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 DH17 0 genome.wustl.edu 37 17 76420060 76420060 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 17 76420060 76420060 G A SNP DH17 ENST00000389840 human ensembl 74_37 -1 known missense c.13385 p.T4462I 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DH17 HGNC ENSG00000187775 tier1 - - 35 0 0.00 31 7 18.42 91 0 0.00 48 18 27.27 CALU 0 genome.wustl.edu 37 7 128394753 128394753 + Missense_Mutation SNP A A T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 7 128394753 128394753 A T SNP CALU ENST00000542996 human ensembl 74_37 +1 known missense c.416 p.N139I 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALU HGNC ENSG00000128595 tier1 - - 57 0 0.00 34 10 22.73 92 0 0.00 71 21 22.83 SPEG 0 genome.wustl.edu 37 2 220350080 220350080 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 2 220350080 220350080 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.7622 p.S2541N 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 - - 102 0 0.00 148 65 30.37 38 0 0.00 73 20 21.51 HTR1A 0 genome.wustl.edu 37 5 63257295 63257295 + Missense_Mutation SNP C C A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 5 63257295 63257295 C A SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.252 p.M84I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 tier1 - - 20 0 0.00 7 6 46.15 48 0 0.00 18 9 33.33 SHPRH 0 genome.wustl.edu 37 6 146264415 146264415 + Missense_Mutation SNP A A G TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 6 146264415 146264415 A G SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.2102 p.F701S 1.000 superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Znf_PHD pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 tier1 - - 25 0 0.00 14 11 44.00 94 0 0.00 30 43 58.90 ZNF141 0 genome.wustl.edu 37 4 367650 367650 + Silent SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 4 367650 367650 G A SNP ZNF141 ENST00000240499 human ensembl 74_37 +1 known silent c.1424 p.*475 0.173 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 ZNF141 HGNC ENSG00000131127 tier1 - - 65 0 0.00 70 10 12.50 16 0 0.00 31 5 13.51 DOCK3 0 genome.wustl.edu 37 3 51297624 51297624 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 3 51297624 51297624 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.2222 p.R741Q 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 49 0 0.00 14 9 39.13 93 0 0.00 53 21 28.38 C1orf173 0 genome.wustl.edu 37 1 75097467 75097467 + Missense_Mutation SNP G G C TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 1 75097467 75097467 G C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.749 p.S250C 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 35 0 0.00 30 23 43.40 112 0 0.00 75 35 31.82 RYR3 0 genome.wustl.edu 37 15 33858928 33858928 + Missense_Mutation SNP G G T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 15 33858928 33858928 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.1196 p.R399I 1.000 superfamily_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 45 0 0.00 15 29 65.91 97 0 0.00 42 24 36.36 OR2T2 0 genome.wustl.edu 37 1 248616711 248616711 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 1 248616711 248616711 G A SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.613 p.V205M 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 tier1 - - 9 0 0.00 2 7 77.78 71 0 0.00 18 29 61.70 KRR1 0 genome.wustl.edu 37 12 75897849 75897849 + Missense_Mutation SNP T T G TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 12 75897849 75897849 T G SNP KRR1 ENST00000229214 human ensembl 74_37 -1 known missense c.666 p.L222F 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 tier1 - - 33 0 0.00 378 58 13.30 56 0 0.00 1618 202 11.09 SPATA31D1 0 genome.wustl.edu 37 9 84608921 84608921 + Missense_Mutation