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 DUSP1 0 genome.wustl.edu 37 5 172195870 172195870 + Silent SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 5 172195870 172195870 G A SNP DUSP1 ENST00000239223 human ensembl 74_37 -1 known silent c.999 p.T333 0.773 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP1 HGNC ENSG00000120129 tier1 - - 78 0 0.00 33 6 15.38 100 0 0.00 82 12 12.77 SCAND3 0 genome.wustl.edu 37 6 28540383 28540383 + Missense_Mutation SNP C C A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 6 28540383 28540383 C A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.3283 p.D1095Y 1.000 superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 - - 62 0 0.00 44 7 13.73 100 1 0.99 58 16 21.62 MYH9 0 genome.wustl.edu 37 22 36688042 36688042 + Missense_Mutation SNP T T G TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 22 36688042 36688042 T G SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4334 p.K1445T 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 67 0 0.00 28 13 31.71 80 0 0.00 50 16 24.24 PTTG1IP 0 genome.wustl.edu 37 21 46276197 46276197 + Silent SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 21 46276197 46276197 G A SNP PTTG1IP ENST00000330938 human ensembl 74_37 -1 known silent c.360 p.C120 1.000 NULL smart_Plexin-like_fold - no_errors PTTG1IP HGNC ENSG00000183255 tier1 - - 107 0 0.00 77 9 10.34 67 0 0.00 36 6 14.29 ZNF407 0 genome.wustl.edu 37 18 72346148 72346148 + Missense_Mutation SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 18 72346148 72346148 G A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.3173 p.R1058H 0.994 smart_Znf_C2H2-like,smart_Znf_U1 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 22 0 0.00 21 12 36.36 125 0 0.00 67 21 23.86 SLC22A8 0 genome.wustl.edu 37 11 62782355 62782355 + Missense_Mutation SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 11 62782355 62782355 G A SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known missense c.76 p.L26F 0.008 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 tier1 - - 80 0 0.00 54 10 15.38 104 0 0.00 69 10 12.66 ST18 0 genome.wustl.edu 37 8 53084453 53084453 + Missense_Mutation SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 8 53084453 53084453 G A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.968 p.T323I 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 95 0 0.00 47 5 9.62 112 0 0.00 85 10 10.53 NLRP12 0 genome.wustl.edu 37 19 54313886 54313886 + Missense_Mutation SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 19 54313886 54313886 G A SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.1027 p.R343W 0.375 superfamily_P-loop_NTPase,pfscan_CHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 tier1 rs112159191 - 46 0 0.00 19 7 26.92 82 0 0.00 85 14 14.14 LONRF2 0 genome.wustl.edu 37 2 100915748 100915748 + Missense_Mutation SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 2 100915748 100915748 G A SNP LONRF2 ENST00000393437 human ensembl 74_37 -1 known missense c.1301 p.T434I 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 - - 71 0 0.00 63 14 17.95 99 0 0.00 62 16 20.51 ATIC 0 genome.wustl.edu 37 2 216197214 216197214 + Silent SNP A A G TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 2 216197214 216197214 A G SNP ATIC ENST00000236959 human ensembl 74_37 +1 known silent c.798 p.K266 0.985 pfam_AICARFT_IMPCHas,superfamily_Cytidine_deaminase-like,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 tier1 - - 56 0 0.00 60 7 10.45 123 0 0.00 102 27 20.93 CXXC1 0 genome.wustl.edu 37 18 47810148 47810148 + Missense_Mutation SNP A A T TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 18 47810148 47810148 A T SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.1463 p.I488N 1.000 pfam_CpG-bd_C pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 tier1 - - 60 0 0.00 34 6 15.00 116 0 0.00 88 13 12.75 SIN3A 0 genome.wustl.edu 37 15 75684814 75684814 + Missense_Mutation SNP G G C TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 15 75684814 75684814 G C SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known missense c.2620 p.Q874E 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 tier1 - - 56 0 0.00 57 21 26.92 105 1 0.94 95 19 16.67 ARL6 0 genome.wustl.edu 37 3 97487021 97487021 + Missense_Mutation SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 