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 TUBA4B 0 genome.wustl.edu 37 2 220136303 220136303 + R SNP C C T TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 2 220136303 220136303 C T SNP TUBA4B ENST00000473885 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBA4B HGNC ENSG00000243910 tier1 - - 114 1 0.87 56 47 45.63 56 0 0.00 29 26 47.27 TCHH 0 genome.wustl.edu 37 1 152085283 152085283 + Missense_Mutation SNP C C T TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 1 152085283 152085283 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.410 p.R137H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 51 0 0.00 15 18 54.55 79 0 0.00 30 38 55.88 DERA 0 genome.wustl.edu 37 12 16189290 16189290 + Missense_Mutation SNP C C T TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 12 16189290 16189290 C T SNP DERA ENST00000428559 human ensembl 74_37 +1 known missense c.875 p.T292I 0.979 pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC,tigrfam_DeoC - no_errors DERA HGNC ENSG00000023697 tier1 - - 45 0 0.00 18 23 56.10 83 0 0.00 34 25 42.37 LYRM2 0 genome.wustl.edu 37 6 90347454 90347454 + Missense_Mutation SNP T T A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 6 90347454 90347454 T A SNP LYRM2 ENST00000520441 human ensembl 74_37 -1 putative missense c.193 p.T65S 0.192 NULL pfam_Complex1_LYR - no_errors LYRM2 HGNC ENSG00000083099 tier1 - - 75 0 0.00 24 35 59.32 133 0 0.00 43 26 37.14 SNX33 0 genome.wustl.edu 37 15 75942421 75942421 + Nonsense_Mutation SNP C C G TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 15 75942421 75942421 C G SNP SNX33 ENST00000308527 human ensembl 74_37 +1 known nonsense c.978 p.Y326* 0.267 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_Snx9,pfscan_Phox pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 tier1 - - 68 0 0.00 19 17 45.95 57 0 0.00 20 16 44.44 GPM6A 0 genome.wustl.edu 37 4 176556169 176556169 + Missense_Mutation SNP C C A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 4 176556169 176556169 C A SNP GPM6A ENST00000280187 human ensembl 74_37 -1 known missense c.724 p.V242L 1.000 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC ENSG00000150625 tier1 rs1049820 - 20 0 0.00 3 9 75.00 52 0 0.00 50 31 38.27 TMEM74 0 genome.wustl.edu 37 8 109797134 109797134 + Missense_Mutation SNP G G A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 8 109797134 109797134 G A SNP TMEM74 ENST00000297459 human ensembl 74_37 -1 known missense c.194 p.A65V 0.000 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 tier1 - - 72 0 0.00 44 34 43.59 113 0 0.00 45 36 44.44 ACOX2 0 genome.wustl.edu 37 3 58514611 58514611 + Nonsense_Mutation SNP A A C TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 3 58514611 58514611 A C SNP ACOX2 ENST00000302819 human ensembl 74_37 -1 known nonsense c.1065 p.Y355* 0.874 superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 tier1 - - 97 0 0.00 29 33 53.23 134 0 0.00 56 45 44.12 PDE4DIP 0 genome.wustl.edu 37 1 144868067 144868067 + Missense_Mutation SNP C C G TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 1 144868067 144868067 C G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.5372 p.R1791T 0.013 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 153 0 0.00 118 27 18.62 108 1 0.90 76 27 26.21 SNORD32B 0 genome.wustl.edu 37 6 29550086 29550086 + R SNP C C G TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 6 29550086 29550086 C G SNP SNORD32B ENST00000364460 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors SNORD32B HGNC ENSG00000201330 tier1 - - 196 0 0.00 72 56 43.75 56 0 0.00 36 22 37.93 OR10C1 0 genome.wustl.edu 37 6 29408456 29408456 + Missense_Mutation SNP G G T TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 6 29408456 29408456 G T SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known missense c.664 p.V222F 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10C1 HGNC ENSG00000206474 tier1 - - 61 0 0.00 18 22 55.00 73 0 0.00 50 32 39.02 KIAA0195 0 genome.wustl.edu 37 17 73484164 73484164 + Silent SNP C C T TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 17 73484164 73484164 C T SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known silent c.561 p.I187 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 tier1 - - 84 0 0.00 45 37 45.12 80 0 0.00 39 34 45.95 RXFP2 0 genome.wustl.edu 37 13 32356836 32356836 + Missense_Mutation SNP G G T TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 13 32356836 32356836 G T SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.881 p.G294V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 tier1 - - 75 0 0.00 38 26 40.62 75 0 0.00 48 45 48.39 LAMB1 0 genome.wustl.edu 37 7 107601660 107601660 + Silent SNP C C T TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 7 107601660 107601660 C T SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.2100 p.L700 0.963 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SRE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 81 0 0.00 35 19 35.19 51 0 0.00 41 17 29.31 SLC26A6 0 genome.wustl.edu 37 3 48667882 48667882 + Missense_Mutation SNP C C A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 3 48667882 48667882 C A SNP SLC26A6 ENST00000395550 human ensembl 74_37 -1 known missense c.1315 p.D439Y 0.079 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 