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 AARS2 0 genome.wustl.edu 37 6 44274674 44274674 + Missense_Mutation SNP C C G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 6 44274674 44274674 C G SNP AARS2 ENST00000244571 human ensembl 69_37n -1 known missense c.1135 p.V379L 1.000 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-synth_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc - no_errors AARS2 HGNC ENSG00000124608 40 0 0.00 99 27 21.26 - - - ADAMTS4 0 genome.wustl.edu 37 1 161168097 161168097 + Silent SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 161168097 161168097 C T SNP ADAMTS4 ENST00000367996 human ensembl 69_37n -1 known silent c.321 p.L107 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 35 0 0.00 47 15 24.19 - - - AFF2 0 genome.wustl.edu 37 X 148055076 148055076 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 X 148055076 148055076 C T SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known missense c.3343 p.R1115C 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 166 0 0.00 68 69 50.36 - - - ALAS2 0 genome.wustl.edu 37 X 55041341 55041342 + Frame_Shift_Ins INS - - G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 X 55041341 55041342 - G INS ALAS2 ENST00000330807 human ensembl 69_37n -1 known frame_shift_ins c.1276_1275 p.M425fs 1.000:0.967 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 23 0 0.00 16 2 11.11 - - - AMOTL1 0 genome.wustl.edu 37 11 94599220 94599220 + Missense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 11 94599220 94599220 G A SNP AMOTL1 ENST00000433060 human ensembl 69_37n +1 known missense c.2375 p.R792H 1.000 pfam_Angiomotin_C pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 69 0 0.00 46 6 11.54 - - - APOB 0 genome.wustl.edu 37 2 21225768 21225768 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 2 21225768 21225768 C T SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.12526 p.V4176I 0.000 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 143 0 0.00 81 21 20.59 - - - ARHGAP6 0 genome.wustl.edu 37 X 11196301 11196301 + Silent SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 X 11196301 11196301 G A SNP ARHGAP6 ENST00000337414 human ensembl 69_37n -1 known silent c.1548 p.C516 0.965 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 80 0 0.00 27 28 50.91 - - - BEND4 0 genome.wustl.edu 37 4 42145757 42145757 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 4 42145757 42145757 C T SNP BEND4 ENST00000502486 human ensembl 69_37n -1 known missense c.742 p.V248I 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 39 0 0.00 48 13 20.97 - - - BHLHE41 0 genome.wustl.edu 37 12 26276608 26276608 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 12 26276608 26276608 C T SNP BHLHE41 ENST00000242728 human ensembl 69_37n -1 known missense c.301 p.A101T 1.000 superfamily_HLH_DNA-bd,smart_HLH_DNA-bd pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors BHLHE41 HGNC ENSG00000123095 79 0 0.00 52 6 10.34 - - - C1orf168 0 genome.wustl.edu 37 1 57258333 57258333 + Silent SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 57258333 57258333 A G SNP C1orf168 ENST00000343433 human ensembl 69_37n -1 known silent c.153 p.N51 0.302 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 562 0 0.00 571 92 13.81 - - - C1orf173 0 genome.wustl.edu 37 1 75038229 75038229 + Silent SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 75038229 75038229 A G SNP C1orf173 ENST00000326665 human ensembl 69_37n -1 known silent c.3165 p.D1055 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 672 0 0.00 534 70 11.59 - - - CBLB 0 genome.wustl.edu 37 3 105421144 105421144 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 3 105421144 105421144 C T SNP CBLB ENST00000264122 human ensembl 69_37n -1 known missense c.1753 p.D585N 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 77 0 0.00 57 66 53.66 - - - CCDC102B 0 genome.wustl.edu 37 18 66505946 66505946 + Missense_Mutation SNP C C A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 18 66505946 66505946 C A SNP CCDC102B ENST00000319445 human ensembl 69_37n +1 known missense c.610 p.Q204K 0.049 NULL NULL - no_errors CCDC102B HGNC ENSG00000150636 131 0 0.00 79 21 20.79 - - - CCDC67 0 genome.wustl.edu 37 11 93104384 93104384 + Missense_Mutation SNP A A C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 11 93104384 93104384 A C SNP CCDC67 ENST00000298050 human ensembl 69_37n +1 known missense c.727 p.K243Q 1.000 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 186 0 0.00 171 22 11.40 - - - CD37 0 genome.wustl.edu 37 19 49838991 49838991 + Missense_Mutation SNP C C A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 19 49838991 49838991 C A SNP CD37 ENST00000323906 human ensembl 69_37n +1 known missense c.90 p.F30L 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD37 HGNC ENSG00000104894 254 0 0.00 650 106 14.02 - - - CDH12 0 genome.wustl.edu 37 5 21751992 21751992 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 5 21751992 21751992 C T SNP CDH12 ENST00000382254 human ensembl 69_37n -1 known missense c.2239 p.V747M 0.748 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH12 HGNC ENSG00000154162 266 0 0.00 205 118 36.42 - - - CFH 0 genome.wustl.edu 37 1 196706080 196706080 + Missense_Mutation SNP A A T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 196706080 196706080 A T SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.2540 p.E847V 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 122 0 0.00 121 21 14.79 - - - COL4A3 0 genome.wustl.edu 37 2 228121089 228121089 + Missense_Mutation SNP T T A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 2 228121089 228121089 T A SNP COL4A3 ENST00000396578 human ensembl 69_37n +1 known missense c.964 p.L322I 0.886 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 113 0 0.00 77 27 25.96 - - - CTH 0 genome.wustl.edu 37 1 70895527 70895527 + Nonsense_Mutation SNP C C G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 70895527 70895527 C G SNP CTH ENST00000370938 human ensembl 69_37n +1 known nonsense c.639 p.Y213* 1.000 pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz - no_errors CTH HGNC ENSG00000116761 63 0 0.00 89 14 13.59 - - - DACH2 0 genome.wustl.edu 37 X 85769372 85769372 + Silent SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 X 85769372 85769372 G A SNP DACH2 ENST00000373125 human ensembl 69_37n +1 known silent c.618 p.S206 0.991 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 83 0 0.00 46 14 23.33 - - - DNAJC13 0 genome.wustl.edu 37 3 132218599 132218599 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 3 132218599 132218599 C T SNP DNAJC13 ENST00000260818 human ensembl 69_37n +1 known missense c.4363 p.R1455C 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 298 0 0.00 343 85 19.86 - - - DPP3 0 genome.wustl.edu 37 11 66276589 66276589 + Missense_Mutation SNP C C A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 11 66276589 66276589 C A SNP DPP3 ENST00000360510 human ensembl 69_37n +1 known missense c.2081 p.A694D 0.996 pirsf_Pept_49_dipeptidyl-pept-3_euk pirsf_Pept_49_dipeptidyl-pept-3_euk - no_errors DPP3 HGNC ENSG00000254986 63 0 0.00 66 18 21.43 - - - DYRK3 0 genome.wustl.edu 37 1 206821149 206821149 + Silent SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 206821149 206821149 A G SNP DYRK3 ENST00000367109 human ensembl 69_37n +1 known silent c.606 p.R202 1.000 superfamily_Kinase-like_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 228 0 0.00 480 56 10.43 - - - EAF2 0 genome.wustl.edu 37 3 121573546 121573546 + Missense_Mutation SNP C C G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 3 121573546 121573546 C G SNP EAF2 ENST00000273668 human ensembl 69_37n +1 known missense c.214 p.P72A 1.000 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 219 0 0.00 259 47 15.36 - - - FAM124A 0 genome.wustl.edu 37 13 51826286 51826286 + Missense_Mutation SNP C C A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 13 51826286 51826286 C A SNP FAM124A ENST00000280057 human ensembl 69_37n +1 known missense c.891 p.S297R 0.833 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 19 0 0.00 11 14 56.00 - - - FAT3 0 genome.wustl.edu 37 11 92534068 92534068 + Missense_Mutation SNP G G C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 11 92534068 92534068 G C SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.7889 p.G2630A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 60 0 0.00 59 10 14.49 - - - FSCN3 0 genome.wustl.edu 37 7 127238597 127238597 + Missense_Mutation SNP T T C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 7 127238597 127238597 T C SNP FSCN3 ENST00000265825 human ensembl 69_37n +1 known missense c.1069 p.F357L 0.979 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 103 0 0.00 106 95 47.26 - - - GABRB1 0 genome.wustl.edu 37 4 47427898 47427898 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 4 47427898 47427898 C T SNP GABRB1 ENST00000295454 human ensembl 69_37n +1 known missense c.1288 p.R430C 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 130 0 0.00 153 20 11.56 - - - GRID1 0 genome.wustl.edu 37 10 87406826 87406826 + RNA SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 10 87406826 87406826 G A SNP GRID1 ENST00000474115 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GRID1 HGNC ENSG00000182771 146 0 0.00 148 19 11.38 - - - GRIK2 0 genome.wustl.edu 37 6 102337557 102337557 + Nonsense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 6 102337557 102337557 C T SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known nonsense c.1567 p.R523* 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 194 0 0.00 191 31 13.96 - - - HECTD3 0 genome.wustl.edu 37 1 45472650 45472650 + Missense_Mutation SNP A A C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 45472650 45472650 A C SNP HECTD3 ENST00000372172 human ensembl 69_37n -1 known missense c.1594 p.F532V 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 66 0 0.00 79 10 11.24 - - - HHAT 0 genome.wustl.edu 37 1 210796928 210796928 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 210796928 210796928 C T SNP HHAT ENST00000391905 human ensembl 69_37n +1 known missense c.1304 p.S435F 0.998 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 369 0 0.00 436 237 35.22 - - - HIST1H2AE 0 genome.wustl.edu 37 6 26217305 26217305 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 6 26217305 26217305 C T SNP HIST1H2AE ENST00000303910 human ensembl 69_37n +1 known missense c.103 p.L35F 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC ENSG00000168274 72 0 0.00 54 48 47.06 - - - IL13RA2 0 genome.wustl.edu 37 X 114250277 114250277 + Missense_Mutation SNP C C G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 X 114250277 114250277 C G SNP IL13RA2 ENST00000243213 human ensembl 69_37n -1 known missense c.202 p.E68Q 0.988 superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 378 0 0.00 97 105 51.98 - - - INSRR 0 genome.wustl.edu 37 1 156821130 156821130 + Missense_Mutation SNP C C G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 156821130 156821130 C G SNP INSRR ENST00000368195 human ensembl 69_37n -1 known missense c.1181 p.G394A 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ENSG00000027644 135 0 0.00 202 92 31.29 - - - KCNA1 0 genome.wustl.edu 37 12 5021107 5021107 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 12 5021107 5021107 C T SNP KCNA1 ENST00000382545 human ensembl 69_37n +1 known missense c.563 p.T188M 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 76 0 0.00 66 10 13.16 - - - KIAA0947 0 genome.wustl.edu 37 5 5462931 5462931 + Missense_Mutation SNP A A C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 5 5462931 5462931 A C SNP KIAA0947 ENST00000296564 human ensembl 69_37n +1 known missense c.3484 p.S1162R 0.002 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 97 0 0.00 101 27 21.09 - - - KIF25 0 genome.wustl.edu 37 6 168440805 168440805 + Silent SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 6 168440805 168440805 G A SNP KIF25 ENST00000354419 human ensembl 69_37n +1 known silent c.555 p.A185 0.000 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 KIF25 HGNC ENSG00000125337 11 0 0.00 21 5 19.23 - - - KIR2DL2 0 genome.wustl.edu 37 GL000209.1 95635 95635 + Missense_Mutation SNP C C A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 GL000209.1 95635 95635 C A SNP KIR2DL2 ENST00000391731 human ensembl 69_37n +1 known missense c.1021 p.P341T NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 222 1 0.45 322 60 15.71 - - - KRT85 0 genome.wustl.edu 37 12 52760887 52760887 + Silent SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 12 52760887 52760887 G A SNP KRT85 ENST00000257901 human ensembl 69_37n -1 known silent c.303 p.N101 0.999 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 44 0 0.00 25 30 54.55 - - - KTN1 0 genome.wustl.edu 37 14 56114796 56114796 + Missense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 14 56114796 56114796 G A SNP KTN1 ENST00000395309 human ensembl 69_37n +1 known missense c.2261 p.G754E 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 125 0 0.00 67 11 14.10 - - - LCE1A 0 genome.wustl.edu 37 1 152800092 152800092 + Silent SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 152800092 152800092 C T SNP LCE1A ENST00000335123 human ensembl 69_37n +1 known silent c.144 p.S48 0.943 NULL NULL - no_errors LCE1A HGNC ENSG00000186844 104 0 0.00 140 22 13.58 - - - LIPN 0 genome.wustl.edu 37 10 90521951 90521953 + In_Frame_Del DEL ATC ATC - TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 10 90521951 90521953 ATC - DEL LIPN ENST00000404459 