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 PIN1 0 genome.wustl.edu 37 19 9960266 9960266 + R SNP C C T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 19 9960266 9960266 C T SNP PIN1 ENST00000380889 human ensembl 74_37 +1 known rna NULL NULL 0.806 - - - no_errors PIN1 HGNC ENSG00000127445 tier1 - - 52 0 0.00 397 70 14.99 69 0 0.00 379 50 11.66 YOD1 0 genome.wustl.edu 37 1 207222921 207222921 + Missense_Mutation SNP C C T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 1 207222921 207222921 C T SNP YOD1 ENST00000315927 human ensembl 74_37 -1 known missense c.491 p.S164N 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors YOD1 HGNC ENSG00000180667 tier1 - - 59 0 0.00 49 8 14.04 115 0 0.00 86 23 21.10 C9orf41 0 genome.wustl.edu 37 9 77611400 77611400 + Missense_Mutation SNP C C G TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 9 77611400 77611400 C G SNP C9orf41 ENST00000376834 human ensembl 74_37 -1 known missense c.987 p.W329C 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 tier1 - - 49 0 0.00 484 108 18.21 98 0 0.00 591 114 16.17 KRT81 0 genome.wustl.edu 37 12 52681806 52681806 + Missense_Mutation SNP G G A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 12 52681806 52681806 G A SNP KRT81 ENST00000327741 human ensembl 74_37 -1 known missense c.862 p.R288C 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 tier1 rs144716678 - 54 0 0.00 55 9 14.06 31 0 0.00 30 5 14.29 FCRL3 0 genome.wustl.edu 37 1 157666077 157666077 + Silent SNP G G A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 1 157666077 157666077 G A SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known silent c.885 p.T295 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 43 0 0.00 31 13 29.55 96 0 0.00 84 16 15.69 RAP1B 0 genome.wustl.edu 37 12 69053162 69053162 + R SNP C C T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 12 69053162 69053162 C T SNP RAP1B ENST00000463493 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors RAP1B HGNC ENSG00000127314 tier1 - - 38 0 0.00 336 165 32.93 118 0 0.00 805 365 31.17 OLFM2 0 genome.wustl.edu 37 19 9968504 9968504 + Missense_Mutation SNP C C G TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 19 9968504 9968504 C G SNP OLFM2 ENST00000264833 human ensembl 74_37 -1 known missense c.247 p.E83Q 1.000 pfam_Noelin-1 pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 tier1 - - 48 0 0.00 421 79 15.74 99 0 0.00 668 104 13.42 RIMS1 0 genome.wustl.edu 37 6 73043350 73043350 + Missense_Mutation SNP G G T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 6 73043350 73043350 G T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4178 p.R1393I 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 32 0 0.00 24 7 22.58 97 0 0.00 93 21 18.42 PPIL2 0 genome.wustl.edu 37 22 22007679 22007679 + R SNP C C T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 22 22007679 22007679 C T SNP PPIL2 ENST00000498589 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PPIL2 HGNC ENSG00000100023 tier1 - - 81 0 0.00 79 31 28.18 52 0 0.00 58 12 17.14 CCDC125 0 genome.wustl.edu 37 5 68616304 68616304 + Missense_Mutation SNP C C T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 5 68616304 68616304 C T SNP CCDC125 ENST00000396496 human ensembl 74_37 -1 known missense c.64 p.D22N 1.000 NULL NULL - no_errors CCDC125 HGNC ENSG00000183323 tier1 - - 34 0 0.00 28 5 15.15 77 0 0.00 55 13 19.12 SYT1 0 genome.wustl.edu 37 12 79611315 79611315 + Missense_Mutation SNP C C T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 12 79611315 79611315 C T SNP SYT1 ENST00000261205 human ensembl 74_37 +1 known missense c.16 p.H6Y 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 tier1 - - 22 0 0.00 35 13 27.08 58 0 0.00 45 45 50.00 PTPRO 0 genome.wustl.edu 37 12 15704508 