0 56 16 22.2222 SIAH1 0 genome.wustl.edu 37 16 48395676 48395676 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 48395676 48395676 C T SNP SIAH1 ENST00000356721 human ensembl 74_37 -1 known missense c.757 p.A253T 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH1 HGNC ENSG00000196470 65 0 0 55 14 20.2899 C16orf78 0 genome.wustl.edu 37 16 49430514 49430514 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 49430514 49430514 G T SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.575 p.S192I 0.905 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 68 0 0 36 14 28 ZNF423 0 genome.wustl.edu 37 16 49672706 49672706 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 49672706 49672706 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.357 p.I119 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 70 0 0 23 10 30.303 SEC14L5 0 genome.wustl.edu 37 16 5038280 5038280 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 5038280 5038280 C T SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known missense c.344 p.T115M 1.000 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 36 0 0 22 8 26.6667 SNX20 0 genome.wustl.edu 37 16 50707432 50707432 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 50707432 50707432 G A SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known missense c.836 p.A279V 0.003 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 65 0 0 49 6 10.9091 SNX20 0 genome.wustl.edu 37 16 50707935 50707935 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 50707935 50707935 G A SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known silent c.333 p.A111 0.002 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 68 0 0 42 14 25 IRX6 0 genome.wustl.edu 37 16 55362962 55362962 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 55362962 55362962 G A SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.1072 p.A358T 0.992 smart_Iroquois_homeo pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 99 0 0 61 12 16.4384 RSPRY1 0 genome.wustl.edu 37 16 57238591 57238591 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 57238591 57238591 C T SNP RSPRY1 ENST00000394420 human ensembl 74_37 +1 known silent c.21 p.A7 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC ENSG00000159579 286 0 0 208 64 23.5294 COQ9 0 genome.wustl.edu 37 16 57493505 57493505 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 57493505 57493505 T C SNP COQ9 ENST00000262507 human ensembl 74_37 +1 known missense c.740 p.L247P 1.000 pfam_COQ9,tigrfam_Ubiq_biosynth_COQ9 pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9 - no_errors COQ9 HGNC ENSG00000088682 128 0 0 69 19 21.5909 CCDC135 0 genome.wustl.edu 37 16 57752348 57752348 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 57752348 57752348 C T SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known silent c.1167 p.D389 0.004 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 211 0 0 142 29 16.9591 ZNF319 0 genome.wustl.edu 37 16 58031734 58031734 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 58031734 58031734 A G SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known missense c.436 p.S146P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 97 0 0 74 26 26 CMTM1 0 genome.wustl.edu 37 16 66600756 66600756 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 66600756 66600756 G A SNP CMTM1 ENST00000533953 human ensembl 74_37 +1 putative missense c.340 p.V114M 0.001 NULL NULL - no_errors CMTM1 HGNC ENSG00000089505 71 0 0 28 13 31.7073 CES4A 0 genome.wustl.edu 37 16 67034813 67034813 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 67034813 67034813 C T SNP CES4A ENST00000326686 human ensembl 74_37 +1 known silent c.456 p.Y152 0.997 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 19 0 0 17 4 19.0476 CES4A 0 genome.wustl.edu 37 16 67035233 67035233 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 67035233 67035233 G T SNP CES4A ENST00000326686 human ensembl 74_37 +1 known missense c.559 p.G187W 0.984 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 56 0 0 22 8 26.6667 LRRC29 0 genome.wustl.edu 37 16 67241525 67241525 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 67241525 67241525 G T SNP LRRC29 ENST00000341546 human ensembl 74_37 -1 known missense c.655 p.L219M 0.981 NULL smart_Leu-rich_rpt_Cys-con_subtyp - no_errors LRRC29 HGNC ENSG00000125122 56 0 0 31 8 20.5128 KCTD19 0 genome.wustl.edu 37 16 67323584 67323584 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 67323584 67323584 A C SNP KCTD19 ENST00000304372 human ensembl 74_37 -1 known missense c.2669 p.L890R 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 61 0 0 41 11 21.1538 RLTPR 0 genome.wustl.edu 37 16 67688258 67688258 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 67688258 67688258 C T SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.3245 p.A1082V 0.523 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 9 0 0 8 3 27.2727 RAB40C 0 genome.wustl.edu 37 16 677598 677598 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 677598 677598 G A SNP RAB40C ENST00000248139 human ensembl 74_37 +1 known silent c.822 p.S274 0.005 NULL 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 93 0 0 47 21 30.8824 RANBP10 0 genome.wustl.edu 37 16 67768880 67768880 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 67768880 67768880 C T SNP RANBP10 ENST00000317506 human ensembl 74_37 -1 known silent c.657 p.Q219 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 51 0 0 39 10 20.4082 NRN1L 0 genome.wustl.edu 37 16 67918831 67918831 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 67918831 67918831 T C SNP NRN1L ENST00000339176 human ensembl 74_37 +1 known missense c.25 p.C9R 0.000 NULL NULL - no_errors NRN1L HGNC ENSG00000188038 47 0 0 29 9 23.6842 DPEP2 0 genome.wustl.edu 37 16 68026858 68026858 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 68026858 68026858 C A SNP DPEP2 ENST00000393847 human ensembl 74_37 -1 known silent c.258 p.V86 0.992 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC ENSG00000167261 33 0 0 18 8 30.7692 TERF2 0 genome.wustl.edu 37 16 69391422 69391422 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 69391422 69391422 T C SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known missense c.1469 p.Q490R 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF2 HGNC ENSG00000132604 79 0 0 62 18 22.5 WWP2 0 genome.wustl.edu 37 16 69965738 69965738 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 69965738 69965738 C T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known missense c.1627 p.R543W 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 194 0 0 120 26 17.8082 HYDIN 0 genome.wustl.edu 37 16 70941283 70941283 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 70941283 70941283 T C SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.8508 p.S2836 0.998 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 23 0 0 15 5 25 MARVELD3 0 genome.wustl.edu 37 16 71674501 71674501 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 71674501 71674501 C T SNP MARVELD3 ENST00000299952 human ensembl 74_37 +1 known silent c.804 p.Y268 0.056 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 73 0 0 51 11 17.7419 ZFHX3 0 genome.wustl.edu 37 16 72821094 72821094 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 72821094 72821094 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.11081 p.T3694I 1.000 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 ZFHX3 HGNC ENSG00000140836 331 0 0 237 71 23.0519 WDR24 0 genome.wustl.edu 37 16 735450 735450 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 735450 735450 G T SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known missense c.2216 p.P739H 0.996 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 43 0 0 26 9 25.7143 ATMIN 0 genome.wustl.edu 37 16 81075980 81075980 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 81075980 81075980 A G SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known missense c.557 p.D186G 1.000 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 102 0 0 67 21 23.8636 CMIP 0 genome.wustl.edu 37 16 81735407 81735407 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 81735407 81735407 T C SNP CMIP ENST00000537098 human ensembl 74_37 +1 known splice_site c.1896+2 e16+2 1.000 - - - no_errors CMIP HGNC ENSG00000153815 114 0 0 67 20 22.9885 KLHL36 0 genome.wustl.edu 37 16 84690621 84690621 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 84690621 84690621 T C SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.208 p.Y70H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 92 0 0 65 23 26.1364 SNAI3 0 genome.wustl.edu 37 16 88744893 88744893 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 88744893 88744893 G A SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known missense c.842 p.A281V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 28 0 0 17 6 26.087 CDT1 0 genome.wustl.edu 37 16 88873791 88873791 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 88873791 88873791 G A SNP CDT1 ENST00000301019 human ensembl 74_37 +1 known missense c.1378 p.V460M 0.203 NULL pfam_CDT1_Gemini-bd-like - no_errors CDT1 HGNC ENSG00000167513 74 0 0 25 10 28.5714 USP7 0 genome.wustl.edu 37 16 9014266 9014266 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 9014266 9014266 G A SNP USP7 ENST00000344836 human ensembl 74_37 -1 known silent c.561 p.D187 1.000 pfam_MATH,superfamily_TRAF-like,pfscan_MATH pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 75 0 0 58 22 27.5 MYH3 0 genome.wustl.edu 37 17 10549160 10549160 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 10549160 10549160 G A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.1005 p.S335 0.130 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 93 0 0 55 20 26.6667 DNAH9 0 genome.wustl.edu 37 17 11827202 11827202 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 11827202 11827202 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.11821 p.V3941M 0.997 pfam_Dynein_heavy_dom 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 DNAH9 HGNC ENSG00000007174 76 0 0 54 22 28.9474 DNAH9 0 genome.wustl.edu 37 17 11872870 11872870 + RNA SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 11872870 11872870 A T SNP DNAH9 ENST00000396001 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DNAH9 HGNC ENSG00000007174 22 0 0 16 4 20 SCARF1 0 genome.wustl.edu 37 17 1538704 1538704 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 1538704 1538704 C T SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known missense c.1841 p.R614Q 0.886 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 70 0 0 51 14 21.5385 SCARF1 0 genome.wustl.edu 37 17 1543228 1543228 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 1543228 1543228 T C SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known missense c.1117 p.S373G 0.853 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 97 0 0 68 25 26.8817 CCDC144A 0 genome.wustl.edu 37 17 16665774 16665774 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 16665774 16665774 G A SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known missense c.3814 p.E1272K 0.959 pfam_DUF3496 pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 8 0 0 8 3 27.2727 RAI1 0 genome.wustl.edu 37 17 17700893 17700893 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 17700893 17700893 G A SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.4631 p.R1544Q 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 114 0 0 80 29 26.6055 RAI1 0 genome.wustl.edu 37 17 17707165 17707165 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 17707165 17707165 T C SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known splice_site c.5659+2 e2+2 1.000 - - - no_errors RAI1 HGNC ENSG00000108557 83 0 0 44 14 24.1379 RPA1 0 genome.wustl.edu 37 17 1798335 1798335 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 1798335 1798335 T C SNP RPA1 ENST00000254719 human ensembl 74_37 +1 known silent c.1692 p.N564 1.000 pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 131 0 0 117 35 23.0263 DPH1 0 genome.wustl.edu 37 17 1944878 1944878 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 1944878 1944878 G A SNP DPH1 ENST00000263083 human ensembl 74_37 +1 known missense c.1205 p.R402H 0.937 NULL pfam_DPH1/DPH2,pirsf_DPH1_eu/DPH2_arc,tigrfam_DPH1/DPH2 - no_errors DPH1 HGNC ENSG00000108963 50 0 0 22 3 12 SGSM2 0 genome.wustl.edu 37 17 2265420 2265420 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 2265420 2265420 G A SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.314 p.S105N 0.062 pfam_Run,pfscan_Run pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 105 0 0 69 22 24.1758 ENSG00000205821 0 genome.wustl.edu 37 17 2310316 2310316 + Silent SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 2310316 2310316 T A SNP ENSG00000205821 ENST00000609667 human ensembl 74_37 -1 known silent c.456 p.P152 0.858 NULL NULL - no_errors AC006435.1 Clone_based_ensembl_gene ENSG00000205821 53 0 0 45 6 11.7647 PAFAH1B1 0 genome.wustl.edu 37 17 2583573 2583573 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 2583573 2583573 T C SNP PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known missense c.1118 p.M373T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 183 0 0 127 48 27.4286 CLUH 0 genome.wustl.edu 37 17 2601379 2601379 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 2601379 2601379 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.1658 p.G553D 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 13 0 0 7 2 22.2222 TMEM97 0 genome.wustl.edu 37 17 26653775 26653775 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 26653775 26653775 C T SNP TMEM97 ENST00000226230 human ensembl 74_37 +1 known missense c.487 p.R163W 0.872 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 54 0 0 37 9 19.5652 VTN 0 genome.wustl.edu 37 17 26696686 26696686 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 26696686 26696686 G A SNP VTN ENST00000226218 human ensembl 74_37 -1 known missense c.371 p.A124V 0.000 NULL pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000109072 58 0 0 37 14 27.451 UNC119 0 genome.wustl.edu 37 17 26875065 26875065 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 26875065 26875065 C T SNP UNC119 ENST00000335765 human ensembl 74_37 -1 known missense c.389 p.R130H 1.000 pfam_GMP_PDE_delta,superfamily_Ig_E-set pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors UNC119 HGNC ENSG00000109103 58 0 0 39 12 23.5294 MYO18A 0 genome.wustl.edu 37 17 27448659 27448659 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 27448659 27448659 C T SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.1277 p.R426H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 10 0 0 8 3 27.2727 TP53I13 0 genome.wustl.edu 37 17 27898873 27898873 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 27898873 27898873 A G SNP TP53I13 ENST00000301057 human ensembl 74_37 +1 known splice_site c.313-2 e5-2 0.988 - - - no_errors TP53I13 HGNC ENSG00000167543 194 0 0 136 37 21.3873 CPD 0 genome.wustl.edu 37 17 28712232 28712232 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 28712232 28712232 C T SNP CPD ENST00000225719 human ensembl 74_37 +1 known silent c.972 p.G324 0.906 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 206 0 0 179 25 12.2549 UTP6 0 genome.wustl.edu 37 17 30192396 30192396 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 30192396 30192396 G A SNP UTP6 ENST00000261708 human ensembl 74_37 -1 known missense c.1625 p.S542F 0.986 smart_HAT pfam_U3_snoRNA_assoc-6,smart_HAT - no_errors UTP6 HGNC ENSG00000108651 52 0 0 33 12 26.6667 UNC45B 0 genome.wustl.edu 37 17 33513405 33513405 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 33513405 33513405 C A SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.2623 p.L875I 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 98 0 0 48 17 26.1538 SLC35G3 0 genome.wustl.edu 37 17 33520761 33520761 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 33520761 33520761 G C SNP SLC35G3 ENST00000297307 human ensembl 74_37 -1 known missense c.566 p.T189S 1.000 NULL pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 234 0 0 168 39 18.8406 SLFN11 0 genome.wustl.edu 37 17 33689952 33689952 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 33689952 33689952 G A SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.875 p.P292L 0.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 180 0 0 129 39 23.2143 PIGW 0 genome.wustl.edu 37 17 34893363 34893363 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 34893363 34893363 C T SNP PIGW ENST00000328396 human ensembl 74_37 +1 known missense c.413 p.A138V 0.148 pirsf_GWT1 pfam_GWT1,pirsf_GWT1 - no_errors PIGW HGNC ENSG00000184886 210 1 0.473934 145 38 20.765 GGNBP2 0 genome.wustl.edu 37 17 34942390 34942390 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 34942390 34942390 A G SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known missense c.1487 p.E496G 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 171 0 0 147 46 23.8342 NEUROD2 0 genome.wustl.edu 37 17 37761804 37761804 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 37761804 37761804 C T SNP NEUROD2 ENST00000302584 human ensembl 74_37 -1 known missense c.1049 p.R350H 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD2 HGNC ENSG00000171532 63 0 0 33 5 13.1579 ATP2A3 0 genome.wustl.edu 37 17 3854680 3854680 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 3854680 3854680 G A SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known missense c.328 p.R110C 0.997 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 47 0 0 26 6 18.75 KRTAP4-11 0 genome.wustl.edu 37 17 39274371 39274371 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 39274371 39274371 C T SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known missense c.197 p.R66H 0.000 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 93 0 0 71 8 10.1266 KRT32 0 genome.wustl.edu 37 17 39623442 39623442 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 39623442 39623442 A G SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known missense c.136 p.C46R 0.007 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 46 0 0 40 14 25.9259 KRT36 0 genome.wustl.edu 37 17 39643875 39643875 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 39643875 39643875 G T SNP KRT36 ENST00000328119 human ensembl 74_37 -1 known missense c.814 p.L272M 0.577 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 120 0 0 109 7 6.03448 ZZEF1 0 genome.wustl.edu 37 17 3992073 3992073 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 3992073 3992073 C T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.2140 p.V714I 0.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 63 0 0 46 11 19.2982 ZZEF1 0 genome.wustl.edu 37 17 3992159 3992159 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 3992159 3992159 C T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.2054 p.R685H 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 65 0 0 39 9 18.75 TTC25 0 genome.wustl.edu 37 17 40093283 40093283 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 40093283 40093283 C T SNP TTC25 ENST00000585530 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC25 HGNC ENSG00000204815 46 0 0 41 12 22.6415 ATP6V0A1 0 genome.wustl.edu 37 17 40660596 40660596 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 40660596 40660596 G A SNP ATP6V0A1 ENST00000343619 human ensembl 74_37 +1 known missense c.2119 p.E707K 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 90 0 0 46 21 31.3433 CNTNAP1 0 genome.wustl.edu 37 17 40845418 40845418 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 40845418 40845418 T C SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known silent c.2856 p.G952 0.004 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 124 1 0.8 80 25 23.8095 WNK4 0 genome.wustl.edu 37 17 40948206 40948206 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 40948206 40948206 G A SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.3497 p.R1166Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 57 0 0 41 12 22.6415 NBR2 0 genome.wustl.edu 37 17 41297038 41297038 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 41297038 41297038 G A SNP NBR2 ENST00000460115 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors NBR2 HGNC ENSG00000198496 15 0 0 7 3 30 DHX8 0 genome.wustl.edu 37 17 41570258 41570258 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 41570258 41570258 G A SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.713 p.R238Q 0.976 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 146 0 0 120 24 16.6667 PPY 0 genome.wustl.edu 37 17 42018946 42018946 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 42018946 42018946 C T SNP PPY ENST00000225992 human ensembl 74_37 -1 known missense c.77 p.G26D 0.048 NULL pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors PPY HGNC ENSG00000108849 47 0 0 26 11 29.7297 GPATCH8 0 genome.wustl.edu 37 17 42512489 42512489 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 42512489 42512489 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.292 p.R98C 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 38 0 0 33 5 13.1579 FMNL1 0 genome.wustl.edu 37 17 43311489 43311489 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 43311489 43311489 A G SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.536 p.K179R 1.000 superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 55 0 0 34 17 33.3333 PLEKHM1 0 genome.wustl.edu 37 17 43552823 43552823 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 43552823 43552823 G A SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known missense c.566 p.T189M 1.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 50 0 0 32 17 34.6939 MAPT 0 genome.wustl.edu 37 17 44049230 44049230 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 44049230 44049230 C T SNP MAPT ENST00000344290 human ensembl 74_37 +1 known missense c.139 p.P47S 0.998 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 56 0 0 28 5 15.1515 MAPT 0 genome.wustl.edu 37 17 44101483 44101483 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 44101483 44101483 G A SNP MAPT ENST00000344290 human ensembl 74_37 +1 known silent c.2277 p.Q759 1.000 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 124 0 0 72 17 19.1011 LRRC37A2 0 genome.wustl.edu 37 17 44625998 44625998 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 44625998 44625998 A C SNP LRRC37A2 ENST00000333412 human ensembl 74_37 +1 known missense c.3493 p.K1165Q 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 77 0 0 68 11 13.9241 EFCAB13 0 genome.wustl.edu 37 17 45421629 45421629 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 45421629 45421629 A G SNP EFCAB13 ENST00000331493 human ensembl 74_37 +1 known silent c.405 p.S135 0.000 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 130 1 0.763359 104 29 21.8045 MRPL45P2 0 genome.wustl.edu 37 17 45567563 45567563 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 45567563 45567563 G A SNP MRPL45P2 ENST00000425159 human ensembl 74_37 -1 known rna NULL NULL 0.554 - - - no_errors MRPL45P2 HGNC ENSG00000228782 82 0 0 64 15 18.9873 MRPL10 0 genome.wustl.edu 37 17 45904455 45904455 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 45904455 45904455 C T SNP MRPL10 ENST00000351111 human ensembl 74_37 -1 known missense c.338 p.R113Q 0.313 pfam_Ribosomal_L10/acidic_P0 pfam_Ribosomal_L10/acidic_P0 - no_errors MRPL10 HGNC ENSG00000159111 91 0 0 61 25 29.0698 SKAP1 0 genome.wustl.edu 37 17 46257474 46257474 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 46257474 46257474 C A SNP SKAP1 ENST00000336915 human ensembl 74_37 -1 known silent c.768 p.V256 0.094 NULL pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP1 HGNC ENSG00000141293 80 0 0 59 12 16.9014 HOXB3 0 genome.wustl.edu 37 17 46628479 46628479 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 46628479 46628479 A G SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.513 p.G171 0.938 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 25 0 0 19 6 24 MINK1 0 genome.wustl.edu 37 17 4796056 4796056 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 4796056 4796056 C T SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known silent c.2304 p.R768 0.109 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MINK1 HGNC ENSG00000141503 45 0 0 24 5 17.2414 COL1A1 0 genome.wustl.edu 37 17 48267440 48267440 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 48267440 48267440 G A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known silent c.2481 p.G827 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 85 0 0 66 22 25 MYCBPAP 0 genome.wustl.edu 37 17 48603286 48603286 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 48603286 48603286 G A SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known nonsense c.1956 p.W652* 0.996 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 164 0 0 109 50 31.4465 USP6 0 genome.wustl.edu 37 17 5042837 5042837 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 5042837 5042837 C T SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.1366 p.R456W 0.000 NULL pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 95 0 0 72 6 7.69231 HLF 0 genome.wustl.edu 37 17 53342893 53342893 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 53342893 53342893 G A SNP HLF ENST00000226067 human ensembl 74_37 +1 known silent c.48 p.P16 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors HLF HGNC ENSG00000108924 35 0 0 26 9 25.7143 NLRP1 0 genome.wustl.edu 37 17 5424936 5424936 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 5424936 5424936 C T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.3691 p.V1231I 0.004 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 79 0 0 71 4 5.33333 SCPEP1 0 genome.wustl.edu 37 17 55058503 55058503 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 55058503 55058503 G A SNP SCPEP1 ENST00000262288 human ensembl 74_37 +1 known missense c.137 p.R46H 0.998 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC ENSG00000121064 55 0 0 48 4 7.69231 MKS1 0 genome.wustl.edu 37 17 56288385 56288385 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 56288385 56288385 T C SNP MKS1 ENST00000393119 human ensembl 74_37 -1 known splice_site c.916-2 e10-2 0.998 - - - no_errors MKS1 HGNC ENSG00000011143 67 0 0 63 5 7.35294 PPM1E 0 genome.wustl.edu 37 17 56833491 56833491 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 56833491 56833491 T C SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known missense c.133 p.S45P 0.787 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 13 0 0 13 5 27.7778 SMG8 0 genome.wustl.edu 37 17 57290863 57290863 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 57290863 57290863 A G SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known silent c.2679 p.S893 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 124 0 0 117 11 8.59375 DHX40 0 genome.wustl.edu 37 17 57654713 57654713 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 57654713 57654713 A T SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known missense c.1060 p.I354L 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 43 0 0 39 8 17.0213 LRRC37A3 0 genome.wustl.edu 37 17 62856347 62856347 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 62856347 62856347 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.3917 p.R1306H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 282 0 0 199 59 22.8682 RPH3AL 0 genome.wustl.edu 37 17 63666 63666 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 63666 63666 C T SNP RPH3AL ENST00000331302 human ensembl 74_37 -1 known missense c.925 p.G309S 0.001 NULL pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RPH3AL HGNC ENSG00000181031 33 0 0 30 7 18.9189 KIAA0753 0 genome.wustl.edu 37 17 6493254 6493254 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 6493254 6493254 G A SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known silent c.2631 p.A877 0.000 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 57 0 0 36 8 18.1818 CACNG1 0 genome.wustl.edu 37 17 65050148 65050148 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 65050148 65050148 G A SNP CACNG1 ENST00000226021 human ensembl 74_37 +1 known missense c.266 p.G89D 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu - no_errors CACNG1 HGNC ENSG00000108878 86 0 0 68 18 20.9302 BPTF 0 genome.wustl.edu 37 17 65889728 65889728 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 65889728 65889728 C T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known silent c.2676 p.N892 0.999 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 77 0 0 74 24 24.4898 BPTF 0 genome.wustl.edu 37 17 65900946 65900946 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 65900946 65900946 G A SNP BPTF ENST00000321892 human ensembl 74_37 +1 known silent c.3180 p.S1060 0.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 70 0 0 67 21 23.8636 FBXO39 0 genome.wustl.edu 37 17 6690225 6690225 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 6690225 6690225 C T SNP FBXO39 ENST00000321535 human ensembl 74_37 +1 known missense c.1150 p.R384W 1.000 NULL NULL - no_errors FBXO39 HGNC ENSG00000177294 116 0 0 63 17 21.25 ABCA10 0 genome.wustl.edu 37 17 67178331 67178331 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 67178331 67178331 G A SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.2732 p.T911M 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 55 0 0 39 16 29.0909 KCNJ2 0 genome.wustl.edu 37 17 68171276 68171276 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 68171276 68171276 C T SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known silent c.96 p.N32 0.268 pfam_K_chnl_inward-rec_Kir_N,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 93 0 0 59 12 16.9014 TTYH2 0 genome.wustl.edu 37 17 72233559 72233559 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 72233559 72233559 G A SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known missense c.541 p.V181I 0.893 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 90 0 0 58 22 27.5 GRIN2C 0 genome.wustl.edu 37 17 72848590 72848590 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 72848590 72848590 T A SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known missense c.560 p.D187V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 10 0 0 5 5 50 FDXR 0 genome.wustl.edu 37 17 72860081 72860081 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 72860081 72860081 C T SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.1129 p.V377M 0.998 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 180 0 0 133 27 16.875 OTOP2 0 genome.wustl.edu 37 17 72926394 72926394 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 72926394 72926394 G A SNP OTOP2 ENST00000331427 human ensembl 74_37 +1 known missense c.664 p.G222R 0.665 NULL pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 163 0 0 98 41 29.4964 HID1 0 genome.wustl.edu 37 17 72951939 72951939 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 72951939 72951939 C T SNP HID1 ENST00000425042 human ensembl 74_37 -1 known silent c.1584 p.L528 1.000 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 73 0 0 61 17 21.7949 CDR2L 0 genome.wustl.edu 37 17 72998316 72998316 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 72998316 72998316 A G SNP CDR2L ENST00000337231 human ensembl 74_37 +1 known missense c.499 p.S167G 1.000 NULL NULL - no_errors CDR2L HGNC ENSG00000109089 17 0 0 9 4 30.7692 C17orf74 0 genome.wustl.edu 37 17 7329702 7329702 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 7329702 7329702 A G SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.392 p.H131R 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 123 0 0 95 5 5 C17orf74 0 genome.wustl.edu 37 17 7329861 7329861 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 7329861 7329861 A G SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.551 p.Y184C 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 167 0 0 90 31 25.6198 CASKIN2 0 genome.wustl.edu 37 17 73501711 73501711 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 73501711 73501711 A G SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known missense c.857 p.V286A 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 109 0 0 79 16 16.8421 ITGB4 0 genome.wustl.edu 37 17 73728020 73728020 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 73728020 73728020 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.1343 p.A448V 0.002 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 55 0 0 26 4 13.3333 UNK 0 genome.wustl.edu 37 17 73805997 73805997 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 73805997 73805997 C T SNP UNK ENST00000293218 human ensembl 74_37 +1 known silent c.489 p.D163 1.000 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 88 0 0 73 15 17.0455 SPHK1 0 genome.wustl.edu 37 17 74383648 74383648 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 74383648 74383648 C T SNP SPHK1 ENST00000323374 human ensembl 74_37 +1 known missense c.1394 p.P465L 0.002 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 73 0 0 31 17 35.4167 CBX2 0 genome.wustl.edu 37 17 77757794 77757794 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 77757794 77757794 G T SNP CBX2 ENST00000310942 human ensembl 74_37 +1 known missense c.552 p.K184N 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX2 HGNC ENSG00000173894 65 0 0 48 11 18.6441 CCDC40 0 genome.wustl.edu 37 17 78063670 78063670 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 78063670 78063670 T C SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.2819 p.I940T 1.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 45 0 0 24 7 22.5806 GAA 0 genome.wustl.edu 37 17 78086379 78086379 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 78086379 78086379 C T SNP GAA ENST00000302262 human ensembl 74_37 +1 known missense c.1757 p.A586V 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 35 0 0 20 8 28.5714 RNF213 0 genome.wustl.edu 37 17 78346440 78346440 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 78346440 78346440 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.12657 p.N4219 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 43 0 0 25 8 24.2424 RNF213 0 genome.wustl.edu 37 17 78346893 78346893 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 78346893 78346893 G C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.12870 p.E4290D 0.996 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 51 0 0 24 14 36.8421 NPTX1 0 genome.wustl.edu 37 17 78449519 78449519 + Splice_Site SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 78449519 78449519 C T SNP NPTX1 ENST00000306773 human ensembl 74_37 -1 known splice_site c.445-1 e2-1 1.000 - - - no_errors NPTX1 HGNC ENSG00000171246 46 0 0 19 3 13.6364 BAIAP2 0 genome.wustl.edu 37 17 79077743 79077743 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 79077743 79077743 G A SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known missense c.901 p.G301S 0.999 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 112 0 0 76 19 20 ASPSCR1 0 genome.wustl.edu 37 17 79954320 79954320 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 79954320 79954320 C T SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known silent c.531 p.P177 0.000 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 60 0 0 30 8 21.0526 ASPSCR1 0 genome.wustl.edu 37 17 79974836 79974836 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 79974836 79974836 G A SNP ASPSCR1 ENST00000306729 human ensembl 74_37 +1 known missense c.1777 p.G593R 0.000 NULL pfam_TUG/UBX4,pfam_UBX,pfscan_UBX - no_errors ASPSCR1 HGNC ENSG00000169696 60 0 0 46 5 9.80392 FASN 0 genome.wustl.edu 37 17 80037389 80037389 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 80037389 80037389 C A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.7242 p.Q2414H 0.000 pfam_Thioesterase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 82 0 0 55 15 21.4286 C17orf62 0 genome.wustl.edu 37 17 80402350 80402350 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 80402350 80402350 G A SNP C17orf62 ENST00000306645 human ensembl 74_37 -1 known missense c.416 p.T139M 1.000 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 75 0 0 48 14 22.5806 FN3K 0 genome.wustl.edu 37 17 80708552 80708552 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 80708552 80708552 A C SNP FN3K ENST00000300784 human ensembl 74_37 +1 known missense c.851 p.N284T 1.000 pfam_Fructo-/Ketosamine-3-kinase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3K HGNC ENSG00000167363 189 0 0 134 52 27.957 ARHGEF15 0 genome.wustl.edu 37 17 8219438 8219438 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 8219438 8219438 G A SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.1676 p.R559H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 26 0 0 16 6 27.2727 APCDD1 0 genome.wustl.edu 37 18 10471815 10471815 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 10471815 10471815 C T SNP APCDD1 ENST00000355285 human ensembl 74_37 +1 known silent c.531 p.D177 0.000 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 152 0 0 106 32 23.1884 NAPG 0 genome.wustl.edu 37 18 10548342 10548342 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 10548342 10548342 T C SNP NAPG ENST00000322897 human ensembl 74_37 +1 known missense c.632 p.V211A 1.000 NULL NULL - no_errors NAPG HGNC ENSG00000134265 133 0 0 101 34 25.1852 ROCK1 0 genome.wustl.edu 37 18 18562783 18562783 + Nonsense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 18562783 18562783 C A SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known nonsense c.2500 p.G834* 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 47 0 0 48 9 15.7895 CTAGE1 0 genome.wustl.edu 37 18 19997740 19997740 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 19997740 19997740 C A SNP CTAGE1 ENST00000391403 human ensembl 74_37 -1 known missense c.35 p.W12L 0.000 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 38 0 0 28 8 22.2222 NPC1 0 genome.wustl.edu 37 18 21121037 21121037 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 21121037 21121037 T A SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.2509 p.I837F 0.013 pfam_Patched,tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 110 0 0 79 36 31.3043 AQP4 0 genome.wustl.edu 37 18 24441102 24441102 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 24441102 24441102 A G SNP AQP4 ENST00000383168 human ensembl 74_37 -1 known missense c.605 p.L202S 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP4 HGNC ENSG00000171885 91 0 0 81 29 26.3636 KLHL14 0 genome.wustl.edu 37 18 30349891 30349891 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 30349891 30349891 G A SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.664 p.R222C 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 66 0 0 41 10 19.6078 MYOM1 0 genome.wustl.edu 37 18 3067480 3067480 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 3067480 3067480 A G SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known missense c.4838 p.L1613P 0.576 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 70 0 0 42 12 22.2222 NOL4 0 genome.wustl.edu 37 18 31803204 31803204 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 31803204 31803204 C A SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known missense c.14 p.R5L 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 74 0 0 58 9 13.4328 EPG5 0 genome.wustl.edu 37 18 43495561 43495561 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 43495561 43495561 C T SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.3608 p.R1203Q 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 103 0 0 61 18 22.7848 ST8SIA5 0 genome.wustl.edu 37 18 44336461 44336461 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 44336461 44336461 G A SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known missense c.11 p.A4V 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 76 0 0 49 9 15.5172 HDHD2 0 genome.wustl.edu 37 18 44660950 44660950 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 44660950 44660950 A G SNP HDHD2 ENST00000300605 human ensembl 74_37 -1 known missense c.227 p.L76P 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors HDHD2 HGNC ENSG00000167220 101 0 0 69 21 23.3333 CTIF 0 genome.wustl.edu 37 18 46163044 46163044 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 46163044 46163044 C A SNP CTIF ENST00000382998 human ensembl 74_37 +1 known silent c.240 p.A80 0.204 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 33 0 0 26 6 18.75 DYM 0 genome.wustl.edu 37 18 46808386 46808386 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 46808386 46808386 C T SNP DYM ENST00000269445 human ensembl 74_37 -1 known missense c.1106 p.R369H 1.000 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 57 0 0 64 12 15.7895 ME2 0 genome.wustl.edu 37 18 48473570 48473570 + RNA SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 48473570 48473570 A G SNP ME2 ENST00000585680 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ME2 HGNC ENSG00000082212 85 0 0 71 19 21.1111 DCC 0 genome.wustl.edu 37 18 50592432 50592432 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 50592432 50592432 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.1157 p.R386Q 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 141 0 0 98 26 20.9677 ALPK2 0 genome.wustl.edu 37 18 56202918 56202918 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 56202918 56202918 C T SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.4501 p.G1501S 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 77 0 0 54 16 22.8571 RN7SL537P 0 genome.wustl.edu 37 18 6972963 6972963 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 6972963 6972963 T C SNP RN7SL537P ENST00000584392 human ensembl 74_37 -1 known rna NULL NULL 0.108 - - - no_errors RN7SL537P HGNC ENSG00000265890 79 0 0 69 15 17.8571 LAMA1 0 genome.wustl.edu 37 18 7013850 7013850 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 7013850 7013850 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.3327 p.C1109 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 19 0 0 17 4 19.0476 LAMA1 0 genome.wustl.edu 37 18 7036027 7036027 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 7036027 7036027 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1798 p.V600I 0.003 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 54 0 0 39 9 18.75 ZNF236 0 genome.wustl.edu 37 18 74639294 74639294 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 74639294 74639294 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.4229 p.T1410M 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 119 0 0 60 29 32.5843 ICAM1 0 genome.wustl.edu 37 19 10385679 10385679 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 10385679 10385679 A G SNP ICAM1 ENST00000264832 human ensembl 74_37 +1 known silent c.306 p.T102 0.000 pfam_ICAM_N,smart_Ig_sub pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 168 0 0 102 37 26.6187 FDX1L 0 genome.wustl.edu 37 19 10421567 10421567 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 10421567 10421567 A G SNP FDX1L ENST00000393708 human ensembl 74_37 -1 known silent c.357 p.S119 0.004 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin - no_errors FDX1L HGNC ENSG00000267673 50 0 0 29 6 17.1429 TYK2 0 genome.wustl.edu 37 19 10463634 10463634 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 10463634 10463634 G A SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known silent c.3168 p.R1056 0.986 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom 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_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 61 0 0 55 16 22.5352 TYK2 0 genome.wustl.edu 37 19 10463657 10463657 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 10463657 10463657 G A SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known missense c.3145 p.P1049S 1.000 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom 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_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 49 0 0 51 15 22.7273 ABCA7 0 genome.wustl.edu 37 19 1047357 1047357 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 1047357 1047357 G A SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.2047 p.A683T 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 23 0 0 13 5 27.7778 HMHA1 0 genome.wustl.edu 37 19 1074618 1074618 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 1074618 1074618 C T SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.999 p.H333 1.000 smart_FCH_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 14 0 0 14 3 17.6471 HMHA1 0 genome.wustl.edu 37 19 1080043 1080043 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 1080043 1080043 C T SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.1629 p.H543 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 99 0 0 77 23 23 DNM2 0 genome.wustl.edu 37 19 10893692 10893692 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 10893692 10893692 C T SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known missense c.745 p.R249C 1.000 pfam_Dynamin_central,superfamily_P-loop_NTPase 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 DNM2 HGNC ENSG00000079805 69 0 0 48 11 18.6441 KANK2 0 genome.wustl.edu 37 19 11289278 11289278 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 11289278 11289278 C T SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known silent c.1368 p.E456 0.060 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 44 0 0 26 10 27.7778 CCDC159 0 genome.wustl.edu 37 19 11465355 11465355 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 11465355 11465355 G A SNP CCDC159 ENST00000458408 human ensembl 74_37 +1 known missense c.872 p.G291D 0.002 NULL NULL - no_errors CCDC159 HGNC ENSG00000183401 18 0 0 9 3 25 ELAVL3 0 genome.wustl.edu 37 19 11577437 11577437 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 11577437 11577437 C T SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known missense c.215 p.R72Q 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 124 0 0 79 6 7.05882 ZNF653 0 genome.wustl.edu 37 19 11598444 11598444 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 11598444 11598444 G A SNP ZNF653 ENST00000293771 human ensembl 74_37 -1 known silent c.834 p.C278 0.709 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF653 HGNC ENSG00000161914 113 0 0 71 16 18.3908 ACP5 0 genome.wustl.edu 37 19 11687248 11687248 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 11687248 11687248 C T SNP ACP5 ENST00000218758 human ensembl 74_37 -1 known missense c.545 p.R182H 0.985 pfam_PEstase_dom pfam_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 59 0 0 38 13 25.4902 STK11 0 genome.wustl.edu 37 19 1226472 1226472 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 1226472 1226472 G T SNP STK11 ENST00000326873 human ensembl 74_37 +1 known missense c.1128 p.E376D 0.647 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK11 HGNC ENSG00000118046 25 0 0 16 4 20 FBXW9 0 genome.wustl.edu 37 19 12800607 12800607 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 12800607 12800607 C T SNP FBXW9 ENST00000380339 human ensembl 74_37 -1 known missense c.1204 p.A402T 0.949 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 100 1 0.990099 53 14 20.8955 JUNB 0 genome.wustl.edu 37 19 12902771 12902771 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 12902771 12902771 C T SNP JUNB ENST00000302754 human ensembl 74_37 +1 known silent c.186 p.G62 0.949 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 21 0 0 10 6 37.5 DAND5 0 genome.wustl.edu 37 19 13080609 13080609 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 13080609 13080609 A G SNP DAND5 ENST00000317060 human ensembl 74_37 +1 known silent c.135 p.P45 0.013 pirsf_Cerberus pfam_DAN,pirsf_Cerberus - no_errors DAND5 HGNC ENSG00000179284 171 0 0 108 23 17.5573 CACNA1A 0 genome.wustl.edu 37 19 13414693 13414693 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 13414693 13414693 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.1992 p.L664 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 185 0 0 88 30 25.4237 APC2 0 genome.wustl.edu 37 19 1460273 1460273 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 1460273 1460273 C T SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.1397 p.A466V 0.999 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 112 0 0 66 23 25.8427 OR7A5 0 genome.wustl.edu 37 19 14938257 14938257 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 14938257 14938257 C T SNP OR7A5 ENST00000322301 human ensembl 74_37 -1 known missense c.797 p.R266H 0.004 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 OR7A5 HGNC ENSG00000188269 100 0 0 94 7 6.93069 CCDC105 0 genome.wustl.edu 37 19 15133898 15133898 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 15133898 15133898 G A SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known silent c.1467 p.P489 0.407 NULL pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 20 0 0 10 3 23.0769 C19orf44 0 genome.wustl.edu 37 19 16620476 16620476 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 16620476 16620476 G A SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known missense c.1316 p.S439N 0.000 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 101 0 0 55 20 26.6667 F2RL3 0 genome.wustl.edu 37 19 17001117 17001117 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 17001117 17001117 G A SNP F2RL3 ENST00000248076 human ensembl 74_37 +1 known silent c.843 p.A281 0.011 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL3 HGNC ENSG00000127533 14 0 0 6 5 45.4545 SLC27A1 0 genome.wustl.edu 37 19 17597507 17597507 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 17597507 17597507 C T SNP SLC27A1 ENST00000252595 human ensembl 74_37 +1 known silent c.303 p.G101 0.002 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 37 0 0 24 10 29.4118 FAM129C 0 genome.wustl.edu 37 19 17641670 17641670 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 17641670 17641670 C A SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known silent c.255 p.T85 0.000 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 49 0 0 40 6 13.0435 UNC13A 0 genome.wustl.edu 37 19 17752292 17752292 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 17752292 17752292 G C SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.2810 p.A937G 1.000 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 72 0 0 48 20 29.4118 UNC13A 0 genome.wustl.edu 37 19 17785510 17785510 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 17785510 17785510 G A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known silent c.372 p.I124 0.987 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom 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 100 1 0.990099 72 22 23.4043 SUGP2 0 genome.wustl.edu 37 19 19135651 19135651 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 19135651 19135651 G A SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known silent c.1506 p.V502 0.001 NULL 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 159 0 0 97 27 21.7742 TSSK6 0 genome.wustl.edu 37 19 19625628 19625628 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 19625628 19625628 G A SNP TSSK6 ENST00000360913 human ensembl 74_37 -1 known silent c.609 p.Y203 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK6 HGNC ENSG00000178093 82 0 0 50 17 25.3731 CILP2 0 genome.wustl.edu 37 19 19655446 19655446 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 19655446 19655446 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.2092 p.R698W 0.335 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 13 0 0 12 4 25 ZNF90 0 genome.wustl.edu 37 19 20230066 20230066 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 20230066 20230066 A G SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known missense c.1703 p.E568G 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF90 HGNC ENSG00000213988 34 0 0 25 5 16.6667 ZNF90 0 genome.wustl.edu 37 19 20235949 20235949 + RNA SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 20235949 20235949 A G SNP ZNF90 ENST00000474284 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC ENSG00000213988 40 0 0 29 4 12.1212 LOC641367 0 genome.wustl.edu 37 19 21934473 21934473 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 21934473 21934473 C T SNP LOC641367 ENST00000596710 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-420K14.6 Clone_based_vega_gene ENSG00000269845 33 0 0 23 9 28.125 ZNF208 0 genome.wustl.edu 37 19 22157258 22157258 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 22157258 22157258 C A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.578 p.R193I 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 59 0 0 57 14 19.7183 ZNF728 0 genome.wustl.edu 37 19 23159532 23159532 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 23159532 23159532 T C SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel missense c.607 p.S203G 0.144 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF728 HGNC ENSG00000269067 27 0 0 30 5 14.2857 TMPRSS9 0 genome.wustl.edu 37 19 2422184 2422184 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 2422184 2422184 T C SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known silent c.2385 p.T795 0.000 pirsf_Pept_S1A_polyserase-1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 124 0 0 96 37 27.8195 ZNF77 0 genome.wustl.edu 37 19 2934127 2934127 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 2934127 2934127 A G SNP ZNF77 ENST00000314531 human ensembl 74_37 -1 known missense c.998 p.F333S 0.597 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF77 HGNC ENSG00000175691 98 0 0 75 26 25.7426 ZNF77 0 genome.wustl.edu 37 19 2934175 2934175 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 2934175 2934175 G A SNP ZNF77 ENST00000314531 human ensembl 74_37 -1 known missense c.950 p.T317M 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF77 HGNC ENSG00000175691 121 0 0 98 34 25.7576 ZNF507 0 genome.wustl.edu 37 19 32845589 32845589 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 32845589 32845589 A G SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.1853 p.Q618R 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 101 0 0 59 15 20.2703 ENSG00000267555 0 genome.wustl.edu 37 19 33323957 33323957 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 33323957 33323957 T C SNP ENSG00000267555 ENST00000590069 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors CTD-2085J24.3 Clone_based_vega_gene ENSG00000267555 58 0 0 27 11 28.9474 UBA2 0 genome.wustl.edu 37 19 34919408 34919408 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 34919408 34919408 G T SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known missense c.71 p.G24V 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 13 0 0 8 4 33.3333 GRAMD1A 0 genome.wustl.edu 37 19 35510163 35510163 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 35510163 35510163 C A SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known missense c.1282 p.P428T 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 66 0 0 59 15 20.2703 FXYD3 0 genome.wustl.edu 37 19 35612168 35612168 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 35612168 35612168 T A SNP FXYD3 ENST00000454903 human ensembl 74_37 +1 known missense c.116 p.L39H 0.000 NULL NULL - no_errors FXYD3 HGNC ENSG00000089356 78 0 0 62 4 6.06061 FFAR2 0 genome.wustl.edu 37 19 35940753 35940753 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 35940753 35940753 T C SNP FFAR2 ENST00000246549 human ensembl 74_37 +1 known missense c.137 p.I46T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR2 HGNC ENSG00000126262 68 0 0 56 14 20 UPK1A 0 genome.wustl.edu 37 19 36166831 36166831 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 36166831 36166831 G A SNP UPK1A ENST00000379013 human ensembl 74_37 +1 known nonsense c.558 p.W186* 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 71 0 0 39 13 25 ZBTB32 0 genome.wustl.edu 37 19 36205601 36205601 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 36205601 36205601 C T SNP ZBTB32 ENST00000262630 human ensembl 74_37 +1 known missense c.73 p.R25W 0.133 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB32 HGNC ENSG00000011590 169 0 0 101 31 23.4848 CACTIN 0 genome.wustl.edu 37 19 3624114 3624114 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 3624114 3624114 G A SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.10 p.R4W 0.007 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 117 0 0 91 26 22.2222 C19orf55 0 genome.wustl.edu 37 19 36258942 36258942 + Splice_Site SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 36258942 36258942 C T SNP C19orf55 ENST00000396908 human ensembl 74_37 +1 known splice_site c.1192-1 e10-1 0.025 - - - no_errors C19orf55 HGNC ENSG00000167595 17 0 0 7 3 30 LRFN3 0 genome.wustl.edu 37 19 36435548 36435548 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 36435548 36435548 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.1514 p.T505M 0.997 pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 19 0 0 15 3 16.6667 THAP8 0 genome.wustl.edu 37 19 36530862 36530862 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 36530862 36530862 C T SNP THAP8 ENST00000292894 human ensembl 74_37 -1 known missense c.260 p.R87Q 0.001 pfam_Znf_C2CH,smart_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP8 HGNC ENSG00000161277 46 0 0 33 14 29.7872 PIP5K1C 0 genome.wustl.edu 37 19 3653477 3653477 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 3653477 3653477 G A SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known silent c.732 p.R244 0.407 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 102 0 0 47 18 27.6923 ZFP14 0 genome.wustl.edu 37 19 36831891 36831891 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 36831891 36831891 A C SNP ZFP14 ENST00000270001 human ensembl 74_37 -1 known silent c.837 p.T279 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 ZFP14 HGNC ENSG00000142065 106 0 0 79 7 8.13953 TJP3 0 genome.wustl.edu 37 19 3746525 3746525 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 3746525 3746525 C T SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.2152 p.R718C 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 77 0 0 36 8 18.1818 ZNF420 0 genome.wustl.edu 37 19 37619900 37619900 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 37619900 37619900 A G SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known silent c.2007 p.K669 0.129 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 ZNF420 HGNC ENSG00000197050 104 0 0 108 20 15.625 ZNF607 0 genome.wustl.edu 37 19 38190550 38190550 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 38190550 38190550 T C SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.482 p.Q161R 0.856 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 ZNF607 HGNC ENSG00000198182 109 0 0 86 23 21.1009 RYR1 0 genome.wustl.edu 37 19 38951087 38951087 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 38951087 38951087 T C SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.2433 p.H811 0.968 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 160 0 0 132 9 6.38298 ACTN4 0 genome.wustl.edu 37 19 39219765 39219765 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 39219765 39219765 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.2548 p.A850T 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 132 0 0 82 23 21.9048 ECH1 0 genome.wustl.edu 37 19 39306597 39306597 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 39306597 39306597 G A SNP ECH1 ENST00000221418 human ensembl 74_37 -1 known missense c.782 p.A261V 0.996 NULL pfam_Crotonase_core_superfam - no_errors ECH1 HGNC ENSG00000104823 54 0 0 33 15 31.25 RINL 0 genome.wustl.edu 37 19 39361234 39361234 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 39361234 39361234 G A SNP RINL ENST00000591812 human ensembl 74_37 -1 known missense c.1000 p.L334F 0.000 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors RINL HGNC ENSG00000187994 37 0 0 14 10 41.6667 DAPK3 0 genome.wustl.edu 37 19 3959614 3959614 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 3959614 3959614 G A SNP DAPK3 ENST00000301264 human ensembl 74_37 -1 known missense c.850 p.R284C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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 DAPK3 HGNC ENSG00000167657 11 0 0 8 4 33.3333 SELV 0 genome.wustl.edu 37 19 40006574 40006574 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 40006574 40006574 T C SNP SELV ENST00000423711 human ensembl 74_37 +1 known missense c.722 p.I241T 0.000 NULL pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors SELV Uniprot_gn ENSG00000186838 19 0 0 10 3 23.0769 LGALS16 0 genome.wustl.edu 37 19 40149273 40149273 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 40149273 40149273 T C SNP LGALS16 ENST00000392051 human ensembl 74_37 +1 known missense c.266 p.F89S 0.066 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS16 HGNC ENSG00000249861 12 0 0 11 5 31.25 LTBP4 0 genome.wustl.edu 37 19 41135394 41135394 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 41135394 41135394 G A SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.4811 p.R1604H 0.113 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 50 0 0 42 9 17.6471 AXL 0 genome.wustl.edu 37 19 41759598 41759598 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 41759598 41759598 C T SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.2021 p.A674V 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 41 0 0 18 5 21.7391 AXL 0 genome.wustl.edu 37 19 41763458 41763458 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 41763458 41763458 G A SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.2257 p.V753M 0.998 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 147 0 0 77 24 23.7624 HNRNPUL1 0 genome.wustl.edu 37 19 41782157 41782157 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 41782157 41782157 G A SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.740 p.R247H 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 137 0 0 81 30 27.027 B9D2 0 genome.wustl.edu 37 19 41869382 41869382 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 41869382 41869382 C T SNP B9D2 ENST00000243578 human ensembl 74_37 -1 known missense c.43 p.G15S 1.000 pfam_B9_dom pfam_B9_dom - no_errors B9D2 HGNC ENSG00000123810 54 0 0 27 7 20.5882 TMEM91 0 genome.wustl.edu 37 19 41888686 41888686 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 41888686 41888686 T C SNP TMEM91 ENST00000392002 human ensembl 74_37 +1 known missense c.220 p.S74P 0.954 NULL pfam_CD225/Dispanin_fam - no_errors TMEM91 HGNC ENSG00000142046 333 0 0 264 88 25 ANKRD24 0 genome.wustl.edu 37 19 4216637 4216637 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 4216637 4216637 G A SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known missense c.1480 p.A494T 0.046 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 12 0 0 11 3 21.4286 ARHGEF1 0 genome.wustl.edu 37 19 42406950 42406950 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 42406950 42406950 C T SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.1685 p.P562L 0.874 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 79 0 0 49 11 18.3333 ZNF574 0 genome.wustl.edu 37 19 42585031 42585031 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 42585031 42585031 G A SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.2543 p.R848H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 216 1 0.460829 159 34 17.6166 GSK3A 0 genome.wustl.edu 37 19 42738768 42738768 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 42738768 42738768 G A SNP GSK3A ENST00000222330 human ensembl 74_37 -1 known silent c.729 p.R243 0.884 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3A HGNC ENSG00000105723 45 0 0 17 11 39.2857 ZNF227 0 genome.wustl.edu 37 19 44740652 44740652 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 44740652 44740652 G C SNP ZNF227 ENST00000313040 human ensembl 74_37 +1 known missense c.2069 p.C690S 0.954 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF227 HGNC ENSG00000131115 85 0 0 60 15 20 ZNF229 0 genome.wustl.edu 37 19 44947008 44947008 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 44947008 44947008 A G SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known silent c.24 p.H8 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF229 HGNC ENSG00000167383 81 0 0 63 21 25 ENSG00000267282 0 genome.wustl.edu 37 19 45385449 45385449 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 45385449 45385449 G A SNP ENSG00000267282 ENST00000585408 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTB-129P6.4 Clone_based_vega_gene ENSG00000267282 23 0 0 18 9 33.3333 CLPTM1 0 genome.wustl.edu 37 19 45493718 45493718 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 45493718 45493718 G A SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known missense c.1198 p.V400I 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 213 1 0.46729 181 25 12.1359 ZNF296 0 genome.wustl.edu 37 19 45575703 45575703 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 45575703 45575703 G A SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known missense c.584 p.P195L 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 69 0 0 42 18 30 KLC3 0 genome.wustl.edu 37 19 45852769 45852769 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 45852769 45852769 A G SNP KLC3 ENST00000470402 human ensembl 74_37 +1 known missense c.1094 p.D365G 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC ENSG00000104892 82 0 0 48 10 17.2414 KLC3 0 genome.wustl.edu 37 19 45854275 45854275 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 45854275 45854275 G T SNP KLC3 ENST00000470402 human ensembl 74_37 +1 known missense c.1485 p.Q495H 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC3 HGNC ENSG00000104892 71 0 0 37 8 17.7778 CD3EAP 0 genome.wustl.edu 37 19 45912587 45912587 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 45912587 45912587 G T SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.1367 p.R456M 0.000 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 56 0 0 41 15 26.7857 PPP5C 0 genome.wustl.edu 37 19 46879730 46879730 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 46879730 46879730 G A SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known missense c.532 p.G178R 1.000 pfam_PPP_dom,pirsf_Ser/Thr_PPase_5 pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 69 0 0 42 15 26.3158 DHX34 0 genome.wustl.edu 37 19 47883099 47883099 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 47883099 47883099 C T SNP DHX34 ENST00000328771 human ensembl 74_37 +1 known missense c.2839 p.R947C 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC ENSG00000134815 109 0 0 58 15 20.5479 SLC8A2 0 genome.wustl.edu 37 19 47969321 47969321 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 47969321 47969321 C T SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.340 p.G114S 0.998 pfam_NaCa_Exmemb,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 75 0 0 51 17 25 KPTN 0 genome.wustl.edu 37 19 47986421 47986421 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 47986421 47986421 G A SNP KPTN ENST00000338134 human ensembl 74_37 -1 known missense c.446 p.A149V 0.997 NULL NULL - no_errors KPTN HGNC ENSG00000118162 278 0 0 149 69 31.6514 NAPA 0 genome.wustl.edu 37 19 47996224 47996224 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 47996224 47996224 G A SNP NAPA ENST00000263354 human ensembl 74_37 -1 known silent c.555 p.Y185 0.998 prints_NSF_attach prints_NSF_attach - no_errors NAPA HGNC ENSG00000105402 91 0 0 76 21 21.6495 FUT2 0 genome.wustl.edu 37 19 49206646 49206646 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49206646 49206646 G A SNP FUT2 ENST00000391876 human ensembl 74_37 +1 known missense c.433 p.V145I 0.566 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC ENSG00000176920 73 0 0 54 17 23.9437 RASIP1 0 genome.wustl.edu 37 19 49230076 49230076 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49230076 49230076 C T SNP RASIP1 ENST00000222145 human ensembl 74_37 -1 known missense c.2093 p.C698Y 1.000 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC ENSG00000105538 82 0 0 63 22 25.8824 FUT1 0 genome.wustl.edu 37 19 49253922 49253922 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49253922 49253922 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known missense c.617 p.R206H 0.