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 MTOR 0 genome.wustl.edu 37 1 11193105 11193105 + RNA SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 11193105 11193105 C G SNP MTOR ENST00000495435 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors MTOR HGNC ENSG00000198793 198 0 0 40 24 37.5 NBPF14 0 genome.wustl.edu 37 1 148016443 148016443 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 148016443 148016443 C A SNP NBPF14 ENST00000369219 human ensembl 74_37 -1 known missense c.799 p.V267L 0.000 NULL pfam_NBPF_dom - no_errors NBPF14 HGNC ENSG00000122497 444 0 0 178 67 27.3469 RORC 0 genome.wustl.edu 37 1 151787828 151787828 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 151787828 151787828 C G SNP RORC ENST00000392697 human ensembl 74_37 -1 known missense c.534 p.Q178H 1.000 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,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORC HGNC ENSG00000143365 66 0 0 41 10 19.6078 HRNR 0 genome.wustl.edu 37 1 152186120 152186120 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 152186120 152186120 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.7985 p.L2662S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 49 0 0 19 6 24 HRNR 0 genome.wustl.edu 37 1 152189237 152189237 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 152189237 152189237 C G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.4868 p.S1623T 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 15 0 0 19 8 29.6296 S100A7L2 0 genome.wustl.edu 37 1 153410822 153410822 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 153410822 153410822 C A SNP S100A7L2 ENST00000368725 human ensembl 74_37 -1 known missense c.17 p.G6V 0.001 NULL pfscan_EF_hand_dom - no_errors S100A7L2 HGNC ENSG00000197364 71 0 0 80 5 5.88235 RHBG 0 genome.wustl.edu 37 1 156351872 156351872 + Nonsense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 156351872 156351872 C A SNP RHBG ENST00000368246 human ensembl 74_37 +1 known nonsense c.992 p.S331* 0.226 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 159 0 0 97 43 30.7143 GPR161 0 genome.wustl.edu 37 1 168066053 168066053 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 168066053 168066053 G C SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.852 p.N284K 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 233 0 0 117 41 25.9494 PADI6 0 genome.wustl.edu 37 1 17721556 17721556 + RNA SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 17721556 17721556 G C SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors PADI6 HGNC ENSG00000256049 170 0 0 29 21 42 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 252 0 0 117 37 24.026 CD46 0 genome.wustl.edu 37 1 207933057 207933057 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 207933057 207933057 C T SNP CD46 ENST00000322875 human ensembl 74_37 +1 known missense c.463 p.P155S 0.381 pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC ENSG00000117335 34 0 0 28 9 24.3243 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 320 1 0.311526 76 33 30.2752 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 187 0 0 30 29 49.1525 MEAF6 0 genome.wustl.edu 37 1 37959615 37959615 + RNA SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 37959615 37959615 C G SNP MEAF6 ENST00000475828 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors MEAF6 HGNC ENSG00000163875 162 0 0 77 36 31.8584 MYCL 0 genome.wustl.edu 37 1 40366943 40366943 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 40366943 40366943 G A SNP MYCL ENST00000372816 human ensembl 74_37 -1 known missense c.164 p.A55V 0.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCL HGNC ENSG00000116990 19 0 0 5 3 37.5 C1orf87 0 genome.wustl.edu 37 1 60456237 60456237 + RNA SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 60456237 60456237 C T SNP C1orf87 ENST00000486478 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors C1orf87 HGNC ENSG00000162598 103 0 0 38 28 42.4242 UTS2 0 genome.wustl.edu 37 1 7913445 7913445 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 7913445 7913445 C T SNP UTS2 ENST00000054668 human ensembl 74_37 -1 known missense c.47 p.R16Q 0.110 NULL pfam_Urotensin_II - no_errors UTS2 HGNC ENSG00000049247 158 0 0 58 7 10.7692 ABCD3 0 genome.wustl.edu 37 1 94982785 94982785 + RNA SNP A A T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 94982785 94982785 A T SNP ABCD3 ENST00000464165 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ABCD3 HGNC ENSG00000117528 36 0 0 21 11 34.375 LPPR5 0 genome.wustl.edu 37 1 99470042 99470042 + Silent SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 99470042 99470042 G C SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known silent c.186 p.A62 0.995 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_gn ENSG00000117598 70 0 0 18 13 41.9355 CCDC7 0 genome.wustl.edu 37 10 32742307 32742307 + Silent SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 10 32742307 32742307 C T SNP CCDC7 ENST00000277657 human ensembl 74_37 +1 known silent c.315 p.C105 0.000 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 98 0 0 57 18 24 C10orf53 0 genome.wustl.edu 37 10 50916559 50916559 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 10 50916559 50916559 G A SNP C10orf53 ENST00000374112 human ensembl 74_37 +1 known missense c.370 p.G124R 0.004 NULL NULL - no_errors C10orf53 HGNC ENSG00000178645 287 0 0 113 57 33.5294 CDH23 0 genome.wustl.edu 37 10 73494045 73494045 + Missense_Mutation SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 10 73494045 73494045 T C SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.4168 p.Y1390H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 27 0 0 9 6 40 HMBS 0 genome.wustl.edu 37 11 118963856 118963856 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 118963856 118963856 G A SNP HMBS ENST00000278715 human ensembl 74_37 +1 known missense c.949 p.G317S 1.000 superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth