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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF PRAMEF11 0 genome.wustl.edu 37 1 12887623 12887623 + Missense_Mutation SNP T T G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 12887623 12887623 T G SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known missense c.234 p.E78D 0.134 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 669 0 0 476 26 5.17928 RRNAD1 0 genome.wustl.edu 37 1 156706559 156706559 + RNA SNP G G C TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 156706559 156706559 G C SNP RRNAD1 ENST00000481920 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors RRNAD1 HGNC ENSG00000143303 22 0 0 32 4 11.1111 OLFML2B 0 genome.wustl.edu 37 1 161967627 161967627 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 161967627 161967627 G A SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1462 p.R488W 1.000 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 399 0 0 238 15 5.92885 SELL 0 genome.wustl.edu 37 1 169677923 169677923 + Missense_Mutation SNP G G C TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 169677923 169677923 G C SNP SELL ENST00000236147 human ensembl 74_37 -1 known missense c.146 p.T49S 0.000 smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 12 0 0 7 5 41.6667 TNR 0 genome.wustl.edu 37 1 175292512 175292512 + Missense_Mutation SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 175292512 175292512 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.4058 p.R1353Q 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 154 0 0 101 7 6.48148 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 262 0 0 131 40 23.3918 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 324 0 0 113 69 37.9121 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 16 0 0 10 7 41.1765 SLC1A7 0 genome.wustl.edu 37 1 53558323 53558323 + Silent SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 53558323 53558323 G A SNP SLC1A7 ENST00000371494 human ensembl 74_37 -1 known silent c.934 p.L312 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 140 1 0.70922 79 7 8.13953 CNN3 0 genome.wustl.edu 37 1 95367785 95367785 + Silent SNP A A G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 95367785 95367785 A G SNP CNN3 ENST00000370206 human ensembl 74_37 -1 known silent c.276 p.A92 0.396 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_SM22_calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 53 0 0 38 7 15.5556 ITGA8 0 genome.wustl.edu 37 10 15634288 15634288 + Nonsense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 10 15634288 15634288 G A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known nonsense c.2227 p.R743* 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 51 0 0 34 4 10.5263 MICALCL 0 genome.wustl.edu 37 11 12315180 12315180 + Missense_Mutation SNP C C G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 11 12315180 12315180 C G SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.202 p.R68G 0.003 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 347 1 0.287356 242 25 9.3633 SLC17A8 0 genome.wustl.edu 37 12 100811871 100811871 + Silent SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 12 100811871 100811871 C T SNP SLC17A8 ENST00000323346 human ensembl 74_37 +1 known silent c.1362 p.N454 0.473 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 149 0 0 114 7 5.78512 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 109 1 0.909091 31 41 56.9444 NRXN3 0 genome.wustl.edu 37 14 80271525 80271525 + Missense_Mutation SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 14 80271525 80271525 C T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.4052 p.P1351L 0.675 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 154 1 0.645161 104 9 7.9646 ATP8B4 0 genome.wustl.edu 37 15 50223420 50223420 + Missense_Mutation SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 15 50223420 50223420 C T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.1538 p.R513Q 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 94 0 0 81 5 5.81395 IL16 0 genome.wustl.edu 37 15 81589340 81589340 + Silent SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 15 81589340 81589340 C T SNP IL16 ENST00000302987 human ensembl 74_37 +1 known silent c.1974 p.A658 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 67 0 0 41 5 10.8696 CNOT1 0 genome.wustl.edu 37 16 58619350 58619350 + Missense_Mutation SNP T T G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 16 58619350 58619350 T G SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.698 p.D233A 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 147 0 0 79 8 9.1954 CDH1 0 genome.wustl.edu 37 16 68842595 68842595 + Splice_Site SNP G G T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 16 68842595 68842595 G T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known splice_site c.532-1 e5-1 1.000 - - - no_errors CDH1 HGNC ENSG00000039068 57 0 0 34 7 17.0732 MTSS1L 0 genome.wustl.edu 37 16 70698201 70698201 + Silent SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 16 70698201 70698201 C A SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known silent