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 218 1 0.456621 135 36 21.0526 PLEKHA4 0 genome.wustl.edu 37 19 49340773 49340773 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49340773 49340773 C T SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.2113 p.G705S 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 44 0 0 46 14 23.3333 CGB8 0 genome.wustl.edu 37 19 49551585 49551585 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49551585 49551585 T C SNP CGB8 ENST00000448456 human ensembl 74_37 -1 known silent c.60 p.A20 0.944 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB8 HGNC ENSG00000213030 56 0 0 22 6 21.4286 PPFIA3 0 genome.wustl.edu 37 19 49641625 49641625 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49641625 49641625 G A SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.2017 p.G673S 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 77 0 0 40 9 18.3673 TRPM4 0 genome.wustl.edu 37 19 49692316 49692316 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49692316 49692316 G A SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.1987 p.A663T 0.999 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 126 0 0 82 45 35.4331 PRMT1 0 genome.wustl.edu 37 19 50188254 50188254 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 50188254 50188254 T C SNP PRMT1 ENST00000454376 human ensembl 74_37 +1 known missense c.719 p.V240A 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 74 0 0 54 20 27.027 PRMT1 0 genome.wustl.edu 37 19 50189419 50189419 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 50189419 50189419 C T SNP PRMT1 ENST00000454376 human ensembl 74_37 +1 known missense c.829 p.R277W 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 47 0 0 32 7 17.9487 ACPT 0 genome.wustl.edu 37 19 51298304 51298304 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 51298304 51298304 A G SNP ACPT ENST00000270594 human ensembl 74_37 +1 known silent c.891 p.P297 0.010 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 19 0 0 17 6 26.087 SIGLEC9 0 genome.wustl.edu 37 19 51628959 51628959 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 51628959 51628959 C A SNP SIGLEC9 ENST00000440804 human ensembl 74_37 +1 known missense c.527 p.P176H 0.000 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 186 0 0 132 66 33.3333 IGLON5 0 genome.wustl.edu 37 19 51826934 51826934 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 51826934 51826934 C T SNP IGLON5 ENST00000270642 human ensembl 74_37 +1 known silent c.177 p.H59 0.863 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGLON5 HGNC ENSG00000142549 44 0 0 26 14 35 SIGLEC12 0 genome.wustl.edu 37 19 52004970 52004970 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 52004970 52004970 T C SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known silent c.18 p.L6 0.984 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 47 0 0 23 13 36.1111 ZNF321P 0 genome.wustl.edu 37 19 53432346 53432346 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 53432346 53432346 T G SNP ZNF321P ENST00000391777 human ensembl 74_37 -1 known missense c.512 p.Q171P 0.004 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF321P HGNC ENSG00000221874 207 0 0 159 100 38.61 ZNRF4 0 genome.wustl.edu 37 19 5456055 5456055 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 5456055 5456055 G A SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.553 p.V185M 0.575 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 107 0 0 72 20 21.7391 LILRA4 0 genome.wustl.edu 37 19 54848404 54848404 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 54848404 54848404 A G SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known silent c.963 p.S321 0.000 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 65 0 0 38 13 25.4902 LILRB1 0 genome.wustl.edu 37 19 55143958 55143958 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 55143958 55143958 C A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known silent c.705 p.I235 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 122 0 0 103 25 19.5312 LILRB4 0 genome.wustl.edu 37 19 55179347 55179347 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 55179347 55179347 G A SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known silent c.1224 p.Q408 0.982 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 121 0 0 91 14 13.3333 TMEM190 0 genome.wustl.edu 37 19 55889086 55889086 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 55889086 55889086 G A SNP TMEM190 ENST00000291934 human ensembl 74_37 +1 known missense c.220 p.E74K 0.957 superfamily_P_trefoil superfamily_P_trefoil - no_errors TMEM190 HGNC ENSG00000160472 87 0 0 83 15 15.3061 ZSCAN5A 0 genome.wustl.edu 37 19 56736258 56736258 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 56736258 56736258 G A SNP ZSCAN5A ENST00000391713 human ensembl 74_37 -1 known missense c.158 p.P53L 0.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 87 0 0 47 43 47.7778 ZNF667 0 genome.wustl.edu 37 19 56953952 56953952 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 56953952 56953952 G A SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.796 p.H266Y 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 128 0 0 101 54 34.8387 ZNF71 0 genome.wustl.edu 37 19 57133564 57133564 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 57133564 57133564 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.909 p.C303 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 102 1 0.970874 71 15 17.4419 ZNF71 0 genome.wustl.edu 37 19 57133847 57133847 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 57133847 57133847 A G SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.1192 p.I398V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 94 0 0 73 9 10.9756 ZNF835 0 genome.wustl.edu 37 19 57176308 57176308 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 57176308 57176308 C A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.259 p.G87W 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 48 0 0 39 6 13.3333 PEG3 0 genome.wustl.edu 37 19 57328006 57328006 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 57328006 57328006 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.1804 p.R602C 0.001 NULL 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 PEG3 HGNC ENSG00000198300 65 0 0 39 21 35 ZNF749 0 genome.wustl.edu 37 19 57956100 57956100 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 57956100 57956100 G A SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known silent c.1584 p.Q528 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 112 0 0 101 20 16.5289 ZNF419 0 genome.wustl.edu 37 19 58005254 58005254 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 58005254 58005254 G A SNP ZNF419 ENST00000424930 human ensembl 74_37 +1 known missense c.1332 p.M444I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF419 HGNC ENSG00000105136 140 0 0 114 64 35.9551 ZNF549 0 genome.wustl.edu 37 19 58048899 58048899 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 58048899 58048899 C A SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known missense c.527 p.P176H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF549 HGNC ENSG00000121406 63 0 0 60 15 20 ZNF417 0 genome.wustl.edu 37 19 58420052 58420052 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 58420052 58420052 A G SNP ZNF417 ENST00000312026 human ensembl 74_37 -1 known missense c.1594 p.C532R 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF417 HGNC ENSG00000173480 112 0 0 104 26 20 ZNF132 0 genome.wustl.edu 37 19 58946192 58946192 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 58946192 58946192 G T SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known missense c.619 p.L207I 0.042 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF132 HGNC ENSG00000131849 112 0 0 67 34 33.6634 TRIM28 0 genome.wustl.edu 37 19 59058826 59058826 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 59058826 59058826 T C SNP TRIM28 ENST00000253024 human ensembl 74_37 +1 known missense c.670 p.C224R 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 46 0 0 27 10 27.027 DENND1C 0 genome.wustl.edu 37 19 6471450 6471450 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 6471450 6471450 C T SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known missense c.1216 p.E406K 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 13 0 0 5 2 28.5714 ZNF358 0 genome.wustl.edu 37 19 7585009 7585009 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 7585009 7585009 C T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.881 p.P294L 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 36 0 0 19 6 24 ZNF358 0 genome.wustl.edu 37 19 7585714 7585714 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 7585714 7585714 A T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.1586 p.N529I 0.579 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 134 0 0 83 20 19.4175 MCOLN1 0 genome.wustl.edu 37 19 7591756 7591756 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 7591756 7591756 G A SNP MCOLN1 ENST00000264079 human ensembl 74_37 +1 known missense c.515 p.R172Q 0.115 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 86 0 0 61 18 22.7848 PNPLA6 0 genome.wustl.edu 37 19 7607555 7607555 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 7607555 7607555 G A SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.1388 p.R463Q 0.997 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 52 0 0 36 5 12.1951 EVI5L 0 genome.wustl.edu 37 19 7911452 7911452 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 7911452 7911452 C T SNP EVI5L ENST00000538904 human ensembl 74_37 +1 known silent c.24 p.P8 0.433 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 107 0 0 42 13 23.6364 LPPR3 0 genome.wustl.edu 37 19 815829 815829 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 815829 815829 A T SNP LPPR3 ENST00000359894 human ensembl 74_37 -1 known missense c.98 p.I33N 0.981 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR3 Uniprot_gn ENSG00000129951 57 0 0 37 4 9.7561 CD320 0 genome.wustl.edu 37 19 8369983 8369983 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 8369983 8369983 C T SNP CD320 ENST00000301458 human ensembl 74_37 -1 known missense c.200 p.C67Y 0.955 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors CD320 HGNC ENSG00000167775 35 0 0 15 8 34.7826 HNRNPM 0 genome.wustl.edu 37 19 8550759 8550759 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 8550759 8550759 G A SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.1447 p.V483M 0.544 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 125 0 0 113 27 19.2857 MBD3L1 0 genome.wustl.edu 37 19 8953929 8953929 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 8953929 8953929 A T SNP MBD3L1 ENST00000305625 human ensembl 74_37 +1 known missense c.575 p.E192V 0.000 NULL NULL - no_errors MBD3L1 HGNC ENSG00000170948 27 0 0 14 5 26.3158 MUC16 0 genome.wustl.edu 37 19 8993496 8993496 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 8993496 8993496 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.41593 p.R13865C 0.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 101 0 0 65 17 20.7317 MUC16 0 genome.wustl.edu 37 19 9000464 9000464 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 9000464 9000464 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.40520 p.T13507M 0.000 pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 96 0 0 66 23 25.8427 REV1 0 genome.wustl.edu 37 2 100055712 100055712 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 100055712 100055712 A G SNP REV1 ENST00000258428 human ensembl 74_37 -1 known silent c.564 p.S188 0.485 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 35 0 0 40 6 13.0435 IL18R1 0 genome.wustl.edu 37 2 102984300 102984300 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 102984300 102984300 G A SNP IL18R1 ENST00000233957 human ensembl 74_37 +1 known missense c.74 p.R25H 0.034 smart_Ig_sub pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL18R1 HGNC ENSG00000115604 31 0 0 23 4 14.8148 SLC9A4 0 genome.wustl.edu 37 2 103136407 103136407 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 103136407 103136407 G A SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.1811 p.R604Q 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 75 0 0 43 12 21.8182 POU3F3 0 genome.wustl.edu 37 2 105473227 105473227 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 105473227 105473227 C T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.1259 p.A420V 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 50 0 0 29 11 27.5 RANBP2 0 genome.wustl.edu 37 2 109381510 109381510 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 109381510 109381510 G A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.4515 p.P1505 0.061 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 125 0 0 94 30 24.1935 RANBP2 0 genome.wustl.edu 37 2 109383207 109383207 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 109383207 109383207 T C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.6212 p.L2071P 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 426 0 0 363 69 15.9722 MERTK 0 genome.wustl.edu 37 2 112767592 112767592 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 112767592 112767592 C T SNP MERTK ENST00000295408 human ensembl 74_37 +1 known silent c.2028 p.Y676 0.814 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 147 0 0 93 38 29.0076 POLR1B 0 genome.wustl.edu 37 2 113332867 113332867 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 113332867 113332867 C T SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known missense c.3083 p.A1028V 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 95 0 0 58 21 26.5823 PAX8 0 genome.wustl.edu 37 2 113993004 113993004 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 113993004 113993004 A G SNP PAX8 ENST00000429538 human ensembl 74_37 -1 known missense c.1054 p.Y352H 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX8 HGNC ENSG00000125618 13 0 0 18 2 10 PAX8 0 genome.wustl.edu 37 2 114004377 114004377 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 114004377 114004377 G A SNP PAX8 ENST00000429538 human ensembl 74_37 -1 known missense c.145 p.R49C 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX8 HGNC ENSG00000125618 93 0 0 50 16 24.2424 MARCO 0 genome.wustl.edu 37 2 119727888 119727888 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 119727888 119727888 G A SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.398 p.R133Q 0.001 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 26 0 0 11 6 35.2941 MYO7B 0 genome.wustl.edu 37 2 128341722 128341722 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 128341722 128341722 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.1369 p.A457T 0.986 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 35 0 0 11 8 42.1053 MYO7B 0 genome.wustl.edu 37 2 128366301 128366301 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 128366301 128366301 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.2662 p.A888T 0.002 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 34 0 0 16 6 27.2727 WDR33 0 genome.wustl.edu 37 2 128520648 128520648 + Nonsense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 128520648 128520648 T A SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known nonsense c.712 p.R238* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 82 0 0 71 23 24.4681 SAP130 0 genome.wustl.edu 37 2 128757640 128757640 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 128757640 128757640 C T SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known silent c.1176 p.A392 0.998 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 80 0 0 42 25 37.3134 LOC440905 0 genome.wustl.edu 37 2 130748038 130748038 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 130748038 130748038 G A SNP LOC440905 ENST00000440931 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 27 0 0 16 8 33.3333 TUBA3E 0 genome.wustl.edu 37 2 130951527 130951527 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 130951527 130951527 G A SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known silent c.888 p.F296 0.990 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 219 1 0.454545 130 29 18.239 PTPN18 0 genome.wustl.edu 37 2 131130796 131130796 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 131130796 131130796 A G SNP PTPN18 ENST00000175756 human ensembl 74_37 +1 known silent c.1382 p.*461 0.921 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN18 HGNC ENSG00000072135 14 0 0 11 3 21.4286 CFC1 0 genome.wustl.edu 37 2 131356243 131356243 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 131356243 131356243 C T SNP CFC1 ENST00000259216 human ensembl 74_37 -1 known silent c.219 p.P73 0.000 NULL pfam_Cryptic/Cripto_CFC-dom,pfscan_EG-like_dom - no_errors CFC1 HGNC ENSG00000136698 144 0 0 111 14 11.2 TUBA3D 0 genome.wustl.edu 37 2 132237951 132237951 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 132237951 132237951 C T SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known missense c.685 p.R229C 1.000 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 244 0 0 128 37 22.4242 NCKAP5 0 genome.wustl.edu 37 2 133538706 133538706 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 133538706 133538706 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.4968 p.I1656 0.001 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 31 0 0 21 7 25 LRP1B 0 genome.wustl.edu 37 2 141751585 141751585 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 141751585 141751585 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2623 p.D875N 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 76 0 0 62 15 19.4805 TPO 0 genome.wustl.edu 37 2 1418179 1418179 + Splice_Site SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 1418179 1418179 G T SNP TPO ENST00000329066 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.130 - - - no_errors TPO HGNC ENSG00000115705 31 0 0 17 6 26.087 NEB 0 genome.wustl.edu 37 2 152394412 152394412 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 152394412 152394412 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known nonsense c.21076 p.R7026* 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 43 0 0 29 10 25.641 CACNB4 0 genome.wustl.edu 37 2 152732944 152732944 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 152732944 152732944 C T SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known missense c.517 p.G173R 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 34 0 0 23 5 17.8571 NBAS 0 genome.wustl.edu 37 2 15415814 15415814 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 15415814 15415814 T C SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.5518 p.M1840V 0.954 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 86 0 0 74 28 27.451 TPO 0 genome.wustl.edu 37 2 1546296 1546296 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 1546296 1546296 C T SNP TPO ENST00000337415 human ensembl 74_37 +1 known missense c.2722 p.R908C 0.010 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 22 0 0 14 6 30 NBAS 0 genome.wustl.edu 37 2 15601418 15601418 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 15601418 15601418 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.2246 p.G749D 1.000 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 93 0 0 53 14 20.8955 UPP2 0 genome.wustl.edu 37 2 158974403 158974403 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 158974403 158974403 G A SNP UPP2 ENST00000409859 human ensembl 74_37 +1 known missense c.578 p.R193Q 0.014 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 123 0 0 88 17 16.1905 ITGB6 0 genome.wustl.edu 37 2 161052032 161052032 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 161052032 161052032 G A SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known silent c.441 p.D147 0.013 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 77 0 0 67 16 19.2771 CSRNP3 0 genome.wustl.edu 37 2 166536156 166536156 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 166536156 166536156 A G SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1651 p.S551G 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 137 0 0 123 28 18.543 XIRP2 0 genome.wustl.edu 37 2 168101881 168101881 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 168101881 168101881 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known nonsense c.3979 p.R1327* 0.997 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 78 0 0 69 17 19.7674 XIRP2 0 genome.wustl.edu 37 2 168102837 168102837 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 168102837 168102837 T C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.4935 p.T1645 0.999 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 51 0 0 45 15 25 GORASP2 0 genome.wustl.edu 37 2 171822431 171822431 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 171822431 171822431 C T SNP GORASP2 ENST00000452526 human ensembl 74_37 +1 known silent c.1186 p.L396 1.000 NULL pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 120 0 0 59 16 21.3333 KIAA1715 0 genome.wustl.edu 37 2 176857133 176857133 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 176857133 176857133 A G SNP KIAA1715 ENST00000544803 human ensembl 74_37 -1 known missense c.83 p.L28S 1.000 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 28 0 0 22 8 26.6667 RAD51AP2 0 genome.wustl.edu 37 2 17698684 17698684 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 17698684 17698684 T C SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known silent c.999 p.S333 0.777 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 47 0 0 50 11 18.0328 HOXD1 0 genome.wustl.edu 37 2 177053568 177053568 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 177053568 177053568 C T SNP HOXD1 ENST00000331462 human ensembl 74_37 +1 known silent c.39 p.S13 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD1 HGNC ENSG00000128645 21 0 0 12 6 33.3333 OSBPL6 0 genome.wustl.edu 37 2 179214012 179214012 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179214012 179214012 C T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1061 p.A354V 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 198 0 0 166 41 19.8068 TTN-AS1 0 genome.wustl.edu 37 2 179392888 179392888 + RNA SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179392888 179392888 C G SNP TTN-AS1 ENST00000592182 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors TTN-AS1 HGNC ENSG00000237298 13 0 0 11 5 31.25 TTN 0 genome.wustl.edu 37 2 179409151 179409151 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179409151 179409151 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.88101 p.Y29367 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 68 0 0 65 16 19.7531 TTN 0 genome.wustl.edu 37 2 179410269 179410269 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179410269 179410269 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.87864 p.R29288 0.662 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 352 0 0 272 67 19.764 TTN 0 genome.wustl.edu 37 2 179410765 179410765 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179410765 179410765 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.87494 p.Q29165R 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 53 0 0 41 9 18 TTN 0 genome.wustl.edu 37 2 179413514 179413514 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179413514 179413514 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.85135 p.I28379V 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 83 0 0 55 16 22.5352 TTN 0 genome.wustl.edu 37 2 179414314 179414314 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179414314 179414314 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.84431 p.V28144A 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 104 0 0 78 16 17.0213 TTN 0 genome.wustl.edu 37 2 179433561 179433561 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179433561 179433561 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.69594 p.E23198 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 76 0 0 60 20 25 TTN 0 genome.wustl.edu 37 2 179466820 179466820 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179466820 179466820 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.47474 p.G15825D 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 75 0 0 48 15 23.8095 TTN 0 genome.wustl.edu 37 2 179566903 179566903 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179566903 179566903 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.26771 p.T8924M 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 57 0 0 40 15 27.2727 TTN 0 genome.wustl.edu 37 2 179650794 179650794 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179650794 179650794 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.2151 p.P717 0.955 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 60 0 0 39 10 20.4082 TTN 0 genome.wustl.edu 37 2 179666974 179666974 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179666974 179666974 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.186 p.R62 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 105 0 0 61 18 22.7848 CCDC141 0 genome.wustl.edu 37 2 179734013 179734013 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179734013 179734013 T C SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.2225 p.Q742R 0.593 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 44 0 0 34 9 20.9302 ITGA4 0 genome.wustl.edu 37 2 182322503 182322503 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 182322503 182322503 C T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.122 p.A41V 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 33 0 0 24 7 22.5806 ITGA4 0 genome.wustl.edu 37 2 182360664 182360664 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 182360664 182360664 G T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.1540 p.V514F 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 105 0 0 110 14 11.2903 ZNF804A 0 genome.wustl.edu 37 2 185802533 185802533 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 185802533 185802533 G A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2410 p.A804T 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 55 0 0 38 7 15.5556 FSIP2 0 genome.wustl.edu 37 2 186673253 186673253 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 186673253 186673253 A G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.19487 p.E6496G 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 52 0 0 33 8 19.5122 ITGAV 0 genome.wustl.edu 37 2 187523819 187523819 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 187523819 187523819 C T SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.1774 p.R592W 0.535 pfam_Integrin_alpha-2,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 84 0 0 59 16 21.3333 MYT1L 0 genome.wustl.edu 37 2 1890322 1890322 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 1890322 1890322 G T SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.2700 p.S900 0.974 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 41 0 0 34 5 12.8205 GULP1 0 genome.wustl.edu 37 2 189348173 189348173 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 189348173 189348173 A G SNP GULP1 ENST00000359135 human ensembl 74_37 +1 known missense c.44 p.H15R 1.000 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors GULP1 HGNC ENSG00000144366 27 0 0 24 9 27.2727 SLC40A1 0 genome.wustl.edu 37 2 190430308 190430308 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 190430308 190430308 G A SNP SLC40A1 ENST00000261024 human ensembl 74_37 -1 known nonsense c.532 p.R178* 0.887 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 72 0 0 78 13 14.2857 SDPR 0 genome.wustl.edu 37 2 192700907 192700907 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 192700907 192700907 C T SNP SDPR ENST00000304141 human ensembl 74_37 -1 known silent c.1020 p.A340 0.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 180 0 0 118 33 21.8543 SDPR 0 genome.wustl.edu 37 2 192711619 192711619 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 192711619 192711619 G A SNP SDPR ENST00000304141 human ensembl 74_37 -1 known silent c.33 p.F11 0.989 NULL NULL - no_errors SDPR HGNC ENSG00000168497 90 0 0 57 18 24 OSR1 0 genome.wustl.edu 37 2 19552979 19552979 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 19552979 19552979 C T SNP OSR1 ENST00000272223 human ensembl 74_37 -1 known silent c.588 p.T196 0.439 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 133 0 0 69 16 18.8235 CCDC150 0 genome.wustl.edu 37 2 197597197 197597197 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 197597197 197597197 T C SNP CCDC150 ENST00000389175 human ensembl 74_37 +1 known missense c.3217 p.S1073P 0.001 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 134 0 0 100 23 18.6992 C2orf66 0 genome.wustl.edu 37 2 197672223 197672223 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 197672223 197672223 C T SNP C2orf66 ENST00000342506 human ensembl 74_37 -1 known missense c.298 p.A100T 1.000 NULL NULL - no_errors C2orf66 HGNC ENSG00000187944 118 0 0 80 35 30.4348 RFTN2 0 genome.wustl.edu 37 2 198498533 198498533 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 198498533 198498533 G A SNP RFTN2 ENST00000295049 human ensembl 74_37 -1 known silent c.627 p.S209 0.885 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 121 0 0 115 37 24.3421 FAM126B 0 genome.wustl.edu 37 2 201846041 201846041 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 201846041 201846041 C T SNP FAM126B ENST00000418596 human ensembl 74_37 -1 known silent c.1545 p.K515 1.000 NULL pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 131 0 0 97 36 27.0677 ABI2 0 genome.wustl.edu 37 2 204267367 204267367 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 204267367 204267367 T A SNP ABI2 ENST00000295851 human ensembl 74_37 +1 known missense c.1102 p.S368T 1.000 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI2 HGNC ENSG00000138443 71 0 0 52 11 17.4603 ZDBF2 0 genome.wustl.edu 37 2 207169506 207169506 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 207169506 207169506 C A SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.254 p.A85D 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 56 0 0 50 15 23.0769 ADAM23 0 genome.wustl.edu 37 2 207436508 207436508 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 207436508 207436508 G A SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.1624 p.D542N 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 66 0 0 37 23 38.3333 PTH2R 0 genome.wustl.edu 37 2 209308074 209308074 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 209308074 209308074 C T SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known nonsense c.511 p.R171* 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 55 0 0 50 13 20.6349 VWC2L 0 genome.wustl.edu 37 2 215279080 215279080 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 215279080 215279080 G A SNP VWC2L ENST00000312504 human ensembl 74_37 +1 known missense c.163 p.D55N 1.000 smart_VWF_C smart_VWF_C,pfscan_VWF_C - no_errors VWC2L HGNC ENSG00000174453 42 0 0 23 6 20.6897 ABCA12 0 genome.wustl.edu 37 2 215843555 215843555 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 215843555 215843555 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.4950 p.Y1650 0.968 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 109 0 0 72 19 20.8791 TNS1 0 genome.wustl.edu 37 2 218713378 218713378 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 218713378 218713378 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.1487 p.R496Q 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 87 0 0 66 20 23.2558 CXCR1 0 genome.wustl.edu 37 2 219029505 219029505 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 219029505 219029505 G A SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known missense c.430 p.R144C 0.528 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 77 0 0 45 13 22.4138 PNKD 0 genome.wustl.edu 37 2 219209550 219209550 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 219209550 219209550 A G SNP PNKD ENST00000273077 human ensembl 74_37 +1 known missense c.1004 p.E335G 1.000 tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors PNKD HGNC ENSG00000127838 275 0 0 172 59 25.5411 SLC11A1 0 genome.wustl.edu 37 2 219251369 219251369 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 219251369 219251369 C T SNP SLC11A1 ENST00000354352 human ensembl 74_37 +1 known missense c.479 p.P160L 0.000 NULL pfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 37 0 0 25 3 10.7143 VIL1 0 genome.wustl.edu 37 2 219295597 219295597 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 219295597 219295597 C T SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known silent c.1098 p.S366 0.991 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 33 0 0 18 8 30.7692 ZNF142 0 genome.wustl.edu 37 2 219509452 219509452 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 219509452 219509452 T C SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.1787 p.H596R 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 77 0 0 50 11 18.0328 CCDC108 0 genome.wustl.edu 37 2 219868992 219868992 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 219868992 219868992 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.5237 p.P1746L 0.001 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 156 0 0 115 40 25.8065 ASIC4 0 genome.wustl.edu 37 2 220397620 220397620 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 220397620 220397620 G A SNP ASIC4 ENST00000358078 human ensembl 74_37 +1 novel missense c.1415 p.C472Y 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 91 0 0 51 32 38.5542 OBSL1 0 genome.wustl.edu 37 2 220416499 220416499 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 220416499 220416499 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.5435 p.R1812H 1.000 pfam_Ig_V-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 28 0 0 21 7 25 OBSL1 0 genome.wustl.edu 37 2 220432923 220432923 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 220432923 220432923 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.1136 p.R379Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 35 0 0 32 7 17.9487 DOCK10 0 genome.wustl.edu 37 2 225638013 225638013 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 225638013 225638013 G A SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.6065 p.S2022L 0.978 pfam_DOCK_C,superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 51 0 0 40 12 23.0769 SP140 0 genome.wustl.edu 37 2 231120198 231120198 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 231120198 231120198 T C SNP SP140 ENST00000392045 human ensembl 74_37 +1 known silent c.1191 p.D397 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 82 0 0 62 18 22.5 HDAC4 0 genome.wustl.edu 37 2 240078381 240078381 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 240078381 240078381 C T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.700 p.D234N 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 100 0 0 59 16 21.3333 OR6B3 0 genome.wustl.edu 37 2 240984767 240984767 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 240984767 240984767 G A SNP OR6B3 ENST00000319423 human ensembl 74_37 -1 known silent c.723 p.C241 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B3 HGNC ENSG00000178586 89 0 0 59 22 27.1605 PASK 0 genome.wustl.edu 37 2 242047655 242047655 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 242047655 242047655 A G SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.3615 p.F1205 0.904 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_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 117 0 0 69 14 16.8675 ANO7 0 genome.wustl.edu 37 2 242128052 242128052 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 242128052 242128052 C T SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.26 p.A9V 0.013 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 39 0 0 37 10 21.2766 ASXL2 0 genome.wustl.edu 37 2 25991713 25991713 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 25991713 25991713 T G SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known missense c.529 p.K177Q 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 137 0 0 84 32 27.5862 DRC1 0 genome.wustl.edu 37 2 26671649 26671649 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 26671649 26671649 T C SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.1487 p.L496P 1.000 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 177 0 0 111 20 15.2672 OTOF 0 genome.wustl.edu 37 2 26683839 26683839 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 26683839 26683839 T C SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.5593 p.T1865A 1.000 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 46 0 0 36 15 29.4118 OTOF 0 genome.wustl.edu 37 2 26693574 26693574 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 26693574 26693574 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3910 p.E1304K 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 73 0 0 55 11 16.6667 C2orf53 0 genome.wustl.edu 37 2 27361028 27361028 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 27361028 27361028 C T SNP C2orf53 ENST00000335524 human ensembl 74_37 -1 known missense c.170 p.R57H 0.000 NULL NULL - no_errors C2orf53 HGNC ENSG00000186143 31 0 0 29 3 9.375 CAD 0 genome.wustl.edu 37 2 27459279 27459279 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 27459279 27459279 G T SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.4202 p.G1401V 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 119 0 0 88 24 21.4286 UCN 0 genome.wustl.edu 37 2 27530432 27530432 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 27530432 27530432 C T SNP UCN ENST00000296099 human ensembl 74_37 -1 known missense c.332 p.R111H 1.000 pfam_Corticotropin-releasing_factor,smart_Corticotropin-releasing_factor,prints_Urocortin_CRF pfam_Corticotropin-releasing_factor,smart_Corticotropin-releasing_factor,prints_Urocortin_CRF - no_errors UCN HGNC ENSG00000163794 54 0 0 37 12 24.4898 IFT172 0 genome.wustl.edu 37 2 27684208 27684208 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 27684208 27684208 C A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.2370 p.E790D 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 136 0 0 53 18 25.3521 CLIP4 0 genome.wustl.edu 37 2 29366647 29366647 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 29366647 29366647 G A SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known missense c.721 p.A241T 0.996 NULL pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 116 0 0 83 32 27.8261 GALNT14 0 genome.wustl.edu 37 2 31215790 31215790 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 31215790 31215790 G A SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known silent c.213 p.D71 0.569 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 81 0 0 43 17 28.3333 COLEC11 0 genome.wustl.edu 37 2 3691067 3691067 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 3691067 3691067 C A SNP COLEC11 ENST00000418971 human ensembl 74_37 +1 known missense c.404 p.A135D 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 62 0 0 63 15 19.2308 VIT 0 genome.wustl.edu 37 2 37008909 37008909 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 37008909 37008909 A G SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.842 p.D281G 0.860 NULL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 86 0 0 80 5 5.88235 CEBPZ 0 genome.wustl.edu 37 2 37450518 37450518 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 37450518 37450518 G A SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known missense c.1676 p.T559M 0.000 pfam_CCAAT-binding_factor,superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 67 0 0 47 21 30.8824 SLC3A1 0 genome.wustl.edu 37 2 44539884 44539884 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 44539884 44539884 T C SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known missense c.1492 p.Y498H 0.906 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 45 0 0 35 11 23.913 EPAS1 0 genome.wustl.edu 37 2 46611727 46611727 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 46611727 46611727 C T SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known silent c.2541 p.N847 1.000 pfam_HIF-1_TAD_C pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 99 0 0 47 17 26.5625 FBXO11 0 genome.wustl.edu 37 2 48050427 48050427 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 48050427 48050427 T C SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known missense c.1471 p.T491A 1.000 superfamily_F-box_dom,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 38 0 0 34 11 24.4444 PPP1R21 0 genome.wustl.edu 37 2 48701860 48701860 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 48701860 48701860 C T SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known missense c.1127 p.A376V 1.000 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 80 0 0 76 16 17.3913 PSME4 0 genome.wustl.edu 37 2 54127128 54127128 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 54127128 54127128 C T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known silent c.3312 p.A1104 0.862 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 65 0 0 58 15 20.5479 PSME4 0 genome.wustl.edu 37 2 54150493 54150493 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 54150493 54150493 G A SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.1873 p.R625C 0.951 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 33 0 0 14 3 17.6471 REL 0 genome.wustl.edu 37 2 61118941 61118941 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 61118941 61118941 G A SNP REL ENST00000295025 human ensembl 74_37 +1 known missense c.134 p.R45Q 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors REL HGNC ENSG00000162924 120 0 0 57 29 33.7209 PROKR1 0 genome.wustl.edu 37 2 68882559 68882559 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 68882559 68882559 G A SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known missense c.1033 p.V345I 0.998 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 75 0 0 45 16 26.2295 ADD2 0 genome.wustl.edu 37 2 70923451 70923451 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 70923451 70923451 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.400 p.R134W 1.000 superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 33 0 0 24 4 14.2857 NAT8 0 genome.wustl.edu 37 2 73868563 73868563 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 73868563 73868563 C T SNP NAT8 ENST00000272425 human ensembl 74_37 -1 known missense c.193 p.V65M 0.000 pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8 HGNC ENSG00000144035 145 0 0 116 7 5.69106 LBX2 0 genome.wustl.edu 37 2 74725186 74725186 + Silent SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 74725186 74725186 G C SNP LBX2 ENST00000377566 human ensembl 74_37 -1 known silent c.465 p.R155 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors LBX2 HGNC ENSG00000179528 69 0 0 51 13 20.3125 LOXL3 0 genome.wustl.edu 37 2 74777345 74777345 + Silent SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 74777345 74777345 G C SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known silent c.444 p.R148 1.000 superfamily_Srcr_rcpt-rel pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 143 0 0 97 24 19.8347 CTNNA2 0 genome.wustl.edu 37 2 80101333 80101333 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 80101333 80101333 C T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.819 p.N273 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 77 0 0 50 11 18.0328 CTNNA2 0 genome.wustl.edu 37 2 80801404 80801404 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 80801404 80801404 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.1960 p.V654I 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 136 0 0 78 36 31.5789 FUNDC2P2 0 genome.wustl.edu 37 2 84517914 84517914 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 84517914 84517914 G A SNP FUNDC2P2 ENST00000331369 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors FUNDC2P2 HGNC ENSG00000182814 24 0 0 12 9 42.8571 LOC101929518 0 genome.wustl.edu 37 2 95539209 95539209 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 95539209 95539209 C T SNP LOC101929518 ENST00000568768 human ensembl 74_37 -1 known rna NULL NULL 0.039 - - - no_errors AC097374.2 Clone_based_vega_gene ENSG00000259848 54 0 0 16 5 23.8095 PROM2 0 genome.wustl.edu 37 2 95952569 95952569 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 95952569 95952569 C T SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known silent c.2058 p.S686 0.000 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 48 0 0 29 4 12.1212 CIAO1 0 genome.wustl.edu 37 2 96936850 96936850 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 96936850 96936850 T C SNP CIAO1 ENST00000488633 human ensembl 74_37 +1 known missense c.781 p.C261R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIAO1 HGNC ENSG00000144021 103 1 0.961538 65 21 24.4186 SEMA4C 0 genome.wustl.edu 37 2 97530708 97530708 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 97530708 97530708 A G SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known missense c.779 p.V260A 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 9 0 0 4 3 42.8571 ANKRD36 0 genome.wustl.edu 37 2 97866095 97866095 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 97866095 97866095 T C SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.2780 p.L927S 0.017 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 41 0 0 37 7 15.9091 PSMF1 0 genome.wustl.edu 37 20 1115685 1115685 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 1115685 1115685 G A SNP PSMF1 ENST00000484891 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors PSMF1 HGNC ENSG00000125818 24 0 0 19 5 20.8333 SEL1L2 0 genome.wustl.edu 37 20 13847354 13847354 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 13847354 13847354 A G SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known silent c.1398 p.A466 0.095 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 119 0 0 111 27 19.5652 FLRT3 0 genome.wustl.edu 37 20 14306860 14306860 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 14306860 14306860 T C SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known silent c.1293 p.L431 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 160 1 0.621118 118 38 24.359 KIF16B 0 genome.wustl.edu 37 20 16488665 16488665 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 16488665 16488665 C A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.637 p.A213S 0.968 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 247 0 0 155 33 17.5532 OTOR 0 genome.wustl.edu 37 20 16729553 16729553 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 16729553 16729553 C A SNP OTOR ENST00000246081 human ensembl 74_37 +1 known missense c.157 p.P53T 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors OTOR HGNC ENSG00000125879 48 0 0 32 7 17.9487 RRBP1 0 genome.wustl.edu 37 20 17614161 17614161 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 17614161 17614161 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.2554 p.R852W 1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 78 0 0 47 14 22.9508 ZNF133 0 genome.wustl.edu 37 20 18297204 18297204 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 18297204 18297204 G A SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.1718 p.R573Q 0.023 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF133 HGNC ENSG00000125846 62 0 0 48 16 25 RBBP9 0 genome.wustl.edu 37 20 18477806 18477806 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 18477806 18477806 A C SNP RBBP9 ENST00000337227 human ensembl 74_37 -1 known silent c.6 p.A2 0.870 NULL pfam_DUF1234_Hydrolase - no_errors RBBP9 HGNC ENSG00000089050 39 0 0 19 10 34.4828 SSTR4 0 genome.wustl.edu 37 20 23016551 23016551 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 23016551 23016551 G A SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.431 p.R144H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 107 0 0 89 29 24.5763 THBD 0 genome.wustl.edu 37 20 23029062 23029062 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 23029062 23029062 G A SNP THBD ENST00000377103 human ensembl 74_37 -1 known silent c.1080 p.G360 0.779 pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Thrombomodulin pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 85 0 0 46 20 30.303 GZF1 0 genome.wustl.edu 37 20 23346139 23346139 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 23346139 23346139 C T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known silent c.1119 p.S373 0.991 pfscan_Znf_C2H2 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 GZF1 HGNC ENSG00000125812 103 0 0 75 17 18.4783 GZF1 0 genome.wustl.edu 37 20 23350333 23350333 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 23350333 23350333 C T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known silent c.1740 p.C580 0.734 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 GZF1 HGNC ENSG00000125812 103 0 0 78 25 24.2718 NINL 0 genome.wustl.edu 37 20 25481580 25481580 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 25481580 25481580 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.928 p.R310C 0.270 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 55 0 0 22 11 33.3333 TMC2 0 genome.wustl.edu 37 20 2616615 2616615 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 2616615 2616615 C T SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known nonsense c.2350 p.R784* 0.993 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 59 0 0 53 10 15.873 PTPRA 0 genome.wustl.edu 37 20 3018724 3018724 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 3018724 3018724 A G SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.2387 p.Y796C 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 72 0 0 66 11 14.2857 MYLK2 0 genome.wustl.edu 37 20 30408301 30408301 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 30408301 30408301 G C SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known missense c.425 p.G142A 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK2 HGNC ENSG00000101306 65 0 0 37 15 28.8462 OXT 0 genome.wustl.edu 37 20 3053040 3053040 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 3053040 3053040 G A SNP OXT ENST00000217386 human ensembl 74_37 +1 known silent c.354 p.A118 0.002 pirsf_Neurhyp_horm,superfamily_Neurhyp_horm pirsf_Neurhyp_horm,pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,prints_Neurhyp_horm - no_errors OXT HGNC ENSG00000101405 69 0 0 49 7 12.5 HCK 0 genome.wustl.edu 37 20 30689272 30689272 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 30689272 30689272 C T SNP HCK ENST00000375852 human ensembl 74_37 +1 known silent c.1531 p.L511 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 28 0 0 19 8 29.6296 ASXL1 0 genome.wustl.edu 37 20 31021647 31021647 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 31021647 31021647 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.1646 p.R549H 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 179 0 0 105 31 22.7941 CDK5RAP1 0 genome.wustl.edu 37 20 31946818 31946818 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 31946818 31946818 C T SNP CDK5RAP1 ENST00000481964 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CDK5RAP1 HGNC ENSG00000101391 64 0 0 55 15 21.4286 ZNF341 0 genome.wustl.edu 37 20 32354674 32354674 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 32354674 32354674 C T SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known missense c.1240 p.P414S 0.044 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 208 0 0 148 54 26.7327 MYH7B 0 genome.wustl.edu 37 20 33582119 33582119 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 33582119 33582119 C T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.2741 p.A914V 0.716 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 84 0 0 54 22 28.9474 MYH7B 0 genome.wustl.edu 37 20 33589767 33589767 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 33589767 33589767 C A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.5819 p.T1940N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 80 0 0 69 8 10.3896 NFS1 0 genome.wustl.edu 37 20 34286424 34286424 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 34286424 34286424 A G SNP NFS1 ENST00000374092 human ensembl 74_37 -1 known silent c.186 p.D62 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase - no_errors NFS1 HGNC ENSG00000244005 103 0 0 66 23 25.8427 DLGAP4 0 genome.wustl.edu 37 20 35060240 35060240 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 35060240 35060240 C T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known silent c.120 p.F40 0.928 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 89 0 0 45 16 26.2295 DLGAP4 0 genome.wustl.edu 37 20 35128744 35128744 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 35128744 35128744 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.2242 p.G748S 0.371 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 67 0 0 54 16 22.8571 NDRG3 0 genome.wustl.edu 37 20 35288785 35288785 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 35288785 35288785 G A SNP NDRG3 ENST00000349004 human ensembl 74_37 -1 known silent c.813 p.V271 1.000 pfam_Ndr pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC ENSG00000101079 61 0 0 66 13 16.4557 KIAA1755 0 genome.wustl.edu 37 20 36868110 36868110 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 36868110 36868110 T C SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.1567 p.K523E 0.977 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 63 0 0 43 9 17.3077 DHX35 0 genome.wustl.edu 37 20 37634851 37634851 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 37634851 37634851 C T SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known silent c.1074 p.I358 0.072 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 372 0 0 259 76 22.6866 SMOX 0 genome.wustl.edu 37 20 4155695 4155695 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 4155695 4155695 C T SNP SMOX ENST00000484515 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors SMOX HGNC ENSG00000088826 164 0 0 82 20 19.6078 TTPAL 0 genome.wustl.edu 37 20 43109069 43109069 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 43109069 43109069 G A SNP TTPAL ENST00000262605 human ensembl 74_37 +1 known missense c.430 p.V144I 0.999 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 157 0 0 88 35 28.4553 SERINC3 0 genome.wustl.edu 37 20 43129883 43129883 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 43129883 43129883 C T SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known missense c.1114 p.V372I 0.709 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 124 0 0 61 17 21.7949 SEMG1 0 genome.wustl.edu 37 20 43836312 43836312 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 43836312 43836312 G T SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known missense c.374 p.R125M 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 105 0 0 85 11 11.4583 ZSWIM3 0 genome.wustl.edu 37 20 44505588 44505588 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 44505588 44505588 C T SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known nonsense c.391 p.Q131* 0.000 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 71 0 0 55 15 21.4286 EYA2 0 genome.wustl.edu 37 20 45618724 45618724 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 45618724 45618724 T C SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known silent c.75 p.A25 0.