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 ADCY3 0 genome.wustl.edu 37 2 25054542 25054543 + Frame_Shift_Ins INS - - TA TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 25054542 25054543 - TA INS ADCY3 ENST00000260600 human ensembl 69_37n -1 known frame_shift_ins c.2044_2043 p.I681fs 1.000:1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 11 0 0.00 4 2 33.33 - - - ADD2 0 genome.wustl.edu 37 2 70906010 70906010 + Silent SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 70906010 70906010 C T SNP ADD2 ENST00000264436 human ensembl 69_37n -1 known silent c.1209 p.T403 0.010 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 244 0 0.00 232 62 21.02 - - - AGT 0 genome.wustl.edu 37 1 230846340 230846340 + Missense_Mutation SNP T T A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 230846340 230846340 T A SNP AGT ENST00000366667 human ensembl 69_37n -1 known missense c.257 p.D86V 0.009 superfamily_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Angiotensngn - no_errors AGT HGNC ENSG00000135744 49 0 0.00 76 15 16.30 - - - ALDH9A1 0 genome.wustl.edu 37 1 165652328 165652328 + Missense_Mutation SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 165652328 165652328 G A SNP ALDH9A1 ENST00000354775 human ensembl 69_37n -1 known missense c.347 p.A116V 0.999 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 192 0 0.00 198 67 25.19 - - - ALPK2 0 genome.wustl.edu 37 18 56182234 56182234 + Missense_Mutation SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 18 56182234 56182234 T C SNP ALPK2 ENST00000361673 human ensembl 69_37n -1 known missense c.6020 p.E2007G 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase 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 ALPK2 HGNC ENSG00000198796 105 0 0.00 65 24 26.67 - - - ALS2CL 0 genome.wustl.edu 37 3 46716125 46716125 + Missense_Mutation SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 3 46716125 46716125 T C SNP ALS2CL ENST00000318962 human ensembl 69_37n -1 known missense c.2360 p.Y787C 1.000 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 58 0 0.00 74 17 18.48 - - - ANKRD36C 0 genome.wustl.edu 37 2 96521618 96521618 + Missense_Mutation SNP A A G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 96521618 96521618 A G SNP ANKRD36C ENST00000456556 human ensembl 69_37n -1 known missense c.4391 p.M1464T 0.461 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 119 0 0.00 126 28 18.18 - - - APLF 0 genome.wustl.edu 37 2 68740326 68740326 + Silent SNP A A T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 68740326 68740326 A T SNP APLF ENST00000303795 human ensembl 69_37n +1 known silent c.456 p.I152 0.002 NULL pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC ENSG00000169621 118 0 0.00 160 36 18.37 - - - ASB18 0 genome.wustl.edu 37 2 237150049 237150049 + Missense_Mutation SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 237150049 237150049 C T SNP ASB18 ENST00000330842 human ensembl 69_37n -1 known missense c.115 p.A39T 0.012 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB18 HGNC ENSG00000182177 62 0 0.00 22 14 38.89 - - - ASXL2 0 genome.wustl.edu 37 2 25967090 25967090 + Nonsense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 25967090 25967090 C A SNP ASXL2 ENST00000435504 human ensembl 69_37n -1 known nonsense c.2116 p.E706* 0.843 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 129 0 0.00 135 38 21.97 - - - B4GALT3 0 genome.wustl.edu 37 1 161144898 161144899 + Frame_Shift_Ins INS - - T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 161144898 161144899 - T INS B4GALT3 ENST00000319769 human ensembl 69_37n -1 known frame_shift_ins c.374_373 p.T125fs 1.000:0.995 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT3 HGNC ENSG00000158850 47 0 0.00 63 11 14.86 - - - BEST1 0 genome.wustl.edu 37 11 61729922 61729922 + Silent SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 11 61729922 61729922 C A SNP BEST1 ENST00000449131 human ensembl 69_37n +1 known silent c.1116 p.A372 0.002 NULL pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC ENSG00000167995 46 0 0.00 71 12 14.29 - - - C12orf71 0 genome.wustl.edu 37 12 27234161 27234161 + Missense_Mutation SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 12 27234161 27234161 G C SNP C12orf71 ENST00000429849 human ensembl 69_37n -1 known missense c.756 p.H252Q 0.008 NULL NULL - no_errors C12orf71 HGNC ENSG00000214700 335 1 0.30 348 79 18.46 - - - C15orf63 0 genome.wustl.edu 37 15 44093968 44093968 + Silent SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 15 44093968 44093968 C A SNP C15orf63 ENST00000406925 human ensembl 69_37n +1 known silent c.354 p.G118 1.000 NULL NULL - no_errors C15orf63 HGNC ENSG00000242028 110 0 0.00 192 52 21.31 - - - CARD6 0 genome.wustl.edu 37 5 40854020 40854020 + Silent SNP A A T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 