human ensembl 69_37n +1 known in_frame_del c.115_117 p.I41in_frame_del 0.996:1.000:0.999 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPN HGNC ENSG00000204020 71 0 0.00 44 5 10.20 - - - LOXL4 0 genome.wustl.edu 37 10 100017455 100017455 + Silent SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 10 100017455 100017455 A G SNP LOXL4 ENST00000260702 human ensembl 69_37n -1 known silent c.1212 p.N404 0.733 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL4 HGNC ENSG00000138131 40 0 0.00 33 7 17.50 - - - MAD2L1 0 genome.wustl.edu 37 4 120983241 120983241 + Missense_Mutation SNP T T A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 4 120983241 120983241 T A SNP MAD2L1 ENST00000296509 human ensembl 69_37n -1 known missense c.230 p.Y77F 1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L1 HGNC ENSG00000164109 99 0 0.00 90 12 11.76 - - - MARCH5 0 genome.wustl.edu 37 10 94109244 94109244 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 10 94109244 94109244 C T SNP MARCH5 ENST00000358935 human ensembl 69_37n +1 known missense c.508 p.R170C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC ENSG00000198060 281 0 0.00 310 91 22.69 - - - MSH2 0 genome.wustl.edu 37 2 47672761 47672761 + Missense_Mutation SNP C C G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 2 47672761 47672761 C G SNP MSH2 ENST00000233146 human ensembl 69_37n +1 known missense c.1351 p.Q451E 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 81 0 0.00 133 19 12.50 - - - MSH4 0 genome.wustl.edu 37 1 76269499 76269499 + Nonsense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 76269499 76269499 C T SNP MSH4 ENST00000263187 human ensembl 69_37n +1 known nonsense c.328 p.R110* 0.012 NULL pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 311 0 0.00 186 101 35.19 - - - MUC17 0 genome.wustl.edu 37 7 100678735 100678735 + Silent SNP C C G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 7 100678735 100678735 C G SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.4038 p.T1346 0.001 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 520 0 0.00 444 55 11.02 - - - MYH10 0 genome.wustl.edu 37 17 8417136 8417136 + Missense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 17 8417136 8417136 G A SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known missense c.2551 p.R851W 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 202 0 0.00 79 169 68.15 - - - MYLK 0 genome.wustl.edu 37 3 123456283 123456283 + Silent SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 3 123456283 123456283 C T SNP MYLK ENST00000360304 human ensembl 69_37n -1 known silent c.696 p.T232 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors MYLK HGNC ENSG00000065534 217 1 0.46 283 98 25.72 - - - NEDD9 0 genome.wustl.edu 37 6 11191331 11191331 + Silent SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 6 11191331 11191331 C T SNP NEDD9 ENST00000379446 human ensembl 69_37n -1 known silent c.771 p.P257 0.001 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 41 0 0.00 86 24 21.82 - - - NELL1 0 genome.wustl.edu 37 11 20699519 20699519 + Missense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 11 20699519 20699519 G A SNP NELL1 ENST00000357134 human ensembl 69_37n +1 known missense c.97 p.V33I 0.660 superfamily_ConA-like_lec_gl,smart_Laminin_G 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 NELL1 HGNC ENSG00000165973 118 0 0.00 133 48 26.52 - - - NUDCD2 0 genome.wustl.edu 37 5 162881017 162881017 + Missense_Mutation SNP T T A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 5 162881017 162881017 T A SNP NUDCD2 ENST00000302764 human ensembl 69_37n -1 known missense c.430 p.N144Y 1.000 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDCD2 HGNC ENSG00000170584 188 0 0.00 169 60 26.20 - - - OR11H12 0 genome.wustl.edu 37 14 19377728 19377728 + Silent SNP C C A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 14 19377728 19377728 C A SNP OR11H12 ENST00000550708 human ensembl 69_37n +1 known silent c.135 p.L45 0.982 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11H12 Clone_based_vega_gene ENSG00000257115 259 0 0.00 466 60 11.41 - - - OR11H12 0 genome.wustl.edu 37 14 19378227 19378227 + Silent SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 14 19378227 19378227 C T SNP OR11H12 ENST00000550708 human ensembl 69_37n +1 known silent c.634 p.L212 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 OR11H12 Clone_based_vega_gene ENSG00000257115 243 0 0.00 353 58 14.11 - - - OR11L1 0 genome.wustl.edu 37 1 248005132 248005132 + Missense_Mutation SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 248005132 248005132 A G SNP OR11L1 ENST00000355784 human ensembl 69_37n -1 known missense c.67 p.W23R 0.931 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11L1 HGNC ENSG00000197591 70 0 0.00 139 18 11.46 - - - OVGP1 0 genome.wustl.edu 37 1 111957196 111957196 + Missense_Mutation SNP C C A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 111957196 111957196 C A SNP OVGP1 ENST00000369732 human ensembl 69_37n -1 known missense c.1927 p.V643F 0.000 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 346 0 0.00 319 51 13.78 - - - PCNXL2 0 genome.wustl.edu 37 1 233120153 233120153 + Missense_Mutation SNP T T C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 233120153 233120153 T C SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.6311 p.E2104G 0.007 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 36 0 0.00 38 33 46.48 - - - PELI2 0 genome.wustl.edu 37 14 56763595 56763595 + Missense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 14 56763595 56763595 G A SNP PELI2 ENST00000267460 human ensembl 69_37n +1 known missense c.974 p.R325Q 1.000 pfam_Pellino pfam_Pellino - no_errors PELI2 HGNC ENSG00000139946 106 0 0.00 44 37 45.68 - - - PI3 0 genome.wustl.edu 37 20 43804746 43804746 + Silent SNP T T C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 20 43804746 43804746 T C SNP PI3 ENST00000243924 human ensembl 69_37n +1 known silent c.324 p.S108 0.009 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core pfam_Trappin_transglut-bd_rpt,pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core - no_errors PI3 HGNC ENSG00000124102 164 0 0.00 149 18 10.78 - - - PIK3CA 0 genome.wustl.edu 37 3 178941946 178941946 + Silent SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 3 178941946 178941946 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known silent c.2265 p.L755 0.890 superfamily_Kinase-like_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 106 0 0.00 168 36 17.65 - - - PIP5K1A 0 genome.wustl.edu 37 1 151215029 151215029 + Silent SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 151215029 151215029 A G SNP PIP5K1A ENST00000368888 human ensembl 69_37n +1 known silent c.1626 p.Q542 0.839 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 203 0 0.00 282 72 20.34 - - - PRDM14 0 genome.wustl.edu 37 8 70981496 70981496 + Silent SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 8 70981496 70981496 C T SNP PRDM14 ENST00000276594 human ensembl 69_37n -1 known silent c.600 p.E200 0.993 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 14 0 0.00 27 8 22.86 - - - PTPRD 0 genome.wustl.edu 37 9 8471045 8471045 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 9 8471045 8471045 C T SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known missense c.3454 p.G1152R 1.000 NULL 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 322 2 0.62 190 28 12.79 - - - PTPRT 0 genome.wustl.edu 37 20 40757458 40757458 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 20 40757458 40757458 C T SNP PTPRT ENST00000373198 human ensembl 69_37n -1 known missense c.2849 p.R950Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 89 0 0.00 68 23 25.00 - - - RSBN1 0 genome.wustl.edu 37 1 114308631 114308631 + Silent SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 114308631 114308631 G A SNP RSBN1 ENST00000261441 human ensembl 69_37n -1 known silent c.2380 p.L794 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 76 0 0.00 117 24 17.02 - - - SBF2 0 genome.wustl.edu 37 11 9875162 9875162 + Nonsense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 11 9875162 9875162 G A SNP SBF2 ENST00000256190 human ensembl 69_37n -1 known nonsense c.2461 p.R821* 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 291 0 0.00 201 174 46.28 - - - SDR16C5 0 genome.wustl.edu 37 8 57214113 57214113 + Nonsense_Mutation SNP C C A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 8 57214113 57214113 C A SNP SDR16C5 ENST00000303749 human ensembl 69_37n -1 known nonsense c.856 p.G286* 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC ENSG00000170786 204 0 0.00 721 111 13.33 - - - SLC13A4 0 genome.wustl.edu 37 7 135380224 135380224 + Missense_Mutation SNP G G T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 7 135380224 135380224 G T SNP SLC13A4 ENST00000354042 human ensembl 69_37n -1 known missense c.908 p.A303D 0.012 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 72 0 0.00 150 18 10.71 - - - SLC18A1 0 genome.wustl.edu 37 8 20008221 20008221 + Silent SNP