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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val MIR342 0 genome.wustl.edu 37 14 100576061 100576061 + R SNP G G C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 14 100576061 100576061 G C SNP MIR342 ENST00000362212 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR342 HGNC ENSG00000199082 tier1 - - 31 0 0.00 40 4 9.09 DOCK10 0 genome.wustl.edu 37 2 225659678 225659678 + Missense_Mutation SNP G G A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 2 225659678 225659678 G A SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.5072 p.S1691F 1.000 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 tier1 - - 67 0 0.00 39 15 27.78 MUC12 0 genome.wustl.edu 37 7 100643080 100643080 + Missense_Mutation SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 7 100643080 100643080 C T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.9236 p.T3079M 0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 rs139875131 - 11 0 0.00 7 3 30.00 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74929214 74929214 + Missense_Mutation SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 1 74929214 74929214 G T SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2443 p.G815W 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_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,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,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 43 0 0.00 35 4 10.26 C6orf89 0 genome.wustl.edu 37 6 36891153 36891153 + Missense_Mutation SNP A A G TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 6 36891153 36891153 A G SNP C6orf89 ENST00000355190 human ensembl 74_37 +1 known missense c.1001 p.Y334C 0.860 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 tier1 - - 42 0 0.00 7 24 77.42 LONRF2 0 genome.wustl.edu 37 2 100900776 100900776 + Missense_Mutation SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 2 100900776 100900776 C T SNP LONRF2 ENST00000393437 human ensembl 74_37 -1 known missense c.2249 p.R750K 0.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 tier1 - - 49 0 0.00 18 41 69.49 ZNF330 0 genome.wustl.edu 37 4 142153779 142153779 + Missense_Mutation SNP A A G TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 4 142153779 142153779 A G SNP ZNF330 ENST00000262990 human ensembl 74_37 +1 known missense c.671 p.K224R 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 tier1 - - 77 0 0.00 53 49 48.04 CCNDBP1 0 genome.wustl.edu 37 15 43482568 43482568 + Missense_Mutation SNP G G C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 15 43482568 43482568 G C SNP CCNDBP1 ENST00000568507 human ensembl 74_37 +1 known missense c.377 p.R126P 0.000 NULL NULL - no_errors CCNDBP1 HGNC ENSG00000166946 tier1 - - 63 0 0.00 8 35 81.40 EIF2AK4 0 genome.wustl.edu 37 15 40284991 40284991 + Missense_Mutation SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 15 40284991 40284991 G T SNP EIF2AK4 ENST00000263791 human ensembl 74_37 +1 known missense c.2708 p.G903V 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 tier1 - - 58 0 0.00 40 4 9.09 MEI4 0 genome.wustl.edu 37 6 78400413 78400413 + Missense_Mutation SNP A A G TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 6 78400413 78400413 A G SNP MEI4 ENST00000602452 human ensembl 74_37 +1 novel missense c.25 p.R9G 1.000 NULL NULL - no_errors MEI4 HGNC ENSG00000269964 tier1 - - 58 0 0.00 16 36 69.23 DPY19L2P4 0 genome.wustl.edu 37 7 89754242 89754242 + R DEL T T - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 7 89754242 89754242 T - DEL DPY19L2P4 ENST00000497063 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors DPY19L2P4 HGNC ENSG00000235436 tier1 9 0 0.00 4 18 81.82 TAF1L 0 genome.wustl.edu 37 9 32632679 32632679 + Missense_Mutation SNP G G C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 9 32632679 32632679 G C SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.2899 p.L967V 0.999 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 tier1 - - 78 0 0.00 37 25 40.32 VSIG10L 0 genome.wustl.edu 