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 LRIF1 0 genome.wustl.edu 37 1 111494912 111494912 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 111494912 111494912 C T SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known silent c.594 p.A198 0.939 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 24 0 0 45 14 23.7288 FLG 0 genome.wustl.edu 37 1 152282997 152282997 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 152282997 152282997 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.4365 p.H1455 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 155 0 0 423 100 19.1205 OR6Y1 0 genome.wustl.edu 37 1 158517539 158517539 + Silent SNP A A T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 158517539 158517539 A T SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known silent c.357 p.L119 0.014 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 39 0 0 193 12 5.85366 TNR 0 genome.wustl.edu 37 1 175293536 175293536 + Silent SNP G G T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 175293536 175293536 G T SNP TNR ENST00000263525 human ensembl 74_37 -1 known silent c.3913 p.R1305 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom 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 28 0 0 65 14 17.7215 DIEXF 0 genome.wustl.edu 37 1 210004191 210004191 + Missense_Mutation SNP G G C TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 210004191 210004191 G C SNP DIEXF ENST00000491415 human ensembl 74_37 +1 known missense c.191 p.S64T 1.000 NULL pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase - no_errors DIEXF HGNC ENSG00000117597 40 0 0 138 27 16.3636 H3F3A 0 genome.wustl.edu 37 1 226252104 226252104 + Missense_Mutation SNP A A G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 226252104 226252104 A G SNP H3F3A ENST00000366813 human ensembl 74_37 +1 known missense c.52 p.R18G 0.996 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3A HGNC ENSG00000163041 28 0 0 58 44 43.1373 RAB4A 0 genome.wustl.edu 37 1 229438703 229438703 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 229438703 229438703 C T SNP RAB4A ENST00000366690 human ensembl 74_37 +1 known silent c.636 p.N212 0.286 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB4A HGNC ENSG00000168118 88 0 0 205 55 21.1538 SIPA1L2 0 genome.wustl.edu 37 1 232650081 232650081 + Missense_Mutation SNP C C G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 232650081 232650081 C G SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.1005 p.Q335H 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 55 0 0 103 72 41.1429 RYR2 0 genome.wustl.edu 37 1 237711767 237711767 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 237711767 237711767 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.2937 p.M979I 1.000 pfam_Ryanodine_rcpt 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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 14 0 0 56 9 13.8462 MATN1 0 genome.wustl.edu 37 1 31188993 31188993 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 31188993 31188993 G A SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.970 p.R324C 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 67 0 0 61 43 41.3462 CSMD2 0 genome.wustl.edu 37 1 34180219 34180219 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 34180219 34180219 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.3374 p.R1125H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 223 0 0 232 125 35.014 C1orf168 0 genome.wustl.edu 37 1 57257869 57257869 + Missense_Mutation SNP A A G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 57257869 57257869 A G SNP C1orf168 ENST00000343433 human ensembl 74_37 -1 known missense c.617 p.L206S 0.000 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 83 0 0 128 52 28.8889 C1orf141 0 genome.wustl.edu 37 1 67591508 67591508 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 67591508 67591508 G A SNP C1orf141 ENST00000371006 human ensembl 74_37 -1 known missense c.160 p.L54F 0.000 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 45 0 0 104 38 26.7606 DIRAS3 0 genome.wustl.edu 37 1 68512429 68512429 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 68512429 68512429 G A SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known silent c.552 p.T184 0.000 pfam_Small_GTPase,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,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 DIRAS3 HGNC ENSG00000162595 75 0 0 120 34 22.0779 PDZD7 0 genome.wustl.edu 37 10 102778901 102778901 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 10 102778901 102778901 G A SNP PDZD7 ENST00000370215 human ensembl 74_37 -1 known silent c.1002 p.S334 0.664 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 8 0 0 6 4 40 BEND7 0 genome.wustl.edu 37 10 13523095 13523095 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 10 13523095 13523095 G A SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known silent c.867 p.D289 0.999 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 34 0 0 66 26 28.2609 CUBN 0 genome.wustl.edu 37 10 17153024 17153024 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 10 17153024 17153024 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.909 p.C303 0.329 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_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 43 0 0 58 24 29.2683 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 23 0 0 67 4 5.6338 TRPC6 0 genome.wustl.edu 37 11 101375501 