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 USH2A 0 genome.wustl.edu 37 1 216172255 216172255 + Missense_Mutation SNP C C T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 1 216172255 216172255 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.6631 p.G2211S 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 86 0 0.00 92 59 39.07 132 0 0.00 86 78 47.56 STARD9 0 genome.wustl.edu 37 15 42979664 42979664 + Missense_Mutation SNP C C T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 15 42979664 42979664 C T SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.5888 p.A1963V 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 30 0 0.00 37 8 17.78 152 0 0.00 94 33 25.98 PRDM9 0 genome.wustl.edu 37 5 23523452 23523452 + Missense_Mutation SNP G G T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 5 23523452 23523452 G T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.935 p.W312L 0.004 pfscan_SET_dom pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 96 0 0.00 102 94 47.96 52 0 0.00 44 30 40.54 NSMAF 0 genome.wustl.edu 37 8 59499075 59499075 + Silent SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 8 59499075 59499075 G A SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known silent c.2481 p.T827 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 tier1 - - 125 0 0.00 140 85 37.78 180 0 0.00 72 78 52.00 POU6F2 0 genome.wustl.edu 37 7 39247149 39247149 + Silent SNP C C A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 7 39247149 39247149 C A SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known silent c.441 p.T147 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_D-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 tier1 - - 38 0 0.00 44 20 31.25 85 0 0.00 45 19 29.69 GPC6 0 genome.wustl.edu 37 13 94482415 94482415 + Nonsense_Mutation SNP C C T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 13 94482415 94482415 C T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known nonsense c.328 p.R110* 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 90 0 0.00 163 27 14.21 94 0 0.00 83 16 16.16 TBC1D1 0 genome.wustl.edu 37 4 37904015 37904015 + Missense_Mutation SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 4 37904015 37904015 G A SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.299 p.R100H 0.163 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 tier1 - - 37 0 0.00 77 60 43.80 167 0 0.00 63 51 44.74 GPR126 0 genome.wustl.edu 37 6 142711416 142711416 + Missense_Mutation SNP C C A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 6 142711416 142711416 C A SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.1244 p.S415Y 0.965 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 tier1 - - 41 0 0.00 61 19 23.75 93 0 0.00 71 16 18.39 IMPG1 0 genome.wustl.edu 37 6 76734971 76734971 + Missense_Mutation SNP C C T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 6 76734971 76734971 C T SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.502 p.D168N 1.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 tier1 - - 31 0 0.00 34 8 19.05 72 0 0.00 50 10 16.39 TLR3 0 genome.wustl.edu 37 4 186997801 186997801 + Missense_Mutation SNP T T A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 4 186997801 186997801 T A SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known missense c.28 p.F10I 0.003 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 tier1 - - 42 0 0.00 56 39 41.05 66 0 0.00 63 49 43.75 TRIM45 0 genome.wustl.edu 37 1 117663697 117663697 + Missense_Mutation SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 1 117663697 117663697 G A SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known missense c.127 p.P43S 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 tier1 - - 28 0 0.00 27 28 50.91 59 0 0.00 28 21 42.86 C19orf45 0 genome.wustl.edu 37 19 