3 97487021 97487021 G A SNP ARL6 ENST00000335979 human ensembl 74_37 +1 known missense c.70 p.G24R 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL6 HGNC ENSG00000113966 tier1 - - 89 0 0.00 51 7 12.07 184 0 0.00 134 16 10.67 TFEC 0 genome.wustl.edu 37 7 115750938 115750938 + Missense_Mutation SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 7 115750938 115750938 G A SNP TFEC ENST00000484212 human ensembl 74_37 -1 novel missense c.22 p.L8F 0.373 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEC HGNC ENSG00000105967 tier1 - - 50 0 0.00 59 6 9.23 112 0 0.00 75 9 10.71 RYR3 0 genome.wustl.edu 37 15 33954925 33954925 + Silent SNP C C T TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 15 33954925 33954925 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.5194 p.L1732 0.543 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 98 0 0.00 52 21 28.77 119 0 0.00 92 23 20.00 QKI 0 genome.wustl.edu 37 6 163984490 163984490 + Missense_Mutation SNP G G C TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 6 163984490 163984490 G C SNP QKI ENST00000361752 human ensembl 74_37 +1 known missense c.673 p.A225P 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 tier1 - - 29 0 0.00 34 10 22.73 45 0 0.00 24 11 31.43 CERS2 0 genome.wustl.edu 37 1 150940932 150940932 + Missense_Mutation SNP C C T TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 1 150940932 150940932 C T SNP CERS2 ENST00000271688 human ensembl 74_37 -1 known missense c.230 p.R77Q 1.000 superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_Homeobox_dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS2 HGNC ENSG00000143418 tier1 - - 133 0 0.00 94 15 13.76 140 0 0.00 112 15 11.72 WWC2 0 genome.wustl.edu 37 4 184202086 184202086 + Missense_Mutation SNP A A G TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 4 184202086 184202086 A G SNP WWC2 ENST00000448232 human ensembl 74_37 +1 known missense c.2720 p.K907R 0.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 tier1 - - 42 0 0.00 34 16 32.00 181 1 0.55 124 21 14.48 ZNF133 0 genome.wustl.edu 37 20 18296306 18296306 + Missense_Mutation SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 20 18296306 18296306 G A SNP ZNF133 ENST00000396026 human ensembl 74_37 +1 known missense c.820 p.V274M 0.891 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF133 HGNC ENSG00000125846 tier1 - - 58 0 0.00 50 17 25.37 125 0 0.00 71 19 20.88 FBXO41 0 genome.wustl.edu 37 2 73486154 73486154 + Missense_Mutation SNP C C T TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 2 73486154 73486154 C T SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known missense c.2767 p.G923S 1.000 NULL superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 tier1 - - 92 0 0.00 57 7 10.94 63 0 0.00 37 6 13.95 LOC101928787 0 genome.wustl.edu 37 17 18857121 18857121 + R SNP G G C TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 17 18857121 18857121 G C SNP LOC101928787 ENST00000354432 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors AC090286.4 Clone_based_vega_gene ENSG00000196893 tier1 - - 78 0 0.00 52 11 17.46 141 0 0.00 111 32 22.38 NF1 0 genome.wustl.edu 37 17 29541587 29541588 + Frame_Shift_Ins INS - - A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 17 29541587 29541588 - A INS NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_ins c.1511_1512 p.L506fs 1.000:0.999 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 156 0 0.00 175 40 18.60 29 0 0.00 16 10 38.46 MTRNR2L6 0 genome.wustl.edu 37 7 142375121 142375121 + Missense_Mutation SNP T T C TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 7 142375121 142375121 T C SNP MTRNR2L6 ENST00000604952 human ensembl 74_37 +1 known missense c.59 p.V20A 1.000 NULL NULL - no_errors MTRNR2L6 HGNC ENSG00000270672 tier1 - - 61 0 0.00 53 16 23.19 12 0 0.00 6 5 45.45 FAM208B 0 genome.wustl.edu 37 10 5788196 5788196 + Missense_Mutation SNP T T C TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 10 5788196 5788196 T C SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.2812 p.S938P 0.962 pfam_DUF3715 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 tier1 - - 174 0 0.00 101 17 14.29 135 0 0.00 66 6 8.33 NCOR1 0 genome.wustl.edu 37 17 16049780 16049780 + Missense_Mutation SNP C C T TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 17 16049780 