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 SLC41A3 0 genome.wustl.edu 37 3 125725891 125725891 + Missense_Mutation SNP C C G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 3 125725891 125725891 C G SNP SLC41A3 ENST00000360370 human ensembl 74_37 -1 known missense c.1432 p.G478R 0.002 NULL pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC ENSG00000114544 tier1 - - 49 0 0.00 26 25 49.02 69 0 0.00 45 13 22.41 SERPI4 0 genome.wustl.edu 37 14 95030338 95030338 + Silent SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 14 95030338 95030338 C T SNP SERPI4 ENST00000298841 human ensembl 74_37 +1 known silent c.519 p.Y173 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPI4 HGNC ENSG00000100665 tier1 - - 54 0 0.00 27 14 34.15 127 0 0.00 64 79 55.24 KCNQ1 0 genome.wustl.edu 37 11 2798237 2798237 + Missense_Mutation SNP G G T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 11 2798237 2798237 G T SNP KCNQ1 ENST00000155840 human ensembl 74_37 +1 known missense c.1707 p.K569N 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 tier1 - - 118 0 0.00 63 62 49.60 85 0 0.00 41 42 50.60 ARHGAP30 0 genome.wustl.edu 37 1 161022453 161022453 + Missense_Mutation SNP G G C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 1 161022453 161022453 G C SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.799 p.R267G 0.994 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 tier1 - - 45 0 0.00 20 23 52.27 114 0 0.00 58 55 48.25 PDS5A 0 genome.wustl.edu 37 4 39851192 39851192 + Missense_Mutation SNP T T C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 4 39851192 39851192 T C SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.3167 p.N1056S 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 tier1 - - 87 0 0.00 31 28 47.46 90 0 0.00 50 58 53.70 WDFY3 0 genome.wustl.edu 37 4 85758160 85758160 + Silent SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 4 85758160 85758160 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.498 p.V166 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 89 0 0.00 34 38 52.78 107 0 0.00 57 52 47.71 COL12A1 0 genome.wustl.edu 37 6 75862069 75862069 + Missense_Mutation SNP C C A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 6 75862069 75862069 C A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.3695 p.G1232V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 42 0 0.00 21 17 44.74 91 0 0.00 53 52 49.52 ADCY2 0 genome.wustl.edu 37 5 7717343 7717343 + Missense_Mutation SNP G G T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 5 7717343 7717343 G T SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.1696 p.A566S 1.000 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 tier1 - - 44 0 0.00 28 18 39.13 63 0 0.00 42 35 45.45 UBE2C 0 genome.wustl.edu 37 20 44444191 44444191 + Missense_Mutation SNP C C A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 20 44444191 44444191 C A SNP UBE2C ENST00000356455 human ensembl 74_37 +1 known missense c.228 p.D76E 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2C HGNC ENSG00000175063 tier1 - - 59 0 0.00 28 25 47.17 71 0 0.00 36 40 52.63 DH8 0 genome.wustl.edu 37 6 38862564 38862564 + Missense_Mutation SNP A A G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 6 38862564 38862564 A G SNP DH8 ENST00000359357 human ensembl 74_37 +1 known missense c.8020 p.K2674E 0.999 superfamily_P-loop_NTPase 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 DH8 HGNC ENSG00000124721 tier1 - - 57 0 0.00 48 26 35.14 81 0 0.00 59 46 43.81 APC2 0 genome.wustl.edu 37 9 140075277 140075277 + Missense_Mutation SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 9 140075277 140075277 C T SNP APC2 ENST00000323927 human ensembl 74_37 -1 known missense c.1573 p.D525N 0.999 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors APC2 HGNC ENSG00000176248 tier1 - - 88 0 0.00 48 33 40.74 24 0 0.00 20 17 45.95 NWD1 0 genome.wustl.edu 37 19 16860069 16860069 + Silent SNP A A