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 ASCC2 0 genome.wustl.edu 37 22 30197090 30197090 + Silent SNP T T C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 22 30197090 30197090 T C SNP ASCC2 ENST00000307790 human ensembl 69_37n -1 known silent c.1578 p.K526 0.991 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 253 0 0.00 274 42 13.00 - - - ATG2B 0 genome.wustl.edu 37 14 96809459 96809459 + Silent SNP T T G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 14 96809459 96809459 T G SNP ATG2B ENST00000359933 human ensembl 69_37n -1 known silent c.741 p.P247 0.997 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 411 1 0.24 183 113 38.18 - - - ATRX 0 genome.wustl.edu 37 X 76938781 76938781 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa X 76938781 76938781 G A SNP ATRX ENST00000373344 human ensembl 69_37n -1 known missense c.1967 p.S656F 0.998 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 171 0 0.00 126 64 33.51 - - - BNC2 0 genome.wustl.edu 37 9 16436220 16436220 + Missense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 9 16436220 16436220 C T SNP BNC2 ENST00000380672 human ensembl 69_37n -1 known missense c.1972 p.D658N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 450 0 0.00 147 45 23.44 - - - C2orf71 0 genome.wustl.edu 37 2 29296696 29296696 + Silent SNP T T C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 2 29296696 29296696 T C SNP C2orf71 ENST00000331664 human ensembl 69_37n -1 novel silent c.432 p.K144 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 852 0 0.00 452 93 17.06 - - - C3 0 genome.wustl.edu 37 19 6718310 6718310 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 19 6718310 6718310 G A SNP C3 ENST00000245907 human ensembl 69_37n -1 known silent c.381 p.S127 0.604 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 123 0 0.00 101 20 16.53 - - - CAND1 0 genome.wustl.edu 37 12 67686481 67686481 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 12 67686481 67686481 G A SNP CAND1 ENST00000299218 human ensembl 69_37n +1 known missense c.292 p.D98N 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 352 0 0.00 250 30 10.71 - - - CBWD1 0 genome.wustl.edu 37 9 156515 156515 + Missense_Mutation SNP C C G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 9 156515 156515 C G SNP CBWD1 ENST00000356521 human ensembl 69_37n -1 known missense c.541 p.E181Q 1.000 pfam_Cbl_biosynth_CobW-like pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 700 0 0.00 272 106 28.04 - - - CCDC111 0 genome.wustl.edu 37 4 185606574 185606574 + Missense_Mutation SNP G G C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 4 185606574 185606574 G C SNP CCDC111 ENST00000314970 human ensembl 69_37n +1 known missense c.1108 p.E370Q 0.992 NULL pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S - no_errors CCDC111 HGNC ENSG00000164306 1011 0 0.00 740 112 13.13 - - - CEP78 0 genome.wustl.edu 37 9 80880403 80880403 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 9 80880403 80880403 G A SNP CEP78 ENST00000376597 human ensembl 69_37n +1 known missense c.1744 p.E582K 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 345 0 0.00 322 54 14.36 - - - CERK 0 genome.wustl.edu 37 22 47095261 47095263 + In_Frame_Del DEL TGA TGA - TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 22 47095261 47095263 TGA - DEL CERK ENST00000216264 human ensembl 69_37n -1 known in_frame_del c.892_890 p.I297in_frame_del 0.999:0.998:1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 211 0 0.00 185 43 18.78 - - - CES5A 0 genome.wustl.edu 37 16 55907861 55907861 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 16 55907861 55907861 C T SNP CES5A ENST00000521992 human ensembl 69_37n -1 known silent c.249 p.V83 0.757 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 129 0 0.00 59 13 18.06 - - - CFTR 0 genome.wustl.edu 37 7 117306992 117306992 + Missense_Mutation SNP G G T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 7 117306992 117306992 G T SNP CFTR ENST00000003084 human ensembl 69_37n +1 known missense c.4273 p.D1425Y 0.998 pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 93 0 0.00 57 9 13.64 - - - CLCN5 0 genome.wustl.edu 37 X 49853534 49853534 + Silent SNP C C G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa X 49853534 49853534 C G SNP CLCN5 ENST00000376088 human ensembl 69_37n +1 known silent c.1737 