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 HNRNPCL1 0 genome.wustl.edu 37 1 12907990 12907990 + Silent SNP G G T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 1 12907990 12907990 G T SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known silent c.153 p.G51 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 tier1 - - 283 0 0.00 290 45 13.43 166 0 0.00 150 22 12.79 LHCGR 0 genome.wustl.edu 37 2 48936105 48936105 + Missense_Mutation SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 2 48936105 48936105 G A SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.662 p.A221V 1.000 prints_TSH_rcpt pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 - - 110 0 0.00 85 53 38.41 101 0 0.00 65 45 40.91 ZNF568 0 genome.wustl.edu 37 19 37440596 37440596 + Missense_Mutation SNP C C T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 19 37440596 37440596 C T SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.541 p.L181F 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 tier1 - - 47 0 0.00 87 10 10.31 105 0 0.00 174 26 13.00 DH7 0 genome.wustl.edu 37 2 196799353 196799353 + Missense_Mutation SNP C C A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 2 196799353 196799353 C A SNP DH7 ENST00000312428 human ensembl 74_37 -1 known missense c.3433 p.V1145F 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DH7 HGNC ENSG00000118997 tier1 - - 59 0 0.00 31 23 42.59 115 1 0.86 80 32 28.32 ALDH1A3 0 genome.wustl.edu 37 15 101438364 101438364 + Missense_Mutation SNP C C G TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 15 101438364 101438364 C G SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known missense c.857 p.P286R 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 tier1 - - 27 0 0.00 31 36 53.73 54 0 0.00 38 44 53.66 RSF1 0 genome.wustl.edu 37 11 77378084 77378084 + Missense_Mutation SNP C C T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 11 77378084 77378084 C T SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known missense c.4204 p.A1402T 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 tier1 - - 55 0 0.00 38 24 38.71 86 1 1.15 54 29 34.94 ACBD5 0 genome.wustl.edu 37 10 27499800 27499800 + Missense_Mutation SNP G G T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 10 27499800 27499800 G T SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known missense c.1174 p.H392N 0.958 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 tier1 - - 93 0 0.00 30 31 50.82 119 0 0.00 64 48 42.48 DGCR6 0 genome.wustl.edu 37 22 18898464 18898464 + Missense_Mutation SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 22 18898464 18898464 G A SNP DGCR6 ENST00000331444 human ensembl 74_37 +1 known missense c.436 p.D146N 1.000 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6 HGNC ENSG00000183628 tier1 - - 99 0 0.00 104 39 27.27 36 0 0.00 28 5 15.15 SLC4A4 0 genome.wustl.edu 37 4 72412066 72412066 + Splice_Site SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 4 72412066 72412066 G A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known splice_site c.2443-1 e18-1 1.000 - - - no_errors SLC4A4 HGNC ENSG00000080493 tier1 - - 103 0 0.00 38 35 47.95 100 0 0.00 42 29 40.85 IGFBP5 0 genome.wustl.edu 37 2 217559222 217559222 + Silent SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 2 217559222 217559222 G A SNP IGFBP5 ENST00000233813 human ensembl 74_37 -1 known silent c.277 p.L93 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,prints_IGFBP_1-6_chordata pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-5 - no_errors IGFBP5 HGNC ENSG00000115461 tier1 - - 65 0 0.00 30 20 40.00 14 0 0.00 21 11 33.33 KCNH1 0 genome.wustl.edu 37 1 210977435 210977435 + Nonsense_Mutation SNP G G T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 1 210977435 210977435 G T SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known nonsense c.1536 p.Y512* 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 102 0 0.00 49 29 37.18 117 0 0.00 76 64 45.71 TECTA 0 genome.wustl.edu 37 11 121037373 121037373 + Missense_Mutation SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 11 121037373 121037373 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.5470 p.G1824S 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 72 0 0.00 41 18 30.51 93 0 0.00 42 37 46.84 FAM47C 0 genome.wustl.edu 37 X 37026659 37026659 + Missense_Mutation SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 X 37026659 37026659 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.176 p.R59H 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 106 0 0.00 54 33 37.93 40 0 0.00 19 13 40.62 RASSF9 0 genome.wustl.edu 37 12 86198968 86198968 + Nonsense_Mutation SNP T T A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 12 86198968 86198968 T A SNP RASSF9 ENST00000361228 human ensembl 74_37 -1 known nonsense c.820 p.K274* 0.017 NULL smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF9 HGNC ENSG00000198774 tier1 - - 42 0 0.00 20 15 42.86 79 0 0.00 54 49 47.12 NF1 0 genome.wustl.edu 37 17 29553702 29553702 + Missense_Mutation SNP G G C TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 17 29553702 29553702 G C SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.2251 p.G751R 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 - - 48 0 0.00 16 15 48.39 38 0 0.00 17 6 26.09 SYNGAP1 0 genome.wustl.edu 37 6 33411019 33411019 + Missense_Mutation SNP C C T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 6 33411019 33411019 C T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.2690 p.S897L 0.909 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 tier1 - - 72 0 0.00 24 21 46.67 12 0 0.00 12 8 40.00 CD3EAP 0 genome.wustl.edu 37 19 45912057 45912057 + Silent SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 19 45912057 45912057 G A SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known silent c.837 p.E279 0.006 NULL pfam_D-dir_R_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 tier1 - - 44 0 0.00 26 15 36.59 73 0 0.00 36 19 34.55 OPN4 0 genome.wustl.edu 37 10 88418324 88418324 + Silent SNP C C T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 10 88418324 88418324 C T SNP OPN4 ENST00000372071 human ensembl 74_37 +1 known silent c.541 p.L181 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN4 HGNC ENSG00000122375 tier1 - - 76 0 0.00 12 25 67.57 36 0 0.00 16 31 65.96 DICER1 0 genome.wustl.edu 37 14 95560464 95560464 + Missense_Mutation SNP C C T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 14 95560464 95560464 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.5125 p.D1709N 1.000 pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsR-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsR-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 tier1 - - 49 0 0.00 7 40 85.11 135 0 0.00 11 113 90.40 FAM47C 0 genome.wustl.edu 37 X 37026574 37026574 + Missense_Mutation SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 X 37026574 37026574 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.91 p.A31T 0.002 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 104 0 0.00 40 29 42.03 37 0 0.00 23 16 41.03 ZC4H2 0 genome.wustl.edu 37 X 64140081 64140081 + Missense_Mutation SNP G G T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 X 64140081 64140081 G T SNP ZC4H2 ENST00000374839 human ensembl 74_37 -1 known missense c.278 p.S93Y 1.000 pfam_Znf-C4H2 pfam_Znf-C4H2 - no_errors ZC4H2 HGNC ENSG00000126970 tier1 - - 83 0 0.00 35 7 16.67 122 0 0.00 34 7 17.07 SGIP1 0 genome.wustl.edu 37 1 67160987 67160987 + R SNP C C G TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 1 67160987 67160987 C G SNP SGIP1 ENST00000320161 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 60 0 0.00 18 14 43.75 30 0 0.00 15 15 50.00 APC 0 genome.wustl.edu 37 5 112128170 112128170 + Missense_Mutation SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 5 112128170 112128170 G A SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.673 p.E225K 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 83 0 0.00 36 36 49.32 110 0 0.00 68 24 26.09 FL 0 genome.wustl.edu 37 X 153583396 153583396 + Missense_Mutation SNP T T C TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 X 153583396 153583396 T C SNP FL ENST00000369850 human ensembl 74_37 -1 known missense c.5014 p.I1672V 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FL HGNC ENSG00000196924 tier1 - - 45 0 0.00 22 19 46.34 92 0 0.00 64 59 47.97 QRICH2 0 genome.wustl.edu 37 17 74288739 74288739 + Nonsense_Mutation SNP A A T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 17 74288739 74288739 A T SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known nonsense c.1571 p.L524* 0.010 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 tier1 - - 89 0 0.00 51 44 46.32 29 0 0.00 32 20 38.46 DCAF11 0 genome.wustl.edu 37 14 24590047 24590047 + Missense_Mutation SNP G G T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 14 24590047 24590047 G T SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.1093 p.G365C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 tier1 - - 33 0 0.00 24 26 52.00 97 0 0.00 57 82 58.99 ARHGAP30 0 genome.wustl.edu 37 1 161022582 161022582 + Missense_Mutation SNP C C T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 1 161022582 161022582 C T SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.670 p.E224K 0.926 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 tier1 rs202221316 GMAF=0.0005 23 0 0.00 18 11 37.93 99 0 0.00 42 54 56.25 GSTCD 0 genome.wustl.edu 37 4 106629991 106629991 + R SNP G G T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 4 106629991 106629991 G T SNP GSTCD ENST00000515255 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors GSTCD HGNC ENSG00000138780 