15704508 + Missense_Mutation SNP G G T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 12 15704508 15704508 G T SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.2461 p.V821L 0.998 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 tier1 - - 65 0 0.00 55 10 15.38 149 0 0.00 124 28 18.30 SLC16A13 0 genome.wustl.edu 37 17 6943237 6943237 + Missense_Mutation SNP G G C TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 17 6943237 6943237 G C SNP SLC16A13 ENST00000308027 human ensembl 74_37 +1 known missense c.1237 p.D413H 0.005 NULL pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 tier1 - - 28 0 0.00 16 30 65.22 75 0 0.00 104 85 44.97 FLG2 0 genome.wustl.edu 37 1 152324804 152324804 + Missense_Mutation SNP G G A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 1 152324804 152324804 G A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.5458 p.H1820Y 0.006 prints_Filaggrin pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 74 0 0.00 83 23 21.70 71 0 0.00 64 8 11.11 PGA5 0 genome.wustl.edu 37 11 61017218 61017218 + Missense_Mutation SNP C C T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 11 61017218 61017218 C T SNP PGA5 ENST00000312403 human ensembl 74_37 +1 known missense c.851 p.T284I 0.087 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGA5 HGNC ENSG00000256713 tier1 - - 68 0 0.00 56 16 22.22 11 0 0.00 18 6 25.00 DCTN2 0 genome.wustl.edu 37 12 57932336 57932336 + R SNP C C T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 12 57932336 57932336 C T SNP DCTN2 ENST00000551400 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DCTN2 HGNC ENSG00000175203 tier1 - - 49 0 0.00 165 57 25.68 92 0 0.00 424 145 25.35 TRHDE 0 genome.wustl.edu 37 12 73014948 73014948 + Missense_Mutation SNP T T C TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 12 73014948 73014948 T C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2395 p.F799L 0.981 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 47 0 0.00 335 61 15.40 112 1 0.88 497 130 20.70 COL11A2 0 genome.wustl.edu 37 6 33144998 33144998 + Missense_Mutation SNP A A C TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 6 33144998 33144998 A C SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.1976 p.L659R 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 58 0 0.00 50 11 18.03 99 0 0.00 98 26 20.97 NKAIN3 0 genome.wustl.edu 37 8 63659614 63659614 + Missense_Mutation SNP G G A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 8 63659614 63659614 G A SNP NKAIN3 ENST00000328472 human ensembl 74_37 +1 known missense c.397 p.V133I 0.974 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN3 HGNC ENSG00000185942 tier1 - - 43 0 0.00 40 10 20.00 69 0 0.00 62 16 20.51 SCN4A 0 genome.wustl.edu 37 17 62049824 62049824 + Missense_Mutation SNP T T C TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 17 62049824 62049824 T C SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.280 p.I94V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 51 0 0.00 56 10 15.15 107 0 0.00 75 19 20.21 EMC8 0 genome.wustl.edu 37 16 85813472 85813472 + Missense_Mutation SNP C C A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 16 85813472 85813472 C A SNP EMC8 ENST00000253457 human ensembl 74_37 -1 known missense c.475 p.D159Y 1.000 pfam_UPF0172 pfam_UPF0172 - no_errors EMC8 HGNC ENSG00000131148 tier1 - - 22 0 0.00 22 4 15.38 76 0 0.00 67 16 19.28 C9orf41 0 genome.wustl.edu 37 9 77611441 77611441 + Missense_Mutation SNP C C G TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 9 77611441 77611441 C G SNP C9orf41 ENST00000376834 human ensembl 74_37 -1 known missense c.946 p.D316H 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 tier1 - - 54 0 0.00 454 87 16.08 100 0 0.00 560 78 12.21 MARCH2 0 genome.wustl.edu 37 19 8495621 