SNP C C T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 9 84608921 84608921 C T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.3536 p.S1179F 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 59 0 0.00 48 27 36.00 24 0 0.00 17 3 15.00 FGFR1OP 0 genome.wustl.edu 37 6 167413584 167413584 + Missense_Mutation SNP G G C TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 6 167413584 167413584 G C SNP FGFR1OP ENST00000366847 human ensembl 74_37 +1 known missense c.139 p.E47Q 1.000 NULL pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation - no_errors FGFR1OP HGNC ENSG00000213066 tier1 - - 112 0 0.00 90 16 15.09 75 0 0.00 59 18 23.38 KIAA2022 0 genome.wustl.edu 37 X 73961202 73961202 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 X 73961202 73961202 G A SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.3190 p.R1064C 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 16 0 0.00 12 10 45.45 63 0 0.00 40 29 42.03 ZNF141 0 genome.wustl.edu 37 4 367589 367589 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 4 367589 367589 G A SNP ZNF141 ENST00000240499 human ensembl 74_37 +1 known missense c.1363 p.D455N 0.011 pfam_Znf_C2H2,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 ZNF141 HGNC ENSG00000131127 tier1 - - 99 0 0.00 95 9 8.65 29 0 0.00 28 6 17.65 HYDIN 0 genome.wustl.edu 37 16 70942292 70942292 + Silent SNP C C T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 16 70942292 70942292 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.8259 p.T2753 0.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 40 0 0.00 21 11 34.38 25 0 0.00 16 2 11.11 HLA-DQA2 0 genome.wustl.edu 37 6 32712953 32712953 + Missense_Mutation SNP T T A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 6 32712953 32712953 T A SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known missense c.100 p.Y34N 0.054 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N 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-DQA2 HGNC ENSG00000237541 tier1 - - 36 0 0.00 18 7 28.00 71 0 0.00 65 18 21.69 WDSUB1 0 genome.wustl.edu 37 2 160112887 160112887 + Splice_Site SNP C C T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 2 160112887 160112887 C T SNP WDSUB1 ENST00000359774 human ensembl 74_37 -1 known splice_site c.953-1 e8-1 1.000 - - - no_errors WDSUB1 HGNC ENSG00000196151 tier1 - - 46 0 0.00 20 11 35.48 86 0 0.00 17 11 39.29 ZNF141 0 genome.wustl.edu 37 4 367636 367636 + Silent SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 4 367636 367636 G A SNP ZNF141 ENST00000240499 human ensembl 74_37 +1 known silent c.1410 p.K470 0.423 pfam_Znf_C2H2,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 ZNF141 HGNC ENSG00000131127 tier1 - - 71 0 0.00 73 9 10.98 20 0 0.00 33 5 13.16 CYP27B1 0 genome.wustl.edu 37 12 58159275 58159275 + Missense_Mutation SNP C C T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 12 58159275 58159275 C T SNP CYP27B1 ENST00000228606 human ensembl 74_37 -1 known missense c.394 p.E132K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27B1 HGNC ENSG00000111012 tier1 - - 14 0 0.00 298 96 24.37 50 0 0.00 444 121 21.42 MUT 0 genome.wustl.edu 37 6 49427080 49427080 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 6 49427080 49427080 G A SNP MUT ENST00000274813 human ensembl 74_37 -1 known missense c.100 p.H34Y 0.994 superfamily_Cbl-dep_enz_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 tier1 - - 26 0 0.00 25 8 24.24 56 1 1.75 43 13 23.21 TVP23C 0 genome.wustl.edu 37 17 15441452 15441452 + Missense_Mutation SNP G G C TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 17 15441452 15441452 G C SNP TVP23C ENST00000428082 human ensembl 74_37 -1 novel missense c.607 p.Q203E 0.997 NULL pfam_DUF846_euk - no_errors TVP23C HGNC ENSG00000175106 tier1 - - 118 0 0.00 103 12 10.43 67 0 0.00 