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 58 0 0 42 9 17.6471 EYA2 0 genome.wustl.edu 37 20 45702897 45702897 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 45702897 45702897 C T SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known missense c.584 p.S195L 0.974 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 164 0 0 88 34 27.8689 KCNB1 0 genome.wustl.edu 37 20 47991404 47991404 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 47991404 47991404 G A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.693 p.H231 0.992 prints_K_chnl pfam_K_chnl_volt-dep_Kv2,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_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 70 0 0 31 15 32.6087 BCAS1 0 genome.wustl.edu 37 20 52645510 52645510 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 52645510 52645510 G A SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known silent c.144 p.V48 0.688 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 38 0 0 23 7 23.3333 DOK5 0 genome.wustl.edu 37 20 53260110 53260110 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 53260110 53260110 C T SNP DOK5 ENST00000262593 human ensembl 74_37 +1 known silent c.849 p.R283 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC ENSG00000101134 54 0 0 25 8 24.2424 FAM209A 0 genome.wustl.edu 37 20 55100071 55100071 + Silent SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 55100071 55100071 G C SNP FAM209A ENST00000371328 human ensembl 74_37 +1 known silent c.207 p.P69 0.228 NULL NULL - no_errors FAM209A HGNC ENSG00000124103 128 0 0 108 22 16.9231 RAB22A 0 genome.wustl.edu 37 20 56929305 56929305 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 56929305 56929305 A G SNP RAB22A ENST00000244040 human ensembl 74_37 +1 known silent c.471 p.E157 1.000 pfam_Small_GTPase,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 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB22A HGNC ENSG00000124209 23 0 0 21 7 25 PPP1R3D 0 genome.wustl.edu 37 20 58514222 58514222 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 58514222 58514222 G A SNP PPP1R3D ENST00000370996 human ensembl 74_37 -1 known silent c.765 p.F255 0.994 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3D HGNC ENSG00000132825 68 0 0 42 9 17.6471 PPP1R3D 0 genome.wustl.edu 37 20 58514292 58514292 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 58514292 58514292 G A SNP PPP1R3D ENST00000370996 human ensembl 74_37 -1 known missense c.695 p.T232M 0.000 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3D HGNC ENSG00000132825 79 0 0 38 19 33.3333 CDH4 0 genome.wustl.edu 37 20 60504830 60504830 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 60504830 60504830 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.2169 p.G723 0.090 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 108 0 0 59 19 24.359 FERMT1 0 genome.wustl.edu 37 20 6096601 6096601 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 6096601 6096601 C G SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known missense c.242 p.G81A 1.000 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 78 0 0 74 8 9.7561 COL9A3 0 genome.wustl.edu 37 20 61471962 61471962 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 61471962 61471962 G A SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.1933 p.G645R 0.997 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 27 0 0 26 3 10.3448 DIDO1 0 genome.wustl.edu 37 20 61541334 61541334 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 61541334 61541334 T C SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.878 p.H293R 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 70 0 0 54 14 20.5882 BIRC7 0 genome.wustl.edu 37 20 61870887 61870887 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 61870887 61870887 C T SNP BIRC7 ENST00000217169 human ensembl 74_37 +1 known missense c.827 p.A276V 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC7 HGNC ENSG00000101197 44 0 0 30 7 18.9189 RTEL1 0 genome.wustl.edu 37 20 62311267 62311267 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 62311267 62311267 C T SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.1103 p.S368L 0.919 superfamily_P-loop_NTPase pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 48 0 0 28 9 24.3243 ZGPAT 0 genome.wustl.edu 37 20 62366609 62366609 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 62366609 62366609 C T SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known nonsense c.1150 p.Q384* 0.981 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 23 0 0 11 9 45 SLC52A3 0 genome.wustl.edu 37 20 741784 741784 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 741784 741784 G A SNP SLC52A3 ENST00000217254 human ensembl 74_37 -1 known silent c.1296 p.C432 0.834 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 10 0 0 9 5 35.7143 TMX4 0 genome.wustl.edu 37 20 7980390 7980390 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 7980390 7980390 C T SNP TMX4 ENST00000246024 human ensembl 74_37 -1 known silent c.456 p.P152 0.284 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC ENSG00000125827 56 0 0 32 7 17.9487 ANKRD20A11P 0 genome.wustl.edu 37 21 15311620 15311620 + RNA SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 15311620 15311620 T A SNP ANKRD20A11P ENST00000428576 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 18 0 0 17 7 29.1667 ANKRD20A11P 0 genome.wustl.edu 37 21 15352130 15352130 + RNA SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 15352130 15352130 C G SNP ANKRD20A11P ENST00000344693 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 26 0 0 29 3 9.375 NCAM2 0 genome.wustl.edu 37 21 22696804 22696804 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 22696804 22696804 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.721 p.A241T 0.080 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 94 0 0 83 24 22.4299 KRTAP27-1 0 genome.wustl.edu 37 21 31709741 31709741 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 31709741 31709741 G A SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known silent c.246 p.P82 0.015 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 159 0 0 107 32 23.0216 SCAF4 0 genome.wustl.edu 37 21 33057745 33057745 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 33057745 33057745 A G SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known silent c.2262 p.P754 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 103 0 0 56 13 18.8406 IFNGR2 0 genome.wustl.edu 37 21 34793838 34793838 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 34793838 34793838 T C SNP IFNGR2 ENST00000290219 human ensembl 74_37 +1 known silent c.258 p.C86 0.284 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IFNGR2 HGNC ENSG00000159128 143 0 0 97 25 20.4918 SON 0 genome.wustl.edu 37 21 34927110 34927110 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 34927110 34927110 G A SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.5573 p.R1858H 0.996 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 87 0 0 45 19 29.6875 KCNE1 0 genome.wustl.edu 37 21 35821548 35821548 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 35821548 35821548 G T SNP KCNE1 ENST00000337385 human ensembl 74_37 -1 known missense c.385 p.P129T 0.000 NULL pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE1,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE1 HGNC ENSG00000180509 228 0 0 153 44 22.335 DOPEY2 0 genome.wustl.edu 37 21 37617519 37617519 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 37617519 37617519 C T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known nonsense c.3241 p.R1081* 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 71 0 0 41 18 30.5085 DOPEY2 0 genome.wustl.edu 37 21 37649359 37649359 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 37649359 37649359 G A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known silent c.5673 p.P1891 0.143 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 102 0 0 81 20 19.802 PSMG1 0 genome.wustl.edu 37 21 40550521 40550521 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 40550521 40550521 C T SNP PSMG1 ENST00000331573 human ensembl 74_37 -1 known missense c.509 p.R170Q 0.841 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 83 0 0 68 18 20.9302 PRDM15 0 genome.wustl.edu 37 21 43246337 43246337 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 43246337 43246337 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known silent c.2706 p.S902 0.026 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 165 0 0 85 27 24.1071 ABCG1 0 genome.wustl.edu 37 21 43702466 43702466 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 43702466 43702466 G A SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.1109 p.R370H 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 76 0 0 43 12 21.8182 AGPAT3 0 genome.wustl.edu 37 21 45379596 45379596 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 45379596 45379596 G A SNP AGPAT3 ENST00000291572 human ensembl 74_37 +1 known missense c.34 p.V12M 0.201 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT3 HGNC ENSG00000160216 128 0 0 73 18 19.7802 ICOSLG 0 genome.wustl.edu 37 21 45657004 45657004 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 45657004 45657004 T C SNP ICOSLG ENST00000344330 human ensembl 74_37 -1 known missense c.152 p.Y51C 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors ICOSLG HGNC ENSG00000160223 85 0 0 67 13 16.25 KRTAP10-4 0 genome.wustl.edu 37 21 45994801 45994801 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 45994801 45994801 C G SNP KRTAP10-4 ENST00000400374 human ensembl 74_37 +1 known missense c.1166 p.P389R 1.000 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 103 0 0 90 5 5.26316 ITGB2 0 genome.wustl.edu 37 21 46320286 46320286 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 46320286 46320286 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.846 p.N282 0.153 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 73 0 0 43 20 31.746 DIP2A 0 genome.wustl.edu 37 21 47966903 47966903 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 47966903 47966903 G A SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.2473 p.V825I 0.970 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 49 0 0 26 13 33.3333 SEPT5 0 genome.wustl.edu 37 22 19706100 19706100 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 19706100 19706100 C T SNP SEPT5 ENST00000490204 human ensembl 74_37 +1 putative rna NULL NULL 0.432 - - - no_errors SEPT5 HGNC ENSG00000184702 34 0 0 24 7 22.5806 TBX1 0 genome.wustl.edu 37 22 19752522 19752522 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 19752522 19752522 C T SNP TBX1 ENST00000329705 human ensembl 74_37 +1 known silent c.726 p.H242 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX1 HGNC ENSG00000184058 102 0 0 64 23 26.4368 PI4KA 0 genome.wustl.edu 37 22 21153546 21153546 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 21153546 21153546 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.1839 p.P613 0.054 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 54 0 0 39 9 18.75 LZTR1 0 genome.wustl.edu 37 22 21350083 21350083 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 21350083 21350083 C T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.1991 p.A664V 0.008 superfamily_BTB/POZ_fold pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 139 1 0.714286 94 28 22.9508 GGT2 0 genome.wustl.edu 37 22 21563126 21563126 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 21563126 21563126 G A SNP GGT2 ENST00000401924 human ensembl 74_37 -1 known missense c.1396 p.R466W 0.996 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT2 HGNC ENSG00000133475 30 0 0 12 6 33.3333 PRAME 0 genome.wustl.edu 37 22 22892728 22892728 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 22892728 22892728 G A SNP PRAME ENST00000398741 human ensembl 74_37 -1 known missense c.373 p.R125W 0.568 NULL NULL - no_errors PRAME HGNC ENSG00000185686 68 0 0 62 23 27.0588 GNAZ 0 genome.wustl.edu 37 22 23438485 23438485 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 23438485 23438485 C T SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known silent c.603 p.D201 0.834 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 201 0 0 108 30 21.7391 ENSG00000211683 0 genome.wustl.edu 37 22 23981114 23981114 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 23981114 23981114 G A SNP ENSG00000211683 ENST00000390329 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors KB-1572G7.3 Clone_based_vega_gene ENSG00000211683 23 0 0 24 9 27.2727 UPB1 0 genome.wustl.edu 37 22 24896163 24896163 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 24896163 24896163 C T SNP UPB1 ENST00000326010 human ensembl 74_37 +1 known nonsense c.193 p.Q65* 1.000 superfamily_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors UPB1 HGNC ENSG00000100024 105 0 0 58 18 23.6842 SNRPD3 0 genome.wustl.edu 37 22 24953655 24953655 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 24953655 24953655 G A SNP SNRPD3 ENST00000215829 human ensembl 74_37 +1 known missense c.13 p.V5M 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD3 HGNC ENSG00000100028 105 0 0 81 23 22.1154 KREMEN1 0 genome.wustl.edu 37 22 29533341 29533341 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 29533341 29533341 G A SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known missense c.643 p.A215T 1.000 pirsf_Kremen,superfamily_CUB_dom pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 145 0 0 77 24 23.7624 GAL3ST1 0 genome.wustl.edu 37 22 30951994 30951994 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 30951994 30951994 T C SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.218 p.Q73R 0.993 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 77 0 0 58 17 22.6667 OSBP2 0 genome.wustl.edu 37 22 31289783 31289783 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 31289783 31289783 T C SNP OSBP2 ENST00000496575 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors OSBP2 HGNC ENSG00000184792 18 0 0 10 6 37.5 EIF4ENIF1 0 genome.wustl.edu 37 22 31837925 31837925 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 31837925 31837925 C T SNP EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known missense c.2386 p.A796T 1.000 NULL pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 119 0 0 88 28 24.1379 SFI1 0 genome.wustl.edu 37 22 31969137 31969137 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 31969137 31969137 C T SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.859 p.R287W 0.000 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 78 0 0 65 16 19.7531 DEPDC5 0 genome.wustl.edu 37 22 32198810 32198810 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 32198810 32198810 G A SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.1067 p.R356Q 1.000 pfam_IML1 pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 112 0 0 79 30 27.5229 MCM5 0 genome.wustl.edu 37 22 35802621 35802621 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 35802621 35802621 C T SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.499 p.R167C 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase,prints_MCM5 pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 66 0 0 33 10 23.2558 MCM5 0 genome.wustl.edu 37 22 35806781 35806781 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 35806781 35806781 T C SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.797 p.M266T 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 124 0 0 86 28 24.5614 ELFN2 0 genome.wustl.edu 37 22 37769879 37769879 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 37769879 37769879 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1696 p.G566S 0.003 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 67 0 0 35 9 20.4545 GGA1 0 genome.wustl.edu 37 22 38016834 38016834 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 38016834 38016834 G A SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known missense c.442 p.D148N 1.000 superfamily_ENTH_VHS pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 133 0 0 72 24 25 BAIAP2L2 0 genome.wustl.edu 37 22 38484859 38484859 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 38484859 38484859 G A SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known silent c.1014 p.G338 0.368 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 12 0 0 13 3 18.75 BAIAP2L2 0 genome.wustl.edu 37 22 38505175 38505175 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 38505175 38505175 A G SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known missense c.92 p.V31A 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 53 0 0 50 14 21.875 APOBEC3B 0 genome.wustl.edu 37 22 39388427 39388427 + Nonsense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 39388427 39388427 C A SNP APOBEC3B ENST00000402182 human ensembl 74_37 +1 putative nonsense c.1407 p.C469* 0.000 NULL pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 25 0 0 14 5 26.3158 MKL1 0 genome.wustl.edu 37 22 40859226 40859226 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 40859226 40859226 C T SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known silent c.6 p.P2 0.863 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 208 0 0 136 39 22.2857 MCHR1 0 genome.wustl.edu 37 22 41077483 41077483 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 41077483 41077483 C A SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known missense c.820 p.L274I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 96 0 0 60 20 25 ZC3H7B 0 genome.wustl.edu 37 22 41738549 41738549 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 41738549 41738549 C A SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.1214 p.P405H 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 55 0 0 38 5 11.6279 ZC3H7B 0 genome.wustl.edu 37 22 41751493 41751493 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 41751493 41751493 G A SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known silent c.2055 p.G685 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 83 0 0 43 19 30.6452 ZC3H7B 0 genome.wustl.edu 37 22 41753409 41753409 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 41753409 41753409 T C SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known silent c.2910 p.A970 0.003 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 123 0 0 81 23 22.1154 NHP2L1 0 genome.wustl.edu 37 22 42071182 42071182 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 42071182 42071182 T C SNP NHP2L1 ENST00000215956 human ensembl 74_37 -1 known missense c.142 p.R48G 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_H/ACA_rnp_Nhp2_euk,prints_Ribosomal_L7Ae/L8/Nhp2,prints_Ribosomal_L7Ae_prok pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_H/ACA_rnp_Nhp2_euk,prints_Ribosomal_L7Ae/L8/Nhp2,prints_Ribosomal_L7Ae_prok - no_errors NHP2L1 HGNC ENSG00000100138 137 1 0.724638 77 20 20.6186 CYP2D6 0 genome.wustl.edu 37 22 42522581 42522581 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 42522581 42522581 G A SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.1489 p.R497C 0.946 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 32 0 0 17 5 22.7273 PACSIN2 0 genome.wustl.edu 37 22 43275116 43275116 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 43275116 43275116 G A SNP PACSIN2 ENST00000263246 human ensembl 74_37 -1 known silent c.966 p.D322 0.613 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 52 0 0 39 12 23.5294 EFCAB6 0 genome.wustl.edu 37 22 43933296 43933296 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 43933296 43933296 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.4009 p.V1337M 0.000 smart_EF_hand_dom pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 201 0 0 92 27 22.6891 PPARA 0 genome.wustl.edu 37 22 46627911 46627911 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 46627911 46627911 G A SNP PPARA ENST00000262735 human ensembl 74_37 +1 known missense c.934 p.G312R 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt 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,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARA HGNC ENSG00000186951 127 0 0 89 31 25.8333 ALG12 0 genome.wustl.edu 37 22 50301550 50301550 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 50301550 50301550 C T SNP ALG12 ENST00000330817 human ensembl 74_37 -1 known missense c.811 p.G271S 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 91 0 0 63 22 25.8824 PLXNB2 0 genome.wustl.edu 37 22 50716655 50716655 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 50716655 50716655 C A SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.4778 p.R1593L 1.000 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 53 0 0 40 10 20 CHKB 0 genome.wustl.edu 37 22 51020280 51020280 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 51020280 51020280 G A SNP CHKB ENST00000406938 human ensembl 74_37 -1 known silent c.345 p.S115 0.995 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 93 0 0 52 17 24.6377 SHANK3 0 genome.wustl.edu 37 22 51117231 51117231 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 51117231 51117231 C T SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.483 p.N161 0.008 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 20 0 0 17 3 15 SHANK3 0 genome.wustl.edu 37 22 51133315 51133315 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 51133315 51133315 G A SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.1143 p.G381 0.871 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 15 0 0 8 3 27.2727 SHANK3 0 genome.wustl.edu 37 22 51143260 51143260 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 51143260 51143260 C T SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.1914 p.A638 0.196 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 41 0 0 36 6 14.2857 IMPG2 0 genome.wustl.edu 37 3 100949925 100949925 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 100949925 100949925 C T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.3298 p.V1100M 0.844 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 194 0 0 104 22 17.4603 CBLB 0 genome.wustl.edu 37 3 105422838 105422838 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 105422838 105422838 T C SNP CBLB ENST00000264122 human ensembl 74_37 -1 known silent c.1587 p.S529 0.980 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 71 0 0 39 10 20.4082 TRAT1 0 genome.wustl.edu 37 3 108572699 108572699 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 108572699 108572699 G A SNP TRAT1 ENST00000295756 human ensembl 74_37 +1 known missense c.536 p.R179H 0.998 NULL NULL - no_errors TRAT1 HGNC ENSG00000163519 141 1 0.704225 128 26 16.8831 C3orf17 0 genome.wustl.edu 37 3 112732150 112732150 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 112732150 112732150 G A SNP C3orf17 ENST00000314400 human ensembl 74_37 -1 known missense c.442 p.R148C 0.976 NULL NULL - no_errors C3orf17 HGNC ENSG00000163608 73 0 0 43 16 27.1186 WDR52 0 genome.wustl.edu 37 3 113118803 113118803 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 113118803 113118803 G A SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known nonsense c.1519 p.Q507* 0.444 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 173 0 0 145 37 20.3297 GRAMD1C 0 genome.wustl.edu 37 3 113658739 113658739 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 113658739 113658739 G A SNP GRAMD1C ENST00000358160 human ensembl 74_37 +1 known silent c.1698 p.L566 0.993 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC ENSG00000178075 64 0 0 58 9 13.4328 UPK1B 0 genome.wustl.edu 37 3 118909885 118909885 + Silent SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 118909885 118909885 T G SNP UPK1B ENST00000264234 human ensembl 74_37 +1 known silent c.402 p.P134 0.791 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1B HGNC ENSG00000114638 314 0 0 203 60 22.8137 CD80 0 genome.wustl.edu 37 3 119263411 119263411 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 119263411 119263411 G A SNP CD80 ENST00000264246 human ensembl 74_37 -1 known missense c.404 p.T135M 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD80 HGNC ENSG00000121594 94 0 0 70 26 27.0833 FBXO40 0 genome.wustl.edu 37 3 121341781 121341781 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 121341781 121341781 G A SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known missense c.1505 p.C502Y 0.913 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 63 0 0 39 11 22 GOLGB1 0 genome.wustl.edu 37 3 121410577 121410577 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 121410577 121410577 A G SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.7619 p.L2540P 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 147 0 0 162 33 16.9231 CD86 0 genome.wustl.edu 37 3 121828183 121828183 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 121828183 121828183 T C SNP CD86 ENST00000330540 human ensembl 74_37 +1 known missense c.775 p.C259R 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD86 HGNC ENSG00000114013 96 0 0 77 25 24.5098 CASR 0 genome.wustl.edu 37 3 121980770 121980770 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 121980770 121980770 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known silent c.888 p.S296 0.030 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 100 0 0 67 24 26.3736 SEMA5B 0 genome.wustl.edu 37 3 122631808 122631808 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 122631808 122631808 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known silent c.2769 p.C923 0.994 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 45 0 0 20 11 35.4839 SEC22A 0 genome.wustl.edu 37 3 122942522 122942522 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 122942522 122942522 T C SNP SEC22A ENST00000309934 human ensembl 74_37 +1 known missense c.299 p.M100T 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors SEC22A HGNC ENSG00000121542 135 0 0 135 29 17.6829 RUVBL1 0 genome.wustl.edu 37 3 127816210 127816210 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 127816210 127816210 G A SNP RUVBL1 ENST00000322623 human ensembl 74_37 -1 known missense c.949 p.R317C 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 80 0 0 34 5 12.8205 RUVBL1 0 genome.wustl.edu 37 3 127816299 127816299 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 127816299 127816299 A G SNP RUVBL1 ENST00000322623 human ensembl 74_37 -1 known missense c.860 p.I287T 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 92 0 0 39 9 18.75 CAND2 0 genome.wustl.edu 37 3 12859303 12859303 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 12859303 12859303 G A SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.2872 p.E958K 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 125 0 0 105 7 6.25 CAND2 0 genome.wustl.edu 37 3 12872989 12872989 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 12872989 12872989 G A SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.3401 p.R1134Q 0.984 pfam_TATA-bd_TIP120,superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 44 0 0 25 9 26.4706 CLSTN2 0 genome.wustl.edu 37 3 140277498 140277498 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 140277498 140277498 G A SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.1840 p.V614I 0.925 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 89 0 0 55 15 21.4286 SPSB4 0 genome.wustl.edu 37 3 140785500 140785500 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 140785500 140785500 A C SNP SPSB4 ENST00000310546 human ensembl 74_37 +1 known missense c.554 p.E185A 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB4 HGNC ENSG00000175093 28 0 0 18 3 14.2857 ACPL2 0 genome.wustl.edu 37 3 141011448 141011448 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 141011448 141011448 G A SNP ACPL2 ENST00000286353 human ensembl 74_37 +1 known missense c.844 p.V282M 0.990 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 66 0 0 39 14 26.4151 GRK7 0 genome.wustl.edu 37 3 141526518 141526518 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 141526518 141526518 T C SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.1082 p.I361T 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_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 121 0 0 78 35 30.9735 CHST2 0 genome.wustl.edu 37 3 142840728 142840728 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 142840728 142840728 G A SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.1070 p.R357H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 38 0 0 24 6 20 CNTN6 0 genome.wustl.edu 37 3 1444070 1444070 + Silent SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 1444070 1444070 T A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.2886 p.L962 0.016 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 68 0 0 49 17 25.7576 ZIC1 0 genome.wustl.edu 37 3 147128224 147128224 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 147128224 147128224 G A SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.325 p.D109N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 44 0 0 31 8 20.5128 CP 0 genome.wustl.edu 37 3 148904461 148904461 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 148904461 148904461 C T SNP CP ENST00000264613 human ensembl 74_37 -1 known silent c.1923 p.S641 0.000 superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 84 0 0 68 31 31.3131 IGSF10 0 genome.wustl.edu 37 3 151154496 151154496 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 151154496 151154496 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.7853 p.T2618M 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 111 0 0 80 26 24.5283 PLCH1 0 genome.wustl.edu 37 3 155301352 155301352 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 155301352 155301352 C T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.644 p.R215Q 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 58 0 0 51 18 26.087 SHOX2 0 genome.wustl.edu 37 3 157823674 157823674 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 157823674 157823674 C T SNP SHOX2 ENST00000389589 human ensembl 74_37 -1 known missense c.140 p.G47D 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX2 HGNC ENSG00000168779 11 0 0 13 5 27.7778 SI 0 genome.wustl.edu 37 3 164709251 164709251 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 164709251 164709251 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.4998 p.G1666 0.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 52 0 0 42 14 25 SLITRK3 0 genome.wustl.edu 37 3 164906063 164906063 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 164906063 164906063 T C SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known silent c.2556 p.G852 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 166 0 0 110 31 21.9858 WDR49 0 genome.wustl.edu 37 3 167246889 167246889 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 167246889 167246889 T C SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.1301 p.Y434C 0.989 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 50 0 0 49 17 25.7576 LRRIQ4 0 genome.wustl.edu 37 3 169546704 169546704 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 169546704 169546704 A G SNP LRRIQ4 ENST00000340806 human ensembl 74_37 +1 known missense c.1178 p.H393R 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 98 0 0 63 15 19.2308 EIF5A2 0 genome.wustl.edu 37 3 170625432 170625432 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 170625432 170625432 T C SNP EIF5A2 ENST00000295822 human ensembl 74_37 -1 known missense c.164 p.K55R 1.000 pfam_KOW,superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A2 HGNC ENSG00000163577 207 0 0 150 46 23.4694 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 69 0 0 69 20 22.4719 FXR1 0 genome.wustl.edu 37 3 180669105 180669105 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 180669105 180669105 C T SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.650 p.A217V 1.000 smart_KH_dom pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 68 0 0 58 11 15.942 ATP11B 0 genome.wustl.edu 37 3 182631688 182631688 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 182631688 182631688 A G SNP ATP11B ENST00000323116 human ensembl 74_37 +1 known missense c.3358 p.M1120V 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11B HGNC ENSG00000058063 345 0 0 219 77 26.0135 DCUN1D1 0 genome.wustl.edu 37 3 182679028 182679028 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 182679028 182679028 C T SNP DCUN1D1 ENST00000292782 human ensembl 74_37 -1 known missense c.506 p.G169E 1.000 pfam_PONY_dom pfam_PONY_dom,superfamily_UBA-like - no_errors DCUN1D1 HGNC ENSG00000043093 220 0 0 172 44 20.3704 EIF2B5 0 genome.wustl.edu 37 3 183858374 183858374 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 183858374 183858374 T C SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known missense c.1012 p.S338P 1.000 superfamily_Trimer_LpxA-like pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 179 0 0 117 47 28.6585 FAM131A 0 genome.wustl.edu 37 3 184062596 184062596 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 184062596 184062596 C A SNP FAM131A ENST00000383847 human ensembl 74_37 +1 known silent c.939 p.S313 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 108 0 0 71 26 26.8041 THPO 0 genome.wustl.edu 37 3 184093704 184093704 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 184093704 184093704 C T SNP THPO ENST00000204615 human ensembl 74_37 -1 known missense c.113 p.R38H 1.000 pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 95 0 0 62 13 17.3333 LIPH 0 genome.wustl.edu 37 3 185252860 185252860 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 185252860 185252860 G A SNP LIPH ENST00000296252 human ensembl 74_37 -1 known missense c.110 p.T37M 0.989 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 160 0 0 107 45 29.6053 RTP1 0 genome.wustl.edu 37 3 186917853 186917853 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 186917853 186917853 G A SNP RTP1 ENST00000312295 human ensembl 74_37 +1 known missense c.787 p.V263I 0.021 NULL NULL - no_errors RTP1 HGNC ENSG00000175077 58 0 0 49 15 23.4375 RTP2 0 genome.wustl.edu 37 3 187416493 187416493 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 187416493 187416493 G T SNP RTP2 ENST00000358241 human ensembl 74_37 -1 known silent c.471 p.A157 1.000 NULL NULL - no_errors RTP2 HGNC ENSG00000198471 47 0 0 49 5 9.25926 KCNH8 0 genome.wustl.edu 37 3 19295379 19295379 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 19295379 19295379 G A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.310 p.G104R 1.000 pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_PAS,smart_PAC,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_ELK,tigrfam_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 75 0 0 58 16 21.6216 LRRC15 0 genome.wustl.edu 37 3 194080099 194080099 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 194080099 194080099 G A SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known silent c.1692 p.C564 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 93 0 0 63 20 24.0964 FAM43A 0 genome.wustl.edu 37 3 194407692 194407692 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 194407692 194407692 C T SNP FAM43A ENST00000329759 human ensembl 74_37 +1 known missense c.137 p.A46V 1.000 NULL smart_PTB/PI_dom - no_errors FAM43A HGNC ENSG00000185112 31 0 0 23 6 20.6897 MUC4 0 genome.wustl.edu 37 3 195516403 195516403 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 195516403 195516403 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.2048 p.P683L 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 133 0 0 73 20 21.5054 TNK2 0 genome.wustl.edu 37 3 195595140 195595140 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 195595140 195595140 C T SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.2218 p.G740R 0.023 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 38 0 0 33 5 13.1579 HMGB1P5 0 genome.wustl.edu 37 3 22423959 22423959 + RNA SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 22423959 22423959 G C SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors HMGB1P5 HGNC ENSG00000132967 28 0 0 27 7 20.5882 TRANK1 0 genome.wustl.edu 37 3 36873742 36873742 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 36873742 36873742 T C SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known silent c.7200 p.P2400 0.005 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 133 0 0 109 31 22.1429 DLEC1 0 genome.wustl.edu 37 3 38080825 38080825 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 38080825 38080825 A G SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.109 p.S37G 0.788 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 86 0 0 75 10 11.7647 CHL1 0 genome.wustl.edu 37 3 382479 382479 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 382479 382479 G A SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.388 p.V130I 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 40 0 0 26 8 23.5294 SCN11A 0 genome.wustl.edu 37 3 38913774 38913774 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 38913774 38913774 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.3405 p.T1135 0.568 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 123 0 0 57 26 31.3253 XIRP1 0 genome.wustl.edu 37 3 39226759 39226759 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 39226759 39226759 C T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.4178 p.G1393E 0.008 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 80 0 0 53 10 15.873 XIRP1 0 genome.wustl.edu 37 3 39227402 39227402 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 39227402 39227402 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.3535 p.R1179C 0.013 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 56 0 0 21 12 36.3636 XIRP1 0 genome.wustl.edu 37 3 39229837 39229837 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 39229837 39229837 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.1100 p.A367V 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 217 0 0 164 44 21.1538 CCR8 0 genome.wustl.edu 37 3 39374056 39374056 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 39374056 39374056 C A SNP CCR8 ENST00000326306 human ensembl 74_37 +1 known silent c.234 p.A78 0.949 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR8,prints_Chemokine_CXCR4,prints_Brdyknn_rcpt - no_errors CCR8 HGNC ENSG00000179934 200 0 0 151 57 27.4038 CTNNB1 0 genome.wustl.edu 37 3 41266654 41266654 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 41266654 41266654 C T SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.451 p.R151C 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 76 0 0 56 14 20 CTNNB1 0 genome.wustl.edu 37 3 41275088 41275088 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 41275088 41275088 C A SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known silent c.1254 p.T418 0.827 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 186 0 0 135 32 19.1617 HHATL 0 genome.wustl.edu 37 3 42735237 42735237 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 42735237 42735237 C T SNP HHATL ENST00000310417 human ensembl 74_37 -1 known missense c.1120 p.A374T 0.996 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 49 0 0 30 8 21.0526 ZNF445 0 genome.wustl.edu 37 3 44489074 44489074 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 44489074 44489074 C T SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.2089 p.V697I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 131 1 0.757576 88 35 28.4553 LTF 0 genome.wustl.edu 37 3 46484979 46484979 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 46484979 46484979 G A SNP LTF ENST00000231751 human ensembl 74_37 -1 known silent c.1608 p.C536 0.008 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 168 0 0 104 27 20.6107 DHX30 0 genome.wustl.edu 37 3 47888257 47888257 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 47888257 47888257 C T SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known silent c.1695 p.D565 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 39 0 0 22 6 21.4286 CDC25A 0 genome.wustl.edu 37 3 48207221 48207221 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 48207221 48207221 C T SNP CDC25A ENST00000302506 human ensembl 74_37 -1 known missense c.1096 p.A366T 1.000 superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,prints_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 117 0 0 84 31 26.9565 SHISA5 0 genome.wustl.edu 37 3 48510522 48510522 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 48510522 48510522 G A SNP SHISA5 ENST00000296444 human ensembl 74_37 -1 known missense c.707 p.P236L 0.953 NULL NULL - no_errors SHISA5 HGNC ENSG00000164054 87 0 0 64 21 24.7059 COL7A1 0 genome.wustl.edu 37 3 48629340 48629340 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 48629340 48629340 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.1348 p.R450C 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 118 0 0 70 15 17.6471 TMEM89 0 genome.wustl.edu 37 3 48659143 48659143 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 48659143 48659143 G A SNP TMEM89 ENST00000330862 human ensembl 74_37 -1 known missense c.47 p.T16M 0.000 NULL NULL - no_errors TMEM89 HGNC ENSG00000183396 46 0 0 35 7 16.6667 SLC26A6 0 genome.wustl.edu 37 3 48669116 48669116 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 48669116 48669116 T A SNP SLC26A6 ENST00000395550 human ensembl 74_37 -1 known missense c.869 p.Q290L 0.005 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 130 0 0 83 32 27.8261 CELSR3 0 genome.wustl.edu 37 3 48696563 48696563 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 48696563 48696563 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.3505 p.L1169F 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 117 0 0 68 30 30.6122 ENSG00000235236 0 genome.wustl.edu 37 3 49017749 49017749 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 49017749 49017749 G A SNP ENSG00000235236 ENST00000415982 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP13-131K19.1 Clone_based_vega_gene ENSG00000235236 67 0 0 54 14 20.5882 USP19 0 genome.wustl.edu 37 3 49152280 49152280 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 49152280 49152280 C T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known silent c.1899 p.R633 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 74 0 0 37 15 28.8462 USP19 0 genome.wustl.edu 37 3 49155454 49155454 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 49155454 49155454 C T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.224 p.R75H 0.003 NULL pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 53 0 0 38 3 7.31707 LAMB2 0 genome.wustl.edu 37 3 49159654 49159654 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 49159654 49159654 G A SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.4723 p.R1575C 0.815 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 68 0 0 51 16 23.8806 MST1R 0 genome.wustl.edu 37 3 49935593 49935593 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 49935593 49935593 C A SNP MST1R ENST00000296474 human ensembl 74_37 -1 known missense c.1771 p.G591C 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MST1R HGNC ENSG00000164078 101 0 0 63 10 13.6986 IFRD2 0 genome.wustl.edu 37 3 50329947 50329947 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 50329947 50329947 T C SNP IFRD2 ENST00000336089 human ensembl 74_37 -1 known missense c.311 p.Q104R 0.000 NULL pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 46 0 0 36 10 21.7391 HYAL2 0 genome.wustl.edu 37 3 50355829 50355829 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 50355829 50355829 T C SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known missense c.1153 p.T385A 0.457 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 128 0 0 79 29 26.8519 TEX264 0 genome.wustl.edu 37 3 51733580 51733580 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 51733580 51733580 G T SNP TEX264 ENST00000341333 human ensembl 74_37 +1 known silent c.639 p.V213 0.491 NULL superfamily_Reg_factor_effector_dom - no_errors TEX264 HGNC ENSG00000164081 120 0 0 76 18 19.1489 DNAH1 0 genome.wustl.edu 37 3 52417962 52417962 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 52417962 52417962 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.8237 p.P2746L 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 24 0 0 15 5 25 STAB1 0 genome.wustl.edu 37 3 52529484 52529484 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 52529484 52529484 G T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.55 p.G19C 0.007 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 13 0 0 10 3 23.0769 PBRM1 0 genome.wustl.edu 37 3 52623161 52623161 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 52623161 52623161 C T SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.2890 p.V964I 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 190 0 0 134 43 24.2938 ITIH4 0 genome.wustl.edu 37 3 52861147 52861147 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 52861147 52861147 G A SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known silent c.318 p.S106 0.000 pfam_VIT,smart_VIT pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 114 0 0 77 9 10.4651 SFMBT1 0 genome.wustl.edu 37 3 52945125 52945125 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 52945125 52945125 G A SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known silent c.1800 p.C600 1.000 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 109 0 0 80 32 28.5714 CACNA1D 0 genome.wustl.edu 37 3 53835443 53835443 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 53835443 53835443 G C SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.5459 p.S1820T 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 96 0 0 72 24 25 PDE12 0 genome.wustl.edu 37 3 57543207 57543207 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 57543207 57543207 C A SNP PDE12 ENST00000311180 human ensembl 74_37 +1 known silent c.1101 p.A367 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 61 0 0 38 16 29.6296 PTPRG 0 genome.wustl.edu 37 3 61975362 61975362 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 61975362 61975362 C A SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.254 p.P85H 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 73 0 0 52 4 7.14286 CADPS 0 genome.wustl.edu 37 3 62385187 62385187 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 62385187 62385187 C T SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.3956 p.R1319Q 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 132 0 0 98 19 16.2393 GPR27 0 genome.wustl.edu 37 3 71804132 71804132 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 71804132 71804132 G A SNP GPR27 ENST00000304411 human ensembl 74_37 +1 known missense c.932 p.R311Q 0.949 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR27 HGNC ENSG00000170837 28 0 0 40 12 23.0769 CADM2 0 genome.wustl.edu 37 3 85775638 85775638 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 85775638 85775638 G T SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known missense c.7 p.V3F 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 84 0 0 79 24 23.301 LMCD1 0 genome.wustl.edu 37 3 8579008 8579008 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 8579008 8579008 G A SNP LMCD1 ENST00000157600 human ensembl 74_37 +1 known missense c.269 p.G90D 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 181 1 0.549451 136 40 22.7273 OXTR 0 genome.wustl.edu 37 3 8809681 8809681 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 8809681 8809681 G A SNP OXTR ENST00000316793 human ensembl 74_37 -1 known missense c.193 p.R65C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 22 0 0 8 4 33.3333 PROS1 0 genome.wustl.edu 37 3 93603719 93603719 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 93603719 93603719 A G SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.1345 p.C449R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 31 0 0 24 8 25 DCBLD2 0 genome.wustl.edu 37 3 98538224 98538224 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 98538224 98538224 G A SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known silent c.909 p.I303 0.002 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,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 44 0 0 33 11 25 TTLL3 0 genome.wustl.edu 37 3 9855027 9855027 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 9855027 9855027 A G SNP TTLL3 ENST00000426895 human ensembl 74_37 +1 known missense c.742 p.M248V 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL3 HGNC ENSG00000214021 29 0 0 22 3 12 COL8A1 0 genome.wustl.edu 37 3 99514307 99514307 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 99514307 99514307 C T SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known missense c.1562 p.P521L 0.664 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 10 0 0 7 4 36.3636 SLC9B1 0 genome.wustl.edu 37 4 103832695 103832695 + Splice_Site SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 103832695 103832695 C A SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known splice_site c.830-1 e7-1 0.993 - - - no_errors SLC9B1 HGNC ENSG00000164037 35 0 0 31 8 20.5128 COL25A1 0 genome.wustl.edu 37 4 110223028 110223028 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 110223028 110223028 G T SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known missense c.148 p.L50M 0.975 NULL pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 140 0 0 103 25 19.5312 PITX2 0 genome.wustl.edu 37 4 111539685 111539685 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 111539685 111539685 G T SNP PITX2 ENST00000306732 human ensembl 74_37 -1 known missense c.571 p.L191I 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX2 HGNC ENSG00000164093 59 0 0 59 14 19.1781 C4orf21 0 genome.wustl.edu 37 4 113524697 113524697 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 113524697 113524697 G A SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known nonsense c.2959 p.Q987* 0.037 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 61 0 0 46 16 25.8065 ANK2 0 genome.wustl.edu 37 4 114275426 114275426 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 114275426 114275426 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.5652 p.S1884 0.003 NULL 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 ANK2 HGNC ENSG00000145362 142 0 0 148 43 22.5131 ANK2 0 genome.wustl.edu 37 4 114294462 114294462 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 114294462 114294462 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.11716 p.R3906W 1.000 NULL 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 ANK2 HGNC ENSG00000145362 87 0 0 72 5 6.49351 TNIP3 0 genome.wustl.edu 37 4 122078256 122078256 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 122078256 122078256 C T SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.356 p.R119Q 0.000 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 245 0 0 182 42 18.75 SPRY1 0 genome.wustl.edu 37 4 124323694 124323694 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 124323694 124323694 T C SNP SPRY1 ENST00000339241 human ensembl 74_37 +1 known silent c.948 p.G316 0.974 NULL pfam_Sprouty - no_errors SPRY1 HGNC ENSG00000164056 132 0 0 93 33 26.1905 FAT4 0 genome.wustl.edu 37 4 126238513 126238513 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 126238513 126238513 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.947 p.R316Q 0.913 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 63 0 0 43 10 18.8679 SCLT1 0 genome.wustl.edu 37 4 129891618 129891618 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 129891618 129891618 G T SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known missense c.692 p.A231D 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 45 0 0 40 9 18.3673 PCDH10 0 genome.wustl.edu 37 4 134071702 134071702 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 134071702 134071702 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.407 p.T136M 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 146 0 0 81 25 23.5849 PCDH10 0 genome.wustl.edu 37 4 134071743 134071743 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 134071743 134071743 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.448 p.D150N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 134 0 0 71 21 22.8261 PCDH10 0 genome.wustl.edu 37 4 134073210 134073210 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 134073210 134073210 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1915 p.R639C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 81 0 0 44 9 16.9811 PCDH10 0 genome.wustl.edu 37 4 134073362 134073362 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 134073362 134073362 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.2067 p.G689 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 60 0 0 37 23 38.3333 ENSG00000243175 0 genome.wustl.edu 37 4 144346642 144346642 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 144346642 144346642 T C SNP ENSG00000243175 ENST00000494591 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-58H15.1 Clone_based_vega_gene ENSG00000243175 41 0 0 19 11 36.6667 CPEB2 0 genome.wustl.edu 37 4 15054156 15054156 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 15054156 15054156 A G SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known silent c.2319 p.E773 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 80 0 0 75 22 22.6804 DCLK2 0 genome.wustl.edu 37 4 151141893 151141893 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 151141893 151141893 C T SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known silent c.1146 p.N382 0.633 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 30 0 0 20 6 23.0769 MAB21L2 0 genome.wustl.edu 37 4 151504537 151504537 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 151504537 151504537 C T SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known missense c.356 p.A119V 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 157 0 0 83 15 15.3061 FBXW7 0 genome.wustl.edu 37 4 153258955 153258955 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 153258955 153258955 T A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.860 p.E287V 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 66 0 0 70 11 13.5802 SFRP2 0 genome.wustl.edu 37 4 154709514 154709514 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 154709514 154709514 G A SNP SFRP2 ENST00000274063 human ensembl 74_37 -1 known silent c.474 p.S158 0.999 superfamily_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC ENSG00000145423 66 0 0 39 5 11.3636 PLRG1 0 genome.wustl.edu 37 4 155458475 155458475 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 155458475 155458475 T C SNP PLRG1 ENST00000393905 human ensembl 74_37 -1 known missense c.1448 p.D483G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC ENSG00000171566 44 0 0 33 6 15.3846 CTSO 0 genome.wustl.edu 37 4 156849509 156849509 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 156849509 156849509 T C SNP CTSO ENST00000433477 human ensembl 74_37 -1 known missense c.910 p.K304E 0.998 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 78 0 0 57 24 29.6296 GRIA2 0 genome.wustl.edu 37 4 158254082 158254082 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 158254082 158254082 G T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.994 p.A332S 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRIA2 HGNC ENSG00000120251 71 0 0 48 13 21.3115 ENSG00000251429 0 genome.wustl.edu 37 4 159198966 159198966 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 159198966 159198966 C T SNP ENSG00000251429 ENST00000512016 human ensembl 74_37 +1 known rna NULL NULL 0.772 - - - no_errors RP11-597D13.7 Clone_based_vega_gene ENSG00000251429 15 0 0 12 10 45.4545 FGFBP1 0 genome.wustl.edu 37 4 15938205 15938205 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 15938205 15938205 C A SNP FGFBP1 ENST00000259988 human ensembl 74_37 -1 known missense c.51 p.Q17H 0.028 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP1 HGNC ENSG00000137440 89 0 0 64 16 20 NAF1 0 genome.wustl.edu 37 4 164050264 164050264 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 164050264 164050264 A G SNP NAF1 ENST00000274054 human ensembl 74_37 -1 known missense c.1270 p.F424L 0.997 NULL pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel - no_errors NAF1 HGNC ENSG00000145414 33 0 0 31 7 18.4211 TKTL2 0 genome.wustl.edu 37 4 164393458 164393458 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 164393458 164393458 T C SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known missense c.1429 p.S477G 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 118 0 0 95 35 26.9231 TKTL2 0 genome.wustl.edu 37 4 164394838 164394838 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 164394838 164394838 G A SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known missense c.49 p.R17W 0.884 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 55 0 0 30 7 18.9189 SH3RF1 0 genome.wustl.edu 37 4 170038835 170038835 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 170038835 170038835 G T SNP SH3RF1 ENST00000284637 human ensembl 74_37 -1 known missense c.1616 p.P539H 0.117 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 97 0 0 62 11 15.0685 GPM6A 0 genome.wustl.edu 37 4 176594945 176594945 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 176594945 176594945 C T SNP GPM6A ENST00000280187 human ensembl 74_37 -1 known silent c.273 p.A91 0.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC ENSG00000150625 66 0 0 34 13 27.6596 PDLIM3 0 genome.wustl.edu 37 4 186444541 186444541 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 186444541 186444541 T C SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known missense c.305 p.K102R 1.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 37 0 0 26 11 29.7297 SORBS2 0 genome.wustl.edu 37 4 186544768 186544768 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 186544768 186544768 G A SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known silent c.1803 p.D601 0.047 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 88 0 0 42 23 35.3846 POLN 0 genome.wustl.edu 37 4 2073999 2073999 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 2073999 2073999 C T SNP POLN ENST00000382865 human ensembl 74_37 -1 known missense c.2545 p.G849S 0.978 pfam_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 36 0 0 22 10 31.25 GPR125 0 genome.wustl.edu 37 4 22389706 22389706 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 22389706 22389706 C T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known silent c.3588 p.T1196 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 122 0 0 89 22 19.8198 ZFYVE28 0 genome.wustl.edu 37 4 2273491 2273491 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 2273491 2273491 C T SNP ZFYVE28 ENST00000290974 human ensembl 74_37 -1 known missense c.2339 p.R780Q 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 141 0 0 74 26 26 DHX15 0 genome.wustl.edu 37 4 24534668 24534668 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 24534668 24534668 G A SNP DHX15 ENST00000336812 human ensembl 74_37 -1 known missense c.1919 p.S640L 1.000 superfamily_P-loop_NTPase pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 172 1 0.578035 131 38 22.4852 MFSD10 0 genome.wustl.edu 37 4 2934080 2934080 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 2934080 2934080 G A SNP MFSD10 ENST00000329687 human ensembl 74_37 -1 known missense c.691 p.R231W 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 29 0 0 18 5 21.7391 RGS12 0 genome.wustl.edu 37 4 3319330 3319330 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 3319330 3319330 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.1433 p.P478L 0.071 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 113 0 0 73 31 29.8077 HGFAC 0 genome.wustl.edu 37 4 3443797 3443797 + Silent SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 3443797 3443797 C G SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.69 p.L23 0.997 pirsf_Coagulation_fac_XIIa/HGFA pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 28 0 0 16 9 36 HGFAC 0 genome.wustl.edu 37 4 3450979 3450979 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 3450979 3450979 C G SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.1801 p.P601A 1.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 124 0 0 77 15 16.3043 TLR1 0 genome.wustl.edu 37 4 38799940 38799940 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 38799940 38799940 T C SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known silent c.513 p.L171 0.962 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 76 0 0 62 19 23.4568 LOC401127 0 genome.wustl.edu 37 4 39482912 39482912 + RNA SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 39482912 39482912 C A SNP LOC401127 ENST00000513652 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 68 0 0 33 10 23.2558 BEND4 0 genome.wustl.edu 37 4 42119657 42119657 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 42119657 42119657 G A SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known nonsense c.1483 p.R495* 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 23 0 0 13 5 27.7778 FIP1L1 0 genome.wustl.edu 37 4 54250025 54250025 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 54250025 54250025 C T SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known missense c.314 p.T105M 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 64 0 0 54 17 23.9437 EVC 0 genome.wustl.edu 37 4 5733255 5733255 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 5733255 5733255 G T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.488 p.S163I 0.997 NULL NULL - no_errors EVC HGNC ENSG00000072840 110 0 0 51 17 25 REST 0 genome.wustl.edu 37 4 57796802 57796802 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 57796802 57796802 G A SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.1778 p.S593N 0.066 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 66 0 0 35 13 27.0833 MAN2B2 0 genome.wustl.edu 37 4 6610942 6610942 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 6610942 6610942 G T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.1923 p.K641N 0.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 74 0 0 46 9 16.3636 EPHA5 0 genome.wustl.edu 37 4 66233108 66233108 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 66233108 66233108 C T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.1891 p.E631K 1.000 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 45 0 0 34 9 20.9302 UGT2B28 0 genome.wustl.edu 37 4 70152481 70152481 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 70152481 70152481 A G SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known silent c.882 p.E294 0.999 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 87 0 0 76 6 7.31707 UTP3 0 genome.wustl.edu 37 4 71554418 71554418 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 71554418 71554418 C T SNP UTP3 ENST00000254803 human ensembl 74_37 +1 known silent c.24 p.R8 0.676 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 38 0 0 28 7 20 SORCS2 0 genome.wustl.edu 37 4 7533275 7533275 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 7533275 7533275 G A SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known silent c.567 p.T189 0.010 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 37 0 0 25 4 13.7931 SHROOM3 0 genome.wustl.edu 37 4 77675925 77675925 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 77675925 77675925 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.4289 p.R1430Q 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 46 0 0 37 6 13.9535 SHROOM3 0 genome.wustl.edu 37 4 77678005 77678005 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 77678005 77678005 C T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known nonsense c.5113 p.R1705* 0.128 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 125 0 0 78 24 23.5294 AFAP1-AS1 0 genome.wustl.edu 37 4 7776655 7776655 + RNA SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 7776655 7776655 T A SNP AFAP1-AS1 ENST00000608442 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AFAP1-AS1 HGNC ENSG00000272620 85 0 0 56 14 20 BMP2K 0 genome.wustl.edu 37 4 79832739 79832739 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 79832739 79832739 G A SNP BMP2K ENST00000335016 human ensembl 74_37 +1 known missense c.3038 p.R1013H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMP2K HGNC ENSG00000138756 86 0 0 59 24 28.9157 C4orf22 0 genome.wustl.edu 37 4 81256977 81256977 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 81256977 81256977 G A SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known missense c.55 p.A19T 1.000 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 75 0 0 55 18 24.6575 COQ2 0 genome.wustl.edu 37 4 84194759 84194759 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 84194759 84194759 T C SNP COQ2 ENST00000311469 human ensembl 74_37 -1 known silent c.582 p.T194 0.998 pfam_UbiA_prenyltransferase,tigrfam_HB_polyprenyl-transferase pfam_UbiA_prenyltransferase,tigrfam_HB_polyprenyl-transferase - no_errors COQ2 HGNC ENSG00000173085 137 0 0 114 34 22.973 MIR548I2 0 genome.wustl.edu 37 4 9557838 9557838 + RNA SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 9557838 9557838 T G SNP MIR548I2 ENST00000408348 human ensembl 74_37 -1 known rna NULL NULL 0.076 - - - no_errors MIR548I2 HGNC ENSG00000221275 92 0 0 87 21 19.4444 TSSK1B 0 genome.wustl.edu 37 5 112770134 112770134 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 112770134 112770134 G A SNP TSSK1B ENST00000390666 human ensembl 74_37 -1 known missense c.403 p.R135W 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_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 74 0 0 40 15 27.2727 KCNN2 0 genome.wustl.edu 37 5 113698896 113698896 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 113698896 113698896 G A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.424 p.G142S 1.000 pfam_K_chnl_Ca-activ_SK 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 55 0 0 26 8 23.5294 FEM1C 0 genome.wustl.edu 37 5 114878754 114878754 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 114878754 114878754 T C SNP FEM1C ENST00000274457 human ensembl 74_37 -1 known missense c.437 p.N146S 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1C HGNC ENSG00000145780 86 0 0 72 28 28 AQPEP 0 genome.wustl.edu 37 5 115336319 115336319 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 115336319 115336319 C T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known silent c.1611 p.N537 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 57 0 0 39 8 17.0213 SLC6A18 0 genome.wustl.edu 37 5 1242892 1242892 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 1242892 1242892 G A SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known missense c.1045 p.V349I 0.