pfam_Porphobilin_deaminase_N,pfam_Porphobilinogen_deaminase_C,superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth,prints_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth - no_errors HMBS HGNC ENSG00000256269 160 0 0 22 25 53.1915 CD81 0 genome.wustl.edu 37 11 2415369 2415369 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 2415369 2415369 G C SNP CD81 ENST00000263645 human ensembl 74_37 +1 known missense c.226 p.G76R 0.998 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD81 HGNC ENSG00000110651 104 0 0 10 14 58.3333 TRPM5 0 genome.wustl.edu 37 11 2436698 2436698 + Missense_Mutation SNP A A C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 2436698 2436698 A C SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known missense c.1138 p.C380G 0.548 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 38 0 0 3 7 70 OR51M1 0 genome.wustl.edu 37 11 5411398 5411398 + Missense_Mutation SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 5411398 5411398 T G SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.770 p.L257R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 91 0 0 28 4 12.5 OR4A15 0 genome.wustl.edu 37 11 55136271 55136271 + Silent SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 55136271 55136271 T G SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known silent c.912 p.T304 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 OR4A15 HGNC ENSG00000181958 336 0 0 261 23 8.09859 OR52B6 0 genome.wustl.edu 37 11 5602275 5602275 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 5602275 5602275 A G SNP OR52B6 ENST00000345043 human ensembl 74_37 +1 known missense c.169 p.T57A 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B6 HGNC ENSG00000187747 84 0 0 50 7 12.2807 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5629607 5629607 + Silent SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 5629607 5629607 G A SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known silent c.840 p.V280 0.997 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 63 0 0 26 4 13.3333 INTS5 0 genome.wustl.edu 37 11 62416240 62416240 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 62416240 62416240 G C SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known missense c.1312 p.L438V 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 127 0 0 30 19 38.7755 VPS51 0 genome.wustl.edu 37 11 64875938 64875938 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 64875938 64875938 C G SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.995 p.A332G 0.859 superfamily_Cullin_repeat-like_dom pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 58 0 0 13 4 23.5294 KLC2 0 genome.wustl.edu 37 11 66026228 66026228 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 66026228 66026228 C G SNP KLC2 ENST00000316924 human ensembl 74_37 +1 known missense c.163 p.Q55E 0.997 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 92 0 0 29 16 35.5556 GPR152 0 genome.wustl.edu 37 11 67218848 67218848 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 67218848 67218848 C T SNP GPR152 ENST00000312457 human ensembl 74_37 -1 known missense c.1348 p.A450T 0.005 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC ENSG00000175514 132 0 0 52 4 7.14286 PHOX2A 0 genome.wustl.edu 37 11 71950893 71950893 + Missense_Mutation SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 71950893 71950893 T C SNP PHOX2A ENST00000298231 human ensembl 74_37 -1 known missense c.755 p.K252R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PHOX2A HGNC ENSG00000165462 10 0 0 4 2 33.3333 GPR83 0 genome.wustl.edu 37 11 94129639 94129639 + Missense_Mutation SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 94129639 94129639 T G SNP GPR83 ENST00000243673 human ensembl 74_37 -1 known missense c.439 p.S147R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 128 0 0 45 18 28.5714 PLA2G1B 0 genome.wustl.edu 37 12 120763699 120763699 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 120763699 120763699 C A SNP PLA2G1B ENST00000308366 human ensembl 74_37 -1 known missense c.159 p.L53F 0.998 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G1B HGNC ENSG00000170890 266 1 0.374532 80 23 22.3301 RIMBP2 0 genome.wustl.edu 37 12 130912757 130912757 + Silent SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 130912757 130912757 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.2328 p.R776 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 79 0 0 28 4 12.5 RIMBP2 0 genome.wustl.edu 37 12 130927120 130927120 + Silent SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 130927120 130927120 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.726 p.T242 0.001 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 141 0 0 57 4 6.55738 LINC00477 0 genome.wustl.edu 37 12 24736768 24736768 + RNA SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 24736768 24736768 C A SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00477 HGNC ENSG00000197503 100 0 0 37 8 17.7778 TEAD4 0 genome.wustl.edu 37 12 3126584 3126584 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 3126584 3126584 G C SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known missense c.375 p.K125N 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 125 0 0 37 25 40.3226 PRPF40B 0 genome.wustl.edu 37 12 49998034 49998034 + RNA SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 49998034 49998034 C G SNP PRPF40B ENST00000508736 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRPF40B HGNC ENSG00000110844 38 0 0 9 15 62.5 BIN2 0 genome.wustl.edu 37 12 51685395 51685395 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 51685395 51685395 G T SNP BIN2 ENST00000267012 human ensembl 74_37 -1 known missense c.1495 p.P499T 0.004 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 111 0 0 19 14 42.4242 BIN2 0 genome.wustl.edu 37 12 51685396 51685396 + Silent SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 51685396 51685396 G T SNP BIN2 