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 ABAT 0 genome.wustl.edu 37 16 8858630 8858630 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 8858630 8858630 G T SNP ABAT ENST00000268251 human ensembl 69_37n +1 known missense c.483 p.M161I 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk - no_errors ABAT HGNC ENSG00000183044 108 0 0.00 43 5 10.42 - - - ABCA11P 0 genome.wustl.edu 37 4 420491 420491 + RNA SNP C C A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 4 420491 420491 C A SNP ABCA11P ENST00000451020 human ensembl 69_37n -1 known rna NULL NULL 0.996 - - - no_errors ABCA11P HGNC ENSG00000251595 159 0 0.00 85 37 30.33 - - - ABCA11P 0 genome.wustl.edu 37 4 420491 420491 + RNA SNP C C A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 4 420491 420491 C A SNP ABCA11P ENST00000451020 human ensembl 69_37n -1 known rna NULL NULL 0.996 - - - no_errors ABCA11P HGNC ENSG00000251595 108 0 0.00 66 33 33.33 - - - ABCA11P 0 genome.wustl.edu 37 4 420491 420491 + RNA SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 4 420491 420491 C A SNP ABCA11P ENST00000451020 human ensembl 69_37n -1 known rna NULL NULL 0.996 - - - no_errors ABCA11P HGNC ENSG00000251595 108 0 0.00 61 25 29.07 - - - ABCA8 0 genome.wustl.edu 37 17 66871785 66871785 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 17 66871785 66871785 C T SNP ABCA8 ENST00000430352 human ensembl 69_37n -1 known missense c.4460 p.R1487Q 0.997 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 61 0 0.00 41 5 10.87 - - - ABCA8 0 genome.wustl.edu 37 17 66871785 66871785 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 66871785 66871785 C T SNP ABCA8 ENST00000430352 human ensembl 69_37n -1 known missense c.4460 p.R1487Q 0.997 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 87 0 0.00 46 19 29.23 - - - ABCA8 0 genome.wustl.edu 37 17 66871785 66871785 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 66871785 66871785 C T SNP ABCA8 ENST00000430352 human ensembl 69_37n -1 known missense c.4460 p.R1487Q 0.997 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 87 0 0.00 29 15 34.09 - - - ABCC1 0 genome.wustl.edu 37 16 16165583 16165583 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 16165583 16165583 G T SNP ABCC1 ENST00000399408 human ensembl 69_37n +1 known missense c.1909 p.D637Y 0.709 tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 64 0 0.00 31 4 11.43 - - - ABCC3 0 genome.wustl.edu 37 17 48753778 48753779 + Frame_Shift_Del DEL GA GA - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 48753778 48753779 GA - DEL ABCC3 ENST00000285238 human ensembl 69_37n +1 known frame_shift_del c.3207_3208 p.N1070fs 1.000:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 70 0 0.00 16 2 10.53 - - - ACACA 0 genome.wustl.edu 37 17 35486354 35486354 + Nonsense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 35486354 35486354 C A SNP ACACA ENST00000353139 human ensembl 69_37n -1 known nonsense c.5881 p.E1961* 0.948 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 48 0 0.00 16 3 15.79 - - - ADAD2 0 genome.wustl.edu 37 16 84228721 84228721 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 84228721 84228721 C A SNP ADAD2 ENST00000567685 human ensembl 69_37n +1 novel missense c.380 p.P127Q 0.252 NULL pfam_A_deamin,pfam_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_start_codon:pseudogene:no_stop_codon ADAD2 HGNC ENSG00000140955 156 0 0.00 43 5 10.42 - - - ADAM10 0 genome.wustl.edu 37 15 58902642 58902642 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 58902642 58902642 G T SNP ADAM10 ENST00000260408 human ensembl 69_37n -1 known missense c.1879 p.Q627K 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM10 HGNC ENSG00000137845 79 0 0.00 40 5 11.11 - - - ADAMTS16 0 genome.wustl.edu 37 5 5319177 5319177 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 5 5319177 5319177 C T SNP ADAMTS16 ENST00000274181 human ensembl 69_37n +1 known missense c.3601 p.P1201S 1.000 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 39 0 0.00 24 4 14.29 - - - ADAMTS2 0 genome.wustl.edu 37 5 178557077 178557077 + Silent SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 5 178557077 178557077 G T SNP ADAMTS2 ENST00000251582 human ensembl 69_37n -1 known silent c.2313 p.G771 0.998 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS2 HGNC ENSG00000087116 58 0 0.00 27 4 12.90 - - - ADAMTS7 0 genome.wustl.edu 37 15 79051766 79051766 + Silent SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 79051766 79051766 G T SNP ADAMTS7 ENST00000388820 human ensembl 69_37n -1 known silent c.5058 p.R1686 0.906 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 25 0 0.00 11 3 21.43 - - - ADCK1 0 genome.wustl.edu 37 14 78398044 78398044 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 14 78398044 78398044 G T SNP ADCK1 ENST00000238561 human ensembl 69_37n +1 known missense c.1390 p.A464S 1.000 NULL pfam_UbiB_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 45 0 0.00 21 3 12.50 - - - ADCY6 0 genome.wustl.edu 37 12 49176977 49176977 + Frame_Shift_Del DEL C C - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 49176977 49176977 C - DEL ADCY6 ENST00000307885 human ensembl 69_37n -1 known frame_shift_del c.241 p.E81fs 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 48 0 0.00 11 2 15.38 - - - ADD3 0 genome.wustl.edu 37 10 111893205 111893205 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 111893205 111893205 C A SNP ADD3 ENST00000356080 human ensembl 69_37n +1 known missense c.1950 p.S650R 0.890 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 38 0 0.00 33 4 10.81 - - - ALPK3 0 genome.wustl.edu 37 15 85383885 85383885 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 85383885 85383885 G A SNP ALPK3 ENST00000258888 human ensembl 69_37n +1 known missense c.1981 p.V661M 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK3 HGNC ENSG00000136383 28 0 0.00 22 4 15.38 - - - ALS2 0 genome.wustl.edu 37 2 202580403 202580403 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 202580403 202580403 G A SNP ALS2 ENST00000264276 human ensembl 69_37n -1 known silent c.3996 p.H1332 1.000 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain - no_errors ALS2 HGNC ENSG00000003393 26 0 0.00 16 4 20.00 - - - ALS2 0 genome.wustl.edu 37 2 202622362 202622362 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 2 202622362 202622362 C T SNP ALS2 ENST00000264276 human ensembl 69_37n -1 known missense c.1234 p.E412K 1.000 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain - no_errors ALS2 HGNC ENSG00000003393 49 0 0.00 32 30 48.39 - - - ALS2 0 genome.wustl.edu 37 2 202622362 202622362 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 202622362 202622362 C T SNP ALS2 ENST00000264276 human ensembl 69_37n -1 known missense c.1234 p.E412K 1.000 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain - no_errors ALS2 HGNC ENSG00000003393 64 0 0.00 63 24 27.59 - - - ALS2 0 genome.wustl.edu 37 2 202622362 202622362 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 202622362 202622362 C T SNP ALS2 ENST00000264276 human ensembl 69_37n -1 known missense c.1234 p.E412K 1.000 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain - no_errors ALS2 HGNC ENSG00000003393 64 0 0.00 44 26 37.14 - - - AMPD3 0 genome.wustl.edu 37 11 10483206 10483206 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 10483206 10483206 G T SNP AMPD3 ENST00000396553 human ensembl 69_37n +1 known missense c.140 p.C47F 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 72 0 0.00 29 4 12.12 - - - AP2B1 0 genome.wustl.edu 37 17 33935294 33935294 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 33935294 33935294 G A SNP AP2B1 ENST00000312678 human ensembl 69_37n +1 known missense c.413 p.R138Q 0.995 pfam_Clathrin/coatomer_adapt-like_N,pfam_HEAT,superfamily_ARM-type_fold,pirsf_AP_complex_bsu pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP2B1 HGNC ENSG00000006125 46 0 0.00 22 3 12.00 - - - APBA3 0 genome.wustl.edu 37 19 3751493 3751493 + Missense_Mutation SNP G G T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 3751493 3751493 G T SNP APBA3 ENST00000316757 human ensembl 69_37n -1 known missense c.1454 p.T485N 0.992 superfamily_PDZ,pfscan_PDZ pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA3 HGNC ENSG00000011132 32 0 0.00 32 4 11.11 - - - APLP1 0 genome.wustl.edu 37 19 36365733 36365733 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 36365733 36365733 G A SNP APLP1 ENST00000221891 human ensembl 69_37n +1 known missense c.1306 p.A436T 0.899 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 63 0 0.00 16 3 15.79 - - - APOL5 0 genome.wustl.edu 37 22 36123120 36123120 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 36123120 36123120 G T SNP APOL5 ENST00000249044 human ensembl 69_37n +1 known missense c.1005 p.K335N 0.000 pfam_ApoL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 48 0 0.00 20 3 13.04 - - - APOL5 0 genome.wustl.edu 37 22 36124823 36124823 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 36124823 36124823 C A SNP APOL5 ENST00000249044 human ensembl 69_37n +1 known missense c.1180 p.P394T 0.004 NULL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 59 0 0.00 20 4 16.67 - - - ARFIP2 0 genome.wustl.edu 37 11 6500114 6500114 + Nonsense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 6500114 6500114 C A SNP ARFIP2 ENST00000254584 human ensembl 69_37n -1 known nonsense c.391 p.E131* 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP2 HGNC ENSG00000132254 51 0 0.00 14 4 22.22 - - - ARHGAP28 0 genome.wustl.edu 37 18 6890051 6890051 + Silent SNP C C A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 18 6890051 6890051 C A SNP ARHGAP28 ENST00000400091 human ensembl 69_37n +1 known silent c.1701 p.R567 0.993 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 ARHGAP28 HGNC ENSG00000088756 78 0 0.00 50 11 18.03 - - - ARHGAP28 0 genome.wustl.edu 37 18 6890051 6890051 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 18 6890051 6890051 C A SNP ARHGAP28 ENST00000400091 human ensembl 69_37n +1 known silent c.1701 p.R567 0.993 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 ARHGAP28 HGNC ENSG00000088756 73 0 0.00 31 12 27.91 - - - ARHGAP31 0 genome.wustl.edu 37 3 119134094 119134094 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 119134094 119134094 C A SNP ARHGAP31 ENST00000264245 human ensembl 69_37n +1 known silent c.3318 p.S1106 0.991 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 52 0 0.00 33 4 10.81 - - - ARHGEF5 0 genome.wustl.edu 37 7 144062632 144062632 + Nonsense_Mutation SNP C C G TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 144062632 144062632 C G SNP ARHGEF5 ENST00000056217 human ensembl 69_37n +1 known nonsense c.2870 p.S957* 0.005 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 17 0 0.00 9 3 25.00 - - - ASXL3 0 genome.wustl.edu 37 18 31323717 31323717 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 18 31323717 31323717 G A SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known missense c.3905 p.S1302N 0.822 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 30 0 0.00 15 3 16.67 - - - ATG9B 0 genome.wustl.edu 37 7 150713034 150713034 + RNA SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 150713034 150713034 C T SNP ATG9B ENST00000377974 human ensembl 69_37n -1 known rna NULL NULL 0.975 - - - no_errors ATG9B HGNC ENSG00000181652 50 0 0.00 22 4 15.38 - - - ATPBD4 0 genome.wustl.edu 37 15 35834641 35834641 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 35834641 35834641 C A SNP ATPBD4 ENST00000256538 human ensembl 69_37n -1 known missense c.91 p.A31S 1.000 pfam_DUF71_ATP-bd_dom,tigrfam_DUF71_ATP-bd_dom pfam_DUF71_ATP-bd_dom,tigrfam_DUF71_ATP-bd_dom - no_errors ATPBD4 HGNC ENSG00000134146 25 0 0.00 11 3 21.43 - - - AVIL 0 genome.wustl.edu 37 12 58200213 58200213 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 58200213 58200213 G A SNP AVIL ENST00000257861 human ensembl 69_37n -1 known missense c.1601 p.A534V 1.000 pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors AVIL HGNC ENSG00000135407 47 0 0.00 34 4 10.53 - - - B4GALNT4 0 genome.wustl.edu 37 11 380191 380191 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 380191 380191 G A SNP B4GALNT4 ENST00000329962 human ensembl 69_37n +1 known missense c.2704 p.D902N 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 71 0 0.00 28 4 12.50 - - - BCL2L10 0 genome.wustl.edu 37 15 52402026 52402026 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 52402026 52402026 G A SNP BCL2L10 ENST00000561198 human ensembl 69_37n -1 putative missense c.704 p.P235L 0.001 NULL pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis - no_errors BCL2L10 HGNC ENSG00000137875 32 0 0.00 15 3 16.67 - - - BCR 0 genome.wustl.edu 37 22 23658668 23658669 + RNA INS - - TT TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 23658668 23658669 - TT INS BCR ENST00000436990 human ensembl 69_37n +1 known rna NULL NULL 1.000:1.000 - - - no_errors BCR HGNC ENSG00000186716 54 0 0.00 16 2 11.11 - - - BEST4 0 genome.wustl.edu 37 1 45250931 45250931 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 45250931 45250931 C A SNP BEST4 ENST00000372207 human ensembl 69_37n -1 known missense c.761 p.G254V 1.000 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC ENSG00000142959 44 0 0.00 24 4 14.29 - - - BRAP 0 genome.wustl.edu 37 12 112121094 112121094 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 12 112121094 112121094 C T SNP BRAP ENST00000419234 human ensembl 69_37n -1 known missense c.100 p.E34K 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 86 0 0.00 59 22 27.16 - - - BRAP 0 genome.wustl.edu 37 12 112121094 112121094 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 112121094 112121094 C T SNP BRAP ENST00000419234 human ensembl 69_37n -1 known missense c.100 p.E34K 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 127 0 0.00 57 28 32.94 - - - BRAP 0 genome.wustl.edu 37 12 112121094 112121094 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 112121094 112121094 C T SNP BRAP ENST00000419234 human ensembl 69_37n -1 known missense c.100 p.E34K 1.000 NULL pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 127 0 0.00 49 33 40.24 - - - BRD2 0 genome.wustl.edu 37 6 32947839 32947839 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 6 32947839 32947839 G T SNP BRD2 ENST00000395289 human ensembl 69_37n +1 known missense c.2181 p.K727N 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 43 0 0.00 21 6 21.43 - - - C1QTNF6 0 genome.wustl.edu 37 22 37584370 37584371 + RNA INS - - A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 37584370 37584371 - A INS C1QTNF6 ENST00000470655 human ensembl 69_37n -1 known rna NULL NULL 0.991:0.985 - - - no_errors C1QTNF6 