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 ASPM 0 genome.wustl.edu 37 1 197059075 197059075 + Silent SNP C C T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 1 197059075 197059075 C T SNP ASPM ENST00000367409 human ensembl 69_37n -1 known silent c.9969 p.L3323 1.000 superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 74 0 0.00 77 56 42.11 - - - BTNL9 0 genome.wustl.edu 37 5 180486582 180486582 + Missense_Mutation SNP G G A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 5 180486582 180486582 G A SNP BTNL9 ENST00000376842 human ensembl 69_37n +1 known missense c.1331 p.R444H 0.001 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL9 HGNC ENSG00000165810 16 0 0.00 17 7 29.17 - - - CASC1 0 genome.wustl.edu 37 12 25307302 25307302 + Missense_Mutation SNP G G T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 12 25307302 25307302 G T SNP CASC1 ENST00000395987 human ensembl 69_37n -1 known missense c.389 p.T130K 0.791 NULL pfam_Casc1_domain,prints_Casc1 - no_errors CASC1 HGNC ENSG00000118307 316 0 0.00 245 132 35.01 - - - CBFB 0 genome.wustl.edu 37 16 67100598 67100598 + Missense_Mutation SNP C C T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 16 67100598 67100598 C T SNP CBFB ENST00000290858 human ensembl 69_37n +1 known missense c.296 p.A99V 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 421 0 0.00 112 197 63.55 - - - CCNB3 0 genome.wustl.edu 37 X 50094618 50094618 + Missense_Mutation SNP A A T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 X 50094618 50094618 A T SNP CCNB3 ENST00000276014 human ensembl 69_37n +1 known missense c.4104 p.E1368D 1.000 pfam_Cyclin_C,superfamily_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 290 0 0.00 227 167 42.39 - - - CEP170 0 genome.wustl.edu 37 1 243289876 243289876 + Missense_Mutation SNP G G A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 1 243289876 243289876 G A SNP CEP170 ENST00000366542 human ensembl 69_37n -1 known missense c.4630 p.L1544F 0.998 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 70 0 0.00 90 22 19.64 - - - ENSG00000210082 0 genome.wustl.edu 37 MT 2499 2499 + RNA SNP T T C TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 MT 2499 2499 T C SNP ENSG00000210082 ENST00000387347 human ensembl 69_37n +1 known rna NULL NULL NULL - - - no_errors J01415.4 Clone_based_ensembl_gene ENSG00000210082 154 0 0.00 108 28 20.59 - - - EVI5 0 genome.wustl.edu 37 1 93131496 93131496 + Frame_Shift_Del DEL T T - TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 1 93131496 93131496 T - DEL EVI5 ENST00000543509 human ensembl 69_37n -1 known frame_shift_del c.1344 p.E449fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5 HGNC ENSG00000067208 398 0 0.00 276 164 36.77 - - - FBXW12 0 genome.wustl.edu 37 3 48416853 48416853 + Missense_Mutation SNP C C T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 3 48416853 48416853 C T SNP FBXW12 ENST00000296438 human ensembl 69_37n +1 known missense c.296 p.T99M 0.000 superfamily_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXW12 HGNC ENSG00000164049 191 0 0.00 227 55 19.50 - - - GABRG2 0 genome.wustl.edu 37 5 161522529 161522529 + Missense_Mutation SNP G G A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 5 161522529 161522529 G A SNP GABRG2 ENST00000356592 human ensembl 69_37n +1 known missense c.288 p.M96I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 325 0 0.00 296 135 31.32 - - - GBP1 0 genome.wustl.edu 37 1 89521803 89521805 + In_Frame_Del DEL CTT CTT - TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 1 89521803 89521805 CTT - DEL GBP1 ENST00000370473 human ensembl 69_37n -1 known in_frame_del c.1264_1262 p.E421in_frame_del 0.012:0.000:0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP1 HGNC ENSG00000117228 266 0 0.00 294 92 23.77 - - - GSPT2 0 genome.wustl.edu 37 X 51488514 51488514 + Missense_Mutation SNP A A G TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 X 51488514 51488514 A G SNP GSPT2 ENST00000340438 human ensembl 69_37n +1 known missense c.1792 p.K598E 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors GSPT2 HGNC ENSG00000189369 127 1 0.78 87 43 33.08 - - - HFM1 0 genome.wustl.edu 37 1 91727807 91727807 + Missense_Mutation SNP A A G TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 1 91727807 91727807 A G SNP HFM1 ENST00000370425 human ensembl 69_37n -1 known missense c.4229 p.V1410A 0.832 