p.A579 0.999 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 202 0 0.00 188 26 12.15 - - - CNTNAP3B 0 genome.wustl.edu 37 9 43844193 43844193 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 9 43844193 43844193 G A SNP CNTNAP3B ENST00000377561 human ensembl 69_37n +1 known missense c.1673 p.G558D 0.004 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CNTNAP3B HGNC ENSG00000154529 21 0 0.00 12 3 20.00 - - - CTNNA1 0 genome.wustl.edu 37 5 138260325 138260325 + Missense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 5 138260325 138260325 C T SNP CTNNA1 ENST00000302763 human ensembl 69_37n +1 known missense c.1673 p.S558L 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 118 0 0.00 76 13 14.61 - - - CYP2S1 0 genome.wustl.edu 37 19 41707218 41707218 + Missense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 19 41707218 41707218 C T SNP CYP2S1 ENST00000310054 human ensembl 69_37n +1 known missense c.917 p.T306M 0.738 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 193 0 0.00 144 33 18.64 - - - CYP7B1 0 genome.wustl.edu 37 8 65509394 65509394 + Frame_Shift_Del DEL A A - TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 8 65509394 65509394 A - DEL CYP7B1 ENST00000310193 human ensembl 69_37n -1 known frame_shift_del c.1326 p.F442fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 141 0 0.00 230 30 11.49 - - - DAB2IP 0 genome.wustl.edu 37 9 124528856 124528856 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 9 124528856 124528856 G A SNP DAB2IP ENST00000408936 human ensembl 69_37n +1 known missense c.1544 p.R515Q 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 65 0 0.00 41 10 19.61 - - - DAPK1 0 genome.wustl.edu 37 9 90322160 90322160 + Missense_Mutation SNP T T A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 9 90322160 90322160 T A SNP DAPK1 ENST00000469640 human ensembl 69_37n +1 known missense c.4249 p.L1417M 0.255 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 65 0 0.00 25 7 21.88 - - - DNAJC5 0 genome.wustl.edu 37 20 62560669 62560669 + Missense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 20 62560669 62560669 C T SNP DNAJC5 ENST00000360864 human ensembl 69_37n +1 known missense c.112 p.L38F 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC5 HGNC ENSG00000101152 82 0 0.00 121 31 20.39 - - - EIF4G1 0 genome.wustl.edu 37 3 184035137 184035137 + Missense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 3 184035137 184035137 C T SNP EIF4G1 ENST00000352767 human ensembl 69_37n +1 known missense c.197 p.P66L 0.998 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 77 0 0.00 60 22 26.83 - - - EP300 0 genome.wustl.edu 37 22 41489026 41489026 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 22 41489026 41489026 G A SNP EP300 ENST00000263253 human ensembl 69_37n +1 known silent c.18 p.V6 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 52 0 0.00 72 8 10.00 - - - EPHB2 0 genome.wustl.edu 37 1 23111019 23111019 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 1 23111019 23111019 C T SNP EPHB2 ENST00000400191 human ensembl 69_37n +1 known silent c.261 p.H87 0.971 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 90 0 0.00 50 13 20.63 - - - ERP29 0 genome.wustl.edu 37 12 112457615 112457615 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 12 112457615 112457615 G A SNP ERP29 ENST00000261735 human ensembl 69_37n +1 known missense c.200 p.G67D 1.000 pfam_ERp29_N,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 239 0 0.00 186 37 16.59 - - - FAM155A 0 genome.wustl.edu 37 13 107822931 107822931 + Missense_Mutation SNP G G C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 13 107822931 107822931 G C SNP FAM155A ENST00000375915 human ensembl 69_37n -1 known missense c.1291 p.L431V 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 355 0 0.00 122 65 34.57 - - - FAM192A 0 genome.wustl.edu 37 16 57188374 57188374 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 16 57188374 57188374 G A SNP FAM192A ENST00000309137 human ensembl 69_37n -1 known missense c.593 p.P198L 0.852 NULL pfam_Nefa_Nip30_N - no_errors FAM192A HGNC ENSG00000172775 109 0 0.00 80 18 18.37 - - - FAM5B 0 genome.wustl.edu 37 1 177199234 177199234 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 1 177199234 177199234 C T SNP FAM5B ENST00000361539 human ensembl 69_37n +1 known silent c.222 p.F74 