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 96 0 0 64 18 21.9512 PHAX 0 genome.wustl.edu 37 5 125939415 125939415 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 125939415 125939415 C T SNP PHAX ENST00000297540 human ensembl 74_37 +1 known nonsense c.250 p.R84* 0.998 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 153 0 0 91 31 25.4098 FBN2 0 genome.wustl.edu 37 5 127624846 127624846 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 127624846 127624846 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.6610 p.L2204F 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 84 0 0 67 17 20.2381 AFF4 0 genome.wustl.edu 37 5 132223801 132223801 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 132223801 132223801 A G SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known silent c.2784 p.N928 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 35 0 0 44 14 24.1379 H2AFY 0 genome.wustl.edu 37 5 134724631 134724631 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 134724631 134724631 G A SNP H2AFY ENST00000511689 human ensembl 74_37 -1 known silent c.153 p.A51 0.158 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,pirsf_Core_histone_macro-H2A,prints_Histone_H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom - no_errors H2AFY HGNC ENSG00000113648 87 0 0 41 15 26.7857 GFRA3 0 genome.wustl.edu 37 5 137589531 137589531 + Nonsense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 137589531 137589531 G T SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known nonsense c.948 p.C316* 0.997 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 50 0 0 33 10 23.2558 DNAH5 0 genome.wustl.edu 37 5 13781014 13781014 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 13781014 13781014 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.8875 p.G2959R 1.000 superfamily_P-loop_NTPase 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 47 0 0 37 12 24.4898 CTNNA1 0 genome.wustl.edu 37 5 138269587 138269587 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 138269587 138269587 C T SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known nonsense c.2530 p.Q844* 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 59 0 0 36 8 18.1818 PSD2 0 genome.wustl.edu 37 5 139192937 139192937 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 139192937 139192937 G A SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.415 p.A139T 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 134 0 0 74 40 35.0877 CD14 0 genome.wustl.edu 37 5 140011861 140011861 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140011861 140011861 C T SNP CD14 ENST00000302014 human ensembl 74_37 -1 known silent c.708 p.T236 0.168 pirsf_Monocyte_diff_Ag_CD14 pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14 - no_errors CD14 HGNC ENSG00000170458 90 0 0 64 12 15.7895 DND1 0 genome.wustl.edu 37 5 140052309 140052309 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140052309 140052309 G A SNP DND1 ENST00000542735 human ensembl 74_37 -1 known missense c.325 p.R109C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DND1 HGNC ENSG00000256453 16 0 0 10 4 28.5714 PCDHA4 0 genome.wustl.edu 37 5 140188395 140188395 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140188395 140188395 C T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1623 p.G541 0.008 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 PCDHA4 HGNC ENSG00000204967 116 0 0 84 25 22.9358 PCDHA5 0 genome.wustl.edu 37 5 140203028 140203028 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140203028 140203028 C T SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1668 p.D556 0.995 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 164 0 0 98 15 13.2743 PCDHA8 0 genome.wustl.edu 37 5 140221047 140221047 + Silent SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140221047 140221047 G C SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.141 p.R47 0.836 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 135 0 0 96 28 22.5806 PCDHA8 0 genome.wustl.edu 37 5 140222193 140222193 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140222193 140222193 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.1287 p.D429 0.969 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 208 0 0 133 41 23.5632 PCDHA9 0 genome.wustl.edu 37 5 140229559 140229559 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140229559 140229559 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1479 p.S493 0.872 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 PCDHA9 HGNC ENSG00000204961 209 0 0 117 42 26.4151 PCDHA13 0 genome.wustl.edu 37 5 140262068 140262068 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140262068 140262068 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.215 p.G72E 0.011 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 250 0 0 181 52 22.3176 PCDHAC1 0 genome.wustl.edu 37 5 140307102 140307102 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140307102 140307102 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.625 p.G209R 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 72 0 0 39 17 30.3571 PCDHAC1 0 genome.wustl.edu 37 5 140308685 140308685 + Nonsense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140308685 140308685 C A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known nonsense c.2208 p.C736* 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 115 0 0 67 23 25.5556 PCDHB10 0 genome.wustl.edu 37 5 140573799 140573799 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140573799 140573799 G A SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known silent c.1674 p.S558 0.698 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 104 0 0 66 19 22.3529 PCDHB15 0 genome.wustl.edu 37 5 140625739 140625739 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140625739 140625739 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.593 p.T198I 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 55 0 0 43 12 21.8182 PCDHGA6 0 genome.wustl.edu 37 5 140753888 140753888 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140753888 140753888 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known nonsense c.238 p.R80* 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 91 0 0 59 21 26.25 PCDHGA6 0 genome.wustl.edu 37 5 140755633 140755633 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140755633 140755633 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.1983 p.T661 0.086 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 PCDHGA6 HGNC ENSG00000253731 114 0 0 84 22 20.7547 PCDHGA9 0 genome.wustl.edu 37 5 140782735 140782735 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140782735 140782735 G A SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known silent c.216 p.T72 0.079 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 116 0 0 83 26 23.8532 PCDHGB6 0 genome.wustl.edu 37 5 140789448 140789448 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140789448 140789448 C T SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.1679 p.P560L 0.978 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 45 0 0 23 6 20.6897 PCDHGB7 0 genome.wustl.edu 37 5 140798893 140798893 + Nonsense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140798893 140798893 C G SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known nonsense c.1467 p.Y489* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 113 0 0 69 22 24.1758 PCDHGC3 0 genome.wustl.edu 37 5 140856586 140856586 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140856586 140856586 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known silent c.903 p.T301 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 109 0 0 78 29 27.1028 PCDH12 0 genome.wustl.edu 37 5 141335577 141335577 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 141335577 141335577 G A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.1840 p.R614W 0.007 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 82 0 0 54 13 19.403 SH3RF2 0 genome.wustl.edu 37 5 145439648 145439648 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 145439648 145439648 G A SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known nonsense c.1775 p.W592* 0.307 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 85 0 0 67 23 25.5556 TCERG1 0 genome.wustl.edu 37 5 145838593 145838593 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 145838593 145838593 G A SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known silent c.585 p.A195 0.958 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 67 0 0 41 8 16.3265 TCERG1 0 genome.wustl.edu 37 5 145838596 145838596 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 145838596 145838596 G A SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known silent c.588 p.Q196 0.997 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 63 0 0 41 7 14.5833 LPCAT1 0 genome.wustl.edu 37 5 1463741 1463741 + RNA SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 1463741 1463741 C G SNP LPCAT1 ENST00000503252 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LPCAT1 HGNC ENSG00000153395 32 0 0 27 7 20.5882 SLC36A3 0 genome.wustl.edu 37 5 150660642 150660642 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 150660642 150660642 G A SNP SLC36A3 ENST00000377713 human ensembl 74_37 -1 known silent c.1200 p.S400 0.395 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 98 0 0 68 13 16.0494 GEMIN5 0 genome.wustl.edu 37 5 154287348 154287348 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 154287348 154287348 C T SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known missense c.2198 p.R733Q 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 144 0 0 110 29 20.8633 FBXL7 0 genome.wustl.edu 37 5 15928421 15928421 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 15928421 15928421 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.550 p.V184M 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 34 0 0 18 6 25 CCNJL 0 genome.wustl.edu 37 5 159738888 159738888 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 159738888 159738888 C T SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known missense c.43 p.V15I 1.000 superfamily_Cyclin-like pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 113 0 0 75 15 16.6667 GABRB2 0 genome.wustl.edu 37 5 160763740 160763740 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 160763740 160763740 C T SNP GABRB2 ENST00000274547 human ensembl 74_37 -1 known missense c.578 p.R193H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 91 0 0 66 13 16.4557 TENM2 0 genome.wustl.edu 37 5 167673928 167673928 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 167673928 167673928 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.5984 p.S1995L 0.997 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 121 0 0 80 32 28.5714 DOCK2 0 genome.wustl.edu 37 5 169116325 169116325 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 169116325 169116325 G C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.831 p.K277N 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 74 0 0 41 12 22.6415 FOXI1 0 genome.wustl.edu 37 5 169533117 169533117 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 169533117 169533117 C T SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known silent c.156 p.G52 0.050 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 30 0 0 24 5 17.2414 FGF18 0 genome.wustl.edu 37 5 170883662 170883662 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 170883662 170883662 G A SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known silent c.477 p.P159 0.041 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 147 0 0 90 23 20.354 FBXW11 0 genome.wustl.edu 37 5 171337640 171337640 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 171337640 171337640 C T SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known silent c.309 p.Q103 1.000 pfam_Beta-TrCP_D pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 55 0 0 40 11 21.5686 CDHR2 0 genome.wustl.edu 37 5 175998265 175998265 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 175998265 175998265 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.367 p.V123I 0.766 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 40 0 0 24 7 22.5806 CDHR2 0 genome.wustl.edu 37 5 176004426 176004426 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 176004426 176004426 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known silent c.1221 p.S407 0.076 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 11 0 0 11 3 21.4286 CDHR2 0 genome.wustl.edu 37 5 176011888 176011888 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 176011888 176011888 C T SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.2606 p.A869V 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 49 0 0 26 11 29.7297 CDHR2 0 genome.wustl.edu 37 5 176016106 176016106 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 176016106 176016106 C T SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known silent c.2931 p.D977 0.025 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 283 0 0 197 40 16.8776 F12 0 genome.wustl.edu 37 5 176831589 176831589 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 176831589 176831589 G A SNP F12 ENST00000253496 human ensembl 74_37 -1 known silent c.711 p.P237 0.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors F12 HGNC ENSG00000131187 15 0 0 10 7 41.1765 B4GALT7 0 genome.wustl.edu 37 5 177031390 177031390 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 177031390 177031390 C T SNP B4GALT7 ENST00000029410 human ensembl 74_37 +1 known silent c.261 p.D87 0.011 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT7 HGNC ENSG00000027847 36 0 0 23 9 28.125 FLT4 0 genome.wustl.edu 37 5 180057684 180057684 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 180057684 180057684 G A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.271 p.P91S 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 89 0 0 59 15 20.2703 TRIM41 0 genome.wustl.edu 37 5 180661379 180661379 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 180661379 180661379 G A SNP TRIM41 ENST00000315073 human ensembl 74_37 +1 known silent c.1497 p.A499 0.007 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC ENSG00000146063 10 0 0 4 4 50 DROSHA 0 genome.wustl.edu 37 5 31401627 31401627 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 31401627 31401627 C T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.4037 p.R1346Q 1.000 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 76 0 0 57 17 22.973 PDZD2 0 genome.wustl.edu 37 5 32058054 32058054 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 32058054 32058054 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.2045 p.S682L 0.999 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 63 0 0 54 16 22.8571 ADAMTS12 0 genome.wustl.edu 37 5 33614441 33614441 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 33614441 33614441 T C SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2429 p.Y810C 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 56 0 0 47 11 18.9655 NIPBL 0 genome.wustl.edu 37 5 36962233 36962233 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 36962233 36962233 T C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.467 p.V156A 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 202 0 0 131 39 22.9412 LIFR 0 genome.wustl.edu 37 5 38482286 38482286 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 38482286 38482286 G T SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.2705 p.P902H 0.999 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 77 0 0 61 16 20.7792 OSMR 0 genome.wustl.edu 37 5 38876360 38876360 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 38876360 38876360 C T SNP OSMR ENST00000274276 human ensembl 74_37 +1 known missense c.131 p.T44M 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 75 0 0 61 14 18.6667 FYB 0 genome.wustl.edu 37 5 39202444 39202444 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 39202444 39202444 C T SNP FYB ENST00000540520 human ensembl 74_37 -1 known missense c.649 p.E217K 0.010 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 98 0 0 74 20 21.2766 FGF10 0 genome.wustl.edu 37 5 44388464 44388464 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 44388464 44388464 C T SNP FGF10 ENST00000264664 human ensembl 74_37 -1 known silent c.321 p.P107 0.998 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF10 HGNC ENSG00000070193 75 0 0 54 12 18.1818 HCN1 0 genome.wustl.edu 37 5 45262443 45262443 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 45262443 45262443 C T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.2253 p.P751 0.095 NULL 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 45 0 0 29 9 23.6842 HCN1 0 genome.wustl.edu 37 5 45462087 45462087 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 45462087 45462087 A C SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.872 p.L291R 1.000 pfam_Ion_trans_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 39 0 0 20 6 23.0769 GZMK 0 genome.wustl.edu 37 5 54320634 54320634 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 54320634 54320634 C T SNP GZMK ENST00000231009 human ensembl 74_37 +1 known missense c.211 p.R71W 0.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 33 0 0 29 4 12.1212 KIAA0947 0 genome.wustl.edu 37 5 5461196 5461196 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 5461196 5461196 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known silent c.1749 p.G583 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 130 0 0 117 21 15.2174 TRIM23 0 genome.wustl.edu 37 5 64905171 64905171 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 64905171 64905171 G A SNP TRIM23 ENST00000231524 human ensembl 74_37 -1 known missense c.943 p.R315C 1.000 smart_Bbox_C pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors TRIM23 HGNC ENSG00000113595 75 0 0 54 22 28.9474 MAST4 0 genome.wustl.edu 37 5 66462647 66462647 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 66462647 66462647 G A SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.7649 p.R2550Q 0.978 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 13 0 0 9 4 30.7692 BDP1 0 genome.wustl.edu 37 5 70798603 70798603 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 70798603 70798603 C T SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known silent c.2226 p.S742 0.437 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 70 0 0 65 10 13.3333 CARTPT 0 genome.wustl.edu 37 5 71015134 71015134 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 71015134 71015134 G A SNP CARTPT ENST00000296777 human ensembl 74_37 +1 known missense c.14 p.R5H 1.000 pfam_CART pfam_CART,superfamily_CART - no_errors CARTPT HGNC ENSG00000164326 103 1 0.961538 78 19 19.5876 SV2C 0 genome.wustl.edu 37 5 75428079 75428079 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 75428079 75428079 G T SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.504 p.E168D 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 118 0 0 73 26 26.2626 PDE8B 0 genome.wustl.edu 37 5 76707503 76707503 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 76707503 76707503 C T SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known silent c.1533 p.D511 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 66 0 0 39 12 23.5294 THBS4 0 genome.wustl.edu 37 5 79368169 79368169 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 79368169 79368169 G T SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.1789 p.G597C 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 422 0 0 283 56 16.5192 SERINC5 0 genome.wustl.edu 37 5 79446741 79446741 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 79446741 79446741 G A SNP SERINC5 ENST00000509193 human ensembl 74_37 -1 known silent c.1011 p.D337 0.944 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC ENSG00000164300 90 0 0 48 13 21.3115 SERINC5 0 genome.wustl.edu 37 5 79498851 79498851 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 79498851 79498851 C T SNP SERINC5 ENST00000509193 human ensembl 74_37 -1 known missense c.49 p.A17T 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC ENSG00000164300 26 0 0 18 4 18.1818 MSH3 0 genome.wustl.edu 37 5 79966006 79966006 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 79966006 79966006 C T SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known missense c.670 p.R224W 0.047 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 54 0 0 37 14 27.451 VCAN 0 genome.wustl.edu 37 5 82836308 82836308 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 82836308 82836308 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.7486 p.N2496D 0.057 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 75 0 0 63 16 20.2532 GPR98 0 genome.wustl.edu 37 5 90086922 90086922 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 90086922 90086922 A G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.14276 p.D4759G 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 41 0 0 18 11 37.931 SEMA5A 0 genome.wustl.edu 37 5 9136666 9136666 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 9136666 9136666 C G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.1549 p.E517Q 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 56 0 0 40 13 24.5283 NR2F1 0 genome.wustl.edu 37 5 92923984 92923984 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 92923984 92923984 G A SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known silent c.825 p.P275 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 90 0 0 62 11 15.0685 ELL2 0 genome.wustl.edu 37 5 95233979 95233979 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 95233979 95233979 G A SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.1490 p.A497V 1.000 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 103 0 0 83 19 18.6275 ERAP1 0 genome.wustl.edu 37 5 96116880 96116880 + Nonsense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 96116880 96116880 C A SNP ERAP1 ENST00000296754 human ensembl 74_37 -1 known nonsense c.2470 p.G824* 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 78 0 0 66 14 17.5 LNPEP 0 genome.wustl.edu 37 5 96358076 96358076 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 96358076 96358076 C T SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known nonsense c.2449 p.R817* 0.675 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 48 0 0 46 7 13.2075 GRIK2 0 genome.wustl.edu 37 6 102074490 102074490 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 102074490 102074490 G A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known silent c.519 p.T173 0.336 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 GRIK2 HGNC ENSG00000164418 59 0 0 41 21 33.871 HACE1 0 genome.wustl.edu 37 6 105239495 105239495 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 105239495 105239495 G T SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.958 p.L320I 1.000 NULL pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 113 0 0 107 28 20.7407 PRDM1 0 genome.wustl.edu 37 6 106536269 106536269 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 106536269 106536269 C T SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known missense c.236 p.A79V 1.000 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 141 0 0 124 29 18.9542 PRDM1 0 genome.wustl.edu 37 6 106553564 106553564 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 106553564 106553564 G A SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known missense c.1529 p.C510Y 0.464 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 64 0 0 45 13 22.4138 ATG5 0 genome.wustl.edu 37 6 106634461 106634461 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 106634461 106634461 G A SNP ATG5 ENST00000343245 human ensembl 74_37 -1 known missense c.782 p.P261L 1.000 pfam_Atg5 pfam_Atg5 - no_errors ATG5 HGNC ENSG00000057663 82 0 0 61 26 29.8851 REV3L 0 genome.wustl.edu 37 6 111695847 111695847 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 111695847 111695847 A G SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.3711 p.A1237 0.984 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 76 0 0 78 23 22.7723 FRK 0 genome.wustl.edu 37 6 116277749 116277749 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 116277749 116277749 A G SNP FRK ENST00000606080 human ensembl 74_37 -1 known missense c.824 p.L275P 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC ENSG00000111816 87 0 0 72 26 26.5306 ROS1 0 genome.wustl.edu 37 6 117631391 117631391 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 117631391 117631391 C T SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.6287 p.R2096Q 0.999 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 129 0 0 101 29 22.3077 HIVEP1 0 genome.wustl.edu 37 6 12124535 12124535 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 12124535 12124535 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.4507 p.V1503I 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 81 0 0 55 13 19.1176 TMEM244 0 genome.wustl.edu 37 6 130182311 130182311 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 130182311 130182311 G A SNP TMEM244 ENST00000368143 human ensembl 74_37 -1 known missense c.23 p.A8V 0.577 pfam_Integral_membrane_SYS1-rel pfam_Integral_membrane_SYS1-rel - no_errors TMEM244 HGNC ENSG00000203756 105 0 0 62 15 19.4805 L3MBTL3 0 genome.wustl.edu 37 6 130370502 130370502 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 130370502 130370502 G A SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known missense c.178 p.A60T 0.999 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 39 0 0 26 4 13.3333 L3MBTL3 0 genome.wustl.edu 37 6 130454682 130454682 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 130454682 130454682 C A SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known silent c.2052 p.P684 0.996 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 68 0 0 57 15 20.8333 ENPP3 0 genome.wustl.edu 37 6 132045205 132045205 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 132045205 132045205 A G SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.1772 p.Q591R 0.420 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 56 0 0 41 11 21.1538 GFOD1 0 genome.wustl.edu 37 6 13365828 13365828 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 13365828 13365828 G A SNP GFOD1 ENST00000379287 human ensembl 74_37 -1 known missense c.320 p.A107V 1.000 pfam_Oxidoreductase_N pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 114 0 0 88 19 17.757 TNFAIP3 0 genome.wustl.edu 37 6 138195987 138195987 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 138195987 138195987 G A SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.301 p.G101S 1.000 pfam_OTU,pfscan_OTU pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 47 0 0 38 13 25.4902 SHPRH 0 genome.wustl.edu 37 6 146276057 146276057 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 146276057 146276057 G A SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known silent c.402 p.S134 0.990 NULL pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 51 0 0 50 17 25.3731 GRM1 0 genome.wustl.edu 37 6 146720722 146720722 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 146720722 146720722 C A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.2547 p.A849 1.000 pfscan_GPCR_3_C 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 59 0 0 43 12 21.8182 GRM1 0 genome.wustl.edu 37 6 146755477 146755477 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 146755477 146755477 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.3130 p.A1044T 0.348 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 106 0 0 65 14 17.7215 RAB32 0 genome.wustl.edu 37 6 146865026 146865026 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 146865026 146865026 G A SNP RAB32 ENST00000367495 human ensembl 74_37 +1 known missense c.19 p.G7R 0.005 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB32 HGNC ENSG00000118508 18 0 0 11 4 26.6667 STXBP5 0 genome.wustl.edu 37 6 147588297 147588297 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 147588297 147588297 T C SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known silent c.708 p.Y236 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 132 0 0 86 35 28.9256 PCMT1 0 genome.wustl.edu 37 6 150123459 150123459 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 150123459 150123459 G A SNP PCMT1 ENST00000367384 human ensembl 74_37 +1 known missense c.802 p.G268R 1.000 pfam_PCMT,tigrfam_PCMT pfam_PCMT,tigrfam_PCMT - no_errors PCMT1 HGNC ENSG00000120265 56 0 0 47 14 22.9508 ZBTB2 0 genome.wustl.edu 37 6 151687158 151687158 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 151687158 151687158 T C SNP ZBTB2 ENST00000325144 human ensembl 74_37 -1 known missense c.1043 p.N348S 1.000 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 ZBTB2 HGNC ENSG00000181472 108 0 0 89 20 18.3486 ZBTB2 0 genome.wustl.edu 37 6 151687648 151687648 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 151687648 151687648 C T SNP ZBTB2 ENST00000325144 human ensembl 74_37 -1 known missense c.553 p.A185T 0.991 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 ZBTB2 HGNC ENSG00000181472 83 0 0 49 12 19.6721 ARID1B 0 genome.wustl.edu 37 6 157488172 157488172 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 157488172 157488172 A G SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known splice_site c.2841-2 e9-2 0.999 - - - no_errors ARID1B HGNC ENSG00000049618 230 0 0 157 57 26.6355 IGF2R 0 genome.wustl.edu 37 6 160494972 160494972 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 160494972 160494972 G A SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.5131 p.A1711T 0.992 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 34 0 0 20 11 35.4839 T 0 genome.wustl.edu 37 6 166579295 166579295 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 166579295 166579295 G A SNP T ENST00000296946 human ensembl 74_37 -1 known nonsense c.505 p.R169* 0.892 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 285 0 0 202 51 20.1581 TTLL2 0 genome.wustl.edu 37 6 167753909 167753909 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 167753909 167753909 T C SNP TTLL2 ENST00000239587 human ensembl 74_37 +1 known missense c.521 p.L174P 0.012 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 85 0 0 51 17 25 MLLT4 0 genome.wustl.edu 37 6 168352326 168352326 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 168352326 168352326 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.4271 p.A1424V 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 142 0 0 87 20 18.6916 THBS2 0 genome.wustl.edu 37 6 169637357 169637357 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 169637357 169637357 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.1385 p.R462H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 40 0 0 28 7 20 ERMARD 0 genome.wustl.edu 37 6 170162628 170162628 + Splice_Site SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 170162628 170162628 G C SNP ERMARD ENST00000366773 human ensembl 74_37 +1 known splice_site c.960+1 e9+1 1.000 - - - no_errors ERMARD HGNC ENSG00000130023 95 0 0 58 19 24.6753 TBP 0 genome.wustl.edu 37 6 170871034 170871034 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 170871034 170871034 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.210 p.Q70 0.924 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 82 0 0 66 4 5.71429 KIF13A 0 genome.wustl.edu 37 6 17804675 17804675 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 17804675 17804675 C T SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.2371 p.G791R 0.999 pfam_KIF1B pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 8 0 0 8 2 20 MBOAT1 0 genome.wustl.edu 37 6 20124681 20124681 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 20124681 20124681 T C SNP MBOAT1 ENST00000324607 human ensembl 74_37 -1 known missense c.865 p.M289V 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 138 0 0 94 31 24.8 CDKAL1 0 genome.wustl.edu 37 6 21201396 21201396 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 21201396 21201396 A G SNP CDKAL1 ENST00000274695 human ensembl 74_37 +1 known missense c.1439 p.Y480C 1.000 pfam_TRAM_dom,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 123 0 0 101 26 20.4724 KIAA0319 0 genome.wustl.edu 37 6 24547486 24547486 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 24547486 24547486 G A SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known silent c.3126 p.S1042 1.000 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 106 0 0 85 21 19.8113 HIST1H2AE 0 genome.wustl.edu 37 6 26217419 26217419 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 26217419 26217419 G A SNP HIST1H2AE ENST00000303910 human ensembl 74_37 +1 known missense c.217 p.D73N 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 98 0 0 79 16 16.8421 HIST1H2AE 0 genome.wustl.edu 37 6 26217530 26217530 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 26217530 26217530 C T SNP HIST1H2AE ENST00000303910 human ensembl 74_37 +1 known missense c.328 p.P110S 1.000 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 95 0 0 59 8 11.9403 MYLK4 0 genome.wustl.edu 37 6 2693062 2693062 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 2693062 2693062 G A SNP MYLK4 ENST00000268446 human ensembl 74_37 -1 known missense c.191 p.T64M 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK4 HGNC ENSG00000145949 32 0 0 31 6 16.2162 PGBD1 0 genome.wustl.edu 37 6 28268977 28268977 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 28268977 28268977 G T SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.1346 p.S449I 0.971 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 132 0 0 124 31 20 GABBR1 0 genome.wustl.edu 37 6 29577006 29577006 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 29577006 29577006 C T SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.1859 p.R620H 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 39 0 0 22 6 21.4286 TRIM31 0 genome.wustl.edu 37 6 30080571 30080571 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 30080571 30080571 C T SNP TRIM31 ENST00000376734 human ensembl 74_37 -1 known silent c.12 p.G4 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 75 0 0 57 19 25 TRIM39 0 genome.wustl.edu 37 6 30308351 30308351 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 30308351 30308351 T C SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known silent c.963 p.F321 0.984 pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 82 0 0 71 21 22.8261 ABHD16A 0 genome.wustl.edu 37 6 31661161 31661161 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 31661161 31661161 A C SNP ABHD16A ENST00000395952 human ensembl 74_37 -1 known missense c.478 p.F160V 1.000 NULL pfam_AB_hydrolase_1 - no_errors ABHD16A HGNC ENSG00000204427 55 0 0 40 10 20 MSH5 0 genome.wustl.edu 37 6 31727272 31727272 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 31727272 31727272 T C SNP MSH5 ENST00000375742 human ensembl 74_37 +1 known missense c.1529 p.L510P 1.000 pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 53 0 0 44 15 25.4237 TNXB 0 genome.wustl.edu 37 6 32023823 32023823 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 32023823 32023823 T C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.8272 p.I2758V 0.315 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 91 0 0 62 4 6.06061 B3GALT4 0 genome.wustl.edu 37 6 33246150 33246150 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 33246150 33246150 G T SNP B3GALT4 ENST00000451237 human ensembl 74_37 +1 known silent c.954 p.P318 0.055 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 135 0 0 87 23 20.9091 TAPBP 0 genome.wustl.edu 37 6 33272343 33272343 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 33272343 33272343 A C SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known missense c.941 p.L314R 0.012 pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 55 0 0 47 13 21.6667 ITPR3 0 genome.wustl.edu 37 6 33663508 33663508 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 33663508 33663508 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.7967 p.R2656H 1.000 NULL 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 170 0 0 75 16 17.5824 GRM4 0 genome.wustl.edu 37 6 34003851 34003851 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 34003851 34003851 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.2036 p.R679H 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 118 0 0 72 10 12.1951 SCUBE3 0 genome.wustl.edu 37 6 35196408 35196408 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 35196408 35196408 C T SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known nonsense c.226 p.R76* 0.986 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 37 0 0 31 8 20.5128 TULP1 0 genome.wustl.edu 37 6 35466128 35466128 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 35466128 35466128 G A SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known silent c.1605 p.F535 0.995 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 30 0 0 17 5 22.7273 TULP1 0 genome.wustl.edu 37 6 35467757 35467757 + Splice_Site SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 35467757 35467757 C T SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known splice_site c.1495+1 e14+1 1.000 - - - no_errors TULP1 HGNC ENSG00000112041 100 0 0 73 32 30.4762 SLC26A8 0 genome.wustl.edu 37 6 35965630 35965630 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 35965630 35965630 T C SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.512 p.Q171R 0.999 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 92 0 0 55 22 28.5714 MDGA1 0 genome.wustl.edu 37 6 37614111 37614111 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 37614111 37614111 C T SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.2096 p.R699Q 0.975 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 17 0 0 12 3 20 DNAH8 0 genome.wustl.edu 37 6 38828322 38828322 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 38828322 38828322 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.5397 p.V1799 0.088 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 DNAH8 HGNC ENSG00000124721 30 0 0 29 8 21.6216 DNAH8 0 genome.wustl.edu 37 6 38862578 38862578 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 38862578 38862578 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.8034 p.C2678 0.020 superfamily_P-loop_NTPase 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 DNAH8 HGNC ENSG00000124721 43 0 0 26 11 29.7297 IRF4 0 genome.wustl.edu 37 6 394848 394848 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 394848 394848 C T SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known nonsense c.244 p.R82* 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 178 1 0.558659 98 30 23.4375 KIF6 0 genome.wustl.edu 37 6 39693147 39693147 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 39693147 39693147 T C SNP KIF6 ENST00000482238 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors KIF6 HGNC ENSG00000164627 250 2 0.793651 138 22 13.75 PGC 0 genome.wustl.edu 37 6 41710153 41710153 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 41710153 41710153 C T SNP PGC ENST00000373025 human ensembl 74_37 -1 known silent c.522 p.A174 0.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGC HGNC ENSG00000096088 95 0 0 56 16 22.2222 PEX6 0 genome.wustl.edu 37 6 42934036 42934036 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 42934036 42934036 G A SNP PEX6 ENST00000304611 human ensembl 74_37 -1 known silent c.2244 p.T748 0.047 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 55 0 0 31 8 20.5128 CAPN11 0 genome.wustl.edu 37 6 44148518 44148518 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 44148518 44148518 C T SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known silent c.1780 p.L594 0.984 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 106 0 0 86 21 19.6262 TDRD6 0 genome.wustl.edu 37 6 46661330 46661330 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 46661330 46661330 A G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.5465 p.H1822R 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 113 0 0 87 20 18.6916 GPR116 0 genome.wustl.edu 37 6 46826552 46826552 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 46826552 46826552 A G SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.3088 p.C1030R 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 62 0 0 46 16 25.8065 GCM1 0 genome.wustl.edu 37 6 52993439 52993439 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 52993439 52993439 G A SNP GCM1 ENST00000259803 human ensembl 74_37 -1 known silent c.876 p.G292 0.002 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM1 HGNC ENSG00000137270 84 0 0 71 16 18.3908 GFRAL 0 genome.wustl.edu 37 6 55266626 55266626 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 55266626 55266626 C T SNP GFRAL ENST00000340465 human ensembl 74_37 +1 known missense c.1160 p.S387L 0.000 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 44 0 0 55 13 19.1176 BAI3 0 genome.wustl.edu 37 6 69653743 69653743 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 69653743 69653743 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1052 p.W351L 1.000 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_CUB_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 BAI3 HGNC ENSG00000135298 100 0 0 94 23 19.6581 BAI3 0 genome.wustl.edu 37 6 70034893 70034893 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 70034893 70034893 C T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2944 p.R982C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 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_CUB_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 BAI3 HGNC ENSG00000135298 97 0 0 93 28 23.1405 BAI3 0 genome.wustl.edu 37 6 70098683 70098683 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 70098683 70098683 C T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.4469 p.T1490I 1.000 NULL 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_CUB_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 BAI3 HGNC ENSG00000135298 53 0 0 31 11 26.1905 FAM135A 0 genome.wustl.edu 37 6 71238145 71238145 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 71238145 71238145 C T SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known silent c.3765 p.H1255 0.993 pfam_DUF676_lipase-like,pfam_PGAP1-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 95 0 0 104 7 6.30631 RREB1 0 genome.wustl.edu 37 6 7230666 7230666 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 7230666 7230666 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.2334 p.R778 0.379 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 29 0 0 30 6 16.6667 KIAA1009 0 genome.wustl.edu 37 6 84930884 84930884 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 84930884 84930884 T C SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known silent c.63 p.S21 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 50 0 0 42 14 25 SMIM8 0 genome.wustl.edu 37 6 88046820 88046820 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 88046820 88046820 G T SNP SMIM8 ENST00000229570 human ensembl 74_37 +1 known missense c.71 p.G24V 1.000 NULL NULL - no_errors SMIM8 HGNC ENSG00000111850 115 0 0 68 14 17.0732 PNRC1 0 genome.wustl.edu 37 6 89793717 89793717 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 89793717 89793717 G A SNP PNRC1 ENST00000336032 human ensembl 74_37 +1 known silent c.786 p.S262 0.001 NULL NULL - no_errors PNRC1 HGNC ENSG00000146278 108 0 0 82 24 22.6415 MDN1 0 genome.wustl.edu 37 6 90359786 90359786 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 90359786 90359786 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.16163 p.A5388V 1.000 smart_VWF_A,pirsf_Midasin,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 101 0 0 88 22 20 VGF 0 genome.wustl.edu 37 7 100806796 100806796 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 100806796 100806796 G C SNP VGF ENST00000249330 human ensembl 74_37 -1 known missense c.1329 p.D443E 0.789 NULL NULL - no_errors VGF HGNC ENSG00000128564 25 0 0 16 4 20 ZNHIT1 0 genome.wustl.edu 37 7 100866015 100866015 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 100866015 100866015 C T SNP ZNHIT1 ENST00000305105 human ensembl 74_37 +1 known silent c.153 p.L51 0.007 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT1 HGNC ENSG00000106400 99 0 0 70 12 14.6341 CUX1 0 genome.wustl.edu 37 7 101821799 101821799 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 101821799 101821799 C T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known silent c.912 p.A304 0.980 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 25 0 0 22 5 18.5185 CYP2W1 0 genome.wustl.edu 37 7 1026290 1026290 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 1026290 1026290 C A SNP CYP2W1 ENST00000308919 human ensembl 74_37 +1 known missense c.676 p.L226M 0.274 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 68 0 0 47 12 20.339 KMT2E 0 genome.wustl.edu 37 7 104747115 104747115 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 104747115 104747115 C T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.2743 p.R915W 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 147 1 0.675676 121 35 22.4359 LAMB4 0 genome.wustl.edu 37 7 107671340 107671340 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 107671340 107671340 G A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known nonsense c.4903 p.Q1635* 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 135 0 0 108 23 17.5573 MET 0 genome.wustl.edu 37 7 116397718 116397718 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 116397718 116397718 G A SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.1992 p.P664 0.347 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 83 0 0 55 18 24.6575 PTPRZ1 0 genome.wustl.edu 37 7 121650506 121650506 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 121650506 121650506 G A SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.1406 p.R469H 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 91 0 0 79 31 28.1818 GCC1 0 genome.wustl.edu 37 7 127225103 127225103 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 127225103 127225103 A G SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.134 p.L45P 0.991 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 141 0 0 98 9 8.41121 LEP 0 genome.wustl.edu 37 7 127894749 127894749 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 127894749 127894749 C G SNP LEP ENST00000308868 human ensembl 74_37 +1 known missense c.437 p.A146G 1.000 pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin - no_errors LEP HGNC ENSG00000174697 49 0 0 37 11 22.9167 FLNC 0 genome.wustl.edu 37 7 128493526 128493526 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 128493526 128493526 A G SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.6212 p.Y2071C 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 36 0 0 22 4 15.3846 CPA5 0 genome.wustl.edu 37 7 130007750 130007750 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 130007750 130007750 G A SNP CPA5 ENST00000355388 human ensembl 74_37 +1 known missense c.1042 p.D348N 0.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 70 0 0 42 17 28.8136 AKR1B10 0 genome.wustl.edu 37 7 134225823 134225823 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 134225823 134225823 C A SNP AKR1B10 ENST00000359579 human ensembl 74_37 +1 known silent c.933 p.P311 0.870 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 24 0 0 23 5 17.8571 HIPK2 0 genome.wustl.edu 37 7 139268706 139268706 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 139268706 139268706 C T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.2822 p.R941H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 44 0 0 31 14 31.1111 DENND2A 0 genome.wustl.edu 37 7 140301369 140301369 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 140301369 140301369 C T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.829 p.G277R 0.981 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 205 0 0 183 18 8.95522 CLEC5A 0 genome.wustl.edu 37 7 141631550 141631550 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 141631550 141631550 C T SNP CLEC5A ENST00000546910 human ensembl 74_37 -1 known missense c.422 p.R141H 0.202 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC5A HGNC ENSG00000258227 115 0 0 74 23 23.7113 MGAM 0 genome.wustl.edu 37 7 141739966 141739966 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 141739966 141739966 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.2368 p.E790K 1.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 19 0 0 17 4 19.0476 MGAM 0 genome.wustl.edu 37 7 141752641 141752641 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 141752641 141752641 A G SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.3016 p.S1006G 0.106 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 116 0 0 87 21 19.4444 FAM131B 0 genome.wustl.edu 37 7 143054384 143054384 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 143054384 143054384 A G SNP FAM131B ENST00000443739 human ensembl 74_37 -1 known missense c.599 p.M200T 1.000 NULL NULL - no_errors FAM131B HGNC ENSG00000159784 119 0 0 98 18 15.5172 ZYX 0 genome.wustl.edu 37 7 143079937 143079937 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 143079937 143079937 G A SNP ZYX ENST00000322764 human ensembl 74_37 +1 known missense c.545 p.S182N 0.015 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ENSG00000159840 107 0 0 53 19 26.3889 OR6B1 0 genome.wustl.edu 37 7 143701249 143701249 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 143701249 143701249 C T SNP OR6B1 ENST00000408922 human ensembl 74_37 +1 known missense c.160 p.P54S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 79 0 0 68 20 22.7273 ZNF425 0 genome.wustl.edu 37 7 148801507 148801507 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 148801507 148801507 C T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.1456 p.A486T 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 66 0 0 41 7 14.5833 CHPF2 0 genome.wustl.edu 37 7 150932678 150932678 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 150932678 150932678 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.808 p.G270S 0.987 pfam_Chond_GalNAc,pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 111 0 0 57 22 27.8481 HTR5A 0 genome.wustl.edu 37 7 154863287 154863287 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 154863287 154863287 T C SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known silent c.678 p.A226 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 63 0 0 39 11 22 PSMG3 0 genome.wustl.edu 37 7 1608845 1608845 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 1608845 1608845 G A SNP PSMG3 ENST00000252329 human ensembl 74_37 -1 known missense c.131 p.T44I 0.971 pfam_Proteasome_assmbl_chp_3 pfam_Proteasome_assmbl_chp_3 - no_errors PSMG3 HGNC ENSG00000157778 91 0 0 68 13 16.0494 ABCB5 0 genome.wustl.edu 37 7 20689679 20689679 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 20689679 20689679 G C SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative missense c.1241 p.G414A 1.000 superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 36 0 0 19 4 17.3913 SP8 0 genome.wustl.edu 37 7 20824258 20824258 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 20824258 20824258 G A SNP SP8 ENST00000418710 human ensembl 74_37 -1 known missense c.1178 p.A393V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 12 0 0 12 5 29.4118 SP4 0 genome.wustl.edu 37 7 21550662 21550662 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 21550662 21550662 G A SNP SP4 ENST00000222584 human ensembl 74_37 +1 known silent c.2130 p.P710 0.987 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 55 0 0 51 15 22.7273 GPNMB 0 genome.wustl.edu 37 7 23286459 23286459 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 23286459 23286459 C T SNP GPNMB ENST00000459927 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GPNMB HGNC ENSG00000136235 71 0 0 39 17 30.3571 GPNMB 0 genome.wustl.edu 37 7 23309629 23309629 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 23309629 23309629 G A SNP GPNMB ENST00000381990 human ensembl 74_37 +1 known missense c.1300 p.E434K 0.974 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors GPNMB HGNC ENSG00000136235 145 0 0 96 28 22.5806 TRA2A 0 genome.wustl.edu 37 7 23545380 23545380 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 23545380 23545380 G A SNP TRA2A ENST00000297071 human ensembl 74_37 -1 known missense c.823 p.R275C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 56 0 0 69 23 25 EIF3B 0 genome.wustl.edu 37 7 2405962 2405962 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 2405962 2405962 A T SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known missense c.1168 p.T390S 1.000 pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 81 0 0 58 17 22.6667 NPY 0 genome.wustl.edu 37 7 24324899 24324899 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 24324899 24324899 C A SNP NPY ENST00000242152 human ensembl 74_37 +1 known missense c.40 p.L14I 1.000 NULL pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors NPY HGNC ENSG00000122585 89 0 0 68 13 16.0494 C7orf31 0 genome.wustl.edu 37 7 25194712 25194712 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 25194712 25194712 C T SNP C7orf31 ENST00000283905 human ensembl 74_37 -1 known silent c.513 p.T171 0.021 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 57 0 0 43 5 10.4167 ZNRF2P2 0 genome.wustl.edu 37 7 29690705 29690705 + RNA SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 29690705 29690705 C A SNP ZNRF2P2 ENST00000426767 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNRF2P2 HGNC ENSG00000225264 10 0 0 7 6 46.1538 CARD11 0 genome.wustl.edu 37 7 2976790 2976790 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 2976790 2976790 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.1222 p.R408C 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 86 0 0 37 9 19.5652 DPY19L2P1 0 genome.wustl.edu 37 7 35161143 35161143 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 35161143 35161143 G A SNP DPY19L2P1 ENST00000458672 human ensembl 74_37 -1 known rna NULL NULL 0.838 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 69 0 0 63 17 21.25 SFRP4 0 genome.wustl.edu 37 7 37947147 37947147 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 37947147 37947147 T C SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known silent c.975 p.P325 0.545 NULL pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 163 0 0 137 29 17.4699 EPDR1 0 genome.wustl.edu 37 7 37960370 37960370 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 37960370 37960370 C T SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known silent c.189 p.R63 0.000 NULL pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 38 0 0 28 5 15.1515 CDK13 0 genome.wustl.edu 37 7 40037187 40037187 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 40037187 40037187 C T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.1966 p.P656S 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 161 0 0 97 25 20.4918 INHBA 0 genome.wustl.edu 37 7 41730044 41730044 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 41730044 41730044 G T SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.485 p.P162H 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 100 0 0 61 12 16.4384 INHBA 0 genome.wustl.edu 37 7 41739728 41739728 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 41739728 41739728 G A SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.245 p.A82V 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 523 0 0 377 144 27.6392 GLI3 0 genome.wustl.edu 37 7 42005606 42005606 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 42005606 42005606 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3065 p.P1022L 0.992 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 25 0 0 18 4 18.1818 GLI3 0 genome.wustl.edu 37 7 42063103 42063103 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 42063103 42063103 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.1461 p.C487 0.949 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 74 0 0 64 14 17.9487 DBNL 0 genome.wustl.edu 37 7 44099737 44099737 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 44099737 44099737 T C SNP DBNL ENST00000468694 human ensembl 74_37 +1 known missense c.1165 p.Y389H 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC ENSG00000136279 28 0 0 33 6 15.3846 POLM 0 genome.wustl.edu 37 7 44112814 44112814 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 44112814 44112814 A G SNP POLM ENST00000395831 human ensembl 74_37 -1 novel silent c.1374 p.D458 0.000 NULL superfamily_DNA_pol_b-like_N,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X - no_errors POLM HGNC ENSG00000122678 25 0 0 22 5 18.5185 AEBP1 0 genome.wustl.edu 37 7 44152379 44152379 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 44152379 44152379 T C SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.2440 p.W814R 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 53 0 0 37 11 22.9167 TNS3 0 genome.wustl.edu 37 7 47385878 47385878 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 47385878 47385878 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.2358 p.G786 0.004 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 85 0 0 85 18 17.4757 PKD1L1 0 genome.wustl.edu 37 7 47920397 47920397 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 47920397 47920397 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.3449 p.T1150I 0.373 pfam_PKD/REJ-like,pfscan_REJ-like 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 60 0 0 39 14 26.4151 UPP1 0 genome.wustl.edu 37 7 48142893 48142893 + Splice_Site SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 48142893 48142893 G A SNP UPP1 ENST00000331803 human ensembl 74_37 +1 known splice_site c.322-1 e4-1 1.000 - - - no_errors UPP1 HGNC ENSG00000183696 48 0 0 35 10 22.2222 ABCA13 0 genome.wustl.edu 37 7 48314041 48314041 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 48314041 48314041 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.4778 p.V1593A 0.036 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 155 1 0.641026 128 35 21.4724 ABCA13 0 genome.wustl.edu 37 7 48563962 48563962 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 48563962 48563962 A G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.14170 p.S4724G 0.037 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 29 0 0 23 5 17.8571 FIGNL1 0 genome.wustl.edu 37 7 50513124 50513124 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 50513124 50513124 C T SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known missense c.1862 p.R621H 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 70 0 0 34 18 34.6154 RNF216 0 genome.wustl.edu 37 7 5751450 5751450 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 5751450 5751450 G A SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.2003 p.P668L 1.000 smart_Znf_C6HC smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 31 0 0 26 7 21.2121 USP42 0 genome.wustl.edu 37 7 6189484 6189484 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 6189484 6189484 G A SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.1657 p.V553I 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 56 0 0 59 15 20.2703 DAGLB 0 genome.wustl.edu 37 7 6449982 6449982 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 6449982 6449982 G A SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known silent c.1599 p.Y533 0.966 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 60 0 0 38 18 32.1429 SBDS 0 genome.wustl.edu 37 7 66458338 66458338 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 66458338 66458338 T C SNP SBDS ENST00000246868 human ensembl 74_37 -1 known missense c.325 p.R109G 1.000 pfam_Ribosome_mat_SBDS_C,tigrfam_Ribosome_maturation_pr_SBDS pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS - no_errors SBDS HGNC ENSG00000126524 148 0 0 108 34 23.9437 AUTS2 0 genome.wustl.edu 37 7 70255416 70255416 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 70255416 70255416 C T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.3214 p.R1072W 0.970 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 33 0 0 24 5 17.2414 AUTS2 0 genome.wustl.edu 37 7 70255803 70255803 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 70255803 70255803 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.3601 p.A1201T 0.005 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 65 0 0 46 12 20.6897 PMS2P3 0 genome.wustl.edu 37 7 75155324 75155324 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 75155324 75155324 T C SNP PMS2P3 ENST00000437568 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors PMS2P3 HGNC ENSG00000127957 53 0 0 48 10 17.2414 SRCRB4D 0 genome.wustl.edu 37 7 76033720 76033720 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 76033720 76033720 G T SNP SRCRB4D ENST00000275560 human ensembl 74_37 -1 known missense c.37 p.L13M 0.223 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors SRCRB4D HGNC ENSG00000146700 79 0 0 62 12 16.2162 MIOS 0 genome.wustl.edu 37 7 7612652 7612652 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 7612652 7612652 A G SNP MIOS ENST00000340080 human ensembl 74_37 +1 known silent c.546 p.G182 0.993 smart_WD40_repeat smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 51 0 0 32 12 27.2727 CACNA2D1 0 genome.wustl.edu 37 7 81637062 81637062 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 81637062 81637062 A G SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.1373 p.L458P 1.000 pfam_Cache_domain pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 29 0 0 31 5 13.8889 ANKIB1 0 genome.wustl.edu 37 7 92021605 92021605 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 92021605 92021605 A G SNP ANKIB1 ENST00000265742 human ensembl 74_37 +1 known missense c.2282 p.E761G 1.000 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 176 0 0 142 53 27.1795 GNGT1 0 genome.wustl.edu 37 7 93540134 93540134 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 93540134 93540134 C T SNP GNGT1 ENST00000248572 human ensembl 74_37 +1 known silent c.129 p.Y43 0.972 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT1 HGNC ENSG00000127928 89 0 0 66 21 24.1379 CASD1 0 genome.wustl.edu 37 7 94168352 94168352 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 94168352 94168352 T C SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known missense c.1340 p.I447T 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 41 0 0 44 9 16.9811 CASD1 0 genome.wustl.edu 37 7 94168365 94168365 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 94168365 94168365 T C SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known silent c.1353 p.S451 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 38 0 0 34 16 32 PON3 0 genome.wustl.edu 37 7 95019491 95019491 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 95019491 95019491 G T SNP PON3 ENST00000265627 human ensembl 74_37 -1 known missense c.176 p.P59H 1.000 prints_Arylesterase pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 283 0 0 208 42 16.8 ZKSCAN5 0 genome.wustl.edu 37 7 99129068 99129068 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 99129068 99129068 T C SNP ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known silent c.1716 p.T572 0.702 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 54 0 0 43 12 21.8182 ZSCAN21 0 genome.wustl.edu 37 7 99655395 99655395 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 99655395 99655395 G A SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known silent c.474 p.P158 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ENSG00000166529 92 0 0 50 19 27.5362 TAF6 0 genome.wustl.edu 37 7 99709732 99709732 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 99709732 99709732 G A SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known missense c.719 p.A240V 1.000 superfamily_ARM-type_fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 28 0 0 24 6 20 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99950682 99950682 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 99950682 99950682 G A SNP STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.200 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 64 0 0 36 7 16.2791 PILRB 0 genome.wustl.edu 37 7 99955866 99955866 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 99955866 99955866 G A SNP PILRB ENST00000448382 human ensembl 74_37 +1 known missense c.307 p.A103T 0.012 NULL NULL - no_errors PILRB HGNC ENSG00000121716 96 0 0 68 6 8.10811 FBXO43 0 genome.wustl.edu 37 8 101146188 101146188 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 101146188 101146188 G T SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.1969 p.L657M 0.997 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 114 0 0 104 30 22.3881 SLC25A32 0 genome.wustl.edu 37 8 104413839 104413839 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 104413839 104413839 G A SNP SLC25A32 ENST00000297578 human ensembl 74_37 -1 known silent c.717 p.V239 0.864 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,prints_Mit_uncoupling - no_errors SLC25A32 HGNC ENSG00000164933 101 0 0 125 22 14.966 RP1L1 0 genome.wustl.edu 37 8 10465175 10465175 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 10465175 10465175 A G SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.6433 p.S2145P 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 354 0 0 300 67 18.2561 RP1L1 0 genome.wustl.edu 37 8 10470245 10470245 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 10470245 10470245 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.1363 p.P455S 0.056 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 60 0 0 69 14 16.8675 RIMS2 0 genome.wustl.edu 37 8 104987622 104987622 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 104987622 104987622 G C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2815 p.V939L 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 37 0 0 43 5 10.4167 DCSTAMP 0 genome.wustl.edu 37 8 105361777 105361777 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 105361777 105361777 G T SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.997 p.G333W 0.004 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 172 0 0 188 30 13.7615 ANGPT1 0 genome.wustl.edu 37 8 108306229 108306229 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 108306229 108306229 T C SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.973 p.T325A 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 102 1 0.970874 144 27 15.7895 PKHD1L1 0 genome.wustl.edu 37 8 110477304 110477304 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 110477304 110477304 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.8243 p.R2748H 1.000 smart_PbH1 pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 112 0 0 125 20 13.7931 SYBU 0 genome.wustl.edu 37 8 110590246 110590246 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 110590246 110590246 C A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.735 p.R245S 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 142 0 0 200 25 11.1111 TRPS1 0 genome.wustl.edu 37 8 116599270 116599270 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 116599270 116599270 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.2658 p.S886 0.023 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 132 0 0 101 25 19.8413 ENSG00000245330 0 genome.wustl.edu 37 8 120886015 120886015 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 120886015 120886015 G A SNP ENSG00000245330 ENST00000500705 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors KB-1471A8.1 Clone_based_vega_gene ENSG00000245330 25 0 0 24 7 22.5806 ZHX2 0 genome.wustl.edu 37 8 123964842 123964842 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 123964842 123964842 G A SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known silent c.1092 p.T364 0.781 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 105 0 0 118 14 10.6061 ATAD2 0 genome.wustl.edu 37 8 124371574 124371574 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 124371574 124371574 T C SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.1269 p.V423 0.998 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 97 0 0 170 22 11.4583 FAM91A1 0 genome.wustl.edu 37 8 124799557 124799557 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 124799557 124799557 G A SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.1135 p.A379T 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 70 0 0 68 15 18.0723 FER1L6 0 genome.wustl.edu 37 8 125078740 125078740 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 125078740 125078740 C T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known silent c.3627 p.N1209 0.414 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 249 0 0 218 48 18.0451 KIAA0196 0 genome.wustl.edu 37 8 126088707 126088707 + Silent SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 126088707 126088707 T G SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known silent c.747 p.T249 0.649 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 74 0 0 85 12 12.3711 POU5F1B 0 genome.wustl.edu 37 8 128428414 128428414 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 128428414 128428414 C T SNP POU5F1B ENST00000391675 human ensembl 74_37 +1 known silent c.303 p.V101 0.001 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 53 0 0 43 8 15.6863 DLC1 0 genome.wustl.edu 37 8 12957275 12957275 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 12957275 12957275 G A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.2571 p.S857 0.