ENST00000267012 human ensembl 74_37 -1 known silent c.1494 p.S498 0.001 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 113 0 0 19 14 42.4242 KRT84 0 genome.wustl.edu 37 12 52779341 52779341 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 52779341 52779341 G T SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known missense c.29 p.S10Y 0.986 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 268 0 0 25 24 48.9796 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 130 0 0 25 16 39.0244 CD163 0 genome.wustl.edu 37 12 7649454 7649454 + Missense_Mutation SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 7649454 7649454 T C SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1054 p.K352E 0.067 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 96 0 0 50 34 40.4762 SLC2A14 0 genome.wustl.edu 37 12 7980243 7980243 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 7980243 7980243 G C SNP SLC2A14 ENST00000396589 human ensembl 74_37 -1 known missense c.781 p.Q261E 0.325 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A14 HGNC ENSG00000173262 93 0 0 54 4 6.89655 SLC2A3 0 genome.wustl.edu 37 12 8082432 8082432 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 8082432 8082432 G C SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known missense c.709 p.Q237E 0.532 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 166 0 0 78 21 21.2121 C12orf50 0 genome.wustl.edu 37 12 88379779 88379779 + Missense_Mutation SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 88379779 88379779 T A SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.974 p.K325I 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 185 0 0 32 29 47.541 USP44 0 genome.wustl.edu 37 12 95927762 95927762 + Missense_Mutation SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 12 95927762 95927762 T C SNP USP44 ENST00000258499 human ensembl 74_37 -1 known missense c.271 p.T91A 1.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP44 HGNC ENSG00000136014 85 0 0 46 5 9.80392 CUL4A 0 genome.wustl.edu 37 13 113887618 113887618 + Silent SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 13 113887618 113887618 T C SNP CUL4A ENST00000375440 human ensembl 74_37 +1 known silent c.640 p.L214 0.998 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 114 0 0 16 21 56.7568 NBEA 0 genome.wustl.edu 37 13 35926334 35926334 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 13 35926334 35926334 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.6053 p.E2018G 1.000 pfam_DUF1088 pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 36 0 0 22 12 35.2941 NBEA 0 genome.wustl.edu 37 13 36229748 36229748 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 13 36229748 36229748 G C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.8161 p.D2721H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 332 0 0 171 63 26.9231 TBC1D4 0 genome.wustl.edu 37 13 76055892 76055892 + Silent SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 13 76055892 76055892 G A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known silent c.12 p.P4 0.834 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 32 0 0 7 4 36.3636 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 138 1 0.719424 20 33 62.2642 MIR329-1 0 genome.wustl.edu 37 14 101493150 101493150 + RNA SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 14 101493150 101493150 C T SNP MIR329-1 ENST00000385028 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR329-1 HGNC ENSG00000207761 168 0 0 40 84 67.7419 FSCB 0 genome.wustl.edu 37 14 44974327 44974327 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 14 44974327 44974327 C A SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1864 p.V622F 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 51 0 0 41 8 16.3265 NRXN3 0 genome.wustl.edu 37 14 79433613 79433613 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 14 79433613 79433613 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.2807 p.R936H 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 83 0 0 39 50 56.1798 DLL4 0 genome.wustl.edu 37 15 41222285 41222285 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 15 41222285 41222285 C A SNP DLL4 ENST00000249749 human ensembl 74_37 +1 known missense c.307 p.L103I 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL4 HGNC ENSG00000128917 26 0 0 1 4 80 SPTBN5 0 genome.wustl.edu 37 15 42159828 42159828 + Missense_Mutation SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 15 42159828 42159828 T G SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.6220 p.T2074P 0.993 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 292 0 0 38 56 59.5745 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 113 0 0 28 26 48.1481 ANKDD1A 0 genome.wustl.edu 37 15 65209596 65209596 + Silent SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 15 65209596 65209596 G T SNP ANKDD1A ENST00000380230 human ensembl 74_37 +1 known silent c.150 p.V50 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 26 0 0 5 5 50 IGDCC3 0 genome.wustl.edu 37 15 65623827 65623827 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 15 65623827 65623827 A G SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.1319 p.V440A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 56 0 0 36 21 36.8421 ENSG00000187812 0 genome.wustl.