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 ADORA3 0 genome.wustl.edu 37 1 112031583 112031583 + Missense_Mutation SNP C C T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 1 112031583 112031583 C T SNP ADORA3 ENST00000369716 human ensembl 69_37n -1 known missense c.521 p.C174Y 0.991 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adeno_A3_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors ADORA3 HGNC ENSG00000121933 145 1 0.68 302 101 25.06 - - - APOB 0 genome.wustl.edu 37 2 21228741 21228743 + In_Frame_Del DEL CTT CTT - TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 2 21228741 21228743 CTT - DEL APOB ENST00000233242 human ensembl 69_37n -1 known in_frame_del c.10999_10997 p.E3666in_frame_del 1.000:0.999:1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 108 0 0.00 223 34 13.13 - - - ATP13A1 0 genome.wustl.edu 37 19 19766177 19766177 + Silent SNP G G T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 19 19766177 19766177 G T SNP ATP13A1 ENST00000357324 human ensembl 69_37n -1 known silent c.1482 p.P494 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A1 HGNC ENSG00000105726 55 0 0.00 130 74 36.27 - - - BICC1 0 genome.wustl.edu 37 10 60560727 60560727 + Missense_Mutation SNP A A T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 10 60560727 60560727 A T SNP BICC1 ENST00000373886 human ensembl 69_37n +1 known missense c.1936 p.M646L 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 105 0 0.00 138 24 14.81 - - - BMP2K 0 genome.wustl.edu 37 4 79832817 79832817 + Nonsense_Mutation SNP C C A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 4 79832817 79832817 C A SNP BMP2K ENST00000335016 human ensembl 69_37n +1 known nonsense c.3116 p.S1039* 1.000 NULL 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 BMP2K HGNC ENSG00000138756 25 0 0.00 18 9 33.33 - - - BMS1 0 genome.wustl.edu 37 10 43326387 43326387 + Missense_Mutation SNP T T A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 10 43326387 43326387 T A SNP BMS1 ENST00000374518 human ensembl 69_37n +1 known missense c.3692 p.L1231Q 0.956 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_ProtSyn_GTP-bd,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 42 0 0.00 54 29 34.94 - - - C17orf64 0 genome.wustl.edu 37 17 58503620 58503620 + Missense_Mutation SNP C C A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 17 58503620 58503620 C A SNP C17orf64 ENST00000269127 human ensembl 69_37n +1 known missense c.252 p.S84R 1.000 NULL NULL - no_errors C17orf64 HGNC ENSG00000141371 80 0 0.00 59 228 79.17 - - - C1orf114 0 genome.wustl.edu 37 1 169364427 169364427 + Missense_Mutation SNP C C T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 1 169364427 169364427 C T SNP C1orf114 ENST00000367806 human ensembl 69_37n -1 known missense c.1388 p.R463Q 0.891 NULL NULL - no_errors C1orf114 HGNC ENSG00000117477 153 0 0.00 358 78 17.89 - - - C3orf52 0 genome.wustl.edu 37 3 111831902 111831902 + Missense_Mutation SNP G G T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 3 111831902 111831902 G T SNP C3orf52 ENST00000264848 human ensembl 69_37n +1 known missense c.559 p.V187L 1.000 NULL NULL - no_errors C3orf52 HGNC ENSG00000114529 284 0 0.00 586 152 20.60 - - - CALB2 0 genome.wustl.edu 37 16 71408680 71408682 + In_Frame_Del DEL GAA GAA - TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 16 71408680 71408682 GAA - DEL CALB2 ENST00000302628 human ensembl 69_37n +1 known in_frame_del c.204_206 p.K69in_frame_del 1.000:1.000:1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALB2 HGNC ENSG00000172137 92 0 0.00 160 39 19.60 - - - CAP1 0 genome.wustl.edu 37 1 40530205 40530205 + Missense_Mutation SNP C C G TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 1 40530205 40530205 C G SNP CAP1 ENST00000372792 human ensembl 69_37n +1 known missense c.498 p.N166K 1.000 pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 134 0 0.00 209 55 20.83 - - - DSCAM 0 genome.wustl.edu 37 21 41559154 41559154 + Missense_Mutation SNP C C G TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 21 41559154 41559154 C G SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known missense c.2683 p.D895H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 155 0 0.00 264 35 11.71 - - - DSPP 0 genome.wustl.edu 37 4 88537096 88537096 + Silent SNP T T C TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 4 88537096 88537096 T C SNP DSPP ENST00000282478 human ensembl 69_37n +1 known silent c.3282 p.S1094 0.001 NULL NULL - no_errors DSPP HGNC ENSG00000152591 14 0 0.00 34 31 47.69 - - - ESPN 0 genome.wustl.edu 37 1 6511895 6511895 + Nonsense_Mutation SNP C C T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 1 6511895 6511895 C T SNP ESPN ENST00000434576 human ensembl 69_37n +1 known nonsense c.94 p.R32* 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ESPN HGNC ENSG00000187017 13 0 0.00 19 16 45.71 - - - FAM40A 0 genome.wustl.edu 37 1 110590491 110590492 + Frame_Shift_Ins INS - - GTGA TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 1 110590491 110590492 - GTGA INS FAM40A ENST00000369795 human ensembl 69_37n +1 known frame_shift_ins c.1661_1662 p.T555fs 1.000:1.000 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors FAM40A HGNC ENSG00000143093 89 0 0.00 174 33 15.94 - - - FDXR 0 genome.wustl.edu 37 17 72860220 72860220 + Missense_Mutation SNP G G C TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 17 72860220 72860220 G C SNP FDXR ENST00000455107 human ensembl 69_37n -1 known missense c.920 p.P307R 0.