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 74 0 0 76 14 15.5556 GSDMC 0 genome.wustl.edu 37 8 130789698 130789698 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 130789698 130789698 G A SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.136 p.R46C 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 98 0 0 124 23 15.6463 KCNQ3 0 genome.wustl.edu 37 8 133492426 133492426 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 133492426 133492426 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.354 p.P118 0.998 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 22 0 0 30 5 14.2857 LRRC6 0 genome.wustl.edu 37 8 133623587 133623587 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 133623587 133623587 C T SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known missense c.997 p.D333N 0.985 superfamily_HSP20-like_chaperone,pfscan_CS_dom superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 36 0 0 50 5 9.09091 SLA 0 genome.wustl.edu 37 8 134072364 134072364 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 134072364 134072364 C T SNP SLA ENST00000427060 human ensembl 74_37 -1 known silent c.162 p.R54 1.000 superfamily_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 193 0 0 234 36 13.3333 NDRG1 0 genome.wustl.edu 37 8 134256618 134256618 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 134256618 134256618 C T SNP NDRG1 ENST00000323851 human ensembl 74_37 -1 known missense c.871 p.G291S 0.999 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 48 0 0 50 9 15.2542 ZFAT 0 genome.wustl.edu 37 8 135614640 135614640 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 135614640 135614640 G A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1322 p.A441V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 92 0 0 87 11 11.2245 FAM135B 0 genome.wustl.edu 37 8 139155273 139155273 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 139155273 139155273 A T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.3620 p.L1207H 1.000 pfam_DUF676_lipase-like,pfam_PGAP1-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 56 0 0 67 12 15.1899 KCNK9 0 genome.wustl.edu 37 8 140630972 140630972 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 140630972 140630972 C T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known silent c.654 p.P218 0.013 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 102 0 0 108 13 10.7438 TRAPPC9 0 genome.wustl.edu 37 8 141297705 141297705 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 141297705 141297705 A G SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known splice_site c.2275+2 e13+2 1.000 - - - no_errors TRAPPC9 HGNC ENSG00000167632 86 0 0 74 14 15.9091 ZC3H3 0 genome.wustl.edu 37 8 144589967 144589967 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 144589967 144589967 G T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.1664 p.P555H 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 71 0 0 85 13 13.2653 SCRIB 0 genome.wustl.edu 37 8 144874388 144874388 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 144874388 144874388 A G SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known splice_site c.4514+2 e32+2 0.997 - - - no_errors SCRIB HGNC ENSG00000180900 14 0 0 13 4 23.5294 SCRIB 0 genome.wustl.edu 37 8 144886086 144886086 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 144886086 144886086 G A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.3145 p.R1049C 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 9 0 0 11 4 26.6667 PUF60 0 genome.wustl.edu 37 8 144898887 144898887 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 144898887 144898887 G T SNP PUF60 ENST00000526683 human ensembl 74_37 -1 known missense c.1483 p.R495S 1.000 smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 248 0 0 244 47 16.1512 EPPK1 0 genome.wustl.edu 37 8 144942560 144942560 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 144942560 144942560 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.4862 p.R1621Q 0.814 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 89 0 0 68 17 20 EPPK1 0 genome.wustl.edu 37 8 144943845 144943845 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 144943845 144943845 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.3577 p.R1193C 0.005 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 11 0 0 13 2 13.3333 PLEC 0 genome.wustl.edu 37 8 144990983 144990983 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 144990983 144990983 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13417 p.V4473I 0.723 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 93 0 0 102 17 14.2857 PLEC 0 genome.wustl.edu 37 8 145006333 145006333 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 145006333 145006333 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.2458 p.L820 0.999 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 31 0 0 43 9 17.3077 PARP10 0 genome.wustl.edu 37 8 145057410 145057410 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 145057410 145057410 G A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.2347 p.R783C 0.813 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 34 0 0 48 7 12.7273 EXOSC4 0 genome.wustl.edu 37 8 145135191 145135191 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 145135191 145135191 C T SNP EXOSC4 ENST00000316052 human ensembl 74_37 +1 known missense c.425 p.A142V 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC4 HGNC ENSG00000178896 45 0 0 60 8 11.7647 MROH1 0 genome.wustl.edu 37 8 145245797 145245797 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 145245797 145245797 G A SNP MROH1 ENST00000326134 human ensembl 74_37 +1 known missense c.673 p.D225N 0.999 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors MROH1 HGNC ENSG00000179832 71 0 0 68 10 12.8205 ADCK5 0 genome.wustl.edu 37 8 145616432 145616432 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 145616432 145616432 G T SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known silent c.642 p.V214 1.000 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 89 0 0 75 10 11.7647 CPSF1 0 genome.wustl.edu 37 8 145624760 145624760 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 145624760 145624760 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.1298 p.A433V 0.858 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 40 0 0 52 8 13.3333 KIFC2 0 genome.wustl.edu 37 8 145698104 145698104 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 145698104 145698104 G A SNP KIFC2 ENST00000301331 human ensembl 74_37 +1 known missense c.827 p.C276Y 0.000 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 17 0 0 25 7 21.875 ZNF517 0 genome.wustl.edu 37 8 146032665 146032665 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 146032665 146032665 C A SNP ZNF517 ENST00000359971 human ensembl 74_37 +1 known missense c.364 p.L122I 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF517 HGNC ENSG00000197363 21 0 0 18 3 14.2857 MTUS1 0 genome.wustl.edu 37 8 17611729 17611729 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 17611729 17611729 C T SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.1588 p.V530I 0.711 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 205 0 0 229 48 17.3285 PCM1 0 genome.wustl.edu 37 8 17823525 17823525 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 17823525 17823525 C T SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.2873 p.P958L 0.983 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 43 0 0 54 9 14.2857 KBTBD11 0 genome.wustl.edu 37 8 1950837 1950837 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 1950837 1950837 C T SNP KBTBD11 ENST00000320248 human ensembl 74_37 +1 known silent c.1479 p.A493 0.991 smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD11 HGNC ENSG00000176595 14 0 0 9 3 25 INTS10 0 genome.wustl.edu 37 8 19677153 19677153 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 19677153 19677153 C T SNP INTS10 ENST00000397977 human ensembl 74_37 +1 known silent c.267 p.N89 0.986 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 53 0 0 81 10 10.989 FAM160B2 0 genome.wustl.edu 37 8 21958199 21958199 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 21958199 21958199 G A SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known missense c.1436 p.R479H 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 169 0 0 152 16 9.52381 LGI3 0 genome.wustl.edu 37 8 22005871 22005871 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 22005871 22005871 C A SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known silent c.1449 p.L483 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 32 0 0 43 6 12.2449 POLR3D 0 genome.wustl.edu 37 8 22106824 22106824 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 22106824 22106824 T C SNP POLR3D ENST00000397802 human ensembl 74_37 +1 known splice_site c.921+2 e6+2 0.994 - - - no_errors POLR3D HGNC ENSG00000168495 67 0 0 83 6 6.74157 SLC39A14 0 genome.wustl.edu 37 8 22267554 22267554 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 22267554 22267554 C A SNP SLC39A14 ENST00000359741 human ensembl 74_37 +1 known missense c.553 p.R185S 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 161 0 0 154 37 19.3717 PPP3CC 0 genome.wustl.edu 37 8 22370819 22370819 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 22370819 22370819 C T SNP PPP3CC ENST00000240139 human ensembl 74_37 +1 known missense c.644 p.T215M 0.698 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 133 0 0 207 33 13.75 RHOBTB2 0 genome.wustl.edu 37 8 22874896 22874896 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 22874896 22874896 C T SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.2098 p.R700C 0.987 NULL pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 43 0 0 41 7 14.5833 ENTPD4 0 genome.wustl.edu 37 8 23299177 23299177 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 23299177 23299177 G A SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known missense c.787 p.R263C 0.998 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 91 0 0 72 17 19.1011 SLC25A37 0 genome.wustl.edu 37 8 23425802 23425802 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 23425802 23425802 G A SNP SLC25A37 ENST00000417331 human ensembl 74_37 +1 known missense c.470 p.R157H 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A37 HGNC ENSG00000147454 116 1 0.854701 126 32 20.2532 NEFL 0 genome.wustl.edu 37 8 24813883 24813883 + RNA SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 24813883 24813883 G T SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NEFL HGNC ENSG00000104725 20 0 0 21 3 12.5 DOCK5 0 genome.wustl.edu 37 8 25253206 25253206 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 25253206 25253206 G A SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.4675 p.V1559I 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 56 0 0 44 5 10.2041 EBF2 0 genome.wustl.edu 37 8 25747347 25747347 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 25747347 25747347 G T SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known silent c.672 p.V224 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 79 0 0 105 16 13.2231 TRIM35 0 genome.wustl.edu 37 8 27145436 27145436 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 27145436 27145436 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known silent c.1113 p.G371 0.091 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 49 0 0 46 9 16.3636 TRIM35 0 genome.wustl.edu 37 8 27145561 27145561 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 27145561 27145561 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known missense c.988 p.R330C 0.974 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 84 0 0 72 13 15.2941 CHRNA2 0 genome.wustl.edu 37 8 27320707 27320707 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 27320707 27320707 T A SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known missense c.1253 p.E418V 0.313 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,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 CHRNA2 HGNC ENSG00000120903 74 0 0 108 14 11.4754 CHRNA2 0 genome.wustl.edu 37 8 27320973 27320973 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 27320973 27320973 G A SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known silent c.987 p.G329 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,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 CHRNA2 HGNC ENSG00000120903 103 0 0 85 11 11.4583 SCARA5 0 genome.wustl.edu 37 8 27737278 27737278 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 27737278 27737278 C T SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known missense c.1159 p.V387M 0.012 superfamily_Srcr_rcpt-rel pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 47 0 0 47 10 17.5439 KIF13B 0 genome.wustl.edu 37 8 29007824 29007824 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 29007824 29007824 G T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.1612 p.H538N 1.000 superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 13 0 0 22 4 15.3846 CSMD1 0 genome.wustl.edu 37 8 3046521 3046521 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 3046521 3046521 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5414 p.G1805V 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 27 0 0 30 8 21.0526 TEX15 0 genome.wustl.edu 37 8 30702408 30702408 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 30702408 30702408 G A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known nonsense c.4126 p.Q1376* 0.023 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 86 0 0 143 30 17.341 TEX15 0 genome.wustl.edu 37 8 30703828 30703828 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 30703828 30703828 G T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.2706 p.D902E 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 90 0 0 129 11 7.85714 PURG 0 genome.wustl.edu 37 8 30889409 30889409 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 30889409 30889409 C T SNP PURG ENST00000475541 human ensembl 74_37 -1 known missense c.890 p.R297H 1.000 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 32 0 0 39 4 9.30233 CSMD1 0 genome.wustl.edu 37 8 3263662 3263662 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 3263662 3263662 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2156 p.S719L 1.000 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 31 0 0 29 8 21.6216 RNF122 0 genome.wustl.edu 37 8 33416236 33416236 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 33416236 33416236 G A SNP RNF122 ENST00000256257 human ensembl 74_37 -1 known missense c.79 p.P27S 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF122 HGNC ENSG00000133874 57 0 0 73 10 12.0482 ADRB3 0 genome.wustl.edu 37 8 37823915 37823915 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 37823915 37823915 C T SNP ADRB3 ENST00000345060 human ensembl 74_37 -1 known missense c.73 p.A25T 0.263 prints_ADRB3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB3_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB3 HGNC ENSG00000188778 14 0 0 30 9 23.0769 BAG4 0 genome.wustl.edu 37 8 38065194 38065194 + Silent SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 38065194 38065194 T G SNP BAG4 ENST00000287322 human ensembl 74_37 +1 known silent c.543 p.T181 0.060 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 86 0 0 88 17 16.1905 FGFR1 0 genome.wustl.edu 37 8 38272116 38272116 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 38272116 38272116 T C SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.2102 p.E701G 1.000 pirsf_FGF_rcpt_fam,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 70 0 0 71 9 11.25 KAT6A 0 genome.wustl.edu 37 8 41791371 41791371 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 41791371 41791371 A G SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.4367 p.L1456P 0.999 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 120 0 0 165 22 11.7647 KAT6A 0 genome.wustl.edu 37 8 41798364 41798364 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 41798364 41798364 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.3035 p.R1012Q 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 264 0 0 306 50 14.0449 CHRNA6 0 genome.wustl.edu 37 8 42611206 42611206 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 42611206 42611206 G A SNP CHRNA6 ENST00000276410 human ensembl 74_37 -1 known missense c.1136 p.A379V 0.229 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,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 CHRNA6 HGNC ENSG00000147434 89 0 0 90 21 18.9189 PXDNL 0 genome.wustl.edu 37 8 52322022 52322022 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 52322022 52322022 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2162 p.R721Q 0.970 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 47 0 0 53 9 14.5161 OPRK1 0 genome.wustl.edu 37 8 54163444 54163444 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 54163444 54163444 C G SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.154 p.A52P 0.861 prints_Kappa_opi_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 34 0 0 49 10 16.9492 ATP6V1H 0 genome.wustl.edu 37 8 54708293 54708293 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 54708293 54708293 G A SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known missense c.784 p.R262C 0.998 pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 84 0 0 115 22 16.0584 LYPLA1 0 genome.wustl.edu 37 8 54978307 54978307 + Splice_Site SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 54978307 54978307 C T SNP LYPLA1 ENST00000316963 human ensembl 74_37 -1 known splice_site c.167+1 e3+1 1.000 - - - no_errors LYPLA1 HGNC ENSG00000120992 46 0 0 63 12 16 RP1 0 genome.wustl.edu 37 8 55533673 55533673 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 55533673 55533673 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.147 p.G49 0.000 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 101 0 0 141 19 11.875 RP1 0 genome.wustl.edu 37 8 55541306 55541306 + Nonsense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 55541306 55541306 G T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known nonsense c.4864 p.E1622* 0.964 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 113 0 0 144 20 12.1951 PENK 0 genome.wustl.edu 37 8 57354427 57354427 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 57354427 57354427 G A SNP PENK ENST00000314922 human ensembl 74_37 -1 known nonsense c.208 p.Q70* 1.000 pfam_Opioid_neupept,prints_Proenkphlin_A pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 132 0 0 178 20 10.101 PENK 0 genome.wustl.edu 37 8 57358454 57358454 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 57358454 57358454 G A SNP PENK ENST00000314922 human ensembl 74_37 -1 known missense c.59 p.A20V 0.696 pfam_Opioid_neupept,prints_Proenkphlin_A pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 51 0 0 43 9 17.3077 ASPH 0 genome.wustl.edu 37 8 62465665 62465665 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 62465665 62465665 G A SNP ASPH ENST00000379454 human ensembl 74_37 -1 known silent c.1551 p.S517 0.508 pfscan_TPR-contain_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 168 0 0 200 40 16.6667 ANGPT2 0 genome.wustl.edu 37 8 6366532 6366532 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 6366532 6366532 G A SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known silent c.1251 p.S417 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 96 0 0 140 8 5.40541 MIR124-2 0 genome.wustl.edu 37 8 65291801 65291801 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 65291801 65291801 C T SNP MIR124-2 ENST00000385081 human ensembl 74_37 +1 known rna NULL NULL 0.051 - - - no_errors MIR124-2 HGNC ENSG00000207816 36 0 0 36 4 10 TRIM55 0 genome.wustl.edu 37 8 67064625 67064625 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 67064625 67064625 A T SNP TRIM55 ENST00000315962 human ensembl 74_37 +1 known missense c.999 p.E333D 0.997 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC ENSG00000147573 19 0 0 20 5 20 VCPIP1 0 genome.wustl.edu 37 8 67547317 67547317 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 67547317 67547317 G C SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.3088 p.H1030D 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 177 0 0 261 42 13.8614 ARFGEF1 0 genome.wustl.edu 37 8 68179131 68179131 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 68179131 68179131 G T SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.1901 p.P634H 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 35 0 0 51 7 12.069 ARFGEF1 0 genome.wustl.edu 37 8 68213459 68213459 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 68213459 68213459 C A SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.312 p.Q104H 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 67 0 0 99 17 14.6552 CPA6 0 genome.wustl.edu 37 8 68396943 68396943 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 68396943 68396943 C T SNP CPA6 ENST00000297770 human ensembl 74_37 -1 known missense c.718 p.V240I 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 59 0 0 90 15 14.2857 CPA6 0 genome.wustl.edu 37 8 68421815 68421815 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 68421815 68421815 T C SNP CPA6 ENST00000297770 human ensembl 74_37 -1 known silent c.471 p.S157 0.997 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 80 0 0 105 17 13.9344 EYA1 0 genome.wustl.edu 37 8 72211324 72211324 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 72211324 72211324 G A SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.784 p.P262S 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 94 0 0 106 15 12.3967 MSC 0 genome.wustl.edu 37 8 72754719 72754719 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 72754719 72754719 C T SNP MSC ENST00000518440 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors MSC HGNC ENSG00000178860 62 0 0 59 13 18.0556 PI15 0 genome.wustl.edu 37 8 75737735 75737735 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 75737735 75737735 C T SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.251 p.P84L 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 47 0 0 70 11 13.5802 ZFHX4 0 genome.wustl.edu 37 8 77766976 77766976 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 77766976 77766976 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.7819 p.R2607C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 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 ZFHX4 HGNC ENSG00000091656 53 0 0 40 9 18.3673 PEX2 0 genome.wustl.edu 37 8 77895611 77895611 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 77895611 77895611 A G SNP PEX2 ENST00000357039 human ensembl 74_37 -1 known silent c.804 p.A268 0.963 smart_Znf_RING,pfscan_Znf_RING pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 102 0 0 130 25 16.129 ZC2HC1A 0 genome.wustl.edu 37 8 79609706 79609706 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 79609706 79609706 T C SNP ZC2HC1A ENST00000263849 human ensembl 74_37 +1 known missense c.569 p.L190S 1.000 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 71 0 0 76 18 19.1489 HEY1 0 genome.wustl.edu 37 8 80677870 80677870 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 80677870 80677870 C T SNP HEY1 ENST00000337919 human ensembl 74_37 -1 known silent c.480 p.S160 0.004 pfam_Orange,smart_Orange_subgr,pfscan_Orange pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEY1 HGNC ENSG00000164683 81 0 0 98 18 15.5172 HEY1 0 genome.wustl.edu 37 8 80677994 80677994 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 80677994 80677994 G A SNP HEY1 ENST00000337919 human ensembl 74_37 -1 known missense c.356 p.A119V 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEY1 HGNC ENSG00000164683 64 0 0 72 16 18.1818 SGK223 0 genome.wustl.edu 37 8 8176405 8176405 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 8176405 8176405 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.3480 p.P1160 0.035 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 53 0 0 48 16 25 FABP9 0 genome.wustl.edu 37 8 82373717 82373717 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 82373717 82373717 A G SNP FABP9 ENST00000379071 human ensembl 74_37 -1 known silent c.42 p.S14 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP9 HGNC ENSG00000205186 119 0 0 200 26 11.5044 IMPA1 0 genome.wustl.edu 37 8 82591433 82591433 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 82591433 82591433 T C SNP IMPA1 ENST00000449740 human ensembl 74_37 -1 known missense c.407 p.E136G 0.269 pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase - no_errors IMPA1 HGNC ENSG00000133731 57 0 0 76 15 16.4835 CA13 0 genome.wustl.edu 37 8 86171714 86171714 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 86171714 86171714 C T SNP CA13 ENST00000321764 human ensembl 74_37 +1 known silent c.300 p.S100 0.000 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 CA13 HGNC ENSG00000185015 95 0 0 106 16 13.1148 CNBD1 0 genome.wustl.edu 37 8 88296993 88296993 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 88296993 88296993 G A SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.859 p.D287N 0.613 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 12 0 0 19 3 13.6364 OTUD6B 0 genome.wustl.edu 37 8 92090768 92090768 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 92090768 92090768 T G SNP OTUD6B ENST00000285420 human ensembl 74_37 +1 known missense c.590 p.L197R 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 21 0 0 17 5 22.7273 RUNX1T1 0 genome.wustl.edu 37 8 92998502 92998502 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 92998502 92998502 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1162 p.V388I 1.000 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 128 0 0 130 36 21.6867 TNKS 0 genome.wustl.edu 37 8 9413606 9413606 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 9413606 9413606 C A SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.157 p.L53M 0.532 NULL pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 39 0 0 43 7 14 RBM12B 0 genome.wustl.edu 37 8 94746311 94746311 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 94746311 94746311 C T SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known silent c.2328 p.P776 0.139 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 120 0 0 135 23 14.557 INTS8 0 genome.wustl.edu 37 8 95892358 95892358 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 95892358 95892358 G A SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.2884 p.G962S 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 89 0 0 112 21 15.7895 MTERFD1 0 genome.wustl.edu 37 8 97251915 97251915 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 97251915 97251915 T C SNP MTERFD1 ENST00000287025 human ensembl 74_37 -1 known splice_site c.1060-2 e7-2 0.999 - - - no_errors MTERFD1 HGNC ENSG00000156469 26 0 0 49 6 10.9091 STK3 0 genome.wustl.edu 37 8 99560281 99560281 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 99560281 99560281 G T SNP STK3 ENST00000419617 human ensembl 74_37 -1 known missense c.1057 p.H353N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom - no_errors STK3 HGNC ENSG00000104375 35 0 0 47 5 9.61538 TDRD7 0 genome.wustl.edu 37 9 100249529 100249529 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 100249529 100249529 C T SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known silent c.2991 p.H997 0.898 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 119 0 0 64 17 20.9877 ANKS6 0 genome.wustl.edu 37 9 101540525 101540525 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 101540525 101540525 G T SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.1550 p.P517H 0.025 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 68 0 0 31 17 35.4167 INVS 0 genome.wustl.edu 37 9 103002432 103002432 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 103002432 103002432 G A SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.706 p.V236M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 104 0 0 67 19 22.093 ABCA1 0 genome.wustl.edu 37 9 107618220 107618220 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 107618220 107618220 G A SNP ABCA1 ENST00000423487 human ensembl 74_37 -1 known silent c.870 p.H290 0.000 NULL NULL - no_errors ABCA1 HGNC ENSG00000165029 84 0 0 59 13 18.0556 KLF4 0 genome.wustl.edu 37 9 110249393 110249393 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 110249393 110249393 C T SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known missense c.1180 p.A394T 0.955 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 156 0 0 108 37 25.5172 FRRS1L 0 genome.wustl.edu 37 9 111899876 111899876 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 111899876 111899876 C T SNP FRRS1L ENST00000561981 human ensembl 74_37 -1 known silent c.894 p.P298 0.293 smart_DOMON_domain pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain - no_errors FRRS1L HGNC ENSG00000260230 129 1 0.769231 83 27 24.5455 PTPN3 0 genome.wustl.edu 37 9 112141873 112141873 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 112141873 112141873 T C SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.2705 p.Y902C 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 49 0 0 43 18 29.5082 ZNF483 0 genome.wustl.edu 37 9 114304406 114304406 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 114304406 114304406 A G SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known missense c.1191 p.I397M 0.002 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 118 0 0 92 37 28.6822 SLC46A2 0 genome.wustl.edu 37 9 115651926 115651926 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 115651926 115651926 G A SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known missense c.1036 p.R346W 0.993 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 57 0 0 32 3 8.57143 AKNA 0 genome.wustl.edu 37 9 117104360 117104360 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 117104360 117104360 G A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.3803 p.T1268I 0.001 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 55 0 0 21 8 27.5862 TRIM32 0 genome.wustl.edu 37 9 119460614 119460614 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 119460614 119460614 A G SNP TRIM32 ENST00000373983 human ensembl 74_37 +1 known missense c.593 p.E198G 1.000 NULL pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 54 0 0 36 8 18.1818 CNTRL 0 genome.wustl.edu 37 9 123907626 123907626 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 123907626 123907626 T C SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known silent c.3273 p.I1091 0.008 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 114 0 0 79 20 20.202 PTGS1 0 genome.wustl.edu 37 9 125141066 125141066 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 125141066 125141066 T G SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.365 p.L122R 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 59 0 0 25 11 30.5556 PTGS1 0 genome.wustl.edu 37 9 125154761 125154761 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 125154761 125154761 C T SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.1738 p.R580C 0.983 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 97 0 0 59 22 27.1605 ZBTB6 0 genome.wustl.edu 37 9 125673316 125673316 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 125673316 125673316 G A SNP ZBTB6 ENST00000373659 human ensembl 74_37 -1 known nonsense c.1036 p.R346* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 102 1 0.970874 55 20 26.6667 CRB2 0 genome.wustl.edu 37 9 126125459 126125459 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 126125459 126125459 G T SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.410 p.G137V 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 22 0 0 17 4 19.0476 LURAP1L 0 genome.wustl.edu 37 9 12821554 12821554 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 12821554 12821554 G A SNP LURAP1L ENST00000319264 human ensembl 74_37 +1 known missense c.482 p.R161H 0.295 NULL NULL - no_errors LURAP1L HGNC ENSG00000153714 98 0 0 83 32 27.8261 ZNF79 0 genome.wustl.edu 37 9 130191185 130191185 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 130191185 130191185 A G SNP ZNF79 ENST00000342483 human ensembl 74_37 +1 known missense c.91 p.T31A 0.014 superfamily_Krueppel-associated_box pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 29 0 0 14 4 22.2222 ZNF79 0 genome.wustl.edu 37 9 130207427 130207427 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 130207427 130207427 G A SNP ZNF79 ENST00000342483 human ensembl 74_37 +1 known missense c.1448 p.R483Q 0.065 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 216 0 0 122 35 22.293 ST6GALNAC6 0 genome.wustl.edu 37 9 130653012 130653012 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 130653012 130653012 G A SNP ST6GALNAC6 ENST00000291839 human ensembl 74_37 -1 known missense c.608 p.A203V 0.998 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 87 0 0 51 16 23.8806 SET 0 genome.wustl.edu 37 9 131455933 131455933 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 131455933 131455933 C T SNP SET ENST00000372692 human ensembl 74_37 +1 known missense c.548 p.S183L 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC ENSG00000119335 48 0 0 22 11 33.3333 PKN3 0 genome.wustl.edu 37 9 131475348 131475348 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 131475348 131475348 C A SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known missense c.853 p.L285I 0.995 superfamily_C2_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 77 0 0 43 10 18.8679 LRRC8A 0 genome.wustl.edu 37 9 131670480 131670480 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 131670480 131670480 G A SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known missense c.1037 p.R346H 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 96 0 0 52 20 27.7778 ABL1 0 genome.wustl.edu 37 9 133755916 133755916 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 133755916 133755916 G A SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known missense c.1600 p.V534I 0.000 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 50 0 0 34 16 32 LAMC3 0 genome.wustl.edu 37 9 133901842 133901842 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 133901842 133901842 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.544 p.G182S 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 77 0 0 30 12 28.5714 LAMC3 0 genome.wustl.edu 37 9 133928327 133928327 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 133928327 133928327 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.1914 p.R638 0.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 43 0 0 30 4 11.7647 UCK1 0 genome.wustl.edu 37 9 134401490 134401490 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 134401490 134401490 G A SNP UCK1 ENST00000484876 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors UCK1 HGNC ENSG00000130717 22 0 0 18 8 30.7692 RXRA 0 genome.wustl.edu 37 9 137313626 137313626 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 137313626 137313626 C T SNP RXRA ENST00000481739 human ensembl 74_37 +1 known silent c.885 p.D295 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 63 0 0 49 9 15.5172 COL5A1 0 genome.wustl.edu 37 9 137622298 137622298 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 137622298 137622298 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.1141 p.A381T 0.000 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 112 0 0 72 23 24.2105 PPP1R26 0 genome.wustl.edu 37 9 138378033 138378033 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 138378033 138378033 G A SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known silent c.1677 p.P559 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 173 0 0 131 35 21.0843 UBAC1 0 genome.wustl.edu 37 9 138825193 138825193 + RNA SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 138825193 138825193 C T SNP UBAC1 ENST00000489050 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors UBAC1 HGNC ENSG00000130560 52 0 0 32 8 20 NOTCH1 0 genome.wustl.edu 37 9 139393380 139393380 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 139393380 139393380 C A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.6151 p.G2051W 0.998 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 185 0 0 107 35 24.6479 RABL6 0 genome.wustl.edu 37 9 139726288 139726288 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 139726288 139726288 C T SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.574 p.R192C 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 29 0 0 19 5 20.8333 C9orf172 0 genome.wustl.edu 37 9 139741054 139741054 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 139741054 139741054 G A SNP C9orf172 ENST00000436881 human ensembl 74_37 +1 known missense c.2188 p.G730S 0.911 NULL NULL - no_errors C9orf172 HGNC ENSG00000232434 29 0 0 28 5 15.1515 TUBB4B 0 genome.wustl.edu 37 9 140137440 140137440 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 140137440 140137440 T C SNP TUBB4B ENST00000340384 human ensembl 74_37 +1 known missense c.770 p.M257T 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC ENSG00000188229 59 0 0 48 10 17.2414 TUBB4B 0 genome.wustl.edu 37 9 140137949 140137949 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 140137949 140137949 G A SNP TUBB4B ENST00000340384 human ensembl 74_37 +1 known missense c.1279 p.D427N 1.000 superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC ENSG00000188229 164 0 0 88 27 23.4783 CNTLN 0 genome.wustl.edu 37 9 17135073 17135073 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 17135073 17135073 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.10 p.R4C 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 16 0 0 5 3 37.5 ADAMTSL1 0 genome.wustl.edu 37 9 18777173 18777173 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 18777173 18777173 G A SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel silent c.2946 p.A982 0.000 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 61 0 0 42 15 26.3158 IFT74 0 genome.wustl.edu 37 9 26984355 26984355 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 26984355 26984355 T C SNP IFT74 ENST00000380062 human ensembl 74_37 +1 known splice_site c.404+2 e4+2 1.000 - - - no_errors IFT74 HGNC ENSG00000096872 50 0 0 26 10 27.7778 PTENP1 0 genome.wustl.edu 37 9 33675326 33675326 + RNA SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 33675326 33675326 T C SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 17 0 0 12 2 14.2857 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 37 0 0 18 4 18.1818 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 44 0 0 32 3 8.57143 UBAP2 0 genome.wustl.edu 37 9 33935767 33935767 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 33935767 33935767 A G SNP UBAP2 ENST00000379225 human ensembl 74_37 -1 known missense c.938 p.V313A 0.000 NULL pfam_DUF3697_Uba2 - no_errors UBAP2 HGNC ENSG00000137073 50 0 0 36 13 26.5306 UBAP2 0 genome.wustl.edu 37 9 33996302 33996302 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 33996302 33996302 A G SNP UBAP2 ENST00000360802 human ensembl 74_37 -1 known silent c.207 p.D69 1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 73 0 0 78 23 22.7723 DCAF12 0 genome.wustl.edu 37 9 34098435 34098435 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 34098435 34098435 G A SNP DCAF12 ENST00000361264 human ensembl 74_37 -1 known missense c.682 p.R228W 0.011 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 116 0 0 69 29 29.5918 DNAI1 0 genome.wustl.edu 37 9 34491509 34491509 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 34491509 34491509 C T SNP DNAI1 ENST00000242317 human ensembl 74_37 +1 known missense c.638 p.T213M 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 53 0 0 29 8 21.6216 GALT 0 genome.wustl.edu 37 9 34648866 34648866 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 34648866 34648866 T C SNP GALT ENST00000378842 human ensembl 74_37 +1 known silent c.795 p.P265 0.999 pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 - no_errors GALT HGNC ENSG00000213930 93 0 0 67 18 21.1765 TLN1 0 genome.wustl.edu 37 9 35719202 35719202 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 35719202 35719202 G A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.1765 p.R589C 1.000 pfam_Talin_cent,superfamily_Talin_cent pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 48 0 0 18 5 21.7391 RNF38 0 genome.wustl.edu 37 9 36357922 36357922 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 36357922 36357922 G A SNP RNF38 ENST00000259605 human ensembl 74_37 -1 known silent c.588 p.V196 0.377 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 78 0 0 63 15 19.2308 MELK 0 genome.wustl.edu 37 9 36671000 36671000 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 36671000 36671000 G A SNP MELK ENST00000298048 human ensembl 74_37 +1 known missense c.1511 p.R504H 0.992 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,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 MELK HGNC ENSG00000165304 83 0 0 62 11 15.0685 GLIS3 0 genome.wustl.edu 37 9 3856161 3856161 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 3856161 3856161 G A SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known missense c.2321 p.P774L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 46 0 0 27 10 27.027 RLN1 0 genome.wustl.edu 37 9 5339637 5339637 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 5339637 5339637 C T SNP RLN1 ENST00000223862 human ensembl 74_37 -1 known missense c.110 p.R37H 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN1 HGNC ENSG00000107018 67 0 0 43 15 25.8621 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 74 0 0 96 10 9.43396 TJP2 0 genome.wustl.edu 37 9 71831301 71831301 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 71831301 71831301 A C SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.254 p.N85T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 78 0 0 36 12 25 TJP2 0 genome.wustl.edu 37 9 71866280 71866280 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 71866280 71866280 G T SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.3414 p.R1138S 1.000 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 45 0 0 27 9 25 KANK1 0 genome.wustl.edu 37 9 742369 742369 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 742369 742369 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.3861 p.L1287 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 73 0 0 51 19 27.1429 TRPM6 0 genome.wustl.edu 37 9 77353400 77353400 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 77353400 77353400 A C SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.5711 p.L1904R 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 107 0 0 67 23 25.5556 RMI1 0 genome.wustl.edu 37 9 86617331 86617331 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 86617331 86617331 G A SNP RMI1 ENST00000325875 human ensembl 74_37 +1 known missense c.1430 p.S477N 0.001 NULL pfam_DUF1767 - no_errors RMI1 HGNC ENSG00000178966 82 0 0 70 17 19.5402 AGTPBP1 0 genome.wustl.edu 37 9 88257780 88257780 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 88257780 88257780 A G SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.1300 p.Y434H 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 89 0 0 89 18 16.8224 GAS1 0 genome.wustl.edu 37 9 89560899 89560899 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 89560899 89560899 C T SNP GAS1 ENST00000298743 human ensembl 74_37 -1 known missense c.796 p.D266N 1.000 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GAS1 HGNC ENSG00000180447 20 0 0 12 4 25 ROR2 0 genome.wustl.edu 37 9 94495526 94495526 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 94495526 94495526 C T SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.815 p.R272H 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Frizzled_dom,pfscan_Frizzled_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 37 0 0 16 3 15.7895 ANKRD19P 0 genome.wustl.edu 37 9 95576331 95576331 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 95576331 95576331 T C SNP ANKRD19P ENST00000460854 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.957 - - - no_errors ANKRD19P HGNC ENSG00000187984 16 0 0 15 4 21.0526 FGD3 0 genome.wustl.edu 37 9 95784613 95784613 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 95784613 95784613 C T SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.1499 p.T500M 0.001 superfamily_Znf_FYVE_PHD pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 66 0 0 42 13 23.6364 NINJ1 0 genome.wustl.edu 37 9 95888893 95888893 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 95888893 95888893 G A SNP NINJ1 ENST00000375446 human ensembl 74_37 -1 known missense c.103 p.P35S 1.000 NULL pfam_Ninjurin - no_errors NINJ1 HGNC ENSG00000131669 60 0 0 40 13 24.5283 BARX1 0 genome.wustl.edu 37 9 96715441 96715441 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 96715441 96715441 C T SNP BARX1 ENST00000253968 human ensembl 74_37 -1 known silent c.252 p.V84 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors BARX1 HGNC ENSG00000131668 8 0 0 6 2 25 DMRT3 0 genome.wustl.edu 37 9 977137 977137 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 977137 977137 C T SNP DMRT3 ENST00000190165 human ensembl 74_37 +1 known missense c.136 p.R46C 1.000 pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 41 0 0 16 4 20 PTCH1 0 genome.wustl.edu 37 9 98215807 98215807 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 98215807 98215807 C T SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.3402 p.L1134 0.875 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 94 0 0 60 15 20 PTCH1 0 genome.wustl.edu 37 9 98239083 98239083 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 98239083 98239083 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.1560 p.H520 0.995 pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 38 0 0 31 5 13.8889 ZNF782 0 genome.wustl.edu 37 9 99607190 99607190 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 99607190 99607190 T C SNP ZNF782 ENST00000481138 human ensembl 74_37 -1 known missense c.124 p.S42G 0.999 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF782 HGNC ENSG00000196597 96 0 0 46 9 16.3636 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 83983 83983 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 GL000209.1 83983 83983 G A SNP KIR2DL2 ENST00000400847 human ensembl 74_37 +1 known silent c.1152 p.Q384 NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 81 0 0 39 71 64.5455 WWC3 0 genome.wustl.edu 37 X 10077879 10077879 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 10077879 10077879 G A SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.793 p.E265K 0.999 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 157 0 0 120 25 17.2414 PLP1 0 genome.wustl.edu 37 X 103045491 103045491 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 103045491 103045491 G A SNP PLP1 ENST00000303958 human ensembl 74_37 +1 known missense c.799 p.V267I 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors PLP1 HGNC ENSG00000123560 212 1 0.469484 142 32 18.3908 COL4A5 0 genome.wustl.edu 37 X 107938087 107938087 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 107938087 107938087 C T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.4757 p.T1586M 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 117 0 0 78 21 21.2121 IRS4 0 genome.wustl.edu 37 X 107976681 107976681 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 107976681 107976681 C G SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.2894 p.G965A 0.663 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 262 0 0 215 57 20.9559 RGAG1 0 genome.wustl.edu 37 X 109694182 109694182 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 109694182 109694182 C T SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.337 p.L113 0.301 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 251 1 0.396825 152 49 24.3781 CHRDL1 0 genome.wustl.edu 37 X 109924728 109924728 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 109924728 109924728 C T SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known missense c.1138 p.V380I 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 129 0 0 103 35 25.3623 ALG13 0 genome.wustl.edu 37 X 110925365 110925365 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 110925365 110925365 C T SNP ALG13 ENST00000371979 human ensembl 74_37 +1 known silent c.87 p.I29 0.018 pfam_Glyco_trans_28_C pfam_Glyco_trans_28_C - no_errors ALG13 HGNC ENSG00000101901 166 0 0 135 42 23.7288 ARHGAP6 0 genome.wustl.edu 37 X 11187743 11187743 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 11187743 11187743 T C SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known missense c.1691 p.H564R 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 127 0 0 84 25 22.9358 AMOT 0 genome.wustl.edu 37 X 112024224 112024224 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 112024224 112024224 A G SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.2363 p.L788P 1.000 pfam_Angiomotin_C pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 328 0 0 201 50 19.9203 WDR44 0 genome.wustl.edu 37 X 117512387 117512387 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 117512387 117512387 C A SNP WDR44 ENST00000254029 human ensembl 74_37 +1 known missense c.83 p.P28Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 117 0 0 88 21 19.2661 LONRF3 0 genome.wustl.edu 37 X 118147118 118147118 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 118147118 118147118 G A SNP LONRF3 ENST00000371628 human ensembl 74_37 +1 known missense c.1928 p.R643Q 0.998 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC ENSG00000175556 134 0 0 97 12 11.0092 NKRF 0 genome.wustl.edu 37 X 118724535 118724535 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 118724535 118724535 G A SNP NKRF ENST00000542113 human ensembl 74_37 -1 known missense c.898 p.R300W 0.971 NULL pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 161 0 0 105 31 22.7941 ZBTB33 0 genome.wustl.edu 37 X 119389084 119389084 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 119389084 119389084 G A SNP ZBTB33 ENST00000326624 human ensembl 74_37 +1 known missense c.1814 p.S605N 0.949 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 ZBTB33 HGNC ENSG00000177485 113 0 0 121 28 18.7919 CT47B1 0 genome.wustl.edu 37 X 120009305 120009305 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 120009305 120009305 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.220 p.A74T 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 75 0 0 57 20 25.974 TENM1 0 genome.wustl.edu 37 X 123615689 123615689 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 123615689 123615689 T A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.3842 p.K1281M 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 133 0 0 87 18 17.1429 DCAF12L2 0 genome.wustl.edu 37 X 125299723 125299723 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 125299723 125299723 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.185 p.A62V 0.006 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 73 0 0 38 9 19.1489 DCAF12L1 0 genome.wustl.edu 37 X 125685267 125685267 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 125685267 125685267 T G SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.1325 p.K442T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 217 0 0 116 27 18.8811 HS6ST2 0 genome.wustl.edu 37 X 131762995 131762995 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 131762995 131762995 G A SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known silent c.1194 p.S398 0.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 40 0 0 26 6 18.75 MAP7D3 0 genome.wustl.edu 37 X 135318440 135318440 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 135318440 135318440 C T SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known silent c.645 p.S215 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 123 0 0 95 18 15.9292 GPR101 0 genome.wustl.edu 37 X 136113787 136113787 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 136113787 136113787 T C SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.47 p.H16R 0.050 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 85 0 0 56 25 30.8642 MAGEC1 0 genome.wustl.edu 37 X 140993325 140993325 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 140993325 140993325 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.135 p.D45 0.225 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 241 0 0 136 36 20.9302 AFF2 0 genome.wustl.edu 37 X 148037280 148037280 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 148037280 148037280 C T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known nonsense c.1705 p.Q569* 0.998 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 287 0 0 215 62 22.3827 MAMLD1 0 genome.wustl.edu 37 X 149671788 149671788 + Splice_Site SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 149671788 149671788 G C SNP MAMLD1 ENST00000262858 human ensembl 74_37 +1 known splice_site c.2284+1 e5+1 0.995 - - - no_errors MAMLD1 HGNC ENSG00000013619 13 0 0 11 4 26.6667 CD99L2 0 genome.wustl.edu 37 X 149983348 149983348 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 149983348 149983348 A G SNP CD99L2 ENST00000370377 human ensembl 74_37 -1 known silent c.264 p.G88 0.003 NULL pfam_CD99L2 - no_errors CD99L2 HGNC ENSG00000102181 216 0 0 132 46 25.8427 MAGEA6 0 genome.wustl.edu 37 X 151870140 151870140 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 151870140 151870140 C T SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known missense c.830 p.A277V 0.172 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 340 0 0 202 76 27.3381 ATP2B3 0 genome.wustl.edu 37 X 152835118 152835118 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 152835118 152835118 C T SNP ATP2B3 ENST00000359149 human ensembl 74_37 +1 known missense c.3400 p.R1134W 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,pfam_ATP_Ca_trans_C,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 ATP2B3 HGNC ENSG00000067842 255 0 0 187 49 20.7627 PDZD4 0 genome.wustl.edu 37 X 153070218 153070218 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 153070218 153070218 G A SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known silent c.900 p.D300 0.865 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 75 0 0 47 17 26.5625 L1CAM 0 genome.wustl.edu 37 X 153137620 153137620 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 153137620 153137620 C T SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.393 p.R131 0.973 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 78 0 0 54 13 19.403 PIGA 0 genome.wustl.edu 37 X 15349840 15349840 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 15349840 15349840 G A SNP PIGA ENST00000333590 human ensembl 74_37 -1 known silent c.213 p.T71 1.000 NULL pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 169 0 0 119 39 24.6835 RPL10 0 genome.wustl.edu 37 X 153628830 153628830 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 153628830 153628830 T C SNP RPL10 ENST00000344746 human ensembl 74_37 +1 known missense c.355 p.F119L 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10 HGNC ENSG00000147403 204 0 0 137 44 24.3094 CLIC2 0 genome.wustl.edu 37 X 154507295 154507295 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 154507295 154507295 C T SNP CLIC2 ENST00000369449 human ensembl 74_37 -1 known missense c.641 p.R214H 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC2 HGNC ENSG00000155962 108 0 0 61 17 21.7949 AP1S2 0 genome.wustl.edu 37 X 15845479 15845479 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 15845479 15845479 C T SNP AP1S2 ENST00000329235 human ensembl 74_37 -1 known missense c.443 p.R148H 1.000 pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S2 HGNC ENSG00000182287 91 0 0 65 18 21.6867 BEND2 0 genome.wustl.edu 37 X 18221769 18221769 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 18221769 18221769 A G SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known silent c.759 p.A253 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 151 0 0 83 30 26.5487 PHKA2 0 genome.wustl.edu 37 X 18923920 18923920 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 18923920 18923920 A G SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.2864 p.L955P 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 162 0 0 148 33 18.232 PHKA2 0 genome.wustl.edu 37 X 18925176 18925176 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 18925176 18925176 C T SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.2557 p.V853M 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 10 0 0 12 4 25 GPR64 0 genome.wustl.edu 37 X 19028804 19028804 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 19028804 19028804 C T SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.1192 p.A398T 0.483 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 182 0 0 104 28 21.2121 YY2 0 genome.wustl.edu 37 X 21875629 21875629 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 21875629 21875629 T C SNP YY2 ENST00000429584 human ensembl 74_37 +1 known missense c.1027 p.C343R 0.999 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 377 0 0 295 81 21.5426 KLHL15 0 genome.wustl.edu 37 X 24006748 24006748 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 24006748 24006748 G A SNP KLHL15 ENST00000328046 human ensembl 74_37 -1 known missense c.1105 p.R369C 0.998 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 132 0 0 122 42 25.6098 ZBED1 0 genome.wustl.edu 37 X 2408490 2408490 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 2408490 2408490 C T SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.271 p.A91T 1.000 NULL pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 124 0 0 86 21 19.6262 ARSE 0 genome.wustl.edu 37 X 2856237 2856237 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 2856237 2856237 G A SNP ARSE ENST00000545496 human ensembl 74_37 -1 known silent c.1263 p.P421 0.882 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 94 0 0 64 14 17.9487 PPP2R3B 0 genome.wustl.edu 37 X 299362 299362 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 299362 299362 A G SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.1554 p.T518 0.890 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 31 0 0 30 5 14.2857 MAGEB1 0 genome.wustl.edu 37 X 30269562 30269562 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 30269562 30269562 C T SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known nonsense c.952 p.R318* 0.001 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 122 0 0 94 28 22.9508 DMD 0 genome.wustl.edu 37 X 31198593 31198593 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 31198593 31198593 C A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.9980 p.R3327M 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_Znf_ZZ pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 53 0 0 41 10 19.6078 PPP2R3B 0 genome.wustl.edu 37 X 322257 322257 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 322257 322257 G A SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.393 p.P131 0.994 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 101 0 0 79 10 11.236 MXRA5 0 genome.wustl.edu 37 X 3261813 3261813 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 3261813 3261813 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.62 p.P21L 0.306 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 34 0 0 36 14 28 FAM47B 0 genome.wustl.edu 37 X 34962518 34962518 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 34962518 34962518 C T SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.1570 p.R524W 0.000 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 121 0 0 87 29 25 FAM47C 0 genome.wustl.edu 37 X 37027784 37027784 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 37027784 37027784 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1301 p.R434H 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 183 0 0 121 42 25.7669 USP9X 0 genome.wustl.edu 37 X 41060361 41060361 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 41060361 41060361 G A SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.4652 p.R1551H 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 66 0 0 51 11 17.7419 DDX3X 0 genome.wustl.edu 37 X 41202520 41202520 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 41202520 41202520 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known missense c.595 p.R199C 1.000 smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 58 0 0 57 17 22.973 KDM6A 0 genome.wustl.edu 37 X 44879906 44879906 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 44879906 44879906 A C SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known silent c.495 p.R165 1.000 pfscan_TPR-contain_dom pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 122 0 0 100 35 25.9259 RBM10 0 genome.wustl.edu 37 X 47028858 47028858 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 47028858 47028858 G T SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.162 p.K54N 0.977 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 38 0 0 23 6 20.6897 KCND1 0 genome.wustl.edu 37 X 48826003 48826003 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 48826003 48826003 G A SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known missense c.676 p.R226C 0.951 prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 27 0 0 31 6 16.2162 CACNA1F 0 genome.wustl.edu 37 X 49086760 49086760 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 49086760 49086760 C T SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.739 p.V247I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 23 0 0 15 5 25 PPP1R3F 0 genome.wustl.edu 37 X 49142794 49142794 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 49142794 49142794 G A SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known missense c.1642 p.A548T 0.998 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 33 0 0 19 14 42.4242 SHROOM4 0 genome.wustl.edu 37 X 50350731 50350731 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 50350731 50350731 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known silent c.3411 p.E1137 0.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 39 0 0 14 9 39.1304 SHROOM4 0 genome.wustl.edu 37 X 50377272 50377272 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 50377272 50377272 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.1801 p.A601T 1.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 73 0 0 40 4 9.09091 CXorf67 0 genome.wustl.edu 37 X 51151130 51151130 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 51151130 51151130 T C SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.1262 p.I421T 0.001 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 108 0 0 76 17 18.2796 NUDT11 0 genome.wustl.edu 37 X 51239179 51239179 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 51239179 51239179 G A SNP NUDT11 ENST00000375992 human ensembl 74_37 -1 known missense c.118 p.R40W 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT11 HGNC ENSG00000196368 31 0 0 22 6 21.4286 HUWE1 0 genome.wustl.edu 37 X 53575177 53575177 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 53575177 53575177 G A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.10093 p.R3365W 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 24 0 0 22 3 12 FAM120C 0 genome.wustl.edu 37 X 54209078 54209078 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 54209078 54209078 C A SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.554 p.R185L 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 26 0 0 20 3 13.0435 PAGE5 0 genome.wustl.edu 37 X 55247075 55247075 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 55247075 55247075 A G SNP PAGE5 ENST00000289619 human ensembl 74_37 +1 known missense c.43 p.R15G 0.028 NULL pfam_GAGE - no_errors PAGE5 HGNC ENSG00000158639 15 0 0 7 5 41.6667 USP51 0 genome.wustl.edu 37 X 55514297 55514297 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 55514297 55514297 G A SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.1076 p.T359I 1.