7573142 7573142 + Silent SNP A A G TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 19 7573142 7573142 A G SNP C19orf45 ENST00000361664 human ensembl 74_37 +1 known silent c.1344 p.S448 0.022 NULL NULL - no_errors C19orf45 HGNC ENSG00000198723 tier1 - - 47 0 0.00 69 41 37.27 85 0 0.00 45 35 43.75 DLGAP1 0 genome.wustl.edu 37 18 3814090 3814090 + Missense_Mutation SNP G G C TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 18 3814090 3814090 G C SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.1141 p.Q381E 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 tier1 - - 32 0 0.00 25 25 50.00 110 0 0.00 64 44 40.74 SCN9A 0 genome.wustl.edu 37 2 167144952 167144952 + Missense_Mutation SNP C C G TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 2 167144952 167144952 C G SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.1312 p.A438P 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 62 0 0.00 99 69 41.07 89 0 0.00 86 27 23.89 ENSG00000254553 0 genome.wustl.edu 37 1 32936253 32936253 + Missense_Mutation SNP C C A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 1 32936253 32936253 C A SNP ENSG00000254553 ENST00000480336 human ensembl 74_37 +1 known missense c.28 p.L10I 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors RP1-27O5.3 Clone_based_vega_gene ENSG00000254553 tier1 - - 47 0 0.00 19 46 70.77 104 0 0.00 10 50 83.33 PKDREJ 0 genome.wustl.edu 37 22 46655314 46655314 + Silent SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 22 46655314 46655314 G A SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known silent c.3906 p.N1302 0.003 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 tier1 rs150338973 - 41 0 0.00 111 20 15.27 148 1 0.67 141 21 12.96 CDHR4 0 genome.wustl.edu 37 3 49830600 49830600 + Missense_Mutation SNP C C T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 3 49830600 49830600 C T SNP CDHR4 ENST00000412678 human ensembl 74_37 -1 known missense c.1768 p.V590M 0.789 superfamily_Cadherin-like pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 tier1 - - 60 0 0.00 96 17 14.91 90 0 0.00 86 17 16.50 BAG4 0 genome.wustl.edu 37 8 38067571 38067571 + Missense_Mutation SNP C C A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 8 38067571 38067571 C A SNP BAG4 ENST00000287322 human ensembl 74_37 +1 known missense c.934 p.H312N 1.000 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 tier1 - - 39 0 0.00 47 30 38.96 42 0 0.00 22 18 45.00 PLOD2 0 genome.wustl.edu 37 3 145788914 145788914 + Missense_Mutation SNP T T A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 3 145788914 145788914 T A SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.2036 p.E679V 0.991 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 tier1 - - 47 0 0.00 56 35 38.46 118 0 0.00 60 44 42.31 NCLN 0 genome.wustl.edu 37 19 3206314 3206314 + Missense_Mutation SNP C C G TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 19 3206314 3206314 C G SNP NCLN ENST00000246117 human ensembl 74_37 +1 known missense c.1390 p.R464G 0.957 pirsf_Nicalin pfam_Peptidase_M28,pfam_Nicastrin,pirsf_Nicalin - no_errors NCLN HGNC ENSG00000125912 tier1 - - 14 0 0.00 15 9 37.50 19 0 0.00 13 7 35.00 LHFPL4 0 genome.wustl.edu 37 3 9547832 9547832 + Silent SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 3 9547832 9547832 G A SNP LHFPL4 ENST00000287585 human ensembl 74_37 -1 known silent c.462 p.T154 0.894 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 tier1 - - 61 0 0.00 63 52 45.22 87 0 0.00 39 40 50.63 LRRIQ3 0 genome.wustl.edu 37 1 74540359 74540359 + Missense_Mutation SNP T T C TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 1 74540359 74540359 T C SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.983 p.H328R 0.155 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 46 0 0.00 58 37 38.95 110 0 0.00 61 40 39.60 ZNF236 