G G T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 8 20008221 20008221 G T SNP SLC18A1 ENST00000276373 human ensembl 69_37n -1 known silent c.1050 p.L350 0.982 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 215 0 0.00 110 45 29.03 - - - SLC18A1 0 genome.wustl.edu 37 8 20022582 20022582 + Missense_Mutation SNP C C G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 8 20022582 20022582 C G SNP SLC18A1 ENST00000276373 human ensembl 69_37n -1 known missense c.895 p.D299H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 94 0 0.00 44 19 30.16 - - - SLC45A2 0 genome.wustl.edu 37 5 33984503 33984503 + Missense_Mutation SNP G G C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 5 33984503 33984503 G C SNP SLC45A2 ENST00000296589 human ensembl 69_37n -1 known missense c.186 p.S62R 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 61 0 0.00 86 21 19.63 - - - SLC4A4 0 genome.wustl.edu 37 4 72205191 72205191 + Missense_Mutation SNP G G T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 4 72205191 72205191 G T SNP SLC4A4 ENST00000425175 human ensembl 69_37n +1 known missense c.358 p.G120W 1.000 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 172 1 0.58 190 29 13.24 - - - SORBS3 0 genome.wustl.edu 37 8 22428702 22428703 + Frame_Shift_Ins INS - - C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 8 22428702 22428703 - C INS SORBS3 ENST00000240123 human ensembl 69_37n +1 known frame_shift_ins c.1711_1712 p.F571fs 0.181:0.014 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 10 0 0.00 4 2 33.33 - - - SPATA6 0 genome.wustl.edu 37 1 48764474 48764474 + Missense_Mutation SNP G G T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 48764474 48764474 G T SNP SPATA6 ENST00000371847 human ensembl 69_37n -1 known missense c.1378 p.P460T 1.000 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 393 0 0.00 263 109 29.30 - - - STAMBP 0 genome.wustl.edu 37 2 74058086 74058086 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 2 74058086 74058086 C T SNP STAMBP ENST00000339566 human ensembl 69_37n +1 known missense c.103 p.R35W 0.942 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors STAMBP HGNC ENSG00000124356 62 0 0.00 86 18 17.31 - - - STON1-GTF2A1L 0 genome.wustl.edu 37 2 48807847 48807847 + Missense_Mutation SNP G G T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 2 48807847 48807847 G T SNP STON1-GTF2A1L ENST00000309827 human ensembl 69_37n +1 known missense c.75 p.K25N 0.802 NULL pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 158 0 0.00 226 45 16.61 - - - T 0 genome.wustl.edu 37 6 166580202 166580202 + Missense_Mutation SNP G G T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 6 166580202 166580202 G T SNP T ENST00000296946 human ensembl 69_37n -1 known missense c.349 p.P117T 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box - no_errors T HGNC ENSG00000164458 18 0 0.00 14 5 26.32 - - - TAS1R1 0 genome.wustl.edu 37 1 6634970 6634970 + Missense_Mutation SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 6634970 6634970 A G SNP TAS1R1 ENST00000333172 human ensembl 69_37n +1 known missense c.778 p.M260V 0.892 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 16 0 0.00 20 16 44.44 - - - TBC1D9 0 genome.wustl.edu 37 4 141543579 141543579 + Missense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 4 141543579 141543579 G A SNP TBC1D9 ENST00000442267 human ensembl 69_37n -1 known missense c.3571 p.R1191W 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 43 0 0.00 39 6 13.33 - - - TCP10 0 genome.wustl.edu 37 6 167786750 167786750 + Missense_Mutation SNP C C A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 6 167786750 167786750 C A SNP TCP10 ENST00000397829 human ensembl 69_37n -1 known missense c.888 p.K296N 0.000 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 29 0 0.00 46 7 13.21 - - - TGFBI 0 genome.wustl.edu 37 5 135391372 135391372 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 5 135391372 135391372 C T SNP TGFBI ENST00000305126 human ensembl 69_37n +1 known missense c.1414 p.L472F 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 25 0 0.00 19 6 24.00 - - - TLN1 0 genome.wustl.edu 37 9 35722177 35722177 + Missense_Mutation SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 9 35722177 35722177 A G SNP TLN1 ENST00000314888 human ensembl 69_37n -1 known missense c.887 p.V296A 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 82 0 0.00 163 46 22.01 - - - TLR7 0 genome.wustl.edu 37 X 12904335 12904335 + Missense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 