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 PRRC2C 0 genome.wustl.edu 37 1 171505357 171505357 + Missense_Mutation SNP T T C TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 1 171505357 171505357 T C SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.2233 p.Y745H 0.998 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 66 0 0 45 3 6.25 BPNT1 0 genome.wustl.edu 37 1 220242771 220242771 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 1 220242771 220242771 C T SNP BPNT1 ENST00000322067 human ensembl 74_37 -1 known missense c.337 p.V113M 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors BPNT1 HGNC ENSG00000162813 116 0 0 96 28 22.5806 NEXN 0 genome.wustl.edu 37 1 78395101 78395101 + Missense_Mutation SNP G G C TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 1 78395101 78395101 G C SNP NEXN ENST00000334785 human ensembl 74_37 +1 known missense c.965 p.R322T 1.000 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 116 0 0 70 29 29.2929 COL24A1 0 genome.wustl.edu 37 1 86591541 86591541 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 1 86591541 86591541 C T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.478 p.D160N 0.988 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 98 0 0 92 6 6.12245 USP54 0 genome.wustl.edu 37 10 75258563 75258563 + Nonsense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 10 75258563 75258563 G A SNP USP54 ENST00000339859 human ensembl 74_37 -1 known nonsense c.4879 p.R1627* 0.958 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 206 0 0 94 32 25.3968 PRR5L 0 genome.wustl.edu 37 11 36484155 36484155 + Missense_Mutation SNP C C A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 11 36484155 36484155 C A SNP PRR5L ENST00000378867 human ensembl 74_37 +1 known missense c.976 p.P326T 0.993 NULL pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 46 0 0 27 6 18.1818 ARFGAP2 0 genome.wustl.edu 37 11 47196833 47196833 + Missense_Mutation SNP G G C TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 11 47196833 47196833 G C SNP ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known missense c.296 p.A99G 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 214 0 0 174 45 20.5479 MS4A14 0 genome.wustl.edu 37 11 60183690 60183690 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 11 60183690 60183690 C T SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.1249 p.P417S 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 115 0 0 55 22 28.5714 FIBP 0 genome.wustl.edu 37 11 65655421 65655421 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 11 65655421 65655421 C T SNP FIBP ENST00000338369 human ensembl 74_37 -1 known missense c.268 p.A90T 1.000 pfam_FIBP pfam_FIBP - no_errors FIBP HGNC ENSG00000172500 40 0 0 17 5 22.7273 WNK1 0 genome.wustl.edu 37 12 1005298 1005298 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 12 1005298 1005298 C T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.7139 p.S2380F 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 150 0 0 167 20 10.6952 GSG1 0 genome.wustl.edu 37 12 13241798 13241798 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 12 13241798 13241798 C T SNP GSG1 ENST00000324458 human ensembl 74_37 -1 known missense c.479 p.R160K 1.000 NULL pfam_GSG-1 - no_errors GSG1 HGNC ENSG00000111305 104 0 0 58 17 22.6667 EP400 0 genome.wustl.edu 37 12 132464274 132464274 + Silent SNP C C A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 12 132464274 132464274 C A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.1479 p.A493 0.103 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 44 0 0 41 3 6.81818 GALNT8 0 genome.wustl.edu 37 12 4853826 4853826 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 12 4853826 4853826 G A SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.820 p.V274I 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 72 0 0 44 28 38.8889 DGKA 0 genome.wustl.edu 37 12 56334503 56334503 + Silent SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 12 56334503 56334503 C T SNP DGKA ENST00000331886 human ensembl 74_37 +1 known silent c.1014 p.V338 0.959 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 139 0 0 374 52 12.2066 DGKA 0 genome.wustl.edu 37 12 56335359 56335359 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 12 56335359 56335359 C T SNP DGKA ENST00000331886 human ensembl 74_37 +1 known missense c.1241 p.P414L 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 224 0 0 800 68 7.8341 MYCBP2 0 genome.wustl.edu 37 13 77671839 77671839 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 13 77671839 77671839 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.9450 p.M3150I 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 264 0 0 205 47 18.6508 FANCM 0 genome.wustl.edu 37 14 45657009 45657009 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 14 45657009 45657009 G A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.4698 p.M1566I 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 74 0 0 43 14 24.5614 ZFYVE26 0 genome.wustl.edu 37 14 68250043 68250043 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 14 68250043 68250043 G A SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.3826 p.P1276S 0.