HGNC ENSG00000133466 19 0 0.00 12 4 25.00 - - - C1orf110 0 genome.wustl.edu 37 1 162794590 162794590 + RNA SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 162794590 162794590 G A SNP C1orf110 ENST00000524691 human ensembl 69_37n -1 known rna NULL NULL 0.797 - - - no_errors C1orf110 HGNC ENSG00000185860 48 0 0.00 33 5 13.16 - - - C20orf194 0 genome.wustl.edu 37 20 3251163 3251163 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 20 3251163 3251163 C A SNP C20orf194 ENST00000252032 human ensembl 69_37n -1 known missense c.2696 p.R899L 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 55 0 0.00 25 3 10.71 - - - C21orf88 0 genome.wustl.edu 37 21 40978267 40978267 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 21 40978267 40978267 C T SNP C21orf88 ENST00000329618 human ensembl 69_37n -1 putative missense c.160 p.A54T 0.011 NULL NULL - no_errors C21orf88 HGNC ENSG00000184809 54 0 0.00 31 4 11.43 - - - C9orf69 0 genome.wustl.edu 37 9 139008444 139008446 + In_Frame_Del DEL CAG CAG - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 9 139008444 139008446 CAG - DEL C9orf69 ENST00000557985 human ensembl 69_37n -1 known in_frame_del c.303_301 p.L101in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors C9orf69 HGNC ENSG00000238227 66 0 0.00 25 3 10.71 - - - CADPS 0 genome.wustl.edu 37 3 62739399 62739399 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 62739399 62739399 C T SNP CADPS ENST00000383710 human ensembl 69_37n -1 known missense c.605 p.C202Y 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 43 0 0.00 11 4 26.67 - - - CAMK2G 0 genome.wustl.edu 37 10 75587868 75587868 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 75587868 75587868 C A SNP CAMK2G ENST00000423381 human ensembl 69_37n -1 known silent c.1065 p.S355 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2G HGNC ENSG00000148660 57 0 0.00 20 3 13.04 - - - CASC5 0 genome.wustl.edu 37 15 40913336 40913336 + Nonsense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 15 40913336 40913336 C T SNP CASC5 ENST00000346991 human ensembl 69_37n +1 known nonsense c.952 p.Q318* 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 52 0 0.00 15 18 54.55 - - - CASC5 0 genome.wustl.edu 37 15 40913336 40913336 + Nonsense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 40913336 40913336 C T SNP CASC5 ENST00000346991 human ensembl 69_37n +1 known nonsense c.952 p.Q318* 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 38 0 0.00 9 11 55.00 - - - CASC5 0 genome.wustl.edu 37 15 40913336 40913336 + Nonsense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 40913336 40913336 C T SNP CASC5 ENST00000346991 human ensembl 69_37n +1 known nonsense c.952 p.Q318* 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 38 0 0.00 18 9 33.33 - - - CCNL2 0 genome.wustl.edu 37 1 1325935 1325935 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 1325935 1325935 C A SNP CCNL2 ENST00000400809 human ensembl 69_37n -1 known missense c.768 p.L256F 0.968 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 24 0 0.00 14 3 17.65 - - - CD151 0 genome.wustl.edu 37 11 838275 838275 + RNA SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 838275 838275 C T SNP CD151 ENST00000525181 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors CD151 HGNC ENSG00000177697 94 0 0.00 28 4 12.50 - - - CDC42BPG 0 genome.wustl.edu 37 11 64603235 64603235 + Frame_Shift_Del DEL T T - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 64603235 64603235 T - DEL CDC42BPG ENST00000342711 human ensembl 69_37n -1 known frame_shift_del c.1757 p.K586fs 0.996 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 51 0 0.00 13 2 13.33 - - - CDH5 0 genome.wustl.edu 37 16 66420810 66420810 + Silent SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 66420810 66420810 C T SNP CDH5 ENST00000341529 human ensembl 69_37n +1 known silent c.309 p.F103 0.971 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 79 0 0.00 32 5 13.51 - - - CDH6 0 genome.wustl.edu 37 5 31313557 31313558 + Frame_Shift_Ins INS - - T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 5 31313557 31313558 - T INS CDH6 ENST00000265071 human ensembl 69_37n +1 known frame_shift_ins c.1386_1387 p.I462fs 0.992:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 18 0 0.00 7 3 30.00 - - - CELSR1 0 genome.wustl.edu 37 22 46930967 46930967 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 46930967 46930967 C A SNP CELSR1 ENST00000262738 human ensembl 69_37n -1 known missense c.2101 p.A701S 0.422 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 62 0 0.00 7 4 36.36 - - - CEP55 0 genome.wustl.edu 37 10 95279501 95279501 + Silent SNP A A G TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 10 95279501 95279501 A G SNP CEP55 ENST00000371485 human ensembl 69_37n +1 known silent c.1128 p.Q376 0.945 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 61 0 0.00 37 11 22.92 - - - CEP55 0 genome.wustl.edu 37 10 95279501 95279501 + Silent SNP A A G TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 95279501 95279501 A G SNP CEP55 ENST00000371485 human ensembl 69_37n +1 known silent c.1128 p.Q376 0.945 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 66 0 0.00 28 7 20.00 - - - CEP55 0 genome.wustl.edu 37 10 95279501 95279501 + Silent SNP A A G TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 95279501 95279501 A G SNP CEP55 ENST00000371485 human ensembl 69_37n +1 known silent c.1128 p.Q376 0.945 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 66 0 0.00 31 8 20.51 - - - CHD7 0 genome.wustl.edu 37 8 61654374 61654374 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 8 61654374 61654374 G T SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known missense c.383 p.G128V 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 67 0 0.00 36 4 10.00 - - - CIT 0 genome.wustl.edu 37 12 120168341 120168341 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 120168341 120168341 G T SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.3319 p.L1107I 0.994 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 67 0 0.00 26 4 12.90 - - - CORO7 0 genome.wustl.edu 37 16 4405324 4405324 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 4405324 4405324 G T SNP CORO7 ENST00000572467 human ensembl 69_37n -1 known missense c.2735 p.P912H 1.000 NULL pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7 HGNC ENSG00000103426 59 0 0.00 20 4 16.00 - - - CSPG4 0 genome.wustl.edu 37 15 75967903 75967903 + Missense_Mutation SNP C C G TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 15 75967903 75967903 C G SNP CSPG4 ENST00000308508 human ensembl 69_37n -1 known missense c.6957 p.Q2319H 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 10 0 0.00 13 9 40.91 - - - CSPG4 0 genome.wustl.edu 37 15 75967903 75967903 + Missense_Mutation SNP C C G TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 75967903 75967903 C G SNP CSPG4 ENST00000308508 human ensembl 69_37n -1 known missense c.6957 p.Q2319H 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 71 0 0.00 47 41 46.59 - - - CSPG4 0 genome.wustl.edu 37 15 75967903 75967903 + Missense_Mutation SNP C C G TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 75967903 75967903 C G SNP CSPG4 ENST00000308508 human ensembl 69_37n -1 known missense c.6957 p.Q2319H 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 71 0 0.00 18 11 37.93 - - - CUBN 0 genome.wustl.edu 37 10 16979645 16979645 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 16979645 16979645 G T SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.5872 p.L1958M 0.837 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 45 0 0.00 24 3 11.11 - - - CUX2 0 genome.wustl.edu 37 12 111757929 111757929 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 111757929 111757929 G A SNP CUX2 ENST00000261726 human ensembl 69_37n +1 known missense c.2116 p.A706T 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 50 0 0.00 18 3 14.29 - - - CWC27 0 genome.wustl.edu 37 5 64267547 64267547 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 5 64267547 64267547 G A SNP CWC27 ENST00000381070 human ensembl 69_37n +1 known missense c.1060 p.D354N 0.998 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors CWC27 HGNC ENSG00000153015 43 0 0.00 25 15 37.50 - - - CWC27 0 genome.wustl.edu 37 5 64267547 64267547 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 5 64267547 64267547 G A SNP CWC27 ENST00000381070 human ensembl 69_37n +1 known missense c.1060 p.D354N 0.998 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors CWC27 HGNC ENSG00000153015 53 0 0.00 37 17 31.48 - - - CWC27 0 genome.wustl.edu 37 5 64267547 64267547 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 5 64267547 64267547 G A SNP CWC27 ENST00000381070 human ensembl 69_37n +1 known missense c.1060 p.D354N 0.998 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors CWC27 HGNC ENSG00000153015 53 0 0.00 20 22 52.38 - - - DAGLA 0 genome.wustl.edu 37 11 61498911 61498911 + Nonsense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 61498911 61498911 C A SNP DAGLA ENST00000257215 human ensembl 69_37n +1 known nonsense c.972 p.C324* 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 91 0 0.00 36 4 10.00 - - - DAPK1 0 genome.wustl.edu 37 9 90283406 90283406 + RNA SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 9 90283406 90283406 C A SNP DAPK1 ENST00000497743 human ensembl 69_37n +1 known rna NULL NULL 0.036 - - - no_errors DAPK1 HGNC ENSG00000196730 18 0 0.00 10 3 23.08 - - - DAPK3 0 genome.wustl.edu 37 19 3960085 3960085 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 3960085 3960085 G T SNP DAPK3 ENST00000301264 human ensembl 69_37n -1 known missense c.800 p.A267D 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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 DAPK3 HGNC ENSG00000167657 74 0 0.00 36 4 10.00 - - - DBNDD1 0 genome.wustl.edu 37 16 90075864 90075864 + Frame_Shift_Del DEL T T - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 90075864 90075864 T - DEL DBNDD1 ENST00000392973 human ensembl 69_37n -1 putative frame_shift_del c.24 p.G9fs 0.000 NULL pfam_Dysbindin - no_errors DBNDD1 HGNC ENSG00000003249 64 0 0.00 18 2 10.00 - - - DCAF4L1 0 genome.wustl.edu 37 4 41984238 41984238 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 4 41984238 41984238 G A SNP DCAF4L1 ENST00000333141 human ensembl 69_37n +1 known silent c.429 p.L143 0.996 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 32 0 0.00 34 5 12.82 - - - DDOST 0 genome.wustl.edu 37 1 20982189 20982189 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 20982189 20982189 C A SNP DDOST ENST00000375048 human ensembl 69_37n -1 known missense c.487 p.D163Y 1.000 pfam_OligosaccharylTrfase_su_Wbp1 pfam_OligosaccharylTrfase_su_Wbp1 - no_errors DDOST HGNC ENSG00000244038 37 0 0.00 25 3 10.71 - - - DEPDC5 0 genome.wustl.edu 37 22 32211125 32211125 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 32211125 32211125 C A SNP DEPDC5 ENST00000266091 human ensembl 69_37n +1 known missense c.1593 p.N531K 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 74 0 0.00 35 4 10.00 - - - DGCR2 0 genome.wustl.edu 37 22 19028688 19028688 + Frame_Shift_Del DEL G G - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 19028688 19028688 G - DEL DGCR2 ENST00000263196 human ensembl 69_37n -1 known frame_shift_del c.1279 p.H427fs 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 82 0 0.00 17 2 10.53 - - - DGCR8 0 genome.wustl.edu 37 22 20073697 20073697 + Nonsense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 20073697 20073697 G T SNP DGCR8 ENST00000351989 human ensembl 69_37n +1 known nonsense c.211 p.G71* 1.000 NULL pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd - no_errors DGCR8 HGNC ENSG00000128191 53 0 0.00 21 4 14.81 - - - DLEC1 0 genome.wustl.edu 37 3 38153821 38153821 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 38153821 38153821 G T SNP DLEC1 ENST00000346219 human ensembl 69_37n +1 known missense c.3635 p.W1212L 1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 51 0 0.00 33 4 10.81 - - - DNAH10 0 genome.wustl.edu 37 12 124283880 124283880 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 124283880 124283880 G T SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.1897 p.V633L 0.002 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 50 0 0.00 24 4 14.29 - - - DNAJB13 0 genome.wustl.edu 37 11 73681140 73681140 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 73681140 73681140 G T SNP DNAJB13 ENST00000339764 human ensembl 69_37n +1 known missense c.932 p.R311L 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJB13 HGNC ENSG00000187726 68 0 0.00 25 4 13.79 - - - DNMT1 0 genome.wustl.edu 37 19 10262429 10262429 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 10262429 10262429 C T SNP DNMT1 ENST00000359526 human ensembl 69_37n -1 known missense c.2114 p.R705Q 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_Znf_CXXC,pfscan_Znf_CXXC pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 36 0 0.00 21 5 19.23 - - - DOCK3 0 genome.wustl.edu 37 3 51265412 51265412 + Splice_Site SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 51265412 51265412 G A SNP DOCK3 ENST00000266037 human ensembl 69_37n +1 known splice_site c.1541-1 e17-1 1.000 - - - no_errors DOCK3 HGNC ENSG00000088538 62 0 0.00 29 4 12.12 - - - DRG2 0 genome.wustl.edu 37 17 18002972 18002972 + Silent SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 18002972 18002972 C T SNP DRG2 ENST00000225729 human ensembl 69_37n +1 known silent c.402 p.I134 0.940 pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 57 0 0.00 17 3 15.00 - - - DUSP13 0 genome.wustl.edu 37 10 76865446 76865446 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 76865446 76865446 C A SNP DUSP13 ENST00000372702 human ensembl 69_37n -1 known missense c.548 p.R183L 0.731 pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 61 0 0.00 21 4 15.38 - - - DUSP7 0 genome.wustl.edu 37 3 52090059 52090059 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 52090059 52090059 G T SNP DUSP7 ENST00000296483 human ensembl 69_37n -1 known missense c.171 p.N57K 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP7 HGNC ENSG00000164086 43 0 0.00 14 4 21.05 - - - DYNC1LI2 0 genome.wustl.edu 37 16 66759819 66759821 + In_Frame_Del DEL GGC GGC - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 66759819 66759821 GGC - DEL DYNC1LI2 ENST00000258198 human ensembl 69_37n -1 known in_frame_del c.1290_1288 p.A430in_frame_del 1.000:1.000:1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain - no_errors DYNC1LI2 HGNC ENSG00000135720 43 0 0.00 12 2 14.29 - - - E2F8 0 genome.wustl.edu 37 11 19256462 19256462 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 11 19256462 