101375501 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 11 101375501 101375501 G A SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.199 p.R67W 1.000 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 59 0 0 132 46 25.8427 PSMC3 0 genome.wustl.edu 37 11 47445614 47445614 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 11 47445614 47445614 C T SNP PSMC3 ENST00000298852 human ensembl 74_37 -1 known missense c.574 p.D192N 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 198 0 0 274 103 27.321 MYRF 0 genome.wustl.edu 37 11 61548671 61548671 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 11 61548671 61548671 C T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known silent c.2634 p.S878 0.997 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 123 0 0 142 48 25.2632 NPAS4 0 genome.wustl.edu 37 11 66191453 66191453 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 11 66191453 66191453 C T SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known silent c.1092 p.T364 0.138 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 175 0 0 296 81 21.4854 AMOTL1 0 genome.wustl.edu 37 11 94602562 94602562 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 11 94602562 94602562 C T SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known silent c.2688 p.R896 0.014 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 11 0 0 24 9 27.2727 ANO4 0 genome.wustl.edu 37 12 101442178 101442178 + Missense_Mutation SNP G G C TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 12 101442178 101442178 G C SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.1311 p.W437C 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 27 0 0 75 16 17.5824 TMEM132B 0 genome.wustl.edu 37 12 126135433 126135433 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 12 126135433 126135433 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known silent c.1833 p.P611 0.001 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 37 0 0 41 13 24.0741 ST8SIA1 0 genome.wustl.edu 37 12 22487055 22487055 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 12 22487055 22487055 C T SNP ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known missense c.112 p.V38M 0.999 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 118 0 0 210 78 27.0833 KRT6C 0 genome.wustl.edu 37 12 52864970 52864970 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 12 52864970 52864970 G A SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known silent c.1023 p.Y341 0.985 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 127 0 0 386 85 18.0467 KRT18 0 genome.wustl.edu 37 12 53345379 53345379 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 12 53345379 53345379 G A SNP KRT18 ENST00000388835 human ensembl 74_37 +1 known missense c.772 p.E258K 0.971 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 43 0 0 65 24 26.9663 MARS 0 genome.wustl.edu 37 12 57906632 57906632 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 12 57906632 57906632 C T SNP MARS ENST00000262027 human ensembl 74_37 +1 known missense c.1852 p.R618C 1.000 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 144 0 0 176 161 47.7745 PZP 0 genome.wustl.edu 37 12 9345130 9345130 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 12 9345130 9345130 G A SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.1460 p.S487L 0.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 52 0 0 169 34 16.7488 GPC6 0 genome.wustl.edu 37 13 95034748 95034748 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 13 95034748 95034748 C T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known silent c.1233 p.S411 0.990 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 70 0 0 511 49 8.75 EIF5 0 genome.wustl.edu 37 14 103806119 103806119 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 14 103806119 103806119 C T SNP EIF5 ENST00000216554 human ensembl 74_37 +1 known silent c.1050 p.V350 1.000 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 24 0 0 69 5 6.75676 AP1G2 0 genome.wustl.edu 37 14 24033856 24033856 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 14 24033856 24033856 G A SNP AP1G2 ENST00000308724 human ensembl 74_37 -1 known missense c.836 p.T279M 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 57 0 0 57 12 17.3913 LRFN5 0 genome.wustl.edu 37 14 42356678 42356678 + Missense_Mutation SNP T T A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 14 42356678 42356678 T A SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.850 p.C284S 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 49 0 0 124 33 21.0191 KCNH5 0 genome.wustl.edu 37 14 63483640 63483640 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 14 63483640 63483640 C T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.106 p.V36M 1.000 superfamily_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 29 0 0 82 28 25.4545 TMEM63C 0 genome.wustl.edu 37 14 77709373 77709373 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 14 77709373 77709373 G A SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known missense c.1315 p.V439I 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 34 0 0 19 23 54.7619 ATP10A 0 genome.wustl.edu 37 15 26026198 26026198 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 15 26026198 26026198 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.622 p.R208W 1.000 pfam_ATPase_P-typ_transduc_dom_A,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 ATP10A HGNC