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 ANKRD24 0 genome.wustl.edu 37 19 4212477 4212477 + Silent SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 19 4212477 4212477 G A SNP ANKRD24 ENST00000262970 human ensembl 69_37n +1 known silent c.1335 p.P445 0.017 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 368 0 0.00 290 52 15.20 - - - AP4E1 0 genome.wustl.edu 37 15 51223146 51223146 + Missense_Mutation SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 15 51223146 51223146 C T SNP AP4E1 ENST00000261842 human ensembl 69_37n +1 known missense c.847 p.L283F 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 169 0 0.00 84 30 26.32 - - - ATG2B 0 genome.wustl.edu 37 14 96773188 96773188 + Missense_Mutation SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 14 96773188 96773188 C T SNP ATG2B ENST00000359933 human ensembl 69_37n -1 known missense c.4369 p.E1457K 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 139 0 0.00 137 26 15.95 - - - ATP6V1B1 0 genome.wustl.edu 37 2 71170640 71170640 + Missense_Mutation SNP G G T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 2 71170640 71170640 G T SNP ATP6V1B1 ENST00000454446 human ensembl 69_37n +1 novel missense c.22 p.A8S 1.000 NULL pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_ATPase_F1/A1-cplx_a/bsu_N - no_stop_codon:bad_bp_length_for_coding_region ATP6V1B1 HGNC ENSG00000116039 57 0 0.00 25 38 60.32 - - - CFP 0 genome.wustl.edu 37 X 47485822 47485822 + Missense_Mutation SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b X 47485822 47485822 C T SNP CFP ENST00000247153 human ensembl 69_37n -1 known missense c.1037 p.R346H 0.467 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 179 0 0.00 121 19 13.57 - - - COG5 0 genome.wustl.edu 37 7 106898812 106898812 + Missense_Mutation SNP T T C TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 7 106898812 106898812 T C SNP COG5 ENST00000297135 human ensembl 69_37n -1 known missense c.1685 p.D562G 1.000 NULL pfam_COG_su5,pfam_Vps51 - no_errors COG5 HGNC ENSG00000164597 369 0 0.00 142 158 52.49 - - - COMP 0 genome.wustl.edu 37 19 18898318 18898318 + Missense_Mutation SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 19 18898318 18898318 C T SNP COMP ENST00000222271 human ensembl 69_37n -1 known missense c.1117 p.D373N 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 36 0 0.00 25 12 32.43 - - - CUL7 0 genome.wustl.edu 37 6 43005481 43005481 + Missense_Mutation SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 6 43005481 43005481 C T SNP CUL7 ENST00000535468 human ensembl 69_37n -1 known missense c.5294 p.R1765Q 0.931 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 158 0 0.00 114 18 13.53 - - - CYB5R2 0 genome.wustl.edu 37 11 7694105 7694105 + Silent SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 11 7694105 7694105 C T SNP CYB5R2 ENST00000524608 human ensembl 69_37n -1 putative silent c.132 p.L44 0.011 NULL pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase - no_stop_codon:bad_bp_length_for_coding_region CYB5R2 HGNC ENSG00000166394 115 0 0.00 52 31 37.35 - - - DMBT1 0 genome.wustl.edu 37 10 124377690 124377690 + Missense_Mutation SNP G G T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 10 124377690 124377690 G T SNP DMBT1 ENST00000368915 human ensembl 69_37n +1 known missense c.5049 p.W1683C 0.001 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 304 0 0.00 170 29 14.57 - - - DNAH10 0 genome.wustl.edu 37 12 124341720 124341720 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 12 124341720 124341720 G A SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.6202 p.V2068I 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 98 0 0.00 61 29 32.22 - - - DOCK1 0 genome.wustl.edu 37 10 128908590 128908590 + Silent SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 10 128908590 128908590 C T SNP DOCK1 ENST00000280333 human ensembl 69_37n +1 known silent c.2532 p.I844 0.991 superfamily_ARM-type_fold pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 178 0 0.00 76 11 12.64 - - - EPS15L1 0 genome.wustl.edu 37 19 16514562 16514562 + Silent SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 19 16514562 16514562 C T SNP EPS15L1 ENST00000455140 human ensembl 69_37n -1 known silent c.1608 p.T536 0.049 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 121 0 0.00 98 14 12.50 - - - EVPL 0 genome.wustl.edu 37 17 74004932 74004932 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 17 74004932 74004932 G A SNP EVPL ENST00000301607 human ensembl 69_37n -1 known missense c.4354 p.R1452W 0.963 NULL pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 91 0 0.00 56 72 55.38 - - - FAT3 0 genome.wustl.edu 37 11 92616055 92616055 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 11 92616055 92616055 G A SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.12433 p.A4145T 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 108 0 0.00 72 10 12.20 - - - GATA3 0 genome.wustl.edu 37 10 8111513 8111514 + Frame_Shift_Ins INS - - G TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 10 8111513 8111514 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1002_1003 p.D335fs 0.859:1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 158 0 0.00 254 84 24.85 - - - GPR114 0 genome.wustl.edu 37 16 57597859 57597859 + Missense_Mutation SNP T T A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 16 57597859 57597859 T A SNP GPR114 ENST00000340339 human ensembl 69_37n +1 known missense c.397 p.C133S 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 68 0 0.00 27 30 52.63 - - - GRSF1 0 genome.wustl.edu 37 4 71697363 71697363 + Nonstop_Mutation SNP C C A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 4 71697363 71697363 C A SNP GRSF1 ENST00000514161 human ensembl 69_37n -1 putative nonstop c.653 p.