19256462 C T SNP E2F8 ENST00000250024 human ensembl 69_37n -1 known missense c.595 p.E199K 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 89 0 0.00 23 27 54.00 - - - E2F8 0 genome.wustl.edu 37 11 19256462 19256462 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 19256462 19256462 C T SNP E2F8 ENST00000250024 human ensembl 69_37n -1 known missense c.595 p.E199K 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 142 0 0.00 33 37 52.86 - - - E2F8 0 genome.wustl.edu 37 11 19256462 19256462 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 19256462 19256462 C T SNP E2F8 ENST00000250024 human ensembl 69_37n -1 known missense c.595 p.E199K 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 142 0 0.00 35 36 50.00 - - - EHBP1 0 genome.wustl.edu 37 2 63101518 63101518 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 63101518 63101518 C A SNP EHBP1 ENST00000263991 human ensembl 69_37n +1 known missense c.1141 p.P381T 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 38 0 0.00 27 3 10.00 - - - EIF3A 0 genome.wustl.edu 37 10 120801902 120801902 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 120801902 120801902 C A SNP EIF3A ENST00000369144 human ensembl 69_37n -1 known missense c.3130 p.D1044Y 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 44 0 0.00 26 4 13.33 - - - EIF4G1 0 genome.wustl.edu 37 3 184045691 184045691 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 184045691 184045691 C A SNP EIF4G1 ENST00000352767 human ensembl 69_37n +1 known missense c.3875 p.S1292Y 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI 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 41 0 0.00 25 3 10.71 - - - EIF4G2 0 genome.wustl.edu 37 11 10825497 10825497 + Silent SNP A A T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 10825497 10825497 A T SNP EIF4G2 ENST00000339995 human ensembl 69_37n -1 known silent c.651 p.L217 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_W2_domain,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_start_codon EIF4G2 HGNC ENSG00000110321 81 0 0.00 36 4 10.00 - - - ELP4 0 genome.wustl.edu 37 11 31531366 31531366 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 31531366 31531366 C A SNP ELP4 ENST00000395934 human ensembl 69_37n +1 known missense c.35 p.A12E 0.000 NULL pfam_Elongator_complex_protein_4 - no_errors ELP4 HGNC ENSG00000109911 56 0 0.00 23 4 14.81 - - - ENSG00000187461 0 genome.wustl.edu 37 6 13470378 13470378 + Silent SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 6 13470378 13470378 G T SNP ENSG00000187461 ENST00000558378 human ensembl 69_37n -1 known silent c.135 p.G45 0.000 NULL NULL - no_errors AL583828.1 Clone_based_ensembl_gene ENSG00000187461 28 0 0.00 22 5 18.52 - - - ENSG00000237101 0 genome.wustl.edu 37 1 224415230 224415230 + RNA SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 224415230 224415230 C T SNP ENSG00000237101 ENST00000420350 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RP11-365O16.6 Clone_based_vega_gene ENSG00000237101 29 0 0.00 35 4 10.26 - - - ENSG00000262323 0 genome.wustl.edu 37 16 29690477 29690477 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 29690477 29690477 C A SNP ENSG00000262323 ENST00000449759 human ensembl 69_37n +1 putative silent c.75 p.V25 0.000 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region AC009133.19 Clone_based_vega_gene ENSG00000262323 62 0 0.00 33 4 10.81 - - - EPB41L1 0 genome.wustl.edu 37 20 34761742 34761743 + Frame_Shift_Del DEL CA CA - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 20 34761742 34761743 CA - DEL EPB41L1 ENST00000338074 human ensembl 69_37n +1 known frame_shift_del c.43_44 p.Q15fs 1.000:1.000 pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L1 HGNC ENSG00000088367 62 0 0.00 14 2 12.50 - - - EPB41L3 0 genome.wustl.edu 37 18 5434102 5434102 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 18 5434102 5434102 C A SNP EPB41L3 ENST00000341928 human ensembl 69_37n -1 known missense c.624 p.Q208H 0.734 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L3 HGNC ENSG00000082397 58 0 0.00 25 4 13.79 - - - EPS8L2 0 genome.wustl.edu 37 11 722444 722445 + Frame_Shift_Del DEL CC CC - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 722444 722445 CC - DEL EPS8L2 ENST00000318562 human ensembl 69_37n +1 known frame_shift_del c.1103_1104 p.S368fs 0.409:0.978 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 56 0 0.00 15 2 11.76 - - - FADS1 0 genome.wustl.edu 37 11 61570511 61570511 + Nonsense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 61570511 61570511 C A SNP FADS1 ENST00000350997 human ensembl 69_37n -1 known nonsense c.1321 p.E441* 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors FADS1 HGNC ENSG00000149485 37 0 0.00 13 3 18.75 - - - FAM134A 0 genome.wustl.edu 37 2 220045923 220045923 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 2 220045923 220045923 G A SNP FAM134A ENST00000430297 human ensembl 69_37n +1 known silent c.780 p.K260 1.000 NULL pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 52 0 0.00 26 19 42.22 - - - FAM134A 0 genome.wustl.edu 37 2 220045923 220045923 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 220045923 220045923 G A SNP FAM134A ENST00000430297 human ensembl 69_37n +1 known silent c.780 p.K260 1.000 NULL pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 131 0 0.00 81 36 30.51 - - - FAM134A 0 genome.wustl.edu 37 2 220045923 220045923 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 220045923 220045923 G A SNP FAM134A ENST00000430297 human ensembl 69_37n +1 known silent c.780 p.K260 1.000 NULL pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 131 0 0.00 68 27 28.42 - - - FAM179B 0 genome.wustl.edu 37 14 45513889 45513889 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 14 45513889 45513889 G A SNP FAM179B ENST00000361577 human ensembl 69_37n +1 known missense c.3970 p.D1324N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 115 0 0.00 62 19 23.46 - - - FAM179B 0 genome.wustl.edu 37 14 45513889 45513889 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 14 45513889 45513889 G A SNP FAM179B ENST00000361577 human ensembl 69_37n +1 known missense c.3970 p.D1324N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 54 0 0.00 33 18 35.29 - - - FAM179B 0 genome.wustl.edu 37 14 45513889 45513889 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 14 45513889 45513889 G A SNP FAM179B ENST00000361577 human ensembl 69_37n +1 known missense c.3970 p.D1324N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 54 0 0.00 43 17 28.33 - - - FAM3A 0 genome.wustl.edu 37 X 153736169 153736169 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 153736169 153736169 C T SNP FAM3A ENST00000359889 human ensembl 69_37n -1 known missense c.358 p.A120T 1.000 NULL NULL - no_errors FAM3A HGNC ENSG00000071889 64 0 0.00 35 4 10.26 - - - FARP2 0 genome.wustl.edu 37 2 242312535 242312535 + Nonsense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 242312535 242312535 G T SNP FARP2 ENST00000264042 human ensembl 69_37n +1 known nonsense c.13 p.E5* 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 40 0 0.00 25 5 16.67 - - - FASN 0 genome.wustl.edu 37 17 80037393 80037393 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 80037393 80037393 C T SNP FASN ENST00000306749 human ensembl 69_37n -1 known missense c.7238 p.R2413H 0.086 pfam_Thioesterase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 82 0 0.00 30 4 11.76 - - - FBXL20 0 genome.wustl.edu 37 17 37457283 37457283 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 37457283 37457283 C A SNP FBXL20 ENST00000264658 human ensembl 69_37n -1 known missense c.205 p.D69Y 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL20 HGNC ENSG00000108306 46 0 0.00 17 3 15.00 - - - FGFRL1 0 genome.wustl.edu 37 4 1018703 1018703 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 4 1018703 1018703 G A SNP FGFRL1 ENST00000264748 human ensembl 69_37n +1 known silent c.1083 p.P361 0.068 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FGFRL1 HGNC ENSG00000127418 79 0 0.00 37 5 11.90 - - - FHOD3 0 genome.wustl.edu 37 18 34359414 34359414 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 18 34359414 34359414 G A SNP FHOD3 ENST00000257209 human ensembl 69_37n +1 known missense c.4241 p.R1414Q 1.000 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC ENSG00000134775 37 0 0.00 24 17 41.46 - - - FHOD3 0 genome.wustl.edu 37 18 34359414 34359414 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 18 34359414 34359414 G A SNP FHOD3 ENST00000257209 human ensembl 69_37n +1 known missense c.4241 p.R1414Q 1.000 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC ENSG00000134775 41 0 0.00 20 8 28.57 - - - FHOD3 0 genome.wustl.edu 37 18 34359414 34359414 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 18 34359414 34359414 G A SNP FHOD3 ENST00000257209 human ensembl 69_37n +1 known missense c.4241 p.R1414Q 1.000 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC ENSG00000134775 41 0 0.00 16 5 23.81 - - - FKBP8 0 genome.wustl.edu 37 19 18644121 18644121 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 18644121 18644121 G T SNP FKBP8 ENST00000453489 human ensembl 69_37n -1 known missense c.1066 p.P356T 0.996 pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 90 0 0.00 36 4 10.00 - - - FLG 0 genome.wustl.edu 37 1 152282658 152282658 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 1 152282658 152282658 G A SNP FLG ENST00000368799 human ensembl 69_37n -1 known silent c.4704 p.A1568 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 199 0 0.00 108 87 44.62 - - - FLG 0 genome.wustl.edu 37 1 152282658 152282658 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 152282658 152282658 G A SNP FLG ENST00000368799 human ensembl 69_37n -1 known silent c.4704 p.A1568 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 237 0 0.00 150 164 52.23 - - - FLG 0 genome.wustl.edu 37 1 152282658 152282658 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 152282658 152282658 G A SNP FLG ENST00000368799 human ensembl 69_37n -1 known silent c.4704 p.A1568 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 237 0 0.00 120 107 46.93 - - - FLNC 0 genome.wustl.edu 37 7 128488729 128488729 + Silent SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 128488729 128488729 C T SNP FLNC ENST00000325888 human ensembl 69_37n +1 known silent c.4695 p.D1565 1.000 pfam_Filamin/ABP280_repeat-like,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 FLNC HGNC ENSG00000128591 66 0 0.00 36 5 12.20 - - - FPR1 0 genome.wustl.edu 37 19 52249581 52249581 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 52249581 52249581 G T SNP FPR1 ENST00000304748 human ensembl 69_37n -1 known missense c.667 p.L223I 0.721 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR1 HGNC ENSG00000171051 39 0 0.00 11 3 21.43 - - - FRMPD4 0 genome.wustl.edu 37 X 12735733 12735733 + Nonsense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 12735733 12735733 G T SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known nonsense c.2788 p.E930* 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 53 0 0.00 30 4 11.76 - - - FSD2 0 genome.wustl.edu 37 15 83437774 83437774 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 83437774 83437774 G A SNP FSD2 ENST00000334574 human ensembl 69_37n -1 known missense c.1411 p.P471S 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors FSD2 HGNC ENSG00000186628 87 0 0.00 58 14 19.44 - - - FSD2 0 genome.wustl.edu 37 15 83437774 83437774 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 83437774 83437774 G A SNP FSD2 ENST00000334574 human ensembl 69_37n -1 known missense c.1411 p.P471S 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors FSD2 HGNC ENSG00000186628 87 0 0.00 53 13 19.70 - - - FSIP2 0 genome.wustl.edu 37 2 186657778 186657778 + Missense_Mutation SNP C C A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 186657778 186657778 C A SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.6182 p.S2061Y 0.013 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 28 0 0.00 20 9 31.03 - - - FSIP2 0 genome.wustl.edu 37 2 186657778 186657778 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 186657778 186657778 C A SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known missense c.6182 p.S2061Y 0.013 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 28 0 0.00 10 5 33.33 - - - FUBP1 0 genome.wustl.edu 37 1 78413028 78413028 + RNA SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 78413028 78413028 G T SNP FUBP1 ENST00000489495 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors FUBP1 HGNC ENSG00000162613 35 0 0.00 20 3 13.04 - - - GAPDHS 0 genome.wustl.edu 37 19 36034281 36034281 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 36034281 36034281 G T SNP GAPDHS ENST00000222286 human ensembl 69_37n +1 known missense c.781 p.D261Y 1.000 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 59 0 0.00 22 4 15.38 - - - GBP5 0 genome.wustl.edu 37 1 89732029 89732029 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 89732029 89732029 G A SNP GBP5 ENST00000343435 human ensembl 69_37n -1 known missense c.868 p.R290C 0.035 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP5 HGNC ENSG00000154451 32 0 0.00 25 4 13.79 - - - GDPD4 0 genome.wustl.edu 37 11 76979997 76979997 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 76979997 76979997 G T SNP GDPD4 ENST00000376217 human ensembl 69_37n -1 known missense c.596 p.T199N 0.