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 BRD8 0 genome.wustl.edu 37 5 137476530 137476530 + Missense_Mutation SNP C C A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 5 137476530 137476530 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.3479 p.G1160V 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 tier1 - - 21 0 0.00 5 5 50.00 78 0 0.00 38 29 43.28 SLC9A4 0 genome.wustl.edu 37 2 103148832 103148832 + Silent SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 2 103148832 103148832 C T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known silent c.2082 p.S694 0.001 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 tier1 - - 79 0 0.00 56 13 18.84 127 0 0.00 93 54 36.73 ATRX 0 genome.wustl.edu 37 X 76912104 76912104 + Nonsense_Mutation SNP G G C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd X 76912104 76912104 G C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.4160 p.S1387* 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 - - 135 0 0.00 80 78 49.37 113 0 0.00 81 56 40.29 ENSG00000268366 0 genome.wustl.edu 37 19 40949861 40949861 + R SNP T T A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 19 40949861 40949861 T A SNP ENSG00000268366 ENST00000599050 human ensembl 74_37 +1 known rna NULL NULL 0.430 - - - no_errors CTC-492K19.4 Clone_based_vega_gene ENSG00000268366 tier1 - - 35 0 0.00 6 8 57.14 105 0 0.00 81 36 30.77 SEZ6L 0 genome.wustl.edu 37 22 26701984 26701984 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 22 26701984 26701984 G A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.1388 p.R463H 0.995 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 - - 30 0 0.00 28 14 32.56 73 0 0.00 102 20 16.13 DH5 0 genome.wustl.edu 37 5 13766211 13766211 + Silent SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 5 13766211 13766211 G A SNP DH5 ENST00000265104 human ensembl 74_37 -1 known silent c.9975 p.C3325 0.693 NULL 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 DH5 HGNC ENSG00000039139 tier1 - - 42 0 0.00 29 11 27.50 69 0 0.00 81 23 21.90 UROC1 0 genome.wustl.edu 37 3 126219578 126219578 + Missense_Mutation SNP C C A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 3 126219578 126219578 C A SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.1105 p.A369S 1.000 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 tier1 - - 66 0 0.00 37 18 32.73 52 0 0.00 61 10 14.08 FAM196B 0 genome.wustl.edu 37 5 169310676 169310676 + Missense_Mutation SNP G G C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 5 169310676 169310676 G C SNP FAM196B ENST00000377365 human ensembl 74_37 -1 known missense c.227 p.P76R 0.259 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 tier1 - - 53 0 0.00 17 12 41.38 44 0 0.00 49 25 33.33 ALDH1L1 0 genome.wustl.edu 37 3 125836884 125836884 + Missense_Mutation SNP G G T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 3 125836884 125836884 G T SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.1946 p.T649K 0.999 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 tier1 - - 85 0 0.00 73 19 20.65 58 0 0.00 36 17 32.08 PPP1R10 0 genome.wustl.edu 37 6 30571953 30571953 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 6 30571953 30571953 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.1340 p.A447V 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 tier1 - - 46 0 0.00 44 5 10.20 58 0 0.00 48 6 10.91 NOL8 0 genome.wustl.edu 37 9 95078413 95078413 + Missense_Mutation SNP T T G TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 9 95078413 95078413 T G SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.494 p.K165T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 tier1 - - 47 0 0.00 16 37 69.81 78 0 0.00 53 48 47.06 PIWIL3 0 genome.wustl.edu 37 22 25124262 25124262 + Missense_Mutation SNP G G T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 22 25124262 25124262 G T SNP PIWIL3 ENST00000332271 human ensembl 74_37 -1 known missense c.1814 p.P605Q 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 tier1 - - 70 0 0.00 92 21 18.58 137 0 0.00 150 36 19.35 TNPO3 0 genome.wustl.edu 37 7 128619071 128619071 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 7 128619071 128619071 C T SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known missense c.2129 p.G710E 