ENSG00000206190 74 0 0 99 38 27.7372 CASC5 0 genome.wustl.edu 37 15 40949646 40949646 + Missense_Mutation SNP A A G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 15 40949646 40949646 A G SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.6766 p.M2256V 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 28 0 0 101 30 22.9008 DUOX2 0 genome.wustl.edu 37 15 45387645 45387645 + Missense_Mutation SNP A A G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 15 45387645 45387645 A G SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.4229 p.L1410P 0.987 pfam_Fe_red_NAD-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 76 0 0 155 62 28.5714 IGDCC4 0 genome.wustl.edu 37 15 65688196 65688196 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 15 65688196 65688196 C T SNP IGDCC4 ENST00000352385 human ensembl 74_37 -1 novel missense c.1303 p.V435I 0.444 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC4 HGNC ENSG00000103742 13 0 0 18 9 33.3333 LCTL 0 genome.wustl.edu 37 15 66857601 66857601 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 15 66857601 66857601 C T SNP LCTL ENST00000341509 human ensembl 74_37 -1 known missense c.103 p.G35R 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 23 0 0 69 14 16.8675 PAQR5 0 genome.wustl.edu 37 15 69677202 69677202 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 15 69677202 69677202 C T SNP PAQR5 ENST00000340965 human ensembl 74_37 +1 known silent c.366 p.A122 0.847 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR5 HGNC ENSG00000137819 41 0 0 47 15 24.1935 KIAA1024 0 genome.wustl.edu 37 15 79749511 79749511 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 15 79749511 79749511 G A SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.1022 p.G341E 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 71 0 0 211 56 20.9738 ITGAL 0 genome.wustl.edu 37 16 30505536 30505536 + Missense_Mutation SNP A A G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 16 30505536 30505536 A G SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.1217 p.Y406C 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 104 0 0 171 45 20.8333 PDPR 0 genome.wustl.edu 37 16 70176523 70176523 + Silent SNP A A G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 16 70176523 70176523 A G SNP PDPR ENST00000288050 human ensembl 74_37 +1 known silent c.1539 p.E513 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 56 0 0 181 33 15.4206 HYDIN 0 genome.wustl.edu 37 16 71127826 71127826 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 16 71127826 71127826 C T SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.1340 p.R447H 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 28 0 0 84 29 25.6637 MYH3 0 genome.wustl.edu 37 17 10535852 10535852 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 17 10535852 10535852 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.4897 p.A1633T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 181 0 0 199 89 30.9028 RAB5C 0 genome.wustl.edu 37 17 40278857 40278857 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 17 40278857 40278857 C T SNP RAB5C ENST00000346213 human ensembl 74_37 -1 known missense c.451 p.A151T 1.000 pfam_Small_GTPase,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,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5C HGNC ENSG00000108774 88 0 0 68 46 40.3509 WNK4 0 genome.wustl.edu 37 17 40948262 40948262 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 17 40948262 40948262 C T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.3553 p.R1185C 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 WNK4 HGNC ENSG00000126562 31 0 0 26 18 40.9091 RND2 0 genome.wustl.edu 37 17 41179268 41179268 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 17 41179268 41179268 G A SNP RND2 ENST00000544533 human ensembl 74_37 +1 known missense c.259 p.D87N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RND2 HGNC ENSG00000108830 148 0 0 207 68 24.7273 TP53 0 genome.wustl.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T C TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 17 7578235 7578235 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.614 p.Y205C 0.989 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 45 0 0 17 53 75.7143 CSNK1D 0 genome.wustl.edu 37 17 80231183 80231183 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 17 80231183 80231183 G A SNP CSNK1D ENST00000314028 human ensembl 74_37 -1 known silent c.75 p.L25 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1D HGNC ENSG00000141551 28 0 0 6 23 79.3103 SERPINB13 0 genome.wustl.edu 37 18 61260156 61260156 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 18 61260156 61260156 C T SNP SERPINB13 ENST00000344731 human ensembl 74_37 +1 known silent c.423 p.A141 0.639 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 45 0 0 111 38 25.5034 SLC1A6 0 genome.wustl.edu 37 19 15072947 15072947 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 19 15072947 15072947 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.802 p.A268T 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 87 0 0 134 48 26.3736 CPAMD8 0 genome.wustl.edu 37 19 17038952 17038952 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 19 17038952 17038952 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.3378 p.T1126 0.968 pfam_Methyltransf_FA pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 57 0 0 91 35 27.7778 HNRNPUL1 0 genome.wustl.edu 37 19 41808848 41808848 + Nonsense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 19 41808848 41808848 C T SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known nonsense c.1966 p.R656* 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 58 0 0 75 5 6.25 EML2 0 genome.wustl.edu 37 19 46119147 46119147 + Missense_Mutation SNP C C A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 19 46119147 46119147 C A SNP EML2 ENST00000587152 human ensembl 74_37 -1 known missense c.2113 p.G705C 1.000 pfam_WD40_repeat,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 26 0 0 46 7 13.2075 TMEM143 0 genome.wustl.edu 37 19 48863423 48863423 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 19 48863423 48863423 G A SNP TMEM143 ENST00000293261 human ensembl 74_37 -1 known missense c.275 p.S92L 0.996 NULL pfam_DUF3754 - no_errors TMEM143 HGNC ENSG00000161558 36 0 0 50 39 43.8202 ZNF880 0 genome.wustl.edu 37 19 52887688 52887688 + Missense_Mutation SNP T T A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 19 52887688 52887688 T A SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.855 p.N285K 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ENSG00000221923 30 0 0 42 75 64.1026 ZNF845 0 genome.wustl.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 19 53856730 53856730 G A SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known silent c.2802 p.K934 0.672 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ENSG00000213799 10 0 0 82 7 7.86517 ZNF845 0 genome.wustl.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 19 53856761 53856761 T C SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.2833 p.C945R 0.612 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF845 HGNC ENSG00000213799 9 0 0 71 7 8.97436 LRP1B 0 genome.wustl.edu 37 2 141607716 141607716 + Nonsense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 141607716 141607716 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.4894 p.R1632* 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 27 0 0 117 36 23.5294 NEB 0 genome.wustl.edu 37 2 152348933 152348933 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 152348933 152348933 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.24841 p.R8281W 1.000 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 34 0 0 88 27 23.4783 ITGB6 0 genome.wustl.edu 37 2 160994710 160994710 + Nonsense_Mutation SNP C C A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 160994710 160994710 C A SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known nonsense c.1108 p.E370* 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 49 0 0 108 51 32.0755 TLK1 0 genome.wustl.edu 37 2 171902756 171902756 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 171902756 171902756 G A SNP TLK1 ENST00000431350 human ensembl 74_37 -1 known missense c.1097 p.P366L 1.000 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_Prot_kinase_dom - no_errors TLK1 HGNC ENSG00000198586 44 0 0 181 61 25.2066 TTN 0 genome.wustl.edu 37 2 179428276 179428276 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 179428276 179428276 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.74879 p.R24960Q 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 53 0 0 140 48 25.5319 ZNF385B 0 genome.wustl.edu 37 2 180348116 180348116 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 180348116 180348116 C T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.553 p.V185I 1.000 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 26 0 0 78 12 13.3333 NCKAP1 0 genome.wustl.edu 37 2 183860435 183860435 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 183860435 183860435 G A SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known silent c.753 p.S251 0.990 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 30 0 0 83 30 26.5487 USP37 0 genome.wustl.edu 37 2 219324515 219324515 + Nonsense_Mutation SNP C C A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 219324515 219324515 C A SNP USP37 ENST00000258399 human ensembl 74_37 -1 known nonsense c.2641 p.E881* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 57 0 0 122 85 41.0628 DES 0 genome.wustl.edu 37 2 220290450 220290450 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 220290450 220290450 G A SNP DES ENST00000373960 human ensembl 74_37 +1 known missense c.1354 p.E452K 1.000 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors DES HGNC ENSG00000175084 10 0 0 21 3 12.5 CXXC11 0 genome.wustl.edu 37 2 242814202 242814202 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 242814202 242814202 C T SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known silent c.495 p.N165 0.000 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 17 0 0 4 3 42.8571 ABCG5 0 genome.wustl.edu 37 2 44065004 44065004 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 44065004 44065004 G A SNP ABCG5 ENST00000260645 human ensembl 74_37 -1 known silent c.234 p.S78 0.937 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 78 0 0 177 33 15.7143 MPHOSPH10 0 genome.wustl.edu 37 2 71360098 71360098 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 71360098 71360098 G A SNP MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known missense c.160 p.E54K 0.994 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 23 0 0 71 30 29.703 ASAP2 0 genome.wustl.edu 37 2 9475294 9475294 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 2 9475294 9475294 G A SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.835 p.V279I 