0 genome.wustl.edu 37 18 74583683 74583683 + Missense_Mutation SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 18 74583683 74583683 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.563 p.R188Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 tier1 - - 51 0 0.00 37 28 43.08 170 0 0.00 48 66 57.89 DJC5B 0 genome.wustl.edu 37 8 67012211 67012211 + Missense_Mutation SNP A A G TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 8 67012211 67012211 A G SNP DJC5B ENST00000276570 human ensembl 74_37 +1 known missense c.545 p.N182S 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJC5B HGNC ENSG00000147570 tier1 - - 121 0 0.00 146 115 44.06 123 1 0.81 79 43 35.25 SLC22A8 0 genome.wustl.edu 37 11 62762013 62762013 + Splice_Site SNP C C A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 11 62762013 62762013 C A SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known splice_site c.1216+1 e7+1 1.000 - - - no_errors SLC22A8 HGNC ENSG00000149452 tier1 - - 25 0 0.00 27 6 18.18 50 0 0.00 28 19 40.43 SMOC1 0 genome.wustl.edu 37 14 70490038 70490038 + Missense_Mutation SNP C C T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 14 70490038 70490038 C T SNP SMOC1 ENST00000361956 human ensembl 74_37 +1 known missense c.1165 p.R389C 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 tier1 - - 28 0 0.00 30 21 41.18 107 0 0.00 46 51 52.58 EHD1 0 genome.wustl.edu 37 11 64621782 64621782 + R SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 11 64621782 64621782 G A SNP EHD1 ENST00000488711 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors EHD1 HGNC ENSG00000110047 tier1 - - 69 0 0.00 78 53 40.46 37 0 0.00 27 14 34.15 FAT3 0 genome.wustl.edu 37 11 92531873 92531873 + Silent SNP T T G TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 11 92531873 92531873 T G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.5694 p.V1898 0.248 superfamily_Cadherin-like pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 40 0 0.00 48 29 37.66 180 0 0.00 68 71 50.71 TNS1 0 genome.wustl.edu 37 2 218723259 218723259 + R SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 2 218723259 218723259 G A SNP TNS1 ENST00000480665 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TNS1 HGNC ENSG00000079308 tier1 - - 34 0 0.00 59 32 35.16 90 0 0.00 39 35 47.30 CA12 0 genome.wustl.edu 37 15 63618489 63618489 + Missense_Mutation SNP C C G TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 15 63618489 63618489 C G SNP CA12 ENST00000178638 human ensembl 74_37 -1 known missense c.1060 p.A354P 0.506 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA12 HGNC ENSG00000074410 tier1 - - 74 0 0.00 81 87 51.79 108 0 0.00 57 38 40.00 CARS2 0 genome.wustl.edu 37 13 111357899 111357899 + Missense_Mutation SNP C C G TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 13 111357899 111357899 C G SNP CARS2 ENST00000257347 human ensembl 74_37 -1 known missense c.244 p.V82L 0.998 pfam_Cys-tR/MSH_ligase,prints_Cys-tR/MSH_ligase,tigrfam_Cys-tR-ligase pfam_Cys-tR/MSH_ligase,pfam_Methionyl/Leucyl_tR_Synth,pfam_aa-tR-synth_Ia,superfamily_tRsynth_1a_anticodon-bd,prints_Cys-tR/MSH_ligase,tigrfam_Cys-tR-ligase - no_errors CARS2 HGNC ENSG00000134905 tier1 - - 29 0 0.00 33 20 37.74 137 0 0.00 92 44 32.35 PMF1 0 genome.wustl.edu 37 1 156195368 156195396 + Frame_Shift_Del DEL ACGGAAGTGCTGGTCCCCGCCTGCCCTCT ACGGAAGTGCTGGTCCCCGCCTGCCCTCT - TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 ACGGAAGTGCTGGTCCCCGCCTGCCCTCT ACGGAAGTGCTGGTCCCCGCCTGCCCTCT ACGGAAGTGCTGGTCCCCGCCTGCCCTCT - ACGGAAGTGCTGGTCCCCGCCTGCCCTCT ACGGAAGTGCTGGTCCCCGCCTGCCCTCT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 1 156195368 156195396 ACGGAAGTGCTGGTCCCCGCCTGCCCTCT - DEL PMF1 ENST00000368273 human ensembl 74_37 +1 known frame_shift_del c.182_210 p.D61fs 