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 tier1 - - 28 0 0.00 14 11 44.00 36 0 0.00 59 14 19.18 IQCE 0 genome.wustl.edu 37 7 2646853 2646853 + Missense_Mutation SNP C C G TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 7 2646853 2646853 C G SNP IQCE ENST00000402050 human ensembl 74_37 +1 known missense c.1961 p.A654G 0.004 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 tier1 - - 42 0 0.00 47 17 26.15 39 0 0.00 52 18 25.71 SEC16A 0 genome.wustl.edu 37 9 139347902 139347902 + Missense_Mutation SNP A A C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 9 139347902 139347902 A C SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.6137 p.F2046C 0.002 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 48 0 0.00 37 6 13.95 115 0 0.00 65 12 15.58 EPHA7 0 genome.wustl.edu 37 6 93964495 93964495 + Missense_Mutation SNP C C A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 6 93964495 93964495 C A SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2402 p.R801M 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 32 0 0.00 27 20 42.55 69 0 0.00 67 61 47.66 DI2 0 genome.wustl.edu 37 17 72285741 72285741 + Missense_Mutation SNP A A G TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 17 72285741 72285741 A G SNP DI2 ENST00000311014 human ensembl 74_37 +1 known missense c.476 p.Q159R 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DI2 HGNC ENSG00000171595 tier1 - - 27 0 0.00 15 9 37.50 50 0 0.00 52 20 27.78 MFI2 0 genome.wustl.edu 37 3 196751255 196751255 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 3 196751255 196751255 G A SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known missense c.406 p.R136C 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 tier1 - - 55 0 0.00 39 12 23.08 10 0 0.00 23 6 20.69 EFCAB3 0 genome.wustl.edu 37 17 60472473 60472473 + Missense_Mutation SNP A A G TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 17 60472473 60472473 A G SNP EFCAB3 ENST00000450662 human ensembl 74_37 +1 known missense c.568 p.I190V 0.997 NULL pfscan_EF_hand_dom - no_errors EFCAB3 HGNC ENSG00000172421 tier1 - - 60 0 0.00 19 37 66.07 128 0 0.00 61 87 58.78 ZNF681 0 genome.wustl.edu 37 19 23927876 23927876 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 19 23927876 23927876 C T SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.476 p.G159E 0.001 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 ZNF681 HGNC ENSG00000196172 tier1 - - 19 0 0.00 18 14 43.75 59 0 0.00 42 27 39.13 CACNB4 0 genome.wustl.edu 37 2 152727108 152727108 + Silent SNP A A C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 2 152727108 152727108 A C SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known silent c.636 p.P212 0.985 superfamily_SH3_domain,prints_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 tier1 - - 20 0 0.00 11 10 47.62 105 0 0.00 30 63 67.74 GTPBP8 0 genome.wustl.edu 37 3 112714066 112714066 + Missense_Mutation SNP G G C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 3 112714066 112714066 G C SNP GTPBP8 ENST00000383678 human ensembl 74_37 +1 known missense c.520 p.E174Q 0.978 pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_GTP-bd_ribosome_bio_YsxC pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_GTP-bd_ribosome_bio_YsxC - no_errors GTPBP8 HGNC ENSG00000163607 tier1 - - 46 0 0.00 45 4 8.16 129 0 0.00 164 30 15.46 ALG6 0 genome.wustl.edu 37 1 63872024 63872024 + Missense_Mutation SNP T T C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 63872024 63872024 T C SNP ALG6 ENST00000371108 human ensembl 74_37 +1 known missense c.383 p.V128A 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 tier1 rs188679061 - 62 0 0.00 94 9 8.65 142 0 0.00 161 18 10.06 FAM26D 0 genome.wustl.edu 37 6 116875020 116875020 + Silent SNP T T C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 6 116875020 116875020 T C SNP FAM26D ENST00000368596 human ensembl 74_37 +1 known silent c.64 p.L22 0.988 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 tier1 - - 37 0 0.00 35 36 50.70 70 0 0.00 49 32 39.51 TGFBR3 0 genome.wustl.edu 37 1 92187646 92187646 + Missense_Mutation SNP T T G TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 92187646 92187646 T G SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known missense c.941 p.K314T 0.998 