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 KCNA10 0 genome.wustl.edu 37 1 111061291 111061291 + Missense_Mutation SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 111061291 111061291 C T SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.119 p.R40Q 0.096 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 103 0 0 97 20 17.094 SYT6 0 genome.wustl.edu 37 1 114682265 114682265 + Nonsense_Mutation SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 114682265 114682265 G A SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known nonsense c.484 p.Q162* 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 101 0 0 58 22 27.5 MNDA 0 genome.wustl.edu 37 1 158815551 158815551 + Missense_Mutation SNP G G T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 158815551 158815551 G T SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.745 p.V249L 0.887 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 130 0 0 102 13 11.3043 CROCCP2 0 genome.wustl.edu 37 1 16946336 16946336 + RNA SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 16946336 16946336 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors CROCCP2 HGNC ENSG00000215908 25 0 0 28 5 15.1515 COX15 0 genome.wustl.edu 37 10 101483725 101483725 + Silent SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 10 101483725 101483725 G A SNP COX15 ENST00000016171 human ensembl 74_37 -1 known silent c.738 p.L246 0.139 pfam_HemeA_syn pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom - no_errors COX15 HGNC ENSG00000014919 217 0 0 159 46 22.439 HSPA12A 0 genome.wustl.edu 37 10 118434813 118434813 + Missense_Mutation SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 10 118434813 118434813 G A SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.1507 p.R503W 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 63 0 0 47 18 27.6923 TACC2 0 genome.wustl.edu 37 10 123970399 123970399 + Silent SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 10 123970399 123970399 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.6459 p.T2153 0.002 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 584 0 0 480 93 16.2304 SPAG6 0 genome.wustl.edu 37 10 22657513 22657513 + Silent SNP A A C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 10 22657513 22657513 A C SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known silent c.606 p.A202 0.065 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 210 0 0 143 39 21.4286 CTNNA3 0 genome.wustl.edu 37 10 67679956 67679956 + RNA SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 10 67679956 67679956 G A SNP CTNNA3 ENST00000373735 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTNNA3 HGNC ENSG00000183230 23 0 0 16 5 23.8095 OR4C16 0 genome.wustl.edu 37 11 55339628 55339628 + Missense_Mutation SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 11 55339628 55339628 G A SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.25 p.E9K 0.016 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 216 0 0 151 46 23.3503 RASGRP2 0 genome.wustl.edu 37 11 64510268 64510268 + Missense_Mutation SNP A A G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 11 64510268 64510268 A G SNP RASGRP2 ENST00000377494 human ensembl 74_37 -1 known missense c.71 p.F24S 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 23 0 0 18 6 25 PAK1 0 genome.wustl.edu 37 11 77070042 77070042 + Missense_Mutation SNP C C G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 11 77070042 77070042 C G SNP PAK1 ENST00000278568 human ensembl 74_37 -1 known missense c.498 p.E166D 1.000 superfamily_WASP_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK1 HGNC ENSG00000149269 104 0 0 96 28 22.5806 FOLH1B 0 genome.wustl.edu 37 11 89403629 89403629 + RNA SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 11 89403629 89403629 G A SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 207 0 0 177 14 7.32984 GPR133 0 genome.wustl.edu 37 12 131569149 131569149 + Missense_Mutation SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 12 131569149 131569149 G A SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.1612 p.V538I 0.003 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 62 0 0 53 40 43.0108 TMCC3 0 genome.wustl.edu 37 12 94976263 94976263 + Missense_Mutation SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 12 94976263 94976263 C T SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.130 p.G44R 1.000 NULL pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 261 0 0 200 57 22.179 OR4N4 0 genome.wustl.edu 37 15 22383082 22383082 + Missense_Mutation SNP G G C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 15 22383082 22383082 G C SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.610 p.G204R 0.112 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 493 0 0 492 42 7.86517 AP3B2 0 genome.wustl.edu 37 15 83349607 83349607 + Silent SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 15 83349607 83349607 G A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known silent c.753 p.F251 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 50 0 0 42 12 22.2222 AKAP13 0 genome.wustl.edu 37 15 86077059 86077059 + Missense_Mutation SNP C C G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 15 86077059 86077059 C G SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.426 p.H142Q 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 153 0 0 117 23 16.4286 SPSB3 0 genome.wustl.edu 37 16 1831391 1831391 + Missense_Mutation SNP A A G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 16 1831391 1831391 A G SNP SPSB3 ENST00000301717 human ensembl 74_37 -1 known missense c.94 p.S32P 0.015 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB3 HGNC ENSG00000162032 97 0 0 93 28 23.1405 KIAA0100 0 genome.wustl.edu 37 17 26965392 26965392 + Missense_Mutation SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 26965392 26965392 C T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.1390 p.V464I 0.752 