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 ABCA13 0 genome.wustl.edu 37 7 48314976 48314976 + Nonsense_Mutation SNP G G T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 7 48314976 48314976 G T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known nonsense c.5713 p.E1905* 0.014 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 105 0 0.00 49 43 46.74 110 0 0.00 51 45 46.88 PKHD1 0 genome.wustl.edu 37 6 51930781 51930781 + Silent SNP G G C TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 6 51930781 51930781 G C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.873 p.T291 0.006 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 319 0 0.00 152 150 49.67 105 0 0.00 76 65 46.10 SNHG14 0 genome.wustl.edu 37 15 25328601 25328601 + R SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 15 25328601 25328601 C T SNP SNHG14 ENST00000383025 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 246 0 0.00 117 117 50.00 115 1 0.86 26 44 62.86 MUC16 0 genome.wustl.edu 37 19 9066039 9066039 + Missense_Mutation SNP G G A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 19 9066039 9066039 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.21407 p.T7136M 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 272 0 0.00 127 128 50.20 141 1 0.70 58 47 44.76 COL6A1 0 genome.wustl.edu 37 21 47423972 47423972 + R SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 21 47423972 47423972 C T SNP COL6A1 ENST00000486023 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 76 0 0.00 66 14 17.28 82 0 0.00 54 13 19.40 HIST2H3PS2 0 genome.wustl.edu 37 1 149400241 149400241 + Missense_Mutation SNP A A T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 1 149400241 149400241 A T SNP HIST2H3PS2 ENST00000392948 human ensembl 74_37 -1 putative missense c.302 p.L101Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3PS2 HGNC ENSG00000203818 tier1 - - 729 0 0.00 604 171 22.06 46 0 0.00 47 16 25.40 MAGI2 0 genome.wustl.edu 37 7 78636524 78636524 + Splice_Site SNP T T A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 7 78636524 78636524 T A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known splice_site c.302-2 e2-2 1.000 - - - no_errors MAGI2 HGNC ENSG00000187391 tier1 - - 78 0 0.00 54 16 22.86 68 0 0.00 59 29 32.58 MEIG1 0 genome.wustl.edu 37 10 15014543 15014543 + Missense_Mutation SNP A A G TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 10 15014543 15014543 A G SNP MEIG1 ENST00000378240 human ensembl 74_37 +1 known missense c.170 p.K57R 1.000 NULL NULL - no_errors MEIG1 HGNC ENSG00000197889 tier1 - - 173 0 0.00 84 69 45.10 142 0 0.00 52 42 44.68 PSTPIP2 0 genome.wustl.edu 37 18 43571883 43571883 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 18 43571883 43571883 C T SNP PSTPIP2 ENST00000409746 human ensembl 74_37 -1 known missense c.905 p.G302E 0.170 NULL pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP2 HGNC ENSG00000152229 tier1 - - 128 0 0.00 67 63 48.09 94 1 1.05 36 28 43.08 ENSG00000244227 0 genome.wustl.edu 37 3 167632987 167632987 + R SNP C C A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 3 167632987 167632987 C A SNP ENSG00000244227 ENST00000459923 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-298O21.5 Clone_based_vega_gene ENSG00000244227 tier1 - - 109 0 0.00 56 72 56.25 104 0 0.00 27 43 61.43 HFM1 0 genome.wustl.edu 37 1 91726828 91726828 + R SNP T T C TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 1 91726828 91726828 T C SNP HFM1 ENST00000462405 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HFM1 HGNC ENSG00000162669 tier1 - - 89 0 0.00 51 41 44.57 54 0 0.00 66 51 43.59 MPDZ 0 genome.wustl.edu 37 9 13223587 13223587 + Silent SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 9 13223587 13223587 C T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known silent c.516 p.E172 0.997 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 tier1 - - 125 0 0.00 63 44 41.12 123 1 0.81 38 37 49.33 MYH2 0 genome.wustl.edu 37 17 10432961 10432961 + Missense_Mutation SNP G G C TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 17 10432961 10432961 G C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.3037 p.L1013V 1.000 superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 373 0 0.00 3600 953 20.91 47 0 0.00 487 121 19.90 TTN 0 genome.wustl.edu 37 2 179431620 