tier1 - - 92 0 0.00 35 29 45.31 106 0 0.00 45 41 47.67 PRR14L 0 genome.wustl.edu 37 22 32108558 32108558 + Missense_Mutation SNP G G A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 22 32108558 32108558 G A SNP PRR14L ENST00000397493 human ensembl 74_37 -1 known missense c.5267 p.P1756L 0.001 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 tier1 - - 32 0 0.00 13 14 51.85 48 0 0.00 40 18 31.03 NPAS4 0 genome.wustl.edu 37 11 66192048 66192048 + Missense_Mutation SNP G G A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 11 66192048 66192048 G A SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.1687 p.A563T 0.933 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 tier1 - - 39 0 0.00 18 18 50.00 164 0 0.00 83 51 38.06 CAC1A 0 genome.wustl.edu 37 19 13410084 13410084 + Missense_Mutation SNP G G C TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 19 13410084 13410084 G C SNP CAC1A ENST00000360228 human ensembl 74_37 -1 known missense c.2363 p.A788G 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CAC1A HGNC ENSG00000141837 tier1 - - 73 0 0.00 33 30 47.62 35 0 0.00 18 12 40.00 TMEM14B 0 genome.wustl.edu 37 6 10750123 10750123 + R SNP G G T TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 6 10750123 10750123 G T SNP TMEM14B ENST00000492297 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors TMEM14B HGNC ENSG00000137210 tier1 - - 11 0 0.00 2 8 80.00 74 0 0.00 28 22 44.00 ROBO2 0 genome.wustl.edu 37 3 77614263 77614263 + Missense_Mutation SNP G G A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 3 77614263 77614263 G A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.1841 p.R614H 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 97 0 0.00 32 45 58.44 119 0 0.00 63 29 31.52 COLGALT1 0 genome.wustl.edu 37 19 17679325 17679325 + Missense_Mutation SNP A A G TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 19 17679325 17679325 A G SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known missense c.632 p.Y211C 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 tier1 - - 44 0 0.00 22 22 50.00 93 0 0.00 44 26 37.14 PANK4 0 genome.wustl.edu 37 1 2453358 2453358 + Frame_Shift_Del DEL G G - TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 1 2453358 2453358 G - DEL PANK4 ENST00000502770 human ensembl 74_37 -1 known frame_shift_del c.147 p.K50fs 0.000 NULL NULL - no_errors PANK4 HGNC ENSG00000157881 tier1 52 0 0.00 16 12 42.86 130 0 0.00 53 58 52.25 PCDH11Y 0 genome.wustl.edu 37 Y 4925493 4925493 + Missense_Mutation SNP T T A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 Y 4925493 4925493 T A SNP PCDH11Y ENST00000215473 human ensembl 74_37 +1 known missense c.629 p.L210Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11Y HGNC ENSG00000099715 tier1 - - 107 0 0.00 1 98 98.99 51 0 0.00 5 62 91.18 TRPC7 0 genome.wustl.edu 37 5 135692561 135692561 + Missense_Mutation SNP G G A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 5 135692561 135692561 G A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.515 p.A172V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 tier1 - - 27 0 0.00 13 9 40.91 23 1 4.17 12 10 45.45 OBSCN 0 genome.wustl.edu 37 1 228494137 228494137 + Silent SNP C C A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 1 228494137 228494137 C A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.11724 p.T3908 0.006 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 24 0 0.00 6 8 57.14 7 0 0.00 3 1 25.00 KCNB1 0 genome.wustl.edu 37 20 48098845 48098845 + Missense_Mutation SNP C C A TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 20 48098845 48098845 C A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known missense c.173 p.G58V 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 tier1 - - 31 0 0.00 17 4 19.05 4 0 0.00 9 0 0.00 LOR 0 genome.wustl.edu 37 1 153233991 153233992 + In_Frame_Ins INS - - CTCTGGCGGCGG TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 1 153233991 153233992 - CTCTGGCGGCGG INS LOR ENST00000368742 human ensembl 74_37 +1 known in_frame_ins c.566_567 p.193in_frame_insGSGG 0.014:0.200 NULL NULL - no_errors LOR HGNC ENSG00000203782 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00 RALGAPA1 0 genome.wustl.edu 37 14 36277946 36277946 + Silent SNP G G T TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 14 36277946 36277946 G T SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known silent c.96 p.R32 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 tier1 - - 55 0 0.00 37 4 9.76 0 0 0.00 0 0 0.00 MED21 0 genome.wustl.edu 37 12 27179393 27179418 + Frame_Shift_Del DEL AATGTGGTCCTCCTGCCTCTTTCAAT AATGTGGTCCTCCTGCCTCTTTCAAT - TCGA-DX-A7ER-01A-11D-A36J-09 TCGA-DX-A7ER-10A-01D-A36M-09 AATGTGGTCCTCCTGCCTCTTTCAAT AATGTGGTCCTCCTGCCTCTTTCAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3fe739b3-f74d-4241-ad59-41d70c6e190f e9334f05-85a9-45d3-b341-aacb77034f08 12 27179393 27179418 AATGTGGTCCTCCTGCCTCTTTCAAT - DEL MED21 ENST00000282892 human ensembl 74_37 +1 known frame_shift_del c.83_108 p.C29fs 1.000:1.000:1.000:1.000:1.000:1.000:0.995:0.686:1.000:1.000:0.944:1.000:1.000:0.985:1.000:1.000:0.995:1.000:1.000:0.994:1.000:1.000:0.997:1.000:1.000:1.000 pfam_Mediator_Med21 pfam_Mediator_Med21 - no_errors MED21 HGNC ENSG00000152944 tier1 50 0 0.00 30 2 6.25 50 0 0.00 30 2 6.25