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC ENSG00000198797 26 0 0.00 31 6 16.22 - - - FAM98B 0 genome.wustl.edu 37 15 38757568 38757568 + Missense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 15 38757568 38757568 C T SNP FAM98B ENST00000397609 human ensembl 69_37n +1 known missense c.316 p.R106C 0.958 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98B HGNC ENSG00000171262 248 0 0.00 123 49 28.49 - - - FCGRT 0 genome.wustl.edu 37 19 50017360 50017360 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 19 50017360 50017360 C T SNP FCGRT ENST00000221466 human ensembl 69_37n +1 known silent c.295 p.L99 0.002 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors FCGRT HGNC ENSG00000104870 108 0 0.00 86 13 13.13 - - - FLNA 0 genome.wustl.edu 37 X 153580968 153580968 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa X 153580968 153580968 G A SNP FLNA ENST00000369850 human ensembl 69_37n -1 known missense c.6455 p.S2152L 0.997 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 65 0 0.00 50 9 15.25 - - - GAL 0 genome.wustl.edu 37 11 68458384 68458384 + Splice_Site SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 11 68458384 68458384 G A SNP GAL ENST00000265643 human ensembl 69_37n +1 known splice_site c.302-1 e5-1 0.991 - - - no_errors GAL HGNC ENSG00000069482 91 0 0.00 80 11 12.09 - - - GJA10 0 genome.wustl.edu 37 6 90604284 90604284 + Nonsense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 6 90604284 90604284 C T SNP GJA10 ENST00000369352 human ensembl 69_37n +1 known nonsense c.97 p.R33* 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 277 1 0.36 99 37 27.21 - - - GOLGA3 0 genome.wustl.edu 37 12 133351861 133351861 + Nonsense_Mutation SNP C C A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 12 133351861 133351861 C A SNP GOLGA3 ENST00000204726 human ensembl 69_37n -1 known nonsense c.4009 p.E1337* 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 258 0 0.00 169 29 14.65 - - - GPR143 0 genome.wustl.edu 37 X 9714090 9714090 + Missense_Mutation SNP T T A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa X 9714090 9714090 T A SNP GPR143 ENST00000380929 human ensembl 69_37n -1 known missense c.712 p.T238S 0.002 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 171 0 0.00 97 15 13.27 - - - GRIA4 0 genome.wustl.edu 37 11 105481745 105481745 + Missense_Mutation SNP G G C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 11 105481745 105481745 G C SNP GRIA4 ENST00000282499 human ensembl 69_37n +1 known missense c.21 p.Q7H 1.000 NULL 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 GRIA4 HGNC ENSG00000152578 374 0 0.00 444 53 10.66 - - - GTF2H2B 0 genome.wustl.edu 37 5 69718708 69718708 + RNA SNP A A G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 5 69718708 69718708 A G SNP GTF2H2B ENST00000504712 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors GTF2H2B HGNC ENSG00000226259 393 0 0.00 157 171 52.13 - - - IGLC7 0 genome.wustl.edu 37 22 23264914 23264914 + Missense_Mutation SNP G G T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 22 23264914 23264914 G T SNP IGLC7 ENST00000390331 human ensembl 69_37n +1 known missense c.149 p.R50M 0.002 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGLC7 HGNC ENSG00000211685 226 0 0.00 174 26 13.00 - - - IRAK2 0 genome.wustl.edu 37 3 10251290 10251290 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 3 10251290 10251290 G A SNP IRAK2 ENST00000256458 human ensembl 69_37n +1 known missense c.442 p.A148T 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK2 HGNC ENSG00000134070 126 0 0.00 109 19 14.62 - - - KBTBD10 0 genome.wustl.edu 37 2 170366479 170366479 + Missense_Mutation SNP C C G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 2 170366479 170366479 C G SNP KBTBD10 ENST00000284669 human ensembl 69_37n +1 known missense c.191 p.S64C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD10 HGNC ENSG00000239474 442 0 0.00 325 59 15.36 - - - KCNAB2 0 genome.wustl.edu 37 1 6157368 6157369 + Frame_Shift_Ins INS - - G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 1 6157368 6157369 - G INS KCNAB2 ENST00000378083 human ensembl 69_37n +1 known frame_shift_ins c.1109_1110 p.A372fs 1.000:1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 138 0 0.00 59 11 15.71 - - - KCNH7 0 genome.wustl.edu 37 2 163291915 163291915 + Missense_Mutation SNP C C