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 34 0 0 93 46 33.0935 SIRPD 0 genome.wustl.edu 37 20 1532406 1532406 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 20 1532406 1532406 C T SNP SIRPD ENST00000381623 human ensembl 74_37 -1 known missense c.352 p.V118M 0.887 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIRPD HGNC ENSG00000125900 33 0 0 218 36 14.1732 TGM3 0 genome.wustl.edu 37 20 2298062 2298062 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 20 2298062 2298062 G A SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.914 p.R305Q 0.201 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 103 0 0 393 55 12.2768 NINL 0 genome.wustl.edu 37 20 25456683 25456683 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 20 25456683 25456683 C T SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.3244 p.D1082N 0.006 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 58 0 0 195 31 13.7168 FRG1B 0 genome.wustl.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 20 29628236 29628236 G C SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.238 p.A80P 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 33 0 0 323 20 5.8309 MYBL2 0 genome.wustl.edu 37 20 42343870 42343870 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 20 42343870 42343870 G A SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known missense c.1921 p.E641K 0.907 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 246 0 0 843 132 13.5385 ZNF831 0 genome.wustl.edu 37 20 57767405 57767405 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 20 57767405 57767405 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.1331 p.T444M 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 45 0 0 90 14 13.4615 HSPA13 0 genome.wustl.edu 37 21 15746181 15746181 + Silent SNP T T C TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 21 15746181 15746181 T C SNP HSPA13 ENST00000285667 human ensembl 74_37 -1 known silent c.1173 p.E391 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA13 HGNC ENSG00000155304 45 0 0 194 49 20.1646 C22orf29 0 genome.wustl.edu 37 22 19839351 19839351 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 22 19839351 19839351 C T SNP C22orf29 ENST00000328554 human ensembl 74_37 -1 known missense c.434 p.R145H 0.000 NULL NULL - no_errors C22orf29 HGNC ENSG00000215012 114 0 0 106 46 30.2632 GOLGA4 0 genome.wustl.edu 37 3 37379168 37379168 + Silent SNP A A G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 3 37379168 37379168 A G SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known silent c.6339 p.A2113 0.990 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 14 0 0 35 11 23.913 ULK4 0 genome.wustl.edu 37 3 41860979 41860979 + Missense_Mutation SNP G G C TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 3 41860979 41860979 G C SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known missense c.1784 p.P595R 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 27 0 0 45 31 40.7895 ROBO1 0 genome.wustl.edu 37 3 78766527 78766527 + Missense_Mutation SNP G G T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 3 78766527 78766527 G T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.815 p.A272E 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 47 0 0 150 9 5.66038 TTC29 0 genome.wustl.edu 37 4 147824735 147824735 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 4 147824735 147824735 C T SNP TTC29 ENST00000398886 human ensembl 74_37 -1 known missense c.625 p.E209K 0.995 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 13 0 0 28 6 17.6471 TRIML2 0 genome.wustl.edu 37 4 189012857 189012857 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 4 189012857 189012857 C T SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known silent c.834 p.K278 0.002 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 189 0 0 165 70 29.7872 GABRG1 0 genome.wustl.edu 37 4 46066506 46066506 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 4 46066506 46066506 G A SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.577 p.H193Y 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 32 0 0 105 36 25.5319 PPBP 0 genome.wustl.edu 37 4 74853296 74853296 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 4 74853296 74853296 G A SNP PPBP ENST00000296028 human ensembl 74_37 -1 known silent c.222 p.P74 0.001 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors PPBP HGNC ENSG00000163736 33 0 0 67 39 36.7925 GAK 0 genome.wustl.edu 37 4 860839 860839 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 4 860839 860839 G A SNP GAK ENST00000314167 human ensembl 74_37 -1 known missense c.2777 p.P926L 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 77 0 0 32 24 42.8571 DMP1 0 genome.wustl.edu 37 4 88583812 88583812 + Missense_Mutation SNP C C A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 4 88583812 88583812 C A SNP DMP1 ENST00000339673 human ensembl 74_37 +1 known missense c.882 p.D294E 1.000 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 23 0 0 43 18 29.5082 YTHDC2 0 genome.wustl.edu 37 5 112868582 112868582 + Nonsense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 5 112868582 112868582 C T SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known nonsense c.682 p.Q228* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 36 0 0 50 22 30.5556 PRR16 0 genome.wustl.edu 37 5 120021685 120021685 + Missense_Mutation SNP C C A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 5 120021685 