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 15 76074470 76074470 A G SNP ENSG00000187812 ENST00000395215 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 36 0 0 59 8 11.9403 CHRNB4 0 genome.wustl.edu 37 15 78927920 78927920 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 15 78927920 78927920 C T SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known missense c.65 p.R22H 0.459 tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 475 0 0 315 72 18.6047 NFAT5 0 genome.wustl.edu 37 16 69727070 69727070 + Silent SNP A A C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 16 69727070 69727070 A C SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known silent c.3342 p.P1114 0.988 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 320 0 0 116 70 37.6344 SF3B3 0 genome.wustl.edu 37 16 70563087 70563087 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 16 70563087 70563087 C G SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.382 p.R128G 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 130 0 0 54 21 28 WDR90 0 genome.wustl.edu 37 16 708999 708999 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 16 708999 708999 C A SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.2999 p.A1000D 0.714 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 138 0 0 62 31 33.3333 NF1 0 genome.wustl.edu 37 17 29509582 29509582 + Nonsense_Mutation SNP A A T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 29509582 29509582 A T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known nonsense c.787 p.K263* 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 41 0 0 11 17 60.7143 NF1 0 genome.wustl.edu 37 17 29509583 29509583 + Missense_Mutation SNP A A T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 29509583 29509583 A T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.788 p.K263I 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 42 0 0 11 18 62.069 NF1 0 genome.wustl.edu 37 17 29509584 29509584 + Missense_Mutation SNP A A T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 29509584 29509584 A T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.789 p.K263N 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 43 0 0 11 18 62.069 ITGAE 0 genome.wustl.edu 37 17 3657208 3657208 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 3657208 3657208 C T SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.1396 p.A466T 0.940 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 66 0 0 14 22 61.1111 DHX8 0 genome.wustl.edu 37 17 41598738 41598738 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 41598738 41598738 A G SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.3068 p.D1023G 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 44 0 0 14 6 30 TMUB2 0 genome.wustl.edu 37 17 42268059 42268059 + Missense_Mutation SNP A A T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 42268059 42268059 A T SNP TMUB2 ENST00000538716 human ensembl 74_37 +1 known missense c.793 p.S265C 1.000 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors TMUB2 HGNC ENSG00000168591 202 0 0 86 43 33.3333 LRRC37A4P 0 genome.wustl.edu 37 17 43591861 43591861 + RNA SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 43591861 43591861 G A SNP LRRC37A4P ENST00000579913 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors LRRC37A4P HGNC ENSG00000214425 16 0 0 21 6 22.2222 JMJD6 0 genome.wustl.edu 37 17 74714795 74714795 + Silent SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 74714795 74714795 C T SNP JMJD6 ENST00000585429 human ensembl 74_37 -1 putative silent c.1089 p.L363 0.003 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 94 0 0 31 13 29.5455 MFSD11 0 genome.wustl.edu 37 17 74740462 74740462 + Silent SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 74740462 74740462 T A SNP MFSD11 ENST00000336509 human ensembl 74_37 +1 known silent c.555 p.V185 0.995 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 111 0 0 51 27 34.6154 CDH2 0 genome.wustl.edu 37 18 25582961 25582961 + Silent SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 18 25582961 25582961 T C SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known silent c.1020 p.E340 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 162 0 0 107 17 13.7097 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 74 0 0 12 9 42.8571 CDC37 0 genome.wustl.edu 37 19 10506724 10506724 + Silent SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 19 10506724 10506724 G C SNP CDC37 ENST00000222005 human ensembl 74_37 -1 known silent c.258 p.A86 0.182 pfam_Cdc37_N_dom pfam_Cdc37_Hsp90-bd,pfam_Cdc37_N_dom,pfam_Cdc37_C - no_errors CDC37 HGNC ENSG00000105401 254 1 0.392157 111 28 20.1439 DNAJB1 0 genome.wustl.edu 37 19 14629110 14629110 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 19 14629110 14629110 C T SNP DNAJB1 ENST00000254322 human ensembl 74_37 -1 known missense c.52 p.E18K 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB1 HGNC ENSG00000132002 74 0 0 24 9 27.2727 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 183 0 0 58 7 10.7692 COPE 0 genome.wustl.edu 37 19 19030124 19030124 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 19 19030124 19030124 C T SNP COPE ENST00000262812 human ensembl 74_37 -1 known missense c.34 p.G12S 0.995 pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 131 0 0 50 13 20.6349 ZNF682 0 genome.wustl.edu 37 19 20117898 20117898 + Nonsense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 19 20117898 20117898 G C SNP ZNF682 ENST00000397165 human ensembl 74_37 -1 known nonsense c.413 p.S138* 0.011 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF682 HGNC ENSG00000197124 61 0 0 56 12 17.6471 ZNF536 0 genome.wustl.edu 37 19 30935410 30935410 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 19 30935410 30935410 A G SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.941 p.E314G 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 319 0 0 103 20 16.2602 RYR1 0 genome.wustl.edu 37 19 39063921 39063921 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 19 39063921 39063921 G C SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.14103 p.Q4701H 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 55 0 0 20 8 28.5714 PTBP1 0 genome.wustl.edu 37 19 799436 799436 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 19 799436 799436 G C SNP PTBP1 ENST00000356948 human ensembl 74_37 +1 known missense c.32 p.G11A 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 193 0 0 72 24 25 SMPD4 0 genome.wustl.edu 37 2 130931167 130931167 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 2 130931167 130931167 G A SNP SMPD4 ENST00000339679 human ensembl 74_37 -1 known missense c.43 p.R15C 0.