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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AIM1L 0 genome.wustl.edu 37 1 26669642 26669642 + Missense_Mutation SNP G G T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 1 26669642 26669642 G T SNP AIM1L ENST00000527815 human ensembl 69_37n -1 known missense c.348 p.F116L 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 54 0 0.00 17 9 34.62 - - - ANKZF1 0 genome.wustl.edu 37 2 220099673 220099673 + Missense_Mutation SNP A A G TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 2 220099673 220099673 A G SNP ANKZF1 ENST00000323348 human ensembl 69_37n +1 known missense c.1330 p.K444E 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKZF1 HGNC ENSG00000163516 83 0 0.00 32 11 25.58 - - - BCL11B 0 genome.wustl.edu 37 14 99641544 99641546 + In_Frame_Del DEL CTC CTC - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 14 99641544 99641546 CTC - DEL BCL11B ENST00000357195 human ensembl 69_37n -1 known in_frame_del c.1629_1627 p.E543in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 10 0 0.00 4 2 33.33 - - - C19orf47 0 genome.wustl.edu 37 19 40827096 40827096 + RNA SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 19 40827096 40827096 C T SNP C19orf47 ENST00000584868 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C19orf47 HGNC ENSG00000160392 38 0 0.00 17 3 15.00 - - - C2CD3 0 genome.wustl.edu 37 11 73850818 73850818 + Missense_Mutation SNP G G C TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 73850818 73850818 G C SNP C2CD3 ENST00000334126 human ensembl 69_37n -1 known missense c.539 p.P180R 0.997 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 87 0 0.00 70 35 33.33 - - - CAMK2G 0 genome.wustl.edu 37 10 75608353 75608353 + Missense_Mutation SNP G G T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 10 75608353 75608353 G T SNP CAMK2G ENST00000423381 human ensembl 69_37n -1 known missense c.532 p.P178T 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2G HGNC ENSG00000148660 40 0 0.00 16 8 33.33 - - - CHRNG 0 genome.wustl.edu 37 2 233404776 233404776 + Missense_Mutation SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 2 233404776 233404776 G A SNP CHRNG ENST00000389494 human ensembl 69_37n +1 known missense c.130 p.A44T 0.854 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 51 0 0.00 21 5 19.23 - - - COL5A1 0 genome.wustl.edu 37 9 137593087 137593087 + Missense_Mutation SNP A A G TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 9 137593087 137593087 A G SNP COL5A1 ENST00000371817 human ensembl 69_37n +1 known missense c.562 p.T188A 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 74 0 0.00 55 7 11.29 - - - DYRK3 0 genome.wustl.edu 37 1 206821748 206821748 + Missense_Mutation SNP T T G TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 1 206821748 206821748 T G SNP DYRK3 ENST00000367109 human ensembl 69_37n +1 known missense c.1205 p.L402R 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DYRK3 HGNC ENSG00000143479 44 0 0.00 22 19 46.34 - - - EMC7 0 genome.wustl.edu 37 15 34393857 34393857 + Missense_Mutation SNP T T C TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 15 34393857 34393857 T C SNP EMC7 ENST00000256545 human ensembl 69_37n -1 known missense c.184 p.I62V 1.000 pfam_DUF2012,superfamily_Carb-bd-like_fold pfam_DUF2012,superfamily_Carb-bd-like_fold - no_errors EMC7 HGNC ENSG00000134153 54 0 0.00 18 12 40.00 - - - FAM123B 0 genome.wustl.edu 37 X 63412663 63412663 + Silent SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde X 63412663 63412663 G A SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known silent c.504 p.G168 0.982 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 117 0 0.00 35 11 23.91 - - - FILIP1 0 genome.wustl.edu 37 6 76063403 76063403 + Missense_Mutation SNP T T A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 6 76063403 76063403 T A SNP FILIP1 ENST00000237172 human ensembl 69_37n -1 known missense c.481 p.T161S 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 69 0 0.00 15 26 63.41 - - - GABRR3 0 genome.wustl.edu 37 3 97705686 97705686 + Frame_Shift_Del DEL G G - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 3 97705686 97705686 G - DEL GABRR3 ENST00000472788 human ensembl 69_37n -1 known frame_shift_del c.1245 p.S416fs 0.985 NULL NULL - pseudogene GABRR3 HGNC ENSG00000183185 67 0 0.00 20 27 56.25 - - - GGT3P 0 genome.wustl.edu 37 22 18762636 18762636 + RNA SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 22 18762636 18762636 G A SNP GGT3P ENST00000412448 human ensembl 69_37n -1 known rna