tier1 - - 50 0 0.00 29 27 48.21 76 0 0.00 53 23 30.26 C9orf96 0 genome.wustl.edu 37 9 136270476 136270476 + Missense_Mutation SNP C C G TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 9 136270476 136270476 C G SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known missense c.1974 p.F658L 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors C9orf96 HGNC ENSG00000198870 tier1 - - 13 0 0.00 6 5 45.45 19 0 0.00 14 22 61.11 AGPAT6 0 genome.wustl.edu 37 8 41467400 41467400 + Missense_Mutation SNP G G C TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 8 41467400 41467400 G C SNP AGPAT6 ENST00000396987 human ensembl 74_37 +1 known missense c.462 p.Q154H 0.983 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 tier1 - - 47 0 0.00 7 24 77.42 84 0 0.00 10 33 76.74 IFIH1 0 genome.wustl.edu 37 2 163136618 163136618 + Missense_Mutation SNP C C T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 2 163136618 163136618 C T SNP IFIH1 ENST00000263642 human ensembl 74_37 -1 known missense c.1529 p.C510Y 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 tier1 - - 92 0 0.00 42 38 47.50 119 0 0.00 36 31 46.27 SETD5 0 genome.wustl.edu 37 3 9470539 9470539 + R SNP C C T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 3 9470539 9470539 C T SNP SETD5 ENST00000468208 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SETD5 HGNC ENSG00000168137 tier1 - - 32 0 0.00 15 11 42.31 72 0 0.00 46 39 45.35 TNFRSF21 0 genome.wustl.edu 37 6 47252150 47252150 + Missense_Mutation SNP G G T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 6 47252150 47252150 G T SNP TNFRSF21 ENST00000296861 human ensembl 74_37 -1 known missense c.767 p.S256Y 0.999 NULL pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 tier1 - - 67 0 0.00 31 19 38.00 63 0 0.00 42 33 44.00 ZDHHC13 0 genome.wustl.edu 37 11 19184856 19184856 + Missense_Mutation SNP C C A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 11 19184856 19184856 C A SNP ZDHHC13 ENST00000446113 human ensembl 74_37 +1 known missense c.1115 p.A372E 0.999 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ENSG00000177054 tier1 - - 95 0 0.00 98 36 26.87 144 0 0.00 110 35 23.97 NONO 0 genome.wustl.edu 37 X 70520091 70520091 + R SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 X 70520091 70520091 G A SNP NONO ENST00000473525 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors NONO HGNC ENSG00000147140 tier1 - - 35 0 0.00 12 15 55.56 90 0 0.00 18 30 62.50 KCNH8 0 genome.wustl.edu 37 3 19432128 19432128 + Missense_Mutation SNP G G T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 3 19432128 19432128 G T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.967 p.V323L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tR-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 87 0 0.00 47 22 31.88 93 0 0.00 62 26 29.55 PTPRU 0 genome.wustl.edu 37 1 29630418 29630418 + Missense_Mutation SNP C C T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 1 29630418 29630418 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.2558 p.S853F 0.999 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 65 0 0.00 33 31 48.44 12 0 0.00 13 7 35.00 SHPRH 0 genome.wustl.edu 37 6 146256227 146256227 + Missense_Mutation SNP G G C TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 6 146256227 146256227 G C SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.2806 p.R936G 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase 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 - - 69 0 0.00 43 10 18.52 109 0 0.00 63 14 18.18 AGBL2 0 genome.wustl.edu 37 11 47711627 47711627 + Splice_Site DEL C C - TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 11 47711627 47711627 C - DEL AGBL2 ENST00000357610 human ensembl 74_37 -1 known splice_site_del c.1631+1 e9+1 1.000 - - - no_errors AGBL2 HGNC ENSG00000165923 tier1 32 0 0.00 45 15 25.00 116 0 0.00 111 26 18.98 RSE8 0 genome.wustl.edu 37 14 21526082 21526084 + In_Frame_Del DEL CTG CTG - TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 CTG CTG CTG - CTG CTG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 14 21526082 21526084 CTG - DEL RSE8 ENST00000308227 human ensembl 74_37 +1 known in_frame_del c.31_33 p.L14in_frame_del 0.001:0.002:0.001 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RSE8 HGNC ENSG00000173431 tier1 49 0 0.00 19 4 17.39 46 0 0.00 27 3 10.00 MAPK15 0 genome.wustl.edu 37 8 144801595 144801595 + Missense_Mutation SNP T T A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 8 144801595 144801595 T A SNP MAPK15 ENST00000338033 human ensembl 74_37 +1 known missense c.664 p.S222T 0.997 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 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 MAPK15 HGNC ENSG00000181085 tier1 rs139010308 - 166 0 0.00 14 103 87.29 21 0 0.00 5 25 83.33 SDK1 0 genome.wustl.edu 37 7 4169647 4169647 + Nonsense_Mutation