Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val TTN 0 genome.wustl.edu 37 2 179427807 179427807 + Silent SNP C C T TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 2 179427807 179427807 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.75348 p.V25116 0.295 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 57 0 0.00 20 34 62.96 77 0 0.00 27 28 50.91 ASXL2 0 genome.wustl.edu 37 2 25966165 25966165 + Missense_Mutation SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 2 25966165 25966165 G A SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known missense c.3041 p.P1014L 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 tier1 - - 71 0 0.00 36 35 49.30 99 0 0.00 33 30 47.62 ZNF592 0 genome.wustl.edu 37 15 85327731 85327731 + Missense_Mutation SNP C C T TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 15 85327731 85327731 C T SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.1825 p.R609W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 tier1 - - 20 0 0.00 11 9 45.00 59 0 0.00 21 15 41.67 SLC35A5 0 genome.wustl.edu 37 3 112300122 112300122 + Missense_Mutation SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 3 112300122 112300122 G A SNP SLC35A5 ENST00000261034 human ensembl 74_37 +1 known missense c.686 p.G229D 0.792 NULL pfam_Nuc_sug_transpt,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35A5 HGNC ENSG00000138459 tier1 - - 48 0 0.00 27 20 42.55 135 0 0.00 48 39 44.83 VPS13A 0 genome.wustl.edu 37 9 79891096 79891096 + Missense_Mutation SNP C C A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 9 79891096 79891096 C A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.2783 p.A928D 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 193 0 0.00 108 87 44.62 119 0 0.00 44 29 39.73 CNGA3 0 genome.wustl.edu 37 2 99012444 99012444 + Missense_Mutation SNP C C A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 2 99012444 99012444 C A SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.811 p.P271T 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 tier1 - - 55 0 0.00 29 27 48.21 131 0 0.00 48 46 48.42 DDI1 0 genome.wustl.edu 37 11 103908420 103908420 + Silent SNP T T C TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 11 103908420 103908420 T C SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known silent c.870 p.A290 0.928 pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 tier1 - - 22 0 0.00 16 11 40.74 61 0 0.00 24 18 42.86 KIF21A 0 genome.wustl.edu 37 12 39727019 39727019 + Missense_Mutation SNP C C T TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 12 39727019 39727019 C T SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.2482 p.E828K 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 - - 74 0 0.00 405 375 48.08 93 1 1.05 526 466 46.98 USP20 0 genome.wustl.edu 37 9 132637674 132637674 + Missense_Mutation SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 9 132637674 132637674 G A SNP USP20 ENST00000315480 human ensembl 74_37 +1 known missense c.2134 p.V712M 1.000 smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP20 HGNC ENSG00000136878 tier1 - - 69 0 0.00 22 22 50.00 63 0 0.00 21 13 38.24 MAGEC3 0 genome.wustl.edu 37 X 140983153 140983153 + Silent SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 X 140983153 140983153 G A SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known silent c.1008 p.R336 0.006 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 84 0 0.00 32 35 52.24 66 0 0.00 41 37 47.44 ENPP5 0 genome.wustl.edu 37 6 46135503 46135503 + Missense_Mutation SNP C C G TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 6 46135503 46135503 C G SNP ENPP5 ENST00000230565 human ensembl 74_37 -1 known missense c.497 p.R166T 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 tier1 - - 32 0 0.00 21 13 38.24 76 0 0.00 28 18 39.13 C6 0 genome.wustl.edu 37 5 41195968 41195968 + Missense_Mutation SNP C C G TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 5 41195968 41195968 C G SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.513 p.R171S 0.622 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 tier1 - - 78 0 0.00 41 36 46.75 97 0 0.00 50 26 34.21 COL5A3 0 genome.wustl.edu 37 19 10089586 10089586 + Missense_Mutation SNP T T C TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 19 10089586 10089586 T C SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.2945 p.K982R 0.906 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 83 0 0.00 45 45 50.00 55 0 0.00 24 17 38.64 LRRC8B 0 genome.wustl.edu 37 1 90050305 90050305 + Missense_Mutation SNP A A C TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 1 90050305 90050305 A C SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.2096 p.Q699P 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 tier1 - - 13 0 0.00 15 6 28.57 50 1 1.96 21 13 38.24 NUTM2B 0 genome.wustl.edu 37 10 81471859 81471859 + Nonsense_Mutation SNP C C A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 10 81471859 81471859 C A SNP NUTM2B ENST00000429828 human ensembl 74_37 +1 known nonsense c.2255 p.S752* 0.006 NULL NULL - no_errors NUTM2B HGNC ENSG00000188199 tier1 - - 142 0 0.00 112 22 16.42 35 0 0.00 21 7 25.00 DDB2 0 genome.wustl.edu 37 11 47236754 47236754 + Missense_Mutation SNP A A G TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 11 47236754 47236754 A G SNP DDB2 ENST00000256996 human ensembl 74_37 +1 known missense c.67 p.R23G 0.979 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DDB2 HGNC ENSG00000134574 tier1 - - 54 0 0.00 29 26 47.27 76 0 0.00 25 20 43.48 SCNN1G 0 genome.wustl.edu 37 16 23200982 23200982 + Missense_Mutation SNP G G T TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 16 23200982 23200982 G T SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.608 p.G203V 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 tier1 - - 45 0 0.00 23 21 47.73 98 0 0.00 28 34 53.97 ANKRD18B 0 genome.wustl.edu 37 9 33566231 33566231 + Missense_Mutation SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 9 33566231 33566231 G A SNP ANKRD18B ENST00000290943 human ensembl 74_37 +1 known missense c.2289 p.M763I 0.054 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ENSG00000230453 tier1 - - 139 0 0.00 76 68 47.22 12 0 0.00 11 4 26.67 SLC4A4 0 genome.wustl.edu 37 4 72332163 72332163 + Silent SNP C C T TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 4 72332163 72332163 C T SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known silent c.1500 p.G500 0.754 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 tier1 - - 79 0 0.00 41 23 35.94 52 0 0.00 26 28 51.85 GPR101 0 genome.wustl.edu 37 X 136113605 136113605 + Missense_Mutation SNP C C A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 X 136113605 136113605 C A SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.229 p.D77Y 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 tier1 - - 53 0 0.00 35 23 39.66 70 0 0.00 26 18 40.91 GLCCI1 0 genome.wustl.edu 37 7 8099754 8099754 + Missense_Mutation SNP C C A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 7 8099754 8099754 C A SNP GLCCI1 ENST00000223145 human ensembl 74_37 +1 known missense c.842 p.P281Q 1.000 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 tier1 - - 92 0 0.00 78 56 41.79 73 0 0.00 24 21 46.67 PCDH7 0 genome.wustl.edu 37 4 30725638 30725638 + Missense_Mutation SNP T T C TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 4 30725638 30725638 T C SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.2594 p.I865T 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 tier1 - - 37 0 0.00 24 17 41.46 77 0 0.00 51 35 40.70 PDE3B 0 genome.wustl.edu 37 11 14891166 14891166 + Missense_Mutation SNP A A C TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 11 14891166 14891166 A C SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.3299 p.D1100A 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 tier1 - - 63 0 0.00 29 34 53.97 72 0 0.00 30 26 46.43 GLCCI1 0 genome.wustl.edu 37 7 8099753 8099753 + Missense_Mutation SNP C C A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 7 8099753 8099753 C A SNP GLCCI1 ENST00000223145 human ensembl 74_37 +1 known missense c.841 p.P281T 1.000 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 tier1 - - 91 0 0.00 77 54 41.22 73 0 0.00 24 21 46.67 DYNC2H1 0 genome.wustl.edu 37 11 103025517 103025517 + Silent SNP A A G TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 11 103025517 103025517 A G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.3552 p.Q1184 0.995 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 84 0 0.00 59 50 45.87 92 0 0.00 50 27 35.06 ADAM21P1 0 genome.wustl.edu 37 14 70713492 70713492 + R SNP G G T TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 14 70713492 70713492 G T SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.369 - - - no_errors ADAM21P1 HGNC ENSG00000235812 tier1 - - 76 0 0.00 57 31 35.23 74 0 0.00 24 27 52.94 PCDHA6 0 genome.wustl.edu 37 5 140208442 140208442 + Missense_Mutation SNP G G C TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 5 140208442 140208442 G C SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.766 p.D256H 0.