NULL NULL 0.088 - - - no_errors GGT3P HGNC ENSG00000197421 13 0 0.00 0 3 100.00 - - - HERC2 0 genome.wustl.edu 37 15 28501279 28501279 + Missense_Mutation SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 15 28501279 28501279 G A SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known missense c.2702 p.A901V 0.996 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 80 0 0.00 32 13 28.89 - - - HSPA5 0 genome.wustl.edu 37 9 128002548 128002548 + Missense_Mutation SNP A A G TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 9 128002548 128002548 A G SNP HSPA5 ENST00000324460 human ensembl 69_37n -1 known missense c.395 p.I132T 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 65 0 0.00 18 28 60.87 - - - HSPA8 0 genome.wustl.edu 37 11 122929479 122929479 + Silent SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 122929479 122929479 G A SNP HSPA8 ENST00000534624 human ensembl 69_37n -1 known silent c.1383 p.L461 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 102 0 0.00 8 24 75.00 - - - IL13RA2 0 genome.wustl.edu 37 X 114239780 114239780 + Missense_Mutation SNP G G T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde X 114239780 114239780 G T SNP IL13RA2 ENST00000243213 human ensembl 69_37n -1 known missense c.1096 p.P366T 0.000 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 88 0 0.00 34 12 26.09 - - - IZUMO3 0 genome.wustl.edu 37 9 24543688 24543688 + Missense_Mutation SNP A A G TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 9 24543688 24543688 A G SNP IZUMO3 ENST00000412335 human ensembl 69_37n -1 putative missense c.352 p.C118R 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IZUMO3 HGNC ENSG00000205442 58 0 0.00 2 11 84.62 - - - KIF27 0 genome.wustl.edu 37 9 86518580 86518580 + Missense_Mutation SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 9 86518580 86518580 G A SNP KIF27 ENST00000297814 human ensembl 69_37n -1 known missense c.853 p.R285C 0.992 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 61 0 0.00 22 3 12.00 - - - KLF15 0 genome.wustl.edu 37 3 126071710 126071710 + Missense_Mutation SNP A A G TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 3 126071710 126071710 A G SNP KLF15 ENST00000296233 human ensembl 69_37n -1 known missense c.56 p.V19A 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 42 0 0.00 8 6 42.86 - - - LRRC4C 0 genome.wustl.edu 37 11 40136396 40136396 + Missense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 40136396 40136396 C T SNP LRRC4C ENST00000527150 human ensembl 69_37n -1 known missense c.1447 p.D483N 0.935 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors LRRC4C HGNC ENSG00000148948 188 0 0.00 84 17 16.83 - - - MYO1H 0 genome.wustl.edu 37 12 109879456 109879456 + Missense_Mutation SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 12 109879456 109879456 G A SNP MYO1H ENST00000431443 human ensembl 69_37n +1 known missense c.2557 p.G853R 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 37 0 0.00 29 11 27.50 - - - NAALAD2 0 genome.wustl.edu 37 11 89885543 89885543 + Frame_Shift_Del DEL A A - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 89885543 89885543 A - DEL NAALAD2 ENST00000534061 human ensembl 69_37n +1 known frame_shift_del c.687 p.Q230fs 0.997 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 56 0 0.00 14 2 12.50 - - - NCAPD3 0 genome.wustl.edu 37 11 134055270 134055270 + Frame_Shift_Del DEL C C - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 134055270 134055270 C - DEL NCAPD3 ENST00000534548 human ensembl 69_37n -1 known frame_shift_del c.2197 p.D733fs 1.000 superfamily_ARM-type_fold,pirsf_Condns_HCP-6 superfamily_ARM-type_fold,pirsf_Condns_HCP-6 - no_errors NCAPD3 HGNC ENSG00000151503 74 0 0.00 13 2 13.33 - - - ODZ2 0 genome.wustl.edu 37 5 167589717 167589717 + Missense_Mutation SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 5 167589717 167589717 G A SNP ODZ2 ENST00000518659 human ensembl 69_37n +1 known missense c.2524 p.V842I 1.000 superfamily_ConA-like_lec_gl pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ2 HGNC ENSG00000145934 48 0 0.00 37 10 21.28 - - - OR4K5 0 genome.wustl.edu 37 14 20389502 20389502 + Missense_Mutation SNP T T C TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 14 20389502 20389502 T C SNP OR4K5 ENST00000315915 human ensembl 69_37n +1 known missense c.737 p.V246A 0.702 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4K5 HGNC ENSG00000176281 131 0 0.00 90 17 15.89 - - - PAWR 0 genome.wustl.edu 37 12 80083615 80083615 + Missense_Mutation SNP C C G TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 