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 92 0 0 125 8 6.01504 TOP2A 0 genome.wustl.edu 37 17 38560458 38560458 + Missense_Mutation SNP C C A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 38560458 38560458 C A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.2229 p.K743N 1.000 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_like_dom,smart_Topo_IIA_A/C,prints_TopoII_euk pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 411 0 0 315 112 26.2295 CDH2 0 genome.wustl.edu 37 18 25585844 25585844 + Missense_Mutation SNP C C A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 18 25585844 25585844 C A SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.816 p.W272C 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 351 0 0 202 62 23.4848 ZNF554 0 genome.wustl.edu 37 19 2834817 2834817 + Silent SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 19 2834817 2834817 G A SNP ZNF554 ENST00000317243 human ensembl 74_37 +1 known silent c.1584 p.A528 0.799 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 ZNF554 HGNC ENSG00000172006 217 0 0 144 51 26.1538 SLC1A5 0 genome.wustl.edu 37 19 47281994 47281994 + Missense_Mutation SNP G G T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 19 47281994 47281994 G T SNP SLC1A5 ENST00000542575 human ensembl 74_37 -1 known missense c.996 p.N332K 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC ENSG00000105281 105 1 0.943396 72 35 32.7103 IRF3 0 genome.wustl.edu 37 19 50163007 50163007 + Missense_Mutation SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 19 50163007 50163007 G A SNP IRF3 ENST00000601291 human ensembl 74_37 -1 putative missense c.1198 p.H400Y 1.000 NULL pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 179 0 0 104 39 27.2727 PDIA6 0 genome.wustl.edu 37 2 10930895 10930895 + Missense_Mutation SNP G G C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 10930895 10930895 G C SNP PDIA6 ENST00000381611 human ensembl 74_37 -1 known missense c.664 p.L222V 0.991 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors PDIA6 HGNC ENSG00000143870 186 0 0 159 39 19.697 DYNC1I2 0 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 45 0 0 37 3 7.5 TTN 0 genome.wustl.edu 37 2 179422480 179422480 + Missense_Mutation SNP T T G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 179422480 179422480 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.79897 p.K26633Q 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 745 0 0 618 63 9.2511 APOB 0 genome.wustl.edu 37 2 21233527 21233527 + Silent SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 21233527 21233527 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.6213 p.L2071 0.942 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 213 0 0 145 49 25.2577 APOB 0 genome.wustl.edu 37 2 21241934 21241934 + Silent SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 21241934 21241934 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.3051 p.S1017 0.211 pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 246 0 0 193 53 21.5447 SH3BP4 0 genome.wustl.edu 37 2 235951699 235951699 + Silent SNP C C A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 235951699 235951699 C A SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known silent c.2286 p.L762 0.986 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 95 0 0 58 14 19.4444 LRPPRC 0 genome.wustl.edu 37 2 44139618 44139618 + Missense_Mutation SNP T T G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 44139618 44139618 T G SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.3228 p.L1076F 0.864 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 108 1 0.917431 93 31 25 NRXN1 0 genome.wustl.edu 37 2 50765393 50765393 + Missense_Mutation SNP C C G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 50765393 50765393 C G SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.2117 p.R706T 1.000 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 231 1 0.431034 158 45 22.1675 BTBD3 0 genome.wustl.edu 37 20 11899738 11899738 + Missense_Mutation SNP G G T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 20 11899738 11899738 G T SNP BTBD3 ENST00000378226 human ensembl 74_37 +1 known missense c.331 p.A111S 1.000 superfamily_BTB/POZ_fold pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 50 0 0 28 11 28.2051 BTBD3 0 genome.wustl.edu 37 20 11900476 11900476 + Silent SNP T T A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 20 11900476 11900476 T A SNP BTBD3 ENST00000378226 human ensembl 74_37 +1 known silent c.528 p.A176 0.798 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 182 0 0 150 38 20.2128 BPIFB2 0 genome.wustl.edu 37 20 31609144 31609144 + Missense_Mutation SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 20 31609144 31609144 C T SNP BPIFB2 ENST00000170150 human ensembl 74_37 +1 known missense c.1252 p.L418F 0.999 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 46 0 0 46 7 13.2075 SOGA1 0 genome.wustl.edu 37 20 35422968 35422968 + Missense_Mutation SNP T T C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 20 35422968 35422968 T C SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.3517 p.S1173G 1.000 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 245 0 0 188 72 27.6923 SAMHD1 0 genome.wustl.edu 37 20 35555588 35555588 + Missense_Mutation SNP C C A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 20 35555588 35555588 C A SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known missense c.693 p.W231C 1.000 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 213 1 0.46729 155 51 24.7573 RAB6B 0 genome.wustl.edu 37 3 133553468 133553468 + Silent SNP C C A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 3 133553468 133553468 C A SNP RAB6B ENST00000285208 human ensembl 74_37 -1 known silent c.513 p.A171 0.004 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,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 RAB6B HGNC ENSG00000154917 211 1 0.471698 162 40 19.802 SLC25A20 0 