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 77 0 0 38 4 9.52381 NR4A2 0 genome.wustl.edu 37 2 157186462 157186462 + Nonsense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 2 157186462 157186462 G T SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known nonsense c.270 p.Y90* 1.000 prints_NURR_rcpt 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_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 165 0 0 66 36 35.2941 DLX1 0 genome.wustl.edu 37 2 172950706 172950706 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 2 172950706 172950706 C G SNP DLX1 ENST00000361725 human ensembl 74_37 +1 known missense c.301 p.L101V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX1 HGNC ENSG00000144355 112 0 0 37 21 36.2069 TTLL4 0 genome.wustl.edu 37 2 219617528 219617528 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 2 219617528 219617528 G T SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.3019 p.V1007F 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 149 0 0 79 37 31.8966 ARHGAP25 0 genome.wustl.edu 37 2 69002222 69002222 + RNA SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 2 69002222 69002222 C A SNP ARHGAP25 ENST00000463061 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGAP25 HGNC ENSG00000163219 90 0 0 51 15 22.7273 RSPO4 0 genome.wustl.edu 37 20 947920 947920 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 20 947920 947920 G T SNP RSPO4 ENST00000217260 human ensembl 74_37 -1 known missense c.306 p.D102E 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO4 HGNC ENSG00000101282 194 0 0 46 29 38.6667 SCAF4 0 genome.wustl.edu 37 21 33064675 33064675 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 21 33064675 33064675 A G SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.1601 p.I534T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 85 0 0 34 14 29.1667 VPREB1 0 genome.wustl.edu 37 22 22599522 22599522 + Missense_Mutation SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 22 22599522 22599522 T A SNP VPREB1 ENST00000403807 human ensembl 74_37 +1 known missense c.211 p.Y71N 0.002 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VPREB1 HGNC ENSG00000169575 218 0 0 57 27 32.1429 PATZ1 0 genome.wustl.edu 37 22 31737418 31737418 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 22 31737418 31737418 C A SNP PATZ1 ENST00000215919 human ensembl 74_37 -1 known missense c.1587 p.R529S 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 162 0 0 65 29 30.8511 RFPL3 0 genome.wustl.edu 37 22 32756703 32756703 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 22 32756703 32756703 C T SNP RFPL3 ENST00000249007 human ensembl 74_37 +1 known missense c.838 p.R280C 0.044 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 118 0 0 90 5 5.26316 C22orf23 0 genome.wustl.edu 37 22 38343297 38343297 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 22 38343297 38343297 G C SNP C22orf23 ENST00000249079 human ensembl 74_37 -1 known missense c.340 p.Q114E 0.126 pfam_UPF0193 pfam_UPF0193 - no_errors C22orf23 HGNC ENSG00000128346 208 0 0 78 14 15.2174 ZBTB11 0 genome.wustl.edu 37 3 101383530 101383530 + Missense_Mutation SNP T T C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 101383530 101383530 T C SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.1652 p.K551R 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 115 0 0 52 24 31.5789 MYH15 0 genome.wustl.edu 37 3 108147527 108147527 + Nonsense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 108147527 108147527 C A SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known nonsense c.3574 p.E1192* 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 146 0 0 76 37 32.7434 SEMA5B 0 genome.wustl.edu 37 3 122632141 122632141 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 122632141 122632141 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.2573 p.A858V 0.999 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 19 0 0 3 2 40 TSEN2 0 genome.wustl.edu 37 3 12538034 12538034 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 12538034 12538034 C T SNP TSEN2 ENST00000284995 human ensembl 74_37 +1 known missense c.289 p.P97S 1.000 pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 166 0 0 91 27 22.8814 TSEN2 0 genome.wustl.edu 37 3 12560614 12560614 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 12560614 12560614 C G SNP TSEN2 ENST00000284995 human ensembl 74_37 +1 known missense c.1017 p.F339L 1.000 pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 176 0 0 63 33 34.375 CP 0 genome.wustl.edu 37 3 148904424 148904424 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 148904424 148904424 C T SNP CP ENST00000264613 human ensembl 74_37 -1 known missense c.1960 p.D654N 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 104 0 0 65 31 32.2917 PLD1 0 genome.wustl.edu 37 3 171451290 171451290 + Nonsense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 171451290 171451290 C A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known nonsense c.550 p.E184* 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 58 0 0 34 10 22.7273 PLD1 0 genome.wustl.edu 37 3 171451291 171451291 + Silent SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 171451291 171451291 C A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known silent c.549 p.L183 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 59 0 0 34 10 22.7273 ATP13A5 0 genome.wustl.edu 37 3 193002749 193002749 + Silent SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 193002749 193002749 G A SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known silent c.3180 p.F1060 0.997 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 68 0 0 68 35 33.9806 ZNF860 0 genome.wustl.edu 37 3 32031638 32031638 + Missense_Mutation SNP A A C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 32031638 32031638 A C SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known