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 92 0 0.00 58 46 43.81 85 0 0.00 33 27 45.00 TSPAN19 0 genome.wustl.edu 37 12 85409741 85409741 + Missense_Mutation SNP T T A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 12 85409741 85409741 T A SNP TSPAN19 ENST00000532498 human ensembl 74_37 -1 known missense c.604 p.N202Y 0.449 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN19 HGNC ENSG00000231738 tier1 - - 102 0 0.00 1361 409 23.09 93 0 0.00 1169 336 22.30 CCDC68 0 genome.wustl.edu 37 18 52604167 52604167 + Missense_Mutation SNP C C T TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 18 52604167 52604167 C T SNP CCDC68 ENST00000337363 human ensembl 74_37 -1 known missense c.368 p.G123E 1.000 NULL superfamily_Prefoldin - no_errors CCDC68 HGNC ENSG00000166510 tier1 - - 59 0 0.00 40 31 43.66 42 0 0.00 15 22 59.46 DDX27 0 genome.wustl.edu 37 20 47852789 47852789 + R SNP T T G TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 20 47852789 47852789 T G SNP DDX27 ENST00000471144 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors DDX27 HGNC ENSG00000124228 tier1 - - 69 0 0.00 32 32 50.00 114 0 0.00 45 33 42.31 TMEM217 0 genome.wustl.edu 37 6 37186252 37186252 + Silent SNP C C A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 6 37186252 37186252 C A SNP TMEM217 ENST00000336655 human ensembl 74_37 -1 known silent c.555 p.S185 0.001 NULL NULL - no_errors TMEM217 HGNC ENSG00000172738 tier1 - - 40 0 0.00 24 29 54.72 26 0 0.00 10 9 47.37 DCLRE1A 0 genome.wustl.edu 37 10 115608781 115608796 + Frame_Shift_Del DEL CTCCTACATTAGATGA CTCCTACATTAGATGA - TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 CTCCTACATTAGATGA CTCCTACATTAGATGA CTCCTACATTAGATGA - CTCCTACATTAGATGA CTCCTACATTAGATGA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 10 115608781 115608796 CTCCTACATTAGATGA - DEL DCLRE1A ENST00000361384 human ensembl 74_37 -1 known frame_shift_del c.2083_2068 p.S690fs 0.633:0.630:0.691:0.807:0.800:0.633:0.529:0.443:0.034:0.005:0.003:0.001:0.000:0.006:0.095:0.131 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 tier1 70 0 0.00 35 5 12.50 70 0 0.00 35 5 12.50 ITPR1 0 genome.wustl.edu 37 3 4853082 4853082 + Frame_Shift_Del DEL T T - TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 3 4853082 4853082 T - DEL ITPR1 ENST00000302640 human ensembl 74_37 +1 known frame_shift_del c.7361 p.F2455fs 0.999 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 92 0 0.00 59 41 41.00 98 0 0.00 60 27 31.03 HR 0 genome.wustl.edu 37 8 21977962 21977965 + Frame_Shift_Del DEL GCTT GCTT - TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 GCTT GCTT GCTT - GCTT GCTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 8 21977962 21977965 GCTT - DEL HR ENST00000381418 human ensembl 74_37 -1 known frame_shift_del c.2669_2666 p.E889fs 0.757:0.809:0.811:0.884 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 tier1 38 0 0.00 18 12 40.00 48 0 0.00 20 11 35.48 EXOSC8 0 genome.wustl.edu 37 13 37580294 37580294 + Frame_Shift_Del DEL A A - TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 13 37580294 37580294 A - DEL EXOSC8 ENST00000389704 human ensembl 74_37 +1 known frame_shift_del c.387 p.K130fs 0.870 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC8 HGNC ENSG00000120699 tier1 107 0 0.00 55 39 41.49 53 0 0.00 39 25 39.06 ENSG00000261351 0 genome.wustl.edu 37 15 66784398 66784398 + R DEL A A - TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 15 66784398 66784398 A - DEL ENSG00000261351 ENST00000565387 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CTD-3185P2.1 Clone_based_vega_gene ENSG00000261351 tier1 66 0 0.00 25 19 43.18 121 0 0.00 40 42 51.22 R3HDM1 0 genome.wustl.edu 37 2 136437847 136437860 + Frame_Shift_Del DEL GCCTGTTTACTATA GCCTGTTTACTATA - TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 GCCTGTTTACTATA GCCTGTTTACTATA GCCTGTTTACTATA - GCCTGTTTACTATA GCCTGTTTACTATA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 2 136437847 136437860 GCCTGTTTACTATA - DEL R3HDM1 ENST00000264160 human ensembl 74_37 +1 known frame_shift_del c.2307_2320 p.P770fs 1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 tier1 99 0 0.00 45 10 18.18 99 0 0.00 45 10 18.18 CALCR 0 genome.wustl.edu 37 7 93055785 93055785 + Silent SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 7 93055785 93055785 G A SNP CALCR ENST00000359558 human ensembl 74_37 -1 known silent c.1410 p.G470 0.000 prints_GPCR_2_calcitonin_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCR HGNC ENSG00000004948 tier1 - - 35 0 0.00 25 23 47.92 27 0 0.00 7 5 41.67 COL4A3 0 genome.wustl.edu 37 2 228122337 228122337 + Missense_Mutation SNP G G T TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 2 228122337 228122337 G T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.1006 p.G336C 0.988 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 109 0 0.00 6 50 89.29 104 0 0.00 3 37 92.50 ESYT1 0 