C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 19 16860069 16860069 A C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known silent c.616 p.R206 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 - - 45 0 0.00 28 24 46.15 94 0 0.00 38 46 54.76 CDH6 0 genome.wustl.edu 37 5 31323070 31323070 + Silent SNP C C G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 5 31323070 31323070 C G SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known silent c.2028 p.T676 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 64 0 0.00 36 34 48.57 98 0 0.00 51 71 58.20 GLI3 0 genome.wustl.edu 37 7 42007256 42007256 + Missense_Mutation SNP A A G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 7 42007256 42007256 A G SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2369 p.F790S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 93 0 0.00 45 46 50.55 130 0 0.00 62 61 49.19 UBE3B 0 genome.wustl.edu 37 12 109921780 109921780 + Silent SNP T T C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 12 109921780 109921780 T C SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known silent c.276 p.D92 0.957 superfamily_P-loop_NTPase 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 - - 18 0 0.00 11 4 26.67 85 0 0.00 57 36 38.71 PKHD1 0 genome.wustl.edu 37 6 51701242 51701242 + Silent SNP G G A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 6 51701242 51701242 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.8133 p.V2711 0.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 59 0 0.00 41 20 32.26 128 0 0.00 62 40 39.22 EML2 0 genome.wustl.edu 37 19 46137656 46137656 + Missense_Mutation SNP C C A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 19 46137656 46137656 C A SNP EML2 ENST00000587152 human ensembl 74_37 -1 known missense c.856 p.A286S 1.000 pfam_HELP,superfamily_Quinonprotein_ADH-like_supfam pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 tier1 - - 117 0 0.00 67 58 46.40 51 0 0.00 27 41 60.29 ATF7IP 0 genome.wustl.edu 37 12 14538308 14538308 + R SNP G G T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 12 14538308 14538308 G T SNP ATF7IP ENST00000541654 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors ATF7IP HGNC ENSG00000171681 tier1 - - 35 0 0.00 30 20 40.00 88 0 0.00 60 44 42.31 TRIB2 0 genome.wustl.edu 37 2 12858577 12858577 + Silent SNP G G C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 2 12858577 12858577 G C SNP TRIB2 ENST00000155926 human ensembl 74_37 +1 known silent c.144 p.P48 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TRIB2 HGNC ENSG00000071575 tier1 - - 59 0 0.00 16 35 68.63 66 0 0.00 30 13 30.23 FGD6 0 genome.wustl.edu 37 12 95604141 95604141 + Missense_Mutation SNP G G A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 12 95604141 95604141 G A SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.919 p.P307S 0.029 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 tier1 - - 42 0 0.00 22 24 52.17 123 0 0.00 78 71 47.65 HGF 0 genome.wustl.edu 37 7 81381428 81381428 + Nonstop_Mutation SNP T T A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 7 81381428 81381428 T A SNP HGF ENST00000423064 human ensembl 74_37 -1 known nonstop c.633 p.*211Y 1.000 NULL pfam_Kringle,pfam_PAN-1_domain,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,pfscan_Pan_app,pfscan_Kringle - no_errors HGF HGNC ENSG00000019991 tier1 - - 48 0 0.00 36 21 36.84 71 0 0.00 30 28 48.28 ZFHX4 0 genome.wustl.edu 37 8 77618128 77618128 + Missense_Mutation SNP G G C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 8 77618128 77618128 G C SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.1805 p.G602A 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 55 0 0.00 33 23 40.35 44 0 0.00 22 23 51.11 ACSL4 0 genome.wustl.edu 37 X 108887384 108887384 + Missense_Mutation SNP C C G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 X 108887384 108887384 C G SNP ACSL4 ENST00000340800 human ensembl 74_37 -1 