*218L 0.543 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GRSF1 HGNC ENSG00000132463 164 0 0.00 189 22 10.43 - - - HSPG2 0 genome.wustl.edu 37 1 22174253 22174253 + Missense_Mutation SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 1 22174253 22174253 C T SNP HSPG2 ENST00000374695 human ensembl 69_37n -1 known missense c.7954 p.V2652M 0.717 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 46 0 0.00 53 6 10.17 - - - ISL1 0 genome.wustl.edu 37 5 50689391 50689391 + Missense_Mutation SNP T T C TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 5 50689391 50689391 T C SNP ISL1 ENST00000230658 human ensembl 69_37n +1 known missense c.997 p.S333P 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL1 HGNC ENSG00000016082 309 0 0.00 159 37 18.88 - - - KIAA1211L 0 genome.wustl.edu 37 2 99438563 99438564 + Frame_Shift_Ins INS - - A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 2 99438563 99438564 - A INS KIAA1211L ENST00000397899 human ensembl 69_37n -1 known frame_shift_ins c.2173_2172 p.E724fs 0.064:0.004 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 16 0 0.00 9 18 66.67 - - - KRTAP19-6 0 genome.wustl.edu 37 21 31914098 31914098 + Missense_Mutation SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 21 31914098 31914098 C T SNP KRTAP19-6 ENST00000334046 human ensembl 69_37n -1 known missense c.55 p.G19S 0.000 pfam_KRTAP pfam_KRTAP - no_errors KRTAP19-6 HGNC ENSG00000186925 447 0 0.00 255 72 21.88 - - - LZTS1 0 genome.wustl.edu 37 8 20112587 20112587 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 8 20112587 20112587 G A SNP LZTS1 ENST00000265801 human ensembl 69_37n -1 known missense c.106 p.R36W 0.385 NULL pfam_Fez1 - no_errors LZTS1 HGNC ENSG00000061337 111 0 0.00 15 31 67.39 - - - MAST4 0 genome.wustl.edu 37 5 66438047 66438047 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 5 66438047 66438047 G A SNP MAST4 ENST00000404260 human ensembl 69_37n +1 known missense c.2608 p.D870N 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC ENSG00000069020 196 0 0.00 82 16 16.33 - - - MGAT4B 0 genome.wustl.edu 37 5 179225212 179225212 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 5 179225212 179225212 G A SNP MGAT4B ENST00000337755 human ensembl 69_37n -1 known missense c.1621 p.R541C 1.000 NULL pfam_Glyco_transf_54 - no_errors MGAT4B HGNC ENSG00000161013 13 0 0.00 14 10 41.67 - - - MYBBP1A 0 genome.wustl.edu 37 17 4448343 4448343 + Missense_Mutation SNP A A G TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 17 4448343 4448343 A G SNP MYBBP1A ENST00000381556 human ensembl 69_37n -1 known missense c.2288 p.V763A 1.000 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 49 0 0.00 26 13 33.33 - - - MYBPC2 0 genome.wustl.edu 37 19 50957393 50957393 + Missense_Mutation SNP C C A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 19 50957393 50957393 C A SNP MYBPC2 ENST00000357701 human ensembl 69_37n +1 known missense c.1866 p.N622K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 121 1 0.82 123 30 19.61 - - - N4BP2 0 genome.wustl.edu 37 4 40104400 40104400 + Missense_Mutation SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 4 40104400 40104400 C T SNP N4BP2 ENST00000261435 human ensembl 69_37n +1 known missense c.935 p.T312I 0.000 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 160 0 0.00 116 48 29.27 - - - NELL2 0 genome.wustl.edu 37 12 45105162 45105162 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 12 45105162 45105162 G A SNP NELL2 ENST00000437801 human ensembl 69_37n -1 known missense c.1252 p.L418F 1.000 NULL pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 195 0 0.00 173 22 11.28 - - - OPRM1 0 genome.wustl.edu 37 6 154412313 154412313 + Missense_Mutation SNP G G T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 6 154412313 154412313 G T SNP OPRM1 ENST00000524150 human ensembl 69_37n +1 known missense c.517 p.V173F 1.000 NULL prints_Mu_opioid_rcpt - no_errors OPRM1 HGNC ENSG00000112038 353 2 0.56 280 40 12.50 - - - OR5D18 0 genome.wustl.edu 37 11 55587367 55587367 + Missense_Mutation SNP G G T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 11 55587367 55587367 G T SNP OR5D18 ENST00000333976 human ensembl 69_37n +1 known missense c.262 p.V88F 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 716 0 0.00 318 73 18.67 - - - OR6C6 0 genome.wustl.edu 37 12 55688683 55688683 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 12 55688683 