missense c.1067 p.H356P 0.007 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 ZNF860 HGNC ENSG00000197385 69 0 0 56 18 24.3243 FYCO1 0 genome.wustl.edu 37 3 46009157 46009157 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 46009157 46009157 C A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.1669 p.A557S 0.000 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 172 1 0.578035 51 31 37.8049 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 179 1 0.555556 50 28 35.8974 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 236 0 0 64 52 44.8276 ITIH4 0 genome.wustl.edu 37 3 52863229 52863229 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 52863229 52863229 C T SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known missense c.157 p.V53I 0.020 pfam_VIT,smart_VIT pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 153 0 0 55 22 28.5714 SETD5 0 genome.wustl.edu 37 3 9512248 9512248 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 9512248 9512248 C G SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.2830 p.L944V 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 332 0 0 129 48 27.1186 MTMR14 0 genome.wustl.edu 37 3 9712789 9712789 + Missense_Mutation SNP A A C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 9712789 9712789 A C SNP MTMR14 ENST00000430020 human ensembl 74_37 +1 known missense c.536 p.D179A 0.773 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 148 0 0 74 30 28.8462 EPHA6 0 genome.wustl.edu 37 3 97356865 97356865 + Missense_Mutation SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 97356865 97356865 T G SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2723 p.V908G 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 123 0 0 73 6 7.59494 PCDH10 0 genome.wustl.edu 37 4 134076151 134076151 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 4 134076151 134076151 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2770 p.D924N 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 124 0 0 19 10 34.4828 TRIM2 0 genome.wustl.edu 37 4 154197234 154197234 + Silent SNP T T G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 4 154197234 154197234 T G SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known silent c.405 p.T135 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 92 0 0 34 4 10.5263 CTSO 0 genome.wustl.edu 37 4 156860571 156860571 + Silent SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 4 156860571 156860571 A G SNP CTSO ENST00000433477 human ensembl 74_37 -1 known silent c.504 p.Y168 0.001 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 235 0 0 46 70 60.3448 FAT1 0 genome.wustl.edu 37 4 187527258 187527258 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 4 187527258 187527258 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.10316 p.V3439A 0.078 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 129 0 0 57 23 28.75 SEL1L3 0 genome.wustl.edu 37 4 25780794 25780794 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 4 25780794 25780794 G C SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.2489 p.A830G 0.995 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 211 0 0 45 38 45.7831 DOK7 0 genome.wustl.edu 37 4 3478203 3478203 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 4 3478203 3478203 G T SNP DOK7 ENST00000389653 human ensembl 74_37 +1 known missense c.466 p.D156Y 0.995 pfam_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK7 HGNC ENSG00000175920 186 0 0 45 25 35.7143 PPAT 0 genome.wustl.edu 37 4 57272680 57272680 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 4 57272680 57272680 G C SNP PPAT ENST00000264220 human ensembl 74_37 -1 known missense c.383 p.A128G 1.000 pfam_GATase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 175 0 0 70 39 35.7798 CABS1 0 genome.wustl.edu 37 4 71200843 71200843 + Silent SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 4 71200843 71200843 G T SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known silent c.87 p.G29 0.988 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 184 0 0 53 33 38.3721 APC 0 genome.wustl.edu 37 5 112175678 112175678 + Silent SNP A A C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 5 112175678 112175678 A C SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.4387 p.R1463 0.994 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 159 0 0 30 11 26.8293 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 246 1 0.404858 47 26 35.6164 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 244 0 0 42 41 49.3976 PCDHGB1 0 genome.wustl.edu 37 5 140731513 140731513 + Silent SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 5 140731513 140731513 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known silent c.1686 p.A562 0.192 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 141 0 0 52 31 37.3494 CSF1R 0 genome.wustl.edu 37 5 149459897 149459897 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 5 149459897 149459897 G T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.310 p.P104T 0.941 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 63 0 0 21 9 30 ZNF300P1 0 genome.wustl.edu 37 5 150310958 150310958 + RNA SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 5 150310958 150310958 G A SNP ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 0.368 - - - no_errors ZNF300P1 HGNC ENSG00000197083 54 0 0 23 8 25.8065 CDHR2 0 genome.wustl.edu 37 5 176016062 176016062 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 5 176016062 176016062 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.2887 p.V963I 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 440 0 0 157 90 36.4372 RASGEF1C 0 genome.wustl.edu 37 5 179545650 179545650 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 5 179545650 179545650 C T SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.1042 p.A348T 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 153 0 0 54 23 29.8701 PRLR 0 genome.wustl.edu 37 5 35065837 35065837 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 5 35065837 35065837 G A SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.1223 p.A408V 0.