known missense c.2010 p.K670N 0.999 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 tier1 - - 100 0 0.00 57 57 50.00 142 0 0.00 74 72 49.32 CLUH 0 genome.wustl.edu 37 17 2599458 2599458 + Missense_Mutation SNP C C G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 17 2599458 2599458 C G SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.2269 p.G757R 0.997 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 tier1 - - 133 0 0.00 73 68 48.23 42 0 0.00 22 24 52.17 HCFC1 0 genome.wustl.edu 37 X 153224895 153224895 + Missense_Mutation SNP T T C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 X 153224895 153224895 T C SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.1492 p.T498A 0.991 smart_Fibronectin_type3 pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 tier1 - - 83 0 0.00 29 44 59.46 91 0 0.00 66 33 33.00 PAN2 0 genome.wustl.edu 37 12 56726749 56726749 + Missense_Mutation SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 12 56726749 56726749 C T SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.130 p.V44M 1.000 NULL pfam_Exonuclease_RNaseT/D_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 tier1 - - 38 0 0.00 18 18 50.00 55 0 0.00 33 17 34.00 MAGEA11 0 genome.wustl.edu 37 X 148797280 148797280 + Missense_Mutation SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 X 148797280 148797280 C T SNP MAGEA11 ENST00000355220 human ensembl 74_37 +1 known missense c.209 p.A70V 0.002 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 tier1 - - 37 0 0.00 30 22 42.31 96 0 0.00 32 32 50.00 ZNF91 0 genome.wustl.edu 37 19 23541628 23541628 + R SNP T T C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 19 23541628 23541628 T C SNP ZNF91 ENST00000593341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF91 HGNC ENSG00000167232 tier1 - - 18 0 0.00 7 7 50.00 54 0 0.00 20 15 42.86 LINC00898 0 genome.wustl.edu 37 22 48021185 48021185 + R SNP A A G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 22 48021185 48021185 A G SNP LINC00898 ENST00000380990 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00898 HGNC ENSG00000205634 tier1 - - 53 0 0.00 25 22 46.81 57 0 0.00 50 20 28.57 SLC43A2 0 genome.wustl.edu 37 17 1516506 1516506 + Missense_Mutation SNP T T A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 17 1516506 1516506 T A SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known missense c.484 p.T162S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 tier1 - - 26 0 0.00 20 15 42.86 79 0 0.00 31 44 58.67 ZFP57 0 genome.wustl.edu 37 6 29643198 29643198 + Missense_Mutation SNP T T C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 6 29643198 29643198 T C SNP ZFP57 ENST00000488757 human ensembl 74_37 -1 known missense c.317 p.E106G 0.000 pfscan_Krueppel-associated_box 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 ZFP57 HGNC ENSG00000204644 tier1 - - 62 0 0.00 37 36 49.32 114 0 0.00 52 46 46.94 SPATA6L 0 genome.wustl.edu 37 9 4625444 4625444 + Silent SNP G G A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 9 4625444 4625444 G A SNP SPATA6L ENST00000454239 human ensembl 74_37 -1 known silent c.552 p.A184 0.000 NULL NULL - no_errors SPATA6L HGNC ENSG00000106686 tier1 - - 47 0 0.00 31 34 52.31 55 0 0.00 32 29 47.54 SIPA1L1 0 genome.wustl.edu 37 14 72190515 72190515 + Missense_Mutation SNP C C G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 14 72190515 72190515 C G SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.4423 p.P1475A 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 51 0 0.00 35 19 35.19 65 0 0.00 30 33 51.56 SLC34A1 0 genome.wustl.edu 37 5 176825332 176825332 + R SNP G G T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 5 176825332 176825332 G T SNP SLC34A1 ENST00000513614 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC34A1 HGNC ENSG00000131183 tier1 - - 51 0 0.00 24 27 52.94 52 0 0.00 19 20 50.00 ACP6 0 genome.wustl.edu 37 1 147119311 147119311 + Missense_Mutation SNP