179431620 + Silent SNP A A G TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 2 179431620 179431620 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.71535 p.D23845 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 TTN HGNC ENSG00000155657 tier1 - - 63 0 0.00 41 36 46.75 98 0 0.00 52 26 32.91 SLC2A2 0 genome.wustl.edu 37 3 170723821 170723821 + Missense_Mutation SNP G G A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 3 170723821 170723821 G A SNP SLC2A2 ENST00000314251 human ensembl 74_37 -1 known missense c.686 p.A229V 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A2 HGNC ENSG00000163581 tier1 - - 61 0 0.00 17 19 52.78 58 0 0.00 13 30 69.77 HLTF 0 genome.wustl.edu 37 3 148792110 148792110 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 3 148792110 148792110 C T SNP HLTF ENST00000310053 human ensembl 74_37 -1 known missense c.421 p.A141T 0.996 pfam_HIP116_Rad5p_N,smart_HIP116_Rad5p_N pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 tier1 - - 62 0 0.00 59 24 28.92 106 0 0.00 114 43 27.39 MYH2 0 genome.wustl.edu 37 17 10432929 10432929 + Silent SNP G G C TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 17 10432929 10432929 G C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.3069 p.V1023 1.000 superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 443 0 0.00 4268 1107 20.57 55 0 0.00 607 155 20.26 ROM1 0 genome.wustl.edu 37 11 62381881 62381881 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 11 62381881 62381881 C T SNP ROM1 ENST00000278833 human ensembl 74_37 +1 known missense c.742 p.L248F 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 tier1 - - 63 0 0.00 42 22 34.38 110 1 0.90 40 44 52.38 ARFGEF1 0 genome.wustl.edu 37 8 68113722 68113722 + Silent SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 8 68113722 68113722 C T SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known silent c.5247 p.E1749 1.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 tier1 - - 93 0 0.00 29 46 61.33 91 0 0.00 26 24 48.00 JAG1 0 genome.wustl.edu 37 20 10625904 10625904 + Missense_Mutation SNP C C G TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 20 10625904 10625904 C G SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.2114 p.R705P 1.000 pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 tier1 - - 103 0 0.00 56 38 40.00 83 0 0.00 37 41 51.90 MDN1 0 genome.wustl.edu 37 6 90388356 90388356 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 6 90388356 90388356 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.12374 p.R4125Q 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 151 0 0.00 83 84 50.30 88 0 0.00 46 59 56.19 GLP2R 0 genome.wustl.edu 37 17 9760833 9760833 + Missense_Mutation SNP C C G TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 17 9760833 9760833 C G SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known missense c.705 p.F235L 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 tier1 - - 189 0 0.00 1514 513 25.30 108 0 0.00 714 228 24.15 OR2T3 0 genome.wustl.edu 37 1 248637398 248637398 + Silent SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 1 248637398 248637398 C T SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known silent c.747 p.H249 0.911 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T3 HGNC ENSG00000196539 tier1 - - 257 0 0.00 227 47 17.15 85 0 0.00 51 12 19.05 KCNH5 0 genome.wustl.edu 37 14 63269300 63269300 + Splice_Site SNP C C A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 14 63269300 63269300 C A SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known splice_site c.1570-1 e9-1 1.000 - - - no_errors KCNH5 HGNC ENSG00000140015 tier1 - - 90 0 0.00 45 49 52.13 37 0 0.00 12 24 66.67 ROM1 0 genome.wustl.edu 37 11 62381818 62381818 + Nonsense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 11 62381818 62381818 C T SNP ROM1 ENST00000278833 human ensembl 74_37 +1 known nonsense c.679 p.Q227* 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 tier1 - - 70 0 0.00 46 27 36.49 108 0 0.00 37 51 57.95 PTRF 0 genome.wustl.edu 37 17 40556897 40556897 + Missense_Mutation SNP C C G TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 17 40556897 40556897 C G SNP PTRF ENST00000357037 human ensembl 74_37 -1 known missense c.981 p.K327N 1.000 NULL NULL - no_errors PTRF HGNC ENSG00000177469 tier1 - - 57 