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 TGFBR1 0 genome.wustl.edu 37 9 101894898 101894898 + Missense_Mutation SNP C C G TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 9 101894898 101894898 C G SNP TGFBR1 ENST00000374994 human ensembl 74_37 +1 known missense c.451 p.R151G 1.000 superfamily_Quinolinate_PRibosylTrfase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TGFBR1 HGNC ENSG00000106799 tier1 - - 49 0 0.00 22 13 37.14 72 0 0.00 47 24 33.33 PTPRC 0 genome.wustl.edu 37 1 198608430 198608430 + Missense_Mutation SNP C C G TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 1 198608430 198608430 C G SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.32 p.A11G 0.992 pirsf_Leukocyte_common_ag,pfam_PTP_recept_N pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 81 0 0.00 45 38 45.78 109 0 0.00 42 36 46.15 VPS13D 0 genome.wustl.edu 37 1 12382770 12382770 + Missense_Mutation SNP G G A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 1 12382770 12382770 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.7882 p.E2628K 0.993 superfamily_UBA-like pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 30 0 0.00 29 24 45.28 107 0 0.00 113 41 26.28 ERH 0 genome.wustl.edu 37 14 69847207 69847207 + R SNP C C A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 14 69847207 69847207 C A SNP ERH ENST00000216520 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ERH HGNC ENSG00000100632 tier1 - - 41 0 0.00 21 17 44.74 82 0 0.00 24 35 59.32 LINC00238 0 genome.wustl.edu 37 14 66965126 66965126 + R SNP T T C TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 14 66965126 66965126 T C SNP LINC00238 ENST00000359454 human ensembl 74_37 +1 known rna NULL NULL 0.745 - - - no_errors LINC00238 HGNC ENSG00000196553 tier1 - - 29 0 0.00 18 5 21.74 104 0 0.00 44 16 26.67 ZNF695 0 genome.wustl.edu 37 1 247150681 247150681 + Missense_Mutation SNP G G T TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 1 247150681 247150681 G T SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known missense c.1136 p.P379Q 0.990 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 ZNF695 HGNC ENSG00000197472 tier1 - - 42 0 0.00 23 23 50.00 30 0 0.00 19 11 36.67 DMXL2 0 genome.wustl.edu 37 15 51791871 51791871 + Missense_Mutation SNP T T A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 15 51791871 51791871 T A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.3550 p.T1184S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 28 0 0.00 22 6 21.43 76 0 0.00 66 10 13.16 SH2D7 0 genome.wustl.edu 37 15 78393658 78393658 + Missense_Mutation SNP G G A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 15 78393658 78393658 G A SNP SH2D7 ENST00000409568 human ensembl 74_37 +1 putative missense c.655 p.G219R 0.000 NULL NULL - no_errors SH2D7 HGNC ENSG00000183476 tier1 rs202061655 - 32 0 0.00 29 10 25.64 45 0 0.00 29 22 43.14 DROSHA 0 genome.wustl.edu 37 5 31526229 31526229 + Nonsense_Mutation SNP G G A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 5 31526229 31526229 G A SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known nonsense c.811 p.R271* 0.881 NULL pfam_RNase_III_dom,pfam_dsR-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsR-bd_dom,pfscan_dsR-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 tier1 - - 39 0 0.00 50 8 13.79 65 0 0.00 93 16 14.68 PITPNM1 0 genome.wustl.edu 37 11 67263036 67263036 + Silent SNP C C T TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 11 67263036 67263036 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known silent c.2355 p.E785 0.996 pfam_DDHD,pfscan_DDHD pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 tier1 - - 59 0 0.00 45 52 53.61 14 0 0.00 12 7 36.84 COL5A3 0 genome.wustl.edu 37 19 10079110 10079110 + Missense_Mutation SNP T T C TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 19 10079110 10079110 T C SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.4265 p.D1422G 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 29 0 0.00 34 15 30.61 40 0 0.00 16 15 48.39 WDYHV1 0 genome.wustl.edu 37 8 124453718 124453718 + R SNP C C A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 8 124453718 124453718 C A SNP WDYHV1 ENST00000517609 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WDYHV1 HGNC ENSG00000156795 tier1 - - 32 0 0.00 18 9 33.33 123 0 0.00 95 54 36.24 NNT 0 genome.wustl.edu 37 5 43702778 43702778 + Silent SNP A A G TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 5 43702778 43702778 A G SNP NNT ENST00000264663 human ensembl 74_37 +1 known silent c.3051 p.Q1017 0.944 pfam_DH_DH_b pfam_DH_DH_b,pfam_AlaDH/PNT_D(H)-bd,pfam_AlaDH/PNT_N,tigrfam_DP_transhyd_a - no_errors NNT HGNC ENSG00000112992 tier1 - - 88 0 0.00 58 53 47.75 100 0 0.00 59 47 44.34 GRIK3 0 genome.wustl.edu 37 1 37271869 37271869 + Missense_Mutation SNP G G A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 