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 SERPINE3 0 genome.wustl.edu 37 13 51918390 51918390 + Frame_Shift_Del DEL A A - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 13 51918390 51918390 A - DEL SERPINE3 ENST00000521255 human ensembl 74_37 +1 known frame_shift_del c.259 p.R88fs 0.396 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE3 HGNC ENSG00000253309 tier1 18 0 0.00 11 2 15.38 TMEM40 0 genome.wustl.edu 37 3 12790156 12790158 + In_Frame_Del DEL GAG GAG - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 3 12790156 12790158 GAG - DEL TMEM40 ENST00000431022 human ensembl 74_37 -1 known in_frame_del c.257_255 p.S86in_frame_del 1.000:0.999:0.996 NULL NULL - no_errors TMEM40 HGNC ENSG00000088726 tier1 48 0 0.00 22 3 12.00 ENSG00000221741 0 genome.wustl.edu 37 5 167297559 167297560 + R INS - - AT TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 5 167297559 167297560 - AT INS ENSG00000221741 ENST00000408814 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.001 - - - no_errors AC093304.1 Clone_based_ensembl_gene ENSG00000221741 tier1 41 0 0.00 20 3 13.04 OR52L1 0 genome.wustl.edu 37 11 6007450 6007450 + Silent SNP G G A TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 11 6007450 6007450 G A SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known silent c.711 p.A237 0.044 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 tier1 - - 25 0 0.00 14 3 17.65 WDFY3 0 genome.wustl.edu 37 4 85674951 85674951 + Frame_Shift_Del DEL G G - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 4 85674951 85674951 G - DEL WDFY3 ENST00000295888 human ensembl 74_37 -1 known frame_shift_del c.5638 p.H1880fs 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 44 0 0.00 15 2 11.76 TUBB8 0 genome.wustl.edu 37 10 93505 93505 + Missense_Mutation SNP C C T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 10 93505 93505 C T SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known missense c.827 p.R276Q 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 tier1 rs147114528 - 80 0 0.00 50 6 10.71 BLK 0 genome.wustl.edu 37 8 11403586 11403586 + Missense_Mutation SNP C C T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 8 11403586 11403586 C T SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.149 p.P50L 0.056 superfamily_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 tier1 - - 52 0 0.00 41 4 8.89 T10 0 genome.wustl.edu 37 11 34167679 34167679 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 11 34167679 34167679 G T SNP T10 ENST00000257829 human ensembl 74_37 +1 known missense c.3018 p.K1006N 1.000 NULL pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GT_dom - no_errors T10 HGNC ENSG00000135372 tier1 - - 91 0 0.00 40 4 8.89 PRKRIP1 0 genome.wustl.edu 37 7 102065517 102065519 + In_Frame_Del DEL GAG GAG - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 7 102065517 102065519 GAG - DEL PRKRIP1 ENST00000397912 human ensembl 74_37 +1 known in_frame_del c.514_516 p.E175in_frame_del 1.000:1.000:0.998 pfam_DUF1168 pfam_DUF1168 - no_errors PRKRIP1 HGNC ENSG00000128563 tier1 29 0 0.00 16 3 15.79 GGT7 0 genome.wustl.edu 37 20 33432915 33432916 + R INS - - CACCAC TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 20 33432915 33432916 - CACCAC INS GGT7 ENST00000469018 human ensembl 74_37 -1 known rna NULL NULL 0.062:0.008 - - - no_errors GGT7 HGNC ENSG00000131067 tier1 CCDC157 0 genome.wustl.edu 37 22 30769639 30769639 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 22 30769639 30769639 G T SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known missense c.1389 p.Q463H 1.000 NULL superfamily_Prefoldin,superfamily_t-SRE - no_errors CCDC157 HGNC ENSG00000187860 tier1 - - 46 0 0.00 16 3 15.79 ENSG00000222586 0 genome.wustl.edu 37 15 57258577 57258577 + R SNP C C T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 15 57258577 57258577 C T SNP ENSG00000222586 ENST00000410654 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC010999.1 