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 286 1 0.348432 135 12 8.16327 LPA 0 genome.wustl.edu 37 6 160963737 160963737 + Missense_Mutation SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 6 160963737 160963737 T A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.5502 p.Q1834H 1.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 169 0 0 37 28 43.0769 CUL1 0 genome.wustl.edu 37 7 148497615 148497615 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 7 148497615 148497615 G C SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.2272 p.E758Q 1.000 pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 114 0 0 42 25 37.3134 GIMAP6 0 genome.wustl.edu 37 7 150325594 150325594 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 7 150325594 150325594 C G SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known missense c.92 p.R31T 0.000 superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 360 1 0.277008 166 81 32.7935 SP4 0 genome.wustl.edu 37 7 21550647 21550647 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 7 21550647 21550647 G C SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.2115 p.K705N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 91 0 0 46 21 31.3433 NUPL2 0 genome.wustl.edu 37 7 23226693 23226693 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 7 23226693 23226693 G C SNP NUPL2 ENST00000258742 human ensembl 74_37 +1 known missense c.373 p.E125Q 0.998 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 180 0 0 68 25 26.8817 CCDC129 0 genome.wustl.edu 37 7 31682578 31682578 + Nonsense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 7 31682578 31682578 G T SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known nonsense c.1672 p.E558* 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 282 0 0 74 46 38.3333 SEPT14 0 genome.wustl.edu 37 7 55910721 55910721 + Missense_Mutation SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 7 55910721 55910721 C T SNP SEPT14 ENST00000388975 human ensembl 74_37 -1 known missense c.472 p.V158I 0.002 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 20 0 0 14 9 39.1304 GRM3 0 genome.wustl.edu 37 7 86416131 86416131 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 7 86416131 86416131 C A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.1023 p.N341K 0.476 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 75 0 0 27 15 35.7143 TMEM71 0 genome.wustl.edu 37 8 133764031 133764031 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 8 133764031 133764031 C A SNP TMEM71 ENST00000356838 human ensembl 74_37 -1 known missense c.314 p.S105I 0.994 NULL NULL - no_errors TMEM71 HGNC ENSG00000165071 116 0 0 20 50 71.4286 PHF20L1 0 genome.wustl.edu 37 8 133844573 133844573 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 8 133844573 133844573 G A SNP PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative missense c.1838 p.S613N 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 163 0 0 116 19 14.0741 ZNF696 0 genome.wustl.edu 37 8 144378436 144378436 + Silent SNP C C T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 8 144378436 144378436 C T SNP ZNF696 ENST00000330143 human ensembl 74_37 +1 known silent c.591 p.L197 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF696 HGNC ENSG00000185730 49 0 0 7 8 53.3333 LRRC14 0 genome.wustl.edu 37 8 145746159 145746159 + Silent SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 8 145746159 145746159 C G SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known silent c.867 p.L289 1.000 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 147 0 0 23 27 54 OR1L3 0 genome.wustl.edu 37 9 125438067 125438067 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 9 125438067 125438067 G A SNP OR1L3 ENST00000304820 human ensembl 74_37 +1 known missense c.659 p.R220K 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L3 HGNC ENSG00000171481 146 1 0.680272 34 37 52.1127 GLT6D1 0 genome.wustl.edu 37 9 138518015 138518015 + Missense_Mutation SNP C C G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 9 138518015 138518015 C G SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.157 p.A53P 0.987 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 153 1 0.649351 26 12 31.5789 LHX3 0 genome.wustl.edu 37 9 139092519 139092519 + Nonsense_Mutation SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 9 139092519 139092519 T A SNP LHX3 ENST00000371746 human ensembl 74_37 -1 known nonsense c.175 p.K59* 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 69 0 0 10 13 56.5217 ELAVL2 0 genome.wustl.edu 37 9 23701496 23701496 + Missense_Mutation SNP G G C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 9 23701496 23701496 G C SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.594 p.I198M 1.000 smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 354 0 0 36 52 59.0909 KANK1 0 genome.wustl.edu 37 9 711323 711323 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 9 711323 711323 G A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.557 p.S186N 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 75 0 0 28 14 33.3333 PRUNE2 0 genome.wustl.edu 37 9 79323163 79323163 + Nonsense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 9 79323163 79323163 C A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known nonsense c.2950 p.E984* 0.042 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 95 0 0 14 25 64.1026 BTK 0 genome.wustl.edu 37 X 100629566 100629566 + Silent SNP T T A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 X 100629566 100629566 T A SNP BTK ENST00000308731 human ensembl 74_37 -1 known silent c.198 p.T66 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 284 0 0 63 106 62.7219 NRK 0 genome.wustl.edu 37 X 105197131 105197131 + Missense_Mutation SNP A A G TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 X 