0 0.00 25 23 47.92 25 0 0.00 15 16 51.61 GLP2R 0 genome.wustl.edu 37 17 9760880 9760880 + Missense_Mutation SNP C C G TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 17 9760880 9760880 C G SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known missense c.752 p.S251C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 tier1 - - 123 0 0.00 1235 400 24.42 120 1 0.81 809 234 22.33 GCGR 0 genome.wustl.edu 37 17 79770102 79770102 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 17 79770102 79770102 C T SNP GCGR ENST00000400723 human ensembl 74_37 +1 known missense c.922 p.R308W 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_glucagon_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GCGR HGNC ENSG00000215644 tier1 - - 148 0 0.00 76 53 41.09 72 1 1.37 18 15 45.45 ZMAT3 0 genome.wustl.edu 37 3 178785423 178785423 + Missense_Mutation SNP C C G TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 3 178785423 178785423 C G SNP ZMAT3 ENST00000311417 human ensembl 74_37 -1 known missense c.118 p.G40R 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT3 HGNC ENSG00000172667 tier1 - - 184 0 0.00 63 111 63.43 59 0 0.00 13 37 74.00 ABCA13 0 genome.wustl.edu 37 7 48314977 48314977 + Missense_Mutation SNP A A T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 7 48314977 48314977 A T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.5714 p.E1905V 0.018 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 105 1 0.94 50 42 45.65 109 0 0.00 52 44 45.83 OR2T34 0 genome.wustl.edu 37 1 248737312 248737312 + Silent SNP G G A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 1 248737312 248737312 G A SNP OR2T34 ENST00000328782 human ensembl 74_37 -1 known silent c.747 p.H249 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 tier1 rs143585056 - 121 0 0.00 92 40 30.30 38 0 0.00 26 7 21.21 FCGBP 0 genome.wustl.edu 37 19 40421292 40421292 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 19 40421292 40421292 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.2629 p.G877S 0.865 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 173 0 0.00 335 86 20.38 15 0 0.00 24 6 20.00 MYH2 0 genome.wustl.edu 37 17 10432323 10432323 + Missense_Mutation SNP G G C TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 17 10432323 10432323 G C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.3428 p.S1143C 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 166 0 0.00 1547 420 21.35 11 0 0.00 119 42 25.93 OR1J2 0 genome.wustl.edu 37 9 125273520 125273520 + Missense_Mutation SNP T T C TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 9 125273520 125273520 T C SNP OR1J2 ENST00000335302 human ensembl 74_37 +1 known missense c.440 p.V147A 0.000 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 OR1J2 HGNC ENSG00000197233 tier1 - - 187 0 0.00 69 59 46.09 108 0 0.00 32 43 57.33 MCM3AP-AS1 0 genome.wustl.edu 37 21 47669799 47669799 + R SNP T T A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 21 47669799 47669799 T A SNP MCM3AP-AS1 ENST00000414659 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 tier1 - - 49 0 0.00 27 21 43.75 58 0 0.00 21 9 30.00 ATP5G3 0 genome.wustl.edu 37 2 176044904 176044904 + Silent SNP G G T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 2 176044904 176044904 G T SNP ATP5G3 ENST00000284727 human ensembl 74_37 -1 known silent c.42 p.I14 1.000 NULL pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_F0-cplx_csu - no_errors ATP5G3 HGNC ENSG00000154518 tier1 - - 114 0 0.00 107 27 20.15 61 0 0.00 37 12 24.49 LRRC8B 0 genome.wustl.edu 37 1 90050237 90050237 + Missense_Mutation SNP C C A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 1 90050237 90050237 C A SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.2028 p.F676L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 tier1 - - 21 0 0.00 18 13 41.94 66 0 0.00 43 24 35.82 TFAP2E 0 genome.wustl.edu 37 1 36060270 36060270 + Missense_Mutation SNP G G A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 1 36060270 36060270 G A SNP TFAP2E ENST00000373235 human ensembl 74_37 +1 known missense c.1322 p.R441Q 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2E HGNC ENSG00000116819 tier1 - - 59 0 0.00 31 17 35.42 132 0 0.00 46 44 48.89 HUNK 0 genome.wustl.edu 37 21 33371084 33371084 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 21 