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 54 0 0.00 29 4 12.12 - - - GLE1 0 genome.wustl.edu 37 9 131287531 131287531 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 9 131287531 131287531 G A SNP GLE1 ENST00000309971 human ensembl 69_37n +1 known missense c.958 p.D320N 0.997 NULL pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 38 0 0.00 16 4 20.00 - - - GPR112 0 genome.wustl.edu 37 X 135429953 135429953 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 135429953 135429953 C T SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.4088 p.T1363I 0.014 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 48 0 0.00 27 4 12.90 - - - GTPBP4 0 genome.wustl.edu 37 10 1034404 1034404 + RNA SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 1034404 1034404 G A SNP GTPBP4 ENST00000491635 human ensembl 69_37n +1 known rna NULL NULL 0.496 - - - no_errors GTPBP4 HGNC ENSG00000107937 119 0 0.00 75 21 21.88 - - - GTPBP4 0 genome.wustl.edu 37 10 1034404 1034404 + RNA SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 1034404 1034404 G A SNP GTPBP4 ENST00000491635 human ensembl 69_37n +1 known rna NULL NULL 0.496 - - - no_errors GTPBP4 HGNC ENSG00000107937 119 0 0.00 39 5 11.11 - - - HECTD2 0 genome.wustl.edu 37 10 93256090 93256090 + Silent SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 10 93256090 93256090 C T SNP HECTD2 ENST00000446394 human ensembl 69_37n +1 known silent c.1653 p.I551 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 78 0 0.00 53 11 17.19 - - - HECTD2 0 genome.wustl.edu 37 10 93256090 93256090 + Silent SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 93256090 93256090 C T SNP HECTD2 ENST00000446394 human ensembl 69_37n +1 known silent c.1653 p.I551 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 176 0 0.00 74 26 26.00 - - - HECTD2 0 genome.wustl.edu 37 10 93256090 93256090 + Silent SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 93256090 93256090 C T SNP HECTD2 ENST00000446394 human ensembl 69_37n +1 known silent c.1653 p.I551 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 176 0 0.00 110 23 17.29 - - - HIPK3 0 genome.wustl.edu 37 11 33360340 33360340 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 33360340 33360340 C A SNP HIPK3 ENST00000303296 human ensembl 69_37n +1 known missense c.1379 p.S460Y 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK3 HGNC ENSG00000110422 36 0 0.00 21 3 12.50 - - - HK2 0 genome.wustl.edu 37 2 75117929 75117929 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 2 75117929 75117929 C T SNP HK2 ENST00000290573 human ensembl 69_37n +1 known missense c.2615 p.A872V 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 87 0 0.00 49 22 30.99 - - - HK2 0 genome.wustl.edu 37 2 75117929 75117929 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 75117929 75117929 C T SNP HK2 ENST00000290573 human ensembl 69_37n +1 known missense c.2615 p.A872V 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 58 0 0.00 37 15 28.85 - - - HK2 0 genome.wustl.edu 37 2 75117929 75117929 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 75117929 75117929 C T SNP HK2 ENST00000290573 human ensembl 69_37n +1 known missense c.2615 p.A872V 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 58 0 0.00 31 14 30.43 - - - HMGB3 0 genome.wustl.edu 37 X 150155775 150155775 + Missense_Mutation SNP G G T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca X 150155775 150155775 G T SNP HMGB3 ENST00000325307 human ensembl 69_37n +1 known missense c.465 p.K155N 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB3 HGNC ENSG00000029993 57 0 0.00 31 16 34.04 - - - HMGB3 0 genome.wustl.edu 37 X 150155775 150155775 + Missense_Mutation SNP G G T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 150155775 150155775 G T SNP HMGB3 ENST00000325307 human ensembl 69_37n +1 known missense c.465 p.K155N 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB3 HGNC ENSG00000029993 28 0 0.00 21 7 25.00 - - - HMGB3 0 genome.wustl.edu 37 X 150155775 150155775 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 150155775 150155775 G T SNP HMGB3 ENST00000325307 human ensembl 69_37n +1 known missense c.465 p.K155N 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB3 HGNC ENSG00000029993 28 0 0.00 22 4 15.38 - - - HMGXB3 0 genome.wustl.edu 37 5 149427198 149427198 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 5 149427198 149427198 G T SNP HMGXB3 ENST00000502717 human ensembl 69_37n +1 known missense c.2962 p.A988S 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC ENSG00000113716 75 0 0.00 42 5 10.64 - - - HMHA1 0 genome.wustl.edu 37 19 1073174 1073174 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 1073174 1073174 G A SNP HMHA1 ENST00000313093 human ensembl 69_37n +1 known missense c.448 p.A150T 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 83 0 0.00 27 4 12.50 - - - IBTK 0 genome.wustl.edu 37 6 82891744 82891744 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 6 82891744 82891744 C T SNP IBTK ENST00000306270 human ensembl 69_37n -1 known missense c.3577 p.A1193T 0.081 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 40 0 0.00 22 3 12.00 - - - IL17C 0 genome.wustl.edu 37 16 88706309 88706309 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 88706309 88706309 C A SNP IL17C ENST00000244241 human ensembl 69_37n +1 known silent c.423 p.R141 0.199 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17C HGNC ENSG00000124391 64 0 0.00 12 3 20.00 - - - ILDR1 0 genome.wustl.edu 37 3 121713130 121713130 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 121713130 121713130 G T SNP ILDR1 ENST00000344209 human ensembl 69_37n -1 known missense c.677 p.A226D 0.977 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 74 0 0.00 30 4 11.76 - - - INF2 0 genome.wustl.edu 37 14 105179546 105179546 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 14 105179546 105179546 G T SNP INF2 ENST00000392634 human ensembl 69_37n +1 known missense c.2778 p.E926D 1.000 superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 68 0 0.00 17 3 15.00 - - - INPP5K 0 genome.wustl.edu 37 17 1413094 1413094 + Splice_Site SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 1413094 1413094 C A SNP INPP5K ENST00000421807 human ensembl 69_37n -1 known splice_site c.262-1 e4-1 1.000 - - - no_errors INPP5K HGNC ENSG00000132376 66 0 0.00 18 4 18.18 - - - INTS4L2 0 genome.wustl.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 7 65150713 65150714 - A INS INTS4L2 ENST00000430126 human ensembl 69_37n +1 known rna NULL NULL 1.000:0.995 - - - no_errors INTS4L2 HGNC ENSG00000232270 37 0 0.00 39 7 15.22 - - - IRGC 0 genome.wustl.edu 37 19 44223465 44223465 + Nonsense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 44223465 44223465 C A SNP IRGC ENST00000244314 human ensembl 69_37n +1 known nonsense c.755 p.S252* 0.997 pfam_Interferon-induced_GTPase pfam_Interferon-induced_GTPase - no_errors IRGC HGNC ENSG00000124449 58 0 0.00 29 4 12.12 - - - JAK3 0 genome.wustl.edu 37 19 17943400 17943400 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 17943400 17943400 G A SNP JAK3 ENST00000458235 human ensembl 69_37n -1 known missense c.2608 p.R870W 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 59 0 0.00 28 4 12.50 - - - KBTBD6 0 genome.wustl.edu 37 13 41706178 41706178 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 13 41706178 41706178 C T SNP KBTBD6 ENST00000379485 human ensembl 69_37n -1 known missense c.470 p.R157Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 64 0 0.00 27 4 12.90 - - - KCNA7 0 genome.wustl.edu 37 19 49573727 49573727 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 49573727 49573727 C A SNP KCNA7 ENST00000221444 human ensembl 69_37n -1 known missense c.964 p.G322C 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv 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_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KCNA7 HGNC ENSG00000104848 39 0 0.00 12 4 25.00 - - - KCNC1 0 genome.wustl.edu 37 11 17757887 17757887 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 17757887 17757887 G T SNP KCNC1 ENST00000265969 human ensembl 69_37n +1 known missense c.338 p.R113L 1.000 NULL 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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 109 0 0.00 33 4 10.81 - - - KCNIP2 0 genome.wustl.edu 37 10 103586813 103586813 + RNA SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 103586813 103586813 G T SNP KCNIP2 ENST00000355657 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors KCNIP2 HGNC ENSG00000120049 42 0 0.00 25 4 13.79 - - - KCNJ16 0 genome.wustl.edu 37 17 68128822 68128822 + Nonsense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 68128822 68128822 C A SNP KCNJ16 ENST00000283936 human ensembl 69_37n +1 known nonsense c.594 p.C198* 0.965 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir_Cr2 - no_errors KCNJ16 HGNC ENSG00000153822 18 0 0.00 9 3 25.00 - - - KCNN3 0 genome.wustl.edu 37 1 154842243 154842243 + Silent SNP A A C TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 1 154842243 154842243 A C SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known silent c.198 p.L66 0.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 18 0 0.00 24 14 36.84 - - - KCP 0 genome.wustl.edu 37 7 128524838 128524838 + RNA SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 128524838 128524838 G A SNP KCP ENST00000297801 human ensembl 69_37n -1 known rna NULL NULL 0.974 - - - no_errors KCP HGNC ENSG00000135253 31 0 0.00 21 4 16.00 - - - KCTD19 0 genome.wustl.edu 37 16 67333403 67333403 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 67333403 67333403 C A SNP KCTD19 ENST00000304372 human ensembl 69_37n -1 known silent c.849 p.V283 0.961 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 84 0 0.00 36 5 12.20 - - - KDM2B 0 genome.wustl.edu 37 12 121878877 121878877 + Silent SNP C C A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 12 121878877 121878877 C A SNP KDM2B ENST00000377071 human ensembl 69_37n -1 known silent c.3444 p.L1148 0.991 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 46 0 0.00 14 15 51.72 - - - KDM2B 0 genome.wustl.edu 37 12 121878877 121878877 + Silent SNP C C A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 121878877 121878877 C A SNP KDM2B ENST00000377071 human ensembl 69_37n -1 known silent c.3444 p.L1148 0.991 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 41 0 0.00 28 16 36.36 - - - KDM2B 0 genome.wustl.edu 37 12 121878877 121878877 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 121878877 121878877 C A SNP KDM2B ENST00000377071 human ensembl 69_37n -1 known silent c.3444 p.L1148 0.991 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 41 0 0.00 9 7 43.75 - - - KDM5C 0 genome.wustl.edu 37 X 53224485 53224486 + In_Frame_Ins INS - - GGT TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca X 53224485 53224486 - GGT INS KDM5C ENST00000375401 human ensembl 69_37n -1 known in_frame_ins c.3228_3227 p.1077in_frame_insP 1.000:1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 67 0 0.00 47 8 14.55 - - - KDM5C 0 genome.wustl.edu 37 X 53224486 53224486 + Missense_Mutation SNP A A G TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 53224486 53224486 A G SNP KDM5C ENST00000375401 human ensembl 69_37n -1 known missense c.3227 p.L1076P 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 77 0 0.00 46 17 26.98 - - - KDM5C 0 genome.wustl.edu 37 X 53224486 53224486 + Missense_Mutation SNP A A G TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 53224486 53224486 A G SNP KDM5C ENST00000375401 human ensembl 69_37n -1 known missense c.3227 p.L1076P 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 77 0 0.00 33 8 19.51 - - - KIAA0391 0 genome.wustl.edu 37 14 35591079 35591079 + RNA SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 14 35591079 35591079 C A SNP KIAA0391 ENST00000556711 human ensembl 69_37n +1 putative rna NULL NULL 0.004 - - - no_errors RP11-173D9.3 Clone_based_vega_gene ENSG00000100890 61 0 0.00 26 4 13.33 - - - KIAA1683 0 genome.wustl.edu 37 19 18368439 18368439 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 18368439 18368439 G T SNP KIAA1683 ENST00000392413 human ensembl 69_37n -1 known missense c.3655 p.R1219S 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 71 0 0.00 32 4 11.11 - - - KIF1C 0 genome.wustl.edu 37 17 4926940 4926940 + Frame_Shift_Del DEL C C - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 4926940 4926940 C - DEL KIF1C ENST00000320785 human ensembl 69_37n +1 known frame_shift_del c.2806 p.R936fs 0.999 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 50 0 0.00 15 2 11.76 - - - KLHL36 0 genome.wustl.edu 37 16 84695218 84695218 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 84695218 84695218 G T SNP KLHL36 ENST00000564996 human ensembl 69_37n +1 known missense c.1330 p.D444Y 0.994 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 83 0 0.00 34 4 10.26 - - - KRT82 0 genome.wustl.edu 37 12 52790696 52790696 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 52790696 52790696 G T SNP KRT82 ENST00000257974 human ensembl 69_37n -1 known missense c.1039 p.Q347K 1.000 pfam_F pfam_F,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 79 0 0.00 19 3 13.64 - - - KU-MEL-3 0 genome.wustl.edu 37 6 4611304 4611304 + RNA SNP C C A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 6 4611304 4611304 C A SNP KU-MEL-3 ENST00000380106 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RP4-529N6.1 Clone_based_vega_gene ENSG00000205444 63 0 0.00 28 15 34.88 - - - KU-MEL-3 0 genome.wustl.edu 37 6 4611304 4611304 + RNA SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 6 4611304 4611304 C A SNP KU-MEL-3 ENST00000380106 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RP4-529N6.1 Clone_based_vega_gene ENSG00000205444 63 0 0.00 23 15 39.47 - - - LARP1 0 genome.wustl.edu 37 5 154182890 154182890 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 5 154182890 154182890 G A SNP LARP1 ENST00000336314 human ensembl 69_37n +1 known missense c.1919 p.R640Q 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 53 0 0.00 34 4 10.53 - - - LDB3 0 genome.wustl.edu 37 10 88447007 88447007 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 88447007 88447007 G T SNP LDB3 ENST00000429277 human ensembl 69_37n +1 known missense c.871 p.A291S 1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 82 0 0.00 32 4 11.11 - - - LDLRAD2 0 genome.wustl.edu 37 1 22138947 22138947 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 22138947 22138947 G T SNP LDLRAD2 ENST00000344642 human ensembl 69_37n +1 known missense c.3 p.M1I 0.971 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,superfamily_CUB,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD2 HGNC ENSG00000187942 40 0 0.00 14 3 17.65 - - - LEKR1 0 genome.wustl.edu 37 3 156710875 156710875 + Silent SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 156710875 156710875 G T SNP LEKR1 ENST00000356539 human ensembl 69_37n +1 known silent c.918 p.L306 0.988 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000178110 27 0 0.00 23 3 11.54 - - - LEPROTL1 0 genome.wustl.edu 37 8 29994831 29994831 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 8 29994831 29994831 C A SNP LEPROTL1 ENST00000523116 human ensembl 69_37n +1 known missense c.323 p.S108Y 0.005 NULL pfam_VPS55 - no_errors LEPROTL1 HGNC ENSG00000104660 52 0 0.00 34 4 10.53 - - - LGR4 0 genome.wustl.edu 37 11 27390168 27390168 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 27390168 27390168 G T SNP LGR4 ENST00000379214 human ensembl 69_37n -1 known missense c.2102 p.T701K 0.918 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 31 0 0.00 19 3 13.64 - - - LINC00265 0 genome.wustl.edu 37 7 39833586 39833586 + RNA SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 39833586 39833586 G A SNP LINC00265 ENST00000512765 human ensembl 69_37n +1 known rna NULL NULL 0.072 - - - no_errors LINC00265 HGNC ENSG00000188185 160 0 0.00 106 55 34.16 - - - LINC00265 0 genome.wustl.edu 37 7 39833586 39833586 + RNA SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 39833586 39833586 G A SNP LINC00265 ENST00000512765 human ensembl 69_37n +1 known rna NULL NULL 0.072 - - - no_errors LINC00265 HGNC ENSG00000188185 160 0 0.00 71 37 34.26 - - - LINC00313 0 genome.wustl.edu 37 21 44891426 44891426 + RNA SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 21 44891426 44891426 C A SNP LINC00313 ENST00000332440 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors LINC00313 HGNC ENSG00000185186 68 0 0.00 22 4 15.38 - - - LINC00667 0 genome.wustl.edu 37 18 5233049 5233049 + RNA SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 18 5233049 5233049 C A SNP LINC00667 ENST00000458396 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors LINC00667 HGNC ENSG00000263753 50 0 0.00 34 4 10.53 - - - LRP1B 0 genome.wustl.edu 37 2 141283540 141283540 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 2 141283540 141283540 G A SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known silent c.7899 p.F2633 1.000 superfamily_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 77 0 0.00 38 22 36.67 - - - LRP1B 0 genome.wustl.edu 37 2 141283540 141283540 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 141283540 141283540 G A SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known silent c.7899 p.F2633 1.000 superfamily_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 75 0 0.00 56 24 30.00 - - - LRP1B 0 genome.wustl.edu 37 2 141283540 141283540 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 141283540 141283540 G A SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known silent c.7899 p.F2633 1.000 superfamily_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 75 0 0.00 57 23 28.75 - - - LRRC37A2 0 genome.wustl.edu 37 17 44625866 44625866 + Missense_Mutation SNP A A C TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 44625866 44625866 A C SNP LRRC37A2 ENST00000333412 human ensembl 69_37n +1 known missense c.3361 p.S1121R 0.911 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 14 0 0.00 3 3 50.00 - - - LRRFIP2 0 genome.wustl.edu 37 3 37169138 37169138 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 37169138 37169138 G T SNP LRRFIP2 ENST00000336686 human ensembl 69_37n -1 known missense c.211 p.Q71K 1.000 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr,superfamily_HLH_DNA-bd,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 44 0 0.00 27 3 10.00 - - - LSG1 0 genome.wustl.edu 37 3 194379815 194379815 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 194379815 194379815 C A SNP LSG1 ENST00000265245 human ensembl 69_37n -1 known silent c.630 p.L210 1.000 NULL pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 59 0 0.00 33 4 10.81 - - - MADD 0 genome.wustl.edu 37 11 47314093 47314093 + Splice_Site SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 47314093 47314093 G A SNP MADD ENST00000311027 human ensembl 69_37n +1 known splice_site c.3362-1 e20-1 1.000 - - - no_errors MADD HGNC ENSG00000110514 27 0 0.00 13 3 18.75 - - - MAK16 0 genome.wustl.edu 37 8 33346271 33346271 + Nonsense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 8 33346271 33346271 G T SNP MAK16 ENST00000518389 human ensembl 69_37n +1 known nonsense c.202 p.E68* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAK16 HGNC ENSG00000198042 50 0 0.00 35 6 14.63 - - - MAPKBP1 0 genome.wustl.edu 37 15 42114192 42114192 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 42114192 42114192 G T SNP MAPKBP1 ENST00000456763 human ensembl 69_37n +1 known missense c.2933 p.G978V 0.978 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 55 0 0.00 31 4 11.43 - - - MEFV 0 genome.wustl.edu 37 16 3297243 3297243 + Nonsense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 3297243 3297243 G A SNP MEFV ENST00000219596 human ensembl 69_37n -1 known nonsense c.1360 p.Q454* 0.329 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 56 0 0.00 25 4 13.79 - - - MEN1 0 genome.wustl.edu 37 11 64575422 64575422 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 64575422 64575422 G T SNP MEN1 ENST00000337652 human ensembl 69_37n -1 known missense c.610 p.H204N 1.000 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 87 0 0.00 32 4 11.11 - - - MIR22HG 0 genome.wustl.edu 37 17 1615490 1615490 + RNA SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 1615490 1615490 C A SNP MIR22HG ENST00000334146 human ensembl 69_37n -1 known rna NULL NULL 0.281 - - - no_errors MIR22HG HGNC ENSG00000186594 29 0 0.00 18 3 14.29 - - - MLL 0 genome.wustl.edu 37 11 118354912 118354912 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 118354912 118354912 G A SNP MLL ENST00000389506 human ensembl 69_37n +1 known silent c.4101 p.P1367 0.002 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 39 0 0.00 25 6 19.35 - - - MLL2 0 genome.wustl.edu 37 12 49438733 49438733 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 49438733 49438733 C A SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.4757 p.R1586L 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 61 0 0.00 27 3 10.00 - - - MMP3 0 genome.wustl.edu 37 11 102709951 102709951 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 102709951 102709951 C A SNP MMP3 ENST00000299855 human ensembl 69_37n -1 known missense c.959 p.R320M 0.431 pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP3 HGNC ENSG00000149968 47 0 0.00 30 4 11.76 - - - MPRIP 0 genome.wustl.edu 37 17 17075095 17075095 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 17075095 17075095 C A SNP MPRIP ENST00000395811 human ensembl 69_37n +1 known missense c.2227 p.Q743K 1.000 superfamily_Ferritin/RR-like pfam_Pleckstrin_homology,superfamily_Ferritin/RR-like,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 64 0 0.00 44 5 10.20 - - - MTOR 0 genome.wustl.edu 37 1 11294317 11294317 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 11294317 11294317 C A SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.2214 p.L738F 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 53 0 0.00 17 4 19.05 - - - MTUS1 0 genome.wustl.edu 37 8 17541837 17541837 + Silent SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 8 17541837 17541837 C T SNP MTUS1 ENST00000262102 human ensembl 69_37n -1 known silent c.2838 p.E946 1.000 NULL superfamily_Ferritin/RR-like - no_errors MTUS1 HGNC ENSG00000129422 66 0 0.00 31 4 11.43 - - - MX1 0 genome.wustl.edu 37 21 42812847 42812847 + Nonsense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 21 42812847 42812847 C T SNP MX1 ENST00000398598 human ensembl 69_37n +1 known nonsense c.625 p.Q209* 0.993 pfam_Dynamin_GTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX1 HGNC ENSG00000157601 78 0 0.00 34 4 10.26 - - - MXRA5 0 genome.wustl.edu 37 X 3229372 3229372 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 3229372 3229372 G A SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.6872 p.S2291L 0.223 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 76 0 0.00 33 4 10.81 - - - MYL9 0 genome.wustl.edu 37 20 35177504 35177504 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 20 35177504 35177504 G A SNP MYL9 ENST00000279022 human ensembl 69_37n +1 known missense c.371 p.R124Q 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL9 HGNC ENSG00000101335 66 0 0.00 27 4 12.90 - - - MYO15A 0 genome.wustl.edu 37 17 18058670 18058670 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 17 18058670 18058670 G A SNP MYO15A ENST00000205890 human ensembl 69_37n +1 known missense c.8383 p.V2795M 0.082 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 19 0 0.00 19 6 24.00 - - - MYO15A 0 genome.wustl.edu 37 17 18058670 18058670 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 18058670 18058670 G A SNP MYO15A ENST00000205890 human ensembl 69_37n +1 known missense c.8383 p.V2795M 0.082 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 49 0 0.00 69 22 24.18 - - - MYO15A 0 genome.wustl.edu 37 17 18058670 18058670 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 18058670 18058670 G A SNP MYO15A ENST00000205890 human ensembl 69_37n +1 known missense c.8383 p.V2795M 0.082 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 49 0 0.00 22 7 24.14 - - - MYO9A 0 genome.wustl.edu 37 15 72120232 72120232 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 72120232 72120232 C A SNP MYO9A ENST00000424560 human ensembl 69_37n -1 known missense c.7389 p.E2463D 0.643 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 48 0 0.00 31 4 11.43 - - - NACAD 0 genome.wustl.edu 37 7 45125692 45125692 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 45125692 45125692 G A SNP NACAD ENST00000490531 human ensembl 69_37n -1 known silent c.87 p.A29 0.025 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 20 0 0.00 4 4 50.00 - - - NDUFV1 0 genome.wustl.edu 37 11 67376142 67376142 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 67376142 67376142 G T SNP NDUFV1 ENST00000322776 human ensembl 69_37n +1 known missense c.275 p.G92V 1.000 pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 73 0 0.00 35 4 10.26 - - - NEB 0 genome.wustl.edu 37 2 152474877 152474877 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 152474877 152474877 C T SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.10988 p.R3663H 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 37 0 0.00 36 4 10.00 - - - NECAB3 0 genome.wustl.edu 37 20 32257196 32257196 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 20 32257196 32257196 C A SNP NECAB3 ENST00000246190 human ensembl 69_37n -1 known missense c.372 p.M124I 1.000 NULL pfam_Antibiotic_mOase,pfam_EF-hand,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB3 HGNC ENSG00000125967 53 0 0.00 31 4 11.43 - - - NEU1 0 genome.wustl.edu 37 6 31830428 31830428 + Silent SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 6 31830428 31830428 G T SNP NEU1 ENST00000375631 human ensembl 69_37n -1 known silent c.126 p.A42 0.000 NULL superfamily_Neuraminidase - no_errors NEU1 HGNC ENSG00000204386 84 0 0.00 43 5 10.42 - - - NF1 0 genome.wustl.edu 37 17 29653066 29653066 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 29653066 29653066 G A SNP NF1 ENST00000358273 human ensembl 69_37n +1 known silent c.5064 p.E1688 0.999 superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 60 0 0.00 45 5 10.00 - - - NFE2L2 0 genome.wustl.edu 37 2 178098803 178098803 + Splice_Site SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 2 178098803 178098803 C T SNP NFE2L2 ENST00000449627 human ensembl 69_37n -1 novel splice_site c.193+1 e1+1 1.000 - - - no_stop_codon:bad_bp_length_for_coding_region NFE2L2 HGNC ENSG00000116044 154 0 0.00 91 41 31.06 - - - NFE2L2 0 genome.wustl.edu 37 2 178098803 178098803 + Splice_Site SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 178098803 178098803 C T SNP NFE2L2 ENST00000449627 human ensembl 69_37n -1 novel splice_site c.193+1 e1+1 1.000 - - - no_stop_codon:bad_bp_length_for_coding_region NFE2L2 HGNC ENSG00000116044 202 0 0.00 90 59 39.33 - - - NFE2L2 0 genome.wustl.edu 37 2 178098803 178098803 + Splice_Site SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 178098803 178098803 C T SNP NFE2L2 ENST00000449627 human ensembl 69_37n -1 novel splice_site c.193+1 e1+1 1.000 - - - no_stop_codon:bad_bp_length_for_coding_region NFE2L2 HGNC ENSG00000116044 202 0 0.00 168 70 29.29 - - - NLGN1 0 genome.wustl.edu 37 3 173998682 173998682 + Silent SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 173998682 173998682 G T SNP NLGN1 ENST00000401917 human ensembl 69_37n +1 known silent c.2181 p.L727 0.720 prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 57 0 0.00 23 3 11.54 - - - NRCAM 0 genome.wustl.edu 37 7 107788595 107788595 + RNA SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 107788595 107788595 C T SNP NRCAM ENST00000522550 human ensembl 69_37n -1 known rna NULL NULL 0.881 - - - no_errors NRCAM HGNC ENSG00000091129 56 0 0.00 33 4 10.81 - - - NTNG2 0 genome.wustl.edu 37 9 135116406 135116406 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 9 135116406 135116406 G A SNP NTNG2 ENST00000360670 human ensembl 69_37n +1 known silent c.1350 p.T450 0.998 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 19 0 0.00 13 8 38.10 - - - NTNG2 0 genome.wustl.edu 37 9 135116406 135116406 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 9 135116406 135116406 G A SNP NTNG2 ENST00000360670 human ensembl 69_37n +1 known silent c.1350 p.T450 0.998 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 19 0 0.00 5 6 54.55 - - - OOEP 0 genome.wustl.edu 37 6 74078938 74078938 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 6 74078938 74078938 G T SNP OOEP ENST00000370359 human ensembl 69_37n -1 known missense c.361 p.R121S 0.001 NULL NULL - no_errors OOEP HGNC ENSG00000203907 49 0 0.00 35 4 10.26 - - - OPRK1 0 genome.wustl.edu 37 8 54142078 54142078 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 8 54142078 54142078 C A SNP OPRK1 ENST00000265572 human ensembl 69_37n -1 known missense c.922 p.A308S 0.657 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Kappa_opi_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Kappa_opi_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,prints_P2_purnocptor - no_errors OPRK1 HGNC ENSG00000082556 33 0 0.00 16 3 15.79 - - - OR10A3 0 genome.wustl.edu 37 11 7961001 7961001 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 7961001 7961001 G T SNP OR10A3 ENST00000360759 human ensembl 69_37n -1 known missense c.67 p.L23I 0.974 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10A3 HGNC ENSG00000170683 36 0 0.00 26 3 10.34 - - - OR11H1 0 genome.wustl.edu 37 22 16449539 16449539 + Missense_Mutation SNP A A G TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 22 16449539 16449539 A G SNP OR11H1 ENST00000252835 human ensembl 69_37n -1 known missense c.266 p.V89A 0.234 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 OR11H1 HGNC ENSG00000130538 48 0 0.00 35 5 12.50 - - - OR6J1 0 genome.wustl.edu 37 14 23103063 23103063 + Silent SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 14 23103063 23103063 C T SNP OR6J1 ENST00000540461 human ensembl 69_37n -1 known silent c.654 p.T218 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6J1 HGNC ENSG00000255804 53 0 0.00 26 3 10.34 - - - OR8J1 0 genome.wustl.edu 37 11 56128623 56128623 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 56128623 56128623 G T SNP OR8J1 ENST00000303039 human ensembl 69_37n +1 known missense c.901 p.A301S 0.236 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR8J1 HGNC ENSG00000172487 34 0 0.00 11 3 21.43 - - - OVGP1 0 genome.wustl.edu 37 1 111962288 111962288 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 111962288 111962288 C T SNP OVGP1 ENST00000369732 human ensembl 69_37n -1 known missense c.964 p.A322T 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 80 0 0.00 30 4 11.43 - - - OXT 0 genome.wustl.edu 37 20 3052805 3052805 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 20 3052805 3052805 G A SNP OXT ENST00000217386 human ensembl 69_37n +1 known missense c.203 p.G68D 1.000 pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,pirsf_Neurhyp_horm,prints_Neurhyp_horm pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,pirsf_Neurhyp_horm,prints_Neurhyp_horm - no_errors OXT HGNC ENSG00000101405 12 0 0.00 6 4 40.00 - - - PARM1 0 genome.wustl.edu 37 4 75937958 75937958 + Nonsense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 4 75937958 75937958 G T SNP PARM1 ENST00000307428 human ensembl 69_37n +1 known nonsense c.367 p.E123* 0.000 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 49 0 0.00 26 3 10.34 - - - PCGF1 0 genome.wustl.edu 37 2 74734188 74734188 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 2 74734188 74734188 G A SNP PCGF1 ENST00000233630 human ensembl 69_37n -1 known silent c.180 p.I60 0.996 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF1 HGNC ENSG00000115289 63 0 0.00 41 25 37.88 - - - PCGF1 0 genome.wustl.edu 37 2 74734188 74734188 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 74734188 74734188 G A SNP PCGF1 ENST00000233630 human ensembl 69_37n -1 known silent c.180 p.I60 0.996 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF1 HGNC ENSG00000115289 93 0 0.00 59 22 27.16 - - - PCGF1 0 genome.wustl.edu 37 2 74734188 74734188 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 74734188 74734188 G A SNP PCGF1 ENST00000233630 human ensembl 69_37n -1 known silent c.180 p.I60 0.996 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF1 HGNC ENSG00000115289 93 0 0.00 41 14 25.45 - - - PCNXL2 0 genome.wustl.edu 37 1 233394705 233394705 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 233394705 233394705 G T SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.903 p.S301R 0.