C C G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 1 147119311 147119311 C G SNP ACP6 ENST00000369238 human ensembl 74_37 -1 known missense c.1201 p.A401P 0.013 NULL pfam_His_Pase_superF_clade-2 - no_errors ACP6 HGNC ENSG00000162836 tier1 - - 55 0 0.00 29 29 49.15 67 0 0.00 32 30 48.39 PDE4A 0 genome.wustl.edu 37 19 10561315 10561315 + Missense_Mutation SNP G G T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 19 10561315 10561315 G T SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.657 p.K219N 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 tier1 - - 56 0 0.00 34 24 41.38 12 0 0.00 10 6 37.50 ABCA17P 0 genome.wustl.edu 37 16 2415783 2415783 + R SNP G G C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 16 2415783 2415783 G C SNP ABCA17P ENST00000469908 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ABCA17P HGNC ENSG00000238098 tier1 - - 38 0 0.00 24 28 53.85 87 0 0.00 52 44 45.36 ALDH1L1 0 genome.wustl.edu 37 3 125876260 125876260 + Missense_Mutation SNP A A T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 3 125876260 125876260 A T SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.454 p.C152S 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,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 - - 33 0 0.00 22 23 51.11 45 0 0.00 16 21 56.76 BAZ1B 0 genome.wustl.edu 37 7 72892896 72892896 + Missense_Mutation SNP T T C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 7 72892896 72892896 T C SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known missense c.895 p.M299V 0.993 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 tier1 - - 52 0 0.00 36 28 43.75 87 1 1.14 64 41 39.05 FAM129A 0 genome.wustl.edu 37 1 184767242 184767242 + Missense_Mutation SNP T T C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 1 184767242 184767242 T C SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.1637 p.H546R 0.941 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 tier1 - - 47 0 0.00 20 22 52.38 60 0 0.00 52 37 41.57 JAG1 0 genome.wustl.edu 37 20 10625797 10625797 + Missense_Mutation SNP T T G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 20 10625797 10625797 T G SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.2221 p.N741H 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 tier1 - - 43 0 0.00 24 25 51.02 118 0 0.00 59 50 45.87 DAAM1 0 genome.wustl.edu 37 14 59835718 59835718 + R SNP A A T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 14 59835718 59835718 A T SNP DAAM1 ENST00000553966 human ensembl 74_37 +1 known rna NULL NULL 0.957 - - - no_errors DAAM1 HGNC ENSG00000100592 tier1 - - 41 0 0.00 28 21 42.86 34 0 0.00 32 28 46.67 MYH4 0 genome.wustl.edu 37 17 10357193 10357193 + Missense_Mutation SNP C C G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 17 10357193 10357193 C G SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.2701 p.A901P 0.899 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 69 0 0.00 63 37 37.00 57 0 0.00 30 30 49.18 PPP2R5E 0 genome.wustl.edu 37 14 64010052 64010052 + R SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 14 64010052 64010052 C T SNP PPP2R5E ENST00000553266 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP2R5E HGNC ENSG00000154001 tier1 - - 23 0 0.00 15 6 28.57 57 0 0.00 55 37 40.22 ENSG00000204792 0 genome.wustl.edu 37 2 75157532 75157532 + R SNP C C G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 2 75157532 75157532 C G SNP ENSG00000204792 ENST00000377469 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors AC104135.3 Clone_based_vega_gene ENSG00000204792 tier1 - - 47 0 0.00 14 15 51.72 66 0 0.00 33 28 45.90 ABHD10 0 genome.wustl.edu 37 3 111710511 111710521 + Frame_Shift_Del DEL ACTTCTTGTTT ACTTCTTGTTT - TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 ACTTCTTGTTT ACTTCTTGTTT ACTTCTTGTTT - ACTTCTTGTTT ACTTCTTGTTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 3 111710511 111710521 ACTTCTTGTTT - DEL ABHD10 