37 19 51840497 51840497 + Missense_Mutation SNP C C A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 19 51840497 51840497 C A SNP VSIG10L ENST00000335624 human ensembl 74_37 -1 novel missense c.2300 p.R767L 0.139 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG10L HGNC ENSG00000186806 tier1 - - 52 0 0.00 37 4 9.76 ENSG00000224363 0 genome.wustl.edu 37 1 144090814 144090814 + R SNP T T C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 1 144090814 144090814 T C SNP ENSG00000224363 ENST00000441760 human ensembl 74_37 -1 known rna NULL NULL 0.859 - - - no_errors RP11-289H16.1 Clone_based_vega_gene ENSG00000224363 tier1 - - 181 1 0.55 99 9 8.33 PPP2R2B 0 genome.wustl.edu 37 5 146080608 146080608 + Silent SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 5 146080608 146080608 C T SNP PPP2R2B ENST00000394414 human ensembl 74_37 -1 known silent c.366 p.E122 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 tier1 - - 59 0 0.00 44 14 24.14 KLHL22 0 genome.wustl.edu 37 22 20819155 20819155 + Silent SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 22 20819155 20819155 G T SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known silent c.1102 p.R368 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,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 KLHL22 HGNC ENSG00000099910 tier1 - - 33 0 0.00 18 3 14.29 HERC2P3 0 genome.wustl.edu 37 15 20649520 20649520 + R SNP T T C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 15 20649520 20649520 T C SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.925 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 247 0 0.00 81 54 40.00 TACC2 0 genome.wustl.edu 37 10 123954634 123954634 + Frame_Shift_Del DEL C C - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 10 123954634 123954634 C - DEL TACC2 ENST00000334433 human ensembl 74_37 +1 known frame_shift_del c.5914 p.E1974fs 0.994 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 42 0 0.00 23 2 8.00 CORO1C 0 genome.wustl.edu 37 12 109095036 109095036 + Missense_Mutation SNP T T C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 12 109095036 109095036 T C SNP CORO1C ENST00000420959 human ensembl 74_37 -1 known missense c.218 p.N73S 1.000 pfam_DUF1899 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1C HGNC ENSG00000110880 tier1 - - 46 0 0.00 17 27 61.36 ZBTB20 0 genome.wustl.edu 37 3 114057869 114057869 + Missense_Mutation SNP G G A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 3 114057869 114057869 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.2209 p.H737Y 1.000 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 ZBTB20 HGNC ENSG00000181722 tier1 - - 48 0 0.00 38 4 9.52 WASH3P 0 genome.wustl.edu 37 15 102514186 102514186 + R SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 15 102514186 102514186 C T SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 rs76042271 - 61 0 0.00 12 2 14.29 GSX1 0 genome.wustl.edu 37 13 28367862 28367862 + Missense_Mutation SNP T T A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 13 28367862 28367862 T A SNP GSX1 ENST00000302945 human ensembl 74_37 +1 known missense c.572 p.V191E 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GSX1 HGNC ENSG00000169840 tier1 - - 36 0 0.00 30 12 28.57 ENSG00000245156 0 genome.wustl.edu 37 11 66039142 66039143 + R INS - - A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 11 66039142 66039143 - A INS ENSG00000245156 ENST00000501708 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.020 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 tier1 25 0 0.00 13 4 23.53 IDE 0 genome.wustl.edu 37 10 94228696 94228696 + Missense_Mutation SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 10 94228696 94228696 G T SNP IDE ENST00000265986 human ensembl 74_37 -1 known missense c.2260 p.H754N 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 tier1 - - 75 0 0.00 6 41 87.23 FUBP1 0 genome.wustl.edu 37 1 78426184 78426185 + R INS - - A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 1 78426184 78426185 - A INS FUBP1 ENST00000470287 human