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 57 0 0.00 36 4 10.00 - - - PCYT2 0 genome.wustl.edu 37 17 79865456 79865456 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 79865456 79865456 G A SNP PCYT2 ENST00000538721 human ensembl 69_37n -1 known missense c.511 p.R171W 1.000 NULL pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel - no_errors PCYT2 HGNC ENSG00000185813 77 0 0.00 17 3 14.29 - - - PDZD2 0 genome.wustl.edu 37 5 32090982 32090982 + Silent SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 5 32090982 32090982 C T SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known silent c.7428 p.P2476 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 31 0 0.00 15 3 16.67 - - - PHC2 0 genome.wustl.edu 37 1 33799862 33799862 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 33799862 33799862 G A SNP PHC2 ENST00000419414 human ensembl 69_37n -1 known silent c.1590 p.T530 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 41 0 0.00 16 3 15.79 - - - PHKA2 0 genome.wustl.edu 37 X 18912444 18912444 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 18912444 18912444 G T SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known missense c.3415 p.L1139M 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 76 0 0.00 29 4 12.12 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 89 0 0.00 54 28 34.15 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 75 0 0.00 48 23 32.39 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 75 0 0.00 95 30 23.81 - - - PITPNB 0 genome.wustl.edu 37 22 28292596 28292596 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 28292596 28292596 C A SNP PITPNB ENST00000455418 human ensembl 69_37n -1 known missense c.322 p.D108Y 1.000 pfam_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNB HGNC ENSG00000180957 38 0 0.00 26 4 13.33 - - - PLAC8 0 genome.wustl.edu 37 4 84026073 84026073 + Silent SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 4 84026073 84026073 G T SNP PLAC8 ENST00000311507 human ensembl 69_37n -1 known silent c.219 p.L73 1.000 pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors PLAC8 HGNC ENSG00000145287 51 0 0.00 35 4 10.26 - - - PLVAP 0 genome.wustl.edu 37 19 17476399 17476399 + Missense_Mutation SNP G G T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 19 17476399 17476399 G T SNP PLVAP ENST00000252590 human ensembl 69_37n -1 known missense c.875 p.A292E 0.000 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 23 0 0.00 23 6 20.69 - - - PLVAP 0 genome.wustl.edu 37 19 17476399 17476399 + Missense_Mutation SNP G G T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 17476399 17476399 G T SNP PLVAP ENST00000252590 human ensembl 69_37n -1 known missense c.875 p.A292E 0.000 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 72 0 0.00 52 26 33.33 - - - PLVAP 0 genome.wustl.edu 37 19 17476399 17476399 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 17476399 17476399 G T SNP PLVAP ENST00000252590 human ensembl 69_37n -1 known missense c.875 p.A292E 0.000 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 72 0 0.00 25 11 30.56 - - - POLDIP2 0 genome.wustl.edu 37 17 26677486 26677486 + RNA SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 26677486 26677486 C T SNP POLDIP2 ENST00000003607 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors POLDIP2 HGNC ENSG00000004142 46 0 0.00 23 3 11.11 - - - POLQ 0 genome.wustl.edu 37 3 121206758 121206758 + Nonsense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 121206758 121206758 C A SNP POLQ ENST00000264233 human ensembl 69_37n -1 known nonsense c.5020 p.E1674* 0.005 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 33 0 0.00 27 4 12.50 - - - PPP1R12C 0 genome.wustl.edu 37 19 55614936 55614936 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 55614936 55614936 C A SNP PPP1R12C ENST00000263433 human ensembl 69_37n -1 known missense c.572 p.G191V 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 50 0 0.00 20 3 13.04 - - - PPP1R1A 0 genome.wustl.edu 37 12 54975905 54975905 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 54975905 54975905 C A SNP PPP1R1A ENST00000257905 human ensembl 69_37n -1 known missense c.258 p.M86I 1.000 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 53 0 0.00 32 4 11.11 - - - PPP1R9A 0 genome.wustl.edu 37 7 94898540 94898540 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 94898540 94898540 C T SNP PPP1R9A ENST00000456331 human ensembl 69_37n +1 known missense c.2779 p.H927Y 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_Smac_DIABLO-like,smart_PDZ,pfscan_PDZ - no_errors PPP1R9A HGNC ENSG00000158528 36 0 0.00 20 3 13.04 - - - PRDM15 0 genome.wustl.edu 37 21 43248563 43248563 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 21 43248563 43248563 C T SNP PRDM15 ENST00000269844 human ensembl 69_37n -1 known missense c.2591 p.R864H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 90 0 0.00 34 4 10.26 - - - PRKAG3 0 genome.wustl.edu 37 2 219692583 219692583 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 2 219692583 219692583 C T SNP PRKAG3 ENST00000233944 human ensembl 69_37n -1 known missense c.793 p.E265K 1.000 NULL pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG3 HGNC ENSG00000115592 102 0 0.00 42 17 28.81 - - - PRKAG3 0 genome.wustl.edu 37 2 219692583 219692583 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 219692583 219692583 C T SNP PRKAG3 ENST00000233944 human ensembl 69_37n -1 known missense c.793 p.E265K 1.000 NULL pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG3 HGNC ENSG00000115592 82 0 0.00 50 21 29.58 - - - PRKAG3 0 genome.wustl.edu 37 2 219692583 219692583 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 219692583 219692583 C T SNP PRKAG3 ENST00000233944 human ensembl 69_37n -1 known missense c.793 p.E265K 1.000 NULL pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core - no_errors PRKAG3 HGNC ENSG00000115592 82 0 0.00 27 19 41.30 - - - PRRC2C 0 genome.wustl.edu 37 1 171501813 171501813 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 171501813 171501813 G A SNP PRRC2C ENST00000392078 human ensembl 69_37n +1 known missense c.1586 p.R529Q 0.343 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 29 0 0.00 31 4 11.43 - - - PRUNE 0 genome.wustl.edu 37 1 151006580 151006580 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 151006580 151006580 C A SNP PRUNE ENST00000271620 human ensembl 69_37n +1 known missense c.1232 p.P411H 1.000 NULL pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 49 0 0.00 37 5 11.90 - - - PTPN5 0 genome.wustl.edu 37 11 18762218 18762218 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 18762218 18762218 G T SNP PTPN5 ENST00000358540 human ensembl 69_37n -1 known missense c.847 p.R283S 0.880 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,prints_Tyr_Pase_KIM-con pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 90 0 0.00 20 3 13.04 - - - QSOX2 0 genome.wustl.edu 37 9 139101011 139101011 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 9 139101011 139101011 C T SNP QSOX2 ENST00000358701 human ensembl 69_37n -1 known missense c.1660 p.V554M 1.000 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 30 0 0.00 24 16 40.00 - - - QSOX2 0 genome.wustl.edu 37 9 139101011 139101011 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 9 139101011 139101011 C T SNP QSOX2 ENST00000358701 human ensembl 69_37n -1 known missense c.1660 p.V554M 1.000 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 111 0 0.00 71 22 23.66 - - - QSOX2 0 genome.wustl.edu 37 9 139101011 139101011 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 9 139101011 139101011 C T SNP QSOX2 ENST00000358701 human ensembl 69_37n -1 known missense c.1660 p.V554M 1.000 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 111 0 0.00 44 22 33.33 - - - RAB39B 0 genome.wustl.edu 37 X 154490240 154490240 + Missense_Mutation SNP A A C TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 154490240 154490240 A C SNP RAB39B ENST00000369454 human ensembl 69_37n -1 known missense c.490 p.F164V 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB39B HGNC ENSG00000155961 126 0 0.00 66 45 40.54 - - - RAB39B 0 genome.wustl.edu 37 X 154490240 154490240 + Missense_Mutation SNP A A C TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 154490240 154490240 A C SNP RAB39B ENST00000369454 human ensembl 69_37n -1 known missense c.490 p.F164V 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB39B HGNC ENSG00000155961 126 0 0.00 43 15 25.86 - - - RAB39B 0 genome.wustl.edu 37 X 154490246 154490246 + Missense_Mutation SNP T T C TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 154490246 154490246 T C SNP RAB39B ENST00000369454 human ensembl 69_37n -1 known missense c.484 p.K162E 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB39B HGNC ENSG00000155961 122 0 0.00 64 47 42.34 - - - RAB39B 0 genome.wustl.edu 37 X 154490246 154490246 + Missense_Mutation SNP T T C TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 154490246 154490246 T C SNP RAB39B ENST00000369454 human ensembl 69_37n -1 known missense c.484 p.K162E 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB39B HGNC ENSG00000155961 122 0 0.00 45 15 24.59 - - - RAI1 0 genome.wustl.edu 37 17 17700557 17700557 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 17700557 17700557 C A SNP RAI1 ENST00000353383 human ensembl 69_37n +1 known missense c.4295 p.P1432Q 0.954 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 38 0 0.00 13 3 18.75 - - - RBM39 0 genome.wustl.edu 37 20 34293206 34293206 + Nonsense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 20 34293206 34293206 C A SNP RBM39 ENST00000253363 human ensembl 69_37n -1 known nonsense c.1354 p.E452* 1.000 smart_RRM_dom_euk,smart_RRM_dom,tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM39 HGNC ENSG00000131051 50 0 0.00 32 4 10.81 - - - RBMXL3 0 genome.wustl.edu 37 X 114424597 114424597 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 114424597 114424597 G T SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known missense c.593 p.R198L 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 17 0 0.00 8 3 27.27 - - - RBMXL3 0 genome.wustl.edu 37 X 114424746 114424746 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca X 114424746 114424746 G A SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known missense c.742 p.D248N 0.001 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 8 0 0.00 4 5 55.56 - - - RBMXL3 0 genome.wustl.edu 37 X 114424746 114424746 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 114424746 114424746 G A SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known missense c.742 p.D248N 0.001 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 21 0 0.00 24 12 33.33 - - - RGR 0 genome.wustl.edu 37 10 86004876 86004876 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 86004876 86004876 C A SNP RGR ENST00000359452 human ensembl 69_37n +1 known silent c.30 p.G10 0.998 prints_RPE_GPCR pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_RPE_GPCR,prints_7TM_GPCR_Rhodpsn - no_errors RGR HGNC ENSG00000148604 78 0 0.00 32 4 11.11 - - - RNASEH2B 0 genome.wustl.edu 37 13 51522140 51522140 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 13 51522140 51522140 G T SNP RNASEH2B ENST00000336617 human ensembl 69_37n +1 known missense c.634 p.A212S 1.000 pfam_RNase_H2_suB pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 35 0 0.00 20 4 16.67 - - - RNASEL 0 genome.wustl.edu 37 1 182555755 182555755 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 182555755 182555755 G T SNP RNASEL ENST00000367559 human ensembl 69_37n -1 known missense c.187 p.L63M 0.001 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors RNASEL HGNC ENSG00000135828 59 0 0.00 31 4 11.43 - - - RNF207 0 genome.wustl.edu 37 1 6272027 6272027 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 6272027 6272027 C T SNP RNF207 ENST00000377948 human ensembl 69_37n +1 known missense c.362 p.P121L 1.000 NULL NULL - no_errors RNF207 HGNC ENSG00000158286 24 0 0.00 5 11 68.75 - - - RNF207 0 genome.wustl.edu 37 1 6272027 6272027 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 6272027 6272027 C T SNP RNF207 ENST00000377948 human ensembl 69_37n +1 known missense c.362 p.P121L 1.000 NULL NULL - no_errors RNF207 HGNC ENSG00000158286 24 0 0.00 3 5 62.50 - - - RNF213 0 genome.wustl.edu 37 17 78341933 78341933 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 78341933 78341933 C A SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.12145 p.Q4049K 0.287 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 79 0 0.00 35 4 10.26 - - - ROBO4 0 genome.wustl.edu 37 11 124763885 124763885 + Nonsense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 124763885 124763885 C A SNP ROBO4 ENST00000306534 human ensembl 69_37n -1 known nonsense c.1375 p.E459* 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO4 HGNC ENSG00000154133 81 0 0.00 36 4 10.00 - - - RPAP1 0 genome.wustl.edu 37 15 41812534 41812534 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 41812534 41812534 C T SNP RPAP1 ENST00000562303 human ensembl 69_37n -1 known missense c.3850 p.A1284T 0.