ENST00000273359 human ensembl 74_37 +1 known frame_shift_del c.864_874 p.L289fs 0.872:1.000:1.000:1.000:1.000:1.000:0.992:1.000:1.000:0.988:1.000 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9 - no_errors ABHD10 HGNC ENSG00000144827 tier1 97 0 0.00 62 13 17.33 97 0 0.00 62 13 17.33 ITGB8 0 genome.wustl.edu 37 7 20420428 20420428 + Frame_Shift_Del DEL G G - TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 7 20420428 20420428 G - DEL ITGB8 ENST00000222573 human ensembl 74_37 +1 known frame_shift_del c.775 p.A259fs 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 tier1 39 0 0.00 29 21 42.00 83 0 0.00 38 30 44.12 PDZD2 0 genome.wustl.edu 37 5 32087892 32087892 + Frame_Shift_Del DEL G G - TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 5 32087892 32087892 G - DEL PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_del c.4338 p.D1448fs 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 65 0 0.00 42 34 44.74 47 0 0.00 31 29 48.33 AHK2 0 genome.wustl.edu 37 14 105414679 105414679 + Missense_Mutation SNP G G C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 14 105414679 105414679 G C SNP AHK2 ENST00000333244 human ensembl 74_37 -1 known missense c.7109 p.P2370R 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK2 HGNC ENSG00000185567 tier1 - - 123 0 0.00 43 40 48.19 8 0 0.00 5 4 44.44 AOC3 0 genome.wustl.edu 37 17 41008501 41008501 + Silent SNP G G A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 17 41008501 41008501 G A SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known silent c.2226 p.L742 0.000 superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 tier1 - - 64 0 0.00 33 27 45.00 8 0 0.00 3 4 57.14 BEND3 0 genome.wustl.edu 37 6 107391548 107391548 + Missense_Mutation SNP C C A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 6 107391548 107391548 C A SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.847 p.D283Y 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 tier1 - - 70 0 0.00 32 31 49.21 11 0 0.00 4 3 42.86 CX3CR1 0 genome.wustl.edu 37 3 39307455 39307455 + Silent SNP G G C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 3 39307455 39307455 G C SNP CX3CR1 ENST00000358309 human ensembl 74_37 -1 known silent c.642 p.V214 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 tier1 - - 69 0 0.00 7 25 78.12 90 0 0.00 9 43 82.69 DOK2 0 genome.wustl.edu 37 8 21769858 21769858 + Missense_Mutation SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 8 21769858 21769858 C T SNP DOK2 ENST00000276420 human ensembl 74_37 -1 known missense c.227 p.S76N 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC ENSG00000147443 tier1 - - 25 0 0.00 12 9 42.86 10 0 0.00 5 2 28.57 ENSG00000226849 0 genome.wustl.edu 37 1 11131107 11131107 + R SNP C C A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 1 11131107 11131107 C A SNP ENSG00000226849 ENST00000452378 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP4-635E18.7 Clone_based_vega_gene ENSG00000226849 tier1 - - 25 0 0.00 4 19 82.61 124 0 0.00 9 44 83.02 MCL1 0 genome.wustl.edu 37 1 150551644 150551644 + Silent SNP C C A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 1 150551644 150551644 C A SNP MCL1 ENST00000369026 human ensembl 74_37 -1 known silent c.363 p.S121 0.714 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam - no_errors MCL1 HGNC ENSG00000143384 tier1 - - 37 0 0.00 18 19 51.35 9 0 0.00 8 3 27.27 MTMR14 0 genome.wustl.edu 37 3 9719070 9719070 + Missense_Mutation SNP A A G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 3 9719070 9719070 A G SNP MTMR14 ENST00000296003 human ensembl 74_37 +1 known missense c.821 p.Q274R 1.000 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 tier1 - - 51 0 0.00 5 19 79.17 98 0 0.00 1 59 98.33 RGS12 0 genome.wustl.edu 37 4 3432573 3432573 + Missense_Mutation SNP G G T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 4 3432573 3432573 G T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.4005 p.E1335D 