A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 2 163291915 163291915 C A SNP KCNH7 ENST00000332142 human ensembl 69_37n -1 known missense c.1747 p.D583Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 434 0 0.00 305 44 12.61 - - - KIAA0391 0 genome.wustl.edu 37 14 35742701 35742701 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 14 35742701 35742701 G A SNP KIAA0391 ENST00000534898 human ensembl 69_37n +1 known missense c.1681 p.D561N 1.000 NULL NULL - no_errors RP11-173D9.3 Clone_based_vega_gene ENSG00000100890 246 0 0.00 173 22 11.28 - - - KIF20B 0 genome.wustl.edu 37 10 91497970 91497970 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 10 91497970 91497970 G A SNP KIF20B ENST00000416354 human ensembl 69_37n +1 known silent c.3462 p.L1154 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 71 0 0.00 58 9 13.43 - - - LCA5L 0 genome.wustl.edu 37 21 40795105 40795105 + Nonsense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 21 40795105 40795105 G A SNP LCA5L ENST00000288350 human ensembl 69_37n -1 known nonsense c.634 p.Q212* 0.926 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 694 0 0.00 659 103 13.46 - - - LGALS4 0 genome.wustl.edu 37 19 39292707 39292707 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 19 39292707 39292707 G A SNP LGALS4 ENST00000307751 human ensembl 69_37n -1 known silent c.750 p.S250 0.919 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS4 HGNC ENSG00000171747 198 0 0.00 93 64 40.76 - - - LRTM1 0 genome.wustl.edu 37 3 54959016 54959016 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 3 54959016 54959016 G A SNP LRTM1 ENST00000273286 human ensembl 69_37n -1 known silent c.234 p.T78 0.966 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 222 0 0.00 210 26 10.97 - - - MCF2L 0 genome.wustl.edu 37 13 113699676 113699676 + Splice_Site SNP G G T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 13 113699676 113699676 G T SNP MCF2L ENST00000375604 human ensembl 69_37n +1 known splice_site c.540+1 e4+1 0.998 - - - no_errors MCF2L HGNC ENSG00000126217 33 0 0.00 3 15 83.33 - - - MED13 0 genome.wustl.edu 37 17 60040309 60040309 + Missense_Mutation SNP C C G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 17 60040309 60040309 C G SNP MED13 ENST00000397786 human ensembl 69_37n -1 known missense c.4868 p.G1623A 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 225 1 0.44 164 27 14.14 - - - MKI67 0 genome.wustl.edu 37 10 129913245 129913245 + Missense_Mutation SNP G G C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 10 129913245 129913245 G C SNP MKI67 ENST00000368654 human ensembl 69_37n -1 known missense c.1427 p.S476C 0.039 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 190 0 0.00 140 28 16.67 - - - MLL 0 genome.wustl.edu 37 11 118375784 118375784 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 11 118375784 118375784 G A SNP MLL ENST00000389506 human ensembl 69_37n +1 known silent c.9168 p.P3056 0.291 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 156 1 0.64 104 102 49.51 - - - MON1A 0 genome.wustl.edu 37 3 49947969 49947969 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 3 49947969 49947969 G A SNP MON1A ENST00000296473 human ensembl 69_37n -1 known missense c.1253 p.S418F 1.000 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1A HGNC ENSG00000164077 37 0 0.00 31 7 17.95 - - - MRE11A 0 genome.wustl.edu 37 11 94192723 94192723 + Missense_Mutation SNP C C G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 11 94192723 94192723 C G SNP MRE11A ENST00000323929 human ensembl 69_37n -1 known missense c.1351 p.E451Q 1.000 pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 740 2 0.27 459 405 46.82 - - - MYO10 0 genome.wustl.edu 37 5 16711286 16711286 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 5 16711286 16711286 C T SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known silent c.1998 p.V666 0.999 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 139 0 0.00 101 13 11.30 - - - NR3C2 0 genome.wustl.edu 37 4 149075853 149075853 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 4 149075853 149075853 G A SNP NR3C2 ENST00000355292 human ensembl 69_37n -1 known silent c.2226 p.P742 0.