ensembl 74_37 -1 known rna NULL NULL 0.209:0.567 - - - no_errors FUBP1 HGNC ENSG00000162613 tier1 27 0 0.00 30 3 9.09 PAPD5 0 genome.wustl.edu 37 16 50263703 50263703 + R SNP A A T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 16 50263703 50263703 A T SNP PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 0.127 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 - - 53 0 0.00 44 4 8.33 FAM182A 0 genome.wustl.edu 37 20 26061831 26061831 + R DEL G G - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 20 26061831 26061831 G - DEL FAM182A ENST00000376398 human ensembl 74_37 +1 known rna NULL NULL 0.232 - - - no_errors FAM182A HGNC ENSG00000125804 tier1 39 0 0.00 29 9 23.68 DRP2 0 genome.wustl.edu 37 X 100509889 100509889 + Missense_Mutation SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 X 100509889 100509889 C T SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.2156 p.S719F 1.000 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 tier1 - - 20 0 0.00 13 5 27.78 ENSG00000257434 0 genome.wustl.edu 37 12 75435998 75435999 + R DEL TA TA - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 12 75435998 75435999 TA - DEL ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 27 0 0.00 22 3 12.00 TAF1L 0 genome.wustl.edu 37 9 32633008 32633008 + Missense_Mutation SNP G G A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 9 32633008 32633008 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.2570 p.S857L 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 tier1 - - 68 0 0.00 72 31 30.10 PTHLH 0 genome.wustl.edu 37 12 28114897 28114898 + Frame_Shift_Ins INS - - T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 12 28114897 28114898 - T INS PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_ins c.558_557 p.E187fs 0.126:0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 tier1 31 0 0.00 38 9 19.15 DH7 0 genome.wustl.edu 37 2 196619234 196619234 + Missense_Mutation SNP C C A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 2 196619234 196619234 C A SNP DH7 ENST00000312428 human ensembl 74_37 -1 known missense c.11591 p.W3864L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DH7 HGNC ENSG00000118997 tier1 - - 67 0 0.00 62 24 27.91 SH3BP5-AS1 0 genome.wustl.edu 37 3 15297083 15297083 + R DEL T T - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 3 15297083 15297083 T - DEL SH3BP5-AS1 ENST00000420195 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors SH3BP5-AS1 HGNC ENSG00000224660 tier1 28 0 0.00 16 3 15.79 T 0 genome.wustl.edu 37 6 166571913 166571913 + Missense_Mutation SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 6 166571913 166571913 G T SNP T ENST00000296946 human ensembl 74_37 -1 known missense c.1198 p.L400M 0.030 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 tier1 - - 72 0 0.00 16 44 73.33 PRIM2 0 genome.wustl.edu 37 6 57512787 57512788 + R INS - - CACCAAGGC TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 6 57512787 57512788 - CACCAAGGC INS PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.057:0.034 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 ZNF704 0 genome.wustl.edu 37 8 81571895 81571895 + Silent SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 8 81571895 81571895 C T SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known silent c.957 p.S319 0.000 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 tier1 - - 109 0 0.00 70 21 23.08 HP 0 genome.wustl.edu 37 16 72093094 72093095 + Frame_Shift_Ins INS - - CTGAGCA TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 16 72093094 72093095 - CTGAGCA INS HP ENST00000569639 human ensembl 74_37 +1 putative frame_shift_ins c.272_273 p.