c.1623 p.G541 0.988 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 64 0 0 11 5 31.25 SPPL2C 0 genome.wustl.edu 37 17 43923555 43923555 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 17 43923555 43923555 G A SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.1283 p.R428Q 0.637 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 104 0 0 97 8 7.61905 DLX4 0 genome.wustl.edu 37 17 48050495 48050495 + Silent SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 17 48050495 48050495 C A SNP DLX4 ENST00000240306 human ensembl 74_37 +1 known silent c.342 p.A114 0.800 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors DLX4 HGNC ENSG00000108813 122 0 0 63 11 14.8649 SPATA20 0 genome.wustl.edu 37 17 48628510 48628510 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 17 48628510 48628510 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1535 p.P512H 1.000 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 37 0 0 20 7 25.9259 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 37 0 0 20 8 28.5714 ME2 0 genome.wustl.edu 37 18 48443718 48443718 + Missense_Mutation SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 18 48443718 48443718 C T SNP ME2 ENST00000321341 human ensembl 74_37 +1 known missense c.470 p.A157V 1.000 pfam_Malic_N,prints_Malic_OxRdtase pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 137 0 0 82 7 7.86517 VPS4B 0 genome.wustl.edu 37 18 61067862 61067862 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 18 61067862 61067862 C A SNP VPS4B ENST00000238497 human ensembl 74_37 -1 known missense c.559 p.V187L 1.000 pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 67 0 0 56 5 8.19672 DOK6 0 genome.wustl.edu 37 18 67365769 67365769 + Missense_Mutation SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 18 67365769 67365769 C T SNP DOK6 ENST00000382713 human ensembl 74_37 +1 known missense c.539 p.P180L 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 60 0 0 58 5 7.93651 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 45 0 0 10 12 54.5455 RDH8 0 genome.wustl.edu 37 19 10129502 10129502 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 19 10129502 10129502 C A SNP RDH8 ENST00000591589 human ensembl 74_37 +1 known missense c.418 p.R140S 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH8 HGNC ENSG00000080511 141 0 0 94 7 6.93069 ARMC6 0 genome.wustl.edu 37 19 19168421 19168421 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 19 19168421 19168421 G A SNP ARMC6 ENST00000392336 human ensembl 74_37 +1 known missense c.1490 p.G497D 0.998 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 59 0 0 38 3 7.31707 CREB3L3 0 genome.wustl.edu 37 19 4154997 4154997 + Silent SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 19 4154997 4154997 C T SNP CREB3L3 ENST00000078445 human ensembl 74_37 +1 known silent c.129 p.G43 0.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 175 0 0 88 6 6.38298 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 190 0 0 67 35 34.3137 TMC4 0 genome.wustl.edu 37 19 54676754 54676754 + Missense_Mutation SNP G G C TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 19 54676754 54676754 G C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.59 p.A20G 0.989 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 339 1 0.294118 145 40 21.6216 RANBP2 0 genome.wustl.edu 37 2 109399073 109399073 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 2 109399073 109399073 C A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.9124 p.Q3042K 1.000 pfam_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 138 0 0 81 8 8.98876 IL1B 0 genome.wustl.edu 37 2 113590381 113590381 + Nonsense_Mutation SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 2 113590381 113590381 C T SNP IL1B ENST00000263341 human ensembl 74_37 -1 known nonsense c.324 p.W108* 0.000 prints_IL-1_beta pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36 - no_errors IL1B HGNC ENSG00000125538 110 0 0 92 5 5.15464 TTN 0 genome.wustl.edu 37 2 179483430 179483430 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 2 179483430 179483430 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39143 p.T13048M 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 89 0 0 68 4 5.55556 TTN 0 genome.wustl.edu 37 2 179582537 179582537 + Missense_Mutation SNP G G T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 2 179582537 179582537 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.21332 p.A7111E 1.000 superfamily_RNaseH-like_dom 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 60 0 0 39 5 11.3636 TTN 0 genome.wustl.edu 37 2 179612559 179612559 + Silent SNP T T C TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 2 179612559 179612559 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known silent c.14568 p.E4856 0.582 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 57 0 0 68 4 5.55556 FOSL2 0 genome.wustl.edu 37 2 28635103 28635103 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 2 28635103 28635103 G A SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known missense c.769 p.G257S 0.676 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 64 0 0 54 4 