12 80083615 80083615 C G SNP PAWR ENST00000328827 human ensembl 69_37n -1 known missense c.410 p.G137A 1.000 NULL NULL - no_errors PAWR HGNC ENSG00000177425 31 0 0.00 23 4 14.81 - - - PCBP4 0 genome.wustl.edu 37 3 51993955 51993956 + Frame_Shift_Del DEL CA CA - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 3 51993955 51993956 CA - DEL PCBP4 ENST00000395014 human ensembl 69_37n -1 known frame_shift_del c.535_534 p.A179fs 0.952:0.452 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP4 HGNC ENSG00000090097 57 0 0.00 17 2 10.53 - - - PCDHA2 0 genome.wustl.edu 37 5 140176412 140176412 + Silent SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 5 140176412 140176412 G A SNP PCDHA2 ENST00000526136 human ensembl 69_37n +1 known silent c.1863 p.P621 0.404 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 184 0 0.00 115 14 10.85 - - - PCDHB5 0 genome.wustl.edu 37 5 140516842 140516842 + Missense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 5 140516842 140516842 C T SNP PCDHB5 ENST00000231134 human ensembl 69_37n +1 known missense c.1826 p.T609M 0.991 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 218 0 0.00 99 43 30.28 - - - PDZD2 0 genome.wustl.edu 37 5 32074112 32074112 + Missense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 5 32074112 32074112 C T SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known missense c.2900 p.A967V 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 41 0 0.00 14 4 22.22 - - - PEX7 0 genome.wustl.edu 37 6 137191068 137191068 + Missense_Mutation SNP G G T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 6 137191068 137191068 G T SNP PEX7 ENST00000318471 human ensembl 69_37n +1 known missense c.674 p.G225V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PEX7 HGNC ENSG00000112357 111 0 0.00 39 13 25.00 - - - PHIP 0 genome.wustl.edu 37 6 79698009 79698009 + Frame_Shift_Del DEL G G - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 6 79698009 79698009 G - DEL PHIP ENST00000275034 human ensembl 69_37n -1 known frame_shift_del c.2377 p.Q793fs 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 87 0 0.00 43 9 16.98 - - - PHIP 0 genome.wustl.edu 37 6 79698011 79698011 + Missense_Mutation SNP T T A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 6 79698011 79698011 T A SNP PHIP ENST00000275034 human ensembl 69_37n -1 known missense c.2375 p.N792I 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 87 0 0.00 41 10 19.61 - - - PI4KAP2 0 genome.wustl.edu 37 22 21841928 21841928 + RNA SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 22 21841928 21841928 G A SNP PI4KAP2 ENST00000450651 human ensembl 69_37n -1 known rna NULL NULL 0.912 - - - no_errors PI4KAP2 HGNC ENSG00000183506 30 0 0.00 4 8 66.67 - - - PLEKHB1 0 genome.wustl.edu 37 11 73364048 73364048 + Missense_Mutation SNP A A C TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 73364048 73364048 A C SNP PLEKHB1 ENST00000354190 human ensembl 69_37n +1 known missense c.379 p.N127H 0.644 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB1 HGNC ENSG00000021300 35 0 0.00 16 4 20.00 - - - PNMA1 0 genome.wustl.edu 37 14 74179692 74179692 + Frame_Shift_Del DEL A A - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 14 74179692 74179692 A - DEL PNMA1 ENST00000316836 human ensembl 69_37n -1 known frame_shift_del c.651 p.K218fs 1.000 NULL superfamily_Globin-like - no_errors PNMA1 HGNC ENSG00000176903 97 0 0.00 12 2 14.29 - - - POLQ 0 genome.wustl.edu 37 3 121202430 121202430 + Splice_Site DEL C C - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 3 121202430 121202430 C - DEL POLQ ENST00000264233 human ensembl 69_37n -1 known splice_site_del c.5774-1 e18-1 1.000 - - - no_errors POLQ HGNC ENSG00000051341 10 0 0.00 6 3 33.33 - - - PPIL2 0 genome.wustl.edu 37 22 22036753 22036753 + Frame_Shift_Del DEL A A - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 22 22036753 22036753 A - DEL PPIL2 ENST00000412327 human ensembl 69_37n +1 known frame_shift_del c.415 p.K139fs 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_Ubox_domain,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC ENSG00000100023 44 0 0.00 13 2 13.33 - - - PRELID2 0 genome.wustl.edu 37 5 145214806 145214806 + Silent SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 5 145214806 145214806 G A SNP PRELID2 ENST00000334744 human ensembl 69_37n -1 known silent c.9 p.V3 1.000 pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 - no_errors PRELID2 HGNC ENSG00000186314 57 0 0.00 28 6 17.65 - - - RAB6A 0 genome.wustl.edu 37 11 73390734 73390734 + Missense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 73390734 73390734 C T SNP RAB6A ENST00000310653 human ensembl 69_37n -1 known missense c.527 p.G176E 1.000 smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC ENSG00000175582 115 0 0.00 84 28 25.00 - - - RAB6A 0 genome.wustl.edu 37 11 73390735 73390735 + Missense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 73390735 73390735 C T SNP RAB6A ENST00000310653 human ensembl 69_37n -1 known missense c.526 p.G176R 1.000 smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC ENSG00000175582 116 0 0.00 83 29 25.89 - - - RAB6A 0 genome.wustl.edu 37 11 73390744 73390744 + Missense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 73390744 73390744 C T SNP RAB6A ENST00000310653 human ensembl 69_37n -1 known missense c.517 p.A173T 1.000 pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC ENSG00000175582 115 0 0.00 82 27 24.77 - - - SEMA3G 0 genome.wustl.edu 37 3 52473711 52473711 + Missense_Mutation SNP C C G TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 3 52473711 52473711 C G SNP SEMA3G ENST00000231721 human ensembl 69_37n -1 known missense c.1452 p.E484D 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3G HGNC ENSG00000010319 47 0 0.00 9 6 40.00 - - - SF3B1 0 genome.wustl.edu 37 2 198266834 198266834 + Missense_Mutation SNP T T C TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 2 198266834 198266834 T C SNP SF3B1 ENST00000335508 human ensembl 69_37n -1 known missense c.2098 p.K700E 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 43 0 0.00 19 3 13.64 - - - SOGA1 0 genome.wustl.edu 37 20 35431404 35431404 + Missense_Mutation SNP T T C TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 20 35431404 35431404 T C SNP SOGA1 ENST00000357779 human ensembl 69_37n -1 known missense c.2480 p.Y827C 1.000 NULL pfam_DUF3166 - no_errors SOGA1 HGNC ENSG00000149639 41 0 0.00 18 10 35.71 - - - SUSD1 0 genome.wustl.edu 37 9 114874096 114874096 + Nonsense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 9 114874096 114874096 C T SNP SUSD1 ENST00000415074 human ensembl 69_37n -1 novel nonsense c.450 p.W150* 0.009 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SUSD1 HGNC ENSG00000106868 57 0 0.00 40 15 27.27 - - - UBE4A 0 genome.wustl.edu 37 11 118239438 118239438 + Missense_Mutation SNP T T A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 118239438 118239438 T A SNP UBE4A ENST00000431736 human ensembl 69_37n +1 known missense c.214 p.F72I 0.998 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 53 0 0.00 5 8 61.54 - - - UGGT2 0 genome.wustl.edu 37 13 96684189 96684189 + Nonsense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 13 96684189 96684189 C T SNP UGGT2 ENST00000376747 human ensembl 69_37n -1 known nonsense c.195 p.W65* 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 22 0 0.00 7 3 30.00 - - - USH1C 0 genome.wustl.edu 37 11 17547981 17547981 + Missense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 11 17547981 17547981 C T SNP USH1C ENST00000005226 human ensembl 69_37n -1 known missense c.587 p.R196Q 0.515 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 50 0 0.00 7 15 68.18 - - - VN1R4 0 genome.wustl.edu 37 19 53770436 53770436 + Silent SNP G G A TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 19 53770436 53770436 G A SNP VN1R4 ENST00000311170 human ensembl 69_37n -1 known silent c.483 p.N161 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Vmron_rcpt_1 - no_errors VN1R4 HGNC ENSG00000228567 217 0 0.00 65 38 36.89 - - - VPS41 0 genome.wustl.edu 37 7 38908841 38908841 + Missense_Mutation SNP C C T TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 7 38908841 38908841 C T SNP VPS41 ENST00000310301 human ensembl 69_37n -1 known missense c.73 p.E25K 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 53 0 0.00 24 13 35.14 - - - VSIG8 0 genome.wustl.edu 37 1 159826348 159826348 + Silent SNP G G C TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 1 159826348 159826348 G C SNP VSIG8 ENST00000368100 human ensembl 69_37n -1 known silent c.738 p.G246 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG8 HGNC ENSG00000243284 116 0 0.00 55 9 14.06 - - - ZNF397 0 genome.wustl.edu 37 18 32822883 32822883 + Frame_Shift_Del DEL T T - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx da5821cd-8653-41e5-b2ee-d60e2e541f2f fd447987-24d9-46ec-8f43-5525d8f42fde 18 32822883 32822883 T - DEL ZNF397 ENST00000588119 human ensembl 69_37n +1 putative frame_shift_del c.447 p.L150fs 0.002 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF397 HGNC ENSG00000186812 11 0 0.00 4 2 33.33 - - -