16049780 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.992 p.R331K 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 tier1 - - 86 0 0.00 51 8 13.56 90 0 0.00 79 8 9.20 C2orf71 0 genome.wustl.edu 37 2 29295870 29295870 + Missense_Mutation SNP C C A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 2 29295870 29295870 C A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.1258 p.A420S 0.004 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 tier1 - - 81 0 0.00 44 14 23.73 102 0 0.00 84 5 5.62 LCN2 0 genome.wustl.edu 37 9 130913979 130913979 + Missense_Mutation SNP C C T TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 9 130913979 130913979 C T SNP LCN2 ENST00000372998 human ensembl 74_37 +1 known missense c.344 p.T115M 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln - no_errors LCN2 HGNC ENSG00000148346 tier1 rs150975968 GMAF=0.0005 119 0 0.00 41 9 18.00 92 0 0.00 70 4 5.41 TKT 0 genome.wustl.edu 37 3 53274298 53274298 + Missense_Mutation SNP C C G TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 3 53274298 53274298 C G SNP TKT ENST00000423525 human ensembl 74_37 -1 known missense c.406 p.A136P 1.000 pfam_Transketolase_N,pfam_DH_E1 pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKT HGNC ENSG00000163931 tier1 - - 119 0 0.00 66 16 19.51 79 0 0.00 58 5 7.94 APOBR 0 genome.wustl.edu 37 16 28507458 28507458 + Missense_Mutation SNP G G A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 16 28507458 28507458 G A SNP APOBR ENST00000564831 human ensembl 74_37 +1 known missense c.1096 p.A366T 0.002 NULL NULL - no_errors APOBR HGNC ENSG00000184730 tier1 - - 46 0 0.00 33 7 17.50 14 0 0.00 5 0 0.00 KIF1C 0 genome.wustl.edu 37 17 4925906 4925906 + Missense_Mutation SNP C C A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 17 4925906 4925906 C A SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.2530 p.L844M 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 tier1 - - 45 0 0.00 24 4 14.29 12 0 0.00 8 0 0.00 ODF3 0 genome.wustl.edu 37 11 197587 197587 + Missense_Mutation SNP C C A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 11 197587 197587 C A SNP ODF3 ENST00000325113 human ensembl 74_37 +1 known missense c.136 p.L46M 0.569 NULL pfam_SHIPPO-rpt - no_errors ODF3 HGNC ENSG00000177947 tier1 - - 84 0 0.00 39 4 9.30 26 0 0.00 8 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102300044 102300044 + R SNP C C G TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 15 102300044 102300044 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 49 0 0.00 27 3 10.00 0 0 0.00 0 0 0.00 KRTAP2-2 0 genome.wustl.edu 37 17 39211139 39211140 + In_Frame_Ins INS - - GCAGGGGGGCCGGCA TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 17 39211139 39211140 - GCAGGGGGGCCGGCA INS KRTAP2-2 ENST00000542910 human ensembl 74_37 -1 known in_frame_ins c.325_324 p.108in_frame_insCRPPC 1.000:1.000 NULL pfam_Keratin-assoc - no_errors KRTAP2-2 HGNC ENSG00000214518 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LOC100131347 0 genome.wustl.edu 37 17 37213382 37213382 + R SNP G G T TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 17 37213382 37213382 G T SNP LOC100131347 ENST00000578423 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors CTD-2206N4.4 Clone_based_vega_gene ENSG00000263818 tier1 - - 66 0 0.00 45 4 8.16 0 0 0.00 0 0 0.00 MT-RNR1 0 genome.wustl.edu 37 MT 965 965 + R SNP C C A TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 MT 965 965 C A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 59 0 0.00 18 2 10.00 1 0 0.00 0 0 0.00 DRC1 0 genome.wustl.edu 37 2 26624902 26624902 + Missense_Mutation SNP C C G TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 2 26624902 26624902 C G SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.45 p.D15E 0.356 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 tier1 - - 249 0 0.00 178 16 8.21 59 0 0.00 46 3 6.12 DCAF5 0 genome.wustl.edu 37 14 69521851 69521851 + Missense_Mutation SNP G G C TCGA-SI-A71P-01A-12D-A33E-09 TCGA-SI-A71P-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 666434c3-057c-46d5-875f-5243314915c1 a4b6f436-9bf6-4964-a64b-b792e75e0697 14 69521851 69521851 G C SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known missense c.1552 p.R518G 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 tier1 - - 38 0 0.00 31 4 11.43 58 0 0.00 34 3 8.11