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 tier1 - - 41 0 0.00 52 5 8.62 80 0 0.00 140 25 15.15 C2orf16 0 genome.wustl.edu 37 2 27801965 27801965 + Silent SNP A A C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 2 27801965 27801965 A C SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known silent c.2526 p.L842 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 tier1 - - 38 0 0.00 18 9 33.33 98 0 0.00 76 13 14.61 UBE3B 0 genome.wustl.edu 37 12 109948259 109948259 + Nonsense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 12 109948259 109948259 C T SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known nonsense c.1852 p.R618* 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 tier1 - - 33 0 0.00 25 9 26.47 14 0 0.00 30 4 11.76 C1QTNF9 0 genome.wustl.edu 37 13 24895530 24895530 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 13 24895530 24895530 C T SNP C1QTNF9 ENST00000332018 human ensembl 74_37 +1 known missense c.626 p.T209M 0.876 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9 HGNC ENSG00000240654 tier1 - - 23 0 0.00 11 5 31.25 53 0 0.00 43 14 24.56 URB2 0 genome.wustl.edu 37 1 229779403 229779403 + Missense_Mutation SNP G G C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 229779403 229779403 G C SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.3758 p.G1253A 0.974 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 tier1 - - 84 0 0.00 88 15 14.56 118 0 0.00 98 15 13.16 ADH7 0 genome.wustl.edu 37 4 100341929 100341929 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 4 100341929 100341929 C T SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known missense c.622 p.V208I 0.920 superfamily_GroES-like pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 tier1 - - 25 0 0.00 33 8 19.51 114 0 0.00 85 10 10.53 OR13G1 0 genome.wustl.edu 37 1 247835651 247835651 + Silent SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 247835651 247835651 C T SNP OR13G1 ENST00000359688 human ensembl 74_37 -1 known silent c.693 p.K231 0.000 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 OR13G1 HGNC ENSG00000197437 tier1 - - 54 0 0.00 47 11 18.64 65 0 0.00 69 18 20.69 HELQ 0 genome.wustl.edu 37 4 84350703 84350703 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 4 84350703 84350703 G A SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.2492 p.T831I 1.000 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_D_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 tier1 - - 54 0 0.00 36 24 40.00 104 0 0.00 82 78 48.45 DH2 0 genome.wustl.edu 37 17 7724577 7724577 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 17 7724577 7724577 C T SNP DH2 ENST00000389173 human ensembl 74_37 +1 known missense c.11032 p.L3678F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH2 HGNC ENSG00000183914 tier1 - - 39 0 0.00 50 17 25.37 95 0 0.00 120 29 19.46 LOC100288897 0 genome.wustl.edu 37 2 131175634 131175634 + R SNP A A T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 2 131175634 131175634 A T SNP LOC100288897 ENST00000424873 human ensembl 74_37 -1 known rna NULL NULL 0.030 - - - no_errors AC140481.1 Clone_based_vega_gene ENSG00000178162 tier1 - - 26 0 0.00 17 7 29.17 17 0 0.00 17 20 54.05 TLN2 0 genome.wustl.edu 37 15 62986578 62986578 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 15 62986578 62986578 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.1279 p.V427I 0.999 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 45 0 0.00 24 16 40.00 142 1 0.70 97 30 23.62 UMPS 0 genome.wustl.edu 37 3 124456888 124456888 + Silent SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 3 124456888 124456888 C T SNP UMPS ENST00000232607 human ensembl 74_37 +1 known silent c.784 p.L262 0.051 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom - no_errors UMPS HGNC ENSG00000114491 tier1 - - 32 0 0.00 24 6 20.00 70 0 0.00 82 24 22.64 LHX8 0 genome.wustl.edu 37 1 75609535 75609535 + Missense_Mutation SNP G G T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 75609535 75609535 G T SNP LHX8 ENST00000294638 human ensembl 74_37 +1 known missense c.616 p.G206W 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX8 HGNC ENSG00000162624 tier1 - - 47 0 0.00 66 13 16.46 127 0 0.00 158 42 21.00 OR2AG2 0 genome.wustl.edu 37 11 6789507 6789507 + Missense_Mutation SNP T T