120021685 C A SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known missense c.196 p.Q66K 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 24 0 0 68 35 33.9806 FBN2 0 genome.wustl.edu 37 5 127686616 127686616 + Missense_Mutation SNP T T G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 5 127686616 127686616 T G SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.2756 p.E919A 1.000 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 55 0 0 110 14 11.2903 HTR4 0 genome.wustl.edu 37 5 147900486 147900486 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 5 147900486 147900486 G A SNP HTR4 ENST00000362016 human ensembl 74_37 -1 known missense c.548 p.A183V 0.004 pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 23 0 0 16 37 69.8113 HMP19 0 genome.wustl.edu 37 5 173491317 173491317 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 5 173491317 173491317 C T SNP HMP19 ENST00000303177 human ensembl 74_37 +1 known missense c.212 p.T71M 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG2 Uniprot_gn ENSG00000170091 9 0 0 41 16 28.0702 GUSBP1 0 genome.wustl.edu 37 5 21497235 21497235 + RNA SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 5 21497235 21497235 C T SNP GUSBP1 ENST00000508260 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GUSBP1 HGNC ENSG00000183666 45 0 0 95 5 5 UGT3A2 0 genome.wustl.edu 37 5 36049480 36049480 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 5 36049480 36049480 C T SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known silent c.354 p.A118 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 28 0 0 148 30 16.8539 VCAN 0 genome.wustl.edu 37 5 82850854 82850854 + Silent SNP A A G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 5 82850854 82850854 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.9732 p.T3244 0.533 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 33 0 0 49 23 31.9444 CLVS2 0 genome.wustl.edu 37 6 123369783 123369783 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 123369783 123369783 G A SNP CLVS2 ENST00000275162 human ensembl 74_37 +1 known missense c.581 p.R194Q 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 32 0 0 93 67 41.875 STX11 0 genome.wustl.edu 37 6 144508430 144508430 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 144508430 144508430 C T SNP STX11 ENST00000367568 human ensembl 74_37 +1 known silent c.666 p.R222 0.998 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 64 0 0 139 16 10.3226 HIST1H2AK 0 genome.wustl.edu 37 6 27806093 27806093 + Missense_Mutation SNP C C A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 27806093 27806093 C A SNP HIST1H2AK ENST00000330180 human ensembl 74_37 -1 known missense c.25 p.G9C 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AK HGNC ENSG00000184348 38 0 0 78 16 17.0213 HLA-A 0 genome.wustl.edu 37 6 29910607 29910607 + Silent SNP G G C TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 29910607 29910607 G C SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known silent c.147 p.V49 0.021 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 43 0 0 60 10 14.2857 PPP1R10 0 genome.wustl.edu 37 6 30569423 30569423 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 30569423 30569423 C T SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.2726 p.R909H 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 33 0 0 29 33 53.2258 DDR1 0 genome.wustl.edu 37 6 30861167 30861167 + Silent SNP C C G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 30861167 30861167 C G SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known silent c.1314 p.L438 0.452 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 17 0 0 30 12 28.5714 VWA7 0 genome.wustl.edu 37 6 31736828 31736828 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 31736828 31736828 C T SNP VWA7 ENST00000375686 human ensembl 74_37 -1 known silent c.1470 p.V490 1.000 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 15 0 0 32 6 15.7895 TNXB 0 genome.wustl.edu 37 6 32053689 32053689 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 32053689 32053689 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.2986 p.R996W 0.002 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 71 0 0 102 30 22.7273 DLK2 0 genome.wustl.edu 37 6 43418488 43418488 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 43418488 43418488 C T SNP DLK2 ENST00000357338 human ensembl 74_37 -1 known missense c.941 p.G314E 0.997 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK2 HGNC ENSG00000171462 108 0 0 131 39 22.9412 CNR1 0 genome.wustl.edu 37 6 88853594 88853594 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 88853594 88853594 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.1400 p.T467M 1.000 pirsf_Canbinoid_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 149 1 0.666667 299 91 23.3333 PNISR 0 genome.wustl.edu 37 6 99858715 99858715 + Missense_Mutation SNP C C A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 6 99858715 99858715 C A SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.403 p.A135S 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 55 0 0 83 40 32.5203 OR9A4 0 genome.wustl.edu 37 7 141619040 141619040 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 7 141619040 141619040 G A SNP OR9A4 ENST00000548136 human ensembl 74_37 +1 known missense c.365 p.R122H 1.000 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 OR9A4 HGNC ENSG00000258083 83 0 0 160 63 28.2511 OR2A1 0 genome.wustl.edu 