8495621 + Missense_Mutation SNP T T A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 19 8495621 8495621 T A SNP MARCH2 ENST00000215555 human ensembl 74_37 +1 known missense c.452 p.L151Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH2 HGNC ENSG00000099785 tier1 - - 44 0 0.00 37 15 28.85 37 0 0.00 36 11 23.40 VSIG10L 0 genome.wustl.edu 37 19 51844520 51844520 + Missense_Mutation SNP C C G TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 19 51844520 51844520 C G SNP VSIG10L ENST00000335624 human ensembl 74_37 -1 novel missense c.782 p.R261P 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG10L HGNC ENSG00000186806 tier1 - - 26 0 0.00 37 10 21.28 25 0 0.00 19 5 20.83 BBS9 0 genome.wustl.edu 37 7 33303966 33303966 + Missense_Mutation SNP G G A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 7 33303966 33303966 G A SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.682 p.G228S 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 tier1 - - 144 0 0.00 164 43 20.77 150 1 0.66 152 13 7.88 DMWD 0 genome.wustl.edu 37 19 46289542 46289544 + In_Frame_Del DEL CTC CTC - TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 19 46289542 46289544 CTC - DEL DMWD ENST00000270223 human ensembl 74_37 -1 known in_frame_del c.1212_1210 p.E404in_frame_del 1.000:1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 tier1 17 0 0.00 22 2 8.33 8 0 0.00 8 0 0.00 TSC22D4 0 genome.wustl.edu 37 7 100075194 100075194 + Frame_Shift_Del DEL G G - TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 7 100075194 100075194 G - DEL TSC22D4 ENST00000300181 human ensembl 74_37 -1 known frame_shift_del c.468 p.T157fs 0.536 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D4 HGNC ENSG00000166925 tier1 8 0 0.00 13 2 13.33 14 0 0.00 4 0 0.00 G11 0 genome.wustl.edu 37 19 3121300 3121300 + R DEL T T - TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 19 3121300 3121300 T - DEL G11 ENST00000586180 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors G11 HGNC ENSG00000088256 tier1 14 0 0.00 22 4 15.38 0 0 0.00 1 0 0.00 HOXB6 0 genome.wustl.edu 37 17 46675273 46675273 + Silent SNP G G A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 17 46675273 46675273 G A SNP HOXB6 ENST00000225648 human ensembl 74_37 -1 known silent c.240 p.F80 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB6 HGNC ENSG00000108511 tier1 - - 37 0 0.00 19 5 20.83 2 0 0.00 0 0 0.00 NDUFA7 0 genome.wustl.edu 37 19 8386199 8386199 + Missense_Mutation SNP G G T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 19 8386199 8386199 G T SNP NDUFA7 ENST00000301457 human ensembl 74_37 -1 known missense c.44 p.A15E 0.759 pfam_DH-UbQ_OxRdtase_B14.5a_su pfam_DH-UbQ_OxRdtase_B14.5a_su - no_errors NDUFA7 HGNC ENSG00000267855 tier1 - - 25 0 0.00 18 8 30.77 2 0 0.00 1 0 0.00 RN7SKP221 0 genome.wustl.edu 37 22 21899852 21899852 + R SNP C C A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 22 21899852 21899852 C A SNP RN7SKP221 ENST00000410420 human ensembl 74_37 -1 known rna NULL NULL 0.314 - - - no_errors RN7SKP221 HGNC ENSG00000222352 tier1 - - 38 0 0.00 32 4 11.11 1 0 0.00 0 0 0.00 MT-RNR2 0 genome.wustl.edu 37 MT 3079 3079 + R SNP G G A TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf MT 3079 3079 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 39 0 0.00 63 30 32.26 4 0 0.00 5 4 44.44 KIAA1109 0 genome.wustl.edu 37 4 123280877 123280877 + Missense_Mutation SNP G G T TCGA-DX-A6BE-01A-41D-A32I-09 TCGA-DX-A6BE-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 406790e5-4047-4f74-86ed-6ce0c93069a3 33cfaab4-e272-46bf-9cf9-18bc3880eddf 4 123280877 123280877 G T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.14801 p.R4934I 1.000 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 36 0 0.00 40 4 9.09 86 0 0.00 120 2 1.64