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 425 0 0.00 138 49 26.06 - - - NR4A1 0 genome.wustl.edu 37 12 52448796 52448796 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 12 52448796 52448796 G A SNP NR4A1 ENST00000545748 human ensembl 69_37n +1 known silent c.846 p.T282 0.000 prints_Nuc_orp_HMR_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 85 0 0.00 57 14 19.72 - - - NRBP1 0 genome.wustl.edu 37 2 27663559 27663559 + Missense_Mutation SNP G G C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 2 27663559 27663559 G C SNP NRBP1 ENST00000233557 human ensembl 69_37n +1 known missense c.1183 p.E395Q 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 NRBP1 HGNC ENSG00000115216 458 0 0.00 324 70 17.77 - - - NRP2 0 genome.wustl.edu 37 2 206608200 206608200 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 2 206608200 206608200 G A SNP NRP2 ENST00000360409 human ensembl 69_37n +1 known missense c.1565 p.R522H 1.000 pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 135 0 0.00 113 21 15.67 - - - OR4F17 0 genome.wustl.edu 37 19 110858 110858 + Silent SNP A A G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 19 110858 110858 A G SNP OR4F17 ENST00000318050 human ensembl 69_37n +1 known silent c.180 p.S60 0.074 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4F17 HGNC ENSG00000176695 88 0 0.00 12 3 20.00 - - - PAPSS1 0 genome.wustl.edu 37 4 108578129 108578129 + Missense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 4 108578129 108578129 C T SNP PAPSS1 ENST00000265174 human ensembl 69_37n -1 known missense c.818 p.G273D 1.000 superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS1 HGNC ENSG00000138801 391 0 0.00 179 37 17.05 - - - PCDH11X 0 genome.wustl.edu 37 X 91134233 91134233 + Silent SNP G G T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa X 91134233 91134233 G T SNP PCDH11X ENST00000373094 human ensembl 69_37n +1 known silent c.2994 p.V998 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 438 0 0.00 343 123 26.39 - - - PCDHB1 0 genome.wustl.edu 37 5 140433272 140433272 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 5 140433272 140433272 C T SNP PCDHB1 ENST00000306549 human ensembl 69_37n +1 known silent c.2217 p.N739 0.126 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 371 0 0.00 197 107 35.08 - - - PCDHB6 0 genome.wustl.edu 37 5 140530673 140530673 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 5 140530673 140530673 G A SNP PCDHB6 ENST00000231136 human ensembl 69_37n +1 known missense c.835 p.A279T 0.001 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 PCDHB6 HGNC ENSG00000113211 165 0 0.00 153 27 14.92 - - - PI4KA 0 genome.wustl.edu 37 22 21096566 21096566 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 22 21096566 21096566 G A SNP PI4KA ENST00000255882 human ensembl 69_37n -1 known silent c.3691 p.L1231 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 120 0 0.00 94 19 16.67 - - - PLCG1 0 genome.wustl.edu 37 20 39793935 39793935 + Missense_Mutation SNP G G T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 20 39793935 39793935 G T SNP PLCG1 ENST00000244007 human ensembl 69_37n +1 known missense c.1437 p.M479I 0.774 superfamily_PLC-like_Pdiesterase_TIM-brl,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 148 0 0.00 129 24 15.69 - - - POLE 0 genome.wustl.edu 37 12 133220066 133220066 + Silent SNP G G C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 12 133220066 133220066 G C SNP POLE ENST00000455752 human ensembl 69_37n -1 known silent c.4404 p.G1468 1.000 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 109 0 0.00 68 11 13.92 - - - POTEE 0 genome.wustl.edu 37 2 132022031 132022031 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 2 132022031 132022031 C T SNP POTEE ENST00000356920 human ensembl 69_37n +1 known silent c.3003 p.G1001 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors AC131180.1 Clone_based_ensembl_gene ENSG00000188219 11 0 0.00 4 8 66.67 - - - RAB3C 0 genome.wustl.edu 37 5 58021869 58021869 + Missense_Mutation SNP C C A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 5 58021869 58021869 C A SNP RAB3C ENST00000282878 human ensembl 69_37n +1 known missense c.293 p.A98D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3C HGNC ENSG00000152932 364 0 0.00 328 55 14.36 - - - RBM34 0 genome.wustl.edu 37 1 235301419 235301419 + Nonsense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 1 235301419 235301419 G A SNP RBM34 ENST00000408888 human ensembl 69_37n -1 known nonsense c.772 p.Q258* 0.006 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 