37 7 144015544 144015544 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 7 144015544 144015544 C T SNP OR2A1 ENST00000408951 human ensembl 74_37 +1 known silent c.327 p.S109 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A1 HGNC ENSG00000221970 86 0 0 181 27 12.9808 HECW1 0 genome.wustl.edu 37 7 43351432 43351432 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 7 43351432 43351432 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.98 p.R33H 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 70 0 0 231 43 15.6934 NPC1L1 0 genome.wustl.edu 37 7 44555794 44555794 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 7 44555794 44555794 C T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known silent c.3603 p.A1201 0.001 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 10 0 0 15 17 53.125 RADIL 0 genome.wustl.edu 37 7 4856077 4856077 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 7 4856077 4856077 G A SNP RADIL ENST00000399583 human ensembl 74_37 -1 known missense c.1748 p.P583L 0.998 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 23 0 0 37 22 37.2881 TNRC18 0 genome.wustl.edu 37 7 5410958 5410958 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 7 5410958 5410958 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.3267 p.P1089 0.023 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 26 0 0 80 13 13.9785 ADAM22 0 genome.wustl.edu 37 7 87564471 87564471 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 7 87564471 87564471 G A SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known silent c.216 p.T72 0.983 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 27 0 0 34 11 24.4444 DLX5 0 genome.wustl.edu 37 7 96651486 96651486 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 7 96651486 96651486 G A SNP DLX5 ENST00000486603 human ensembl 74_37 -1 putative missense c.551 p.A184V 0.000 smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DLX5 HGNC ENSG00000105880 75 0 0 151 40 20.9424 ANXA13 0 genome.wustl.edu 37 8 124710691 124710691 + Missense_Mutation SNP T T C TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 8 124710691 124710691 T C SNP ANXA13 ENST00000262219 human ensembl 74_37 -1 known missense c.418 p.M140V 1.000 pfam_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 114 0 0 257 50 16.2866 CPSF1 0 genome.wustl.edu 37 8 145619684 145619684 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 8 145619684 145619684 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known silent c.3654 p.V1218 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 20 0 0 27 10 27.027 SLC7A2 0 genome.wustl.edu 37 8 17419560 17419560 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 8 17419560 17419560 G A SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known missense c.1732 p.V578I 0.000 tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 54 0 0 22 40 64.5161 PREX2 0 genome.wustl.edu 37 8 69002817 69002817 + Missense_Mutation SNP C C G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 8 69002817 69002817 C G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2117 p.T706S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 31 0 0 58 21 26.5823 GDF6 0 genome.wustl.edu 37 8 97157137 97157137 + Missense_Mutation SNP C C A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 8 97157137 97157137 C A SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.1022 p.R341L 0.999 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 29 0 0 23 13 36.1111 NR4A3 0 genome.wustl.edu 37 9 102590396 102590396 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 9 102590396 102590396 G A SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known silent c.105 p.S35 0.831 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 56 0 0 80 12 13.0435 ASTN2 0 genome.wustl.edu 37 9 120053646 120053646 + Missense_Mutation SNP T T G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 9 120053646 120053646 T G SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.589 p.I197L 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 57 0 0 33 26 44.0678 CDK5RAP2 0 genome.wustl.edu 37 9 123253728 123253728 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 9 123253728 123253728 G A SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.1339 p.R447C 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 15 0 0 23 6 20.6897 TBC1D8B 0 genome.wustl.edu 37 X 106069407 106069407 + Missense_Mutation SNP T T A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 X 106069407 106069407 T A SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known missense c.975 p.N325K 1.000 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 21 0 0 79 48 37.7953 COL4A6 0 genome.wustl.edu 37 X 107403858 107403858 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 X 107403858 107403858 C T SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.4363 p.G1455R 0.999 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 42 0 0 77 50 39.3701 TENM1 0 genome.wustl.edu 37 X 123540199 123540199 + Missense_Mutation SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 X 123540199 123540199 G A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.5123 p.T1708M 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 29 0 0 105 73 41.0112 DCAF12L2 0 genome.wustl.edu 37 X 125299289 125299289 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 X 125299289 125299289 C T SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.619 p.V207I 0.754 