C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 11 6789507 6789507 T C SNP OR2AG2 ENST00000338569 human ensembl 74_37 -1 known missense c.682 p.M228V 0.008 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 tier1 - - 85 0 0.00 23 32 58.18 82 0 0.00 43 79 64.75 OR8S1 0 genome.wustl.edu 37 12 48919809 48919809 + Missense_Mutation SNP A A G TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 12 48919809 48919809 A G SNP OR8S1 ENST00000310194 human ensembl 74_37 +1 known missense c.395 p.Y132C 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 tier1 - - 65 0 0.00 30 29 49.15 41 0 0.00 13 22 62.86 KIAA1217 0 genome.wustl.edu 37 10 24762620 24762620 + Missense_Mutation SNP A A T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 10 24762620 24762620 A T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.1310 p.N437I 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 - - 37 0 0.00 0 12 100.00 84 0 0.00 11 73 86.90 WRAP53 0 genome.wustl.edu 37 17 7592062 7592062 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 17 7592062 7592062 G A SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.96 p.M32I 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 tier1 - - 25 0 0.00 11 33 75.00 70 0 0.00 23 73 76.04 FCHSD1 0 genome.wustl.edu 37 5 141025697 141025697 + Missense_Mutation SNP T T C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 5 141025697 141025697 T C SNP FCHSD1 ENST00000435817 human ensembl 74_37 -1 known missense c.1106 p.E369G 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FCHSD1 HGNC ENSG00000197948 tier1 - - 58 0 0.00 17 5 22.73 60 0 0.00 51 6 10.53 C14orf39 0 genome.wustl.edu 37 14 60938375 60938375 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 14 60938375 60938375 G A SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known missense c.406 p.R136C 0.351 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 tier1 rs34082126 - 33 0 0.00 20 5 20.00 78 0 0.00 71 9 11.11 KLK11 0 genome.wustl.edu 37 19 51525868 51525868 + Missense_Mutation SNP T T A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 19 51525868 51525868 T A SNP KLK11 ENST00000594768 human ensembl 74_37 -1 known missense c.782 p.K261M 0.998 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK11 HGNC ENSG00000167757 tier1 - - 26 0 0.00 14 5 26.32 65 0 0.00 54 11 16.92 SETX 0 genome.wustl.edu 37 9 135140048 135140048 + Missense_Mutation SNP C C G TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 9 135140048 135140048 C G SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.7699 p.D2567H 1.000 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 tier1 - - 102 0 0.00 72 11 13.25 150 0 0.00 96 30 23.62 KLF4 0 genome.wustl.edu 37 9 110249601 110249601 + Silent SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 9 110249601 110249601 C T SNP KLF4 ENST00000374672 human ensembl 74_37 -1 known silent c.1074 p.P358 0.065 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 tier1 - - 23 0 0.00 11 7 38.89 60 0 0.00 44 12 21.43 DOCK8 0 genome.wustl.edu 37 9 432324 432324 + Missense_Mutation SNP G G T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 9 432324 432324 G T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.4785 p.Q1595H 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 19 0 0.00 15 5 25.00 101 0 0.00 90 11 10.89 TOPBP1 0 genome.wustl.edu 37 3 133342943 133342943 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 3 133342943 133342943 C T SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.2881 p.V961I 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 tier1 - - 11 0 0.00 21 13 37.14 94 0 0.00 96 71 42.51 COL19A1 0 genome.wustl.edu 37 6 70916680 70916680 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 6 70916680 70916680 C T SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.3299 p.S1100L 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 rs148400214 - 56 0 0.00 46 43 48.31 133 0 0.00 89 79 47.02 SLC44A3 0 genome.wustl.edu 37 1 95290119 95290119 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 95290119 95290119 G A SNP SLC44A3 ENST00000271227 human ensembl 74_37 +1 known missense c.206 p.G69D 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 tier1 rs148935541 GMAF=0.0005 49 0 0.00 39 12 23.53 102 0 0.00 132 33 20.00 FAM178A 0 genome.wustl.edu 37 10 102684152 102684152 