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.440:0.512:0.591:0.968:0.997:1.000:0.999:0.988:0.964:0.869 NULL pfam_Nnf1 - no_errors PMF1 HGNC ENSG00000160783 tier1 78 0 0.00 34 5 12.82 78 0 0.00 34 5 12.82 CBX7 0 genome.wustl.edu 37 22 39516197 39516198 + R INS - - T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 22 39516197 39516198 - T INS CBX7 ENST00000475962 human ensembl 74_37 -1 known rna NULL NULL 0.190:0.272 - - - no_errors CBX7 HGNC ENSG00000100307 tier1 11 0 0.00 12 4 25.00 8 0 0.00 10 3 23.08 LINC00359 0 genome.wustl.edu 37 13 97600392 97600392 + R DEL C C - TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 13 97600392 97600392 C - DEL LINC00359 ENST00000442322 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00359 HGNC ENSG00000243300 tier1 49 0 0.00 68 29 29.90 112 0 0.00 54 20 27.03 SURF6 0 genome.wustl.edu 37 9 136198995 136199015 + In_Frame_Del DEL CCTCCAGCTCCTGCGCCTTCC CCTCCAGCTCCTGCGCCTTCC - TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 CCTCCAGCTCCTGCGCCTTCC CCTCCAGCTCCTGCGCCTTCC CCTCCAGCTCCTGCGCCTTCC - CCTCCAGCTCCTGCGCCTTCC CCTCCAGCTCCTGCGCCTTCC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 9 136198995 136199015 CCTCCAGCTCCTGCGCCTTCC - DEL SURF6 ENST00000372022 human ensembl 74_37 -1 known in_frame_del c.796_776 p.GKAQELE259in_frame_del 0.341:0.858:0.996:0.998:0.989:0.996:0.996:0.998:0.999:0.997:0.926:0.236:0.248:0.246:0.979:0.994:0.929:0.700:0.233:0.002:0.003 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 tier1 49 0 0.00 31 6 16.22 49 0 0.00 31 6 16.22 KIAA0196 0 genome.wustl.edu 37 8 126056836 126056837 + Frame_Shift_Ins INS - - T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 8 126056836 126056837 - T INS KIAA0196 ENST00000318410 human ensembl 74_37 -1 known frame_shift_ins c.2609_2608 p.T870fs 1.000:1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 tier1 82 0 0.00 123 26 17.45 113 0 0.00 86 22 20.37 FST 0 genome.wustl.edu 37 5 52781023 52781023 + Frame_Shift_Del DEL G G - TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 5 52781023 52781023 G - DEL FST ENST00000256759 human ensembl 74_37 +1 known frame_shift_del c.918 p.L307fs 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FST HGNC ENSG00000134363 tier1 27 0 0.00 54 39 41.94 46 0 0.00 26 17 39.53 PRDM16 0 genome.wustl.edu 37 1 3322205 3322206 + Frame_Shift_Ins INS - - TG TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 - - - TG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 1 3322205 3322206 - TG INS PRDM16 ENST00000270722 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.F393fs 0.994:1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 26 0 0.00 10 17 62.96 31 0 0.00 1 2 66.67 SDK1 0 genome.wustl.edu 37 7 4169604 4169604 + Missense_Mutation SNP C C T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 7 4169604 4169604 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.4004 p.T1335M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 rs140791078 - 61 0 0.00 58 21 26.58 18 0 0.00 7 3 30.00 SORCS1 0 genome.wustl.edu 37 10 108924057 108924057 + Silent SNP G G T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 10 108924057 108924057 G T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.228 p.P76 0.799 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 14 0 0.00 15 5 25.00 5 0 0.00 0 2 100.00 TSPAN32 0 genome.wustl.edu 37 11 2334970 2334970 + Silent SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 11 2334970 2334970 G A SNP TSPAN32 ENST00000182290 human ensembl 74_37 +1 known silent c.441 p.A147 0.036 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 - no_errors TSPAN32 HGNC ENSG00000064201 tier1 - - 135 0 0.00 111 15 11.90 18 0 0.00 9 2 18.18 SAMD9 0 genome.wustl.edu 37 7 92731334 92731334 + Missense_Mutation SNP T T C TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 7 92731334 92731334 T C SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.4077 