421 1 0.24 488 64 11.59 - - - RGAG1 0 genome.wustl.edu 37 X 109695584 109695584 + Missense_Mutation SNP T T C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa X 109695584 109695584 T C SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.1739 p.M580T 0.093 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 216 1 0.46 109 74 40.22 - - - RPL31P11 0 genome.wustl.edu 37 1 161654572 161654572 + RNA DEL T T - TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 1 161654572 161654572 T - DEL RPL31P11 ENST00000426558 human ensembl 69_37n -1 known rna NULL NULL 0.150 - - - no_errors RPL31P11 HGNC ENSG00000213075 19 0 0.00 34 4 10.53 - - - SACS 0 genome.wustl.edu 37 13 23905513 23905513 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 13 23905513 23905513 G A SNP SACS ENST00000382292 human ensembl 69_37n -1 known silent c.12502 p.L4168 0.997 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 351 0 0.00 145 44 23.28 - - - SHC1 0 genome.wustl.edu 37 1 154938529 154938529 + Missense_Mutation SNP G G C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 1 154938529 154938529 G C SNP SHC1 ENST00000448116 human ensembl 69_37n -1 known missense c.1280 p.S427C 1.000 NULL pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 140 0 0.00 137 17 11.04 - - - SIRT1 0 genome.wustl.edu 37 10 69672725 69672725 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 10 69672725 69672725 G A SNP SIRT1 ENST00000212015 human ensembl 69_37n +1 known missense c.1852 p.G618R 1.000 NULL pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin - no_errors SIRT1 HGNC ENSG00000096717 266 0 0.00 223 92 29.21 - - - SMARCD3 0 genome.wustl.edu 37 7 150937577 150937577 + Missense_Mutation SNP T T C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 7 150937577 150937577 T C SNP SMARCD3 ENST00000262188 human ensembl 69_37n -1 known missense c.971 p.E324G 1.000 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 456 0 0.00 218 52 19.26 - - - SPANXN5 0 genome.wustl.edu 37 X 52825543 52825543 + Missense_Mutation SNP C C G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa X 52825543 52825543 C G SNP SPANXN5 ENST00000375511 human ensembl 69_37n -1 known missense c.204 p.E68D 0.140 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN5 HGNC ENSG00000204363 1165 0 0.00 803 143 15.12 - - - SPARCL1 0 genome.wustl.edu 37 4 88415533 88415533 + Missense_Mutation SNP A A G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 4 88415533 88415533 A G SNP SPARCL1 ENST00000282470 human ensembl 69_37n -1 known missense c.419 p.F140S 0.004 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 569 0 0.00 257 89 25.72 - - - SREBF2 0 genome.wustl.edu 37 22 42271676 42271676 + Missense_Mutation SNP C C G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 22 42271676 42271676 C G SNP SREBF2 ENST00000361204 human ensembl 69_37n +1 known missense c.1334 p.S445C 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SREBF2 HGNC ENSG00000198911 144 0 0.00 146 20 11.98 - - - SRRM4 0 genome.wustl.edu 37 12 119419693 119419693 + Silent SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 12 119419693 119419693 G A SNP SRRM4 ENST00000267260 human ensembl 69_37n +1 known silent c.6 p.A2 0.977 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 57 0 0.00 28 11 27.50 - - - STAG1 0 genome.wustl.edu 37 3 136062775 136062775 + Silent SNP T T C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 3 136062775 136062775 T C SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known silent c.3345 p.P1115 0.961 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 255 0 0.00 250 30 10.64 - - - STAG1 0 genome.wustl.edu 37 3 136076644 136076644 + Missense_Mutation SNP C C G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 3 136076644 136076644 C G SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.2983 p.E995Q 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 472 0 0.00 482 57 10.58 - - - THRA 0 genome.wustl.edu 37 17 38233180 38233180 + Frame_Shift_Del DEL C C - TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 17 38233180 38233180 C - DEL THRA ENST00000264637 human ensembl 69_37n +1 known frame_shift_del c.110 p.S38fs 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 186 0 0.00 103 44 29.33 - - - TMCO7 0 genome.wustl.edu 37 16 68943146 68943147 + Frame_Shift_Del DEL AG AG - TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 16 68943146 68943147 AG - DEL TMCO7 ENST00000261778 human ensembl 69_37n +1 known frame_shift_del c.1833_1834 p.E612fs 0.996:0.996 superfamily_ARM-type_fold pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC ENSG00000103047 252 0 0.00 170 24 12.37 - - - TNN 0 genome.wustl.edu 37 1 175096180 175096180 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 1 175096180 175096180 G A SNP TNN ENST00000239462 human ensembl 69_37n +1 known missense c.3004 p.G1002S 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 427 0 0.00 427 70 14.06 - - - TP53 0 genome.wustl.