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 10 102684152 102684152 C T SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.1394 p.T465M 0.249 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 tier1 - - 20 0 0.00 6 4 40.00 115 0 0.00 61 40 39.60 IFI44L 0 genome.wustl.edu 37 1 79102855 79102855 + Missense_Mutation SNP G G T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 79102855 79102855 G T SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.1015 p.V339L 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 tier1 - - 50 0 0.00 36 36 49.32 79 1 1.25 87 68 43.87 IFI44L 0 genome.wustl.edu 37 1 79102851 79102851 + Frame_Shift_Del DEL A A - TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 79102851 79102851 A - DEL IFI44L ENST00000370751 human ensembl 74_37 +1 known frame_shift_del c.1011 p.V339fs 0.003 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 tier1 51 0 0.00 42 31 42.47 81 0 0.00 93 64 40.76 PPAP2A 0 genome.wustl.edu 37 5 54721120 54721125 + In_Frame_Del DEL TAAAAG TAAAAG - TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 TAAAAG TAAAAG TAAAAG - TAAAAG TAAAAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 5 54721120 54721125 TAAAAG - DEL PPAP2A ENST00000264775 human ensembl 74_37 -1 known in_frame_del c.772_767 p.SFKERK256in_frame_del* 1.000:0.996:0.992:0.978:0.060:0.072 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2A HGNC ENSG00000067113 tier1 91 0 0.00 53 21 28.38 91 0 0.00 53 21 28.38 LPAR5 0 genome.wustl.edu 37 12 6729465 6729465 + Missense_Mutation SNP G G T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 12 6729465 6729465 G T SNP LPAR5 ENST00000329858 human ensembl 74_37 -1 known missense c.950 p.A317D 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR5 HGNC ENSG00000184574 tier1 - - 28 0 0.00 9 6 40.00 6 0 0.00 3 2 40.00 MYRF 0 genome.wustl.edu 37 11 61547653 61547653 + Missense_Mutation SNP G G T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 11 61547653 61547653 G T SNP MYRF ENST00000327797 human ensembl 74_37 +1 known missense c.1343 p.G448V 0.009 NULL pfam_NDT80_D-bd_dom,superfamily_p53-like_TF_D-bd - no_errors MYRF HGNC ENSG00000124920 tier1 - - 51 0 0.00 3 31 91.18 78 0 0.00 5 37 88.10 N4BP2L1 0 genome.wustl.edu 37 13 32976895 32976895 + R SNP C C G TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 13 32976895 32976895 C G SNP N4BP2L1 ENST00000459716 human ensembl 74_37 -1 known rna NULL NULL 0.662 - - - no_errors N4BP2L1 HGNC ENSG00000139597 tier1 - - 32 0 0.00 3 36 92.31 149 0 0.00 9 49 84.48 NUFIP1 0 genome.wustl.edu 37 13 45517719 45517719 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 13 45517719 45517719 G A SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known missense c.1229 p.A410V 0.002 NULL pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 tier1 - - 81 0 0.00 12 56 82.35 19 0 0.00 0 15 100.00 NUTM2F 0 genome.wustl.edu 37 9 97088084 97088084 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 9 97088084 97088084 G A SNP NUTM2F ENST00000253262 human ensembl 74_37 -1 known missense c.149 p.P50L 0.008 NULL NULL - no_errors NUTM2F HGNC ENSG00000130950 tier1 - - 113 0 0.00 52 29 35.80 11 0 0.00 6 2 25.00 PSG1 0 genome.wustl.edu 37 19 43375964 43375964 + Missense_Mutation SNP G G T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 19 43375964 43375964 G T SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.664 p.P222T 0.006 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 175 0 0.00 111 34 23.45 25 0 0.00 9 7 43.75 RB1 0 genome.wustl.edu 37 13 49054629 49054629 + R SNP A A C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 13 49054629 49054629 A C SNP RB1 ENST00000484879 human ensembl 74_37 +1 known rna NULL NULL 0.153 - - - no_errors RB1 HGNC ENSG00000139687 tier1 - - 25 0 0.00 2 21 91.30 55 0 0.00 4 41 91.11 CD3EAP 0 genome.wustl.edu 37 19 45910444 45910444 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 19 45910444 45910444 G A SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.121 p.D41N 0.022 pfam_D-dir_R_pol1_su_RPA34 pfam_D-dir_R_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 tier1 - - 55 0 0.00 38 6 13.64 84 0 0.00 59 6 9.23 REV1 0 genome.wustl.edu 37 2 100055179 100055179 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 2 100055179 100055179 C T SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.1097 p.C366Y 1.000 pirsf_REV1 pfam_D_repair_prot_UmuC-like,pfam_D_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_D_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_D_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 tier1 - - 33 0 0.00 27 4 12.50 82 0 0.00 99 4 3.88 SYNPR 0 genome.wustl.edu 37 3 63600972 63600972 + Missense_Mutation SNP T T C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 3 63600972 63600972 T C SNP SYNPR ENST00000478300 human ensembl 74_37 +1 known missense c.673 p.S225P 0.994 NULL pfam_Marvel,prints_Synaptophysin/porin - no_errors SYNPR HGNC ENSG00000163630 tier1 - - 51 0 0.00 60 7 10.45 81 0 0.00 88 6 6.38 HLA-DOA 0 genome.wustl.edu 37 6 32975312 32975312 + Missense_Mutation SNP A A T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 6 32975312 32975312 A T SNP HLA-DOA ENST00000229829 human ensembl 74_37 -1 known missense c.389 p.I130N 0.303 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOA HGNC ENSG00000204252 tier1 - - 46 0 0.00 29 4 12.12 29 1 3.33 26 19 42.22 CNIH2 0 genome.wustl.edu 37 11 66045946 66045946 + Missense_Mutation SNP G G T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 11 66045946 66045946 G T SNP CNIH2 ENST00000311445 human ensembl 74_37 +1 known missense c.19 p.A7S 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH2 HGNC ENSG00000174871 tier1 - - 25 0 0.00 10 4 28.57 15 0 0.00 8 0 0.00 CROCC 0 genome.wustl.edu 37 1 17265593 17265593 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 17265593 17265593 G A SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.1564 p.A522T 0.953 NULL superfamily_Prefoldin,superfamily_t-SRE - no_errors CROCC HGNC ENSG00000058453 tier1 - - 85 0 0.00 34 13 27.66 6 0 0.00 6 0 0.00 TMEM125 0 genome.wustl.edu 37 1 43738733 43738733 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 43738733 43738733 G A SNP TMEM125 ENST00000432792 human ensembl 74_37 +1 known missense c.340 p.A114T 0.133 NULL NULL - no_errors TMEM125 HGNC ENSG00000179178 tier1 - - 86 0 0.00 71 13 15.48 5 0 0.00 9 0 0.00 AR 0 genome.wustl.edu 37 X 66765152 66765152 + Missense_Mutation SNP T T A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd X 66765152 66765152 T A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.164 p.L55Q 0.960 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 24 0 0.00 33 10 23.26 2 0 0.00 3 0 0.00 GOLGA6C 0 genome.wustl.edu 37 15 75557687 75557687 + Silent SNP A A T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 15 75557687 75557687 A T SNP GOLGA6C ENST00000300576 human ensembl 74_37 +1 known silent c.681 p.L227 0.271 NULL NULL - no_errors GOLGA6C HGNC ENSG00000167195 tier1 - - 181 1 0.54 57 77 57.46 2 0 0.00 0 0 0.00 SPEG 0 genome.wustl.edu 37 2 220330643 220330650 + R DEL GTGCGCGC GTGCGCGC - TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 GTGCGCGC GTGCGCGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 2 220330643 220330650 GTGCGCGC - DEL SPEG ENST00000462545 human ensembl 74_37 +1 known rna NULL NULL 0.057:0.016:0.015:0.006:0.004:0.001:0.002:0.003 - - - no_errors SPEG HGNC ENSG00000072195 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 TCHH 0 genome.wustl.edu 37 1 152084230 152084235 + In_Frame_Del DEL CAACGT CAACGT - TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 CAACGT CAACGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 1 152084230 152084235 CAACGT - DEL TCHH ENST00000368804 human ensembl 74_37 -1 known in_frame_del c.1463_1458 p.RW487in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 2 0 0.00 6 0 0.00 2 0 0.00 6 0 0.00 AZI1 0 genome.wustl.edu 37 17 79163639 79163639 + Missense_Mutation SNP G G A TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 17 79163639 79163639 G A SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.3182 p.A1061V 0.988 NULL superfamily_t-SRE - no_errors AZI1 HGNC ENSG00000141577 tier1 - - 73 0 0.00 18 39 68.42 4 0 0.00 4 2 33.33 EVPL 0 genome.wustl.edu 37 17 74003381 74003381 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 20e81635-4d39-4b8f-aec6-3f96bc5d82ac 19773673-43e9-4c0d-acb8-9677ef088dcd 17 74003381 74003381 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.5905 p.A1969T 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 - - 77 0 0.00 73 15 17.05 31 0 0.00 28 2 6.25