Clone_based_ensembl_gene ENSG00000222586 tier1 - - 29 0 0.00 13 3 18.75 C7 0 genome.wustl.edu 37 5 40958329 40958329 + Silent SNP G G A TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 5 40958329 40958329 G A SNP C7 ENST00000313164 human ensembl 74_37 +1 known silent c.1455 p.A485 0.005 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 tier1 - - 56 0 0.00 44 4 8.33 WDR66 0 genome.wustl.edu 37 12 122359385 122359385 + Frame_Shift_Del DEL C C - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 12 122359385 122359385 C - DEL WDR66 ENST00000288912 human ensembl 74_37 +1 known frame_shift_del c.174 p.E59fs 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 26 0 0.00 14 4 22.22 GUSB 0 genome.wustl.edu 37 7 65445284 65445284 + Missense_Mutation SNP G G A TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 7 65445284 65445284 G A SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.323 p.P108L 1.000 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 tier1 - - 73 0 0.00 35 4 10.26 TRABD 0 genome.wustl.edu 37 22 50635954 50635954 + Missense_Mutation SNP C C T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 22 50635954 50635954 C T SNP TRABD ENST00000303434 human ensembl 74_37 +1 known missense c.608 p.A203V 0.998 pfam_Pheromone_shutdown_TraB pfam_Pheromone_shutdown_TraB - no_errors TRABD HGNC ENSG00000170638 tier1 - - 64 0 0.00 31 4 11.43 ZKSCAN8 0 genome.wustl.edu 37 6 28121013 28121013 + Nonsense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 6 28121013 28121013 G T SNP ZKSCAN8 ENST00000330236 human ensembl 74_37 +1 known nonsense c.955 p.E319* 1.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN8 HGNC ENSG00000198315 tier1 - - 43 0 0.00 46 4 8.00 CDK19 0 genome.wustl.edu 37 6 110943300 110943300 + Frame_Shift_Del DEL T T - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 6 110943300 110943300 T - DEL CDK19 ENST00000368911 human ensembl 74_37 -1 known frame_shift_del c.1101 p.G368fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK19 HGNC ENSG00000155111 tier1 33 0 0.00 22 2 8.33 SUZ12 0 genome.wustl.edu 37 17 30264519 30264519 + Frame_Shift_Del DEL T T - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 17 30264519 30264519 T - DEL SUZ12 ENST00000322652 human ensembl 74_37 +1 known frame_shift_del c.254 p.F86fs 1.000 NULL pfam_Polycomb_protein_VEFS-Box - no_errors SUZ12 HGNC ENSG00000178691 tier1 36 0 0.00 17 3 15.00 KIAA0907 0 genome.wustl.edu 37 1 155893477 155893477 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 1 155893477 155893477 G T SNP KIAA0907 ENST00000368321 human ensembl 74_37 -1 known missense c.895 p.H299N 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 tier1 - - 32 0 0.00 16 3 15.79 UHRF1 0 genome.wustl.edu 37 19 4941605 4941605 + R SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 19 4941605 4941605 G T SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.980 - - - no_errors UHRF1 HGNC ENSG00000034063 tier1 - - 82 0 0.00 43 4 8.51 FAM188B2 0 genome.wustl.edu 37 3 150608765 150608765 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 3 150608765 150608765 G T SNP FAM188B2 ENST00000397891 human ensembl 74_37 -1 known missense c.335 p.A112E 0.054 NULL NULL - no_errors FAM188B2 HGNC ENSG00000214237 tier1 - - 27 0 0.00 20 4 16.67 PLG 0 genome.wustl.edu 37 6 161134305 161134306 + R INS - - T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 6 161134305 161134306 - T INS PLG ENST00000462918 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003 - - - no_errors PLG HGNC ENSG00000122194 tier1 13 0 0.00 9 6 40.00 SF3B1 0 genome.wustl.edu 37 2 198257908 198257908 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 2 198257908 198257908 G T SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.3544 p.L1182I 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 tier1 - - 37 0 0.00 31 4 11.43 SOX5 0 genome.wustl.edu 37 12 23908624 23908624 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 12 23908624 23908624 G T SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.516 p.D172E 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 tier1 - - 60 0 0.00 29 3 9.38 TMEM180 0 genome.wustl.edu 37 10 104233692 104233692 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 10 104233692 104233692 G T SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known missense c.1214 p.G405V 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 tier1 - - 30 0 0.00 14 3 17.65 RBM3 0 genome.wustl.edu 37 X 48434476 48434476 + R SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 X 48434476 48434476 G T SNP RBM3 ENST00000485213 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RBM3 HGNC ENSG00000102317 tier1 - - 23 0 0.00 14 3 17.65 SLC13A3 0 genome.wustl.edu 37 20 45228619 45228619 + Missense_Mutation SNP C C T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 20 45228619 45228619 C T SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known missense c.599 p.S200N 0.988 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 tier1 - - 33 0 0.00 19 4 17.39 RNF144B 0 genome.wustl.edu 37 6 18399888 18399888 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 6 18399888 18399888 G T SNP RNF144B ENST00000259939 human ensembl 74_37 +1 known missense c.123 p.K41N 1.000 smart_Znf_RING pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC - no_errors RNF144B HGNC ENSG00000137393 tier1 - - 22 0 0.00 17 4 19.05 SAP130 0 genome.wustl.edu 37 2 128753978 128753978 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 2 128753978 128753978 G T SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.1379 p.S460Y 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 tier1 - - 46 0 0.00 25 4 13.79 SPHKAP 0 genome.wustl.edu 37 2 228883699 228883699 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 2 228883699 228883699 G T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.1871 p.A624D 0.006 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 48 0 0.00 21 3 12.50 NKIRAS2 0 genome.wustl.edu 37 17 40175789 40175789 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 17 40175789 40175789 G T SNP NKIRAS2 ENST00000307641 human ensembl 74_37 +1 known missense c.454 p.A152S 0.999 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS2 HGNC ENSG00000168256 tier1 - - 74 0 0.00 42 4 8.70 FUT10 0 genome.wustl.edu 37 8 33246610 33246610 + Missense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 8 33246610 33246610 G T SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known missense c.1083 p.N361K 0.991 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 tier1 - - 22 0 0.00 6 3 33.33 HELZ2 0 genome.wustl.edu 37 20 62202920 62202920 + R DEL T T - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 20 62202920 62202920 T - DEL HELZ2 ENST00000479540 human ensembl 74_37 -1 known rna NULL NULL 0.891 - - - no_errors HELZ2 HGNC ENSG00000130589 tier1 32 0 0.00 18 3 14.29 GARNL3 0 genome.wustl.edu 37 9 130095397 130095397 + Frame_Shift_Del DEL A A - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 9 130095397 130095397 A - DEL GARNL3 ENST00000373387 human ensembl 74_37 +1 known frame_shift_del c.766 p.N257fs 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 tier1 34 0 0.00 19 2 9.52 ETHE1 0 genome.wustl.edu 37 19 44031264 44031264 + Frame_Shift_Del DEL G G - TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 19 44031264 44031264 G - DEL ETHE1 ENST00000292147 human ensembl 74_37 -1 known frame_shift_del c.66 p.I23fs 0.785 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC ENSG00000105755 tier1 22 0 0.00 9 2 18.18 SFMBT1 0 genome.wustl.edu 37 3 52941739 52941739 + Nonsense_Mutation SNP G G T TCGA-DX-AB2L-01A-32D-A417-09 TCGA-DX-AB2L-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 51b936bb-a69b-4ab5-81d6-542886686ed7 95900dfa-7dfd-4dfb-b86d-6d47974ffa61 3 52941739 52941739 G T SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known nonsense c.1917 p.Y639* 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 tier1 - - 82 0 0.00 54 5 8.47