genome.wustl.edu 37 12 56522182 56522182 + Frame_Shift_Del DEL C C - TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 12 56522182 56522182 C - DEL ESYT1 ENST00000267113 human ensembl 74_37 +1 known frame_shift_del c.79 p.A29fs 0.130 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 tier1 80 0 0.00 42 27 39.13 14 0 0.00 5 5 50.00 ESYT1 0 genome.wustl.edu 37 12 56522184 56522184 + Silent SNP C C G TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 12 56522184 56522184 C G SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known silent c.81 p.P27 0.807 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 tier1 - - 76 0 0.00 40 27 40.30 14 0 0.00 3 5 62.50 FEZF2 0 genome.wustl.edu 37 3 62358026 62358026 + Missense_Mutation SNP T T C TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 3 62358026 62358026 T C SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known missense c.518 p.N173S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 tier1 - - 44 0 0.00 20 11 35.48 30 0 0.00 7 11 61.11 GAB4 0 genome.wustl.edu 37 22 17447244 17447244 + Missense_Mutation SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 22 17447244 17447244 G A SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.1034 p.T345M 0.233 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 tier1 - - 39 0 0.00 0 11 100.00 54 0 0.00 2 23 92.00 HPGD 0 genome.wustl.edu 37 4 175429244 175429244 + Missense_Mutation SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 4 175429244 175429244 G A SNP HPGD ENST00000504433 human ensembl 74_37 -1 putative missense c.512 p.A171V 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR - no_errors HPGD HGNC ENSG00000164120 tier1 - - 124 0 0.00 5 49 90.74 46 0 0.00 1 6 85.71 LBP 0 genome.wustl.edu 37 20 36977952 36977952 + Frame_Shift_Del DEL G G - TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 20 36977952 36977952 G - DEL LBP ENST00000217407 human ensembl 74_37 +1 known frame_shift_del c.126 p.A43fs 0.870 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors LBP HGNC ENSG00000129988 tier1 9 0 0.00 5 4 44.44 21 0 0.00 5 2 28.57 STYK1 0 genome.wustl.edu 37 12 10772806 10772806 + Missense_Mutation SNP T T G TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 12 10772806 10772806 T G SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.1206 p.E402D 0.642 superfamily_Kinase-like_dom 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 tier1 - - 18 0 0.00 2 16 88.89 60 0 0.00 2 32 94.12 XKR8 0 genome.wustl.edu 37 1 28293381 28293381 + Silent SNP C C A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 1 28293381 28293381 C A SNP XKR8 ENST00000373884 human ensembl 74_37 +1 known silent c.858 p.I286 0.999 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR8 HGNC ENSG00000158156 tier1 - - 55 0 0.00 24 28 53.85 22 0 0.00 6 3 33.33 ZBTB7A 0 genome.wustl.edu 37 19 4048115 4048115 + Missense_Mutation SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 19 4048115 4048115 G A SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known missense c.1390 p.R464C 1.000 pfscan_Znf_C2H2 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 ZBTB7A HGNC ENSG00000178951 tier1 - - 70 0 0.00 29 27 48.21 24 0 0.00 5 11 68.75 ENSG00000216166 0 genome.wustl.edu 37 3 183520323 183520324 + R INS - - TATATATATACACGTGTATATATATACACGTGTA TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 3 183520323 183520324 - TATATATATACACGTGTATATATATACACGTGTA INS ENSG00000216166 ENST00000401347 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000216166 tier1 9 0 0.00 6 0 0.00 9 0 0.00 6 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143210640 143210640 + R SNP C C T TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 1 143210640 143210640 C T SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 18 0 0.00 13 6 31.58 1 0 0.00 2 0 0.00 PGS1 0 genome.wustl.edu 37 17 76374748 76374749 + In_Frame_Ins INS - - GGCGGTGGC TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 17 76374748 76374749 - GGCGGTGGC INS PGS1 ENST00000262764 human ensembl 74_37 +1 known in_frame_ins c.2_3 p.5in_frame_insAVA 1.000:1.000 NULL pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase - no_errors PGS1 HGNC ENSG00000087157 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 TMEM194B 0 genome.wustl.edu 37 2 191379397 191379397 + Missense_Mutation SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 82d85c9a-bd66-46f7-b1c3-9554056923aa d6e07cf0-90ff-4c30-a9f5-733751378913 2 191379397 191379397 G A SNP TMEM194B ENST00000414176 human ensembl 74_37 -1 known missense c.413 p.S138F 0.000 NULL pfam_TMEM194 - no_errors TMEM194B HGNC ENSG00000189362 tier1 - - 67 0 0.00 46 32 41.03 72 0 0.00 36 3 7.69