41 10 19.61 OR1F1 0 genome.wustl.edu 37 16 3254696 3254696 + Silent SNP G G T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 16 3254696 3254696 G T SNP OR1F1 ENST00000304646 human ensembl 74_37 +1 known silent c.450 p.V150 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC ENSG00000168124 tier1 - - 25 0 0.00 15 11 42.31 29 0 0.00 16 16 50.00 RAB18 0 genome.wustl.edu 37 10 27827289 27827289 + R SNP A A G TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 10 27827289 27827289 A G SNP RAB18 ENST00000465772 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RAB18 HGNC ENSG00000099246 tier1 - - 20 0 0.00 7 8 53.33 70 0 0.00 42 16 27.59 ZZZ3 0 genome.wustl.edu 37 1 78044547 78044547 + Missense_Mutation SNP C C T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 1 78044547 78044547 C T SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known missense c.2090 p.S697N 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 tier1 - - 33 0 0.00 11 7 38.89 96 0 0.00 47 11 18.97 CALCOCO1 0 genome.wustl.edu 37 12 54117527 54117527 + Silent SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 12 54117527 54117527 G A SNP CALCOCO1 ENST00000550804 human ensembl 74_37 -1 known silent c.300 p.F100 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 tier1 - - 23 0 0.00 16 6 27.27 49 0 0.00 27 5 15.62 DUSP22 0 genome.wustl.edu 37 6 311931 311931 + Missense_Mutation SNP C C G TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 6 311931 311931 C G SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.107 p.S36C 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 tier1 - - 60 0 0.00 56 16 22.22 79 0 0.00 68 13 16.05 RCL1 0 genome.wustl.edu 37 9 4860199 4860199 + Missense_Mutation SNP A A T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 9 4860199 4860199 A T SNP RCL1 ENST00000381750 human ensembl 74_37 +1 known missense c.1046 p.E349V 1.000 pirsf_R3'_term_phos_cyc,tigrfam_R3'_term_phos_cyc_type_2 pfam_R3'_phos_cyclase_dom,pfam_R3'-term_phos_cycl_insert,superfamily_R3'P_cycl/enolpyr_Trfase_a/b,pirsf_R3'_term_phos_cyc,tigrfam_R3'_term_phos_cyc_type_2 - no_errors RCL1 HGNC ENSG00000120158 tier1 - - 182 0 0.00 95 41 30.15 132 0 0.00 51 25 32.89 C1QA 0 genome.wustl.edu 37 1 22965616 22965616 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 1 22965616 22965616 G A SNP C1QA ENST00000374642 human ensembl 74_37 +1 known missense c.454 p.V152I 0.087 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QA HGNC ENSG00000173372 tier1 rs201517118 GMAF=0.0005 29 0 0.00 34 5 12.82 97 0 0.00 101 42 29.37 RYR3 0 genome.wustl.edu 37 15 33941420 33941420 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 15 33941420 33941420 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.4126 p.G1376S 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 60 0 0.00 31 14 31.11 63 0 0.00 37 20 35.09 CALN1 0 genome.wustl.edu 37 7 71252869 71252869 + Missense_Mutation SNP T T C TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 7 71252869 71252869 T C SNP CALN1 ENST00000395275 human ensembl 74_37 -1 known missense c.677 p.N226S 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALN1 HGNC ENSG00000183166 tier1 - - 26 0 0.00 2 7 77.78 69 0 0.00 38 32 45.71 COL6A5 0 genome.wustl.edu 37 3 130098262 130098262 + Silent SNP T T C TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 3 130098262 130098262 T C SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known silent c.669 p.V223 0.206 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 19 0 0.00 14 10 41.67 123 1 0.81 48 41 46.07 HLA-DQA2 0 genome.wustl.edu 37 6 32712940 32712940 + Missense_Mutation SNP C C G TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 6 32712940 32712940 C G SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known missense c.87 p.D29E 0.995 