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 14 0 0.00 38 7 15.56 - - - FGD5 0 genome.wustl.edu 37 3 14860967 14860967 + Missense_Mutation SNP C C T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 3 14860967 14860967 C T SNP FGD5 ENST00000285046 human ensembl 69_37n +1 known missense c.389 p.A130V 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 13 0 0.00 12 13 52.00 - - - GPR133 0 genome.wustl.edu 37 12 131488811 131488811 + Nonsense_Mutation SNP C C T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 12 131488811 131488811 C T SNP GPR133 ENST00000261654 human ensembl 69_37n +1 known nonsense c.1225 p.Q409* 0.106 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 39 0 0.00 69 28 28.87 - - - HSPG2 0 genome.wustl.edu 37 1 22180806 22180806 + Missense_Mutation SNP C C A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 1 22180806 22180806 C A SNP HSPG2 ENST00000374695 human ensembl 69_37n -1 known missense c.6319 p.V2107F 0.944 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 12 0 0.00 33 15 30.61 - - - KIF26B 0 genome.wustl.edu 37 1 245772787 245772787 + Missense_Mutation SNP C C T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 1 245772787 245772787 C T SNP KIF26B ENST00000407071 human ensembl 69_37n +1 known missense c.1871 p.S624F 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 17 0 0.00 27 22 44.90 - - - LRP1B 0 genome.wustl.edu 37 2 141130589 141130589 + Missense_Mutation SNP T T G TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 2 141130589 141130589 T G SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known missense c.10756 p.S3586R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 243 1 0.41 268 153 36.34 - - - MAGEB3 0 genome.wustl.edu 37 X 30254466 30254466 + Frame_Shift_Del DEL A A - TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d X 30254466 30254466 A - DEL MAGEB3 ENST00000361644 human ensembl 69_37n +1 known frame_shift_del c.425 p.S144fs 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 196 0 0.00 251 32 11.23 - - - MAST1 0 genome.wustl.edu 37 19 12980054 12980054 + Missense_Mutation SNP C C A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 19 12980054 12980054 C A SNP MAST1 ENST00000251472 human ensembl 69_37n +1 known missense c.2948 p.A983D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 MAST1 HGNC ENSG00000105613 37 0 0.00 75 39 33.91 - - - MTM1 0 genome.wustl.edu 37 X 149818284 149818284 + Frame_Shift_Del DEL A A - TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d X 149818284 149818284 A - DEL MTM1 ENST00000370396 human ensembl 69_37n +1 known frame_shift_del c.963 p.V324fs 1.000 smart_Tyr_Pase_cat pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTM1 HGNC ENSG00000171100 104 0 0.00 186 38 16.67 - - - MYH13 0 genome.wustl.edu 37 17 10219317 10219317 + Missense_Mutation SNP G G A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 17 10219317 10219317 G A SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known missense c.3764 p.T1255M 0.739 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 138 0 0.00 66 281 80.98 - - - MYH7B 0 genome.wustl.edu 37 20 33577577 33577577 + Missense_Mutation SNP G G T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 20 33577577 33577577 G T SNP MYH7B ENST00000262873 human ensembl 69_37n +1 novel missense c.1748 p.C583F 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 37 0 0.00 78 18 18.75 - - - NAA15 0 genome.wustl.edu 37 4 140280938 140280938 + Silent SNP G G A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 4 140280938 140280938 G A SNP NAA15 ENST00000296543 human ensembl 69_37n +1 known silent c.1299 p.E433 0.997 smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 94 0 0.00 171 31 15.35 - - - OBSCN 0 genome.wustl.edu 37 1 228556454 228556454 + Missense_Mutation SNP G G T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 1 228556454 228556454 G T SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.19799 p.R6600L 0.987 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_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 61 0 0.00 267 63 19.09 - - - OR2AG2 0 genome.wustl.edu 37 11 6789772 6789772 + Missense_Mutation SNP T T A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 11 6789772 6789772 T A SNP OR2AG2 ENST00000338569 human ensembl 69_37n -1 novel missense c.417 p.R139S 0.004 