6.89655 MACROD2 0 genome.wustl.edu 37 20 14066374 14066374 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 20 14066374 14066374 G A SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known missense c.271 p.A91T 0.996 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 68 0 0 28 3 9.67742 CD93 0 genome.wustl.edu 37 20 23065099 23065099 + Silent SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 20 23065099 23065099 G A SNP CD93 ENST00000246006 human ensembl 74_37 -1 known silent c.1731 p.D577 0.252 NULL pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 172 0 0 115 9 7.25806 C20orf194 0 genome.wustl.edu 37 20 3355774 3355774 + Splice_Site SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 20 3355774 3355774 C T SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known splice_site c.409-1 e5-1 1.000 - - - no_errors C20orf194 HGNC ENSG00000088854 240 0 0 149 14 8.58896 GNAS 0 genome.wustl.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 20 57484421 57484421 G A SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.605 p.R202H 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 82 0 0 67 6 8.21918 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 124 1 0.8 57 37 39.3617 MYH15 0 genome.wustl.edu 37 3 108159995 108159995 + Missense_Mutation SNP T T C TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 3 108159995 108159995 T C SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.2828 p.E943G 1.000 superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 109 0 0 103 6 5.50459 PLXNA1 0 genome.wustl.edu 37 3 126751309 126751309 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 3 126751309 126751309 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.5311 p.A1771T 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 190 0 0 90 5 5.26316 MME 0 genome.wustl.edu 37 3 154886414 154886414 + Silent SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 3 154886414 154886414 C T SNP MME ENST00000360490 human ensembl 74_37 +1 known silent c.1914 p.H638 0.916 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 149 0 0 83 9 9.78261 SNRK 0 genome.wustl.edu 37 3 43389767 43389767 + Missense_Mutation SNP G G T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 3 43389767 43389767 G T SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.2016 p.L672F 0.198 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 145 1 0.684932 66 16 19.5122 FYCO1 0 genome.wustl.edu 37 3 46009157 46009157 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 3 46009157 46009157 C A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.1669 p.A557S 0.000 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 122 1 0.813008 59 37 38.5417 RHOA 0 genome.wustl.edu 37 3 49405956 49405956 + Missense_Mutation SNP G G T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 3 49405956 49405956 G T SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.182 p.A61D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 142 0 0 91 6 6.18557 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 226 0 0 62 22 26.1905 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 210 0 0 60 60 50 PCDHA10 0 genome.wustl.edu 37 5 140237548 140237548 + Missense_Mutation SNP A A G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 5 140237548 140237548 A G SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1915 p.T639A 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 45 0 0 37 3 7.5 IL17B 0 genome.wustl.edu 37 5 148754004 148754004 + Silent SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 5 148754004 148754004 C T SNP IL17B ENST00000261796 human ensembl 74_37 -1 known silent c.471 p.P157 0.000 pfam_IL-17_fam pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17B HGNC ENSG00000127743 113 0 0 57 5 8.06452 HSF2 0 genome.wustl.edu 37 6 122743424 122743424 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 6 122743424 122743424 G A SNP HSF2 ENST00000368455 human ensembl 74_37 +1 known missense c.811 p.V271I 0.997 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 168 0 0 165 9 5.17241 GRM1 0 genome.wustl.edu 37 6 146720605 146720605 + Nonsense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 6 146720605 146720605 C A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known nonsense c.2430 p.Y810* 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 140 0 0 96 6 5.88235 OR14J1 0 genome.wustl.edu 37 6 29274611 29274611 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 6 29274611 29274611 G A SNP OR14J1 ENST00000377160 human ensembl 74_37 +1 known missense c.145 p.V49M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14J1 HGNC ENSG00000204695 169 0 0 136 14 9.33333 PRRC2A 0 genome.wustl.edu 37 6 31593818 31593818 + Silent SNP C C G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 6 31593818 31593818 C G SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.861 p.G287 0.997 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 102 0 0 37 27 42.1875 C6orf1 0 genome.wustl.edu 37 6 34214824 34214824 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 6 34214824 34214824 G A SNP C6orf1 ENST00000394990 human ensembl 74_37 -1 known missense c.122 