p.I1359M 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 - - 45 0 0.00 101 10 9.01 86 0 0.00 68 6 8.11 IFT122 0 genome.wustl.edu 37 3 129226538 129226538 + Missense_Mutation SNP G G T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 3 129226538 129226538 G T SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.2972 p.G991V 0.031 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 tier1 - - 46 0 0.00 55 7 11.29 114 0 0.00 96 10 9.43 GPR112 0 genome.wustl.edu 37 X 135431967 135431967 + Silent SNP A A G TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e X 135431967 135431967 A G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.6102 p.T2034 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 30 0 0.00 90 14 13.46 99 0 0.00 87 9 9.38 ZNF251 0 genome.wustl.edu 37 8 145947028 145947029 + Frame_Shift_Del DEL AT AT - TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 AT AT AT - AT AT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 8 145947028 145947029 AT - DEL ZNF251 ENST00000292562 human ensembl 74_37 -1 known frame_shift_del c.2017_2016 p.*672fs 0.001:0.013 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 ZNF251 HGNC ENSG00000198169 tier1 26 0 0.00 50 10 16.67 55 0 0.00 40 4 9.09 TSPYL2 0 genome.wustl.edu 37 X 53115089 53115109 + In_Frame_Del DEL TGACAACAATGAGAGTGCAGA TGACAACAATGAGAGTGCAGA - TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 TGACAACAATGAGAGTGCAGA TGACAACAATGAGAGTGCAGA TGACAACAATGAGAGTGCAGA - TGACAACAATGAGAGTGCAGA TGACAACAATGAGAGTGCAGA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e X 53115089 53115109 TGACAACAATGAGAGTGCAGA - DEL TSPYL2 ENST00000375442 human ensembl 74_37 +1 known in_frame_del c.1515_1535 p.ESADDNN509in_frame_del 0.026:0.024:0.015:0.010:0.008:0.008:0.005:0.003:0.001:0.000:0.001:0.001:0.001:0.002:0.001:0.000:0.000:0.001:0.000:0.000:0.025 NULL pfam_P_family - no_errors TSPYL2 HGNC ENSG00000184205 tier1 130 0 0.00 103 10 8.85 130 0 0.00 103 10 8.85 PCDHGA2 0 genome.wustl.edu 37 5 140720410 140720410 + Silent SNP C C T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 5 140720410 140720410 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.1872 p.G624 0.045 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 tier1 - - 201 0 0.00 280 42 13.00 8 0 0.00 6 0 0.00 PIGQ 0 genome.wustl.edu 37 16 624230 624230 + Silent SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 16 624230 624230 G A SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known silent c.156 p.V52 0.998 NULL pfam_Glcc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 tier1 - - 52 0 0.00 26 33 55.00 8 0 0.00 3 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102299838 102299838 + R SNP G G C TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 15 102299838 102299838 G C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 19 0 0.00 28 6 17.65 0 0 0.00 0 0 0.00 ENSG00000221684 0 genome.wustl.edu 37 X 70979225 70979246 + R DEL CGCGTGCACATGTGCGCGCGCG CGCGTGCACATGTGCGCGCGCG - TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 CGCGTGCACATGTGCGCGCGCG CGCGTGCACATGTGCGCGCGCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e X 70979225 70979246 CGCGTGCACATGTGCGCGCGCG - DEL ENSG00000221684 ENST00000408757 human ensembl 74_37 -1 novel rna NULL NULL 0.004:0.003:0.004:0.004:0.003:0.005:0.006:0.010:0.014:0.017:0.020:0.023:0.026:0.028:0.030:0.031:0.032:0.033:0.033:0.033:0.033:0.033 - - - no_errors BX276092.1 Clone_based_ensembl_gene ENSG00000221684 tier1 2 0 0.00 2 0 0.00 2 0 0.00 2 0 0.00 INCENP 0 genome.wustl.edu 37 11 61914294 61914294 + Silent SNP G G C TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 11 61914294 61914294 G C SNP INCENP ENST00000394818 human ensembl 74_37 +1 known silent c.2124 p.R708 0.