genome.wustl.edu 37 3 48896993 48896993 + Silent SNP T T A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 3 48896993 48896993 T A SNP SLC25A20 ENST00000319017 human ensembl 74_37 -1 known silent c.603 p.G201 0.991 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A20 HGNC ENSG00000178537 272 0 0 190 13 6.40394 PCDHB18 0 genome.wustl.edu 37 5 140615963 140615963 + RNA SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 5 140615963 140615963 G A SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 214 0 0 160 40 20 C5orf42 0 genome.wustl.edu 37 5 37173906 37173906 + Missense_Mutation SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 5 37173906 37173906 G A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.6122 p.S2041L 0.988 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 239 0 0 220 33 13.0435 SREK1 0 genome.wustl.edu 37 5 65465970 65465970 + Missense_Mutation SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 5 65465970 65465970 C T SNP SREK1 ENST00000334121 human ensembl 74_37 +1 known missense c.1093 p.R365W 0.988 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 85 0 0 45 16 26.2295 ROS1 0 genome.wustl.edu 37 6 117645542 117645542 + Missense_Mutation SNP G G T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 6 117645542 117645542 G T SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.5594 p.T1865N 0.002 superfamily_Fibronectin_type3 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 51 0 0 36 6 14.2857 TEAD3 0 genome.wustl.edu 37 6 35443212 35443212 + Silent SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 6 35443212 35443212 C T SNP TEAD3 ENST00000402886 human ensembl 74_37 -1 novel silent c.915 p.S305 0.121 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD3 HGNC ENSG00000007866 133 0 0 87 22 20.1835 BMP5 0 genome.wustl.edu 37 6 55638953 55638953 + Silent SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 6 55638953 55638953 C T SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known silent c.921 p.A307 0.898 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 192 0 0 214 21 8.93617 KMT2C 0 genome.wustl.edu 37 7 151878743 151878743 + Missense_Mutation SNP A A T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 7 151878743 151878743 A T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.6202 p.S2068T 0.000 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 130 0 0 89 5 5.31915 ABCA13 0 genome.wustl.edu 37 7 48313582 48313582 + Nonsense_Mutation SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 7 48313582 48313582 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known nonsense c.4319 p.W1440* 0.012 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 53 0 0 38 6 13.6364 CCT6P3 0 genome.wustl.edu 37 7 64528850 64528850 + RNA SNP T T G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 7 64528850 64528850 T G SNP CCT6P3 ENST00000426828 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors CCT6P3 HGNC ENSG00000234585 26 0 0 37 3 7.5 EFR3A 0 genome.wustl.edu 37 8 132980566 132980566 + Missense_Mutation SNP C C G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 8 132980566 132980566 C G SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.880 p.Q294E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 64 0 0 44 13 22.807 SLC45A4 0 genome.wustl.edu 37 8 142228731 142228731 + Silent SNP G G A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 8 142228731 142228731 G A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known silent c.1008 p.H336 0.363 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 151 0 0 107 56 34.3558 CSMD1 0 genome.wustl.edu 37 8 3165968 3165968 + Missense_Mutation SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 8 3165968 3165968 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.3692 p.R1231H 0.960 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 75 0 0 44 19 30.1587 KCNU1 0 genome.wustl.edu 37 8 36768479 36768479 + Missense_Mutation SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 8 36768479 36768479 C T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.2363 p.A788V 0.063 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 243 0 0 169 60 26.2009 ZNF484 0 genome.wustl.edu 37 9 95608610 95608610 + Missense_Mutation SNP C C G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 9 95608610 95608610 C G SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known missense c.2465 p.S822T 0.018 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 ZNF484 HGNC ENSG00000127081 597 0 0 536 39 6.78261 GABRA3 0 genome.wustl.edu 37 X 151424320 151424320 + Missense_Mutation SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 X 151424320 151424320 C T SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known missense c.481 p.A161T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 333 0 0 256 74 22.4242 SH3KBP1 0 genome.wustl.edu 37 X 19560206 19560206 + Missense_Mutation SNP A A G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 X 19560206 19560206 A G SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.1729 p.S577P 0.930 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 200 0 0 190 33 14.7982 KLHL15 0 genome.wustl.edu 37 X 24024572 24024572 + Missense_Mutation SNP G G C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 X 24024572 24024572 G C SNP KLHL15 ENST00000328046 human ensembl 74_37 -1 known missense c.239 p.T80S 0.992 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 KLHL15 HGNC ENSG00000174010 278 0 0 224 32 12.5 DMD 0 genome.wustl.edu 37 X 31152236 31152236 + Missense_Mutation SNP G G C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 X 31152236 31152236 G C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.10997 p.S3666C 1.000 pirsf_Dystrophin/utrophin 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 76 0 0 59 14 19.1781 CCNB3 0 genome.wustl.edu 37 X 50052274 50052274 + Missense_Mutation SNP T T A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 X 50052274 