p.P41L 0.992 NULL NULL - no_errors C6orf1 HGNC ENSG00000186577 217 0 0 125 14 10.0719 TRERF1 0 genome.wustl.edu 37 6 42231269 42231269 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 6 42231269 42231269 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.1673 p.P558L 0.984 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 93 0 0 60 4 6.25 CD2AP 0 genome.wustl.edu 37 6 47501376 47501376 + Missense_Mutation SNP G G T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 6 47501376 47501376 G T SNP CD2AP ENST00000359314 human ensembl 74_37 +1 known missense c.204 p.L68F 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 68 0 0 53 4 7.01754 CNTNAP2 0 genome.wustl.edu 37 7 146536823 146536823 + Missense_Mutation SNP T T C TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 7 146536823 146536823 T C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.229 p.S77P 0.978 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 93 0 0 63 4 5.97015 SNORD93 0 genome.wustl.edu 37 7 22896252 22896252 + RNA SNP A A T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 7 22896252 22896252 A T SNP SNORD93 ENST00000408813 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors SNORD93 HGNC ENSG00000221740 127 0 0 77 6 7.22892 BRAT1 0 genome.wustl.edu 37 7 2594051 2594051 + Silent SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 7 2594051 2594051 G A SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known silent c.15 p.C5 0.884 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 61 0 0 42 6 12.5 CLIP2 0 genome.wustl.edu 37 7 73771749 73771749 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 7 73771749 73771749 C A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.1157 p.T386K 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 53 0 0 18 9 33.3333 SDAD1P1 0 genome.wustl.edu 37 8 26236978 26236978 + RNA SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 8 26236978 26236978 C T SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.901 - - - no_errors SDAD1P1 HGNC ENSG00000228451 54 0 0 38 3 7.31707 RPS20 0 genome.wustl.edu 37 8 56986648 56986648 + Missense_Mutation SNP G G T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 8 56986648 56986648 G T SNP RPS20 ENST00000009589 human ensembl 74_37 -1 known missense c.74 p.T25K 1.000 pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc - no_errors RPS20 HGNC ENSG00000008988 171 1 0.581395 109 28 20.438 RABEPK 0 genome.wustl.edu 37 9 127990211 127990211 + Silent SNP A A G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 9 127990211 127990211 A G SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known silent c.549 p.P183 0.998 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 98 0 0 58 6 9.375 NHS 0 genome.wustl.edu 37 X 17745826 17745826 + Silent SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 X 17745826 17745826 G A SNP NHS ENST00000380060 human ensembl 74_37 +1 known silent c.3537 p.L1179 0.998 NULL NULL - no_errors NHS HGNC ENSG00000188158 129 1 0.769231 69 19 21.5909 MAGEB10 0 genome.wustl.edu 37 X 27840218 27840218 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 X 27840218 27840218 C A SNP MAGEB10 ENST00000356790 human ensembl 74_37 +1 known missense c.795 p.N265K 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 37 0 0 31 6 16.2162 ARSD 0 genome.wustl.edu 37 X 2836084 2836084 + Silent SNP C C G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 X 2836084 2836084 C G SNP ARSD ENST00000381154 human ensembl 74_37 -1 known silent c.624 p.A208 0.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 16 0 0 9 7 43.75 PCDH19 0 genome.wustl.edu 37 X 99551591 99551591 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 X 99551591 99551591 C A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.3131 p.C1044F 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 41 0 0 25 6 19.3548 MED8 0 genome.wustl.edu 37 1 43850142 43850143 + Frame_Shift_Ins INS - - T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 1 43850142 43850143 - T INS MED8 ENST00000290663 human ensembl 74_37 -1 known frame_shift_ins c.885_884 p.N295fs 0.000:0.000 NULL pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 30 0 0 17 2 10.5263 ENSG00000259648 0 genome.wustl.edu 37 14 68082934 68082934 + RNA DEL T T - TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 14 68082934 68082934 T - DEL ENSG00000259648 ENST00000559968 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-643G16.4 Clone_based_vega_gene ENSG00000259648 24 0 0 25 4 13.7931 BEST2 0 genome.wustl.edu 37 19 12868868 12868870 + In_Frame_Del DEL GAG GAG - TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 19 12868868 12868870 GAG - DEL BEST2 ENST00000042931 human ensembl 74_37 +1 known in_frame_del c.1507_1509 p.E506in_frame_del 0.999:0.999:0.994 NULL pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 70 0 0 20 2 9.09091 MAP7D3 0 genome.wustl.edu 37 X 135313186 135313186 + RNA DEL T T - TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 X 135313186 135313186 T - DEL MAP7D3 ENST00000477124 human ensembl 74_37 -1 putative rna NULL NULL 0.018 - - - no_errors MAP7D3 HGNC ENSG00000129680 17 0 0 15 3 16.6667