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 PPP1R1A 0 genome.wustl.edu 37 12 54975830 54975830 + Missense_Mutation SNP C C G TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 12 54975830 54975830 C G SNP PPP1R1A ENST00000257905 human ensembl 74_37 -1 known missense c.333 p.Q111H 1.000 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 tier1 - - 40 0 0.00 40 255 86.44 43 0 0.00 50 269 84.33 EDEM3 0 genome.wustl.edu 37 1 184680917 184680917 + Missense_Mutation SNP C C A TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 1 184680917 184680917 C A SNP EDEM3 ENST00000318130 human ensembl 74_37 -1 known missense c.1631 p.S544I 1.000 NULL pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 tier1 - - 89 0 0.00 80 20 20.00 74 0 0.00 52 10 16.13 KCNH8 0 genome.wustl.edu 37 3 19575241 19575241 + Missense_Mutation SNP G G C TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 3 19575241 19575241 G C SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.2974 p.D992H 0.896 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tR-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 49 0 0.00 34 4 10.53 92 0 0.00 91 15 14.15 DUSP21 0 genome.wustl.edu 37 X 44703772 44703772 + Missense_Mutation SNP G G A TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 X 44703772 44703772 G A SNP DUSP21 ENST00000339042 human ensembl 74_37 +1 known missense c.394 p.A132T 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP21 HGNC ENSG00000189037 tier1 - - 21 0 0.00 14 6 30.00 21 0 0.00 12 7 36.84 R3HDM2 0 genome.wustl.edu 37 12 57693914 57693914 + Silent SNP G G A TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 12 57693914 57693914 G A SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known silent c.258 p.S86 0.998 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 tier1 - - 34 0 0.00 37 29 43.94 78 0 0.00 79 32 28.83 SLC4A8 0 genome.wustl.edu 37 12 51857442 51857442 + Missense_Mutation SNP C C G TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 12 51857442 51857442 C G SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known missense c.1293 p.H431Q 0.984 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 tier1 - - 51 0 0.00 334 118 26.11 102 0 0.00 598 195 24.59 OR52E6 0 genome.wustl.edu 37 11 5863176 5863176 + Missense_Mutation SNP T T C TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 11 5863176 5863176 T C SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known missense c.7 p.K3E 0.034 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 tier1 - - 42 0 0.00 32 9 21.95 75 0 0.00 51 8 13.56 IL17RA 0 genome.wustl.edu 37 22 17579665 17579665 + Missense_Mutation SNP C C T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 22 17579665 17579665 C T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known missense c.311 p.A104V 1.000 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 tier1 - - 37 0 0.00 47 9 16.07 41 0 0.00 49 7 12.50 E2F7 0 genome.wustl.edu 37 12 77458410 77458410 + Missense_Mutation SNP C C G TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 12 77458410 77458410 C G SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.6 p.E2D 1.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 tier1 - - 35 0 0.00 37 80 68.38 125 0 0.00 83 151 64.53 CTTN 0 genome.wustl.edu 37 11 70255965 70255965 + Nonsense_Mutation SNP C C T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 11 70255965 70255965 C T SNP CTTN ENST00000301843 human ensembl 74_37 +1 known nonsense c.190 p.Q64* 0.996 NULL pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 tier1 - - 37 0 0.00 79 15 15.96 104 0 0.00 138 32 18.82 GRIA1 0 genome.wustl.edu 37 5 153065889 153065889 + Silent SNP G G A TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 5 153065889 153065889 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known silent c.1164 p.K388 1.000 superfamily_Peripla_BP_I 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 GRIA1 HGNC ENSG00000155511 tier1 - - 25 0 0.00 30 8 21.05 73 0 0.00 61 13 17.57 DLGAP1 0 genome.wustl.edu 37 18 3879315 3879315 + Missense_Mutation SNP G G A TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 18 3879315 3879315 G A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.754 p.R252W 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 tier1 - - 49 0 0.00 30 7 18.92 23 0 0.00 23 6 20.69 PPP1R1A 0 genome.wustl.edu 37 12 54975829 54975829 + Missense_Mutation SNP C C T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 12 54975829 54975829 C T SNP PPP1R1A ENST00000257905 human ensembl 74_37 -1 known missense c.334 p.E112K 1.000 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 tier1 - - 40 0 0.00 39 251 86.55 42 0 0.00 48 267 84.23 EPHA5 0 genome.wustl.edu 37 4 66356412 66356412 + Missense_Mutation SNP C C T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 4 66356412 66356412 C T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.1085 p.R362Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 52 0 0.00 21 10 32.26 79 0 0.00 41 18 30.51 FBXW10 0 genome.wustl.edu 37 17 18668118 18668118 + Silent SNP T T G TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 17 18668118 18668118 T G SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known silent c.1584 p.T528 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW10 HGNC ENSG00000171931 tier1 - - 64 0 0.00 45 7 13.46 52 0 0.00 14 7 31.82 KIF26A 0 genome.wustl.edu 37 14 104638087 104638087 + Missense_Mutation SNP G G T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 14 104638087 104638087 G T SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.1141 p.A381S 0.327 