*93fs 0.001:0.000 NULL superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors HP HGNC ENSG00000257017 tier1 ENSG00000237452 0 genome.wustl.edu 37 19 46265047 46265048 + In_Frame_Ins INS - - TCCAGC TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 19 46265047 46265048 - TCCAGC INS ENSG00000237452 ENST00000457052 human ensembl 74_37 +1 putative in_frame_ins c.1356_1357 p.456in_frame_insSS 0.000:0.004 NULL pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 tier1 TBX5 0 genome.wustl.edu 37 12 114793374 114793374 + Missense_Mutation SNP C C A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 12 114793374 114793374 C A SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.1520 p.G507V 0.996 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 34 0 0.00 28 9 24.32 RABGGTB 0 genome.wustl.edu 37 1 76259678 76259714 + R DEL CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 1 76259678 76259714 CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT - DEL RABGGTB ENST00000459697 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.001:0.001:0.000:0.002:0.005:0.008:0.009:0.007:0.005:0.003:0.003:0.001:0.001:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000 - - - no_errors RABGGTB HGNC ENSG00000137955 tier1 PINLYP 0 genome.wustl.edu 37 19 44085493 44085493 + Missense_Mutation SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 19 44085493 44085493 G T SNP PINLYP ENST00000562255 human ensembl 74_37 +1 known missense c.53 p.G18V 0.950 NULL pfam_LY6_UPAR - no_errors PINLYP HGNC ENSG00000234465 tier1 - - 40 0 0.00 33 4 10.81 MIR3156-3 0 genome.wustl.edu 37 21 14778707 14778707 + R SNP C C G TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 21 14778707 14778707 C G SNP MIR3156-3 ENST00000580304 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3156-3 HGNC ENSG00000266211 tier1 - - 79 0 0.00 13 46 77.97 KIAA1875 0 genome.wustl.edu 37 8 145162757 145162757 + Frame_Shift_Del DEL A A - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 8 145162757 145162757 A - DEL KIAA1875 ENST00000534167 human ensembl 74_37 +1 known frame_shift_del c.104 p.K36fs 0.010 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 KIAA1875 HGNC ENSG00000179698 tier1 26 0 0.00 23 2 8.00 KANSL3 0 genome.wustl.edu 37 2 97276511 97276511 + Missense_Mutation SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 2 97276511 97276511 C T SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known missense c.1271 p.R424Q 0.995 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 tier1 - - 49 0 0.00 20 21 51.22 MAN1B1 0 genome.wustl.edu 37 9 139998211 139998212 + R DEL GT GT - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 9 139998211 139998212 GT - DEL MAN1B1 ENST00000540391 human ensembl 74_37 +1 known rna NULL NULL 0.513:0.732 - - - no_errors MAN1B1 HGNC ENSG00000177239 tier1 24 0 0.00 24 20 45.45 GALK1 0 genome.wustl.edu 37 17 73754413 73754413 + Missense_Mutation SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 17 73754413 73754413 C T SNP GALK1 ENST00000437911 human ensembl 74_37 -1 known missense c.1075 p.V359M 1.000 pfam_GHMP_kinase_C_dom,pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 tier1 - - 21 0 0.00 12 3 20.00 RTKN2 0 genome.wustl.edu 37 10 64022582 64022583 + Splice_Site INS - - A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 10 64022582 64022583 - A INS RTKN2 ENST00000373789 human ensembl 74_37 -1 known splice_site_ins c.61-3_61-2 e2-2 1.000:0.881 - - - no_errors RTKN2 HGNC ENSG00000182010 tier1 30 0 0.00 22 5 18.52 GMPPA 0 genome.wustl.edu 37 2 220371491 220371491 + Nonsense_Mutation SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 2 220371491 220371491 C T SNP GMPPA ENST00000313597 human ensembl 74_37 +1 known nonsense c.1234 p.R412* 1.000 NULL pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 tier1 - - 67 0 0.00 40 22 35.48 DYTN 0 genome.wustl.edu 37 2 207530749 207530749 + Missense_Mutation SNP G G A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 2 207530749 207530749 G A SNP DYTN ENST00000452335 human ensembl 74_37 -1 known missense c.985 p.L329F 0.930 NULL pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 tier1 - - 77 0 0.00 31 38 55.07 TAF1L 0 genome.wustl.edu 37 9 32632655 32632655 + Missense_Mutation SNP G G A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 9 32632655 32632655 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.2923 p.P975S 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 tier1 - - 75 