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 125 0 0 99 28 22.0472 NLGN4X 0 genome.wustl.edu 37 X 5827119 5827119 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 5827119 5827119 A G SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.847 p.L283 0.966 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 66 0 0 47 16 25.3968 AMER1 0 genome.wustl.edu 37 X 63412443 63412443 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 63412443 63412443 T A SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.724 p.T242S 0.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 185 0 0 115 39 25.3247 PJA1 0 genome.wustl.edu 37 X 68382056 68382056 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 68382056 68382056 T C SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known silent c.1026 p.R342 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 54 0 0 36 4 10 TAF1 0 genome.wustl.edu 37 X 70604865 70604865 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 70604865 70604865 T A SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.2189 p.F730Y 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 65 0 0 62 14 18.4211 TAF1 0 genome.wustl.edu 37 X 70608209 70608209 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 70608209 70608209 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known silent c.2547 p.C849 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 94 0 0 74 16 17.7778 XIST 0 genome.wustl.edu 37 X 73040725 73040725 + RNA SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 73040725 73040725 A G SNP XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 53 0 0 41 8 16.3265 RLIM 0 genome.wustl.edu 37 X 73815739 73815739 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 73815739 73815739 C T SNP RLIM ENST00000332687 human ensembl 74_37 -1 known missense c.74 p.R25Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 56 0 0 37 9 19.5652 MAGT1 0 genome.wustl.edu 37 X 77131013 77131013 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 77131013 77131013 G A SNP MAGT1 ENST00000358075 human ensembl 74_37 -1 known missense c.280 p.R94C 1.000 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 229 0 0 198 46 18.8525 TBX22 0 genome.wustl.edu 37 X 79282759 79282759 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 79282759 79282759 C T SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.803 p.T268M 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 33 0 0 21 5 19.2308 POU3F4 0 genome.wustl.edu 37 X 82763700 82763700 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 82763700 82763700 C T SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known missense c.368 p.S123F 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 32 0 0 30 5 14.2857 KAL1 0 genome.wustl.edu 37 X 8553428 8553428 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 8553428 8553428 C T SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.736 p.E246K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 114 0 0 74 10 11.9048 KLHL4 0 genome.wustl.edu 37 X 86880677 86880677 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 86880677 86880677 A G SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.1205 p.E402G 1.000 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 65 0 0 56 9 13.8462 AGL 0 genome.wustl.edu 37 1 100378027 100378028 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 100378027 100378028 - A INS AGL ENST00000294724 human ensembl 74_37 +1 known frame_shift_ins c.3903_3904 p.N1303fs 0.021:0.023 pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 65 0 0 60 17 22.0779 ENSG00000269175 0 genome.wustl.edu 37 1 101456193 101456193 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 101456193 101456193 A - DEL ENSG00000269175 ENST00000593496 human ensembl 74_37 +1 known frame_shift_del c.187 p.R66fs 0.002 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene ENSG00000269175 37 0 0 37 7 15.9091 ATXN7L2 0 genome.wustl.edu 37 1 110035319 110035319 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 110035319 110035319 T - DEL ATXN7L2 ENST00000459635 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ATXN7L2 HGNC ENSG00000162650 57 0 0 30 13 30.2326 PIFO 0 genome.wustl.edu 37 1 111892836 111892836 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 111892836 111892836 A - DEL PIFO ENST00000369738 human ensembl 74_37 +1 known frame_shift_del c.498 p.A168fs 0.989 NULL NULL - no_errors PIFO HGNC ENSG00000173947 182 1 0.546448 143 24 14.3713 FAM212B 0 genome.wustl.edu 37 1 112269924 112269925 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 112269924 112269925 - C INS FAM212B ENST00000357260 human ensembl 74_37 -1 known frame_shift_ins c.560_559 p.A187fs 0.000:0.001 NULL NULL - no_errors FAM212B HGNC ENSG00000197852 130 0 0 80 16 16.6667 SYCP1 0 genome.wustl.edu 37 1 115527421 115527421 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 115527421 115527421 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.2635 p.K881fs 0.018 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 105 1 0.943396 99 22 18.1818 PTCHD2 0 genome.wustl.edu 37 1 11562052 11562052 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 11562052 11562052 C - DEL PTCHD2 ENST00000294484 human ensembl 74_37 +1 known frame_shift_del c.1003 p.S337fs 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 71 0 0 46 8 14.8148 CLCN6 0 genome.wustl.edu 37 1 11893605 11893605 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 11893605 11893605 T - DEL CLCN6 ENST00000346436 human ensembl 74_37 +1 known frame_shift_del c.1282 p.C430fs 0.998 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 83 0 0 35 11 23.913 TAS1R3 0 genome.wustl.edu 37 1 1269098 1269098 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 1269098 1269098 C - DEL TAS1R3 ENST00000339381 human ensembl 74_37 +1 known frame_shift_del c.1813 p.L606fs 0.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 39 0 0 15 5 25 VPS45 0 genome.wustl.edu 37 1 150082564 150082564 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 150082564 150082564 T - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS45 HGNC ENSG00000136631 38 0 0 22 5 18.5185 SHC1 0 genome.wustl.edu 37 1 154942911 154942911 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 154942911 154942911 G - DEL SHC1 ENST00000368445 human ensembl 74_37 -1 known frame_shift_del c.92 p.P31fs 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 77 0 0 43 15 25.8621 EFNA4 0 genome.wustl.edu 37 1 155041388 155041388 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 155041388 155041388 G - DEL EFNA4 ENST00000368409 human ensembl 74_37 +1 known frame_shift_del c.529 p.D179fs 0.930 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA4 HGNC ENSG00000243364 73 0 0 54 12 18.1818 EFNA3 0 genome.wustl.edu 37 1 155059036 155059037 + RNA DEL GG GG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 155059036 155059037 GG - DEL EFNA3 ENST00000470294 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors EFNA3 HGNC ENSG00000143590 93 0 0 67 15 18.2927 FAM189B 0 genome.wustl.edu 37 1 155223469 155223470 + Frame_Shift_Del DEL GT GT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 155223469 155223470 GT - DEL FAM189B ENST00000361361 human ensembl 74_37 -1 known frame_shift_del c.568_567 p.S191fs 1.000:0.984 pfam_CD20-like pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 79 0 0 65 13 16.6667 ASH1L 0 genome.wustl.edu 37 1 155308000 155308000 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 155308000 155308000 T - DEL ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_del c.8698 p.T2900fs 0.002 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 135 0 0 111 17 13.2812 KIAA0907 0 genome.wustl.edu 37 1 155886695 155886695 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 155886695 155886695 T - DEL KIAA0907 ENST00000465953 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA0907 HGNC ENSG00000132680 8 0 0 3 4 57.1429 PRCC 0 genome.wustl.edu 37 1 156761536 156761536 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 156761536 156761536 C - DEL PRCC ENST00000271526 human ensembl 74_37 +1 known frame_shift_del c.1131 p.Q380fs 0.065 NULL pfam_PRCC - no_errors PRCC HGNC ENSG00000143294 90 0 0 55 8 12.6984 FCRL3 0 genome.wustl.edu 37 1 157648451 157648451 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 157648451 157648451 A - DEL FCRL3 ENST00000473231 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors FCRL3 HGNC ENSG00000160856 86 0 0 52 16 23.5294 CLCNKB 0 genome.wustl.edu 37 1 16378297 16378297 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 16378297 16378297 G - DEL CLCNKB ENST00000375679 human ensembl 74_37 +1 known frame_shift_del c.1390 p.Y466fs 0.710 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-K - no_errors CLCNKB HGNC ENSG00000184908 103 0 0 41 13 24.0741 ALDH9A1 0 genome.wustl.edu 37 1 165634376 165634376 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 165634376 165634376 A - DEL ALDH9A1 ENST00000463610 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ALDH9A1 HGNC ENSG00000143149 22 0 0 25 8 24.2424 CCDC181 0 genome.wustl.edu 37 1 169364416 169364416 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 169364416 169364416 T - DEL CCDC181 ENST00000367806 human ensembl 74_37 -1 known frame_shift_del c.1399 p.M467fs 0.993 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 74 0 0 57 17 22.973 CCDC181 0 genome.wustl.edu 37 1 169366580 169366580 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 169366580 169366580 T - DEL CCDC181 ENST00000367806 human ensembl 74_37 -1 known frame_shift_del c.1265 p.K422fs 1.000 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 36 0 0 31 9 22.5 PRRC2C 0 genome.wustl.edu 37 1 171484936 171484936 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 171484936 171484936 A - DEL PRRC2C ENST00000392078 human ensembl 74_37 +1 known frame_shift_del c.464 p.E158fs 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 48 0 0 39 14 26.4151 ABL2 0 genome.wustl.edu 37 1 179077894 179077894 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 179077894 179077894 T - DEL ABL2 ENST00000502732 human ensembl 74_37 -1 known frame_shift_del c.2508 p.K836fs 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 87 0 0 82 19 18.8119 HMCN1 0 genome.wustl.edu 37 1 185704144 185704144 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 185704144 185704144 T - DEL HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_del c.233 p.F79fs 1.000 NULL 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 74 0 0 66 14 17.5 ASPM 0 genome.wustl.edu 37 1 197073232 197073232 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 197073232 197073232 T - DEL ASPM ENST00000367409 human ensembl 74_37 -1 known frame_shift_del c.5149 p.I1717fs 0.000 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 125 0 0 107 26 19.5489 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 51 0 0 39 27 40.9091 NAV1 0 genome.wustl.edu 37 1 201772828 201772828 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 201772828 201772828 A - DEL NAV1 ENST00000367296 human ensembl 74_37 +1 known frame_shift_del c.3625 p.K1211fs 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 60 0 0 45 5 10 GPR37L1 0 genome.wustl.edu 37 1 202097524 202097525 + In_Frame_Ins INS - - CTG TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 202097524 202097525 - CTG INS GPR37L1 ENST00000367282 human ensembl 74_37 +1 known in_frame_ins c.1286_1287 p.433in_frame_insC 1.000:0.998 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 54 0 0 27 5 15.625 NFASC 0 genome.wustl.edu 37 1 204924033 204924033 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 204924033 204924033 C - DEL NFASC ENST00000367172 human ensembl 74_37 +1 known frame_shift_del c.489 p.P165fs 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 313 0 0 207 47 18.5039 CR2 0 genome.wustl.edu 37 1 207648182 207648182 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 207648182 207648182 C - DEL CR2 ENST00000367057 human ensembl 74_37 +1 known frame_shift_del c.2337 p.P780fs 0.002 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 125 0 0 123 24 16.3265 C1orf86 0 genome.wustl.edu 37 1 2125537 2125537 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 2125537 2125537 C - DEL C1orf86 ENST00000378545 human ensembl 74_37 -1 known frame_shift_del c.407 p.G136fs 0.000 NULL NULL - no_errors C1orf86 HGNC ENSG00000162585 38 0 0 32 7 17.9487 USP48 0 genome.wustl.edu 37 1 22033386 22033388 + In_Frame_Del DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 22033386 22033388 AAA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel in_frame_del c.1975_1973 p.F658in_frame_del 0.000:0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 46 0 0 25 10 28.5714 AIDA 0 genome.wustl.edu 37 1 222843548 222843548 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 222843548 222843548 T - DEL AIDA ENST00000541237 human ensembl 74_37 -1 known frame_shift_del c.679 p.R227fs 0.998 pfam_AIDA_N pfam_AIDA_N,superfamily_AIDA_N - no_errors AIDA HGNC ENSG00000186063 54 0 0 43 9 17.3077 OBSCN 0 genome.wustl.edu 37 1 228562316 228562318 + In_Frame_Del DEL TCC TCC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 228562316 228562318 TCC - DEL OBSCN ENST00000422127 human ensembl 74_37 +1 known in_frame_del c.22526_22528 p.L7510in_frame_del 0.996:0.999:1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 147 0 0 101 11 9.82143 CAPN9 0 genome.wustl.edu 37 1 230903351 230903351 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 230903351 230903351 G - DEL CAPN9 ENST00000271971 human ensembl 74_37 +1 known frame_shift_del c.601 p.G202fs 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN9 HGNC ENSG00000135773 134 0 0 96 25 20.6612 ARV1 0 genome.wustl.edu 37 1 231131567 231131567 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 231131567 231131567 A - DEL ARV1 ENST00000310256 human ensembl 74_37 +1 known frame_shift_del c.510 p.K173fs 0.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 66 0 0 41 23 35.9375 GPR137B 0 genome.wustl.edu 37 1 236306033 236306034 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 236306033 236306034 - C INS GPR137B ENST00000366592 human ensembl 74_37 +1 known frame_shift_ins c.111_112 p.Y39fs 1.000:1.000 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 45 0 0 25 9 26.4706 HEATR1 0 genome.wustl.edu 37 1 236737616 236737616 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 236737616 236737616 A - DEL HEATR1 ENST00000366582 human ensembl 74_37 -1 known frame_shift_del c.3345 p.F1115fs 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 92 0 0 73 11 13.0952 TCEB3 0 genome.wustl.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 24078404 24078404 A - DEL TCEB3 ENST00000418390 human ensembl 74_37 +1 known frame_shift_del c.1387 p.N465fs 0.998 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 138 0 0 93 40 30.0752 EXO1 0 genome.wustl.edu 37 1 242042268 242042269 + Frame_Shift_Del DEL AC AC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 242042268 242042269 AC - DEL EXO1 ENST00000348581 human ensembl 74_37 +1 known frame_shift_del c.1732_1733 p.T578fs 0.011:0.124 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 132 0 0 91 23 20.1754 PLCH2 0 genome.wustl.edu 37 1 2428286 2428288 + In_Frame_Del DEL GTC GTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GTC GTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 2428286 2428288 GTC - DEL PLCH2 ENST00000378486 human ensembl 74_37 +1 known in_frame_del c.1953_1955 p.S653in_frame_del 0.996:1.000:1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 116 1 0.854701 76 7 8.43373 TMEM57 0 genome.wustl.edu 37 1 25785186 25785186 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 25785186 25785186 A - DEL TMEM57 ENST00000374343 human ensembl 74_37 +1 known frame_shift_del c.957 p.N321fs 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 158 0 0 139 24 14.7239 SYTL1 0 genome.wustl.edu 37 1 27680355 27680356 + RNA DEL CT CT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 27680355 27680356 CT - DEL SYTL1 ENST00000490170 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SYTL1 HGNC ENSG00000142765 85 0 0 70 6 7.89474 RPA2 0 genome.wustl.edu 37 1 28240614 28240614 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 28240614 28240614 C - DEL RPA2 ENST00000313433 human ensembl 74_37 -1 known frame_shift_del c.341 p.G114fs 1.000 NULL pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold - no_errors RPA2 HGNC ENSG00000117748 56 0 0 46 13 22.0339 SNRNP40 0 genome.wustl.edu 37 1 31766006 31766006 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 31766006 31766006 A - DEL SNRNP40 ENST00000463988 human ensembl 74_37 -1 known rna NULL NULL 0.422 - - - no_errors SNRNP40 HGNC ENSG00000060688 25 0 0 14 4 22.2222 TINAGL1 0 genome.wustl.edu 37 1 32043047 32043047 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 32043047 32043047 C - DEL TINAGL1 ENST00000271064 human ensembl 74_37 +1 known frame_shift_del c.298 p.P101fs 0.855 NULL pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC ENSG00000142910 133 0 0 93 14 13.0841 COL16A1 0 genome.wustl.edu 37 1 32118370 32118370 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 32118370 32118370 G - DEL COL16A1 ENST00000271069 human ensembl 74_37 -1 known frame_shift_del c.4697 p.P1566fs 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 50 0 0 26 6 18.75 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 21 0 0 20 8 28.5714 DLGAP3 0 genome.wustl.edu 37 1 35370731 35370731 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 35370731 35370731 C - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.254 p.G85fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 18 0 0 8 3 27.2727 NCDN 0 genome.wustl.edu 37 1 36026171 36026171 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 36026171 36026171 G - DEL NCDN ENST00000356090 human ensembl 74_37 +1 known frame_shift_del c.419 p.D142fs 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 225 0 0 158 24 13.1868 THRAP3 0 genome.wustl.edu 37 1 36754830 36754831 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 36754830 36754831 - G INS THRAP3 ENST00000354618 human ensembl 74_37 +1 known frame_shift_ins c.1210_1211 p.S406fs 0.997:1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 92 0 0 86 17 16.5049 MRPS15 0 genome.wustl.edu 37 1 36926362 36926362 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 36926362 36926362 T - DEL MRPS15 ENST00000373116 human ensembl 74_37 -1 known frame_shift_del c.316 p.I106fs 0.080 superfamily_S15_NS1_RNA-bd pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 79 0 0 52 9 14.7541 EPHA10 0 genome.wustl.edu 37 1 38185238 38185238 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 38185238 38185238 G - DEL EPHA10 ENST00000427468 human ensembl 74_37 -1 known frame_shift_del c.2604 p.R869fs 0.983 pirsf_Tyr_kinase_ephrin_rcpt,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 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 86 0 0 58 9 13.4328 KIAA0754 0 genome.wustl.edu 37 1 39877464 39877464 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 39877464 39877464 T - DEL KIAA0754 ENST00000530275 human ensembl 74_37 +1 known frame_shift_del c.1119 p.S375fs 0.905 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 49 0 0 52 16 23.5294 EIF2B3 0 genome.wustl.edu 37 1 45407182 45407182 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 45407182 45407182 T - DEL EIF2B3 ENST00000360403 human ensembl 74_37 -1 known frame_shift_del c.450 p.A151fs 0.997 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 100 1 0.990099 100 26 20.6349 GPBP1L1 0 genome.wustl.edu 37 1 46120890 46120890 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 46120890 46120890 A - DEL GPBP1L1 ENST00000290795 human ensembl 74_37 -1 known frame_shift_del c.162 p.F54fs 1.000 NULL NULL - no_errors GPBP1L1 HGNC ENSG00000159592 142 1 0.699301 111 24 17.7778 GLIS1 0 genome.wustl.edu 37 1 53980427 53980428 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 53980427 53980428 - G INS GLIS1 ENST00000312233 human ensembl 74_37 -1 known frame_shift_ins c.1229_1228 p.H410fs 0.910:0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 53 0 0 42 8 16 NDC1 0 genome.wustl.edu 37 1 54291559 54291559 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 54291559 54291559 A - DEL NDC1 ENST00000371429 human ensembl 74_37 -1 known frame_shift_del c.506 p.F169fs 0.998 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors NDC1 HGNC ENSG00000058804 82 0 0 79 18 18.5567 DOCK7 0 genome.wustl.edu 37 1 62939733 62939733 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 62939733 62939733 A - DEL DOCK7 ENST00000251157 human ensembl 74_37 -1 known frame_shift_del c.6099 p.L2034fs 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 53 0 0 53 16 23.1884 ALG6 0 genome.wustl.edu 37 1 63836751 63836752 + Frame_Shift_Del DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 63836751 63836752 AA - DEL ALG6 ENST00000487136 human ensembl 74_37 +1 known frame_shift_del c.103_104 p.K37fs 0.000:0.000 NULL NULL - no_errors ALG6 HGNC ENSG00000088035 45 0 0 39 7 15.2174 GNG12 0 genome.wustl.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 68171151 68171151 T - DEL GNG12 ENST00000370982 human ensembl 74_37 -1 known frame_shift_del c.202 p.T68fs 1.000 smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 107 0 0 92 28 23.3333 LRRIQ3 0 genome.wustl.edu 37 1 74648381 74648381 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 74648381 74648381 T - DEL LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_del c.414 p.G139fs 1.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 72 0 0 72 23 24.2105 FPGT 0 genome.wustl.edu 37 1 74671311 74671311 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 74671311 74671311 T - DEL FPGT ENST00000370898 human ensembl 74_37 +1 known frame_shift_del c.1619 p.F541fs 1.000 pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 113 0 0 114 20 14.9254 AK5 0 genome.wustl.edu 37 1 77806069 77806069 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 77806069 77806069 C - DEL AK5 ENST00000354567 human ensembl 74_37 +1 known frame_shift_del c.707 p.D238fs 1.000 pfam_Adenylate_kin,superfamily_P-loop_NTPase pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 120 0 0 107 18 14.4 CTBS 0 genome.wustl.edu 37 1 85020568 85020568 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 85020568 85020568 T - DEL CTBS ENST00000477677 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTBS HGNC ENSG00000117151 20 0 0 11 5 31.25 RERE 0 genome.wustl.edu 37 1 8716109 8716109 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 8716109 8716109 T - DEL RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_del c.248 p.K83fs 0.999 NULL pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 339 0 0 288 80 21.7391 GBP3 0 genome.wustl.edu 37 1 89478904 89478905 + Frame_Shift_Del DEL TA TA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 89478904 89478905 TA - DEL GBP3 ENST00000370481 human ensembl 74_37 -1 known frame_shift_del c.832_831 p.K278fs 0.547:0.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP3 HGNC ENSG00000117226 161 0 0 130 39 23.0769 ZNF644 0 genome.wustl.edu 37 1 91382293 91382294 + RNA DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 91382293 91382294 AA - DEL ZNF644 ENST00000467231 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 20 0 0 16 6 27.2727 ZNF644 0 genome.wustl.edu 37 1 91406040 91406040 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 91406040 91406040 T - DEL ZNF644 ENST00000337393 human ensembl 74_37 -1 known frame_shift_del c.871 p.R291fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 86 0 0 46 21 31.3433 CDC7 0 genome.wustl.edu 37 1 91967357 91967357 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 91967357 91967357 A - DEL CDC7 ENST00000234626 human ensembl 74_37 +1 known frame_shift_del c.84 p.N31fs 0.083 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 112 0 0 74 23 23.7113 EPHX4 0 genome.wustl.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 92511121 92511122 - G INS EPHX4 ENST00000370383 human ensembl 74_37 +1 known frame_shift_ins c.508_509 p.M173fs 1.000:1.000 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX4 HGNC ENSG00000172031 120 1 0.826446 99 26 20.8 EVI5 0 genome.wustl.edu 37 1 93073081 93073081 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 93073081 93073081 A - DEL EVI5 ENST00000492513 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EVI5 HGNC ENSG00000067208 16 0 0 7 8 53.3333 MTF2 0 genome.wustl.edu 37 1 93602676 93602679 + RNA DEL AAAA AAAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 93602676 93602679 AAAA - DEL MTF2 ENST00000467953 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997:0.993:0.908 - - - no_errors MTF2 HGNC ENSG00000143033 19 0 0 10 6 37.5 PTBP2 0 genome.wustl.edu 37 1 97279080 97279080 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 1 97279080 97279080 T - DEL PTBP2 ENST00000482253 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PTBP2 HGNC ENSG00000117569 15 0 0 14 8 36.3636 ABCC2 0 genome.wustl.edu 37 10 101558979 101558979 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 101558979 101558979 A - DEL ABCC2 ENST00000370449 human ensembl 74_37 +1 known frame_shift_del c.883 p.K297fs 1.000 superfamily_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 173 1 0.574713 181 43 19.1964 C10orf2 0 genome.wustl.edu 37 10 102753325 102753326 + RNA DEL CT CT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 102753325 102753326 CT - DEL C10orf2 ENST00000473656 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors C10orf2 HGNC ENSG00000107815 24 0 0 17 4 19.0476 DPCD 0 genome.wustl.edu 37 10 103339944 103339944 + RNA DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 103339944 103339944 G - DEL DPCD ENST00000470165 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DPCD HGNC ENSG00000166171 53 0 0 45 8 15.0943 PPRC1 0 genome.wustl.edu 37 10 103901077 103901077 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 103901077 103901077 C - DEL PPRC1 ENST00000278070 human ensembl 74_37 +1 known frame_shift_del c.2812 p.P940fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 80 0 0 82 14 14.5833 SLK 0 genome.wustl.edu 37 10 105778691 105778691 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 105778691 105778691 T - DEL SLK ENST00000474260 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLK HGNC ENSG00000065613 88 0 0 58 45 43.6893 CCDC147 0 genome.wustl.edu 37 10 106128190 106128191 + Frame_Shift_Del DEL GA GA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 106128190 106128191 GA - DEL CCDC147 ENST00000369704 human ensembl 74_37 +1 known frame_shift_del c.802_803 p.R269fs 1.000:1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 43 0 0 46 8 14.8148 SORCS1 0 genome.wustl.edu 37 10 108447969 108447970 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 108447969 108447970 - C INS SORCS1 ENST00000344440 human ensembl 74_37 -1 known frame_shift_ins c.1541_1540 p.D514fs 1.000:1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 134 0 0 117 19 13.9706 XPNPEP1 0 genome.wustl.edu 37 10 111651337 111651337 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 111651337 111651337 T - DEL XPNPEP1 ENST00000475123 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XPNPEP1 HGNC ENSG00000108039 13 0 0 8 11 57.8947 ADD3 0 genome.wustl.edu 37 10 111893349 111893350 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 111893349 111893350 - A INS ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_ins c.2094_2095 p.E701fs 1.000:1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 102 0 0 119 20 14.3885 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 102 0 0 125 14 10.0719 ACSL5 0 genome.wustl.edu 37 10 114136115 114136117 + In_Frame_Del DEL GAA GAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 114136115 114136117 GAA - DEL ACSL5 ENST00000356116 human ensembl 74_37 +1 known in_frame_del c.48_50 p.K18in_frame_del 0.000:0.000:0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 142 0 0 120 23 16.0839 GFRA1 0 genome.wustl.edu 37 10 117856254 117856254 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 117856254 117856254 A - DEL GFRA1 ENST00000355422 human ensembl 74_37 -1 known frame_shift_del c.792 p.F264fs 0.992 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 25 0 0 28 4 12.5 PNLIP 0 genome.wustl.edu 37 10 118310759 118310760 + RNA INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 118310759 118310760 - T INS PNLIP ENST00000470562 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.016 - - - no_errors PNLIP HGNC ENSG00000175535 23 0 0 15 6 28.5714 PRDX3 0 genome.wustl.edu 37 10 120934108 120934108 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 120934108 120934108 A - DEL PRDX3 ENST00000463322 human ensembl 74_37 -1 known rna NULL NULL 0.384 - - - no_errors PRDX3 HGNC ENSG00000165672 46 0 0 59 15 20.2703 BUB3 0 genome.wustl.edu 37 10 124921819 124921821 + In_Frame_Del DEL AGA AGA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 124921819 124921821 AGA - DEL BUB3 ENST00000368865 human ensembl 74_37 +1 known in_frame_del c.644_646 p.K218in_frame_del 1.000:1.000:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BUB3 HGNC ENSG00000154473 193 0 0 213 34 13.7652 C10orf137 0 genome.wustl.edu 37 10 127412385 127412385 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 127412385 127412385 A - DEL C10orf137 ENST00000356792 human ensembl 74_37 +1 known frame_shift_del c.390 p.K132fs 0.995 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 144 0 0 111 25 18.3824 EBF3 0 genome.wustl.edu 37 10 131761997 131761997 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 131761997 131761997 C - DEL EBF3 ENST00000355311 human ensembl 74_37 -1 known frame_shift_del c.36 p.T13fs 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 51 0 0 48 7 12.7273 STK32C 0 genome.wustl.edu 37 10 134144952 134144952 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 134144952 134144952 C - DEL STK32C ENST00000368625 human ensembl 74_37 -1 known frame_shift_del c.289 p.A97fs 0.875 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32C HGNC ENSG00000165752 53 0 0 50 8 13.7931 TTC40 0 genome.wustl.edu 37 10 134628225 134628225 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 134628225 134628225 G - DEL TTC40 ENST00000263170 human ensembl 74_37 -1 known frame_shift_del c.1697 p.P566fs 0.001 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 39 0 0 29 7 19.4444 MTG1 0 genome.wustl.edu 37 10 135211971 135211971 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 135211971 135211971 A - DEL MTG1 ENST00000317502 human ensembl 74_37 +1 known frame_shift_del c.315 p.N107fs 0.220 superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 HGNC ENSG00000148824 110 0 0 131 41 23.8372 KIAA1217 0 genome.wustl.edu 37 10 24820809 24820809 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 24820809 24820809 C - DEL KIAA1217 ENST00000376454 human ensembl 74_37 +1 known frame_shift_del c.3133 p.P1046fs 0.999 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 53 0 0 41 12 22.6415 GPR158 0 genome.wustl.edu 37 10 25886977 25886977 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 25886977 25886977 A - DEL GPR158 ENST00000376351 human ensembl 74_37 +1 known frame_shift_del c.2422 p.N809fs 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 171 0 0 120 15 11.1111 MYO3A 0 genome.wustl.edu 37 10 26359088 26359089 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 26359088 26359089 - T INS MYO3A ENST00000265944 human ensembl 74_37 +1 known frame_shift_ins c.1219_1220 p.A409fs 1.000:1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 91 0 0 83 20 19.4175 ARMC4 0 genome.wustl.edu 37 10 28276474 28276475 + Splice_Site INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 28276474 28276475 - A INS ARMC4 ENST00000305242 human ensembl 74_37 -1 known splice_site_ins c.225-3_225-2 e2-2 0.997:0.661 - - - no_errors ARMC4 HGNC ENSG00000169126 26 0 0 22 3 12 ARHGAP12 0 genome.wustl.edu 37 10 32098254 32098255 + RNA INS - - TG TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 32098254 32098255 - TG INS ARHGAP12 ENST00000493008 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ARHGAP12 HGNC ENSG00000165322 51 0 0 55 8 12.6984 C10orf68 0 genome.wustl.edu 37 10 32974953 32974953 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 32974953 32974953 A - DEL C10orf68 ENST00000375025 human ensembl 74_37 +1 known frame_shift_del c.99 p.T35fs 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 72 0 0 66 11 14.2857 CUL2 0 genome.wustl.edu 37 10 35351916 35351916 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 35351916 35351916 A - DEL CUL2 ENST00000537177 human ensembl 74_37 -1 known frame_shift_del c.251 p.L84fs 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC ENSG00000108094 58 0 0 48 14 22.5806 ANKRD30A 0 genome.wustl.edu 37 10 37430789 37430790 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 37430789 37430790 - A INS ANKRD30A ENST00000361713 human ensembl 74_37 +1 known frame_shift_ins c.796_797 p.T268fs 0.002:0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 85 0 0 63 11 14.8649 DIP2C 0 genome.wustl.edu 37 10 395273 395273 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 395273 395273 G - DEL DIP2C ENST00000280886 human ensembl 74_37 -1 known frame_shift_del c.3107 p.P1036fs 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 76 0 0 70 13 15.6627 ERCC6 0 genome.wustl.edu 37 10 50736537 50736537 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 50736537 50736537 T - DEL ERCC6 ENST00000355832 human ensembl 74_37 -1 known frame_shift_del c.578 p.K193fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 72 0 0 68 10 12.8205 NET1 0 genome.wustl.edu 37 10 5495005 5495005 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 5495005 5495005 T - DEL NET1 ENST00000465087 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NET1 HGNC ENSG00000173848 20 0 0 17 5 22.7273 SLC16A9 0 genome.wustl.edu 37 10 61414180 61414180 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 61414180 61414180 T - DEL SLC16A9 ENST00000395347 human ensembl 74_37 -1 known frame_shift_del c.604 p.I202fs 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 142 0 0 147 31 17.4157 ARID5B 0 genome.wustl.edu 37 10 63850705 63850705 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 63850705 63850705 A - DEL ARID5B ENST00000279873 human ensembl 74_37 +1 known frame_shift_del c.1483 p.I497fs 0.987 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 79 0 0 70 12 14.6341 RTKN2 0 genome.wustl.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 63958149 63958149 T - DEL RTKN2 ENST00000373789 human ensembl 74_37 -1 known frame_shift_del c.1348 p.I450fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 81 0 0 102 13 11.3043 JMJD1C 0 genome.wustl.edu 37 10 64952699 64952699 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 64952699 64952699 T - DEL JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_del c.6075 p.E2026fs 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 78 0 0 131 29 18.125 DNAJC12 0 genome.wustl.edu 37 10 69565466 69565466 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 69565466 69565466 T - DEL DNAJC12 ENST00000225171 human ensembl 74_37 -1 known frame_shift_del c.377 p.N126fs 0.078 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC12 HGNC ENSG00000108176 159 0 0 189 37 16.3717 HERC4 0 genome.wustl.edu 37 10 69716603 69716605 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 69716603 69716605 AAA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 39 0 0 46 15 24.5902 DDX50 0 genome.wustl.edu 37 10 70666693 70666693 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 70666693 70666693 A - DEL DDX50 ENST00000373585 human ensembl 74_37 +1 known frame_shift_del c.314 p.K107fs 1.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 108 0 0 131 27 17.0886 DDX50 0 genome.wustl.edu 37 10 70670982 70670982 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 70670982 70670982 A - DEL DDX50 ENST00000373585 human ensembl 74_37 +1 known frame_shift_del c.619 p.S209fs 0.998 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 112 0 0 119 16 11.8519 LRRC20 0 genome.wustl.edu 37 10 72061117 72061118 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 72061117 72061118 - G INS LRRC20 ENST00000355790 human ensembl 74_37 -1 known frame_shift_ins c.548_547 p.L183fs 0.001:0.002 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC20 HGNC ENSG00000172731 105 0 0 97 18 15.6522 ADAMTS14 0 genome.wustl.edu 37 10 72493711 72493711 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 72493711 72493711 C - DEL ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known frame_shift_del c.1288 p.L431fs 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_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 89 0 0 88 14 13.7255 ENSG00000200294 0 genome.wustl.edu 37 10 73940733 73940733 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 73940733 73940733 T - DEL ENSG00000200294 ENST00000363424 human ensembl 74_37 +1 novel rna NULL NULL 0.371 - - - no_errors SNORA36 RFAM ENSG00000200294 12 0 0 8 5 38.4615 OIT3 0 genome.wustl.edu 37 10 74660135 74660136 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 74660135 74660136 - T INS OIT3 ENST00000334011 human ensembl 74_37 +1 known frame_shift_ins c.437_438 p.Y148fs 1.000:1.000 NULL pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 46 0 0 38 5 11.6279 ANXA7 0 genome.wustl.edu 37 10 75135834 75135836 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 75135834 75135836 AAA - DEL ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005 - - - no_errors ANXA7 HGNC ENSG00000138279 14 0 0 2 5 71.4286 ZSWIM8 0 genome.wustl.edu 37 10 75553626 75553628 + In_Frame_Del DEL AAG AAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 75553626 75553628 AAG - DEL ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known in_frame_del c.2449_2451 p.K818in_frame_del 1.000:1.000:1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 33 0 0 38 7 15.5556 NDST2 0 genome.wustl.edu 37 10 75567575 75567575 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 75567575 75567575 A - DEL NDST2 ENST00000309979 human ensembl 74_37 -1 known frame_shift_del c.572 p.L191fs 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 79 0 0 61 11 15.2778 DLG5 0 genome.wustl.edu 37 10 79581283 79581284 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 79581283 79581284 - G INS DLG5 ENST00000372391 human ensembl 74_37 -1 known frame_shift_ins c.2959_2958 p.K986fs 0.998:0.830 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 107 0 0 94 12 11.3208 LRIT1 0 genome.wustl.edu 37 10 86001143 86001144 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 86001143 86001144 - G INS LRIT1 ENST00000372105 human ensembl 74_37 -1 known frame_shift_ins c.53_52 p.Q18fs 0.289:0.600 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 41 0 0 52 4 7.14286 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 88 0 0 101 21 17.2131 HTR7 0 genome.wustl.edu 37 10 92502258 92502258 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 92502258 92502258 T - DEL HTR7 ENST00000336152 human ensembl 74_37 -1 known frame_shift_del c.1421 p.K474fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 63 0 0 47 17 26.5625 KIF11 0 genome.wustl.edu 37 10 94388618 94388618 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 94388618 94388618 A - DEL KIF11 ENST00000260731 human ensembl 74_37 +1 known frame_shift_del c.1271 p.I426fs 0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 19 0 0 28 10 26.3158 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 58 0 0 26 33 55.9322 ZDHHC16 0 genome.wustl.edu 37 10 99215505 99215507 + In_Frame_Del DEL AAG AAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 10 99215505 99215507 AAG - DEL ZDHHC16 ENST00000370854 human ensembl 74_37 +1 known in_frame_del c.913_915 p.K306in_frame_del 1.000:0.988:0.995 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC16 HGNC ENSG00000171307 128 0 0 149 30 16.7598 DYNC2H1 0 genome.wustl.edu 37 11 103074471 103074471 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 103074471 103074471 T - DEL DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known frame_shift_del c.8277 p.F2761fs 0.574 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 41 0 0 37 5 11.9048 PHLDB1 0 genome.wustl.edu 37 11 118509928 118509928 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 118509928 118509928 G - DEL PHLDB1 ENST00000361417 human ensembl 74_37 +1 known frame_shift_del c.2695 p.G900fs 0.997 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 122 0 0 66 10 13.1579 BCL9L 0 genome.wustl.edu 37 11 118770036 118770036 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 118770036 118770036 C - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.3588 p.P1198fs 0.839 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 9 0 0 3 4 57.1429 C1QTNF5 0 genome.wustl.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 119210189 119210190 - C INS C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known frame_shift_ins c.584_583 p.A195fs 1.000:0.976 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF5 HGNC ENSG00000223953 135 0 0 91 8 8.08081 CHEK1 0 genome.wustl.edu 37 11 125505378 125505378 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 125505378 125505378 A - DEL CHEK1 ENST00000438015 human ensembl 74_37 +1 known frame_shift_del c.668 p.T226fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CHEK1 HGNC ENSG00000149554 132 0 0 123 34 21.6561 IGSF9B 0 genome.wustl.edu 37 11 133807827 133807827 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 133807827 133807827 G - DEL IGSF9B ENST00000321016 human ensembl 74_37 -1 known frame_shift_del c.439 p.Q147fs 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 28 0 0 17 6 26.087 CTSD 0 genome.wustl.edu 37 11 1780829 1780830 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 1780829 1780830 - G INS CTSD ENST00000236671 human ensembl 74_37 -1 known frame_shift_ins c.269_268 p.Q90fs 1.000:0.999 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 74 0 0 37 13 26 PTPN5 0 genome.wustl.edu 37 11 18765816 18765817 + RNA INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 18765816 18765817 - G INS PTPN5 ENST00000496201 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors PTPN5 HGNC ENSG00000110786 32 0 0 24 3 11.1111 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 96 0 0 77 24 23.7624 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 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 OR51E2 HGNC ENSG00000167332 87 0 0 70 12 14.6341 C11orf49 0 genome.wustl.edu 37 11 47074001 47074001 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 47074001 47074001 C - DEL C11orf49 ENST00000378615 human ensembl 74_37 +1 known frame_shift_del c.212 p.H73fs 1.000 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 128 0 0 130 28 17.7215 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 112 1 0.884956 66 26 28.2609 NR1H3 0 genome.wustl.edu 37 11 47282886 47282887 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 47282886 47282887 - C INS NR1H3 ENST00000441012 human ensembl 74_37 +1 known frame_shift_ins c.594_595 p.Q200fs 0.043:0.928 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 73 0 0 48 15 23.8095 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 49 0 0 46 8 14.8148 TRIM51HP 0 genome.wustl.edu 37 11 55065643 55065643 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 55065643 55065643 A - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors TRIM51HP HGNC ENSG00000166007 91 0 0 55 21 27.6316 UBQLN3 0 genome.wustl.edu 37 11 5529402 5529402 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 5529402 5529402 A - DEL UBQLN3 ENST00000311659 human ensembl 74_37 -1 known frame_shift_del c.1387 p.S463fs 0.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 76 0 0 49 21 30 OR5B12 0 genome.wustl.edu 37 11 58207028 58207028 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 58207028 58207028 A - DEL OR5B12 ENST00000302572 human ensembl 74_37 -1 known frame_shift_del c.597 p.F199fs 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 60 0 0 62 10 13.8889 ZFP91 0 genome.wustl.edu 37 11 58377809 58377810 + Splice_Site INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 58377809 58377810 - A INS ZFP91 ENST00000316059 human ensembl 74_37 +1 known splice_site_ins c.617+2_617+1 e4+2 1.000:0.968 - - - no_errors ZFP91 HGNC ENSG00000186660 62 0 0 38 5 11.6279 MYRF 0 genome.wustl.edu 37 11 61539013 61539013 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 61539013 61539013 C - DEL MYRF ENST00000278836 human ensembl 74_37 +1 known frame_shift_del c.782 p.S264fs 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 153 0 0 95 39 29.1045 GANAB 0 genome.wustl.edu 37 11 62407174 62407174 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 62407174 62407174 A - DEL GANAB ENST00000346178 human ensembl 74_37 -1 known frame_shift_del c.68 p.L23fs 0.988 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 97 0 0 48 9 15.7895 SLC22A10 0 genome.wustl.edu 37 11 63078479 63078479 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 63078479 63078479 A - DEL SLC22A10 ENST00000332793 human ensembl 74_37 +1 known frame_shift_del c.1599 p.N536fs 0.007 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 30 0 0 19 9 32.1429 SLC22A20 0 genome.wustl.edu 37 11 64981481 64981481 + RNA DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 64981481 64981481 C - DEL SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.963 - - - no_errors SLC22A20 HGNC ENSG00000197847 19 0 0 15 5 25 MALAT1 0 genome.wustl.edu 37 11 65269444 65269444 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65269444 65269444 A - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 28 0 0 21 7 25 MALAT1 0 genome.wustl.edu 37 11 65271312 65271314 + RNA DEL ATA ATA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 ATA ATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 65271312 65271314 ATA - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.999:1.000:0.998 - - - no_errors MALAT1 HGNC ENSG00000251562 32 0 0 31 4 11.4286 ILK 0 genome.wustl.edu 37 11 6629692 6629692 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 6629692 6629692 T - DEL ILK ENST00000299421 human ensembl 74_37 +1 known frame_shift_del c.324 p.W110fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 78 0 0 39 19 32.7586 DCHS1 0 genome.wustl.edu 37 11 6662142 6662142 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 6662142 6662142 G - DEL DCHS1 ENST00000299441 human ensembl 74_37 -1 known frame_shift_del c.703 p.R235fs 0.606 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 169 0 0 129 18 12.2449 PPP1CA 0 genome.wustl.edu 37 11 67165932 67165933 + RNA INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 67165932 67165933 - C INS PPP1CA ENST00000532446 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.080 - - - no_errors PPP1CA HGNC ENSG00000172531 19 0 0 18 6 25 TBC1D10C 0 genome.wustl.edu 37 11 67177159 67177159 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 67177159 67177159 C - DEL TBC1D10C ENST00000312390 human ensembl 74_37 +1 known frame_shift_del c.1275 p.I428fs 0.001 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 21 0 0 27 6 18.1818 CORO1B 0 genome.wustl.edu 37 11 67209168 67209168 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 67209168 67209168 G - DEL CORO1B ENST00000545016 human ensembl 74_37 -1 known frame_shift_del c.490 p.H164fs 0.000 NULL pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 17 0 0 10 6 37.5 C2CD3 0 genome.wustl.edu 37 11 73825472 73825472 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 73825472 73825472 T - DEL C2CD3 ENST00000334126 human ensembl 74_37 -1 known frame_shift_del c.1687 p.S563fs 0.531 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 48 0 0 38 18 32.1429 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 29 0 0 26 15 36.5854 RIC3 0 genome.wustl.edu 37 11 8160039 8160040 + RNA DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 8160039 8160040 AA - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RIC3 HGNC ENSG00000166405 13 0 0 5 6 54.5455 DENND5A 0 genome.wustl.edu 37 11 9171679 9171679 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 11 9171679 9171679 T - DEL DENND5A ENST00000328194 human ensembl 74_37 -1 known frame_shift_del c.2684 p.K895fs 1.000 pfam_Run,smart_Run,pfscan_Run pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 104 0 0 46 23 33.3333 ENSG00000257681 0 genome.wustl.edu 37 12 104157158 104157158 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 104157158 104157158 A - DEL ENSG00000257681 ENST00000550029 human ensembl 74_37 -1 known rna NULL NULL 0.034 - - - no_errors RP11-341G23.4 Clone_based_vega_gene ENSG00000257681 113 0 0 86 20 18.8679 KIAA1033 0 genome.wustl.edu 37 12 105556575 105556575 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 105556575 105556575 A - DEL KIAA1033 ENST00000332180 human ensembl 74_37 +1 known frame_shift_del c.3109 p.N1039fs 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 46 0 0 33 12 26.6667 MAGOHB 0 genome.wustl.edu 37 12 10760484 10760484 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 10760484 10760484 T - DEL MAGOHB ENST00000320756 human ensembl 74_37 -1 known frame_shift_del c.316 p.I106fs 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOHB HGNC ENSG00000111196 48 0 0 35 7 16.6667 RPL6 0 genome.wustl.edu 37 12 112846344 112846346 + In_Frame_Del DEL CTT CTT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 112846344 112846346 CTT - DEL RPL6 ENST00000202773 human ensembl 74_37 -1 known in_frame_del c.117_115 p.K39in_frame_del 0.996:1.000:1.000 pfam_Ribosomal_L6_N pfam_60S_ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like - no_errors RPL6 HGNC ENSG00000089009 149 0 0 104 20 16.129 VPS33A 0 genome.wustl.edu 37 12 122748169 122748169 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 122748169 122748169 A - DEL VPS33A ENST00000267199 human ensembl 74_37 -1 known frame_shift_del c.246 p.F82fs 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 53 0 0 55 6 9.83607 KNTC1 0 genome.wustl.edu 37 12 123078789 123078789 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 123078789 123078789 T - DEL KNTC1 ENST00000545065 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors KNTC1 HGNC ENSG00000184445 46 0 0 19 10 34.4828 KNTC1 0 genome.wustl.edu 37 12 123087620 123087620 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 123087620 123087620 A - DEL KNTC1 ENST00000333479 human ensembl 74_37 +1 known frame_shift_del c.4931 p.K1646fs 1.000 pfam_RZZ-complex_KNTC1/ROD_C pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 44 0 0 35 6 14.6341 SBNO1 0 genome.wustl.edu 37 12 123798171 123798171 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 123798171 123798171 A - DEL SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_del c.3216 p.F1072fs 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 27 0 0 24 10 29.4118 TMEM132D 0 genome.wustl.edu 37 12 130184705 130184705 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 130184705 130184705 G - DEL TMEM132D ENST00000422113 human ensembl 74_37 -1 known frame_shift_del c.618 p.T207fs 0.027 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 61 0 0 37 8 17.7778 STX2 0 genome.wustl.edu 37 12 131283100 131283100 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 131283100 131283100 T - DEL STX2 ENST00000392373 human ensembl 74_37 -1 known frame_shift_del c.756 p.A253fs 0.955 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX2 HGNC ENSG00000111450 94 0 0 66 25 27.4725 NOC4L 0 genome.wustl.edu 37 12 132632428 132632428 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 132632428 132632428 C - DEL NOC4L ENST00000330579 human ensembl 74_37 +1 known frame_shift_del c.607 p.A205fs 0.052 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 28 0 0 20 5 20 EMP1 0 genome.wustl.edu 37 12 13364427 13364428 + RNA DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 13364427 13364428 AA - DEL EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors EMP1 HGNC ENSG00000134531 103 0 0 99 29 22.6562 ITPR2 0 genome.wustl.edu 37 12 26749901 26749901 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 26749901 26749901 T - DEL ITPR2 ENST00000381340 human ensembl 74_37 -1 known frame_shift_del c.4169 p.N1390fs 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 112 0 0 86 23 21.1009 PPFIBP1 0 genome.wustl.edu 37 12 27813829 27813829 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 27813829 27813829 A - DEL PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known frame_shift_del c.917 p.M308fs 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 44 0 0 59 13 18.0556 PRICKLE1 0 genome.wustl.edu 37 12 42853627 42853627 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 42853627 42853627 T - DEL PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known frame_shift_del c.2480 p.N827fs 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 176 0 0 174 34 16.3462 ARID2 0 genome.wustl.edu 37 12 46245318 46245318 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 46245318 46245318 G - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_del c.3412 p.G1139fs 0.998 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 146 0 0 116 26 18.3099 KMT2D 0 genome.wustl.edu 37 12 49427265 49427266 + In_Frame_Ins INS - - TGC TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 49427265 49427266 - TGC INS KMT2D ENST00000301067 human ensembl 74_37 -1 known in_frame_ins c.11223_11222 p.3745in_frame_insQ 0.995:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 28 0 0 20 5 20 KMT2D 0 genome.wustl.edu 37 12 49431874 49431874 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 49431874 49431874 C - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.9265 p.V3089fs 0.784 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 36 0 0 35 8 18.6047 KMT2D 0 genome.wustl.edu 37 12 49445526 49445526 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 49445526 49445526 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.1940 p.P647fs 0.001 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 70 0 0 43 14 24.5614 KRT73 0 genome.wustl.edu 37 12 53004574 53004574 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 53004574 53004574 C - DEL KRT73 ENST00000305748 human ensembl 74_37 -1 known frame_shift_del c.1156 p.D386fs 0.997 pfam_IF,superfamily_Prefoldin,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 66 0 0 62 10 13.8889 OR9K2 0 genome.wustl.edu 37 12 55523806 55523807 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 55523806 55523807 - T INS OR9K2 ENST00000305377 human ensembl 74_37 +1 known frame_shift_ins c.254_255 p.L88fs 1.000:0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 230 0 0 219 51 18.8889 OR9K2 0 genome.wustl.edu 37 12 55524128 55524128 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 55524128 55524128 T - DEL OR9K2 ENST00000305377 human ensembl 74_37 +1 known frame_shift_del c.576 p.C194fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 114 0 0 84 21 20 OR6C4 0 genome.wustl.edu 37 12 55945307 55945307 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 55945307 55945307 T - DEL OR6C4 ENST00000394256 human ensembl 74_37 +1 known frame_shift_del c.297 p.F101fs 0.633 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C4 HGNC ENSG00000179626 111 0 0 93 27 22.5 RDH5 0 genome.wustl.edu 37 12 56117811 56117812 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 56117811 56117812 - G INS RDH5 ENST00000257895 human ensembl 74_37 +1 known frame_shift_ins c.711_712 p.A239fs 0.947:1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH5 HGNC ENSG00000135437 43 0 0 25 9 26.4706 DGKA 0 genome.wustl.edu 37 12 56347514 56347514 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 56347514 56347514 C - DEL DGKA ENST00000331886 human ensembl 74_37 +1 known frame_shift_del c.2170 p.R726fs 0.749 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 DGKA HGNC ENSG00000065357 137 0 0 90 15 14.2857 CDK2 0 genome.wustl.edu 37 12 56361582 56361582 + RNA DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 56361582 56361582 G - DEL CDK2 ENST00000556146 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK2 HGNC ENSG00000123374 31 0 0 17 7 29.1667 SMARCC2 0 genome.wustl.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 56559113 56559113 G - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_del c.3128 p.P1043fs 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 95 0 0 79 13 14.1304 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 122 0 0 88 17 16.1905 MBD6 0 genome.wustl.edu 37 12 57919556 57919556 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 57919556 57919556 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.805 p.P270fs 0.991 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 207 0 0 176 41 18.894 MBD6 0 genome.wustl.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 57921401 57921401 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2194 p.Q734fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 204 0 0 155 31 16.6667 PPM1H 0 genome.wustl.edu 37 12 63195674 63195674 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 63195674 63195674 G - DEL PPM1H ENST00000228705 human ensembl 74_37 -1 known frame_shift_del c.678 p.T227fs 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 83 0 0 44 15 25.4237 GRIP1 0 genome.wustl.edu 37 12 66786223 66786223 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 66786223 66786223 C - DEL GRIP1 ENST00000359742 human ensembl 74_37 -1 known frame_shift_del c.2329 p.D777fs 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 176 0 0 87 57 39.5833 BEST3 0 genome.wustl.edu 37 12 70091534 70091534 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 70091534 70091534 A - DEL BEST3 ENST00000330891 human ensembl 74_37 -1 known frame_shift_del c.45 p.F15fs 1.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 139 1 0.714286 108 38 26.0274 PTPRR 0 genome.wustl.edu 37 12 71286727 71286727 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 71286727 71286727 A - DEL PTPRR ENST00000283228 human ensembl 74_37 -1 known frame_shift_del c.89 p.L30fs 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 85 0 0 99 13 11.6071 TPH2 0 genome.wustl.edu 37 12 72355378 72355379 + RNA INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 72355378 72355379 - T INS TPH2 ENST00000546576 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TPH2 HGNC ENSG00000139287 43 0 0 41 9 18 BBS10 0 genome.wustl.edu 37 12 76739905 76739905 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 76739905 76739905 T - DEL BBS10 ENST00000393262 human ensembl 74_37 -1 known frame_shift_del c.1860 p.K620fs 0.998 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS10 HGNC ENSG00000179941 99 0 0 98 20 16.9492 MGAT4C 0 genome.wustl.edu 37 12 86373330 86373330 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 86373330 86373330 T - DEL MGAT4C ENST00000393205 human ensembl 74_37 -1 known frame_shift_del c.1261 p.I421fs 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 39 0 0 30 5 14.2857 CCDC38 0 genome.wustl.edu 37 12 96266209 96266210 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 12 96266209 96266210 - T INS CCDC38 ENST00000344280 human ensembl 74_37 -1 known frame_shift_ins c.1308_1307 p.I437fs 1.000:1.000 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 74 0 0 70 12 14.6341 FAM155A 0 genome.wustl.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 108518687 108518689 CTG - DEL FAM155A ENST00000375915 human ensembl 74_37 -1 known in_frame_del c.258_256 p.Q86in_frame_del 1.000:0.992:0.987 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 54 0 0 47 8 14.5455 MYO16 0 genome.wustl.edu 37 13 109661386 109661386 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 109661386 109661386 T - DEL MYO16 ENST00000356711 human ensembl 74_37 +1 known frame_shift_del c.2518 p.F842fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 73 0 0 63 12 16 F7 0 genome.wustl.edu 37 13 113771112 113771113 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 113771112 113771113 - A INS F7 ENST00000375581 human ensembl 74_37 +1 known frame_shift_ins c.604_605 p.R204fs 1.000:1.000 pirsf_Pept_S1A_FX,superfamily_Trypsin-like_Pept_dom pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 119 0 0 71 13 15.4762 XPO4 0 genome.wustl.edu 37 13 21437114 21437114 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 21437114 21437114 T - DEL XPO4 ENST00000490513 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors XPO4 HGNC ENSG00000132953 21 0 0 19 7 26.9231 BRCA2 0 genome.wustl.edu 37 13 32911321 32911322 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 32911321 32911322 - A INS BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_ins c.2829_2830 p.D945fs 0.000:0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 69 0 0 56 16 22.2222 PDS5B 0 genome.wustl.edu 37 13 33344286 33344286 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 33344286 33344286 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3652 p.T1220fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 79 0 0 60 6 9.09091 PDS5B 0 genome.wustl.edu 37 13 33344580 33344580 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 33344580 33344580 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3946 p.K1318fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 48 0 0 17 16 48.4848 SPG20 0 genome.wustl.edu 37 13 36909271 36909272 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 13 36909271 36909272 - A INS SPG20 ENST00000355182 human ensembl 74_37 -1 known frame_shift_ins c.697_696 p.V232fs 1.000:1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 105 0 0 72 20 21.7391 WDR20 0 genome.wustl.edu 37 14 102675066 102675067 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 102675066 102675067 - C INS WDR20 ENST00000454394 human ensembl 74_37 +1 known frame_shift_ins c.652_653 p.H220fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 67 0 0 39 11 22 INF2 0 genome.wustl.edu 37 14 105174185 105174185 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 105174185 105174185 C - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_del c.1581 p.V530fs 0.011 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 27 0 0 15 9 37.5 OR4K5 0 genome.wustl.edu 37 14 20389294 20389294 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 20389294 20389294 T - DEL OR4K5 ENST00000315915 human ensembl 74_37 +1 known frame_shift_del c.529 p.C179fs 0.411 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 278 2 0.714286 270 66 19.6429 OSGEP 0 genome.wustl.edu 37 14 20915788 20915788 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 20915788 20915788 A - DEL OSGEP ENST00000206542 human ensembl 74_37 -1 known frame_shift_del c.855 p.F285fs 1.000 pfam_Gcp-like_dom,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEP HGNC ENSG00000092094 63 0 0 61 12 16.4384 ENSG00000258908 0 genome.wustl.edu 37 14 20943125 20943125 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 20943125 20943125 T - DEL ENSG00000258908 ENST00000554678 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-203M5.8 Clone_based_vega_gene ENSG00000258908 65 0 0 63 20 24.0964 LOC101929718 0 genome.wustl.edu 37 14 21464349 21464349 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 21464349 21464349 T - DEL LOC101929718 ENST00000557335 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-84C10.4 Clone_based_vega_gene ENSG00000258471 254 1 0.392157 226 58 20.4225 ENSG00000270433 0 genome.wustl.edu 37 14 23764353 23764355 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 23764353 23764355 AAA - DEL ENSG00000270433 ENST00000604456 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002:0.007 - - - no_errors RP11-124D2.7 Clone_based_vega_gene ENSG00000270433 14 0 0 5 5 50 G2E3 0 genome.wustl.edu 37 14 31074772 31074772 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 31074772 31074772 A - DEL G2E3 ENST00000206595 human ensembl 74_37 +1 known frame_shift_del c.1072 p.T361fs 0.994 superfamily_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 35 0 0 33 7 17.5 NKX2-1-AS1 0 genome.wustl.edu 37 14 36988597 36988597 + RNA DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 36988597 36988597 G - DEL NKX2-1-AS1 ENST00000521292 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NKX2-1-AS1 HGNC ENSG00000253563 25 0 0 27 4 12.9032 NKX2-1-AS1 0 genome.wustl.edu 37 14 36988599 36988599 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 36988599 36988599 A - DEL NKX2-1-AS1 ENST00000521292 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NKX2-1-AS1 HGNC ENSG00000253563 26 0 0 27 3 10 PNN 0 genome.wustl.edu 37 14 39650339 39650344 + In_Frame_Del DEL CCTCAG CCTCAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CCTCAG CCTCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 39650339 39650344 CCTCAG - DEL PNN ENST00000216832 human ensembl 74_37 +1 known in_frame_del c.1426_1431 p.PQ478in_frame_del 0.024:0.002:0.046:0.778:0.786:0.002 NULL pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC ENSG00000100941 70 0 0 51 12 19.0476 FAM179B 0 genome.wustl.edu 37 14 45432122 45432122 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 45432122 45432122 G - DEL FAM179B ENST00000361577 human ensembl 74_37 +1 known frame_shift_del c.498 p.E168fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 154 0 0 109 25 18.6567 SRSF5 0 genome.wustl.edu 37 14 70238205 70238205 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 70238205 70238205 T - DEL SRSF5 ENST00000556587 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SRSF5 HGNC ENSG00000100650 87 0 0 76 10 11.6279 COX16 0 genome.wustl.edu 37 14 70795930 70795930 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 70795930 70795930 T - DEL COX16 ENST00000389912 human ensembl 74_37 -1 known frame_shift_del c.165 p.K55fs 0.991 NULL NULL - no_errors COX16 HGNC ENSG00000133983 59 0 0 57 9 13.6364 ELMSAN1 0 genome.wustl.edu 37 14 74206606 74206606 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 74206606 74206606 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.106 p.Q36fs 0.686 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 123 0 0 78 12 13.3333 ENSG00000258891 0 genome.wustl.edu 37 14 74363249 74363249 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 74363249 74363249 T - DEL ENSG00000258891 ENST00000554009 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-1021I20.5 Clone_based_vega_gene ENSG00000258891 78 0 0 57 14 19.7183 C14orf178 0 genome.wustl.edu 37 14 78235955 78235956 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 78235955 78235956 - C INS C14orf178 ENST00000355883 human ensembl 74_37 +1 known frame_shift_ins c.303_304 p.H102fs 0.001:0.000 NULL NULL - no_errors C14orf178 HGNC ENSG00000197734 41 0 0 30 6 16.6667 NRXN3 0 genome.wustl.edu 37 14 79433614 79433614 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 79433614 79433614 C - DEL NRXN3 ENST00000554738 human ensembl 74_37 +1 known frame_shift_del c.2808 p.L938fs 0.030 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,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 84 0 0 40 9 18.3673 BTBD7 0 genome.wustl.edu 37 14 93761193 93761193 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 93761193 93761193 T - DEL BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_del c.173 p.K58fs 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 157 0 0 142 27 15.9763 ATG2B 0 genome.wustl.edu 37 14 96783572 96783572 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 14 96783572 96783572 T - DEL ATG2B ENST00000359933 human ensembl 74_37 -1 known frame_shift_del c.3120 p.K1040fs 0.052 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 57 0 0 71 11 13.4146 EIF2AK4 0 genome.wustl.