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 51 0 0.00 58 12 17.14 6 0 0.00 10 2 16.67 ZNF229 0 genome.wustl.edu 37 19 44934383 44934383 + Silent SNP C C T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 19 44934383 44934383 C T SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known silent c.573 p.A191 0.000 NULL 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 ZNF229 HGNC ENSG00000167383 tier1 - - 46 0 0.00 46 6 11.54 75 0 0.00 63 18 21.95 SLC6A13 0 genome.wustl.edu 37 12 352956 352956 + Missense_Mutation SNP C C T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 12 352956 352956 C T SNP SLC6A13 ENST00000343164 human ensembl 74_37 -1 known missense c.226 p.V76I 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC ENSG00000010379 tier1 rs147275386 GMAF=0.0005 87 0 0.00 53 5 8.62 71 0 0.00 42 18 30.00 KCNJ6 0 genome.wustl.edu 37 21 39086687 39086687 + Missense_Mutation SNP G G A TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 21 39086687 39086687 G A SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.773 p.T258M 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 tier1 - - 71 0 0.00 55 7 11.29 99 0 0.00 66 20 23.26 SLC9C2 0 genome.wustl.edu 37 1 173486699 173486699 + Missense_Mutation SNP C C T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 1 173486699 173486699 C T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.2884 p.V962I 0.905 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 rs147401558 GMAF=0.0005 47 0 0.00 38 12 24.00 83 1 1.19 51 8 13.56 TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.893 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 63 0 0.00 42 12 22.22 94 0 0.00 79 16 16.84 GIMAP8 0 genome.wustl.edu 37 7 150174547 150174547 + Silent SNP C C T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 7 150174547 150174547 C T SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known silent c.1677 p.Y559 0.009 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 tier1 - - 32 0 0.00 19 5 20.83 125 0 0.00 89 20 18.35 MUC17 0 genome.wustl.edu 37 7 100682909 100682909 + Missense_Mutation SNP G G T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 7 100682909 100682909 G T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.8212 p.G2738C 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 196 0 0.00 148 19 11.38 18 0 0.00 16 3 15.79 LOC101929693 0 genome.wustl.edu 37 17 38499264 38499264 + R SNP A A G TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 17 38499264 38499264 A G SNP LOC101929693 ENST00000581080 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2267D19.2 Clone_based_vega_gene ENSG00000265666 tier1 - - 47 0 0.00 44 14 24.14 98 0 0.00 71 10 12.05 KCNH4 0 genome.wustl.edu 37 17 40321679 40321679 + Missense_Mutation SNP A A G TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 17 40321679 40321679 A G SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known missense c.1406 p.V469A 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_ELK pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 tier1 - - 66 0 0.00 53 11 17.19 12 0 0.00 5 2 28.57 SLC31A2 0 genome.wustl.edu 37 9 115923901 115923901 + Silent SNP C C T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 9 115923901 115923901 C T SNP SLC31A2 ENST00000259392 human ensembl 74_37 +1 known silent c.186 p.I62 0.030 pfam_Cop_transporter pfam_Cop_transporter - no_errors SLC31A2 HGNC ENSG00000136867 tier1 - - 33 0 0.00 33 643 94.98 36 1 2.70 26 685 96.34 ENSG00000203849 0 genome.wustl.edu 37 1 142634555 142634555 + R SNP A A G TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 1 142634555 142634555 A G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.054 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 rs4362000 - 8 0 0.00 5 4 44.44 0 0 0.00 0 0 0.00 KRTAP5-5 0 genome.wustl.edu 37 11 1651227 1651228 + Frame_Shift_Ins INS - - GAGGC TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 11 1651227 1651228 - GAGGC INS KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known frame_shift_ins c.157_158 p.A53fs 0.083:0.113 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 0 0 0.00 3 0 0.00 0 0 0.00 3 0 0.00 KRTAP5-5 0 genome.wustl.edu 37 11 1651229 1651230 + Frame_Shift_Ins INS - - TGGCTCC TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 11 1651229 1651230 - TGGCTCC INS KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known frame_shift_ins c.159_160 p.G53fs 0.325:0.996 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 0 0 0.00 3 0 0.00 0 0 0.00 3 0 0.00 MT-ND5 0 genome.wustl.edu 37 MT 12508 12508 + Missense_Mutation SNP G G A TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 MT 12508 12508 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.172 p.D58N NULL tigrfam_DHpl_OxRdtase_5 pfam_DH_UbQ/plastoQ_OxRdtase,pfam_DH_DH_su5_C,pfam_DH_UbQ_OxRdtase_chain5/L_N,tigrfam_DHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 54 0 0.00 21 30 58.82 0 0 0.00 0 0 0.00 MT-RNR2 0 genome.wustl.edu 37 MT 1884 1884 + R SNP G G A TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 MT 1884 1884 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 22 0 0.00 13 25 65.79 0 0 0.00 0 0 0.00 C10orf131 0 genome.wustl.edu 37 10 97684071 97684071 + Missense_Mutation SNP A A T TCGA-DX-A2J1-01A-11D-A21Q-09 TCGA-DX-A2J1-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3278541c-2838-4fda-a6fe-cacf4452baae c9668713-33ae-4fe6-9a86-f669778a8f53 10 97684071 97684071 A T SNP C10orf131 ENST00000423344 human ensembl 74_37 +1 known missense c.74 p.D25V 0.113 NULL NULL - no_errors C10orf131 HGNC ENSG00000173088 tier1 - - 69 0 0.00 57 7 10.94 77 0 0.00 55 3 5.17