0 0.00 43 27 38.57 LPAL2 0 genome.wustl.edu 37 6 160899631 160899631 + R SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 6 160899631 160899631 C T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 - - 53 0 0.00 30 4 11.76 MIER3 0 genome.wustl.edu 37 5 56219632 56219632 + Missense_Mutation SNP T T A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 5 56219632 56219632 T A SNP MIER3 ENST00000381199 human ensembl 74_37 -1 known missense c.1081 p.T361S 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 tier1 - - 71 0 0.00 52 32 38.10 SMARCA5 0 genome.wustl.edu 37 4 144449085 144449085 + Missense_Mutation SNP T T C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 4 144449085 144449085 T C SNP SMARCA5 ENST00000283131 human ensembl 74_37 +1 known missense c.866 p.M289T 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 tier1 - - 88 0 0.00 71 62 46.62 HLA-DPB2 0 genome.wustl.edu 37 6 33084812 33084812 + R SNP A A G TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 6 33084812 33084812 A G SNP HLA-DPB2 ENST00000435074 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors HLA-DPB2 HGNC ENSG00000224557 tier1 - - 58 0 0.00 42 6 12.50 C22orf43 0 genome.wustl.edu 37 22 23964283 23964285 + In_Frame_Del DEL CAT CAT - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 22 23964283 23964285 CAT - DEL C22orf43 ENST00000317749 human ensembl 74_37 -1 known in_frame_del c.379_377 p.D126in_frame_del 0.003:0.003:0.004 NULL NULL - no_errors C22orf43 HGNC ENSG00000189269 tier1 31 0 0.00 13 8 38.10 MTA3 0 genome.wustl.edu 37 2 42808937 42808937 + Missense_Mutation SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 2 42808937 42808937 G T SNP MTA3 ENST00000430763 human ensembl 74_37 +1 known missense c.203 p.R68L 0.002 pfscan_BAH_dom pfam_BAH_dom,pfscan_BAH_dom - no_errors MTA3 HGNC ENSG00000057935 tier1 - - 43 0 0.00 40 4 9.09 TAF1L 0 genome.wustl.edu 37 9 32632965 32632965 + Silent SNP G G A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 9 32632965 32632965 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known silent c.2613 p.F871 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 tier1 - - 61 0 0.00 61 25 29.07 KP3 0 genome.wustl.edu 37 13 50275994 50275994 + Missense_Mutation SNP C C G TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 13 50275994 50275994 C G SNP KP3 ENST00000261667 human ensembl 74_37 -1 known missense c.1508 p.G503A 1.000 NULL pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KP3 HGNC ENSG00000102753 tier1 - - 50 0 0.00 38 15 28.30 NUDT12 0 genome.wustl.edu 37 5 102891772 102891772 + Missense_Mutation SNP A A C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 5 102891772 102891772 A C SNP NUDT12 ENST00000230792 human ensembl 74_37 -1 known missense c.824 p.L275R 1.000 pfam_DH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_DH_PPase,pfam_DH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NUDT12 HGNC ENSG00000112874 tier1 - - 33 0 0.00 15 21 58.33 C10orf112 0 genome.wustl.edu 37 10 19778020 19778020 + Silent SNP G G A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 10 19778020 19778020 G A SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known silent c.3045 p.E1015 0.001 NULL pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 66 0 0.00 40 6 13.04 C1orf101 0 genome.wustl.edu 37 1 244640895 244640895 + Missense_Mutation SNP C C A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 1 244640895 244640895 C A SNP C1orf101 ENST00000366534 human ensembl 74_37 +1 novel missense c.167 p.T56N 0.007 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 tier1 - - 87 0 0.00 67 11 14.10 MANSC1 0 genome.wustl.edu 37 12 12483640 12483640 + Missense_Mutation SNP C C A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 12 12483640 12483640 C A SNP MANSC1 ENST00000535902 human ensembl 74_37 -1 known missense c.617 p.S206I 0.000 NULL pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC1 HGNC ENSG00000111261 tier1 - - 69 0 0.00 79 18 18.56 ENSG00000252258 0 genome.wustl.edu 37 18 3025549 3025549 + R SNP T T