SNP C C G TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 7 4169647 4169647 C G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known nonsense c.4047 p.Y1349* 0.933 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 - - 78 0 0.00 40 33 45.21 10 0 0.00 7 13 65.00 TP53 0 genome.wustl.edu 37 17 7578443 7578443 + Missense_Mutation SNP A A T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 17 7578443 7578443 A T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.487 p.Y163N 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 32 0 0.00 5 22 81.48 52 0 0.00 9 28 75.68 ZBTB12 0 genome.wustl.edu 37 6 31868321 31868321 + Missense_Mutation SNP G G C TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 6 31868321 31868321 G C SNP ZBTB12 ENST00000375527 human ensembl 74_37 -1 known missense c.762 p.S254R 0.004 NULL 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 ZBTB12 HGNC ENSG00000204366 tier1 - - 80 0 0.00 67 46 40.71 24 0 0.00 8 10 55.56 MEG3 0 genome.wustl.edu 37 14 101299003 101299003 + R SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 14 101299003 101299003 G A SNP MEG3 ENST00000452120 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 - - 42 0 0.00 45 17 26.56 78 0 0.00 69 6 8.00 KIT 0 genome.wustl.edu 37 4 55603360 55603360 + Missense_Mutation SNP T T C TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 4 55603360 55603360 T C SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.2716 p.C906R 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 - - 28 0 0.00 33 7 17.50 81 0 0.00 101 9 8.18 FAM182B 0 genome.wustl.edu 37 20 25840376 25840379 + R DEL CCCA CCCA - TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 CCCA CCCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 20 25840376 25840379 CCCA - DEL FAM182B ENST00000584356 human ensembl 74_37 -1 known rna NULL NULL 0.030:0.028:0.026:0.024 - - - no_errors FAM182B HGNC ENSG00000175170 tier1 12 0 0.00 3 7 70.00 6 0 0.00 1 0 0.00 ROCK1P1 0 genome.wustl.edu 37 18 122175 122175 + R SNP T T C TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 18 122175 122175 T C SNP ROCK1P1 ENST00000608049 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ROCK1P1 HGNC ENSG00000263006 tier1 rs201110035 - 26 0 0.00 8 3 27.27 7 0 0.00 0 0 0.00 KRTAP10-9 0 genome.wustl.edu 37 21 46048196 46048197 + R INS - - CGCTGGT TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 21 46048196 46048197 - CGCTGGT INS KRTAP10-9 ENST00000484861 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors KRTAP10-9 HGNC ENSG00000221837 tier1 4 0 0.00 1 0 0.00 4 0 0.00 1 0 0.00 KRTAP5-5 0 genome.wustl.edu 37 11 1651159 1651169 + Frame_Shift_Del DEL GCTGTGGCTCT GCTGTGGCTCT - TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 GCTGTGGCTCT GCTGTGGCTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 11 1651159 1651169 GCTGTGGCTCT - DEL KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known frame_shift_del c.89_99 p.C31fs 0.384:0.317:0.302:0.301:0.281:0.273:0.283:0.273:0.229:0.033:0.002 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 1 0 0.00 1 0 0.00 1 0 0.00 1 0 0.00 LCNL1 0 genome.wustl.edu 37 9 139879882 139879882 + R SNP G G C TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 9 139879882 139879882 G C SNP LCNL1 ENST00000432827 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LCNL1 HGNC ENSG00000214402 tier1 - - 53 0 0.00 37 4 9.76 3 0 0.00 2 0 0.00 LOC730102 0 genome.wustl.edu 37 1 178006883 178006883 + R SNP A A C TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 1 178006883 178006883 A C SNP LOC730102 ENST00000476232 human ensembl 74_37 -1 known rna NULL NULL 0.905 - - - no_errors RP11-568K15.1 Clone_based_vega_gene ENSG00000242193 tier1 - - 60 0 0.00 48 12 20.00 4 0 0.00 3 0 0.00 LOC285556 0 genome.wustl.edu 37 4 100571171 100571171 + Silent SNP G G A TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 4 100571171 100571171 G A SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative silent c.4635 p.A1545 0.007 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 22 0 0.00 14 15 51.72 2 0 0.00 1 2 66.67 NBPF1 0 genome.wustl.edu 37 1 16907298 16907298 + Silent SNP C C T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 1 16907298 16907298 C T SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel silent c.1533 p.L511 0.005 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 tier1 - - 1438 0 0.00 1492 131 8.07 165 0 0.00 180 2 1.10 SCAND2P 0 genome.wustl.edu 37 15 85178522 85178523 + R INS - - T TCGA-QQ-A8VH-01A-11D-A37C-09 TCGA-QQ-A8VH-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e4b5a400-a49b-41a3-bff0-f3b8c36e36dd a65e8e60-03c3-468b-acb5-075ff9096122 15 85178522 85178523 - T INS SCAND2P ENST00000427525 human ensembl 74_37 +1 known rna NULL NULL 0.260:0.227 - - - no_errors SCAND2P HGNC ENSG00000176700 tier1 22 0 0.00 19 3 13.64 93 0 0.00 104 2 1.89