1 37271869 37271869 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.2150 p.A717V 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 26 0 0.00 13 33 70.21 80 0 0.00 36 57 61.29 WARS 0 genome.wustl.edu 37 14 100828076 100828076 + Missense_Mutation SNP A A C TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 14 100828076 100828076 A C SNP WARS ENST00000355338 human ensembl 74_37 -1 known missense c.282 p.S94R 0.939 NULL pfam_aa-tR-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_R-bd,pfscan_WHEP-TRS,prints_Trp-tR-ligase,tigrfam_Trp-tR-ligase - no_errors WARS HGNC ENSG00000140105 tier1 - - 72 0 0.00 36 19 34.55 76 0 0.00 69 14 16.87 MYO18B 0 genome.wustl.edu 37 22 26286800 26286800 + Silent SNP G G A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 22 26286800 26286800 G A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known silent c.4392 p.R1464 0.998 superfamily_tR-bd_arm pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tR-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 48 0 0.00 26 28 51.85 31 0 0.00 13 15 53.57 CRB1 0 genome.wustl.edu 37 1 197398635 197398635 + Nonsense_Mutation SNP T T A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 1 197398635 197398635 T A SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known nonsense c.2733 p.C911* 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 47 0 0.00 45 33 42.31 92 0 0.00 39 23 36.51 ADAM21P1 0 genome.wustl.edu 37 14 70713103 70713103 + R SNP T T C TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 14 70713103 70713103 T C SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ADAM21P1 HGNC ENSG00000235812 tier1 - - 69 0 0.00 40 18 31.03 40 0 0.00 24 11 31.43 LOC440905 0 genome.wustl.edu 37 2 130792055 130792055 + R SNP T T C TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 2 130792055 130792055 T C SNP LOC440905 ENST00000444030 human ensembl 74_37 -1 known rna NULL NULL 0.298 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 tier1 - - 52 0 0.00 42 16 27.59 35 0 0.00 28 4 12.50 BCLAF1 0 genome.wustl.edu 37 6 136599135 136599135 + Missense_Mutation SNP A A T TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 6 136599135 136599135 A T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.884 p.I295N 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 227 0 0.00 153 31 16.76 166 0 0.00 130 64 32.99 UGGT2 0 genome.wustl.edu 37 13 96513064 96513064 + Missense_Mutation SNP G G C TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 13 96513064 96513064 G C SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known missense c.3718 p.H1240D 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 tier1 - - 300 0 0.00 455 64 12.31 73 0 0.00 122 14 10.14 OR6C3 0 genome.wustl.edu 37 12 55725940 55725940 + Silent SNP C C A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 12 55725940 55725940 C A SNP OR6C3 ENST00000379667 human ensembl 74_37 +1 known silent c.456 p.T152 0.000 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 OR6C3 HGNC ENSG00000205329 tier1 - - 53 0 0.00 53 8 13.11 99 0 0.00 65 17 20.73 DH11 0 genome.wustl.edu 37 7 21698459 21698459 + Missense_Mutation SNP C C T TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 7 21698459 21698459 C T SNP DH11 ENST00000328843 human ensembl 74_37 +1 known missense c.5153 p.T1718M 0.655 pfam_Dynein_heavy_dom-2 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 rs202034810 - 70 0 0.00 20 39 66.10 85 1 1.16 33 40 54.79 NPTX2 0 genome.wustl.edu 37 7 98256582 98256582 + Missense_Mutation SNP C C A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 7 98256582 98256582 C A SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.994 p.L332M 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 tier1 - - 43 0 0.00 29 21 42.00 54 0 0.00 33 10 23.26 RUSC1-AS1 0 genome.wustl.edu 37 1 155290825 155290825 + R SNP G G C TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 1 155290825 155290825 G C SNP RUSC1-AS1 ENST00000450199 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors RUSC1-AS1 HGNC ENSG00000225855 tier1 - - 23 0 0.00 14 19 57.58 52 0 0.00 22 20 47.62 DH6 0 genome.wustl.edu 37 2 84885458 84885458 + Missense_Mutation SNP C C T TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 2 84885458 84885458 C T SNP DH6 ENST00000237449 human ensembl 74_37 +1 known missense c.5800 p.R1934C 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH6 HGNC ENSG00000115423 tier1 - - 94 0 0.00 95 47 33.10 90 0 0.00 79 43 35.25 ENSG00000253381 0 genome.wustl.edu 37 8 39961703 39961703 + R SNP A A T TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 8 39961703 39961703 A T SNP ENSG00000253381 ENST00000524098 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-359E19.1 Clone_based_vega_gene ENSG00000253381 tier1 - - 74 0 0.00 56 37 39.78 76 0 0.00 61 46 42.99 KALRN 0 genome.wustl.edu 