A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 18 3025549 3025549 T A SNP ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.004 - - - no_errors SNORA70 RFAM ENSG00000252258 tier1 - - 9 0 0.00 7 7 50.00 PATZ1 0 genome.wustl.edu 37 22 31740562 31740562 + Missense_Mutation SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 22 31740562 31740562 C T SNP PATZ1 ENST00000266269 human ensembl 74_37 -1 known missense c.1027 p.D343N 0.998 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 tier1 - - 73 0 0.00 13 28 68.29 XYLT1 0 genome.wustl.edu 37 16 17451890 17451890 + Silent SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 16 17451890 17451890 C T SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known silent c.381 p.P127 0.190 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 tier1 - - 120 0 0.00 19 55 73.33 TP53 0 genome.wustl.edu 37 17 7579296 7579331 + Splice_Site DEL CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 17 7579296 7579331 CCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGG - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site_del c.375+21_375+1 e4-1 0.000:0.000:0.000:0.098:0.375:0.705:0.810:0.818:0.907:0.921:0.997:1.000:1.000:0.991:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.960:0.999:0.998:0.949:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 GAPVD1 0 genome.wustl.edu 37 9 128025963 128025989 + Splice_Site DEL CAGCACTCCATCTGTAGGTATGTCTGT CAGCACTCCATCTGTAGGTATGTCTGT - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 CAGCACTCCATCTGTAGGTATGTCTGT CAGCACTCCATCTGTAGGTATGTCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 9 128025963 128025989 CAGCACTCCATCTGTAGGTATGTCTGT - DEL GAPVD1 ENST00000469528 human ensembl 74_37 +1 known splice_site_del c.NULL NULL 1.000:1.000:1.000:1.000:1.000:0.999:0.996:0.980:0.970:0.963:0.961:0.959:0.952:0.948:0.947:0.950:0.961:0.966:0.966:0.969:0.974:0.982:0.984:0.985:0.984:0.985:0.993 - - - no_errors GAPVD1 HGNC ENSG00000165219 tier1 ANO5 0 genome.wustl.edu 37 11 22242681 22242681 + Silent SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 11 22242681 22242681 C T SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known silent c.219 p.F73 0.994 NULL pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 60 0 0.00 8 22 73.33 UBBP4 0 genome.wustl.edu 37 17 21730946 21730946 + Missense_Mutation SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 17 21730946 21730946 C T SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative missense c.248 p.T83I 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 tier1 - - 73 0 0.00 45 38 45.78 BCRP2 0 genome.wustl.edu 37 22 21475923 21475923 + R SNP G G A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 22 21475923 21475923 G A SNP BCRP2 ENST00000461808 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors BCRP2 HGNC ENSG00000169668 tier1 - - 26 0 0.00 11 5 31.25 CA5BP1 0 genome.wustl.edu 37 X 15721279 15721279 + R SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 X 15721279 15721279 C T SNP CA5BP1 ENST00000380333 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CA5BP1 HGNC ENSG00000186312 tier1 - - 41 0 0.00 19 18 48.65 BFAR 0 genome.wustl.edu 37 16 14738206 14738206 + Missense_Mutation SNP G G A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 16 14738206 14738206 G A SNP BFAR ENST00000261658 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 tier1 - - 66 0 0.00 6 20 76.92 MVB12B 0 genome.wustl.edu 37 9 129243626 129243627 + R INS - - T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 9 129243626 129243627 - T INS MVB12B ENST00000485886 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors MVB12B HGNC ENSG00000196814 tier1 20 0 0.00 31 4 11.43 VEZF1 0 genome.wustl.