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 17 7577082 7577082 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.856 p.E286K 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 271 0 0.00 35 26 42.62 - - - TSPYL2 0 genome.wustl.edu 37 X 53113974 53113974 + Missense_Mutation SNP T T C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa X 53113974 53113974 T C SNP TSPYL2 ENST00000375442 human ensembl 69_37n +1 known missense c.923 p.M308T 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 295 0 0.00 232 30 11.32 - - - TUBB4A 0 genome.wustl.edu 37 19 6495820 6495820 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 19 6495820 6495820 C T SNP TUBB4A ENST00000264071 human ensembl 69_37n -1 known silent c.690 p.S230 0.912 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 86 0 0.00 66 15 18.29 - - - USP9X 0 genome.wustl.edu 37 X 41048627 41048627 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa X 41048627 41048627 G A SNP USP9X ENST00000324545 human ensembl 69_37n +1 known missense c.3876 p.M1292I 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 685 0 0.00 694 82 10.55 - - - VWF 0 genome.wustl.edu 37 12 6091108 6091108 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 12 6091108 6091108 C T SNP VWF ENST00000261405 human ensembl 69_37n -1 known silent c.7131 p.P2377 0.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 91 0 0.00 48 11 18.64 - - - WBSCR17 0 genome.wustl.edu 37 7 70886058 70886058 + Nonsense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 7 70886058 70886058 G A SNP WBSCR17 ENST00000333538 human ensembl 69_37n +1 known nonsense c.929 p.W310* 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 88 0 0.00 18 39 68.42 - - - WDR7 0 genome.wustl.edu 37 18 54350050 54350050 + Silent SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 18 54350050 54350050 C T SNP WDR7 ENST00000254442 human ensembl 69_37n +1 known silent c.486 p.S162 1.000 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 186 0 0.00 91 20 18.02 - - - ZFC3H1 0 genome.wustl.edu 37 12 72013172 72013172 + Silent SNP A A G TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 12 72013172 72013172 A G SNP ZFC3H1 ENST00000378743 human ensembl 69_37n -1 known silent c.5067 p.L1689 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 233 0 0.00 179 36 16.74 - - - ZFP3 0 genome.wustl.edu 37 17 4996237 4996237 + Nonsense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 17 4996237 4996237 C T SNP ZFP3 ENST00000318833 human ensembl 69_37n +1 known nonsense c.1438 p.Q480* 0.069 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP3 HGNC ENSG00000180787 204 0 0.00 126 33 20.75 - - - ZNF217 0 genome.wustl.edu 37 20 52198134 52198134 + Missense_Mutation SNP G G A TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 20 52198134 52198134 G A SNP ZNF217 ENST00000302342 human ensembl 69_37n -1 known missense c.1232 p.S411F 0.064 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 65 0 0.00 85 29 25.44 - - - ZNF3 0 genome.wustl.edu 37 7 99662436 99662436 + Missense_Mutation SNP C C T TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 7 99662436 99662436 C T SNP ZNF3 ENST00000413658 human ensembl 69_37n -1 known missense c.371 p.S124N 0.004 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF3 HGNC ENSG00000166526 163 0 0.00 101 36 26.09 - - - ZZEF1 0 genome.wustl.edu 37 17 3961435 3961435 + Missense_Mutation SNP G G C TCGA-BH-A18U-01A-21D-A12B-09 TCGA-BH-A18U-11A-23D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8400863-c145-4c6c-bcf3-e4cc4d816d22 f0d1235d-8fc6-4849-8506-9d8dce2eabaa 17 3961435 3961435 G C SNP ZZEF1 ENST00000381638 human ensembl 69_37n -1 known missense c.5018 p.A1673G 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 215 0 0.00 103 24 18.75 - - -