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 50 0 0.00 15 3 16.67 - - - RPGRIP1L 0 genome.wustl.edu 37 16 53734594 53734594 + Silent SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 53734594 53734594 C T SNP RPGRIP1L ENST00000379925 human ensembl 69_37n -1 known silent c.42 p.V14 1.000 NULL pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RPGRIP1L HGNC ENSG00000103494 26 0 0.00 18 4 18.18 - - - RREB1 0 genome.wustl.edu 37 6 7246803 7246803 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 6 7246803 7246803 G T SNP RREB1 ENST00000379938 human ensembl 69_37n +1 known missense c.4120 p.A1374S 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 58 0 0.00 35 4 10.26 - - - RTKN 0 genome.wustl.edu 37 2 74659707 74659707 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 74659707 74659707 C A SNP RTKN ENST00000272430 human ensembl 69_37n -1 known missense c.198 p.E66D 0.997 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN HGNC ENSG00000114993 67 0 0.00 22 3 12.00 - - - RUNX1 0 genome.wustl.edu 37 21 36252994 36252995 + Frame_Shift_Ins INS - - C TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 21 36252994 36252995 - C INS RUNX1 ENST00000300305 human ensembl 69_37n -1 known frame_shift_ins c.368_367 p.D123fs 0.999:1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 95 0 0.00 34 12 26.09 - - - RUNX1 0 genome.wustl.edu 37 21 36252994 36252995 + Frame_Shift_Ins INS - - C TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 21 36252994 36252995 - C INS RUNX1 ENST00000300305 human ensembl 69_37n -1 known frame_shift_ins c.368_367 p.D123fs 0.999:1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 72 0 0.00 32 10 23.81 - - - RUNX1 0 genome.wustl.edu 37 21 36252994 36252995 + Frame_Shift_Ins INS - - C TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 21 36252994 36252995 - C INS RUNX1 ENST00000300305 human ensembl 69_37n -1 known frame_shift_ins c.368_367 p.D123fs 0.999:1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 72 0 0.00 22 10 31.25 - - - SCNM1 0 genome.wustl.edu 37 1 151139900 151139900 + RNA SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 151139900 151139900 G A SNP SCNM1 ENST00000461862 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors SCNM1 HGNC ENSG00000163156 37 0 0.00 19 3 13.64 - - - SDK2 0 genome.wustl.edu 37 17 71375348 71375348 + Missense_Mutation SNP C C A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 17 71375348 71375348 C A SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.4948 p.D1650Y 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 51 0 0.00 19 17 47.22 - - - SDK2 0 genome.wustl.edu 37 17 71375348 71375348 + Missense_Mutation SNP C C A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 71375348 71375348 C A SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.4948 p.D1650Y 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 84 0 0.00 58 32 35.56 - - - SDK2 0 genome.wustl.edu 37 17 71375348 71375348 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 71375348 71375348 C A SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.4948 p.D1650Y 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 84 0 0.00 14 17 53.12 - - - SETD1A 0 genome.wustl.edu 37 16 30982699 30982699 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 16 30982699 30982699 G T SNP SETD1A ENST00000262519 human ensembl 69_37n +1 known missense c.3017 p.G1006V 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 48 0 0.00 22 4 15.38 - - - SFI1 0 genome.wustl.edu 37 22 32003986 32003986 + Missense_Mutation SNP G G T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 22 32003986 32003986 G T SNP SFI1 ENST00000400288 human ensembl 69_37n +1 known missense c.2221 p.A741S 0.002 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 32 0 0.00 7 13 65.00 - - - SFI1 0 genome.wustl.edu 37 22 32003986 32003986 + Missense_Mutation SNP G G T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 32003986 32003986 G T SNP SFI1 ENST00000400288 human ensembl 69_37n +1 known missense c.2221 p.A741S 0.002 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 89 0 0.00 31 46 59.74 - - - SFI1 0 genome.wustl.edu 37 22 32003986 32003986 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 32003986 32003986 G T SNP SFI1 ENST00000400288 human ensembl 69_37n +1 known missense c.2221 p.A741S 0.002 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 89 0 0.00 23 19 45.24 - - - SIX3 0 genome.wustl.edu 37 2 45169961 45169961 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 45169961 45169961 G T SNP SIX3 ENST00000260653 human ensembl 69_37n +1 known missense c.718 p.A240S 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX3 HGNC ENSG00000138083 65 0 0.00 30 4 11.76 - - - SKOR2 0 genome.wustl.edu 37 18 44773244 44773244 + Nonsense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 18 44773244 44773244 C A SNP SKOR2 ENST00000425639 human ensembl 69_37n -1 novel nonsense c.2311 p.E771* 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like,superfamily_FH2_actin-bd - no_errors SKOR2 HGNC ENSG00000215474 51 0 0.00 20 3 12.50 - - - SLC10A4 0 genome.wustl.edu 37 4 48486056 48486056 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 4 48486056 48486056 G A SNP SLC10A4 ENST00000273861 human ensembl 69_37n +1 known missense c.478 p.A160T 0.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 13 0 0.00 2 5 71.43 - - - SLC10A4 0 genome.wustl.edu 37 4 48486056 48486056 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 4 48486056 48486056 G A SNP SLC10A4 ENST00000273861 human ensembl 69_37n +1 known missense c.478 p.A160T 0.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 30 0 0.00 17 15 46.88 - - - SLC15A1 0 genome.wustl.edu 37 13 99360958 99360958 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 13 99360958 99360958 G A SNP SLC15A1 ENST00000376503 human ensembl 69_37n -1 known silent c.1131 p.I377 0.946 pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport - no_errors SLC15A1 HGNC ENSG00000088386 30 0 0.00 17 3 14.29 - - - SLC16A5 0 genome.wustl.edu 37 17 73100138 73100138 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 73100138 73100138 C A SNP SLC16A5 ENST00000329783 human ensembl 69_37n +1 known silent c.1227 p.A409 0.841 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 59 0 0.00 26 4 13.33 - - - SLC19A1 0 genome.wustl.edu 37 21 46934897 46934897 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 21 46934897 46934897 G A SNP SLC19A1 ENST00000380010 human ensembl 69_37n -1 putative missense c.1463 p.P488L 0.000 NULL pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 56 0 0.00 29 4 12.12 - - - SLC35C2 0 genome.wustl.edu 37 20 44978848 44978849 + RNA INS - - A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 20 44978848 44978849 - A INS SLC35C2 ENST00000493599 human ensembl 69_37n -1 known rna NULL NULL 0.001:0.000 - - - no_errors SLC35C2 HGNC ENSG00000080189 27 0 0.00 8 2 20.00 - - - SLC35F3 0 genome.wustl.edu 37 1 234040838 234040838 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 234040838 234040838 G A SNP SLC35F3 ENST00000366618 human ensembl 69_37n +1 known silent c.15 p.E5 1.000 NULL pfam_DMT,pfam_DUF250,pfam_DUF914_euk - no_errors SLC35F3 HGNC ENSG00000183780 29 0 0.00 28 4 12.50 - - - SLC37A2 0 genome.wustl.edu 37 11 124951757 124951757 + Silent SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 124951757 124951757 C T SNP SLC37A2 ENST00000308074 human ensembl 69_37n +1 known silent c.840 p.C280 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 51 0 0.00 34 4 10.53 - - - SLC4A2 0 genome.wustl.edu 37 7 150773425 150773425 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 7 150773425 150773425 G A SNP SLC4A2 ENST00000413384 human ensembl 69_37n +1 known missense c.3697 p.E1233K 0.999 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 36 0 0.00 13 6 31.58 - - - SLC4A2 0 genome.wustl.edu 37 7 150773425 150773425 + Missense_Mutation SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 150773425 150773425 G A SNP SLC4A2 ENST00000413384 human ensembl 69_37n +1 known missense c.3697 p.E1233K 0.999 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 101 0 0.00 57 38 40.00 - - - SLC4A2 0 genome.wustl.edu 37 7 150773425 150773425 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 150773425 150773425 G A SNP SLC4A2 ENST00000413384 human ensembl 69_37n +1 known missense c.3697 p.E1233K 0.999 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 101 0 0.00 49 20 28.99 - - - SMCR7L 0 genome.wustl.edu 37 22 39909831 39909831 + Nonsense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 39909831 39909831 G T SNP SMCR7L ENST00000325301 human ensembl 69_37n +1 known nonsense c.895 p.E299* 1.000 NULL NULL - no_errors SMCR7L HGNC ENSG00000100335 57 0 0.00 23 4 14.81 - - - SNX8 0 genome.wustl.edu 37 7 2297110 2297110 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 2297110 2297110 G T SNP SNX8 ENST00000222990 human ensembl 69_37n -1 known missense c.1024 p.H342N 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 48 0 0.00 19 4 17.39 - - - SNX8 0 genome.wustl.edu 37 7 2309218 2309218 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 2309218 2309218 G A SNP SNX8 ENST00000222990 human ensembl 69_37n -1 known silent c.597 p.N199 0.995 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 36 0 0.00 24 4 13.79 - - - SPHK1 0 genome.wustl.edu 37 17 74383309 74383309 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 17 74383309 74383309 C T SNP SPHK1 ENST00000323374 human ensembl 69_37n +1 known missense c.1055 p.S352L 0.999 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 32 0 0.00 24 7 22.58 - - - SPHK1 0 genome.wustl.edu 37 17 74383309 74383309 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 74383309 74383309 C T SNP SPHK1 ENST00000323374 human ensembl 69_37n +1 known missense c.1055 p.S352L 0.999 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 65 0 0.00 31 9 22.50 - - - SSBP3 0 genome.wustl.edu 37 1 54717521 54717521 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 54717521 54717521 C A SNP SSBP3 ENST00000371320 human ensembl 69_37n -1 known missense c.520 p.V174F 1.000 pfam_SSDP_ss-bd pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 84 0 0.00 32 4 11.11 - - - STAG3 0 genome.wustl.edu 37 7 99795228 99795228 + RNA SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 99795228 99795228 G T SNP STAG3 ENST00000440830 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors STAG3 HGNC ENSG00000066923 46 0 0.00 38 7 15.56 - - - STARD13 0 genome.wustl.edu 37 13 33704162 33704162 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 13 33704162 33704162 C A SNP STARD13 ENST00000336934 human ensembl 69_37n -1 known missense c.652 p.D218Y 0.945 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 37 0 0.00 15 3 16.67 - - - STARD3 0 genome.wustl.edu 37 17 37809761 37809761 + RNA SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 17 37809761 37809761 G T SNP STARD3 ENST00000460894 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors STARD3 HGNC ENSG00000131748 45 0 0.00 18 4 18.18 - - - STK10 0 genome.wustl.edu 37 5 171482663 171482663 + Nonsense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 5 171482663 171482663 C T SNP STK10 ENST00000520476 human ensembl 69_37n -1 putative nonsense c.273 p.W91* 1.000 pfam_PKK pfam_PKK - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region STK10 HGNC ENSG00000072786 56 0 0.00 18 3 14.29 - - - SYNC 0 genome.wustl.edu 37 1 33161497 33161497 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 33161497 33161497 C A SNP SYNC ENST00000409190 human ensembl 69_37n -1 known missense c.202 p.D68Y 0.260 NULL pfam_F - no_errors SYNC HGNC ENSG00000162520 39 0 0.00 23 4 14.81 - - - TBC1D17 0 genome.wustl.edu 37 19 50385589 50385589 + Nonsense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 50385589 50385589 G T SNP TBC1D17 ENST00000221543 human ensembl 69_37n +1 known nonsense c.730 p.G244* 0.959 NULL pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D17 HGNC ENSG00000104946 75 0 0.00 36 4 10.00 - - - TBX19 0 genome.wustl.edu 37 1 168283456 168283456 + RNA SNP C C G TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 168283456 168283456 C G SNP TBX19 ENST00000465440 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TBX19 HGNC ENSG00000143178 74 0 0.00 65 34 34.34 - - - TBX19 0 genome.wustl.edu 37 1 168283456 168283456 + RNA SNP C C G TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 168283456 168283456 C G SNP TBX19 ENST00000465440 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TBX19 HGNC ENSG00000143178 74 0 0.00 38 10 20.83 - - - TCF12 0 genome.wustl.edu 37 15 57213290 57213290 + Frame_Shift_Del DEL G G - TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 15 57213290 57213290 G - DEL TCF12 ENST00000438423 human ensembl 69_37n +1 known frame_shift_del c.142 p.G48fs 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF12 HGNC ENSG00000140262 54 0 0.00 37 6 13.64 - - - TCF12 0 genome.wustl.edu 37 15 57213290 57213290 + Frame_Shift_Del DEL G G - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 57213290 57213290 G - DEL TCF12 ENST00000438423 human ensembl 69_37n +1 known frame_shift_del c.142 p.G48fs 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF12 HGNC ENSG00000140262 35 0 0.00 29 6 17.14 - - - TCP11L2 0 genome.wustl.edu 37 12 106712207 106712207 + Nonsense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 106712207 106712207 G T SNP TCP11L2 ENST00000299045 human ensembl 69_37n +1 known nonsense c.379 p.E127* 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 41 0 0.00 18 3 14.29 - - - TEAD1 0 genome.wustl.edu 37 11 12902571 12902571 + Frame_Shift_Del DEL A A - TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 11 12902571 12902571 A - DEL TEAD1 ENST00000361905 human ensembl 69_37n +1 known frame_shift_del c.440 p.T148fs 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD1 HGNC ENSG00000187079 80 0 0.00 21 23 52.27 - - - TEAD1 0 genome.wustl.edu 37 11 12902571 12902571 + Frame_Shift_Del DEL A A - TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 12902571 12902571 A - DEL TEAD1 ENST00000361905 human ensembl 69_37n +1 known frame_shift_del c.440 p.T148fs 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD1 HGNC ENSG00000187079 81 0 0.00 