33371084 33371084 C T SNP HUNK ENST00000270112 human ensembl 74_37 +1 known missense c.1732 p.H578Y 0.960 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 tier1 - - 91 0 0.00 35 33 48.53 62 0 0.00 29 24 45.28 NEB 0 genome.wustl.edu 37 2 152425138 152425138 + Silent SNP G G A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 2 152425138 152425138 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.17628 p.L5876 0.010 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 127 0 0.00 73 58 44.27 108 0 0.00 63 48 43.24 CUBN 0 genome.wustl.edu 37 10 16975218 16975218 + Missense_Mutation SNP C C G TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 10 16975218 16975218 C G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.5992 p.D1998H 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 80 0 0.00 37 26 41.27 85 0 0.00 23 27 54.00 ROM1 0 genome.wustl.edu 37 11 62381831 62381831 + Nonsense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 11 62381831 62381831 C T SNP ROM1 ENST00000534093 human ensembl 74_37 +1 putative nonsense c.64 p.Q22* 1.000 NULL NULL - no_errors ROM1 HGNC ENSG00000149489 tier1 - - 65 0 0.00 42 21 33.33 111 0 0.00 36 48 57.14 CCDC61 0 genome.wustl.edu 37 19 46498369 46498369 + Missense_Mutation SNP G G T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 19 46498369 46498369 G T SNP CCDC61 ENST00000263284 human ensembl 74_37 +1 known missense c.31 p.G11C 0.000 NULL NULL - no_errors CCDC61 HGNC ENSG00000104983 tier1 - - 104 1 0.95 118 43 26.71 13 0 0.00 26 6 18.75 OR8D1 0 genome.wustl.edu 37 11 124179837 124179837 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 11 124179837 124179837 C T SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.826 p.V276M 0.001 pfam_GPCR_Rhodpsn,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 OR8D1 HGNC ENSG00000196341 tier1 - - 98 0 0.00 38 30 44.12 119 1 0.83 26 26 50.00 TAS2R7 0 genome.wustl.edu 37 12 10954758 10954758 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 12 10954758 10954758 C T SNP TAS2R7 ENST00000240687 human ensembl 74_37 -1 known missense c.412 p.V138M 0.000 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 tier1 - - 109 0 0.00 105 49 31.82 134 0 0.00 144 70 32.71 HERC2P4 0 genome.wustl.edu 37 16 32191961 32191961 + R SNP G G T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 16 32191961 32191961 G T SNP HERC2P4 ENST00000566591 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors HERC2P4 HGNC ENSG00000230267 tier1 - - 349 1 0.29 199 56 21.96 105 0 0.00 69 42 37.84 HNF4A 0 genome.wustl.edu 37 20 43030126 43030126 + Frame_Shift_Del DEL T T - TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 20 43030126 43030126 T - DEL HNF4A ENST00000316099 human ensembl 74_37 +1 known frame_shift_del c.114 p.N38fs 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 tier1 138 0 0.00 81 53 39.55 60 0 0.00 31 22 41.51 ACSS2 0 genome.wustl.edu 37 20 33464462 33464462 + Missense_Mutation SNP A A T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 20 33464462 33464462 A T SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known missense c.14 p.E5V 0.996 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 tier1 - - 19 0 0.00 17 8 30.77 8 0 0.00 8 6 42.86 ANGPTL2 0 genome.wustl.edu 37 9 129870420 129870420 + Silent SNP G G A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 9 129870420 129870420 G A SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known silent c.591 p.I197 0.077 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 tier1 - - 53 0 0.00 24 31 56.36 11 0 0.00 6 2 25.00 AP2A1 0 genome.wustl.edu 37 19 50308789 50308789 + Nonsense_Mutation SNP C C A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 19 50308789 50308789 C A SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known nonsense c.2424 p.C808* 0.988 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 tier1 - - 60 0 0.00 40 46 53.49 9 0 0.00 1 7 87.50 CC2D1A 0 genome.wustl.edu 37 19 14024037 14024037 + Silent SNP G G A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 19 14024037 14024037 G A SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known silent c.435 p.A145 0.098 smart_DM14 pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 tier1 - - 85 0 0.00 58 41 41.41 17 0 0.00 4 13 76.47 CDH8 0 genome.wustl.edu 37 16 61891134 61891134 + Missense_Mutation