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog 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-DQA2 HGNC ENSG00000237541 tier1 - - 30 0 0.00 17 8 32.00 73 0 0.00 63 17 21.25 FAM53B 0 genome.wustl.edu 37 10 126311826 126311826 + Missense_Mutation SNP C C A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 10 126311826 126311826 C A SNP FAM53B ENST00000337318 human ensembl 74_37 -1 known missense c.1254 p.Q418H 1.000 NULL NULL - no_errors FAM53B HGNC ENSG00000189319 tier1 - - 43 0 0.00 28 6 17.65 30 0 0.00 22 3 12.00 CALD1 0 genome.wustl.edu 37 7 134632457 134632457 + Missense_Mutation SNP G G T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 7 134632457 134632457 G T SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.1044 p.K348N 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 tier1 - - 55 0 0.00 22 24 52.17 57 1 1.72 39 21 35.00 HELLS 0 genome.wustl.edu 37 10 96313980 96313980 + Missense_Mutation SNP C C T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 10 96313980 96313980 C T SNP HELLS ENST00000371332 human ensembl 74_37 +1 known missense c.251 p.T84M 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 tier1 - - 68 0 0.00 41 20 32.79 50 0 0.00 33 26 44.07 PTPRB 0 genome.wustl.edu 37 12 71016412 71016412 + Missense_Mutation SNP C C T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 12 71016412 71016412 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.466 p.E156K 1.000 NULL pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 - - 46 0 0.00 182 134 42.41 74 0 0.00 316 292 48.03 MBD6 0 genome.wustl.edu 37 12 57919428 57919428 + Missense_Mutation SNP C C T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 12 57919428 57919428 C T SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known missense c.677 p.S226L 1.000 NULL superfamily_D-bd_dom,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd - no_errors MBD6 HGNC ENSG00000166987 tier1 - - 20 0 0.00 18 10 35.71 34 0 0.00 41 14 25.45 TVP23C 0 genome.wustl.edu 37 17 15443775 15443775 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 17 15443775 15443775 G A SNP TVP23C ENST00000518321 human ensembl 74_37 -1 known missense c.563 p.S188L 0.959 NULL pfam_DUF846_euk - no_errors TVP23C HGNC ENSG00000175106 tier1 - - 29 0 0.00 35 7 16.67 19 0 0.00 18 3 14.29 HSD17B6 0 genome.wustl.edu 37 12 57167823 57167823 + Nonsense_Mutation SNP G G T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 12 57167823 57167823 G T SNP HSD17B6 ENST00000322165 human ensembl 74_37 +1 known nonsense c.187 p.E63* 0.991 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC ENSG00000025423 tier1 - - 37 0 0.00 27 146 84.39 6 0 0.00 7 82 92.13 HSD17B6 0 genome.wustl.edu 37 12 57167840 57167840 + Missense_Mutation SNP G G T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 12 57167840 57167840 G T SNP HSD17B6 ENST00000322165 human ensembl 74_37 +1 known missense c.204 p.Q68H 0.873 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC ENSG00000025423 tier1 - - 37 0 0.00 25 143 85.12 8 0 0.00 9 98 91.59 HSD17B6 0 genome.wustl.edu 37 12 57167862 57167862 + Silent SNP A A C TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 12 57167862 57167862 A C SNP HSD17B6 ENST00000322165 human ensembl 74_37 +1 known silent c.226 p.R76 0.155 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC ENSG00000025423 tier1 - - 38 0 0.00 24 168 87.50 11 0 0.00 8 101 92.66 HSD17B6 0 genome.wustl.edu 37 12 57167910 57167910 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 12 57167910 57167910 G A SNP HSD17B6 ENST00000322165 human ensembl 74_37 +1 known missense c.274 p.A92T 0.126 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC ENSG00000025423 tier1 - - 36 0 0.00 20 182 90.10 12 0 0.00 8 107 93.04 KCNJ3 0 genome.wustl.edu 37 2 155555781 155555781 + Missense_Mutation SNP A A