0.664 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 - - 87 0 0.00 47 31 39.74 16 0 0.00 4 3 42.86 TSKU 0 genome.wustl.edu 37 11 76507673 76507673 + Missense_Mutation SNP A A G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 11 76507673 76507673 A G SNP TSKU ENST00000333090 human ensembl 74_37 +1 known missense c.1013 p.H338R 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors TSKU HGNC ENSG00000182704 tier1 - - 56 0 0.00 24 27 52.94 7 0 0.00 5 5 50.00 RNF165 0 genome.wustl.edu 37 18 44030349 44030349 + Missense_Mutation SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 18 44030349 44030349 C T SNP RNF165 ENST00000269439 human ensembl 74_37 +1 known missense c.706 p.R236W 0.990 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF165 HGNC ENSG00000141622 tier1 - - 67 0 0.00 34 12 26.09 106 2 1.85 73 47 39.17 LINGO1 0 genome.wustl.edu 37 15 77908078 77908078 + Silent SNP G G A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 15 77908078 77908078 G A SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known silent c.171 p.C57 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 25 0 0.00 25 4 13.79 5 0 0.00 0 0 0.00 LOC101927417 0 genome.wustl.edu 37 1 15654737 15654738 + R INS - - T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 1 15654737 15654738 - T INS LOC101927417 ENST00000428747 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002 - - - no_errors RP3-467K16.2 Clone_based_vega_gene ENSG00000233485 tier1 19 0 0.00 9 4 30.77 28 0 0.00 7 1 12.50 GDNF 0 genome.wustl.edu 37 5 37834785 37834785 + Silent SNP G G C TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 5 37834785 37834785 G C SNP GDNF ENST00000326524 human ensembl 74_37 -1 known silent c.114 p.L38 0.999 pirsf_GDNF pfam_TGF-b_C,smart_TGF-b_C,pirsf_GDNF - no_errors GDNF HGNC ENSG00000168621 tier1 - - 71 0 0.00 35 34 49.28 3 0 0.00 0 0 0.00 LRRC34 0 genome.wustl.edu 37 3 169530222 169530222 + Missense_Mutation SNP C C A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 3 169530222 169530222 C A SNP LRRC34 ENST00000446859 human ensembl 74_37 -1 known missense c.115 p.G39C 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 tier1 - - 9 0 0.00 6 5 45.45 2 0 0.00 6 1 14.29 RDH13 0 genome.wustl.edu 37 19 55574429 55574430 + R INS - - GGCGTCC TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 19 55574429 55574430 - GGCGTCC INS RDH13 ENST00000589305 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.003 - - - no_errors RDH13 HGNC ENSG00000160439 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00 WASH6P 0 genome.wustl.edu 37 X 155254556 155254556 + R SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 X 155254556 155254556 C T SNP WASH6P ENST00000461007 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 - - 11 0 0.00 12 7 36.84 0 0 0.00 0 0 0.00 TNK1 0 genome.wustl.edu 37 17 7287395 7287395 + Missense_Mutation SNP C C G TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 17 7287395 7287395 C G SNP TNK1 ENST00000576812 human ensembl 74_37 +1 known missense c.689 p.A230G 1.000 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,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK1 HGNC ENSG00000174292 tier1 - - 43 0 0.00 33 26 44.07 3 0 0.00 0 2 100.00 FAM160A2 0 genome.wustl.edu 37 11 6244051 6244051 + Missense_Mutation SNP G G A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 11 6244051 6244051 G A SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.1013 p.A338V 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 tier1 - - 34 0 0.00 33 4 10.81 112 0 0.00 96 3 2.97 SLC25A14 0 genome.wustl.edu 37 X 129492767 129492768 + R INS - - T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77c2c8cd-1275-4cb5-84f4-753622c380d2 9664ca55-37f1-47af-a918-25eba2554c04 X 129492767 129492768 - T INS SLC25A14 ENST00000464184 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors SLC25A14 HGNC ENSG00000102078 tier1 34 0 0.00 30 3 9.09 78 0 0.00 79 3 3.66