SNP C C A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 16 61891134 61891134 C A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.556 p.V186F 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 71 0 0.00 5 39 88.64 52 0 0.00 2 22 91.67 FDPS 0 genome.wustl.edu 37 1 155290334 155290342 + In_Frame_Del DEL CGCAGCACC CGCAGCACC - TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 CGCAGCACC CGCAGCACC CGCAGCACC - CGCAGCACC CGCAGCACC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 1 155290334 155290342 CGCAGCACC - DEL FDPS ENST00000356657 human ensembl 74_37 +1 known in_frame_del c.1194_1202 p.AAP399in_frame_del 0.862:0.905:0.903:0.002:0.000:0.001:0.001:0.936:0.989 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 tier1 16 0 0.00 7 2 22.22 16 0 0.00 7 2 22.22 LENG8 0 genome.wustl.edu 37 19 54965619 54965619 + Missense_Mutation SNP C C G TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 19 54965619 54965619 C G SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.437 p.P146R 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 tier1 - - 128 0 0.00 61 55 47.01 11 0 0.00 4 11 73.33 MICA 0 genome.wustl.edu 37 6 31378924 31378924 + Missense_Mutation SNP A A G TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 6 31378924 31378924 A G SNP MICA ENST00000449934 human ensembl 74_37 +1 known missense c.401 p.Y134C 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICA HGNC ENSG00000204520 tier1 - - 56 0 0.00 32 29 46.77 21 0 0.00 2 14 87.50 PAK3 0 genome.wustl.edu 37 X 110390987 110390987 + Missense_Mutation SNP G G A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 X 110390987 110390987 G A SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known missense c.407 p.R136Q 1.000 pfam_CRIB_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 tier1 - - 45 0 0.00 3 38 92.68 95 0 0.00 8 66 89.19 RIPK4 0 genome.wustl.edu 37 21 43161030 43161030 + Missense_Mutation SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 21 43161030 43161030 C T SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.2467 p.A823T 0.000 NULL pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 tier1 rs142879262 - 150 0 0.00 75 62 44.93 12 0 0.00 4 7 63.64 ZC3H18 0 genome.wustl.edu 37 16 88677733 88677744 + In_Frame_Del DEL GAGCGGGACCGA GAGCGGGACCGA - TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 GAGCGGGACCGA GAGCGGGACCGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 16 88677733 88677744 GAGCGGGACCGA - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known in_frame_del c.1264_1275 p.DRER424in_frame_del 0.989:1.000:1.000:1.000:1.000:0.998:1.000:1.000:0.992:0.997:0.991:0.721 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 20 0 0.00 0 1 100.00 20 0 0.00 0 1 100.00 RYR1 0 genome.wustl.edu 37 19 38964203 38964203 + Missense_Mutation SNP G G A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 19 38964203 38964203 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.3952 p.A1318T 0.013 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 85 0 0.00 160 51 24.06 0 0 0.00 0 0 0.00 SPPL2B 0 genome.wustl.edu 37 19 2341094 2341101 + R DEL CTCCCTGG CTCCCTGG - TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 CTCCCTGG CTCCCTGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 19 2341094 2341101 CTCCCTGG - DEL SPPL2B ENST00000592738 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.010:0.001:0.000:0.000:0.001:0.000 - - - no_errors SPPL2B HGNC ENSG00000005206 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 DAPL1 0 genome.wustl.edu 37 2 159710125 159710125 + Missense_Mutation SNP C C A TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 2 159710125 159710125 C A SNP DAPL1 ENST00000409042 human ensembl 74_37 +1 putative missense c.319 p.P107T 0.834 NULL NULL - no_errors DAPL1 HGNC ENSG00000163331 tier1 - - 119 0 0.00 71 67 48.55 0 0 0.00 0 3 100.00 TREML1 0 genome.wustl.edu 37 6 41121641 41121641 + Silent SNP C C T TCGA-DX-A48R-01A-11D-A307-09 TCGA-DX-A48R-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 09bcb1b5-568d-4ec4-99a2-5401f231aae8 ab74d2ac-412f-4c3a-988e-920595b8fcc1 6 41121641 41121641 C T SNP TREML1 ENST00000426005 human ensembl 74_37 -1 known silent c.231 p.T77 0.000 pfam_Ig_V-set pfam_Ig_V-set - no_errors TREML1 HGNC ENSG00000161911 tier1 rs201231028 - 156 0 0.00 115 23 16.67 38 0 0.00 27 2 6.90