T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 2 155555781 155555781 A T SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known missense c.494 p.Q165L 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 tier1 - - 19 0 0.00 2 6 75.00 32 0 0.00 4 23 85.19 RELB 0 genome.wustl.edu 37 19 45525438 45525438 + Missense_Mutation SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 19 45525438 45525438 G A SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.632 p.R211Q 0.995 pfam_RHD,superfamily_p53-like_TF_D-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 tier1 rs55723886 - 31 0 0.00 30 7 18.92 19 0 0.00 9 6 40.00 TMPRSS5 0 genome.wustl.edu 37 11 113565326 113565326 + Missense_Mutation SNP C C T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 11 113565326 113565326 C T SNP TMPRSS5 ENST00000299882 human ensembl 74_37 -1 known missense c.659 p.G220D 0.982 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS5 HGNC ENSG00000166682 tier1 - - 60 0 0.00 17 3 15.00 13 0 0.00 4 0 0.00 TRAF7 0 genome.wustl.edu 37 16 2220714 2220716 + In_Frame_Del DEL GAG GAG - TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 16 2220714 2220716 GAG - DEL TRAF7 ENST00000326181 human ensembl 74_37 +1 known in_frame_del c.331_333 p.E114in_frame_del 1.000:1.000:1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 tier1 32 0 0.00 15 3 16.67 13 0 0.00 9 0 0.00 COL4A2-AS2 0 genome.wustl.edu 37 13 111109209 111109209 + R SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 13 111109209 111109209 G A SNP COL4A2-AS2 ENST00000458403 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors COL4A2-AS2 HGNC ENSG00000224821 tier1 - - 33 0 0.00 21 3 12.50 0 0 0.00 0 0 0.00 ENSG00000265002 0 genome.wustl.edu 37 15 20563408 20563417 + R DEL CCTCTCCCTT CCTCTCCCTT - TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 CCTCTCCCTT CCTCTCCCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 15 20563408 20563417 CCTCTCCCTT - DEL ENSG00000265002 ENST00000581090 human ensembl 74_37 +1 novel rna NULL NULL 0.055:0.047:0.032:0.034:0.033:0.036:0.075:0.098:0.111:0.132 - - - no_errors AC026495.1 Clone_based_ensembl_gene ENSG00000265002 tier1 3 0 0.00 4 0 0.00 3 0 0.00 4 0 0.00 FAM230C 0 genome.wustl.edu 37 22 21663770 21663770 + R SNP G G A TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 22 21663770 21663770 G A SNP FAM230C ENST00000436681 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors KB-1183D5.13 Clone_based_vega_gene ENSG00000206142 tier1 - - 43 0 0.00 47 5 9.62 4 0 0.00 6 0 0.00 PRSS41 0 genome.wustl.edu 37 16 2848500 2848511 + R DEL GGCGCTGCTGCT GGCGCTGCTGCT - TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 GGCGCTGCTGCT GGCGCTGCTGCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 16 2848500 2848511 GGCGCTGCTGCT - DEL PRSS41 ENST00000399677 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000:0.000:0.000:0.000:0.001:0.004:0.000:0.001:0.001:0.000:0.000 - - - no_errors PRSS41 HGNC ENSG00000215148 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 TPRXL 0 genome.wustl.edu 37 3 14105964 14105965 + In_Frame_Ins INS - - AGC TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 3 14105964 14105965 - AGC INS TPRXL ENST00000326972 human ensembl 74_37 +1 known in_frame_ins c.288_289 p.100in_frame_insS 0.893:0.892 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 12 0 0.00 11 6 35.29 0 0 0.00 0 0 0.00 FAM230A 0 genome.wustl.edu 37 22 20709111 20709111 + Silent SNP C C T TCGA-DX-AB35-01A-21D-A417-09 TCGA-DX-AB35-11A-11D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e6f1c2d9-3f78-45f4-ae85-1d8e8eccf797 7f0069c9-21bd-456c-808f-b7604c8e6d10 22 20709111 20709111 C T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known silent c.843 p.H281 0.001 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 40 0 0.00 21 13 36.11 1 0 0.00 0 5 100.00