X 12904335 12904335 G A SNP TLR7 ENST00000380659 human ensembl 69_37n +1 known missense c.708 p.M236I 0.593 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 432 0 0.00 326 50 13.26 - - - TPTE 0 genome.wustl.edu 37 21 10909699 10909699 + Missense_Mutation SNP G G C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 21 10909699 10909699 G C SNP TPTE ENST00000341326 human ensembl 69_37n -1 known missense c.919 p.L307V 0.014 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ - no_start_codon TPTE HGNC ENSG00000166157 292 0 0.00 251 142 36.13 - - - TRIM51 0 genome.wustl.edu 37 11 55658869 55658869 + Missense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 11 55658869 55658869 G A SNP TRIM51 ENST00000449290 human ensembl 69_37n +1 known missense c.1120 p.E374K 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 309 0 0.00 488 67 12.07 - - - TRPM8 0 genome.wustl.edu 37 2 234835246 234835246 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 2 234835246 234835246 C T SNP TRPM8 ENST00000324695 human ensembl 69_37n +1 known missense c.64 p.R22W 0.944 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 150 0 0.00 157 20 11.30 - - - TSSK1B 0 genome.wustl.edu 37 5 112769486 112769486 + Missense_Mutation SNP T T C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 5 112769486 112769486 T C SNP TSSK1B ENST00000390666 human ensembl 69_37n -1 known missense c.1051 p.M351V 0.000 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 28 0 0.00 36 6 14.29 - - - TTN 0 genome.wustl.edu 37 2 179481483 179481483 + Missense_Mutation SNP A A T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 2 179481483 179481483 A T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.40429 p.S13477T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 437 0 0.00 358 65 15.37 - - - TTYH2 0 genome.wustl.edu 37 17 72249264 72249264 + Missense_Mutation SNP C C A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 17 72249264 72249264 C A SNP TTYH2 ENST00000269346 human ensembl 69_37n +1 known missense c.1304 p.P435H 1.000 NULL pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 95 0 0.00 98 41 29.50 - - - TUBA3D 0 genome.wustl.edu 37 2 132237643 132237643 + Missense_Mutation SNP C C T TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 2 132237643 132237643 C T SNP TUBA3D ENST00000321253 human ensembl 69_37n +1 known missense c.377 p.A126V 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 22 0 0.00 43 17 28.33 - - - UGT1A6 0 genome.wustl.edu 37 2 234601870 234601870 + Missense_Mutation SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 2 234601870 234601870 A G SNP UGT1A6 ENST00000305139 human ensembl 69_37n +1 known missense c.220 p.T74A 0.409 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC ENSG00000167165 229 0 0.00 186 26 12.26 - - - WAS 0 genome.wustl.edu 37 X 48542728 48542728 + Missense_Mutation SNP C C G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 X 48542728 48542728 C G SNP WAS ENST00000376701 human ensembl 69_37n +1 known missense c.189 p.H63Q 0.992 pfam_EVH1,smart_EVH1,pfscan_EVH1 pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WAS HGNC ENSG00000015285 22 0 0.00 20 42 67.74 - - - XIRP2 0 genome.wustl.edu 37 2 168074694 168074694 + Missense_Mutation SNP A A G TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 2 168074694 168074694 A G SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.742 p.M248V 0.834 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 197 0 0.00 161 31 16.15 - - - ZCCHC18 0 genome.wustl.edu 37 X 103359682 103359682 + RNA SNP G G C TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 X 103359682 103359682 G C SNP ZCCHC18 ENST00000537356 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ZCCHC18 HGNC ENSG00000166707 56 0 0.00 54 16 22.86 - - - ZNF644 0 genome.wustl.edu 37 1 91406699 91406699 + Missense_Mutation SNP G G A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 91406699 91406699 G A SNP ZNF644 ENST00000337393 human ensembl 69_37n -1 known missense c.212 p.T71M 0.964 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 181 0 0.00 135 62 31.47 - - - ZZZ3 0 genome.wustl.edu 37 1 78031328 78031328 + Missense_Mutation SNP T T A TCGA-A8-A09Q-01A-11W-A019-09 TCGA-A8-A09Q-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 51a8ac83-bafa-4df7-a52d-a1e1fb45799d c8f39b5b-9f03-44d5-99c4-23d0090e45d2 1 78031328 78031328 T A SNP ZZZ3 ENST00000370801 human ensembl 69_37n -1 known missense c.2709 p.R903S 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 72 0 0.00 58 10 14.71 - - -