26 27 50.94 - - - TEAD1 0 genome.wustl.edu 37 11 12902571 12902571 + Frame_Shift_Del DEL A A - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 12902571 12902571 A - DEL TEAD1 ENST00000361905 human ensembl 69_37n +1 known frame_shift_del c.440 p.T148fs 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD1 HGNC ENSG00000187079 81 0 0.00 22 13 37.14 - - - TEC 0 genome.wustl.edu 37 4 48147523 48147523 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 4 48147523 48147523 C A SNP TEC ENST00000381501 human ensembl 69_37n -1 known missense c.1155 p.R385S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom - no_errors TEC HGNC ENSG00000135605 42 0 0.00 24 4 14.29 - - - TET2 0 genome.wustl.edu 37 4 106155230 106155230 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 4 106155230 106155230 C A SNP TET2 ENST00000380013 human ensembl 69_37n +1 known missense c.131 p.A44D 0.001 NULL NULL - no_errors TET2 HGNC ENSG00000168769 35 0 0.00 16 5 23.81 - - - TH 0 genome.wustl.edu 37 11 2188135 2188135 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 2188135 2188135 C A SNP TH ENST00000381178 human ensembl 69_37n -1 known missense c.916 p.V306F 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 49 0 0.00 12 4 25.00 - - - THNSL1 0 genome.wustl.edu 37 10 25313195 25313195 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 25313195 25313195 G A SNP THNSL1 ENST00000376356 human ensembl 69_37n +1 known missense c.1043 p.G348E 1.000 pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase pfam_Shikimate_kinase,pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,prints_Shikimate_kinase,tigrfam_Thr_synthase - no_errors THNSL1 HGNC ENSG00000185875 55 0 0.00 25 4 13.79 - - - THRB 0 genome.wustl.edu 37 3 24231793 24231793 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 24231793 24231793 G T SNP THRB ENST00000356447 human ensembl 69_37n -1 known missense c.55 p.H19N 0.974 NULL 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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 42 0 0.00 32 4 11.11 - - - TLN2 0 genome.wustl.edu 37 15 63012031 63012031 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 15 63012031 63012031 C A SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known missense c.2943 p.D981E 0.983 NULL pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,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 TLN2 HGNC ENSG00000171914 66 0 0.00 34 4 10.26 - - - TM6SF2 0 genome.wustl.edu 37 19 19378520 19378520 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 19378520 19378520 C A SNP TM6SF2 ENST00000389363 human ensembl 69_37n -1 known silent c.714 p.V238 0.999 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 21 0 0.00 9 3 25.00 - - - TMEM150A 0 genome.wustl.edu 37 2 85827065 85827065 + Silent SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 85827065 85827065 G T SNP TMEM150A ENST00000334462 human ensembl 69_37n -1 known silent c.345 p.L115 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150A HGNC ENSG00000168890 72 0 0.00 38 5 11.63 - - - TMEM200C 0 genome.wustl.edu 37 18 5890355 5890355 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 18 5890355 5890355 C T SNP TMEM200C ENST00000383490 human ensembl 69_37n -1 known missense c.1708 p.A570T 0.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200C HGNC ENSG00000206432 73 0 0.00 36 4 10.00 - - - TNFRSF14 0 genome.wustl.edu 37 1 2489170 2489170 + Silent SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 2489170 2489170 G T SNP TNFRSF14 ENST00000355716 human ensembl 69_37n +1 known silent c.75 p.L25 0.003 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_14,prints_Fas_rcpt,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF14 HGNC ENSG00000157873 47 0 0.00 18 3 14.29 - - - TNRC6B 0 genome.wustl.edu 37 22 40711407 40711407 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 40711407 40711407 G A SNP TNRC6B ENST00000454349 human ensembl 69_37n +1 known missense c.4799 p.R1600H 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 50 0 0.00 8 3 27.27 - - - TOM1 0 genome.wustl.edu 37 22 35713945 35713945 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 22 35713945 35713945 C T SNP TOM1 ENST00000411850 human ensembl 69_37n +1 known missense c.128 p.T43M 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 32 0 0.00 9 10 52.63 - - - TOM1 0 genome.wustl.edu 37 22 35713945 35713945 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 35713945 35713945 C T SNP TOM1 ENST00000411850 human ensembl 69_37n +1 known missense c.128 p.T43M 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 66 0 0.00 9 17 65.38 - - - TP53TG1 0 genome.wustl.edu 37 7 86974645 86974645 + RNA SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 7 86974645 86974645 C A SNP TP53TG1 ENST00000359941 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TP53TG1 HGNC ENSG00000182165 66 0 0.00 44 5 10.20 - - - TPH2 0 genome.wustl.edu 37 12 72338138 72338138 + Missense_Mutation SNP A A G TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 12 72338138 72338138 A G SNP TPH2 ENST00000333850 human ensembl 69_37n +1 known missense c.320 p.E107G 1.000 pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 126 0 0.00 59 36 37.50 - - - TPH2 0 genome.wustl.edu 37 12 72338138 72338138 + Missense_Mutation SNP A A G TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 72338138 72338138 A G SNP TPH2 ENST00000333850 human ensembl 69_37n +1 known missense c.320 p.E107G 1.000 pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 51 0 0.00 30 11 26.83 - - - TPH2 0 genome.wustl.edu 37 12 72338138 72338138 + Missense_Mutation SNP A A G TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 12 72338138 72338138 A G SNP TPH2 ENST00000333850 human ensembl 69_37n +1 known missense c.320 p.E107G 1.000 pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 51 0 0.00 36 18 32.73 - - - TRAK1 0 genome.wustl.edu 37 3 42244336 42244336 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 42244336 42244336 C A SNP TRAK1 ENST00000449246 human ensembl 69_37n +1 putative missense c.1614 p.H538Q 0.001 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 29 0 0.00 11 3 20.00 - - - TRIM28 0 genome.wustl.edu 37 19 59058997 59058997 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 59058997 59058997 G T SNP TRIM28 ENST00000253024 human ensembl 69_37n +1 known missense c.756 p.Q252H 1.000 smart_Bbox_C pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 66 0 0.00 31 4 11.43 - - - TRIM6 0 genome.wustl.edu 37 11 5632160 5632160 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 5632160 5632160 C A SNP TRIM6 ENST00000380097 human ensembl 69_37n +1 known missense c.1139 p.S380Y 0.999 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6 HGNC ENSG00000121236 93 0 0.00 40 7 14.89 - - - TRIOBP 0 genome.wustl.edu 37 22 38121968 38121971 + Frame_Shift_Del DEL ATTC ATTC - TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 ATTC ATTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 22 38121968 38121971 ATTC - DEL TRIOBP ENST00000406386 human ensembl 69_37n +1 known frame_shift_del c.3405_3408 p.L1135fs 0.211:0.628:0.923:0.991 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 53 0 0.00 14 2 12.50 - - - TRMT44 0 genome.wustl.edu 37 4 8442601 8442601 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 4 8442601 8442601 C A SNP TRMT44 ENST00000389737 human ensembl 69_37n +1 known missense c.52 p.Q18K 0.000 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC ENSG00000155275 23 0 0.00 14 3 17.65 - - - TRPC6 0 genome.wustl.edu 37 11 101344388 101344388 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 11 101344388 101344388 C T SNP TRPC6 ENST00000344327 human ensembl 69_37n -1 known missense c.1861 p.G621R 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 40 0 0.00 35 4 10.26 - - - TTN 0 genome.wustl.edu 37 2 179445303 179445303 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 179445303 179445303 C A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.59099 p.R19700M 1.000 superfamily_Calpain_domain_III,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 42 0 0.00 25 3 10.71 - - - UBE3D 0 genome.wustl.edu 37 6 83732261 83732261 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 6 83732261 83732261 C T SNP UBE3D ENST00000369747 human ensembl 69_37n -1 known missense c.757 p.V253M 0.006 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 37 0 0.00 19 3 13.64 - - - UCKL1 0 genome.wustl.edu 37 20 62571731 62571731 + Silent SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 20 62571731 62571731 C A SNP UCKL1 ENST00000354216 human ensembl 69_37n -1 known silent c.1410 p.L470 1.000 NULL pfam_PRK/URK,pfam_CPT,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 37 0 0.00 14 4 22.22 - - - UMODL1 0 genome.wustl.edu 37 21 43496126 43496126 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 21 43496126 43496126 C T SNP UMODL1 ENST00000408989 human ensembl 69_37n +1 known missense c.89 p.S30F 0.999 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMODL1 HGNC ENSG00000177398 24 0 0.00 12 8 40.00 - - - UMODL1 0 genome.wustl.edu 37 21 43496126 43496126 + Missense_Mutation SNP C C T TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 21 43496126 43496126 C T SNP UMODL1 ENST00000408989 human ensembl 69_37n +1 known missense c.89 p.S30F 0.999 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMODL1 HGNC ENSG00000177398 75 0 0.00 44 29 39.73 - - - UMODL1 0 genome.wustl.edu 37 21 43496126 43496126 + Missense_Mutation SNP C C T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 21 43496126 43496126 C T SNP UMODL1 ENST00000408989 human ensembl 69_37n +1 known missense c.89 p.S30F 0.999 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMODL1 HGNC ENSG00000177398 75 0 0.00 13 8 38.10 - - - UPK1A-AS1 0 genome.wustl.edu 37 19 36159144 36159144 + RNA SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 36159144 36159144 G T SNP UPK1A-AS1 ENST00000443196 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors UPK1A-AS1 HGNC ENSG00000226510 28 0 0.00 13 3 18.75 - - - WAS 0 genome.wustl.edu 37 X 48547384 48547384 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 48547384 48547384 G A SNP WAS ENST00000376701 human ensembl 69_37n +1 known missense c.1267 p.G423R 0.102 NULL 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 46 0 0.00 33 4 10.81 - - - WDR35 0 genome.wustl.edu 37 2 20137600 20137600 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 2 20137600 20137600 C A SNP WDR35 ENST00000345530 human ensembl 69_37n -1 known missense c.2204 p.G735V 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 57 0 0.00 33 4 10.81 - - - WDR6 0 genome.wustl.edu 37 3 49052603 49052603 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 3 49052603 49052603 G T SNP WDR6 ENST00000395474 human ensembl 69_37n +1 known missense c.3338 p.S1113I 0.995 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 65 0 0.00 27 4 12.90 - - - WFDC3 0 genome.wustl.edu 37 20 44405748 44405748 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 20 44405748 44405748 G T SNP WFDC3 ENST00000337205 human ensembl 69_37n -1 putative missense c.440 p.A147D 1.000 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core 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_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WFDC3 HGNC ENSG00000124116 65 0 0.00 26 5 16.13 - - - WWC3 0 genome.wustl.edu 37 X 10107538 10107538 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed X 10107538 10107538 G T SNP WWC3 ENST00000380861 human ensembl 69_37n +1 known missense c.3170 p.R1057L 0.994 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC ENSG00000047644 108 0 0.00 36 4 10.00 - - - XPO7 0 genome.wustl.edu 37 8 21842314 21842314 + Missense_Mutation SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 8 21842314 21842314 G A SNP XPO7 ENST00000434536 human ensembl 69_37n +1 known missense c.1462 p.A488T 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 66 0 0.00 32 4 11.11 - - - ZNF343 0 genome.wustl.edu 37 20 2464568 2464568 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 20 2464568 2464568 G T SNP ZNF343 ENST00000278772 human ensembl 69_37n -1 known missense c.1039 p.H347N 0.977 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF343 HGNC ENSG00000088876 67 0 0.00 25 3 10.71 - - - ZNF451 0 genome.wustl.edu 37 6 57012855 57012855 + Nonsense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 6 57012855 57012855 G T SNP ZNF451 ENST00000370706 human ensembl 69_37n +1 known nonsense c.1972 p.E658* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 40 0 0.00 34 4 10.53 - - - ZNF473 0 genome.wustl.edu 37 19 50550060 50550060 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 19 50550060 50550060 G T SNP ZNF473 ENST00000270617 human ensembl 69_37n +1 known missense c.2360 p.R787I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF473 HGNC ENSG00000142528 31 0 0.00 13 3 18.75 - - - ZSCAN30 0 genome.wustl.edu 37 18 32844303 32844303 + Missense_Mutation SNP G G T TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 18 32844303 32844303 G T SNP ZSCAN30 ENST00000333206 human ensembl 69_37n -1 known missense c.14 p.A5D 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN30 HGNC ENSG00000186814 36 0 0.00 26 4 13.33 - - - ZWINT 0 genome.wustl.edu 37 10 58119522 58119522 + Missense_Mutation SNP C C A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 10 58119522 58119522 C A SNP ZWINT ENST00000373944 human ensembl 69_37n -1 known missense c.349 p.A117S 0.005 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 76 0 0.00 29 4 12.12 - - - ZYG11A 0 genome.wustl.edu 37 1 53326444 53326444 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73651880-cfbd-4f8d-8031-a14b3ac65454 a411cfe0-378e-4919-94e6-4c3beb8f61ca 1 53326444 53326444 G A SNP ZYG11A ENST00000371528 human ensembl 69_37n +1 known silent c.1050 p.L350 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 77 0 0.00 33 12 26.67 - - - ZYG11A 0 genome.wustl.edu 37 1 53326444 53326444 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a2bbb02b-3046-4633-9b5c-6ff4222a10d8 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 53326444 53326444 G A SNP ZYG11A ENST00000371528 human ensembl 69_37n +1 known silent c.1050 p.L350 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 81 0 0.00 37 5 11.90 - - - ZYG11A 0 genome.wustl.edu 37 1 53326444 53326444 + Silent SNP G G A TCGA-A7-A26E-01B-06D-A272-09 TCGA-A7-A26E-10A-01D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7d12cf9-bc24-4566-a54d-3a0bf7ae3bd0 d2ed0f51-2c5c-44b5-97a2-b3e83b1467ed 1 53326444 53326444 G A SNP ZYG11A ENST00000371528 human ensembl 69_37n +1 known silent c.1050 p.L350 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 81 0 0.00 43 18 29.51 - - -