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 46 0 0 47 37 44.0476 SOX3 0 genome.wustl.edu 37 X 139586543 139586543 + Missense_Mutation SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 X 139586543 139586543 C T SNP SOX3 ENST00000370536 human ensembl 74_37 -1 known missense c.683 p.G228D 0.997 pfam_TF_SOX pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 9 0 0 25 17 40.4762 CSF2RA 0 genome.wustl.edu 37 X 1413315 1413315 + Silent SNP G G A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 X 1413315 1413315 G A SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known silent c.741 p.S247 0.000 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 106 0 0 183 48 20.7792 ASMTL 0 genome.wustl.edu 37 X 1546729 1546729 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 X 1546729 1546729 C T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known silent c.795 p.A265 0.000 NULL pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 135 0 0 152 46 23.2323 PAGE3 0 genome.wustl.edu 37 X 55290256 55290256 + Silent SNP C C T TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 X 55290256 55290256 C T SNP PAGE3 ENST00000374951 human ensembl 74_37 -1 known silent c.81 p.V27 0.020 pfam_GAGE pfam_GAGE - no_errors PAGE3 HGNC ENSG00000204279 12 0 0 40 25 38.4615 ENSG00000203849 0 genome.wustl.edu 37 1 142720897 142720898 + RNA INS - - A TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 142720897 142720898 - A INS ENSG00000203849 ENST00000595144 human ensembl 74_37 -1 known rna NULL NULL 0.135:0.096 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 8 0 0 86 10 10.4167 SLC26A9 0 genome.wustl.edu 37 1 205884241 205884251 + Frame_Shift_Del DEL GGGTGAAGAGT GGGTGAAGAGT - TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 GGGTGAAGAGT GGGTGAAGAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 1 205884241 205884251 GGGTGAAGAGT - DEL SLC26A9 ENST00000340781 human ensembl 74_37 -1 known frame_shift_del c.2443_2433 p.L812fs 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 70 0 0 106 8 7.01754 EIF3A 0 genome.wustl.edu 37 10 120809415 120809415 + Frame_Shift_Del DEL T T - TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 10 120809415 120809415 T - DEL EIF3A ENST00000369144 human ensembl 74_37 -1 known frame_shift_del c.2556 p.E853fs 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 146 0 0 325 153 32.0084 MICALCL 0 genome.wustl.edu 37 11 12316344 12316345 + In_Frame_Ins INS - - CTC TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 11 12316344 12316345 - CTC INS MICALCL ENST00000256186 human ensembl 74_37 +1 known in_frame_ins c.1366_1367 p.460in_frame_insP 0.004:0.006 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 22 0 0 57 6 9.52381 EP400 0 genome.wustl.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 12 132547093 132547094 - CAG INS EP400 ENST00000333577 human ensembl 74_37 +1 known in_frame_ins c.8289_8290 p.2767in_frame_insQ 0.900:0.920 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 64 0 0 99 17 14.6552 GLG1 0 genome.wustl.edu 37 16 74502858 74502858 + Frame_Shift_Del DEL C C - TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 16 74502858 74502858 C - DEL GLG1 ENST00000205061 human ensembl 74_37 -1 known frame_shift_del c.2422 p.E808fs 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 62 0 0 71 15 17.4419 DIDO1 0 genome.wustl.edu 37 20 61512380 61512381 + Frame_Shift_Ins INS - - G TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 20 61512380 61512381 - G INS DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_ins c.4928_4927 p.R1643fs 0.000:0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 40 0 0 62 8 11.4286 MICALL2 0 genome.wustl.edu 37 7 1478596 1478596 + Frame_Shift_Del DEL C C - TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 7 1478596 1478596 C - DEL MICALL2 ENST00000297508 human ensembl 74_37 -1 known frame_shift_del c.2002 p.A668fs 0.015 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 60 0 0 66 63 48.8372 AKAP9 0 genome.wustl.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 7 91671392 91671393 AG - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.4986_4987 p.R1666fs 1.000:1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 17 0 0 111 6 5.12821 VPS13B 0 genome.wustl.edu 37 8 100523457 100523458 + In_Frame_Ins INS - - AAG TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 8 100523457 100523458 - AAG INS VPS13B ENST00000358544 human ensembl 74_37 +1 known in_frame_ins c.4425_4426 p.1476in_frame_insK 0.998:1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 31 0 0 121 88 42.1053 ZNF395 0 genome.wustl.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 8 28209226 28209228 GCA - DEL ZNF395 ENST00000344423 human ensembl 74_37 -1 known in_frame_del c.1019_1017 p.A341in_frame_del 0.082:0.295:0.411 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 105 0 0 140 10 6.66667 ZNF189 0 genome.wustl.edu 37 9 104171731 104171752 + Frame_Shift_Del DEL ATACACACAGGAGAGAAACCTT ATACACACAGGAGAGAAACCTT - TCGA-CD-8533-01A-11D-2340-08 TCGA-CD-8533-10A-01D-2341-08 ATACACACAGGAGAGAAACCTT ATACACACAGGAGAGAAACCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a110abe-5f70-40d6-91b0-cabdf62cc4a9 ef0ea92f-074f-4403-b367-d73456d3b6a3 9 104171731 104171752 ATACACACAGGAGAGAAACCTT - DEL ZNF189 ENST00000339664 human ensembl 74_37 +1 known frame_shift_del c.1681_1702 p.H562fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF189 HGNC ENSG00000136870 40 0 0 39 8 17.0213