55688683 G A SNP OR6C6 ENST00000358433 human ensembl 69_37n -1 known missense c.334 p.L112F 0.670 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C6 HGNC ENSG00000188324 178 0 0.00 107 29 21.32 - - - OS9 0 genome.wustl.edu 37 12 58114298 58114298 + Silent SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 12 58114298 58114298 C T SNP OS9 ENST00000315970 human ensembl 69_37n +1 known silent c.1875 p.I625 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 190 0 0.00 282 37 11.60 - - - PGM1 0 genome.wustl.edu 37 1 64097433 64097433 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 1 64097433 64097433 G A SNP PGM1 ENST00000371083 human ensembl 69_37n +1 known missense c.716 p.R239H 1.000 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 99 0 0.00 83 42 33.60 - - - PSMD4 0 genome.wustl.edu 37 1 151239784 151239784 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 1 151239784 151239784 G A SNP PSMD4 ENST00000368884 human ensembl 69_37n +1 known missense c.1099 p.G367S 0.821 NULL pfam_Ubiquitin-int_motif,pfam_Ssl1-like,smart_VWF_A,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_VWF_A - no_errors PSMD4 HGNC ENSG00000159352 359 1 0.28 166 193 53.76 - - - PTPRD 0 genome.wustl.edu 37 9 8504363 8504363 + Nonsense_Mutation SNP C C A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 9 8504363 8504363 C A SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known nonsense c.1720 p.G574* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 560 0 0.00 545 94 14.69 - - - SEPHS2 0 genome.wustl.edu 37 16 30455839 30455839 + Missense_Mutation SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 16 30455839 30455839 C T SNP SEPHS2 ENST00000542752 human ensembl 69_37n -1 known missense c.1039 p.V347I 1.000 pfam_AIR_synth_C,superfamily_AIR_synth_C,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C,pfam_AIR_synth,superfamily_AIR_synth_C,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 130 0 0.00 94 88 48.35 - - - SGPL1 0 genome.wustl.edu 37 10 72604349 72604349 + Nonsense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 10 72604349 72604349 G A SNP SGPL1 ENST00000373202 human ensembl 69_37n +1 known nonsense c.147 p.W49* 0.996 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC ENSG00000166224 222 0 0.00 201 47 18.88 - - - SLC32A1 0 genome.wustl.edu 37 20 37356319 37356319 + Silent SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 20 37356319 37356319 G A SNP SLC32A1 ENST00000217420 human ensembl 69_37n +1 known silent c.615 p.V205 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 64 0 0.00 75 13 14.77 - - - SLCO3A1 0 genome.wustl.edu 37 15 92671615 92671615 + Missense_Mutation SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 15 92671615 92671615 C T SNP SLCO3A1 ENST00000318445 human ensembl 69_37n +1 known missense c.1408 p.P470S 0.001 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 314 0 0.00 285 38 11.76 - - - SOX5 0 genome.wustl.edu 37 12 23687456 23687457 + Frame_Shift_Ins INS - - A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 12 23687456 23687457 - A INS SOX5 ENST00000451604 human ensembl 69_37n -1 known frame_shift_ins c.1989_1990 p.Q665fs 1.000:1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC ENSG00000134532 139 0 0.00 117 58 33.14 - - - TFRC 0 genome.wustl.edu 37 3 195787076 195787076 + Missense_Mutation SNP G G A TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 3 195787076 195787076 G A SNP TFRC ENST00000360110 human ensembl 69_37n -1 known missense c.1511 p.T504M 0.008 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 273 0 0.00 207 68 24.73 - - - TMC2 0 genome.wustl.edu 37 20 2596835 2596835 + Missense_Mutation SNP A A G TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 20 2596835 2596835 A G SNP TMC2 ENST00000358864 human ensembl 69_37n +1 known missense c.1925 p.N642S 1.000 pfam_TMC pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 225 0 0.00 197 116 37.06 - - - TRIB2 0 genome.wustl.edu 37 2 12880596 12880596 + Silent SNP C C T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 2 12880596 12880596 C T SNP TRIB2 ENST00000155926 human ensembl 69_37n +1 known silent c.708 p.D236 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_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 TRIB2 HGNC ENSG00000071575 80 0 0.00 62 47 43.12 - - - VNN2 0 genome.wustl.edu 37 6 133072390 133072390 + Missense_Mutation SNP A A T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 6 133072390 133072390 A T SNP VNN2 ENST00000326499 human ensembl 69_37n -1 known missense c.1094 p.L365H 0.954 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 378 0 0.00 257 120 31.83 - - - ZNF680 0 genome.wustl.edu 37 7 63982642 63982642 + Missense_Mutation SNP G G T TCGA-AN-A0FZ-01A-11W-A050-09 TCGA-AN-A0FZ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d77f59f7-8cff-41f3-a1bb-0de14524d4f4 5605aad9-7f20-4db3-9ed8-cae136f5773b 7 63982642 63982642 G T SNP ZNF680 ENST00000309683 human ensembl 69_37n -1 known missense c.490 p.H164N 0.001 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 ZNF680 HGNC ENSG00000173041 208 0 0.00 104 20 16.13 - - -