37 3 124160810 124160810 + Missense_Mutation SNP C C T TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 3 124160810 124160810 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.3211 p.R1071W 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 71 0 0.00 52 12 18.75 64 0 0.00 49 11 18.33 ELSPBP1 0 genome.wustl.edu 37 19 48517529 48517529 + Missense_Mutation SNP G G A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 19 48517529 48517529 G A SNP ELSPBP1 ENST00000339841 human ensembl 74_37 +1 known missense c.172 p.V58M 0.000 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors ELSPBP1 HGNC ENSG00000169393 tier1 rs145096514 GMAF=0.0005 51 0 0.00 28 36 56.25 83 0 0.00 47 64 57.66 TLL2 0 genome.wustl.edu 37 10 98240208 98240208 + Frame_Shift_Del DEL A A - TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 10 98240208 98240208 A - DEL TLL2 ENST00000357947 human ensembl 74_37 -1 known frame_shift_del c.184 p.W62fs 1.000 pirsf_BMP_1/tolloid-like pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 tier1 84 0 0.00 52 24 31.58 101 0 0.00 59 15 20.27 KMT2A 0 genome.wustl.edu 37 11 118352703 118352709 + Frame_Shift_Del DEL TGGTCAT TGGTCAT - TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 TGGTCAT TGGTCAT TGGTCAT - TGGTCAT TGGTCAT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 11 118352703 118352709 TGGTCAT - DEL KMT2A ENST00000389506 human ensembl 74_37 +1 known frame_shift_del c.3908_3914 p.L1303fs 0.014:0.002:0.006:0.000:0.001:0.000:0.001 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 105 0 0.00 26 11 29.73 105 0 0.00 26 11 29.73 ADAD2 0 genome.wustl.edu 37 16 84230349 84230349 + Silent SNP C C T TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 16 84230349 84230349 C T SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known silent c.1869 p.A623 0.996 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 tier1 - - 23 0 0.00 8 21 72.41 43 0 0.00 2 22 91.67 ATRX 0 genome.wustl.edu 37 X 76952083 76952084 + Frame_Shift_Ins INS - - A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 X 76952083 76952084 - A INS ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_ins c.352_351 p.M117fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 36 0 0.00 10 25 71.43 41 0 0.00 6 41 87.23 OR51D1 0 genome.wustl.edu 37 11 4661964 4661964 + Missense_Mutation SNP T T C TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 11 4661964 4661964 T C SNP OR51D1 ENST00000357605 human ensembl 74_37 +1 known missense c.944 p.V315A 0.008 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 tier1 - - 49 0 0.00 54 6 9.84 95 0 0.00 56 6 9.68 OR6A2 0 genome.wustl.edu 37 11 6816255 6816255 + Missense_Mutation SNP C C A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 11 6816255 6816255 C A SNP OR6A2 ENST00000332601 human ensembl 74_37 -1 known missense c.685 p.A229S 0.968 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6A2 HGNC ENSG00000184933 tier1 - - 35 0 0.00 40 5 11.11 112 0 0.00 86 4 4.44 CDRT15L2 0 genome.wustl.edu 37 17 20483754 20483754 + Silent SNP C C T TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 17 20483754 20483754 C T SNP CDRT15L2 ENST00000399044 human ensembl 74_37 +1 known silent c.558 p.G186 0.007 NULL NULL - no_errors CDRT15L2 HGNC ENSG00000214819 tier1 - - 13 0 0.00 30 11 26.83 35 1 2.78 36 28 43.75 C9orf62 0 genome.wustl.edu 37 9 138235877 138235877 + Missense_Mutation SNP T T C TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 9 138235877 138235877 T C SNP C9orf62 ENST00000320778 human ensembl 74_37 +1 putative missense c.83 p.L28P 0.001 NULL NULL - no_errors C9orf62 HGNC ENSG00000178243 tier1 - - 31 0 0.00 21 12 36.36 17 1 5.26 11 9 45.00 FAM109A 0 genome.wustl.edu 37 12 111800949 111800949 + Missense_Mutation SNP C C T TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 12 111800949 111800949 C T SNP FAM109A ENST00000361483 human ensembl 74_37 -1 known missense c.322 p.A108T 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109A HGNC ENSG00000198324 tier1 - - 27 0 0.00 14 3 17.65 4 0 0.00 9 0 0.00 FRMPD3 0 genome.wustl.edu 37 X 106846480 106846480 + Silent SNP G G A TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 X 106846480 106846480 G A SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known silent c.5310 p.Q1770 0.516 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 - - 29 0 0.00 39 4 9.30 0 0 0.00 6 0 0.00 TCERG1 0 genome.wustl.edu 37 5 145890060 145890060 + Nonsense_Mutation SNP T T G TCGA-DX-AB2P-01A-11D-A387-09 TCGA-DX-AB2P-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 229d1a12-6364-4b92-8764-35b6beafc697 6fb55b48-5d07-4cfe-b318-bdb9270807e7 5 145890060 145890060 T G SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known nonsense c.3152 p.L1051* 1.000 pfam_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 tier1 - - 39 0 0.00 71 8 10.13 54 0 0.00 50 2 3.85