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 40282508 40282508 T - DEL EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known frame_shift_del c.2561 p.L856fs 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,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom - no_errors EIF2AK4 HGNC ENSG00000128829 203 0 0 224 54 19.4245 MGA 0 genome.wustl.edu 37 15 42019391 42019392 + Frame_Shift_Del DEL AG AG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 42019391 42019392 AG - DEL MGA ENST00000219905 human ensembl 74_37 +1 known frame_shift_del c.3444_3445 p.E1149fs 0.997:1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 28 0 0 34 9 20.9302 ZSCAN29 0 genome.wustl.edu 37 15 43653444 43653445 + Frame_Shift_Del DEL CA CA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 43653444 43653445 CA - DEL ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known frame_shift_del c.2386_2385 p.C795fs 1.000:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 103 0 0 90 23 20.354 ENSG00000259241 0 genome.wustl.edu 37 15 51987960 51987963 + RNA DEL AAAA AAAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 51987960 51987963 AAAA - DEL ENSG00000259241 ENST00000559918 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.012:0.011:0.004 - - - no_errors RP11-313P18.2 Clone_based_vega_gene ENSG00000259241 12 0 0 12 3 20 TMOD3 0 genome.wustl.edu 37 15 52161562 52161562 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 52161562 52161562 A - DEL TMOD3 ENST00000308580 human ensembl 74_37 +1 known frame_shift_del c.275 p.I97fs 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors TMOD3 HGNC ENSG00000138594 87 0 0 93 6 6.06061 PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 55912892 55912892 A - DEL PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_del c.3167 p.F1056fs 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 65 0 0 55 6 9.83607 SLTM 0 genome.wustl.edu 37 15 59182525 59182526 + Frame_Shift_Del DEL TC TC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 59182525 59182526 TC - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.2034_2033 p.R678fs 0.999:1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 196 1 0.507614 167 28 14.359 FOXB1 0 genome.wustl.edu 37 15 60297848 60297848 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 60297848 60297848 C - DEL FOXB1 ENST00000396057 human ensembl 74_37 +1 known frame_shift_del c.686 p.I231fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXB1 HGNC ENSG00000171956 26 0 0 21 5 19.2308 HERC1 0 genome.wustl.edu 37 15 63922683 63922683 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 63922683 63922683 C - DEL HERC1 ENST00000443617 human ensembl 74_37 -1 known frame_shift_del c.12948 p.S4317fs 0.630 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 251 0 0 236 56 19.1781 NOX5 0 genome.wustl.edu 37 15 69325403 69325403 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 69325403 69325403 C - DEL NOX5 ENST00000388866 human ensembl 74_37 +1 known frame_shift_del c.641 p.A216fs 1.000 NULL pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NOX5 HGNC ENSG00000255346 18 0 0 20 3 13.0435 TBC1D2B 0 genome.wustl.edu 37 15 78317749 78317749 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 78317749 78317749 T - DEL TBC1D2B ENST00000300584 human ensembl 74_37 -1 known frame_shift_del c.938 p.N313fs 0.087 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 89 0 0 60 9 13.0435 CHRNA3 0 genome.wustl.edu 37 15 78888892 78888894 + RNA DEL CCT CCT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 78888892 78888894 CCT - DEL CHRNA3 ENST00000559002 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000:0.000 - - - no_errors CHRNA3 HGNC ENSG00000080644 53 0 0 29 9 23.6842 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 181 0 0 117 28 19.3103 ACAN 0 genome.wustl.edu 37 15 89403636 89403636 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 89403636 89403636 C - DEL ACAN ENST00000439576 human ensembl 74_37 +1 known frame_shift_del c.6912 p.P2306fs 0.994 pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 40 0 0 22 5 18.5185 BLM 0 genome.wustl.edu 37 15 91304139 91304139 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 91304139 91304139 A - DEL BLM ENST00000355112 human ensembl 74_37 +1 known frame_shift_del c.1536 p.N515fs 0.003 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 89 0 0 74 23 23.7113 BLM 0 genome.wustl.edu 37 15 91310208 91310208 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 91310208 91310208 A - DEL BLM ENST00000355112 human ensembl 74_37 +1 known frame_shift_del c.2262 p.D757fs 0.535 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 81 0 0 82 24 22.6415 CHD2 0 genome.wustl.edu 37 15 93540529 93540530 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 93540529 93540530 - G INS CHD2 ENST00000557381 human ensembl 74_37 +1 putative frame_shift_ins c.3781_3782 p.V1263fs 1.000:1.000 superfamily_Homeodomain-like pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 105 0 0 74 19 20.4301 FAM169B 0 genome.wustl.edu 37 15 99023974 99023975 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 15 99023974 99023975 - A INS FAM169B ENST00000332908 human ensembl 74_37 -1 known frame_shift_ins c.39_38 p.I14fs 0.027:0.986 NULL NULL - no_errors FAM169B HGNC ENSG00000185087 55 0 0 49 11 18.3333 ZC3H7A 0 genome.wustl.edu 37 16 11873221 11873222 + Splice_Site INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 11873221 11873222 - A INS ZC3H7A ENST00000355758 human ensembl 74_37 -1 known splice_site_ins c.109-3_109-2 e3-2 0.996:0.002 - - - no_errors ZC3H7A HGNC ENSG00000122299 57 0 0 43 9 17.3077 MYH11 0 genome.wustl.edu 37 16 15802686 15802687 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 15802686 15802687 - G INS MYH11 ENST00000452625 human ensembl 74_37 -1 known frame_shift_ins c.5820_5819 p.Q1941fs 1.000:1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 19 0 0 10 4 28.5714 KNOP1 0 genome.wustl.edu 37 16 19722724 19722724 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 19722724 19722724 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.957 p.G320fs 0.536 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 84 0 0 56 18 24.3243 EEF2K 0 genome.wustl.edu 37 16 22262606 22262606 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 22262606 22262606 G - DEL EEF2K ENST00000263026 human ensembl 74_37 +1 known frame_shift_del c.581 p.E196fs 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 93 0 0 48 14 22.5806 IL4R 0 genome.wustl.edu 37 16 27374719 27374719 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 27374719 27374719 G - DEL IL4R ENST00000170630 human ensembl 74_37 +1 known frame_shift_del c.2046 p.E684fs 0.000 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 85 0 0 47 7 12.963 SRRM2 0 genome.wustl.edu 37 16 2813625 2813626 + Frame_Shift_Ins INS - - CT TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 2813625 2813626 - CT INS SRRM2 ENST00000301740 human ensembl 74_37 +1 known frame_shift_ins c.3096_3097 p.C1035fs 0.000:0.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 160 0 0 115 32 21.7687 KIF22 0 genome.wustl.edu 37 16 29816226 29816226 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 29816226 29816226 A - DEL KIF22 ENST00000160827 human ensembl 74_37 +1 known frame_shift_del c.1769 p.I592fs 0.982 NULL 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 52 0 0 29 4 12.1212 SEZ6L2 0 genome.wustl.edu 37 16 29884572 29884572 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 29884572 29884572 G - DEL SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known frame_shift_del c.2477 p.P826fs 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 54 0 0 35 13 27.0833 SEZ6L2 0 genome.wustl.edu 37 16 29908311 29908311 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 29908311 29908311 C - DEL SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known frame_shift_del c.343 p.A115fs 0.997 NULL pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 16 0 0 12 2 14.2857 ALDOA 0 genome.wustl.edu 37 16 30078939 30078940 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 30078939 30078940 - C INS ALDOA ENST00000338110 human ensembl 74_37 +1 known frame_shift_ins c.281_282 p.Q96fs 1.000:1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 101 0 0 84 26 23.6364 ZNF48 0 genome.wustl.edu 37 16 30409310 30409310 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 30409310 30409310 C - DEL ZNF48 ENST00000320159 human ensembl 74_37 +1 known frame_shift_del c.739 p.R249fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 82 0 0 60 11 15.493 SETD1A 0 genome.wustl.edu 37 16 30995289 30995291 + In_Frame_Del DEL ACA ACA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 30995289 30995291 ACA - DEL SETD1A ENST00000262519 human ensembl 74_37 +1 known in_frame_del c.5069_5071 p.N1691in_frame_del 1.000:1.000:1.000 smart_SET_dom,smart_Post-SET_dom,pfscan_Post-SET_dom pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 49 0 0 33 12 26.6667 ZNF668 0 genome.wustl.edu 37 16 31072705 31072706 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 31072705 31072706 - G INS ZNF668 ENST00000426488 human ensembl 74_37 -1 known frame_shift_ins c.1613_1612 p.Q538fs 0.976:0.963 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 111 0 0 89 19 17.5926 PRSS53 0 genome.wustl.edu 37 16 31098131 31098131 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 31098131 31098131 C - DEL PRSS53 ENST00000280606 human ensembl 74_37 -1 known frame_shift_del c.331 p.V111fs 0.010 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 82 0 0 49 20 28.9855 LOC100134368 0 genome.wustl.edu 37 16 436712 436714 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 436712 436714 AAA - DEL LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001:0.000 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 23 0 0 9 2 18.1818 DECR2 0 genome.wustl.edu 37 16 456504 456504 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 456504 456504 T - DEL DECR2 ENST00000461802 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DECR2 HGNC ENSG00000242612 13 0 0 10 4 28.5714 C16orf71 0 genome.wustl.edu 37 16 4796953 4796955 + In_Frame_Del DEL GAG GAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 4796953 4796955 GAG - DEL C16orf71 ENST00000299320 human ensembl 74_37 +1 known in_frame_del c.1207_1209 p.E406in_frame_del 0.984:0.985:0.987 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 19 0 0 9 2 18.1818 OGFOD1 0 genome.wustl.edu 37 16 56492433 56492433 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 56492433 56492433 T - DEL OGFOD1 ENST00000565682 human ensembl 74_37 +1 known frame_shift_del c.309 p.S106fs 0.001 NULL NULL - no_errors OGFOD1 HGNC ENSG00000087263 55 0 0 48 11 18.6441 NLRC5 0 genome.wustl.edu 37 16 57060196 57060196 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 57060196 57060196 C - DEL NLRC5 ENST00000262510 human ensembl 74_37 +1 known frame_shift_del c.1341 p.P449fs 0.900 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 106 0 0 71 17 19.3182 GPR114 0 genome.wustl.edu 37 16 57600565 57600566 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 57600565 57600566 - G INS GPR114 ENST00000340339 human ensembl 74_37 +1 known frame_shift_ins c.601_602 p.W204fs 0.955:0.995 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 131 0 0 85 20 19.0476 CNOT1 0 genome.wustl.edu 37 16 58589340 58589340 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 58589340 58589340 A - DEL CNOT1 ENST00000317147 human ensembl 74_37 -1 known frame_shift_del c.2706 p.Q904fs 0.995 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 127 0 0 135 24 15.0943 PIGQ 0 genome.wustl.edu 37 16 633473 633473 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 633473 633473 C - DEL PIGQ ENST00000026218 human ensembl 74_37 +1 known frame_shift_del c.2122 p.S710fs 0.007 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 83 0 0 49 16 24.6154 KIAA0895L 0 genome.wustl.edu 37 16 67214469 67214469 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 67214469 67214469 G - DEL KIAA0895L ENST00000290881 human ensembl 74_37 -1 known frame_shift_del c.45 p.S16fs 1.000 NULL pfam_DUF1704 - no_errors KIAA0895L HGNC ENSG00000196123 60 0 0 34 7 17.0732 CDH3 0 genome.wustl.edu 37 16 68732248 68732248 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 68732248 68732248 G - DEL CDH3 ENST00000264012 human ensembl 74_37 +1 known frame_shift_del c.2435 p.G813fs 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 201 0 0 109 26 19.2593 DDX19A 0 genome.wustl.edu 37 16 70398964 70398964 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 70398964 70398964 A - DEL DDX19A ENST00000302243 human ensembl 74_37 +1 known frame_shift_del c.534 p.V180fs 0.992 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19A HGNC ENSG00000168872 128 0 0 88 22 20 HYDIN 0 genome.wustl.edu 37 16 70952161 70952162 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 70952161 70952162 - T INS HYDIN ENST00000393567 human ensembl 74_37 -1 putative frame_shift_ins c.7957_7956 p.E2652fs 0.895:0.807 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 84 0 0 63 4 5.97015 ZFHX3 0 genome.wustl.edu 37 16 72830903 72830904 + Frame_Shift_Del DEL CT CT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 72830903 72830904 CT - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.5678_5677 p.R1893fs 0.999:0.991 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 ZFHX3 HGNC ENSG00000140836 89 0 0 61 20 24.6914 JMJD8 0 genome.wustl.edu 37 16 733220 733220 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 733220 733220 C - DEL JMJD8 ENST00000293882 human ensembl 74_37 -1 known frame_shift_del c.736 p.V246fs 1.000 pfscan_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD8 HGNC ENSG00000161999 65 0 0 52 8 13.3333 ADAMTS18 0 genome.wustl.edu 37 16 77396098 77396109 + In_Frame_Del DEL CAGACTGCCATT CAGACTGCCATT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CAGACTGCCATT CAGACTGCCATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 77396098 77396109 CAGACTGCCATT - DEL ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known in_frame_del c.1120_1109 p.QWQSA370in_frame_delP 1.000:0.887:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 56 0 0 43 13 23.2143 GSE1 0 genome.wustl.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 85682289 85682290 - C INS GSE1 ENST00000253458 human ensembl 74_37 +1 known frame_shift_ins c.358_359 p.V123fs 1.000:0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 138 1 0.719424 54 10 15.625 TCF25 0 genome.wustl.edu 37 16 89951020 89951020 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 16 89951020 89951020 A - DEL TCF25 ENST00000263346 human ensembl 74_37 +1 known frame_shift_del c.385 p.K131fs 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 38 0 0 14 8 36.3636 MYH3 0 genome.wustl.edu 37 17 10555835 10555836 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 10555835 10555836 - G INS MYH3 ENST00000226209 human ensembl 74_37 -1 known frame_shift_ins c.250_249 p.K83fs 1.000:0.640 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 124 0 0 99 26 20.8 LOC100128006 0 genome.wustl.edu 37 17 12663850 12663850 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 12663850 12663850 A - DEL LOC100128006 ENST00000584772 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000265489 10 0 0 8 5 38.4615 PRPF8 0 genome.wustl.edu 37 17 1562781 1562781 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 1562781 1562781 C - DEL PRPF8 ENST00000304992 human ensembl 74_37 -1 known frame_shift_del c.5008 p.D1670fs 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 172 0 0 89 25 21.9298 MPRIP 0 genome.wustl.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 17046886 17046886 C - DEL MPRIP ENST00000395811 human ensembl 74_37 +1 known frame_shift_del c.1052 p.P353fs 0.999 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 50 0 0 23 7 23.3333 SREBF1 0 genome.wustl.edu 37 17 17719623 17719624 + Frame_Shift_Del DEL CT CT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 17719623 17719624 CT - DEL SREBF1 ENST00000355815 human ensembl 74_37 -1 known frame_shift_del c.2202_2201 p.E734fs 1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 14 0 0 8 3 27.2727 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 144 0 0 100 24 19.3548 SPECC1 0 genome.wustl.edu 37 17 20135668 20135668 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 20135668 20135668 G - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.2301 p.D769fs 0.996 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 34 0 0 24 11 31.4286 FOXN1 0 genome.wustl.edu 37 17 26864250 26864250 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 26864250 26864250 C - DEL FOXN1 ENST00000226247 human ensembl 74_37 +1 known frame_shift_del c.1743 p.P583fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 82 0 0 56 17 23.2877 SSH2 0 genome.wustl.edu 37 17 27959375 27959375 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 27959375 27959375 G - DEL SSH2 ENST00000269033 human ensembl 74_37 -1 known frame_shift_del c.2756 p.P919fs 0.003 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 327 0 0 230 47 16.9675 ENSG00000266535 0 genome.wustl.edu 37 17 31439098 31439099 + RNA DEL AG AG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 31439098 31439099 AG - DEL ENSG00000266535 ENST00000584688 human ensembl 74_37 +1 known rna NULL NULL 0.563:0.970 - - - no_errors RP11-40A13.1 Clone_based_vega_gene ENSG00000266535 34 0 0 20 7 25.9259 MMP28 0 genome.wustl.edu 37 17 34106047 34106048 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 34106047 34106048 - T INS MMP28 ENST00000587639 human ensembl 74_37 -1 known frame_shift_ins c.224_223 p.S75fs 1.000:1.000 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like - no_errors MMP28 HGNC ENSG00000129270 40 0 0 29 9 23.6842 P2RX1 0 genome.wustl.edu 37 17 3819462 3819462 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 3819462 3819462 G - DEL P2RX1 ENST00000225538 human ensembl 74_37 -1 known frame_shift_del c.58 p.R20fs 0.997 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX1 HGNC ENSG00000108405 142 0 0 120 22 15.493 KRT33A 0 genome.wustl.edu 37 17 39506948 39506948 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 39506948 39506948 G - DEL KRT33A ENST00000007735 human ensembl 74_37 -1 known frame_shift_del c.72 p.S25fs 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 83 0 0 64 17 20.9877 CNTD1 0 genome.wustl.edu 37 17 40963563 40963564 + RNA INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 40963563 40963564 - T INS CNTD1 ENST00000315066 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CNTD1 HGNC ENSG00000176563 30 0 0 27 5 15.625 CCDC43 0 genome.wustl.edu 37 17 42756253 42756253 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 42756253 42756253 T - DEL CCDC43 ENST00000315286 human ensembl 74_37 -1 known frame_shift_del c.646 p.R216fs 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 37 0 0 41 11 21.1538 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 107 0 0 54 24 30.7692 WFIKKN2 0 genome.wustl.edu 37 17 48917254 48917254 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 48917254 48917254 C - DEL WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known frame_shift_del c.605 p.P203fs 1.000 NULL pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 102 0 0 50 9 15.2542 HLF 0 genome.wustl.edu 37 17 53398248 53398248 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 53398248 53398248 T - DEL HLF ENST00000575307 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors HLF HGNC ENSG00000108924 22 0 0 10 6 37.5 CEP112 0 genome.wustl.edu 37 17 63685280 63685280 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 63685280 63685280 T - DEL CEP112 ENST00000392769 human ensembl 74_37 -1 known frame_shift_del c.2664 p.K888fs 0.024 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 78 0 0 57 17 22.973 CEP112 0 genome.wustl.edu 37 17 63739219 63739221 + In_Frame_Del DEL CTT CTT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 63739219 63739221 CTT - DEL CEP112 ENST00000392769 human ensembl 74_37 -1 known in_frame_del c.2574_2572 p.K858in_frame_del 1.000:0.972:0.735 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 41 0 0 33 7 17.5 MRPS7 0 genome.wustl.edu 37 17 73258565 73258565 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 73258565 73258565 C - DEL MRPS7 ENST00000579002 human ensembl 74_37 +1 putative frame_shift_del c.158 p.P55fs 0.000 NULL pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom - no_errors MRPS7 HGNC ENSG00000125445 283 1 0.352113 184 37 16.7421 KIAA0195 0 genome.wustl.edu 37 17 73487871 73487871 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 73487871 73487871 C - DEL KIAA0195 ENST00000314256 human ensembl 74_37 +1 known frame_shift_del c.1486 p.E498fs 0.428 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 67 0 0 42 10 19.2308 KIAA0195 0 genome.wustl.edu 37 17 73491063 73491063 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 73491063 73491063 C - DEL KIAA0195 ENST00000314256 human ensembl 74_37 +1 known frame_shift_del c.2676 p.S895fs 0.999 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 142 0 0 88 25 22.1239 MYH10 0 genome.wustl.edu 37 17 8455425 8455425 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 17 8455425 8455425 T - DEL MYH10 ENST00000396239 human ensembl 74_37 -1 known frame_shift_del c.828 p.D277fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 55 0 0 50 8 13.7931 ROCK1 0 genome.wustl.edu 37 18 18533679 18533679 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 18533679 18533679 T - DEL ROCK1 ENST00000399799 human ensembl 74_37 -1 known frame_shift_del c.3921 p.K1307fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 105 0 0 97 11 10.1852 ROCK1 0 genome.wustl.edu 37 18 18625422 18625422 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 18625422 18625422 A - DEL ROCK1 ENST00000399799 human ensembl 74_37 -1 known frame_shift_del c.421 p.Y141fs 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,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 29 0 0 32 8 20 CTAGE1 0 genome.wustl.edu 37 18 19995553 19995553 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 19995553 19995553 G - DEL CTAGE1 ENST00000391403 human ensembl 74_37 -1 known frame_shift_del c.2222 p.P741fs 0.003 NULL NULL - no_errors CTAGE1 HGNC ENSG00000212710 50 0 0 32 11 25.5814 SYT4 0 genome.wustl.edu 37 18 40857246 40857246 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 40857246 40857246 T - DEL SYT4 ENST00000255224 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 69 0 0 52 12 18.75 ALPK2 0 genome.wustl.edu 37 18 56246440 56246440 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 56246440 56246440 T - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.1568 p.K523fs 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 344 0 0 259 46 15.082 TXNDC2 0 genome.wustl.edu 37 18 9888061 9888061 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 18 9888061 9888061 A - DEL TXNDC2 ENST00000306084 human ensembl 74_37 +1 known frame_shift_del c.1585 p.E531fs 0.999 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 48 0 0 40 9 18.3673 ZNF490 0 genome.wustl.edu 37 19 12693682 12693682 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 12693682 12693682 T - DEL ZNF490 ENST00000311437 human ensembl 74_37 -1 known frame_shift_del c.332 p.N111fs 0.042 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF490 HGNC ENSG00000188033 89 0 0 70 17 19.5402 CACNA1A 0 genome.wustl.edu 37 19 13397458 13397459 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 13397458 13397459 - G INS CACNA1A ENST00000360228 human ensembl 74_37 -1 known frame_shift_ins c.3412_3411 p.K1137fs 1.000:1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 35 0 0 22 5 18.5185 SLC1A6 0 genome.wustl.edu 37 19 15067447 15067447 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 15067447 15067447 C - DEL SLC1A6 ENST00000221742 human ensembl 74_37 -1 known frame_shift_del c.1010 p.G337fs 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 89 0 0 68 8 10.5263 MAP1S 0 genome.wustl.edu 37 19 17837968 17837969 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 17837968 17837969 - C INS MAP1S ENST00000324096 human ensembl 74_37 +1 known frame_shift_ins c.1775_1776 p.S595fs 0.883:0.532 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 12 0 0 15 4 21.0526 ATP8B3 0 genome.wustl.edu 37 19 1785177 1785177 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 1785177 1785177 G - DEL ATP8B3 ENST00000539485 human ensembl 74_37 -1 known frame_shift_del c.3543 p.T1182fs 0.001 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 14 0 0 7 5 41.6667 SUGP2 0 genome.wustl.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 19136394 19136394 T - DEL SUGP2 ENST00000337018 human ensembl 74_37 -1 known frame_shift_del c.763 p.I255fs 0.000 NULL 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 160 1 0.621118 135 43 24.1573 ZNF90 0 genome.wustl.edu 37 19 20236361 20236361 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 20236361 20236361 A - DEL ZNF90 ENST00000474284 human ensembl 74_37 +1 known rna NULL NULL 0.863 - - - no_errors ZNF90 HGNC ENSG00000213988 13 0 0 8 6 42.8571 ZNF208 0 genome.wustl.edu 37 19 22157493 22157493 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 22157493 22157493 T - DEL ZNF208 ENST00000397126 human ensembl 74_37 -1 novel frame_shift_del c.343 p.I115fs 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 83 0 0 62 17 21.519 ZNF98 0 genome.wustl.edu 37 19 22575732 22575732 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 22575732 22575732 T - DEL ZNF98 ENST00000357774 human ensembl 74_37 -1 known frame_shift_del c.305 p.N102fs 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 15 0 0 13 6 31.5789 LOC100506469 0 genome.wustl.edu 37 19 36034180 36034180 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 36034180 36034180 A - DEL LOC100506469 ENST00000588286 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AD000090.2 Clone_based_vega_gene ENSG00000236144 64 0 0 41 17 29.3103 KMT2B 0 genome.wustl.edu 37 19 36210763 36210764 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 36210763 36210764 - C INS KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_ins c.514_515 p.K176fs 0.976:0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 170 0 0 119 16 11.8519 ZNF585A 0 genome.wustl.edu 37 19 37644081 37644082 + Frame_Shift_Del DEL TC TC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 37644081 37644082 TC - DEL ZNF585A ENST00000356958 human ensembl 74_37 -1 known frame_shift_del c.720_719 p.R240fs 0.997:0.998 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 ZNF585A HGNC ENSG00000196967 130 0 0 85 25 22.7273 ZFP30 0 genome.wustl.edu 37 19 38127036 38127036 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 38127036 38127036 T - DEL ZFP30 ENST00000351218 human ensembl 74_37 -1 known frame_shift_del c.406 p.M136fs 0.171 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP30 HGNC ENSG00000120784 82 0 0 72 21 22.5806 CIC 0 genome.wustl.edu 37 19 42794441 42794441 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 42794441 42794441 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.1521 p.P509fs 0.126 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 125 0 0 73 26 26.2626 CIC 0 genome.wustl.edu 37 19 42794627 42794627 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 42794627 42794627 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.1707 p.L571fs 0.270 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 109 0 0 60 20 25 ZNF180 0 genome.wustl.edu 37 19 44982020 44982020 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 44982020 44982020 T - DEL ZNF180 ENST00000221327 human ensembl 74_37 -1 known frame_shift_del c.678 p.K226fs 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF180 HGNC ENSG00000167384 77 0 0 76 14 15.5556 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 45419666 45419666 A - DEL APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_del c.278 p.T96fs 0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 28 0 0 17 5 22.7273 LMTK3 0 genome.wustl.edu 37 19 49000731 49000732 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49000731 49000732 - G INS LMTK3 ENST00000270238 human ensembl 74_37 -1 known frame_shift_ins c.3682_3681 p.K1227fs 0.985:0.998 smart_Ser/Thr_dual-sp_kinase_dom 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 LMTK3 HGNC ENSG00000142235 71 0 0 49 8 14.0351 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 90 0 0 77 15 16.3043 NTF4 0 genome.wustl.edu 37 19 49564798 49564798 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49564798 49564798 C - DEL NTF4 ENST00000301411 human ensembl 74_37 -1 known frame_shift_del c.457 p.A153fs 0.017 pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-4,pfscan_Nerve_growth_factor-rel - no_errors NTF4 HGNC ENSG00000225950 90 0 0 64 13 16.8831 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 268 2 0.740741 196 36 15.5172 MYH14 0 genome.wustl.edu 37 19 50726530 50726530 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 50726530 50726530 A - DEL MYH14 ENST00000262269 human ensembl 74_37 +1 known frame_shift_del c.617 p.N207fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 31 0 0 23 3 11.5385 ZNF701 0 genome.wustl.edu 37 19 53086002 53086002 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 53086002 53086002 A - DEL ZNF701 ENST00000301093 human ensembl 74_37 +1 known frame_shift_del c.888 p.K298fs 0.000 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 ZNF701 HGNC ENSG00000167562 71 0 0 75 9 10.7143 ZNRF4 0 genome.wustl.edu 37 19 5456643 5456643 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 5456643 5456643 C - DEL ZNRF4 ENST00000222033 human ensembl 74_37 +1 known frame_shift_del c.1141 p.I383fs 0.024 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 99 0 0 83 9 9.78261 LENG9 0 genome.wustl.edu 37 19 54973589 54973589 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 54973589 54973589 G - DEL LENG9 ENST00000333834 human ensembl 74_37 -1 known frame_shift_del c.1187 p.P396fs 0.000 superfamily_RNA_ligase/cNuc_Pdiesterase superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 105 0 0 63 32 33.6842 LILRB1 0 genome.wustl.edu 37 19 55143504 55143506 + In_Frame_Del DEL AGG AGG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 55143504 55143506 AGG - DEL LILRB1 ENST00000324602 human ensembl 74_37 +1 known in_frame_del c.477_479 p.G160in_frame_del 0.017:0.016:0.006 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 161 0 0 119 28 19.0476 EPS8L1 0 genome.wustl.edu 37 19 55593835 55593836 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 55593835 55593836 - G INS EPS8L1 ENST00000201647 human ensembl 74_37 +1 known frame_shift_ins c.1079_1080 p.P363fs 0.004:0.001 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 44 0 0 33 11 25 SYT5 0 genome.wustl.edu 37 19 55689729 55689729 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 55689729 55689729 G - DEL SYT5 ENST00000354308 human ensembl 74_37 -1 known frame_shift_del c.87 p.W30fs 0.997 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 14 0 0 17 5 22.7273 ZNF524 0 genome.wustl.edu 37 19 56113645 56113646 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 56113645 56113646 - C INS ZNF524 ENST00000301073 human ensembl 74_37 +1 known frame_shift_ins c.167_168 p.K59fs 0.068:0.040 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF524 HGNC ENSG00000171443 19 0 0 16 5 23.8095 SAFB 0 genome.wustl.edu 37 19 5667114 5667115 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 5667114 5667115 - G INS SAFB ENST00000588852 human ensembl 74_37 +1 known frame_shift_ins c.2392_2393 p.Y801fs 0.983:1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 82 0 0 84 13 13.4021 FUT3 0 genome.wustl.edu 37 19 5844463 5844464 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 5844463 5844464 - C INS FUT3 ENST00000303225 human ensembl 74_37 -1 known frame_shift_ins c.388_387 p.Q129fs 0.996:0.165 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT3 HGNC ENSG00000171124 86 0 0 75 18 19.3548 C3 0 genome.wustl.edu 37 19 6697481 6697481 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 6697481 6697481 G - DEL C3 ENST00000245907 human ensembl 74_37 -1 known frame_shift_del c.2670 p.K891fs 0.014 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 77 0 0 60 13 17.8082 TIMM44 0 genome.wustl.edu 37 19 8002975 8002975 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 19 8002975 8002975 T - DEL TIMM44 ENST00000270538 human ensembl 74_37 -1 known frame_shift_del c.249 p.K83fs 0.998 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 211 0 0 201 37 15.5462 RANBP2 0 genome.wustl.edu 37 2 109379723 109379723 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 109379723 109379723 C - DEL RANBP2 ENST00000283195 human ensembl 74_37 +1 known frame_shift_del c.2728 p.Q911fs 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 84 0 0 57 17 22.973 RANBP2 0 genome.wustl.edu 37 2 109380873 109380873 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 109380873 109380873 T - DEL RANBP2 ENST00000283195 human ensembl 74_37 +1 known frame_shift_del c.3878 p.F1294fs 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 113 0 0 115 27 19.0141 SEPT10 0 genome.wustl.edu 37 2 110301828 110301828 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 110301828 110301828 T - DEL SEPT10 ENST00000356688 human ensembl 74_37 -1 putative frame_shift_del c.1506 p.K502fs 0.004 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT10 HGNC ENSG00000186522 35 0 0 28 9 24.3243 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 53 0 0 38 8 17.3913 SPOPL 0 genome.wustl.edu 37 2 139318408 139318409 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 139318408 139318409 - T INS SPOPL ENST00000280098 human ensembl 74_37 +1 known frame_shift_ins c.748_749 p.K252fs 1.000:1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 79 0 0 54 13 19.403 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 100 1 0.990099 70 48 40.678 RBM43 0 genome.wustl.edu 37 2 152108088 152108088 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 152108088 152108088 T - DEL RBM43 ENST00000331426 human ensembl 74_37 -1 known frame_shift_del c.406 p.I136fs 0.959 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 135 0 0 139 28 16.7665 NEB 0 genome.wustl.edu 37 2 152410393 152410393 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 152410393 152410393 G - DEL NEB ENST00000397345 human ensembl 74_37 -1 known frame_shift_del c.19575 p.D6526fs 0.063 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 77 0 0 68 14 17.0732 UPP2 0 genome.wustl.edu 37 2 158980303 158980303 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 158980303 158980303 A - DEL UPP2 ENST00000409859 human ensembl 74_37 +1 known frame_shift_del c.878 p.K295fs 0.985 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 54 0 0 34 22 39.2857 XIRP2 0 genome.wustl.edu 37 2 168106361 168106361 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 168106361 168106361 A - DEL XIRP2 ENST00000295237 human ensembl 74_37 +1 known frame_shift_del c.8459 p.N2822fs 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 70 0 0 63 14 18.1818 LRP2 0 genome.wustl.edu 37 2 169997024 169997025 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 169997024 169997025 - G INS LRP2 ENST00000263816 human ensembl 74_37 -1 known frame_shift_ins c.13140_13139 p.C4381fs 1.000:1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 62 0 0 56 7 11.1111 KLHL41 0 genome.wustl.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 170366496 170366496 A - DEL KLHL41 ENST00000284669 human ensembl 74_37 +1 known frame_shift_del c.208 p.K72fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL41 HGNC ENSG00000239474 164 1 0.606061 151 44 22.5641 ITGA6 0 genome.wustl.edu 37 2 173335733 173335733 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 173335733 173335733 T - DEL ITGA6 ENST00000264106 human ensembl 74_37 +1 known frame_shift_del c.675 p.F227fs 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 71 0 0 68 13 16.0494 RAD51AP2 0 genome.wustl.edu 37 2 17698737 17698737 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 17698737 17698737 T - DEL RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known frame_shift_del c.946 p.T316fs 0.003 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 52 0 0 46 12 20.6897 TTN-AS1 0 genome.wustl.edu 37 2 179392052 179392052 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179392052 179392052 A - DEL TTN-AS1 ENST00000587576 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors TTN-AS1 HGNC ENSG00000237298 38 0 0 26 7 21.2121 TTN 0 genome.wustl.edu 37 2 179414065 179414069 + Frame_Shift_Del DEL CTTTT CTTTT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CTTTT CTTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179414065 179414069 CTTTT - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.84584_84580 p.K28194fs 1.000:1.000:0.982:1.000:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 106 0 0 61 12 16.4384 ENSG00000271141 0 genome.wustl.edu 37 2 179481360 179481361 + RNA INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179481360 179481361 - A INS ENSG00000271141 ENST00000605334 human ensembl 74_37 +1 known rna NULL NULL 0.942:0.925 - - - no_errors RP11-171I2.4 Clone_based_vega_gene ENSG00000271141 81 0 0 65 15 18.75 TTN 0 genome.wustl.edu 37 2 179528765 179528765 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 179528765 179528765 T - DEL TTN ENST00000589042 human ensembl 74_37 -1 putative frame_shift_del c.36341 p.K12114fs 0.324 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 136 0 0 84 20 19.2308 PMS1 0 genome.wustl.edu 37 2 190670540 190670541 + Frame_Shift_Del DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 190670540 190670541 AA - DEL PMS1 ENST00000409985 human ensembl 74_37 +1 novel frame_shift_del c.478_479 p.K163fs 0.001:0.000 NULL pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd - no_errors PMS1 HGNC ENSG00000064933 25 0 0 19 9 32.1429 ANKRD44 0 genome.wustl.edu 37 2 197860117 197860118 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 197860117 197860118 - T INS ANKRD44 ENST00000328737 human ensembl 74_37 -1 known frame_shift_ins c.2742_2741 p.N914fs 0.967:1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 66 0 0 42 11 20.7547 ANKRD44 0 genome.wustl.edu 37 2 197860118 197860118 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 197860118 197860118 T - DEL ANKRD44 ENST00000328737 human ensembl 74_37 -1 known frame_shift_del c.2741 p.N914fs 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 66 0 0 45 8 15.0943 ANKRD44 0 genome.wustl.edu 37 2 197943382 197943383 + Frame_Shift_Ins INS - - TG TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 197943382 197943383 - TG INS ANKRD44 ENST00000409153 human ensembl 74_37 -1 known frame_shift_ins c.1695_1694 p.T566fs 0.000:0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 16 0 0 14 6 30 BZW1 0 genome.wustl.edu 37 2 201683505 201683505 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 201683505 201683505 A - DEL BZW1 ENST00000409600 human ensembl 74_37 +1 known frame_shift_del c.847 p.N285fs 1.000 superfamily_ARM-type_fold pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 55 0 0 32 6 15.7895 RAPH1 0 genome.wustl.edu 37 2 204305619 204305620 + Frame_Shift_Del DEL GG GG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 204305619 204305620 GG - DEL RAPH1 ENST00000374493 human ensembl 74_37 -1 known frame_shift_del c.2450_2449 p.P817fs 0.409:0.050 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 126 1 0.787402 83 18 17.8218 SPAG16 0 genome.wustl.edu 37 2 214727284 214727284 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 214727284 214727284 A - DEL SPAG16 ENST00000331683 human ensembl 74_37 +1 known frame_shift_del c.1146 p.K383fs 0.038 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 99 0 0 74 16 17.7778 ABCA12 0 genome.wustl.edu 37 2 215914421 215914422 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 215914421 215914422 - A INS ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_ins c.622_621 p.N207fs 0.759:0.717 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 42 0 0 36 11 23.4043 SMARCAL1 0 genome.wustl.edu 37 2 217280119 217280119 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 217280119 217280119 A - DEL SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known frame_shift_del c.692 p.G233fs 0.000 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 125 0 0 84 24 22.2222 TNS1 0 genome.wustl.edu 37 2 218696258 218696258 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 218696258 218696258 G - DEL TNS1 ENST00000171887 human ensembl 74_37 -1 known frame_shift_del c.2918 p.P973fs 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 15 0 0 3 3 50 SPEG 0 genome.wustl.edu 37 2 220326765 220326765 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 220326765 220326765 C - DEL SPEG ENST00000396695 human ensembl 74_37 +1 known frame_shift_del c.226 p.T78fs 0.998 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 62 0 0 50 10 16.6667 SLC4A3 0 genome.wustl.edu 37 2 220494118 220494118 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 220494118 220494118 A - DEL SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_del c.470 p.H157fs 0.001 prints_Anion_exchange_3 pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 20 0 0 11 7 38.8889 DOCK10 0 genome.wustl.edu 37 2 225729790 225729790 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 225729790 225729790 A - DEL DOCK10 ENST00000258390 human ensembl 74_37 -1 known frame_shift_del c.1272 p.F424fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 102 1 0.970874 87 21 19.4444 DGKD 0 genome.wustl.edu 37 2 234365952 234365952 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 234365952 234365952 G - DEL DGKD ENST00000264057 human ensembl 74_37 +1 known frame_shift_del c.2558 p.G855fs 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 93 0 0 51 16 23.8806 HDAC4 0 genome.wustl.edu 37 2 240066299 240066299 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 240066299 240066299 T - DEL HDAC4 ENST00000345617 human ensembl 74_37 -1 known frame_shift_del c.845 p.K282fs 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 121 0 0 98 18 15.5172 AGXT 0 genome.wustl.edu 37 2 241808307 241808308 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 241808307 241808308 - C INS AGXT ENST00000307503 human ensembl 74_37 +1 known frame_shift_ins c.25_26 p.K12fs 0.000:0.001 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 29 0 0 14 3 17.6471 NCOA1 0 genome.wustl.edu 37 2 24991211 24991211 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 24991211 24991211 C - DEL NCOA1 ENST00000348332 human ensembl 74_37 +1 known frame_shift_del c.4277 p.Q1428fs 1.000 NULL pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 137 0 0 81 25 23.5849 SPDYA 0 genome.wustl.edu 37 2 29052084 29052084 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 29052084 29052084 A - DEL SPDYA ENST00000334056 human ensembl 74_37 +1 known frame_shift_del c.451 p.N152fs 1.000 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYA HGNC ENSG00000163806 48 0 0 44 17 27.8689 BIRC6 0 genome.wustl.edu 37 2 32750591 32750591 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 32750591 32750591 G - DEL BIRC6 ENST00000421745 human ensembl 74_37 +1 known frame_shift_del c.11816 p.R3941fs 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 84 0 0 53 7 11.6667 TMEM178A 0 genome.wustl.edu 37 2 39893219 39893219 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 39893219 39893219 C - DEL TMEM178A ENST00000281961 human ensembl 74_37 +1 known frame_shift_del c.105 p.R37fs 1.000 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 16 0 0 14 2 12.5 COX7A2L 0 genome.wustl.edu 37 2 42578275 42578275 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 42578275 42578275 A - DEL COX7A2L ENST00000482463 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COX7A2L HGNC ENSG00000115944 15 0 0 4 8 66.6667 RHOQ 0 genome.wustl.edu 37 2 46808174 46808174 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 46808174 46808174 A - DEL RHOQ ENST00000238738 human ensembl 74_37 +1 known frame_shift_del c.570 p.R193fs 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOQ HGNC ENSG00000119729 73 0 0 58 21 26.5823 FOXN2 0 genome.wustl.edu 37 2 48602092 48602092 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 48602092 48602092 A - DEL FOXN2 ENST00000340553 human ensembl 74_37 +1 known frame_shift_del c.806 p.K271fs 0.981 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 48 0 0 55 11 16.6667 SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 74_37 +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 55 0 0 47 9 16.0714 ZNF638 0 genome.wustl.edu 37 2 71660496 71660496 + RNA DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 71660496 71660496 C - DEL ZNF638 ENST00000460310 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors ZNF638 HGNC ENSG00000075292 19 0 0 19 6 24 WBP1 0 genome.wustl.edu 37 2 74687542 74687543 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 74687542 74687543 - C INS WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_ins c.544_545 p.H185fs 0.963:0.962 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 166 0 0 149 21 12.3529 WBP1 0 genome.wustl.edu 37 2 74687550 74687550 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 74687550 74687550 T - DEL WBP1 ENST00000233615 human ensembl 74_37 +1 known frame_shift_del c.552 p.H185fs 0.970 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 163 1 0.609756 136 31 18.5629 HTRA2 0 genome.wustl.edu 37 2 74757473 74757473 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 74757473 74757473 G - DEL HTRA2 ENST00000258080 human ensembl 74_37 +1 known frame_shift_del c.340 p.A116fs 0.979 NULL pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 24 0 0 16 5 23.8095 TMEM131 0 genome.wustl.edu 37 2 98409017 98409017 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 98409017 98409017 G - DEL TMEM131 ENST00000186436 human ensembl 74_37 -1 known frame_shift_del c.3976 p.L1326fs 0.013 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 22 0 0 23 8 25.8065 EIF5B 0 genome.wustl.edu 37 2 99976805 99976805 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 99976805 99976805 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.142 p.K50fs 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 28 0 0 14 9 39.1304 EIF5B 0 genome.wustl.edu 37 2 99977878 99977878 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 2 99977878 99977878 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.514 p.I174fs 0.920 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 60 0 0 42 22 34.375 ISM1 0 genome.wustl.edu 37 20 13260475 13260475 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 13260475 13260475 C - DEL ISM1 ENST00000262487 human ensembl 74_37 +1 known frame_shift_del c.573 p.R194fs 1.000 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 76 0 0 59 17 22.3684 ESF1 0 genome.wustl.edu 37 20 13763492 13763492 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 13763492 13763492 T - DEL ESF1 ENST00000202816 human ensembl 74_37 -1 known frame_shift_del c.295 p.T99fs 0.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 49 0 0 32 8 20 DEFB124 0 genome.wustl.edu 37 20 30060721 30060722 + RNA DEL CA CA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 30060721 30060722 CA - DEL DEFB124 ENST00000481595 human ensembl 74_37 -1 known rna NULL NULL 0.435:0.465 - - - no_errors DEFB124 HGNC ENSG00000180383 27 0 0 16 8 33.3333 HM13 0 genome.wustl.edu 37 20 30142485 30142487 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 30142485 30142487 AAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155 - - - no_errors HM13 HGNC ENSG00000101294 28 0 0 13 12 48 PLAGL2 0 genome.wustl.edu 37 20 30789952 30789952 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 30789952 30789952 G - DEL PLAGL2 ENST00000246229 human ensembl 74_37 -1 known frame_shift_del c.30 p.W11fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 80 0 0 52 12 18.75 RBL1 0 genome.wustl.edu 37 20 35663913 35663914 + Splice_Site INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 35663913 35663914 - A INS RBL1 ENST00000373664 human ensembl 74_37 -1 known splice_site_ins c.1904-3_1904-2 e15-2 1.000:0.989 - - - no_errors RBL1 HGNC ENSG00000080839 27 0 0 19 5 20.8333 KIAA1755 0 genome.wustl.edu 37 20 36841554 36841555 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 36841554 36841555 - G INS KIAA1755 ENST00000279024 human ensembl 74_37 -1 known frame_shift_ins c.3493_3492 p.R1164fs 0.065:0.069 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 86 0 0 59 14 19.1781 SNX21 0 genome.wustl.edu 37 20 44469004 44469004 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 44469004 44469004 A - DEL SNX21 ENST00000465997 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNX21 HGNC ENSG00000124104 40 0 0 18 9 33.3333 ZNF334 0 genome.wustl.edu 37 20 45130769 45130769 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 45130769 45130769 T - DEL ZNF334 ENST00000347606 human ensembl 74_37 -1 known frame_shift_del c.1209 p.K403fs 0.999 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 ZNF334 HGNC ENSG00000198185 149 0 0 114 29 20.2797 SALL4 0 genome.wustl.edu 37 20 50400983 50400983 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 50400983 50400983 C - DEL SALL4 ENST00000217086 human ensembl 74_37 -1 known frame_shift_del c.2983 p.V995fs 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 110 0 0 65 17 20.7317 PMEPA1 0 genome.wustl.edu 37 20 56227349 56227349 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 20 56227349 56227349 G - DEL PMEPA1 ENST00000341744 human ensembl 74_37 -1 known frame_shift_del c.624 p.S209fs 0.979 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 62 0 0 55 8 12.6984 LTN1 0 genome.wustl.edu 37 21 30358520 30358521 + Frame_Shift_Ins INS - - TC TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 30358520 30358521 - TC INS LTN1 ENST00000389194 human ensembl 74_37 -1 known frame_shift_ins c.423_422 p.D141fs 0.997:1.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 34 0 0 38 6 13.6364 SCAF4 0 genome.wustl.edu 37 21 33063149 33063149 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 33063149 33063149 A - DEL SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_del c.1846 p.C616fs 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 182 0 0 160 34 17.5258 FLJ45139 0 genome.wustl.edu 37 21 40250362 40250362 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 40250362 40250362 A - DEL FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 14 0 0 7 4 36.3636 PDE9A 0 genome.wustl.edu 37 21 44195538 44195540 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 44195538 44195540 AAA - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors PDE9A HGNC ENSG00000160191 17 0 0 10 7 41.1765 NDUFV3 0 genome.wustl.edu 37 21 44324361 44324361 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 21 44324361 44324361 A - DEL NDUFV3 ENST00000354250 human ensembl 74_37 +1 known frame_shift_del c.1239 p.D415fs 0.000 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 16 0 0 20 5 20 CCT8L2 0 genome.wustl.edu 37 22 17071786 17071787 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 17071786 17071787 - T INS CCT8L2 ENST00000359963 human ensembl 74_37 -1 known frame_shift_ins c.1655_1654 p.I552fs 0.001:0.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 100 0 0 85 24 22.0183 CECR1 0 genome.wustl.edu 37 22 17662813 17662814 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 17662813 17662814 - A INS CECR1 ENST00000262607 human ensembl 74_37 -1 known frame_shift_ins c.1339_1338 p.G446fs 1.000:1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 77 0 0 67 10 12.987 MICAL3 0 genome.wustl.edu 37 22 18367052 18367052 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 18367052 18367052 G - DEL MICAL3 ENST00000207726 human ensembl 74_37 -1 known frame_shift_del c.2314 p.R772fs 0.998 NULL 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 32 0 0 27 10 27.027 HIC2 0 genome.wustl.edu 37 22 21800078 21800078 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 21800078 21800078 G - DEL HIC2 ENST00000407464 human ensembl 74_37 +1 known frame_shift_del c.894 p.G300fs 0.987 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 62 0 0 61 9 12.8571 HIC2 0 genome.wustl.edu 37 22 21800429 21800429 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 21800429 21800429 G - DEL HIC2 ENST00000407464 human ensembl 74_37 +1 known frame_shift_del c.1245 p.G417fs 0.999 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 77 0 0 57 22 27.8481 BMS1P20 0 genome.wustl.edu 37 22 22661173 22661174 + RNA INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 22661173 22661174 - C INS BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.833:0.876 - - - no_errors BMS1P20 HGNC ENSG00000236850 44 0 0 35 7 16.6667 SEZ6L 0 genome.wustl.edu 37 22 26688972 26688972 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 26688972 26688972 C - DEL SEZ6L ENST00000248933 human ensembl 74_37 +1 known frame_shift_del c.695 p.Q234fs 0.001 NULL 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 SEZ6L HGNC ENSG00000100095 95 0 0 62 17 21.519 OSBP2 0 genome.wustl.edu 37 22 31289928 31289930 + In_Frame_Del DEL AGC AGC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 31289928 31289930 AGC - DEL OSBP2 ENST00000332585 human ensembl 74_37 +1 known in_frame_del c.2315_2317 p.Q773in_frame_del 1.000:1.000:1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 16 0 0 8 4 33.3333 RNF185 0 genome.wustl.edu 37 22 31583131 31583132 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 31583131 31583132 - G INS RNF185 ENST00000326132 human ensembl 74_37 +1 known frame_shift_ins c.51_52 p.P19fs 0.959:1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF185 HGNC ENSG00000138942 172 0 0 100 30 23.0769 C22orf24 0 genome.wustl.edu 37 22 32334105 32334106 + Frame_Shift_Del DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 32334105 32334106 AA - DEL C22orf24 ENST00000543051 human ensembl 74_37 -1 known frame_shift_del c.149_148 p.F50fs 0.000:0.000 NULL NULL - no_errors C22orf24 HGNC ENSG00000128254 148 0 0 152 49 24.3781 ENSG00000272582 0 genome.wustl.edu 37 22 38347367 38347367 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 38347367 38347367 T - DEL ENSG00000272582 ENST00000609976 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1039K5.17 Clone_based_vega_gene ENSG00000272582 54 0 0 39 11 22 MIEF1 0 genome.wustl.edu 37 22 39908332 39908335 + Frame_Shift_Del DEL CTTA CTTA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CTTA CTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 39908332 39908335 CTTA - DEL MIEF1 ENST00000325301 human ensembl 74_37 +1 known frame_shift_del c.418_421 p.Y142fs 0.998:0.990:0.796:0.801 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 82 0 0 58 12 17.1429 XRCC6 0 genome.wustl.edu 37 22 42024155 42024155 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 42024155 42024155 T - DEL XRCC6 ENST00000359308 human ensembl 74_37 +1 known frame_shift_del c.116 p.L41fs 1.000 pirsf_Ku70,pfam_Ku_N,tigrfam_Ku70 pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 60 0 0 68 17 20 RRP7A 0 genome.wustl.edu 37 22 42912035 42912035 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 42912035 42912035 A - DEL RRP7A ENST00000323013 human ensembl 74_37 -1 known frame_shift_del c.324 p.H109fs 0.017 NULL NULL - no_errors RRP7A HGNC ENSG00000189306 67 0 0 47 16 25.3968 EFCAB6 0 genome.wustl.edu 37 22 43924634 43924634 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 43924634 43924634 T - DEL EFCAB6 ENST00000461800 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EFCAB6 HGNC ENSG00000186976 38 0 0 16 5 23.8095 PNPLA5 0 genome.wustl.edu 37 22 44285694 44285694 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 44285694 44285694 G - DEL PNPLA5 ENST00000216177 human ensembl 74_37 -1 known frame_shift_del c.477 p.E160fs 0.