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 tier1 - - 30 0 0.00 63 8 11.27 1 0 0.00 0 0 0.00 MAGI1 0 genome.wustl.edu 37 3 65425575 65425576 + Frame_Shift_Ins INS - - T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 3 65425575 65425576 - T INS MAGI1 ENST00000402939 human ensembl 74_37 -1 known frame_shift_ins c.1249_1248 p.Q416fs 0.437:0.220 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 tier1 61 0 0.00 108 12 10.00 3 0 0.00 3 0 0.00 MIR3118-6 0 genome.wustl.edu 37 15 22049316 22049316 + R SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 15 22049316 22049316 G A SNP MIR3118-6 ENST00000582779 human ensembl 74_37 +1 known rna NULL NULL 0.145 - - - no_errors MIR3118-6 HGNC ENSG00000265793 tier1 - - 9 0 0.00 18 11 37.93 0 0 0.00 3 0 0.00 MT-TF 0 genome.wustl.edu 37 MT 617 617 + R SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e MT 617 617 G A SNP MT-TF ENST00000387314 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TF HGNC ENSG00000210049 tier1 - - 341 0 0.00 227 284 55.58 2 0 0.00 0 0 0.00 RPL23AP7 0 genome.wustl.edu 37 2 114369629 114369629 + R SNP G G T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 2 114369629 114369629 G T SNP RPL23AP7 ENST00000391616 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL23AP7 HGNC ENSG00000240356 tier1 rs112337169 - 28 0 0.00 44 14 24.14 3 0 0.00 1 0 0.00 SLC12A3 0 genome.wustl.edu 37 16 56901059 56901059 + Silent SNP C C T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 16 56901059 56901059 C T SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known silent c.360 p.G120 0.157 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 tier1 - - 55 0 0.00 40 4 9.09 3 0 0.00 8 0 0.00 WISP2 0 genome.wustl.edu 37 20 43343900 43343905 + R DEL GTGAGC GTGAGC - TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 GTGAGC GTGAGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 20 43343900 43343905 GTGAGC - DEL WISP2 ENST00000497421 human ensembl 74_37 +1 known rna NULL NULL 0.008:0.006:0.005:0.000:0.000:0.000 - - - no_errors WISP2 HGNC ENSG00000064205 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 HSD17B1 0 genome.wustl.edu 37 17 40705589 40705589 + Missense_Mutation SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 17 40705589 40705589 G A SNP HSD17B1 ENST00000585807 human ensembl 74_37 +1 known missense c.398 p.R133H 0.329 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC ENSG00000108786 tier1 - - 118 0 0.00 187 24 11.37 67 0 0.00 43 3 6.52 DPPA3P2 0 genome.wustl.edu 37 14 36840727 36840727 + R SNP T T A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 14 36840727 36840727 T A SNP DPPA3P2 ENST00000557188 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors DPPA3P2 HGNC ENSG00000188831 tier1 - - 76 0 0.00 134 14 9.46 61 0 0.00 51 3 5.56 C9orf171 0 genome.wustl.edu 37 9 135374153 135374153 + Silent SNP C C T TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 9 135374153 135374153 C T SNP C9orf171 ENST00000343036 human ensembl 74_37 +1 known silent c.375 p.I125 0.624 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 tier1 - - 56 0 0.00 94 10 9.62 65 0 0.00 61 2 3.17 SORCS1 0 genome.wustl.edu 37 10 108458981 108458981 + Missense_Mutation SNP G G C TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 10 108458981 108458981 G C SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1404 p.D468E 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 41 0 0.00 46 4 8.00 56 0 0.00 30 2 6.25 AHK 0 genome.wustl.edu 37 11 62298096 62298096 + Missense_Mutation SNP G G A TCGA-DX-A48P-01A-11D-A307-09 TCGA-DX-A48P-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3a574115-0820-47a8-a5fc-3cce465c23c3 6b704732-d99f-45ab-8e4b-ba2b8912031e 11 62298096 62298096 G A SNP AHK ENST00000378024 human ensembl 74_37 -1 known missense c.3793 p.P1265S 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 - - 203 0 0.00 300 47 13.51 32 0 0.00 28 3 9.68