105197131 105197131 A G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.4622 p.K1541R 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 17 0 0 5 2 28.5714 EIF2S3 0 genome.wustl.edu 37 X 24073777 24073777 + Missense_Mutation SNP C C A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 X 24073777 24073777 C A SNP EIF2S3 ENST00000253039 human ensembl 74_37 +1 known missense c.115 p.Q39K 1.000 superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3 HGNC ENSG00000130741 69 0 0 32 14 30.4348 RGAG4 0 genome.wustl.edu 37 X 71349892 71349892 + Missense_Mutation SNP A A T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 X 71349892 71349892 A T SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known missense c.1499 p.I500K 0.002 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 50 0 0 4 13 76.4706 RPA4 0 genome.wustl.edu 37 X 96139406 96139406 + Missense_Mutation SNP G G A TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 X 96139406 96139406 G A SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known missense c.97 p.A33T 0.000 pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 66 0 0 35 3 7.89474 DDX3Y 0 genome.wustl.edu 37 Y 15029365 15029365 + Missense_Mutation SNP G G T TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 Y 15029365 15029365 G T SNP DDX3Y ENST00000336079 human ensembl 74_37 +1 known missense c.1814 p.G605V 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3Y HGNC ENSG00000067048 70 0 0 15 36 70.5882 SLAMF8 0 genome.wustl.edu 37 1 159805026 159805026 + Frame_Shift_Del DEL C C - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 159805026 159805026 C - DEL SLAMF8 ENST00000289707 human ensembl 74_37 +1 known frame_shift_del c.834 p.V281fs 0.000 NULL pfscan_Ig-like_dom - no_errors SLAMF8 HGNC ENSG00000158714 124 0 0 62 12 16.2162 ADCY10 0 genome.wustl.edu 37 1 167839517 167839540 + In_Frame_Del DEL GGTACTCAATTTTCATAAGTATCT GGTACTCAATTTTCATAAGTATCT - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 GGTACTCAATTTTCATAAGTATCT GGTACTCAATTTTCATAAGTATCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 1 167839517 167839540 GGTACTCAATTTTCATAAGTATCT - DEL ADCY10 ENST00000367851 human ensembl 74_37 -1 known in_frame_del c.1594_1571 p.QILMKIEY524in_frame_del 0.941:0.019:0.007:0.008:0.001:0.001:0.000:0.006:0.290:0.297:0.348:0.421:0.425:0.401:0.003:0.001:0.000:0.483:0.499:0.498:0.617:0.612:0.913:0.981 superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 85 0 0 60 10 14.2857 PTEN 0 genome.wustl.edu 37 10 89717665 89717666 + Frame_Shift_Ins INS - - C TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 10 89717665 89717666 - C INS PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_ins c.690_691 p.T231fs 0.991:1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 187 0 0 46 24 34.2857 MUC6 0 genome.wustl.edu 37 11 1016973 1016974 + Frame_Shift_Del DEL GT GT - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 11 1016973 1016974 GT - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.5828_5827 p.T1943fs 0.001:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 1727 0 0 492 43 8.03738 NF1 0 genome.wustl.edu 37 17 29509580 29509580 + Frame_Shift_Del DEL G G - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 29509580 29509580 G - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_del c.785 p.R262fs 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 45 0 0 15 16 51.6129 PPP1R9B 0 genome.wustl.edu 37 17 48212917 48212918 + Frame_Shift_Del DEL CC CC - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 17 48212917 48212918 CC - DEL PPP1R9B ENST00000316878 human ensembl 74_37 -1 known frame_shift_del c.2395_2394 p.K798fs 1.000:1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PPP1R9B HGNC ENSG00000108819 28 0 0 9 5 35.7143 KIAA1841 0 genome.wustl.edu 37 2 61324903 61324913 + Frame_Shift_Del DEL AAGTTCATTGA AAGTTCATTGA - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 AAGTTCATTGA AAGTTCATTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 2 61324903 61324913 AAGTTCATTGA - DEL KIAA1841 ENST00000356719 human ensembl 74_37 +1 known frame_shift_del c.1281_1291 p.S428fs 0.007:0.006:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.008 pfam_DUF3342 pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 160 0 0 79 54 40.6015 NCAM2 0 genome.wustl.edu 37 21 22664463 22664463 + Frame_Shift_Del DEL T T - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 21 22664463 22664463 T - DEL NCAM2 ENST00000400546 human ensembl 74_37 +1 known frame_shift_del c.521 p.L174fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 128 0 0 57 23 28.75 ILDR1 0 genome.wustl.edu 37 3 121712708 121712711 + Frame_Shift_Del DEL GAGG GAGG - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 GAGG GAGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 3 121712708 121712711 GAGG - DEL ILDR1 ENST00000344209 human ensembl 74_37 -1 known frame_shift_del c.888_885 p.N295fs 1.000:1.000:0.997:0.997 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 123 0 0 27 3 10 APC 0 genome.wustl.edu 37 5 112175646 112175647 + Frame_Shift_Ins INS - - GG TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 5 112175646 112175647 - GG INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.4355_4356 p.P1453fs 0.369:0.313 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 143 0 0 37 8 17.7778 NUPL2 0 genome.wustl.edu 37 7 23226692 23226692 + Frame_Shift_Del DEL G G - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 7 23226692 23226692 G - DEL NUPL2 ENST00000258742 human ensembl 74_37 +1 known frame_shift_del c.372 p.E125fs 1.000 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 208 0 0 82 25 23.3645 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-FP-8211-01A-11D-2340-08 TCGA-FP-8211-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 479cf699-65e0-4a01-8183-314eb85c1b45 14408e43-3d4b-4db1-9d2f-22924b798223 Y 10037863 10037863 C - DEL RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 49 0 0 18 3 14.2857