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 107 0 0.00 66 35 34.65 - - - IL33 0 genome.wustl.edu 37 9 6252949 6252949 + Missense_Mutation SNP T T G TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 9 6252949 6252949 T G SNP IL33 ENST00000381434 human ensembl 69_37n +1 known missense c.427 p.Y143D 0.078 NULL NULL - no_errors IL33 HGNC ENSG00000137033 159 0 0.00 93 77 45.29 - - - JUN 0 genome.wustl.edu 37 1 59248498 59248498 + Frame_Shift_Del DEL T T - TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 1 59248498 59248498 T - DEL JUN ENST00000371222 human ensembl 69_37n -1 known frame_shift_del c.245 p.Q82fs 1.000 pfam_JNK pfam_JNK,pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 51 0 0.00 38 19 33.33 - - - LYPD4 0 genome.wustl.edu 37 19 42342215 42342215 + Missense_Mutation SNP C C T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 19 42342215 42342215 C T SNP LYPD4 ENST00000330743 human ensembl 69_37n -1 known missense c.332 p.R111Q 0.824 NULL pfam_LY6_UPAR - no_errors LYPD4 HGNC ENSG00000183103 116 0 0.00 62 63 50.40 - - - MLPH 0 genome.wustl.edu 37 2 238461047 238461047 + Missense_Mutation SNP C C T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 2 238461047 238461047 C T SNP MLPH ENST00000432475 human ensembl 69_37n +1 known missense c.538 p.R180C 0.857 NULL pfam_Myelin-assoc_OBP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MLPH HGNC ENSG00000115648 71 0 0.00 53 32 37.65 - - - MT-CYB 0 genome.wustl.edu 37 MT 14805 14805 + Missense_Mutation SNP A A G TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 MT 14805 14805 A G SNP MT-CYB ENST00000361789 human ensembl 69_37n +1 known missense c.59 p.D20G NULL superfamily_Di-haem_cyt_TM,pfscan_Cyt_b/b6_N pfam_Cyt_b/b6_C,pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,superfamily_Cyt_b/b6_C,pfscan_Cyt_b/b6_N,pfscan_Cyt_b/b6_C - no_stop_codon:bad_bp_length_for_coding_region MT-CYB HGNC ENSG00000198727 316 1 0.31 238 35 12.82 - - - MYH9 0 genome.wustl.edu 37 22 36697633 36697634 + In_Frame_Ins INS - - GAG TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 22 36697633 36697634 - GAG INS MYH9 ENST00000216181 human ensembl 69_37n -1 known in_frame_ins c.2578_2577 p.859in_frame_insL 1.000:1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 169 0 0.00 50 53 51.46 - - - MYH9 0 genome.wustl.edu 37 22 36697634 36697634 + Missense_Mutation SNP C C A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 22 36697634 36697634 C A SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known missense c.2577 p.E859D 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 174 0 0.00 46 54 53.47 - - - MYH9 0 genome.wustl.edu 37 22 36697635 36697635 + Missense_Mutation SNP T T A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 22 36697635 36697635 T A SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known missense c.2576 p.E859V 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 173 0 0.00 46 55 54.46 - - - NEIL1 0 genome.wustl.edu 37 15 75647320 75647320 + Missense_Mutation SNP G G A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 15 75647320 75647320 G A SNP NEIL1 ENST00000355059 human ensembl 69_37n +1 known missense c.1118 p.R373Q 0.000 NULL pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 64 0 0.00 35 35 50.00 - - - NEK1 0 genome.wustl.edu 37 4 170321765 170321765 + Silent SNP G G A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 4 170321765 170321765 G A SNP NEK1 ENST00000507142 human ensembl 69_37n -1 known silent c.3621 p.C1207 0.991 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 167 0 0.00 139 97 41.10 - - - PANK4 0 genome.wustl.edu 37 1 2453186 2453186 + Missense_Mutation SNP T T C TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 1 2453186 2453186 T C SNP PANK4 ENST00000378466 human ensembl 69_37n -1 known missense c.178 p.K60E 0.987 pfam_Type_II_PanK,pirsf_PanK_long,tigrfam_Type_II_PanK pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC ENSG00000157881 118 0 0.00 86 56 39.44 - - - PCDHGC3 0 genome.wustl.edu 37 5 140857180 140857180 + Silent SNP A A G TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 5 140857180 140857180 A G SNP PCDHGC3 ENST00000308177 human ensembl 69_37n +1 known silent c.1497 p.Q499 0.000 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 PCDHGC3 HGNC ENSG00000240184 92 0 0.00 62 39 38.61 - - - PCOLCE 0 genome.wustl.edu 37 7 100203382 100203382 + Silent SNP C C G TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 7 100203382 100203382 C G SNP PCOLCE ENST00000223061 human ensembl 69_37n +1 known silent c.672 p.A224 0.033 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 29 0 0.00 18 10 35.71 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 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 131 0 0.00 75 61 44.85 - - - PNPLA6 0 genome.wustl.edu 37 19 7605077 7605077 + Silent SNP C C T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 19 7605077 7605077 C T SNP PNPLA6 ENST00000414982 human ensembl 69_37n +1 known silent c.624 p.C208 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 40 0 0.00 27 10 27.03 - - - PTCH1 0 genome.wustl.edu 37 9 98215818 98215818 + Missense_Mutation SNP C C T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 9 98215818 98215818 C T SNP PTCH1 ENST00000331920 human ensembl 69_37n -1 known missense c.3391 p.V1131M 0.997 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 31 0 0.00 24 14 36.84 - - - RP1 0 genome.wustl.edu 37 8 55533670 55533670 + Silent SNP C C T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 8 55533670 55533670 C T SNP RP1 ENST00000220676 human ensembl 69_37n +1 known silent c.144 p.F48 0.008 superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 140 0 0.00 114 66 36.67 - - - SCN4A 0 genome.wustl.edu 37 17 62018350 62018350 + Silent SNP G G A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 17 62018350 62018350 G A SNP SCN4A ENST00000435607 human ensembl 69_37n -1 known silent c.5292 p.D1764 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 85 0 0.00 56 44 44.00 - - - SLC2A9 0 genome.wustl.edu 37 4 9836553 9836553 + Silent SNP G G A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 4 9836553 9836553 G A SNP SLC2A9 ENST00000264784 human ensembl 69_37n -1 known silent c.1371 p.V457 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 38 0 0.00 28 24 46.15 - - - TBL1XR1 0 genome.wustl.edu 37 3 176765098 176765098 + Missense_Mutation SNP C C A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 3 176765098 176765098 C A SNP TBL1XR1 ENST00000430069 human ensembl 69_37n -1 known missense c.854 p.G285V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL1XR1 HGNC ENSG00000177565 77 0 0.00 52 44 45.83 - - - THBS1 0 genome.wustl.edu 37 15 39883768 39883768 + Missense_Mutation SNP A A G TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 15 39883768 39883768 A G SNP THBS1 ENST00000260356 human ensembl 69_37n +1 known missense c.2476 p.M826V 0.937 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 195 0 0.00 139 98 41.18 - - - TMEM145 0 genome.wustl.edu 37 19 42820840 42820840 + Missense_Mutation SNP C C A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 19 42820840 42820840 C A SNP TMEM145 ENST00000301204 human ensembl 69_37n +1 known missense c.754 p.L252I 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC ENSG00000167619 93 0 0.00 63 41 39.42 - - - USP54 0 genome.wustl.edu 37 10 75276172 75276172 + Missense_Mutation SNP C C G TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 10 75276172 75276172 C G SNP USP54 ENST00000339859 human ensembl 69_37n -1 known missense c.4012 p.G1338R 0.998 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP54 HGNC ENSG00000166348 147 0 0.00 88 59 40.14 - - - WWTR1 0 genome.wustl.edu 37 3 149243909 149243909 + Silent SNP C C A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 3 149243909 149243909 C A SNP WWTR1 ENST00000360632 human ensembl 69_37n -1 known silent c.909 p.G303 0.994 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWTR1 HGNC ENSG00000018408 103 0 0.00 88 30 25.42 - - - XKR6 0 genome.wustl.edu 37 8 10755750 10755750 + Missense_Mutation SNP G G A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 8 10755750 10755750 G A SNP XKR6 ENST00000382461 human ensembl 69_37n -1 putative missense c.968 p.P323L 1.000 NULL pfam_Transport_prot_XK - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region XKR6 HGNC ENSG00000171044 23 0 0.00 15 6 28.57 - - - ZNF592 0 genome.wustl.edu 37 15 85341673 85341673 + Missense_Mutation SNP G G T TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx bbbcb493-2937-4a7b-8454-0abbbb379927 5465e36a-97f7-4408-81c1-9f8e836c1279 15 85341673 85341673 G T SNP ZNF592 ENST00000299927 human ensembl 69_37n +1 known missense c.2704 p.V902L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 66 0 0.00 41 30 42.25 - - -