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2AG2 HGNC ENSG00000188124 68 0 0.00 53 42 44.21 - - - PCDHA13 0 genome.wustl.edu 37 5 140263636 140263636 + Missense_Mutation SNP C C T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 5 140263636 140263636 C T SNP PCDHA13 ENST00000289272 human ensembl 69_37n +1 known missense c.1783 p.R595C 0.193 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 PCDHA13 HGNC ENSG00000239389 19 0 0.00 39 23 37.10 - - - PHF16 0 genome.wustl.edu 37 X 46887478 46887478 + Silent SNP T T C TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d X 46887478 46887478 T C SNP PHF16 ENST00000218343 human ensembl 69_37n +1 known silent c.660 p.C220 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 183 1 0.54 385 63 14.03 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 94 0 0.00 132 86 39.45 - - - PRDM5 0 genome.wustl.edu 37 4 121739601 121739601 + Missense_Mutation SNP A A T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 4 121739601 121739601 A T SNP PRDM5 ENST00000264808 human ensembl 69_37n -1 known missense c.557 p.L186H 1.000 smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 145 0 0.00 119 35 22.73 - - - PRG4 0 genome.wustl.edu 37 1 186277245 186277245 + Silent SNP C C A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 1 186277245 186277245 C A SNP PRG4 ENST00000445192 human ensembl 69_37n +1 known silent c.2394 p.A798 0.093 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 295 0 0.00 758 170 18.28 - - - PRX 0 genome.wustl.edu 37 19 40901124 40901124 + Missense_Mutation SNP C C A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 19 40901124 40901124 C A SNP PRX ENST00000324001 human ensembl 69_37n -1 known missense c.3135 p.L1045F 0.310 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 18 0 0.00 54 12 18.18 - - - RGSL1 0 genome.wustl.edu 37 1 182517904 182517904 + Missense_Mutation SNP G G A TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 1 182517904 182517904 G A SNP RGSL1 ENST00000294854 human ensembl 69_37n +1 known missense c.2878 p.V960I 0.043 superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam - no_errors RGSL1 HGNC ENSG00000121446 149 0 0.00 477 103 17.73 - - - SLC9A4 0 genome.wustl.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 2 103149137 103149137 A - DEL SLC9A4 ENST00000295269 human ensembl 69_37n +1 known frame_shift_del c.2387 p.K798fs 0.597 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 25 0 0.00 29 4 11.76 - - - THSD7A 0 genome.wustl.edu 37 7 11464427 11464427 + Missense_Mutation SNP G G T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 7 11464427 11464427 G T SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known missense c.3279 p.D1093E 1.000 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 THSD7A HGNC ENSG00000005108 88 0 0.00 141 61 30.20 - - - TINAG 0 genome.wustl.edu 37 6 54214608 54214608 + Missense_Mutation SNP C C T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 6 54214608 54214608 C T SNP TINAG ENST00000259782 human ensembl 69_37n +1 known missense c.994 p.R332W 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 72 0 0.00 138 68 33.01 - - - TMEM247 0 genome.wustl.edu 37 2 46707884 46707884 + Missense_Mutation SNP A A G TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 2 46707884 46707884 A G SNP TMEM247 ENST00000434431 human ensembl 69_37n +1 known missense c.458 p.Q153R 0.238 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region TMEM247 HGNC ENSG00000187600 9 0 0.00 33 12 26.67 - - - TMEM247 0 genome.wustl.edu 37 2 46707885 46707885 + Silent SNP A A G TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 2 46707885 46707885 A G SNP TMEM247 ENST00000434431 human ensembl 69_37n +1 known silent c.459 p.Q153 0.091 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region TMEM247 HGNC ENSG00000187600 8 0 0.00 33 11 25.00 - - - TTC18 0 genome.wustl.edu 37 10 75114545 75114545 + Missense_Mutation SNP C C G TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 10 75114545 75114545 C G SNP TTC18 ENST00000310715 human ensembl 69_37n -1 known missense c.10 p.V4L 0.003 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 100 0 0.00 111 64 36.57 - - - UBC 0 genome.wustl.edu 37 12 125397945 125397945 + Missense_Mutation SNP G G C TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 12 125397945 125397945 G C SNP UBC ENST00000339647 human ensembl 69_37n -1 known missense c.373 p.Q125E 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 185 0 0.00 207 71 25.54 - - - ZNF841 0 genome.wustl.edu 37 19 52569631 52569631 + Missense_Mutation SNP C C T TCGA-D8-A143-01A-11D-A10Y-09 TCGA-D8-A143-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx db1763d1-fcae-4a01-a0cb-3019e292aa10 a8bb9607-a942-4e01-a4e3-faeeff223d0d 19 52569631 52569631 C T SNP ZNF841 ENST00000389534 human ensembl 69_37n -1 known missense c.1504 p.V502M 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ENSG00000197608 71 0 0.00 99 26 20.80 - - -