50052274 T A SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.1105 p.F369I 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 156 0 0 132 24 15.3846 XIST 0 genome.wustl.edu 37 X 73043833 73043833 + RNA SNP G G C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 X 73043833 73043833 G C SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 26 0 0 26 3 10.3448 ATP7A 0 genome.wustl.edu 37 X 77245137 77245137 + Missense_Mutation SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 X 77245137 77245137 C T SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known missense c.1019 p.P340L 1.000 superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 430 0 0 355 27 7.06806 RPS6KA6 0 genome.wustl.edu 37 X 83351320 83351320 + Splice_Site SNP C C T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 X 83351320 83351320 C T SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known splice_site c.1854-1 e20-1 1.000 - - - no_errors RPS6KA6 HGNC ENSG00000072133 66 0 0 51 15 22.7273 FBXO2 0 genome.wustl.edu 37 1 11710068 11710069 + In_Frame_Ins INS - - GCA TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 11710068 11710069 - GCA INS FBXO2 ENST00000354287 human ensembl 74_37 -1 known in_frame_ins c.455_454 p.152in_frame_insL 0.998:1.000 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO2 HGNC ENSG00000116661 501 0 0 546 31 5.37262 APOA1BP 0 genome.wustl.edu 37 1 156561936 156561937 + In_Frame_Ins INS - - ACC TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 156561936 156561937 - ACC INS APOA1BP ENST00000368235 human ensembl 74_37 +1 known in_frame_ins c.226_227 p.77in_frame_insH 1.000:1.000 pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom - no_errors APOA1BP HGNC ENSG00000163382 316 0 0 264 49 15.655 DUSP12 0 genome.wustl.edu 37 1 161722918 161722919 + Frame_Shift_Ins INS - - TA TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 161722918 161722919 - TA INS DUSP12 ENST00000367943 human ensembl 74_37 +1 known frame_shift_ins c.728_729 p.A245fs 0.391:0.000 pirsf_DUSP12,pfscan_Znf_C2H2 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP12 HGNC ENSG00000081721 331 0 0 291 45 13.3929 ELF3 0 genome.wustl.edu 37 1 201981535 201981536 + Frame_Shift_Ins INS - - C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 201981535 201981536 - C INS ELF3 ENST00000359651 human ensembl 74_37 +1 known frame_shift_ins c.449_450 p.Q151fs 0.994:0.998 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 256 0 0 171 37 17.7885 HSPG2 0 genome.wustl.edu 37 1 22222792 22222792 + Frame_Shift_Del DEL C C - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 22222792 22222792 C - DEL HSPG2 ENST00000374695 human ensembl 74_37 -1 known frame_shift_del c.75 p.L26fs 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 440 0 0 410 43 9.49227 NCDN 0 genome.wustl.edu 37 1 36026335 36026336 + Frame_Shift_Ins INS - - C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 36026335 36026336 - C INS NCDN ENST00000356090 human ensembl 74_37 +1 known frame_shift_ins c.583_584 p.L196fs 1.000:1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 135 0 0 111 15 11.9048 ZC3H12A 0 genome.wustl.edu 37 1 37948822 37948824 + In_Frame_Del DEL CTA CTA - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 CTA CTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 37948822 37948824 CTA - DEL ZC3H12A ENST00000373087 human ensembl 74_37 +1 known in_frame_del c.1410_1412 p.Y471in_frame_del 0.000:0.002:0.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 303 0 0 227 33 12.6923 PIK3R3 0 genome.wustl.edu 37 1 46531734 46531734 + Frame_Shift_Del DEL T T - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 46531734 46531734 T - DEL PIK3R3 ENST00000540385 human ensembl 74_37 -1 known frame_shift_del c.751 p.T251fs 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 234 0 0 209 25 10.6838 MSH4 0 genome.wustl.edu 37 1 76342667 76342680 + Frame_Shift_Del DEL GTTCCTTGGAAGAC GTTCCTTGGAAGAC - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 GTTCCTTGGAAGAC GTTCCTTGGAAGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 76342667 76342680 GTTCCTTGGAAGAC - DEL MSH4 ENST00000263187 human ensembl 74_37 +1 known frame_shift_del c.1352_1365 p.G451fs 0.898:0.916:0.997:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998 pfam_DNA_mismatch_repair_MutS_core,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_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 121 0 0 77 7 8.33333 LZIC 0 genome.wustl.edu 37 1 9994876 9994876 + Frame_Shift_Del DEL C C - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 1 9994876 9994876 C - DEL LZIC ENST00000541052 human ensembl 74_37 -1 known frame_shift_del c.343 p.V115fs 1.000 NULL pfam_ICAT,superfamily_ICAT - no_errors LZIC HGNC ENSG00000162441 455 0 0 403 65 13.8889 FGF8 0 genome.wustl.edu 37 10 103534663 103534664 + Frame_Shift_Ins INS - - AGTT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 10 103534663 103534664 - AGTT INS FGF8 ENST00000320185 human ensembl 74_37 -1 known frame_shift_ins c.163_162 p.V54fs 1.000:1.000 superfamily_Cytokine_IL1-like pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF8 HGNC ENSG00000107831 96 0 0 72 16 18.1818 HKDC1 0 genome.wustl.edu 37 10 70986987 70986988 + Frame_Shift_Ins INS - - GGCT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 10 70986987 70986988 - GGCT INS HKDC1 ENST00000354624 human ensembl 74_37 +1 known frame_shift_ins c.88_89 p.S32fs 1.000:1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 239 1 0.416667 218 32 12.8 PHLDB1 0 genome.wustl.edu 37 11 118520800 118520801 + Frame_Shift_Ins INS - - CG TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 11 118520800 118520801 - CG INS PHLDB1 ENST00000361417 human ensembl 74_37 +1 known frame_shift_ins c.3673_3674 p.Y1225fs 1.000:1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 271 0 0 235 18 7.11462 GLYATL1 0 genome.wustl.edu 37 11 58722252 58722255 + Frame_Shift_Del DEL GATG GATG - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 GATG GATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 11 58722252 58722255 GATG - DEL GLYATL1 ENST00000300079 human ensembl 74_37 +1 known frame_shift_del c.289_292 p.D97fs 0.096:0.084:0.029:0.024 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 195 0 0 162 14 7.95455 SF3B2 0 genome.wustl.edu 37 11 65820188 65820189 + Frame_Shift_Ins INS - - AGGT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 11 65820188 65820189 - AGGT INS SF3B2 ENST00000322535 human ensembl 74_37 +1 known frame_shift_ins c.178_179 p.T61fs 0.992:1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 159 0 0 142 11 7.18954 TBX10 0 genome.wustl.edu 37 11 67399787 67399788 + Splice_Site DEL AC AC - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 11 67399787 67399788 AC - DEL TBX10 ENST00000335385 human ensembl 74_37 -1 known splice_site_del c.868+1_868+1 e7+1 0.723:0.784 - - - no_errors TBX10 HGNC ENSG00000167800 275 1 0.362319 250 20 7.40741 C2CD3 0 genome.wustl.edu 37 11 73803565 73803566 + Frame_Shift_Ins INS - - C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 11 73803565 73803566 - C INS C2CD3 ENST00000334126 human ensembl 74_37 -1 known frame_shift_ins c.3413_3412 p.A1138fs 1.000:1.000 smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 227 0 0 116 33 22.1477 LRRK2 0 genome.wustl.edu 37 12 40619411 40619412 + In_Frame_Ins INS - - CTC TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 12 40619411 40619412 - CTC INS LRRK2 ENST00000298910 human ensembl 74_37 +1 known in_frame_ins c.206_207 p.71in_frame_insS 1.000:0.997 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 105 0 0 77 13 14.4444 ACVR1B 0 genome.wustl.edu 37 12 52377884 52377884 + Frame_Shift_Del DEL A A - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 12 52377884 52377884 A - DEL ACVR1B ENST00000257963 human ensembl 74_37 +1 known frame_shift_del c.913 p.I305fs 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 103 0 0 50 19 27.5362 BAZ2A 0 genome.wustl.edu 37 12 57000427 57000428 + In_Frame_Ins INS - - TAG TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 12 57000427 57000428 - TAG INS BAZ2A ENST00000551812 human ensembl 74_37 -1 known in_frame_ins c.2189_2188 p.730in_frame_insT 0.000:0.023 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 850 0 0 777 149 16.0907 METTL21B 0 genome.wustl.edu 37 12 58166512 58166513 + Frame_Shift_Ins INS - - G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 12 58166512 58166513 - G INS METTL21B ENST00000300209 human ensembl 74_37 +1 known frame_shift_ins c.5_6 p.D3fs 0.933:0.002 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 43 0 0 69 9 11.5385 LEMD3 0 genome.wustl.edu 37 12 65564812 65564812 + Frame_Shift_Del DEL C C - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 12 65564812 65564812 C - DEL LEMD3 ENST00000308330 human ensembl 74_37 +1 known frame_shift_del c.1436 p.T479fs 1.000 NULL pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD3 HGNC ENSG00000174106 199 0 0 142 37 20.6704 MIR1251 0 genome.wustl.edu 37 12 97885724 97885728 + RNA DEL CAGAG CAGAG - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 CAGAG CAGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 12 97885724 97885728 CAGAG - DEL MIR1251 ENST00000408552 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000:1.000:1.000 - - - no_errors MIR1251 HGNC ENSG00000221479 121 0 0 95 11 10.3774 F10 0 genome.wustl.edu 37 13 113795276 113795277 + Frame_Shift_Del DEL GT GT - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 13 113795276 113795277 GT - DEL F10 ENST00000375559 human ensembl 74_37 +1 known frame_shift_del c.414_415 p.Q138fs 1.000:1.000 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 222 0 0 193 20 9.38967 EVL 0 genome.wustl.edu 37 14 100608121 100608121 + Frame_Shift_Del DEL A A - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 14 100608121 100608121 A - DEL EVL ENST00000392920 human ensembl 74_37 +1 known frame_shift_del c.1210 p.I404fs 1.000 pfam_VASP_tetra,pirsf_Vasodilator_phosphoprotein pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 82 0 0 55 7 11.2903 NIN 0 genome.wustl.edu 37 14 51202240 51202241 + Frame_Shift_Ins INS - - AGCT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 14 51202240 51202241 - AGCT INS NIN ENST00000245441 human ensembl 74_37 -1 known frame_shift_ins c.5871_5870 p.M1958fs 0.911:0.999 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 110 0 0 70 11 13.5802 DUOXA1 0 genome.wustl.edu 37 15 45409999 45409999 + Frame_Shift_Del DEL C C - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 15 45409999 45409999 C - DEL DUOXA1 ENST00000267803 human ensembl 74_37 -1 known frame_shift_del c.1166 p.R389fs 0.001 NULL pfam_Dual_oxidase_maturation_fac - no_errors DUOXA1 HGNC ENSG00000140254 250 0 0 141 53 27.3196 HERC1 0 genome.wustl.edu 37 15 63966586 63966587 + Frame_Shift_Ins INS - - CACT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 15 63966586 63966587 - CACT INS HERC1 ENST00000443617 human ensembl 74_37 -1 known frame_shift_ins c.7801_7800 p.V2600fs 1.000:0.991 NULL 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 128 0 0 67 7 9.45946 PRSS8 0 genome.wustl.edu 37 16 31143847 31143852 + In_Frame_Del DEL CAGTTA CAGTTA - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 CAGTTA CAGTTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 16 31143847 31143852 CAGTTA - DEL PRSS8 ENST00000317508 human ensembl 74_37 -1 known in_frame_del c.608_603 p.NC202in_frame_del 1.000:1.000:0.997:0.997:1.000:0.992 pfam_Peptidase_S1,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 PRSS8 HGNC ENSG00000052344 146 0 0 104 26 20 SPECC1 0 genome.wustl.edu 37 17 20000065 20000066 + Frame_Shift_Ins INS - - T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 20000065 20000066 - T INS SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_ins c.101_102 p.S35fs 0.956:0.930 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 355 0 0 310 31 9.09091 NEUROD2 0 