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 293 0 0 188 49 20.6751 MAPKBP1 0 genome.wustl.edu 37 15 42115796 42115796 + Silent SNP C C A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 15 42115796 42115796 C A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known silent c.3768 p.A1256 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 94 0 0 56 14 20 RHBDL3 0 genome.wustl.edu 37 17 30615917 30615917 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 17 30615917 30615917 G A SNP RHBDL3 ENST00000269051 human ensembl 74_37 +1 known missense c.401 p.R134Q 1.000 pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_hand_dom - no_errors RHBDL3 HGNC ENSG00000141314 60 0 0 44 12 21.4286 C17orf85 0 genome.wustl.edu 37 17 3716433 3716433 + Nonsense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 17 3716433 3716433 G A SNP C17orf85 ENST00000389005 human ensembl 74_37 -1 known nonsense c.1768 p.Q590* 1.000 NULL pfam_DUF2414 - no_errors C17orf85 HGNC ENSG00000074356 248 0 0 183 42 18.6667 C17orf85 0 genome.wustl.edu 37 17 3716434 3716434 + Silent SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 17 3716434 3716434 C T SNP C17orf85 ENST00000389005 human ensembl 74_37 -1 known silent c.1767 p.E589 1.000 NULL pfam_DUF2414 - no_errors C17orf85 HGNC ENSG00000074356 242 0 0 180 41 18.552 EFTUD2 0 genome.wustl.edu 37 17 42940215 42940215 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 17 42940215 42940215 G A SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known silent c.1473 p.H491 0.919 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 104 0 0 73 30 29.1262 RALBP1 0 genome.wustl.edu 37 18 9535908 9535908 + Silent SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 18 9535908 9535908 C T SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known silent c.1941 p.S647 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 38 0 0 26 2 7.14286 PPP4R1 0 genome.wustl.edu 37 18 9595144 9595144 + Silent SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 18 9595144 9595144 C T SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known silent c.60 p.V20 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 156 0 0 113 25 18.1159 SUPT5H 0 genome.wustl.edu 37 19 39960816 39960816 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 19 39960816 39960816 G A SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.1432 p.V478M 1.000 pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 359 0 0 206 57 21.673 CKM 0 genome.wustl.edu 37 19 45815134 45815134 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 19 45815134 45815134 G A SNP CKM ENST00000221476 human ensembl 74_37 -1 known silent c.526 p.L176 0.999 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKM HGNC ENSG00000104879 58 0 0 34 10 22.7273 ENSG00000232220 0 genome.wustl.edu 37 19 54377880 54377880 + RNA SNP C C G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 19 54377880 54377880 C G SNP ENSG00000232220 ENST00000413496 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC008440.5 Clone_based_vega_gene ENSG00000232220 17 0 0 13 8 38.0952 KCNF1 0 genome.wustl.edu 37 2 11053370 11053370 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 2 11053370 11053370 C T SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.818 p.T273M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 51 0 0 54 13 19.403 GPR39 0 genome.wustl.edu 37 2 133175294 133175294 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 2 133175294 133175294 G A SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known missense c.679 p.A227T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 103 0 0 66 20 23.2558 GDF7 0 genome.wustl.edu 37 2 20871059 20871059 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 2 20871059 20871059 G A SNP GDF7 ENST00000272224 human ensembl 74_37 +1 known silent c.1227 p.A409 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 27 0 0 23 6 20.6897 TNS1 0 genome.wustl.edu 37 2 218683433 218683433 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 2 218683433 218683433 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.3310 p.R1104W 0.205 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 75 0 0 51 10 16.3934 TCF23 0 genome.wustl.edu 37 2 27373194 27373194 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 2 27373194 27373194 G A SNP TCF23 ENST00000296096 human ensembl 74_37 +1 known silent c.426 p.P142 0.370 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF23 HGNC ENSG00000163792 340 1 0.293255 284 59 17.2012 EMILIN3 0 genome.wustl.edu 37 20 39991532 39991532 + Missense_Mutation SNP A A G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 20 39991532 39991532 A G SNP EMILIN3 ENST00000332312 human ensembl 74_37 -1 known missense c.677 p.F226S 1.000 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 100 0 0 52 14 21.2121 C3orf72 0 genome.wustl.edu 37 3 138669287 138669287 + Missense_Mutation SNP G G C TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 3 138669287 138669287 G C SNP C3orf72 ENST00000383165 human ensembl 74_37 +1 known missense c.401 p.G134A 0.001 NULL NULL - no_errors C3orf72 HGNC ENSG00000206262 65 0 0 47 10 17.5439 GHSR 0 genome.wustl.edu 37 3 172165669 172165669 + Missense_Mutation SNP A A T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 3 172165669 172165669 A T SNP GHSR ENST00000241256 human ensembl 74_37 -1 known missense c.535 p.F179I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 68 0 0 42 5 10.6383 TBCCD1 0 genome.wustl.edu 37 3 186272346 186272346 + Missense_Mutation SNP A A G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 3 186272346 186272346 A G SNP TBCCD1 ENST00000338733 human ensembl 74_37 -1 known missense c.1241 p.V414A 0.968 pfam_Tubulin-bd_cofactor_C_dom pfam_Tubulin-bd_cofactor_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors TBCCD1 HGNC ENSG00000113838 102 0 0 59 14 19.1781 RFC4 0 genome.wustl.edu 37 3 186509621 186509621 + Missense_Mutation SNP T T C TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 3 186509621 186509621 T C SNP RFC4 ENST00000296273 human ensembl 74_37 -1 known missense c.694 p.K232E 0.869 superfamily_P-loop_NTPase pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC4 HGNC ENSG00000163918 206 0 0 175 10 5.40541 KCNH8 0 genome.wustl.edu 37 3 19384207 19384207 + Splice_Site SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 3 19384207 19384207 G A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known splice_site c.570+1 e4+1 1.000 - - - no_errors KCNH8 HGNC ENSG00000183960 161 0 0 96 26 21.3115 SNRK 0 genome.wustl.edu 37 3 43344605 43344605 + RNA SNP T T G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 3 43344605 43344605 T G SNP SNRK ENST00000462810 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNRK HGNC ENSG00000163788 26 0 0 15 7 31.8182 ASB5 0 genome.wustl.edu 37 4 177142387 177142387 + Nonsense_Mutation SNP C C A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 4 177142387 177142387 C A SNP ASB5 ENST00000296525 human ensembl 74_37 -1 known nonsense c.589 p.E197* 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB5 HGNC ENSG00000164122 106 0 0 91 9 9 C4orf50 0 genome.wustl.edu 37 4 5969171 5969171 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 4 5969171 5969171 C T SNP C4orf50 ENST00000531445 human ensembl 74_37 -1 known missense c.1849 p.V617I 0.004 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 174 0 0 63 24 27.5862 F12 0 genome.wustl.edu 37 5 176832124 176832124 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 5 176832124 176832124 C T SNP F12 ENST00000253496 human ensembl 74_37 -1 known missense c.460 p.E154K 0.000 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors F12 HGNC ENSG00000131187 156 1 0.636943 80 22 21.5686 KIAA0947 0 genome.wustl.edu 37 5 5463022 5463022 + Missense_Mutation SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 5 5463022 5463022 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.3575 p.S1192F 0.974 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 25 0 0 16 3 15.7895 ENC1 0 genome.wustl.edu 37 5 73931260 73931260 + Missense_Mutation SNP C C G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 5 73931260 73931260 C G SNP ENC1 ENST00000302351 human ensembl 74_37 -1 known missense c.1051 p.E351Q 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors ENC1 HGNC ENSG00000171617 185 0 0 119 12 9.16031 SMOC2 0 genome.wustl.edu 37 6 168910683 168910683 + Missense_Mutation SNP G G T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 6 168910683 168910683 G T SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.173 p.R58M 0.999 pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 159 0 0 128 37 22.4242 HIST1H1E 0 genome.wustl.edu 37 6 26156976 26156976 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 6 26156976 26156976 G A SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known missense c.358 p.A120T 0.112 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 46 0 0 17 9 34.6154 ZFP57 0 genome.wustl.edu 37 6 29643828 29643828 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 6 29643828 29643828 G A SNP ZFP57 ENST00000488757 human ensembl 74_37 -1 known silent c.132 p.V44 0.342 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZFP57 HGNC ENSG00000204644 383 0 0 189 69 26.7442 RING1 0 genome.wustl.edu 37 6 33177736 33177736 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 6 33177736 33177736 G A SNP RING1 ENST00000374656 human ensembl 74_37 +1 known missense c.284 p.R95Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 62 0 0 36 11 23.4043 CREB5 0 genome.wustl.edu 37 7 28844124 28844124 + Silent SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 7 28844124 28844124 C T SNP CREB5 ENST00000357727 human ensembl 74_37 +1 known silent c.1011 p.T337 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC ENSG00000146592 300 0 0 221 39 15 RNF216 0 genome.wustl.edu 37 7 5781105 5781105 + Missense_Mutation SNP C C A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 7 5781105 5781105 