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 39 0 0 16 7 30.4348 SAMM50 0 genome.wustl.edu 37 22 44392209 44392209 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 44392209 44392209 T - DEL SAMM50 ENST00000493621 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAMM50 HGNC ENSG00000100347 667 0 0 509 80 13.5823 SBF1 0 genome.wustl.edu 37 22 50898756 50898756 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 50898756 50898756 G - DEL SBF1 ENST00000380817 human ensembl 74_37 -1 known frame_shift_del c.3228 p.S1077fs 0.039 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 90 0 0 56 14 20 RPL23AP82 0 genome.wustl.edu 37 22 51237600 51237600 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 22 51237600 51237600 A - DEL RPL23AP82 ENST00000462238 human ensembl 74_37 +1 known rna NULL NULL 0.477 - - - no_errors AC002055.4 Clone_based_vega_gene ENSG00000184319 88 0 0 110 6 5.17241 MORC1 0 genome.wustl.edu 37 3 108818240 108818240 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 108818240 108818240 A - DEL MORC1 ENST00000232603 human ensembl 74_37 -1 known frame_shift_del c.388 p.S130fs 1.000 superfamily_HATPase_ATP-bd pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 55 0 0 55 8 12.6984 SLC9C1 0 genome.wustl.edu 37 3 112005610 112005610 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 112005610 112005610 A - DEL SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_del c.29 p.F10fs 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 34 0 0 32 7 17.9487 MYLK 0 genome.wustl.edu 37 3 123368043 123368044 + Splice_Site INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 123368043 123368044 - G INS MYLK ENST00000360304 human ensembl 74_37 -1 known splice_site_ins c.4289-3_4289-2 e22-2 0.975:0.100 - - - no_errors MYLK HGNC ENSG00000065534 87 0 0 47 6 11.3208 MYLK 0 genome.wustl.edu 37 3 123376260 123376260 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 123376260 123376260 G - DEL MYLK ENST00000360304 human ensembl 74_37 -1 known frame_shift_del c.4001 p.P1334fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 46 0 0 29 9 23.6842 TF 0 genome.wustl.edu 37 3 133494278 133494278 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 133494278 133494278 A - DEL TF ENST00000402696 human ensembl 74_37 +1 known frame_shift_del c.1689 p.N565fs 0.028 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 149 1 0.666667 87 21 19.4444 NUP210 0 genome.wustl.edu 37 3 13407579 13407579 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 13407579 13407579 G - DEL NUP210 ENST00000254508 human ensembl 74_37 -1 known frame_shift_del c.1799 p.P600fs 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 55 0 0 35 4 10.2564 DZIP1L 0 genome.wustl.edu 37 3 137811279 137811279 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 137811279 137811279 T - DEL DZIP1L ENST00000327532 human ensembl 74_37 -1 known frame_shift_del c.816 p.K272fs 0.005 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 84 0 0 59 17 22.3684 RBP2 0 genome.wustl.edu 37 3 139173633 139173634 + Frame_Shift_Ins INS - - CA TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 139173633 139173634 - CA INS RBP2 ENST00000232217 human ensembl 74_37 -1 known frame_shift_ins c.292_291 p.Q97fs 1.000:1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP2 HGNC ENSG00000114113 139 0 0 113 20 15.0376 XRN1 0 genome.wustl.edu 37 3 142030643 142030643 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 142030643 142030643 T - DEL XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_del c.4831 p.R1611fs 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 72 0 0 51 7 12.069 CHST2 0 genome.wustl.edu 37 3 142840276 142840276 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 142840276 142840276 G - DEL CHST2 ENST00000309575 human ensembl 74_37 +1 known frame_shift_del c.618 p.D208fs 0.071 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 113 0 0 101 19 15.8333 PLSCR1 0 genome.wustl.edu 37 3 146234963 146234963 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 146234963 146234963 A - DEL PLSCR1 ENST00000484560 human ensembl 74_37 -1 putative rna NULL NULL 0.163 - - - no_errors PLSCR1 HGNC ENSG00000188313 38 0 0 36 10 21.7391 CP 0 genome.wustl.edu 37 3 148939579 148939579 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 148939579 148939579 T - DEL CP ENST00000264613 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 0.993 NULL pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 46 0 0 40 11 21.5686 NR2C2 0 genome.wustl.edu 37 3 15084406 15084406 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 15084406 15084406 T - DEL NR2C2 ENST00000323373 human ensembl 74_37 +1 known frame_shift_del c.1739 p.F582fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 59 0 0 37 7 15.9091 EAF1-AS1 0 genome.wustl.edu 37 3 15480599 15480599 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 15480599 15480599 T - DEL EAF1-AS1 ENST00000494875 human ensembl 74_37 -1 known rna NULL NULL 0.925 - - - no_errors EAF1-AS1 HGNC ENSG00000249786 16 0 0 16 8 33.3333 VEPH1 0 genome.wustl.edu 37 3 157081227 157081227 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 157081227 157081227 T - DEL VEPH1 ENST00000362010 human ensembl 74_37 -1 known frame_shift_del c.1661 p.N554fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 155 1 0.641026 120 37 23.5669 BCHE 0 genome.wustl.edu 37 3 165548196 165548196 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 165548196 165548196 T - DEL BCHE ENST00000264381 human ensembl 74_37 -1 known frame_shift_del c.626 p.N209fs 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 105 0 0 89 21 19.0909 SERPINI1 0 genome.wustl.edu 37 3 167507159 167507159 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 167507159 167507159 A - DEL SERPINI1 ENST00000295777 human ensembl 74_37 +1 known frame_shift_del c.243 p.N83fs 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 91 0 0 66 10 13.1579 SEC62 0 genome.wustl.edu 37 3 169700664 169700664 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 169700664 169700664 A - DEL SEC62 ENST00000337002 human ensembl 74_37 +1 known frame_shift_del c.421 p.D144fs 1.000 pfam_Sec62,superfamily_ABC1_TM_dom pfam_Sec62,superfamily_ABC1_TM_dom - no_errors SEC62 HGNC ENSG00000008952 28 0 0 15 5 25 FNDC3B 0 genome.wustl.edu 37 3 172070675 172070676 + Frame_Shift_Del DEL CT CT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 172070675 172070676 CT - DEL FNDC3B ENST00000336824 human ensembl 74_37 +1 known frame_shift_del c.2597_2598 p.V869fs 1.000:0.990 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 89 0 0 75 18 19.3548 LPP 0 genome.wustl.edu 37 3 188327440 188327441 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 188327440 188327441 - G INS LPP ENST00000312675 human ensembl 74_37 +1 known frame_shift_ins c.921_922 p.R309fs 0.996:1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 99 0 0 60 14 18.9189 PIGZ 0 genome.wustl.edu 37 3 196674359 196674360 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 196674359 196674360 - G INS PIGZ ENST00000412723 human ensembl 74_37 -1 known frame_shift_ins c.1409_1408 p.R470fs 0.995:0.997 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 68 0 0 53 8 13.1148 SGOL1 0 genome.wustl.edu 37 3 20216050 20216050 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 20216050 20216050 T - DEL SGOL1 ENST00000263753 human ensembl 74_37 -1 known frame_shift_del c.973 p.M325fs 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 31 0 0 35 12 25.5319 ZNF385D 0 genome.wustl.edu 37 3 21478596 21478597 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 21478596 21478597 - T INS ZNF385D ENST00000281523 human ensembl 74_37 -1 known frame_shift_ins c.539_538 p.S180fs 0.988:0.978 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 119 0 0 116 11 8.66142 TTC21A 0 genome.wustl.edu 37 3 39177852 39177852 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 39177852 39177852 T - DEL TTC21A ENST00000301819 human ensembl 74_37 +1 known frame_shift_del c.2973 p.L993fs 0.999 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 80 0 0 46 25 35.2113 SCAP 0 genome.wustl.edu 37 3 47458613 47458613 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 47458613 47458613 T - DEL SCAP ENST00000265565 human ensembl 74_37 -1 known frame_shift_del c.3055 p.R1019fs 1.000 superfamily_WD40_repeat_dom pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 54 0 0 27 9 25 PLXNB1 0 genome.wustl.edu 37 3 48455317 48455318 + Frame_Shift_Del DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 48455317 48455318 AA - DEL PLXNB1 ENST00000296440 human ensembl 74_37 -1 known frame_shift_del c.4373_4372 p.L1458fs 0.997:0.609 NULL 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 PLXNB1 HGNC ENSG00000164050 47 0 0 25 7 21.875 ATRIP 0 genome.wustl.edu 37 3 48505450 48505451 + In_Frame_Ins INS - - CTG TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 48505450 48505451 - CTG INS ATRIP ENST00000320211 human ensembl 74_37 +1 known in_frame_ins c.1893_1894 p.635in_frame_insL 0.997:0.999 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 221 0 0 129 21 14 COL7A1 0 genome.wustl.edu 37 3 48612878 48612878 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 48612878 48612878 C - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.6074 p.G2025fs 1.000 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 41 0 0 28 4 12.5 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 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 41 0 0 18 15 45.4545 IL17RB 0 genome.wustl.edu 37 3 53890903 53890905 + In_Frame_Del DEL AAG AAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 3 53890903 53890905 AAG - DEL IL17RB ENST00000288167 human ensembl 74_37 +1 known in_frame_del c.562_564 p.K189in_frame_del 0.997:0.997:0.997 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 124 0 0 71 24 25.2632 RRH 0 genome.wustl.edu 37 4 110756540 110756541 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 110756540 110756541 - T INS RRH ENST00000317735 human ensembl 74_37 +1 known frame_shift_ins c.316_317 p.G109fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 79 0 0 59 14 19.1781 LARP7 0 genome.wustl.edu 37 4 113578483 113578483 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 113578483 113578483 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1749 p.*583fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 27 0 0 14 9 39.1304 ANK2 0 genome.wustl.edu 37 4 114274959 114274959 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 114274959 114274959 A - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_del c.5185 p.G1731fs 0.083 NULL 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 ANK2 HGNC ENSG00000145362 356 0 0 237 63 21 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 114823494 114823494 T - DEL ARSJ ENST00000315366 human ensembl 74_37 -1 known frame_shift_del c.1736 p.K579fs 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 40 0 0 31 17 35.4167 SH3D19 0 genome.wustl.edu 37 4 152069114 152069114 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 152069114 152069114 G - DEL SH3D19 ENST00000304527 human ensembl 74_37 -1 known frame_shift_del c.1202 p.P401fs 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 77 0 0 63 14 18.1818 SH3RF1 0 genome.wustl.edu 37 4 170057635 170057635 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 170057635 170057635 T - DEL SH3RF1 ENST00000284637 human ensembl 74_37 -1 known frame_shift_del c.902 p.K301fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 125 0 0 112 24 17.6471 SORBS2 0 genome.wustl.edu 37 4 186544879 186544879 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 186544879 186544879 G - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.1692 p.A565fs 0.002 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 100 0 0 65 14 17.7215 HSP90AA4P 0 genome.wustl.edu 37 4 190395839 190395839 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 190395839 190395839 A - DEL HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 21 0 0 11 10 47.619 FAM193A 0 genome.wustl.edu 37 4 2698177 2698177 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 2698177 2698177 A - DEL FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_del c.2491 p.M833fs 0.997 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 84 0 0 65 13 16.6667 ADD1 0 genome.wustl.edu 37 4 2930344 2930344 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 2930344 2930344 A - DEL ADD1 ENST00000538860 human ensembl 74_37 +1 known rna NULL NULL 0.624 - - - no_errors ADD1 HGNC ENSG00000087274 20 0 0 20 6 23.0769 GRK4 0 genome.wustl.edu 37 4 3040280 3040282 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 3040280 3040282 AAA - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003:0.005 - - - no_errors GRK4 HGNC ENSG00000125388 38 0 0 27 12 30.7692 KLF3 0 genome.wustl.edu 37 4 38690460 38690460 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 38690460 38690460 A - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.312 p.K106fs 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 117 0 0 69 35 33.6538 SLC30A9 0 genome.wustl.edu 37 4 42041027 42041027 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 42041027 42041027 T - DEL SLC30A9 ENST00000264451 human ensembl 74_37 +1 known frame_shift_del c.694 p.F233fs 1.000 NULL pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 101 0 0 86 29 25.2174 ZBTB49 0 genome.wustl.edu 37 4 4304473 4304473 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 4304473 4304473 A - DEL ZBTB49 ENST00000337872 human ensembl 74_37 +1 known frame_shift_del c.910 p.K305fs 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 ZBTB49 HGNC ENSG00000168826 94 0 0 60 22 26.8293 AASDH 0 genome.wustl.edu 37 4 57220269 57220271 + In_Frame_Del DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 57220269 57220271 AAA - DEL AASDH ENST00000205214 human ensembl 74_37 -1 known in_frame_del c.1319_1317 p.F439in_frame_del 1.000:0.990:0.995 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 70 0 0 47 15 24.1935 AASDH 0 genome.wustl.edu 37 4 57248652 57248652 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 57248652 57248652 T - DEL AASDH ENST00000205214 human ensembl 74_37 -1 known frame_shift_del c.342 p.K114fs 0.960 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 20 0 0 19 4 17.3913 CENPC 0 genome.wustl.edu 37 4 68355753 68355753 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 68355753 68355753 A - DEL CENPC ENST00000273853 human ensembl 74_37 -1 known frame_shift_del c.2602 p.S868fs 1.000 pfam_Mif2/CENP-C_cupin,superfamily_RmlC_Cupin pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 25 0 0 21 4 16 UGT2A3 0 genome.wustl.edu 37 4 69817137 69817137 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 69817137 69817137 A - DEL UGT2A3 ENST00000251566 human ensembl 74_37 -1 known frame_shift_del c.342 p.F114fs 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 52 0 0 61 11 15.2778 UGT2A2 0 genome.wustl.edu 37 4 70504697 70504697 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 70504697 70504697 T - DEL UGT2A2 ENST00000457664 human ensembl 74_37 -1 known frame_shift_del c.662 p.N221fs 0.997 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A2 HGNC ENSG00000271271 31 0 0 13 4 23.5294 MTHFD2L 0 genome.wustl.edu 37 4 75167509 75167509 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 75167509 75167509 A - DEL MTHFD2L ENST00000395759 human ensembl 74_37 +1 known frame_shift_del c.1027 p.I345fs 0.013 NULL pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 50 0 0 45 11 19.6429 LOC101930019 0 genome.wustl.edu 37 4 758765 758765 + RNA DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 758765 758765 C - DEL LOC101930019 ENST00000454037 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors AC139887.4 Clone_based_vega_gene ENSG00000233799 37 0 0 28 8 22.2222 C4orf26 0 genome.wustl.edu 37 4 76489680 76489680 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 76489680 76489680 A - DEL C4orf26 ENST00000435974 human ensembl 74_37 +1 putative frame_shift_del c.468 p.S159fs 0.001 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 103 1 0.961538 83 17 17 C4orf22 0 genome.wustl.edu 37 4 81791254 81791254 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 81791254 81791254 A - DEL C4orf22 ENST00000508675 human ensembl 74_37 +1 known frame_shift_del c.492 p.R167fs 0.769 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 87 0 0 79 17 17.7083 HNRNPD 0 genome.wustl.edu 37 4 83276431 83276431 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 83276431 83276431 A - DEL HNRNPD ENST00000508119 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HNRNPD HGNC ENSG00000138668 27 0 0 21 6 22.2222 SEC31A 0 genome.wustl.edu 37 4 83788110 83788110 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 83788110 83788110 A - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1048 p.S350fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 77 0 0 92 13 12.381 PTPN13 0 genome.wustl.edu 37 4 87622607 87622607 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 4 87622607 87622607 A - DEL PTPN13 ENST00000436978 human ensembl 74_37 +1 known frame_shift_del c.848 p.K285fs 0.941 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 40 0 0 21 9 30 CEP120 0 genome.wustl.edu 37 5 122713213 122713213 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 122713213 122713213 T - DEL CEP120 ENST00000306467 human ensembl 74_37 -1 known frame_shift_del c.2213 p.K738fs 0.963 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 127 1 0.78125 116 22 15.942 CSNK1G3 0 genome.wustl.edu 37 5 122926182 122926182 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 122926182 122926182 T - DEL CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known frame_shift_del c.920 p.F308fs 1.000 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_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G3 HGNC ENSG00000151292 76 0 0 70 14 16.6667 ZNF608 0 genome.wustl.edu 37 5 123984684 123984684 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 123984684 123984684 C - DEL ZNF608 ENST00000306315 human ensembl 74_37 -1 known frame_shift_del c.1393 p.A465fs 0.918 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 178 0 0 99 19 16.1017 PHAX 0 genome.wustl.edu 37 5 125939711 125939712 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 125939711 125939712 - A INS PHAX ENST00000297540 human ensembl 74_37 +1 known frame_shift_ins c.546_547 p.M184fs 0.972:1.000 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 56 0 0 50 17 25.3731 HSPA4 0 genome.wustl.edu 37 5 132439995 132439995 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 132439995 132439995 A - DEL HSPA4 ENST00000304858 human ensembl 74_37 +1 known frame_shift_del c.2390 p.N799fs 0.999 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC ENSG00000170606 64 0 0 45 14 23.7288 FSTL4 0 genome.wustl.edu 37 5 132534947 132534947 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 132534947 132534947 C - DEL FSTL4 ENST00000265342 human ensembl 74_37 -1 known frame_shift_del c.2369 p.G790fs 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 45 0 0 37 8 17.7778 CATSPER3 0 genome.wustl.edu 37 5 134305723 134305723 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 134305723 134305723 T - DEL CATSPER3 ENST00000282611 human ensembl 74_37 +1 known frame_shift_del c.193 p.F66fs 0.080 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 147 0 0 110 33 23.0769 CTNNA1 0 genome.wustl.edu 37 5 138260955 138260955 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 138260955 138260955 T - DEL CTNNA1 ENST00000302763 human ensembl 74_37 +1 known frame_shift_del c.1758 p.F587fs 0.844 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 64 0 0 49 13 20.9677 PCDHA9 0 genome.wustl.edu 37 5 140230509 140230509 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140230509 140230509 T - DEL PCDHA9 ENST00000378122 human ensembl 74_37 +1 known frame_shift_del c.2429 p.L813fs 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 96 0 0 74 25 25.2525 PCDHB3 0 genome.wustl.edu 37 5 140480418 140480418 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140480418 140480418 G - DEL PCDHB3 ENST00000231130 human ensembl 74_37 +1 known frame_shift_del c.185 p.A64fs 0.071 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 113 0 0 83 14 14.433 PCDHB4 0 genome.wustl.edu 37 5 140502487 140502487 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140502487 140502487 A - DEL PCDHB4 ENST00000194152 human ensembl 74_37 +1 known frame_shift_del c.907 p.K305fs 0.078 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 PCDHB4 HGNC ENSG00000081818 164 0 0 138 35 20.2312 PCDHB6 0 genome.wustl.edu 37 5 140530600 140530600 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140530600 140530600 C - DEL PCDHB6 ENST00000231136 human ensembl 74_37 +1 known frame_shift_del c.762 p.L256fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 67 0 0 46 12 20.6897 PCDHB12 0 genome.wustl.edu 37 5 140588576 140588576 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140588576 140588576 T - DEL PCDHB12 ENST00000239450 human ensembl 74_37 +1 known frame_shift_del c.97 p.L34fs 0.873 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 126 0 0 82 14 14.5833 PCDHGB7 0 genome.wustl.edu 37 5 140798891 140798891 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140798891 140798891 T - DEL PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known frame_shift_del c.1465 p.Y489fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 120 0 0 69 19 21.5909 PCDHGC3 0 genome.wustl.edu 37 5 140857742 140857742 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 140857742 140857742 A - DEL PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known frame_shift_del c.2059 p.N689fs 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 277 0 0 184 65 26.1044 ARAP3 0 genome.wustl.edu 37 5 141059689 141059689 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 141059689 141059689 C - DEL ARAP3 ENST00000239440 human ensembl 74_37 -1 known frame_shift_del c.365 p.G122fs 0.000 NULL pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 178 0 0 133 27 16.875 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 93 0 0 87 7 7.44681 SPINK5 0 genome.wustl.edu 37 5 147499875 147499875 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 147499875 147499875 A - DEL SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_del c.2459 p.K823fs 0.998 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 25 0 0 10 8 44.4444 PPARGC1B 0 genome.wustl.edu 37 5 149206386 149206386 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 149206386 149206386 C - DEL PPARGC1B ENST00000309241 human ensembl 74_37 +1 known frame_shift_del c.403 p.S137fs 0.982 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 138 0 0 92 18 16.3636 LARP1 0 genome.wustl.edu 37 5 154173390 154173390 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 154173390 154173390 C - DEL LARP1 ENST00000336314 human ensembl 74_37 +1 known frame_shift_del c.668 p.T226fs 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 311 1 0.320513 189 42 18.1818 NSD1 0 genome.wustl.edu 37 5 176700715 176700715 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 176700715 176700715 A - DEL NSD1 ENST00000439151 human ensembl 74_37 +1 known frame_shift_del c.5552 p.E1853fs 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 129 0 0 63 15 19.2308 ZNF354A 0 genome.wustl.edu 37 5 178140425 178140425 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 178140425 178140425 T - DEL ZNF354A ENST00000335815 human ensembl 74_37 -1 known frame_shift_del c.454 p.I152fs 0.326 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354A HGNC ENSG00000169131 165 0 0 134 31 18.7879 FLT4 0 genome.wustl.edu 37 5 180055897 180055897 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 180055897 180055897 G - DEL FLT4 ENST00000261937 human ensembl 74_37 -1 known frame_shift_del c.1088 p.P363fs 0.363 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 40 0 0 32 7 17.9487 PDZD2 0 genome.wustl.edu 37 5 32087429 32087430 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 32087429 32087430 - G INS PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_ins c.3875_3876 p.E1294fs 0.000:0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 114 0 0 87 15 14.7059 PDZD2 0 genome.wustl.edu 37 5 32101067 32101070 + Splice_Site DEL TAAG TAAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 TAAG TAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 32101067 32101070 TAAG - DEL PDZD2 ENST00000397559 human ensembl 74_37 +1 known splice_site_del c.NULL NULL 0.001:0.002:0.002:0.001 - - - no_errors PDZD2 HGNC ENSG00000133401 41 0 0 42 12 22.2222 ZFR 0 genome.wustl.edu 37 5 32355893 32355893 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 32355893 32355893 T - DEL ZFR ENST00000265069 human ensembl 74_37 -1 known frame_shift_del c.3198 p.D1067fs 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 107 0 0 121 30 19.8675 DNAJC21 0 genome.wustl.edu 37 5 34949704 34949704 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 34949704 34949704 A - DEL DNAJC21 ENST00000382021 human ensembl 74_37 +1 known frame_shift_del c.1242 p.K416fs 0.000 NULL pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC21 HGNC ENSG00000168724 15 0 0 10 5 33.3333 IL7R 0 genome.wustl.edu 37 5 35867541 35867541 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 35867541 35867541 A - DEL IL7R ENST00000303115 human ensembl 74_37 +1 known frame_shift_del c.355 p.I121fs 0.165 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 63 0 0 69 14 16.8675 NIPBL 0 genome.wustl.edu 37 5 37063924 37063925 + In_Frame_Ins INS - - GAA TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 37063924 37063925 - GAA INS NIPBL ENST00000282516 human ensembl 74_37 +1 known in_frame_ins c.7893_7894 p.2635in_frame_insE 1.000:1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 30 0 0 38 6 13.6364 HCN1 0 genome.wustl.edu 37 5 45262402 45262402 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 45262402 45262402 T - DEL HCN1 ENST00000303230 human ensembl 74_37 -1 known frame_shift_del c.2294 p.N765fs 0.211 NULL 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 62 0 0 44 7 13.7255 EMB 0 genome.wustl.edu 37 5 49724051 49724051 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 49724051 49724051 A - DEL EMB ENST00000303221 human ensembl 74_37 -1 known frame_shift_del c.123 p.F41fs 0.476 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors EMB HGNC ENSG00000170571 53 0 0 41 7 14.5833 ITGA1 0 genome.wustl.edu 37 5 52183690 52183690 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 52183690 52183690 A - DEL ITGA1 ENST00000282588 human ensembl 74_37 +1 known frame_shift_del c.817 p.V275fs 0.993 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 94 0 0 67 7 9.45946 GPX8 0 genome.wustl.edu 37 5 54460113 54460113 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 54460113 54460113 T - DEL GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX8 HGNC ENSG00000164294 21 0 0 11 9 45 IL6ST 0 genome.wustl.edu 37 5 55247869 55247869 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 55247869 55247869 T - DEL IL6ST ENST00000336909 human ensembl 74_37 -1 known frame_shift_del c.1587 p.V530fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 47 0 0 41 8 16.3265 PAPD7 0 genome.wustl.edu 37 5 6755008 6755008 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 6755008 6755008 A - DEL PAPD7 ENST00000230859 human ensembl 74_37 +1 known frame_shift_del c.1579 p.K528fs 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 60 0 0 43 8 15.6863 PTCD2 0 genome.wustl.edu 37 5 71648518 71648518 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 71648518 71648518 A - DEL PTCD2 ENST00000308077 human ensembl 74_37 +1 known frame_shift_del c.879 p.N295fs 0.005 NULL pfam_Ribosomal_S27_mit,tigrfam_Pentatricopeptide_repeat - no_errors PTCD2 HGNC ENSG00000049883 33 0 0 35 10 22.2222 VCAN 0 genome.wustl.edu 37 5 82833368 82833368 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 82833368 82833368 A - DEL VCAN ENST00000265077 human ensembl 74_37 +1 known frame_shift_del c.4546 p.A1519fs 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 58 0 0 48 14 22.5806 RHOBTB3 0 genome.wustl.edu 37 5 95067839 95067839 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 5 95067839 95067839 T - DEL RHOBTB3 ENST00000506817 human ensembl 74_37 +1 putative frame_shift_del c.279 p.S96fs 0.013 NULL NULL - no_errors RHOBTB3 HGNC ENSG00000164292 22 0 0 10 4 28.5714 CCNC 0 genome.wustl.edu 37 6 100006296 100006298 + In_Frame_Del DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 100006296 100006298 AAA - DEL CCNC ENST00000482541 human ensembl 74_37 -1 putative in_frame_del c.423_421 p.F141in_frame_del 0.007:0.028:0.058 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 37 0 0 21 6 22.2222 TFAP2A 0 genome.wustl.edu 37 6 10402829 10402829 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 10402829 10402829 T - DEL TFAP2A ENST00000379604 human ensembl 74_37 -1 known frame_shift_del c.779 p.N260fs 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 55 0 0 44 10 18.5185 SLC22A16 0 genome.wustl.edu 37 6 110763711 110763711 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 110763711 110763711 T - DEL SLC22A16 ENST00000368919 human ensembl 74_37 -1 known frame_shift_del c.919 p.I307fs 0.054 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 120 1 0.826446 70 13 15.6627 REV3L 0 genome.wustl.edu 37 6 111656711 111656711 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 111656711 111656711 A - DEL REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_del c.7641 p.F2547fs 1.000 superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 135 0 0 130 29 18.239 REV3L 0 genome.wustl.edu 37 6 111672996 111672997 + Splice_Site INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 111672996 111672997 - A INS REV3L ENST00000358835 human ensembl 74_37 -1 known splice_site_ins c.7185-3_7185-2 e19-2 1.000:0.976 - - - no_errors REV3L HGNC ENSG00000009413 40 0 0 43 10 18.8679 LAMA4 0 genome.wustl.edu 37 6 112575076 112575077 + Frame_Shift_Del DEL GA GA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 112575076 112575077 GA - DEL LAMA4 ENST00000368638 human ensembl 74_37 -1 known frame_shift_del c.277_276 p.P93fs 0.000:0.000 NULL NULL - no_errors LAMA4 HGNC ENSG00000112769 41 0 0 29 8 21.6216 FAM26E 0 genome.wustl.edu 37 6 116836953 116836954 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 116836953 116836954 - T INS FAM26E ENST00000368599 human ensembl 74_37 +1 known frame_shift_ins c.731_732 p.E247fs 1.000:1.000 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 115 0 0 84 33 28.2051 ADTRP 0 genome.wustl.edu 37 6 11714640 11714643 + RNA DEL AAAA AAAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 11714640 11714643 AAAA - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001:0.000 - - - no_errors ADTRP HGNC ENSG00000111863 26 0 0 30 10 25 PTPRK 0 genome.wustl.edu 37 6 128326373 128326374 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 128326373 128326374 - T INS PTPRK ENST00000368227 human ensembl 74_37 -1 known frame_shift_ins c.2350_2349 p.R783fs 1.000:0.996 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 46 0 0 32 9 21.9512 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 70 0 0 63 10 13.6986 BCLAF1 0 genome.wustl.edu 37 6 136597451 136597453 + In_Frame_Del DEL CTC CTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 136597451 136597453 CTC - DEL BCLAF1 ENST00000531224 human ensembl 74_37 -1 known in_frame_del c.1212_1210 p.E404in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 466 0 0 499 45 8.27206 PHACTR2 0 genome.wustl.edu 37 6 144086746 144086746 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 144086746 144086746 C - DEL PHACTR2 ENST00000440869 human ensembl 74_37 +1 known frame_shift_del c.1043 p.P350fs 0.009 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 90 0 0 67 11 14.1026 GRM1 0 genome.wustl.edu 37 6 146350672 146350672 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 146350672 146350672 T - DEL GRM1 ENST00000282753 human ensembl 74_37 +1 known frame_shift_del c.19 p.F9fs 0.003 prints_GPCR_3_mtglu_rcpt_1 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 260 0 0 141 44 23.7838 STXBP5 0 genome.wustl.edu 37 6 147648266 147648266 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 147648266 147648266 T - DEL STXBP5 ENST00000321680 human ensembl 74_37 +1 known frame_shift_del c.1934 p.F646fs 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 74 0 0 55 12 17.9104 SYNE1 0 genome.wustl.edu 37 6 152640152 152640153 + Splice_Site INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 152640152 152640153 - A INS SYNE1 ENST00000265368 human ensembl 74_37 -1 known splice_site_ins c.16237-3_16237-2 e83-2 1.000:0.987 - - - no_errors SYNE1 HGNC ENSG00000131018 32 0 0 24 5 17.2414 MTRF1L 0 genome.wustl.edu 37 6 153319770 153319770 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 153319770 153319770 A - DEL MTRF1L ENST00000485283 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors MTRF1L HGNC ENSG00000112031 24 0 0 19 5 20.8333 JARID2 0 genome.wustl.edu 37 6 15496635 15496636 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 15496635 15496636 - G INS JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.A395fs 1.000:1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 143 0 0 122 24 16.4384 WTAP 0 genome.wustl.edu 37 6 160157395 160157395 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 160157395 160157395 A - DEL WTAP ENST00000494513 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WTAP HGNC ENSG00000146457 40 0 0 33 11 25 T 0 genome.wustl.edu 37 6 166580151 166580151 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 166580151 166580151 C - DEL T ENST00000296946 human ensembl 74_37 -1 known frame_shift_del c.400 p.A134fs 0.878 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 125 0 0 102 23 18.4 MLLT4 0 genome.wustl.edu 37 6 168315898 168315899 + Frame_Shift_Del DEL AG AG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 168315898 168315899 AG - DEL MLLT4 ENST00000366806 human ensembl 74_37 +1 known frame_shift_del c.2329_2330 p.R777fs 0.973:0.982 pfscan_Dilute pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 121 0 0 74 10 11.9048 DCDC2 0 genome.wustl.edu 37 6 24301971 24301971 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 24301971 24301971 T - DEL DCDC2 ENST00000378454 human ensembl 74_37 -1 known frame_shift_del c.529 p.I177fs 0.971 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC ENSG00000146038 264 0 0 219 58 20.9386 HLA-A 0 genome.wustl.edu 37 6 29912081 29912082 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 29912081 29912082 - G INS HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_ins c.802_803 p.A269fs 1.000:1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 107 0 0 93 6 6.06061 TRIM31 0 genome.wustl.edu 37 6 30078384 30078386 + In_Frame_Del DEL CTC CTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 30078384 30078386 CTC - DEL TRIM31 ENST00000376734 human ensembl 74_37 -1 known in_frame_del c.585_583 p.E195in_frame_del 0.007:0.011:0.003 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM31 HGNC ENSG00000204616 124 0 0 103 18 14.876 VARS 0 genome.wustl.edu 37 6 31750526 31750527 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 31750526 31750527 - C INS VARS ENST00000375663 human ensembl 74_37 -1 known frame_shift_ins c.1859_1858 p.A620fs 1.000:1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 44 0 0 33 9 21.4286 LSM2 0 genome.wustl.edu 37 6 31765402 31765402 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 31765402 31765402 A - DEL LSM2 ENST00000470083 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LSM2 HGNC ENSG00000204392 37 0 0 22 6 21.4286 SLC44A4 0 genome.wustl.edu 37 6 31833125 31833125 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 31833125 31833125 T - DEL SLC44A4 ENST00000229729 human ensembl 74_37 -1 known frame_shift_del c.1727 p.N576fs 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 238 1 0.41841 171 48 21.9178 STK19 0 genome.wustl.edu 37 6 31947411 31947411 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 31947411 31947411 T - DEL STK19 ENST00000463823 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors STK19 HGNC ENSG00000204344 38 0 0 24 6 20 EGFL8 0 genome.wustl.edu 37 6 32134319 32134321 + In_Frame_Del DEL ACA ACA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 32134319 32134321 ACA - DEL EGFL8 ENST00000333845 human ensembl 74_37 +1 known in_frame_del c.146_148 p.N50in_frame_del 1.000:1.000:1.000 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000241404 119 0 0 69 19 21.5909 B3GALT4 0 genome.wustl.edu 37 6 33245915 33245916 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 33245915 33245916 - G INS B3GALT4 ENST00000451237 human ensembl 74_37 +1 known frame_shift_ins c.719_720 p.R243fs 0.044:0.052 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 118 0 0 96 19 16.5217 SYNGAP1 0 genome.wustl.edu 37 6 33411684 33411684 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 33411684 33411684 G - DEL SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known frame_shift_del c.3355 p.G1120fs 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 24 0 0 20 3 13.0435 BRPF3 0 genome.wustl.edu 37 6 36168884 36168887 + Frame_Shift_Del DEL CTCC CTCC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CTCC CTCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 36168884 36168887 CTCC - DEL BRPF3 ENST00000357641 human ensembl 74_37 +1 known frame_shift_del c.785_788 p.S264fs 1.000:0.999:1.000:1.000 superfamily_Znf_FYVE_PHD pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 102 0 0 59 19 24.359 TBC1D22B 0 genome.wustl.edu 37 6 37250063 37250063 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 37250063 37250063 C - DEL TBC1D22B ENST00000373491 human ensembl 74_37 +1 known frame_shift_del c.524 p.P177fs 0.996 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 79 0 0 38 11 22.449 FOXP4 0 genome.wustl.edu 37 6 41557781 41557781 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 41557781 41557781 C - DEL FOXP4 ENST00000307972 human ensembl 74_37 +1 known frame_shift_del c.1230 p.P412fs 0.964 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 67 0 0 37 8 17.7778 RUNX2 0 genome.wustl.edu 37 6 45296446 45296446 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 45296446 45296446 A - DEL RUNX2 ENST00000352853 human ensembl 74_37 +1 known frame_shift_del c.187 p.G66fs 0.983 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 74 0 0 60 15 20 RUNX2 0 genome.wustl.edu 37 6 45390355 45390355 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 45390355 45390355 C - DEL RUNX2 ENST00000352853 human ensembl 74_37 +1 known frame_shift_del c.288 p.S99fs 1.000 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 125 0 0 79 9 10.2273 DST 0 genome.wustl.edu 37 6 56434717 56434717 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 56434717 56434717 T - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.13722 p.V4575fs 0.005 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 94 0 0 79 17 17.7083 SLC17A5 0 genome.wustl.edu 37 6 74351590 74351590 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 74351590 74351590 A - DEL SLC17A5 ENST00000355773 human ensembl 74_37 -1 known frame_shift_del c.349 p.Y117fs 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A5 HGNC ENSG00000119899 246 1 0.404858 172 36 17.3077 LCA5 0 genome.wustl.edu 37 6 80228605 80228605 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 80228605 80228605 C - DEL LCA5 ENST00000369846 human ensembl 74_37 -1 known frame_shift_del c.7 p.E3fs 1.000 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 303 0 0 239 66 21.6393 TTK 0 genome.wustl.edu 37 6 80720539 80720539 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 80720539 80720539 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.478 p.S162fs 0.996 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 43 0 0 46 8 14.8148 IBTK 0 genome.wustl.edu 37 6 82891683 82891683 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 82891683 82891683 T - DEL IBTK ENST00000306270 human ensembl 74_37 -1 known frame_shift_del c.3638 p.K1213fs 0.998 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 45 0 0 34 16 32 ZNF292 0 genome.wustl.edu 37 6 87969484 87969484 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 87969484 87969484 A - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.6137 p.S2049fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 12 0 0 8 3 27.2727 C6orf165 0 genome.wustl.edu 37 6 88144700 88144701 + Frame_Shift_Del DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 88144700 88144701 AA - DEL C6orf165 ENST00000369562 human ensembl 74_37 +1 known frame_shift_del c.1423_1424 p.N477fs 1.000:1.000 pfam_DUF3508 pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 78 0 0 59 21 26.25 MAP3K7 0 genome.wustl.edu 37 6 91226170 91226170 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 91226170 91226170 A - DEL MAP3K7 ENST00000479630 human ensembl 74_37 -1 known rna NULL NULL 0.947 - - - no_errors MAP3K7 HGNC ENSG00000135341 50 0 0 39 8 17.0213 POU3F2 0 genome.wustl.edu 37 6 99283463 99283465 + In_Frame_Del DEL GCC GCC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 6 99283463 99283465 GCC - DEL POU3F2 ENST00000328345 human ensembl 74_37 +1 known in_frame_del c.714_716 p.P242in_frame_del 1.000:1.000:0.999 pirsf_Transcription_factor_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 48 0 0 28 10 26.3158 NYAP1 0 genome.wustl.edu 37 7 100085884 100085884 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 100085884 100085884 C - DEL NYAP1 ENST00000423930 human ensembl 74_37 +1 known frame_shift_del c.540 p.P182fs 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 172 0 0 123 25 16.8919 SRRT 0 genome.wustl.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 100479332 100479332 G - DEL SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_del c.304 p.G104fs 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 53 0 0 52 13 20 AP1S1 0 genome.wustl.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 100802404 100802405 - G INS AP1S1 ENST00000337619 human ensembl 74_37 +1 known frame_shift_ins c.356_357 p.D122fs 1.000:1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 60 0 0 36 8 18.1818 MET 0 genome.wustl.edu 37 7 116422111 116422111 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 116422111 116422111 A - DEL MET ENST00000318493 human ensembl 74_37 +1 known frame_shift_del c.3646 p.K1217fs 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 38 0 0 26 5 16.129 SLC13A1 0 genome.wustl.edu 37 7 122809354 122809354 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 122809354 122809354 A - DEL SLC13A1 ENST00000194130 human ensembl 74_37 -1 known frame_shift_del c.401 p.L134fs 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 68 0 0 37 7 15.9091 ZNF212 0 genome.wustl.edu 37 7 148947624 148947624 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 148947624 148947624 G - DEL ZNF212 ENST00000335870 human ensembl 74_37 +1 known frame_shift_del c.399 p.E135fs 0.902 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF212 HGNC ENSG00000170260 236 0 0 173 29 14.3564 GIMAP7 0 genome.wustl.edu 37 7 150217889 150217889 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 150217889 150217889 T - DEL GIMAP7 ENST00000313543 human ensembl 74_37 +1 known frame_shift_del c.827 p.F277fs 0.002 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP7 HGNC ENSG00000179144 47 0 0 37 14 27.451 KCNH2 0 genome.wustl.edu 37 7 150656679 150656679 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 150656679 150656679 G - DEL KCNH2 ENST00000262186 human ensembl 74_37 -1 known frame_shift_del c.453 p.T152fs 0.998 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 109 0 0 88 14 13.7255 ATG9B 0 genome.wustl.edu 37 7 150721484 150721485 + Frame_Shift_Del DEL CC CC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 150721484 150721485 CC - DEL ATG9B ENST00000377974 human ensembl 74_37 -1 known frame_shift_del c.27_26 p.G9fs 0.511:0.721 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 15 0 0 9 3 25 HOXA10 0 genome.wustl.edu 37 7 27213774 27213774 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 27213774 27213774 C - DEL HOXA10 ENST00000283921 human ensembl 74_37 -1 known frame_shift_del c.152 p.G51fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA10 HGNC ENSG00000253293 47 0 0 27 10 27.027 AMZ1 0 genome.wustl.edu 37 7 2748814 2748814 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 2748814 2748814 C - DEL AMZ1 ENST00000312371 human ensembl 74_37 +1 known frame_shift_del c.707 p.L238fs 0.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 23 0 0 16 5 23.8095 VPS41 0 genome.wustl.edu 37 7 38810820 38810820 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 38810820 38810820 T - DEL VPS41 ENST00000310301 human ensembl 74_37 -1 known frame_shift_del c.1163 p.N388fs 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 42 0 0 34 5 12.8205 DBNL 0 genome.wustl.edu 37 7 44097420 44097420 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 44097420 44097420 A - DEL DBNL ENST00000468694 human ensembl 74_37 +1 known frame_shift_del c.514 p.R173fs 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC ENSG00000136279 66 0 0 45 8 15.0943 POLD2 0 genome.wustl.edu 37 7 44155802 44155802 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 44155802 44155802 G - DEL POLD2 ENST00000406581 human ensembl 74_37 -1 known frame_shift_del c.931 p.L311fs 1.000 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - no_errors POLD2 HGNC ENSG00000106628 80 0 0 72 15 17.2414 C7orf57 0 genome.wustl.edu 37 7 48086205 48086205 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 48086205 48086205 A - DEL C7orf57 ENST00000348904 human ensembl 74_37 +1 known frame_shift_del c.499 p.K169fs 1.000 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 23 0 0 17 6 26.087 ABCA13 0 genome.wustl.edu 37 7 48317774 48317774 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 48317774 48317774 T - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.6983 p.S2330fs 0.329 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 18 0 0 7 4 36.3636 CCT6A 0 genome.wustl.edu 37 7 56130880 56130880 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 56130880 56130880 T - DEL CCT6A ENST00000462133 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors CCT6A HGNC ENSG00000146731 27 0 0 16 6 27.2727 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 77423460 77423460 T - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 121 0 0 117 25 17.6056 CROT 0 genome.wustl.edu 37 7 86978480 86978480 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 86978480 86978480 A - DEL CROT ENST00000331536 human ensembl 74_37 +1 known frame_shift_del c.96 p.K34fs 0.795 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 71 0 0 64 11 14.6667 STEAP2 0 genome.wustl.edu 37 7 89856465 89856465 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 89856465 89856465 T - DEL STEAP2 ENST00000287908 human ensembl 74_37 +1 known frame_shift_del c.673 p.F227fs 0.987 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 87 0 0 56 24 30 MTERF 0 genome.wustl.edu 37 7 91509449 91509449 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 91509449 91509449 A - DEL MTERF ENST00000481516 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors MTERF HGNC ENSG00000127989 45 0 0 23 14 37.8378 AKAP9 0 genome.wustl.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 91671392 91671393 AG - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.4986_4987 p.R1666fs 1.000:1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 57 0 0 50 5 9.09091 SAMD9L 0 genome.wustl.edu 37 7 92761060 92761061 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 7 92761060 92761061 - T INS SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_ins c.4225_4224 p.Q1408fs 0.904:0.665 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 226 1 0.440529 192 55 22.2672 FBXO43 0 genome.wustl.edu 37 8 101154029 101154029 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 101154029 101154029 T - DEL FBXO43 ENST00000428847 human ensembl 74_37 -1 known frame_shift_del c.453 p.K151fs 0.006 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 120 0 0 175 28 13.7931 SPAG1 0 genome.wustl.edu 37 8 101253229 101253229 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 101253229 101253229 A - DEL SPAG1 ENST00000251809 human ensembl 74_37 +1 known frame_shift_del c.2760 p.R922fs 0.009 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 43 0 0 75 8 9.63855 NACAP1 0 genome.wustl.edu 37 8 102381882 102381883 + RNA INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 102381882 102381883 - A INS NACAP1 ENST00000419462 human ensembl 74_37 +1 known rna NULL NULL 0.836:0.879 - - - no_errors NACAP1 HGNC ENSG00000228224 28 0 0 26 3 10.3448 NACAP1 0 genome.wustl.edu 37 8 102381883 102381883 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 102381883 102381883 A - DEL NACAP1 ENST00000419462 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors NACAP1 HGNC ENSG00000228224 28 0 0 20 9 31.0345 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 122 0 0 130 47 26.5537 MTMR9 0 genome.wustl.edu 37 8 11162509 11162509 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 11162509 11162509 A - DEL MTMR9 ENST00000221086 human ensembl 74_37 +1 known frame_shift_del c.577 p.N195fs 0.997 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 69 0 0 81 17 17.3469 SLC30A8 0 genome.wustl.edu 37 8 118183307 118183308 + Frame_Shift_Del DEL AG AG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 118183307 118183308 AG - DEL SLC30A8 ENST00000456015 human ensembl 74_37 +1 known frame_shift_del c.864_865 p.E289fs 0.962:0.959 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 122 0 0 166 20 10.7527 MTSS1 0 genome.wustl.edu 37 8 125570145 125570145 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 125570145 125570145 A - DEL MTSS1 ENST00000520094 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors MTSS1 HGNC ENSG00000170873 8 0 0 7 3 30 SLA 0 genome.wustl.edu 37 8 134063100 134063100 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 134063100 134063100 G - DEL SLA ENST00000427060 human ensembl 74_37 -1 known frame_shift_del c.242 p.P81fs 0.999 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 74 0 0 91 11 10.7843 PTK2 0 genome.wustl.edu 37 8 141754889 141754892 + RNA DEL AAAA AAAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 141754889 141754892 AAAA - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005:0.002 - - - no_errors PTK2 HGNC ENSG00000169398 32 0 0 47 6 11.3208 SLC45A4 0 genome.wustl.edu 37 8 142229029 142229031 + In_Frame_Del DEL AAG AAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 142229029 142229031 AAG - DEL SLC45A4 ENST00000517878 human ensembl 74_37 -1 known in_frame_del c.710_708 p.F237in_frame_del 1.000:1.000:1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 111 0 0 144 21 12.7273 MAPK15 0 genome.wustl.edu 37 8 144804319 144804319 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 144804319 144804319 G - DEL MAPK15 ENST00000338033 human ensembl 74_37 +1 known frame_shift_del c.1533 p.G513fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK15 HGNC ENSG00000181085 113 0 0 148 15 9.20245 CYC1 0 genome.wustl.edu 37 8 145150876 145150876 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 145150876 145150876 C - DEL CYC1 ENST00000318911 human ensembl 74_37 +1 known frame_shift_del c.270 p.S93fs 1.000 superfamily_Cyt_c-like_dom pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 107 1 0.925926 124 11 8.14815 VPS28 0 genome.wustl.edu 37 8 145652340 145652341 + RNA INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 145652340 145652341 - G INS VPS28 ENST00000526734 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors VPS28 HGNC ENSG00000160948 27 0 0 22 4 15.3846 ARHGAP39 0 genome.wustl.edu 37 8 145773375 145773375 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 145773375 145773375 G - DEL ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known frame_shift_del c.1095 p.S366fs 0.063 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 21 0 0 27 5 15.625 MTUS1 0 genome.wustl.edu 37 8 17504627 17504628 + RNA DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 17504627 17504628 AA - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 37 0 0 36 11 23.4043 DMTN 0 genome.wustl.edu 37 8 21926552 21926552 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 21926552 21926552 C - DEL DMTN ENST00000265800 human ensembl 74_37 +1 known frame_shift_del c.275 p.P94fs 1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 148 0 0 136 10 6.84932 CCAR2 0 genome.wustl.edu 37 8 22472975 22472975 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 22472975 22472975 C - DEL CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_del c.1243 p.R417fs 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 183 0 0 188 31 14.1553 ENTPD4 0 genome.wustl.edu 37 8 23292044 23292045 + RNA INS - - CA TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 23292044 23292045 - CA INS ENTPD4 ENST00000522913 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC ENSG00000197217 31 0 0 36 4 10 ADAMDEC1 0 genome.wustl.edu 37 8 24257686 24257686 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 24257686 24257686 A - DEL ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 0.044 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 30 0 0 31 8 20.5128 DOCK5 0 genome.wustl.edu 37 8 25257429 25257429 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 25257429 25257429 T - DEL DOCK5 ENST00000276440 human ensembl 74_37 +1 known frame_shift_del c.4707 p.F1571fs 0.166 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 23 0 0 27 6 18.1818 ESCO2 0 genome.wustl.edu 37 8 27645493 27645493 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 27645493 27645493 A - DEL ESCO2 ENST00000305188 human ensembl 74_37 +1 known frame_shift_del c.1105 p.T371fs 0.776 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 73 0 0 126 21 14.2857 NUGGC 0 genome.wustl.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 27888776 27888776 T - DEL NUGGC ENST00000341513 human ensembl 74_37 -1 known frame_shift_del c.1892 p.N631fs 0.005 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 185 0 0 217 33 13.2 UNC5D 0 genome.wustl.edu 37 8 35583979 35583980 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 35583979 35583980 - A INS UNC5D ENST00000404895 human ensembl 74_37 +1 known frame_shift_ins c.1613_1614 p.R539fs 0.742:0.587 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,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 UNC5D HGNC ENSG00000156687 168 0 0 175 32 15.4589 PLAT 0 genome.wustl.edu 37 8 42036571 42036583 + Frame_Shift_Del DEL GAAAGGAGACACT GAAAGGAGACACT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GAAAGGAGACACT GAAAGGAGACACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 42036571 42036583 GAAAGGAGACACT - DEL PLAT ENST00000220809 human ensembl 74_37 -1 known frame_shift_del c.1374_1364 p.S456fs 0.666:0.393:0.352:0.012:0.931:1.000:1.000:1.000:1.000:0.986:0.999 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 59 0 0 76 11 12.6437 ENSG00000199405 0 genome.wustl.edu 37 8 56815414 56815416 + RNA DEL TTT TTT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 56815414 56815416 TTT - DEL ENSG00000199405 ENST00000362535 human ensembl 74_37 -1 novel rna NULL NULL 0.582:0.596:0.602 - - - no_errors SNORA1 RFAM ENSG00000199405 52 0 0 72 8 10 CHD7 0 genome.wustl.edu 37 8 61654516 61654516 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 61654516 61654516 G - DEL CHD7 ENST00000423902 human ensembl 74_37 +1 known frame_shift_del c.525 p.P178fs 0.718 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 38 0 0 40 6 13.0435 CHD7 0 genome.wustl.edu 37 8 61765669 61765669 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 61765669 61765669 A - DEL CHD7 ENST00000423902 human ensembl 74_37 +1 known frame_shift_del c.6385 p.N2130fs 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 41 0 0 57 13 18.5714 MYBL1 0 genome.wustl.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 67488453 67488453 T - DEL MYBL1 ENST00000522677 human ensembl 74_37 -1 known frame_shift_del c.1259 p.N420fs 0.992 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 184 0 0 227 40 14.9813 KCNB2 0 genome.wustl.edu 37 8 73479985 73479985 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 73479985 73479985 C - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.16 p.P7fs 0.570 NULL pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 178 1 0.558659 170 17 9.09091 ZFHX4 0 genome.wustl.edu 37 8 77775799 77775799 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 77775799 77775799 G - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.9849 p.G3285fs 0.999 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 ZFHX4 HGNC ENSG00000091656 111 0 0 122 13 9.62963 SGK223 0 genome.wustl.edu 37 8 8234430 8234430 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 8234430 8234430 C - DEL SGK223 ENST00000330777 human ensembl 74_37 -1 known frame_shift_del c.1489 p.V497fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 45 0 0 62 9 12.6761 IMPA1 0 genome.wustl.edu 37 8 82588515 82588516 + Splice_Site INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 82588515 82588516 - T INS IMPA1 ENST00000449740 human ensembl 74_37 -1 known splice_site_ins c.480-2_480-1 e5-1 1.000:0.993 - - - no_errors IMPA1 HGNC ENSG00000133731 22 0 0 41 5 10.8696 CA2 0 genome.wustl.edu 37 8 86386635 86386635 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 86386635 86386635 T - DEL CA2 ENST00000285379 human ensembl 74_37 +1 known frame_shift_del c.434 p.L147fs 0.362 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 CA2 HGNC ENSG00000104267 139 0 0 180 19 9.54774 SNORA72 0 genome.wustl.edu 37 8 99054837 99054840 + RNA DEL AAAA AAAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 8 99054837 99054840 AAAA - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049:0.047:0.041:0.033 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 62 0 0 58 37 38.9474 MSANTD3 0 genome.wustl.edu 37 9 103204464 103204464 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 103204464 103204464 A - DEL MSANTD3 ENST00000395067 human ensembl 74_37 +1 known frame_shift_del c.244 p.I84fs 1.000 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 44 0 0 30 4 11.7647 SMC2 0 genome.wustl.edu 37 9 106885501 106885501 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 106885501 106885501 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.2245 p.T751fs 0.998 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 61 0 0 61 13 17.5676 MIR4668 0 genome.wustl.edu 37 9 114694384 114694385 + RNA DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 114694384 114694385 AA - DEL MIR4668 ENST00000582284 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR4668 HGNC ENSG00000266315 35 0 0 28 10 26.3158 ZNF618 0 genome.wustl.edu 37 9 116812495 116812495 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 116812495 116812495 A - DEL ZNF618 ENST00000470105 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF618 HGNC ENSG00000157657 50 0 0 40 11 21.5686 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827754 + Frame_Shift_Del DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 125827753 125827754 AA - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717_1718 p.K576fs 0.000:0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 58 0 0 29 13 30.9524 C9orf78 0 genome.wustl.edu 37 9 132596001 132596001 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 132596001 132596001 A - DEL C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 23 0 0 18 3 14.2857 FNBP1 0 genome.wustl.edu 37 9 132678318 132678318 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 132678318 132678318 A - DEL FNBP1 ENST00000462766 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FNBP1 HGNC ENSG00000187239 21 0 0 13 4 23.5294 NUP214 0 genome.wustl.edu 37 9 134003995 134003996 + RNA DEL AA AA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 134003995 134003996 AA - DEL NUP214 ENST00000526412 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NUP214 HGNC ENSG00000126883 13 0 0 17 7 29.1667 TSC1 0 genome.wustl.edu 37 9 135772951 135772951 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 135772951 135772951 T - DEL TSC1 ENST00000298552 human ensembl 74_37 -1 known frame_shift_del c.2672 p.N891fs 0.995 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 238 0 0 216 47 17.8707 PPP1R26 0 genome.wustl.edu 37 9 138377324 138377324 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 138377324 138377324 C - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.968 p.C325fs 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 108 0 0 76 16 17.3913 FAM69B 0 genome.wustl.edu 37 9 139616704 139616704 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 139616704 139616704 G - DEL FAM69B ENST00000371692 human ensembl 74_37 +1 known frame_shift_del c.434 p.G146fs 0.998 NULL pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 38 0 0 24 9 27.2727 TPRN 0 genome.wustl.edu 37 9 140094255 140094255 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 140094255 140094255 G - DEL TPRN ENST00000409012 human ensembl 74_37 -1 known frame_shift_del c.909 p.K304fs 0.993 NULL NULL - no_errors TPRN HGNC ENSG00000176058 15 0 0 11 3 21.4286 ADAMTSL1 0 genome.wustl.edu 37 9 18829843 18829843 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 18829843 18829843 C - DEL ADAMTSL1 ENST00000388710 human ensembl 74_37 +1 known frame_shift_del c.220 p.Q76fs 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 101 0 0 44 10 18.5185 MLLT3 0 genome.wustl.edu 37 9 20346378 20346380 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 20346378 20346380 AAA - DEL MLLT3 ENST00000380323 human ensembl 74_37 -1 known rna NULL NULL 0.966:0.950:0.903 - - - no_errors MLLT3 HGNC ENSG00000171843 32 0 0 21 3 12.5 FOCAD 0 genome.wustl.edu 37 9 20862797 20862798 + RNA INS - - TGT TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 20862797 20862798 - TGT INS FOCAD ENST00000603844 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.008 - - - no_errors FOCAD HGNC ENSG00000188352 31 0 0 25 9 26.4706 FOCAD 0 genome.wustl.edu 37 9 20874839 20874839 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 20874839 20874839 T - DEL FOCAD ENST00000604828 human ensembl 74_37 +1 known rna NULL NULL 0.456 - - - no_errors FOCAD HGNC ENSG00000188352 168 0 0 150 40 21.0526 UBAP2 0 genome.wustl.edu 37 9 33927049 33927049 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 33927049 33927049 C - DEL UBAP2 ENST00000360802 human ensembl 74_37 -1 known frame_shift_del c.2401 p.V801fs 0.999 NULL pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 56 0 0 26 7 21.2121 KIF24 0 genome.wustl.edu 37 9 34257623 34257623 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 34257623 34257623 T - DEL KIF24 ENST00000379166 human ensembl 74_37 -1 known frame_shift_del c.1982 p.K661fs 0.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 111 1 0.892857 69 12 14.8148 PIGO 0 genome.wustl.edu 37 9 35091693 35091693 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 35091693 35091693 G - DEL PIGO ENST00000341666 human ensembl 74_37 -1 known frame_shift_del c.2191 p.R731fs 0.180 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 76 0 0 76 12 13.6364 FAM214B 0 genome.wustl.edu 37 9 35108148 35108148 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 35108148 35108148 C - DEL FAM214B ENST00000322813 human ensembl 74_37 -1 known frame_shift_del c.124 p.A42fs 0.584 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 33 0 0 16 6 27.2727 TLE1 0 genome.wustl.edu 37 9 84202608 84202610 + In_Frame_Del DEL GTC GTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 GTC GTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 84202608 84202610 GTC - DEL TLE1 ENST00000376499 human ensembl 74_37 -1 known in_frame_del c.1965_1963 p.D655in_frame_del 1.000:1.000:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 46 0 0 23 6 20.6897 SPATA31D1 0 genome.wustl.edu 37 9 84606643 84606643 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 84606643 84606643 A - DEL SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known frame_shift_del c.1258 p.R422fs 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 49 0 0 35 12 25.5319 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 19 0 0 7 8 53.3333 PHF2 0 genome.wustl.edu 37 9 96438894 96438894 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 96438894 96438894 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.2851 p.K953fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 25 0 0 18 3 14.2857 PTCH1 0 genome.wustl.edu 37 9 98209617 98209617 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 9 98209617 98209617 G - DEL PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_del c.3921 p.R1308fs 0.441 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 100 0 0 85 16 15.8416 HNRNPH2 0 genome.wustl.edu 37 X 100668112 100668112 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 100668112 100668112 T - DEL HNRNPH2 ENST00000316594 human ensembl 74_37 +1 known frame_shift_del c.1136 p.L381fs 1.000 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH2 HGNC ENSG00000126945 348 2 0.571429 244 53 17.8451 GPRASP1 0 genome.wustl.edu 37 X 101912652 101912653 + Frame_Shift_Del DEL CA CA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 101912652 101912653 CA - DEL GPRASP1 ENST00000361600 human ensembl 74_37 +1 known frame_shift_del c.3811_3812 p.L1273fs 0.772:0.581 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 136 0 0 109 27 19.8529 RNF128 0 genome.wustl.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 105937256 105937256 T - DEL RNF128 ENST00000324342 human ensembl 74_37 +1 known frame_shift_del c.24 p.W11fs 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 55 0 0 41 15 26.7857 COL4A5 0 genome.wustl.edu 37 X 107827718 107827718 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 107827718 107827718 A - DEL COL4A5 ENST00000328300 human ensembl 74_37 +1 known frame_shift_del c.995 p.G334fs 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 65 0 0 40 7 14.8936 UTP14A 0 genome.wustl.edu 37 X 129055622 129055622 + RNA DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 129055622 129055622 A - DEL UTP14A ENST00000498179 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UTP14A HGNC ENSG00000156697 21 0 0 15 5 25 MAP7D3 0 genome.wustl.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 135314194 135314194 G - DEL MAP7D3 ENST00000370663 human ensembl 74_37 -1 known frame_shift_del c.868 p.Q290fs 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 346 2 0.574713 220 55 20 AFF2 0 genome.wustl.edu 37 X 148037653 148037655 + In_Frame_Del DEL AGA AGA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 148037653 148037655 AGA - DEL AFF2 ENST00000370460 human ensembl 74_37 +1 known in_frame_del c.2078_2080 p.K696in_frame_del 1.000:0.999:1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 167 0 0 99 17 14.6552 AKAP17A 0 genome.wustl.edu 37 X 1712982 1712983 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 1712982 1712983 - G INS AKAP17A ENST00000313871 human ensembl 74_37 +1 known frame_shift_ins c.627_628 p.H211fs 0.994:1.000 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 137 0 0 100 26 20.6349 PRDX4 0 genome.wustl.edu 37 X 23693251 23693251 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 23693251 23693251 A - DEL PRDX4 ENST00000379331 human ensembl 74_37 +1 known frame_shift_del c.504 p.R171fs 0.003 NULL pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX4 HGNC ENSG00000123131 68 0 0 65 12 15.5844 PRKX 0 genome.wustl.edu 37 X 3544540 3544540 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 3544540 3544540 A - DEL PRKX ENST00000262848 human ensembl 74_37 -1 known frame_shift_del c.735 p.F245fs 0.998 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKX HGNC ENSG00000183943 39 0 0 29 8 21.6216 PRRG1 0 genome.wustl.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 37312611 37312611 C - DEL PRRG1 ENST00000378628 human ensembl 74_37 +1 known frame_shift_del c.394 p.P134fs 0.109 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 166 1 0.598802 125 33 20.8861 MED14 0 genome.wustl.edu 37 X 40588606 40588608 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 40588606 40588608 AAA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.610 - - - no_errors MED14 HGNC ENSG00000180182 21 0 0 29 6 17.1429 ELK1 0 genome.wustl.edu 37 X 47509864 47509865 + RNA INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 47509864 47509865 - G INS ELK1 ENST00000468956 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ELK1 HGNC ENSG00000126767 56 0 0 39 8 17.0213 HUWE1 0 genome.wustl.edu 37 X 53643948 53643950 + In_Frame_Del DEL CTC CTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 53643948 53643950 CTC - DEL HUWE1 ENST00000262854 human ensembl 74_37 -1 known in_frame_del c.1940_1938 p.R647in_frame_del 1.000:1.000:1.000 pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 53 0 0 34 9 20.9302 YIPF6 0 genome.wustl.edu 37 X 67731667 67731667 + RNA DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 67731667 67731667 T - DEL YIPF6 ENST00000496576 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors YIPF6 HGNC ENSG00000181704 140 0 0 123 24 16.3265 HMGN5 0 genome.wustl.edu 37 X 80377176 80377178 + RNA DEL AAA AAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 X 80377176 80377178 AAA - DEL HMGN5 ENST00000491275 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.001 - - - no_errors HMGN5 HGNC ENSG00000198157 14 0 0 9 4 30.7692