genome.wustl.edu 37 17 37761740 37761741 + Frame_Shift_Del DEL GG GG - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 37761740 37761741 GG - DEL NEUROD2 ENST00000302584 human ensembl 74_37 -1 known frame_shift_del c.1113_1112 p.P371fs 0.981:1.000 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 48 0 0 60 16 21.0526 KRT33A 0 genome.wustl.edu 37 17 39503140 39503141 + Frame_Shift_Ins INS - - GC TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 39503140 39503141 - GC INS KRT33A ENST00000007735 human ensembl 74_37 -1 known frame_shift_ins c.832_831 p.T277fs 1.000:1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 308 1 0.323625 281 54 16.1194 GRN 0 genome.wustl.edu 37 17 42427601 42427601 + Frame_Shift_Del DEL A A - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 42427601 42427601 A - DEL GRN ENST00000053867 human ensembl 74_37 +1 known frame_shift_del c.355 p.N119fs 0.019 NULL pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 288 0 0 229 57 19.9301 ANKRD40 0 genome.wustl.edu 37 17 48776902 48776902 + Frame_Shift_Del DEL T T - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 48776902 48776902 T - DEL ANKRD40 ENST00000285243 human ensembl 74_37 -1 known frame_shift_del c.636 p.V213fs 0.007 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 356 0 0 282 58 17.0588 CLTC 0 genome.wustl.edu 37 17 57743978 57743978 + Frame_Shift_Del DEL G G - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 57743978 57743978 G - DEL CLTC ENST00000269122 human ensembl 74_37 +1 known frame_shift_del c.1920 p.V641fs 0.934 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 137 0 0 104 14 11.8644 DLG4 0 genome.wustl.edu 37 17 7106118 7106119 + Frame_Shift_Ins INS - - G TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 7106118 7106119 - G INS DLG4 ENST00000485100 human ensembl 74_37 -1 putative frame_shift_ins c.882_881 p.M295fs 0.000:0.000 NULL pfam_PDZ,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DLG4 HGNC ENSG00000132535 38 0 0 15 12 44.4444 TP53 0 genome.wustl.edu 37 17 7578183 7578187 + Frame_Shift_Del DEL CGGCT CGGCT - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 CGGCT CGGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 7578183 7578187 CGGCT - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.666_662 p.E221fs 0.063:0.932:0.973:0.997:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 59 0 0 54 14 20.5882 TBCD 0 genome.wustl.edu 37 17 80888410 80888411 + Frame_Shift_Ins INS - - C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 17 80888410 80888411 - C INS TBCD ENST00000355528 human ensembl 74_37 +1 known frame_shift_ins c.3004_3005 p.Q1003fs 0.015:0.060 pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 57 0 0 39 10 20.4082 PHLPP1 0 genome.wustl.edu 37 18 60563239 60563240 + Frame_Shift_Ins INS - - CTAA TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 18 60563239 60563240 - CTAA INS PHLPP1 ENST00000262719 human ensembl 74_37 +1 known frame_shift_ins c.2439_2440 p.R814fs 0.990:0.997 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 67 0 0 47 9 16.0714 STX10 0 genome.wustl.edu 37 19 13259888 13259889 + Frame_Shift_Ins INS - - ATAT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 19 13259888 13259889 - ATAT INS STX10 ENST00000587230 human ensembl 74_37 -1 known frame_shift_ins c.318_317 p.M106fs 0.996:0.996 superfamily_t-SNARE pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX10 HGNC ENSG00000104915 20 0 0 20 11 35.4839 WDR88 0 genome.wustl.edu 37 19 33647447 33647448 + Frame_Shift_Ins INS - - CA TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 19 33647447 33647448 - CA INS WDR88 ENST00000355868 human ensembl 74_37 +1 known frame_shift_ins c.996_997 p.S332fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 126 0 0 132 13 8.96552 CEBPG 0 genome.wustl.edu 37 19 33870509 33870509 + Frame_Shift_Del DEL T T - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 19 33870509 33870509 T - DEL CEBPG ENST00000284000 human ensembl 74_37 +1 known frame_shift_del c.364 p.E124fs 1.000 smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors CEBPG HGNC ENSG00000153879 77 0 0 49 14 22.2222 ZNF805 0 genome.wustl.edu 37 19 57755419 57755420 + Splice_Site INS - - AAG TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 19 57755419 57755420 - AAG INS ZNF805 ENST00000414468 human ensembl 74_37 +1 known splice_site_ins c.157+2_157+1 e2+2 1.000:0.997 - - - no_errors ZNF805 HGNC ENSG00000204524 137 0 0 81 18 18.1818 POLR1B 0 genome.wustl.edu 37 2 113331234 113331235 + Frame_Shift_Ins INS - - A TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 113331234 113331235 - A INS POLR1B ENST00000541869 human ensembl 74_37 +1 known frame_shift_ins c.2481_2482 p.S827fs 1.000:1.000 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 243 0 0 183 51 21.7949 ALS2 0 genome.wustl.edu 37 2 202626188 202626189 + Frame_Shift_Ins INS - - GGTA TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 202626188 202626189 - GGTA INS ALS2 ENST00000264276 human ensembl 74_37 -1 known frame_shift_ins c.529_528 p.G176fs 1.000:0.003 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 164 0 0 118 24 16.9014 C2orf42 0 genome.wustl.edu 37 2 70377542 70377543 + Frame_Shift_Ins INS - - GGCC TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 70377542 70377543 - GGCC INS C2orf42 ENST00000264434 human ensembl 74_37 -1 known frame_shift_ins c.1671_1670 p.P558fs 0.001:0.924 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 332 0 0 257 32 11.0727 ALMS1 0 genome.wustl.edu 37 2 73678808 73678809 + In_Frame_Ins INS - - ATT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 73678808 73678809 - ATT INS ALMS1 ENST00000264448 human ensembl 74_37 +1 known in_frame_ins c.5151_5152 p.1718in_frame_insI 0.000:0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 306 0 0 279 53 15.9639 REEP1 0 genome.wustl.edu 37 2 86481815 86481816 + Splice_Site DEL AC AC - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 2 86481815 