C A SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.543 p.L181F 0.147 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 633 1 0.157729 449 103 18.6594 ESCO2 0 genome.wustl.edu 37 8 27660907 27660907 + Silent SNP C C G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 8 27660907 27660907 C G SNP ESCO2 ENST00000305188 human ensembl 74_37 +1 known silent c.1758 p.T586 0.998 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 251 0 0 195 40 17.0213 SNORD13 0 genome.wustl.edu 37 8 33371030 33371030 + RNA SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 8 33371030 33371030 C T SNP SNORD13 ENST00000459299 human ensembl 74_37 +1 known rna NULL NULL 0.901 - - - no_errors SNORD13 HGNC ENSG00000239039 267 0 0 174 49 21.9731 SULF1 0 genome.wustl.edu 37 8 70536309 70536309 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 8 70536309 70536309 G A SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1727 p.R576H 1.000 pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 102 0 0 80 21 20.7921 PTGDS 0 genome.wustl.edu 37 9 139873804 139873804 + Silent SNP C C T TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 9 139873804 139873804 C T SNP PTGDS ENST00000224167 human ensembl 74_37 +1 known silent c.384 p.A128 0.004 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth - no_errors PTGDS HGNC ENSG00000107317 29 0 0 25 6 19.3548 FREM1 0 genome.wustl.edu 37 9 14748594 14748594 + Silent SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 9 14748594 14748594 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.5604 p.S1868 0.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 443 0 0 330 76 18.7192 C9orf131 0 genome.wustl.edu 37 9 35045805 35045805 + Missense_Mutation SNP A A G TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 9 35045805 35045805 A G SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.3179 p.Q1060R 0.423 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 327 1 0.304878 194 56 22.4 DAPK1 0 genome.wustl.edu 37 9 90321137 90321137 + Missense_Mutation SNP G G A TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 9 90321137 90321137 G A SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.3226 p.V1076M 0.983 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 60 0 0 25 10 28.5714 LRRC8B 0 genome.wustl.edu 37 1 90058582 90058582 + Frame_Shift_Del DEL A A - TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 1 90058582 90058582 A - DEL LRRC8B ENST00000330947 human ensembl 74_37 +1 known frame_shift_del c.2392 p.T798fs 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 261 0 0 172 45 20.7373 TJP1 0 genome.wustl.edu 37 15 30065540 30065545 + In_Frame_Del DEL TCCAAA TCCAAA - TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 TCCAAA TCCAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 15 30065540 30065545 TCCAAA - DEL TJP1 ENST00000346128 human ensembl 74_37 -1 known in_frame_del c.105_100 p.FG34in_frame_del 0.996:1.000:1.000:1.000:1.000:1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 262 0 0 186 23 11.0048 ABCA9 0 genome.wustl.edu 37 17 67004307 67004317 + Frame_Shift_Del DEL CCAGTGCTTGG CCAGTGCTTGG - TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 CCAGTGCTTGG CCAGTGCTTGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 17 67004307 67004317 CCAGTGCTTGG - DEL ABCA9 ENST00000340001 human ensembl 74_37 -1 known frame_shift_del c.3217_3207 p.Q1070fs 1.000:0.982:0.928:0.629:0.014:0.976:0.999:0.999:1.000:1.000:0.974 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 262 0 0 226 22 8.87097 LTBP4 0 genome.wustl.edu 37 19 41122902 41122902 + Frame_Shift_Del DEL C C - TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 19 41122902 41122902 C - DEL LTBP4 ENST00000308370 human ensembl 74_37 +1 known frame_shift_del c.3121 p.T1042fs 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 74 0 0 62 10 13.8889 ZC3H15 0 genome.wustl.edu 37 2 187368932 187368933 + Frame_Shift_Ins INS - - GA TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 2 187368932 187368933 - GA INS ZC3H15 ENST00000337859 human ensembl 74_37 +1 known frame_shift_ins c.708_709 p.R239fs 1.000:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 105 0 0 114 17 12.9771 SREBF2 0 genome.wustl.edu 37 22 42262865 42262866 + Frame_Shift_Del DEL GA GA - TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 22 42262865 42262866 GA - DEL SREBF2 ENST00000361204 human ensembl 74_37 +1 known frame_shift_del c.119_120 p.E41fs 1.000:0.996 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 367 0 0 248 54 17.8808 TBCCD1 0 genome.wustl.edu 37 3 186272188 186272190 + In_Frame_Del DEL AGA AGA - TCGA-CD-5802-01A-11D-1600-08 TCGA-CD-5802-10A-01D-1600-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1b44966-0f72-4c4f-8783-ab3ffe7f17b2 af722e36-4912-45c4-b431-a2ceff596bac 3 186272188 186272190 AGA - DEL TBCCD1 ENST00000338733 human ensembl 74_37 -1 known in_frame_del c.1399_1397 p.F466in_frame_del 1.000:1.000:1.000 NULL pfam_Tubulin-bd_cofactor_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors TBCCD1 HGNC ENSG00000113838 225 0 0 224 43 16.1049