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 17 56056605 56056607 TGC - DEL VEZF1 ENST00000581208 human ensembl 74_37 -1 known in_frame_del c.1046_1044 p.Q352in_frame_del 0.940:0.945:0.948 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 tier1 44 0 0.00 29 4 12.12 PITPNM3 0 genome.wustl.edu 37 17 6380417 6380417 + Silent SNP C C T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 17 6380417 6380417 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.1017 p.P339 0.007 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 tier1 - - 23 0 0.00 20 19 48.72 MT-ND5 0 genome.wustl.edu 37 MT 12418 12418 + Frame_Shift_Del DEL A A - TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 MT 12418 12418 A - DEL MT-ND5 ENST00000361567 human ensembl 74_37 +1 known frame_shift_del c.82 p.N30fs NULL tigrfam_DHpl_OxRdtase_5 pfam_DH_UbQ/plastoQ_OxRdtase,pfam_DH_DH_su5_C,pfam_DH_UbQ_OxRdtase_chain5/L_N,tigrfam_DHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 40 0 0.00 7 8 53.33 ZNF800 0 genome.wustl.edu 37 7 127013660 127013660 + Missense_Mutation SNP G G A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 7 127013660 127013660 G A SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known missense c.1730 p.P577L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 tier1 - - 67 0 0.00 6 46 88.46 VWF 0 genome.wustl.edu 37 12 6078426 6078426 + Silent SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 12 6078426 6078426 G T SNP VWF ENST00000261405 human ensembl 74_37 -1 known silent c.7680 p.G2560 1.000 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 tier1 - - 47 0 0.00 28 42 60.00 DENND2C 0 genome.wustl.edu 37 1 115130449 115130449 + Missense_Mutation SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 1 115130449 115130449 G T SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.2556 p.F852L 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom 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 DENND2C HGNC ENSG00000175984 tier1 - - 58 0 0.00 44 4 8.33 TAF1L 0 genome.wustl.edu 37 9 32632977 32632977 + Silent SNP G G C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 9 32632977 32632977 G C SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known silent c.2601 p.L867 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 tier1 - - 59 0 0.00 57 28 32.94 CCDC63 0 genome.wustl.edu 37 12 111311658 111311659 + Frame_Shift_Ins INS - - A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 12 111311658 111311659 - A INS CCDC63 ENST00000308208 human ensembl 74_37 +1 known frame_shift_ins c.382_383 p.I131fs 0.975:0.872 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 tier1 55 0 0.00 50 5 9.09 EFEMP2 0 genome.wustl.edu 37 11 65637630 65637630 + Missense_Mutation SNP G G C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 11 65637630 65637630 G C SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known missense c.569 p.P190R 0.997 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,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 tier1 - - 55 0 0.00 12 29 70.73 MT-CO1 0 genome.wustl.edu 37 MT 6656 6656 + Missense_Mutation SNP C C A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 MT 6656 6656 C A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.753 p.F251L NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 36 0 0.00 10 2 16.67 SLC35G1 0 genome.wustl.edu 37 10 95660526 95660526 + Missense_Mutation SNP C C A TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 10 95660526 95660526 C A SNP SLC35G1 ENST00000427197 human ensembl 74_37 +1 known missense c.377 p.P126Q 1.000 pfam_DMT pfam_DMT - no_errors SLC35G1 HGNC ENSG00000176273 tier1 - - 36 0 0.00 20 4 16.67 DH11 0 genome.wustl.edu 37 7 21603913 21603913 + Silent SNP A A G TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 7 21603913 21603913 A G SNP DH11 ENST00000328843 human ensembl 74_37 +1 known silent c.1092 p.L364 0.925 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH11 HGNC ENSG00000105877 tier1 - - 55 0 0.00 76 14 15.56 SP6 0 genome.wustl.edu 37 17 45924895 45924895 + Missense_Mutation SNP G G T TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 a5c60f83-e78d-427a-a555-336d753b9798 0a67fd48-b06f-407d-a340-b59e67c4b9c4 17 45924895 45924895 G T SNP SP6 ENST00000342234 human ensembl 74_37 -1 known missense c.901 p.L301M 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 tier1 - - 51 0 0.00 35 7 16.67