86481816 AC - DEL REEP1 ENST00000538924 human ensembl 74_37 -1 known splice_site_del c.324+1_324+1 e4+1 1.000:1.000 - - - no_errors REEP1 HGNC ENSG00000068615 205 0 0 172 29 14.4279 THBD 0 genome.wustl.edu 37 20 23029226 23029229 + Frame_Shift_Del DEL AGGA AGGA - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 AGGA AGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 20 23029226 23029229 AGGA - DEL THBD ENST00000377103 human ensembl 74_37 -1 known frame_shift_del c.916_913 p.S305fs 0.745:0.745:0.013:0.000 pirsf_CD93/CD141,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom 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 41 0 0 44 8 15.3846 NDRG3 0 genome.wustl.edu 37 20 35317145 35317146 + Frame_Shift_Ins INS - - CA TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 20 35317145 35317146 - CA INS NDRG3 ENST00000349004 human ensembl 74_37 -1 known frame_shift_ins c.136_135 p.I45fs 0.985:0.930 pfam_Ndr pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC ENSG00000101079 334 0 0 315 67 17.5393 SPATA2 0 genome.wustl.edu 37 20 48522189 48522190 + Frame_Shift_Ins INS - - T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 20 48522189 48522190 - T INS SPATA2 ENST00000289431 human ensembl 74_37 -1 known frame_shift_ins c.1530_1529 p.S511fs 1.000:1.000 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 239 0 0 171 52 23.3184 IL17REL 0 genome.wustl.edu 37 22 50436169 50436170 + Frame_Shift_Ins INS - - AACC TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 22 50436169 50436170 - AACC INS IL17REL ENST00000341280 human ensembl 74_37 -1 known frame_shift_ins c.822_821 p.F274fs 1.000:1.000 NULL NULL - no_errors IL17REL HGNC ENSG00000188263 120 0 0 116 18 13.4328 POLQ 0 genome.wustl.edu 37 3 121207265 121207266 + Frame_Shift_Ins INS - - TAAT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 3 121207265 121207266 - TAAT INS POLQ ENST00000264233 human ensembl 74_37 -1 known frame_shift_ins c.4513_4512 p.P1504fs 0.000:0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 169 0 0 175 16 8.37696 TM4SF1 0 genome.wustl.edu 37 3 149093465 149093466 + Frame_Shift_Ins INS - - C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 3 149093465 149093466 - C INS TM4SF1 ENST00000493298 human ensembl 74_37 -1 known frame_shift_ins c.269_268 p.V90fs 1.000:1.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF1 HGNC ENSG00000169908 387 0 0 309 79 20.3608 GFM1 0 genome.wustl.edu 37 3 158364022 158364023 + Frame_Shift_Del DEL TA TA - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 3 158364022 158364023 TA - DEL GFM1 ENST00000486715 human ensembl 74_37 +1 known frame_shift_del c.303_304 p.I102fs 0.937:1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 247 0 0 200 55 21.5686 PRKCI 0 genome.wustl.edu 37 3 169991093 169991099 + Frame_Shift_Del DEL ATCAGTC ATCAGTC - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 ATCAGTC ATCAGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 3 169991093 169991099 ATCAGTC - DEL PRKCI ENST00000295797 human ensembl 74_37 +1 known frame_shift_del c.611_617 p.Q205fs 0.992:0.423:0.811:0.580:0.585:0.625:0.967 pirsf_PKC_zeta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 180 0 0 158 31 16.4021 ITGA9 0 genome.wustl.edu 37 3 37821476 37821477 + Frame_Shift_Ins INS - - ATTT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 3 37821476 37821477 - ATTT INS ITGA9 ENST00000264741 human ensembl 74_37 +1 known frame_shift_ins c.2751_2752 p.M919fs 0.463:0.314 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 246 0 0 161 38 19.0955 SMARCC1 0 genome.wustl.edu 37 3 47730865 47730876 + Splice_Site DEL CTGAATTGTTAC CTGAATTGTTAC - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 CTGAATTGTTAC CTGAATTGTTAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 3 47730865 47730876 CTGAATTGTTAC - DEL SMARCC1 ENST00000254480 human ensembl 74_37 -1 known splice_site_del c.1263+1_1263+1 e13+1 0.000:0.000:0.001:0.004:0.001:0.000:0.000:0.000:0.946:0.999:1.000:1.000 - - - no_errors SMARCC1 HGNC ENSG00000173473 114 0 0 59 14 19.1781 OGG1 0 genome.wustl.edu 37 3 9792012 9792016 + Frame_Shift_Del DEL TACTC TACTC - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 TACTC TACTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 3 9792012 9792016 TACTC - DEL OGG1 ENST00000302036 human ensembl 74_37 +1 known frame_shift_del c.42_46 p.T15fs 0.010:0.097:0.114:0.013:0.011 tigrfam_Ogg pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC ENSG00000114026 73 0 0 54 9 14.2857 TMCO6 0 genome.wustl.edu 37 5 140021540 140021541 + Frame_Shift_Ins INS - - AGCT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 5 140021540 140021541 - AGCT INS TMCO6 ENST00000252100 human ensembl 74_37 +1 known frame_shift_ins c.400_401 p.S136fs 1.000:1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 152 0 0 124 21 14.4828 KIAA0141 0 genome.wustl.edu 37 5 141305001 141305006 + In_Frame_Del DEL GCGGGG GCGGGG - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 GCGGGG GCGGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 5 141305001 141305006 GCGGGG - DEL KIAA0141 ENST00000194118 human ensembl 74_37 +1 known in_frame_del c.173_178 p.GG59in_frame_del 0.002:0.001:0.000:0.003:0.040:0.233 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 236 0 0 126 46 26.7442 RBM27 0 genome.wustl.edu 37 5 145651186 145651187 + Frame_Shift_Ins INS - - GTTGGAG TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 5 145651186 145651187 - GTTGGAG INS RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_ins c.2937_2938 p.F982fs 0.992:0.997 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 171 0 0 138 19 12.1019 CPEB4 0 genome.wustl.edu 37 5 173317464 173317465 + Frame_Shift_Ins INS - - CAGC TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 5 173317464 173317465 - CAGC INS CPEB4 ENST00000265085 human ensembl 74_37 +1 known frame_shift_ins c.728_729 p.H246fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 275 1 0.362319 228 23 9.16335 PPAP2A 0 genome.wustl.edu 37 5 54763747 54763748 + Frame_Shift_Ins INS - - TA TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 5 54763747 54763748 - TA INS PPAP2A ENST00000264775 human ensembl 74_37 -1 known frame_shift_ins c.444_443 p.I149fs 1.000:1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_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 PPAP2A HGNC ENSG00000067113 468 0 0 348 69 16.5468 AGER 0 genome.wustl.edu 37 6 32150159 32150160 + Frame_Shift_Ins INS - - CA TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 6 32150159 32150160 - CA INS AGER ENST00000375070 human ensembl 74_37 -1 known frame_shift_ins c.922_921 p.P307fs 0.002:0.001 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AGER HGNC ENSG00000204305 194 0 0 155 42 21.3198 RELN 0 genome.wustl.edu 37 7 103123344 103123345 + Frame_Shift_Ins INS - - C TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 7 103123344 103123345 - C INS RELN ENST00000424685 human ensembl 74_37 -1 known frame_shift_ins c.10256_10255 p.A3419fs 1.000:1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 233 0 0 184 36 16.3636 TES 0 genome.wustl.edu 37 7 115890233 115890237 + Frame_Shift_Del DEL ATGCT ATGCT - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 ATGCT ATGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 7 115890233 115890237 ATGCT - DEL TES ENST00000358204 human ensembl 74_37 +1 known frame_shift_del c.385_389 p.M129fs 1.000:1.000:1.000:1.000:1.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC ENSG00000135269 159 0 0 109 31 22.1429 UPK3B 0 genome.wustl.edu 37 7 76140366 76140366 + Frame_Shift_Del DEL A A - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 7 76140366 76140366 A - DEL UPK3B ENST00000257632 human ensembl 74_37 +1 known frame_shift_del c.397 p.N133fs 1.000 NULL NULL - no_errors UPK3B HGNC ENSG00000243566 38 0 0 38 5 11.6279 ERI1 0 genome.wustl.edu 37 8 8887408 8887409 + In_Frame_Ins INS - - AGC TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 8 8887408 8887409 - AGC INS ERI1 ENST00000250263 human ensembl 74_37 +1 known in_frame_ins c.914_915 p.307in_frame_insA 1.000:0.982 superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_SAP_dom,superfamily_RNaseH-like_dom,smart_SAP_dom,smart_Exonuclease,pfscan_SAP_dom - no_errors ERI1 HGNC ENSG00000104626 206 0 0 223 31 12.2047 ESRP1 0 genome.wustl.edu 37 8 95705056 95705059 + Splice_Site DEL GTCA GTCA - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 GTCA GTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 8 95705056 95705059 GTCA - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known splice_site_del c.1971+1_1971+1 e14+1 1.000:1.000:1.000:1.000 - - - no_errors ESRP1 HGNC ENSG00000104413 46 0 0 24 5 17.2414 C9orf50 0 genome.wustl.edu 37 9 132375475 132375476 + In_Frame_Ins INS - - GCT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 9 132375475 132375476 - GCT INS C9orf50 ENST00000372478 human ensembl 74_37 -1 known in_frame_ins c.1099_1098 p.366in_frame_insS 0.104:0.005 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 116 0 0 140 18 11.3924 KIAA1984 0 genome.wustl.edu 37 9 139694875 139694876 + Frame_Shift_Ins INS - - AATG TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 9 139694875 139694876 - AATG INS KIAA1984 ENST00000338005 human ensembl 74_37 +1 known frame_shift_ins c.473_474 p.I160fs 0.907:0.001 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 32 0 0 24 6 20 TAF1L 0 genome.wustl.edu 37 9 32633408 32633412 + Frame_Shift_Del DEL TATAA TATAA - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 TATAA TATAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 9 32633408 32633412 TATAA - DEL TAF1L ENST00000242310 human ensembl 74_37 -1 known frame_shift_del c.2170_2166 p.Y722fs 1.000:1.000:1.000:1.000:1.000 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 TAF1L HGNC ENSG00000122728 384 0 0 221 54 19.6364 STOML2 0 genome.wustl.edu 37 9 35102749 35102750 + In_Frame_Ins INS - - AGT TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 9 35102749 35102750 - AGT INS STOML2 ENST00000356493 human ensembl 74_37 -1 known in_frame_ins c.117_116 p.40in_frame_insL 1.000:1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML2 HGNC ENSG00000165283 251 0 0 231 38 14.1264 OR2S2 0 genome.wustl.edu 37 9 35957640 35957642 + In_Frame_Del DEL AAT AAT - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 9 35957640 35957642 AAT - DEL OR2S2 ENST00000341959 human ensembl 74_37 -1 known in_frame_del c.456_454 p.I152in_frame_del 0.001:0.000:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2S2 HGNC ENSG00000122718 191 0 0 144 21 12.7273 WNK2 0 genome.wustl.edu 37 9 96030931 96030932 + Frame_Shift_Ins INS - - T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 9 96030931 96030932 - T INS WNK2 ENST00000297954 human ensembl 74_37 +1 known frame_shift_ins c.3936_3937 p.I1313fs 1.000:1.000 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 WNK2 HGNC ENSG00000165238 49 0 0 49 11 18.3333 G6PD 0 genome.wustl.edu 37 X 153762645 153762652 + Frame_Shift_Del DEL GGACAGCC GGACAGCC - TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 GGACAGCC GGACAGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 X 153762645 153762652 GGACAGCC - DEL G6PD ENST00000369620 human ensembl 74_37 -1 known frame_shift_del c.552_545 p.R182fs 0.971:1.000:1.000:1.000:1.000:0.946:0.189:0.003 pfam_G6P_DH_NAD-bd,pirsf_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 187 0 0 110 24 17.9104 AR 0 genome.wustl.edu 37 X 66766578 66766579 + Frame_Shift_Ins INS - - T TCGA-CG-4477-01A-01D-1158-08 TCGA-CG-4477-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b90e44b2-1ae5-47dd-b979-81612daaf3db 02d6b265-8620-4a55-b3c5-84d930b65532 X 66766578 66766579 - T INS AR ENST00000374690 human ensembl 74_37 +1 known frame_shift_ins c.1590_1591 p.Y530fs 1.000:1.000 NULL pfam_Andrgn_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_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 48 0 0 38 12 24