5 40854020 40854020 A T SNP CARD6 ENST00000254691 human ensembl 69_37n +1 known silent c.2586 p.A862 0.000 NULL pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 667 0 0.00 961 316 24.73 - - - CCDC146 0 genome.wustl.edu 37 7 76866317 76866317 + Missense_Mutation SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 7 76866317 76866317 G C SNP CCDC146 ENST00000285871 human ensembl 69_37n +1 known missense c.210 p.K70N 1.000 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 178 0 0.00 208 26 11.06 - - - CDC20B 0 genome.wustl.edu 37 5 54442678 54442678 + Missense_Mutation SNP C C G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 5 54442678 54442678 C G SNP CDC20B ENST00000296733 human ensembl 69_37n -1 known missense c.133 p.D45H 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20B HGNC ENSG00000164287 45 0 0.00 39 94 70.15 - - - CDH20 0 genome.wustl.edu 37 18 59195238 59195238 + Missense_Mutation SNP G G T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 18 59195238 59195238 G T SNP CDH20 ENST00000262717 human ensembl 69_37n +1 known missense c.1056 p.K352N 1.000 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 CDH20 HGNC ENSG00000101542 289 0 0.00 192 68 26.05 - - - CEP152 0 genome.wustl.edu 37 15 49054845 49054845 + Missense_Mutation SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 15 49054845 49054845 G C SNP CEP152 ENST00000380950 human ensembl 69_37n -1 known missense c.2305 p.L769V 0.998 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 188 0 0.00 168 46 21.30 - - - CFH 0 genome.wustl.edu 37 1 196643085 196643085 + Missense_Mutation SNP A A T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 196643085 196643085 A T SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.343 p.N115Y 0.579 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 209 0 0.00 227 37 14.02 - - - CGNL1 0 genome.wustl.edu 37 15 57730935 57730935 + Frame_Shift_Del DEL A A - TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 15 57730935 57730935 A - DEL CGNL1 ENST00000281282 human ensembl 69_37n +1 known frame_shift_del c.738 p.E247fs 0.000 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 243 0 0.00 202 34 14.29 - - - CNTNAP3 0 genome.wustl.edu 37 9 39100104 39100104 + Silent SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 9 39100104 39100104 C T SNP CNTNAP3 ENST00000297668 human ensembl 69_37n -1 known silent c.2799 p.R933 0.246 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 90 0 0.00 93 22 19.13 - - - COG1 0 genome.wustl.edu 37 17 71201755 71201755 + Missense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 17 71201755 71201755 C A SNP COG1 ENST00000299886 human ensembl 69_37n +1 known missense c.2446 p.L816I 1.000 NULL pfam_Vps51 - no_errors COG1 HGNC ENSG00000166685 77 0 0.00 224 26 10.40 - - - CPS1 0 genome.wustl.edu 37 2 211525277 211525277 + Missense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 211525277 211525277 C A SNP CPS1 ENST00000430249 human ensembl 69_37n +1 known missense c.3843 p.F1281L 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 652 1 0.15 475 127 20.92 - - - DISC1 0 genome.wustl.edu 37 1 232144788 232144788 + Missense_Mutation SNP A A C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 232144788 232144788 A C SNP DISC1 ENST00000439617 human ensembl 69_37n +1 known missense c.2300 p.Q767P 0.654 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 167 0 0.00 195 88 31.10 - - - DNAJC14 0 genome.wustl.edu 37 12 56221251 56221251 + Missense_Mutation SNP A A G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 12 56221251 56221251 A G SNP DNAJC14 ENST00000317269 human ensembl 69_37n -1 known missense c.1192 p.W398R 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 167 0 0.00 368 58 13.58 - - - DRD2 0 genome.wustl.edu 37 11 113295308 113295308 + Missense_Mutation SNP G G T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 11 113295308 113295308 G T SNP DRD2 ENST00000355319 human ensembl 69_37n -1 known missense c.66 p.F22L 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_D2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 49 0 0.00 24 11 31.43 - - - ELN 0 genome.wustl.edu 37 7 73457331 73457331 + Missense_Mutation SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 7 73457331 73457331 G A SNP ELN ENST00000358929 human ensembl 69_37n +1 known missense c.343 p.V115I 0.000 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 18 0 0.00 38 9 19.15 - - - EMR3 0 genome.wustl.edu 37 19 14749046 14749046 + Missense_Mutation SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 19 14749046 14749046 G A SNP EMR3 ENST00000253673 human ensembl 69_37n -1 known missense c.1355 p.T452I 0.295 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 152 0 0.00 127 15 10.56 - - - ERCC6 0 genome.wustl.edu 37 10 50679156 50679156 + Missense_Mutation SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 10 50679156 50679156 T C SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known missense c.2935 p.K979E 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 566 0 0.00 378 106 21.90 - - - FAM114A2 0 genome.wustl.edu 37 5 153413878 153413878 + Missense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 5 153413878 153413878 C A SNP FAM114A2 ENST00000351797 human ensembl 69_37n -1 known missense c.270 p.K90N 1.000 pfam_DUF719 pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 194 0 0.00 162 34 17.35 - - - FBN1 0 genome.wustl.edu 37 15 48729188 48729188 + Missense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 15 48729188 48729188 C A SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.6466 p.G2156C 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 301 0 0.00 169 128 42.81 - - - FBXW4 0 genome.wustl.edu 37 10 103427732 103427732 + Nonsense_Mutation SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 10 103427732 103427732 C T SNP FBXW4 ENST00000331272 human ensembl 69_37n -1 known nonsense c.681 p.W227* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW4 HGNC ENSG00000107829 165 0 0.00 82 47 36.43 - - - FGD5 0 genome.wustl.edu 37 3 14861793 14861793 + Silent SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 3 14861793 14861793 C T SNP FGD5 ENST00000285046 human ensembl 69_37n +1 known silent c.1215 p.A405 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 18 0 0.00 36 20 35.71 - - - FLT3 0 genome.wustl.edu 37 13 28578204 28578204 + Missense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 13 28578204 28578204 C A SNP FLT3 ENST00000380982 human ensembl 69_37n -1 known missense c.2976 p.Q992H 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC ENSG00000122025 148 0 0.00 184 41 18.22 - - - FREM1 0 genome.wustl.edu 37 9 14769772 14769772 + Silent SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 9 14769772 14769772 G A SNP FREM1 ENST00000380881 human ensembl 69_37n -1 known silent c.5157 p.T1719 0.001 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 73 0 0.00 39 17 29.82 - - - FRG1B 0 genome.wustl.edu 37 20 29612263 29612263 + RNA SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 20 29612263 29612263 G A SNP FRG1B ENST00000482423 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FRG1B HGNC ENSG00000149531 12 0 0.00 1 4 80.00 - - - FZD6 0 genome.wustl.edu 37 8 104337129 104337129 + Missense_Mutation SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 8 104337129 104337129 G C SNP FZD6 ENST00000358755 human ensembl 69_37n +1 known missense c.795 p.E265D 0.991 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 212 0 0.00 378 50 11.68 - - - GABRQ 0 genome.wustl.edu 37 X 151815563 151815563 + Missense_Mutation SNP A A T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab X 151815563 151815563 A T SNP GABRQ ENST00000370306 human ensembl 69_37n +1 known missense c.461 p.H154L 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 124 0 0.00 92 26 22.03 - - - GRAP2 0 genome.wustl.edu 37 22 40366922 40366922 + Missense_Mutation SNP C C G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 22 40366922 40366922 C G SNP GRAP2 ENST00000344138 human ensembl 69_37n +1 known missense c.827 p.A276G 0.997 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 27 0 0.00 36 10 21.74 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32551998 32551998 + Silent SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 6 32551998 32551998 G A SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known silent c.258 p.D86 0.001 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 9 0 0.00 21 26 55.32 - - - HMCN1 0 genome.wustl.edu 37 1 185902893 185902893 + Missense_Mutation SNP T T A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 185902893 185902893 T A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.1765 p.Y589N 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 140 0 0.00 217 45 17.11 - - - HNRNPF 0 genome.wustl.edu 37 10 43882166 43882166 + Frame_Shift_Del DEL G G - TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 10 43882166 43882166 G - DEL HNRNPF ENST00000337970 human ensembl 69_37n -1 known frame_shift_del c.1167 p.Y389fs 0.995 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 24 0 0.00 38 11 22.00 - - - IGLV5-48 0 genome.wustl.edu 37 22 22707541 22707541 + Missense_Mutation SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 22 22707541 22707541 G C SNP IGLV5-48 ENST00000390293 human ensembl 69_37n +1 known missense c.129 p.L43F 0.792 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGLV5-48 HGNC ENSG00000211647 321 0 0.00 343 50 12.66 - - - INTS3 0 genome.wustl.edu 37 1 153735214 153735214 + Silent SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 153735214 153735214 G A SNP INTS3 ENST00000318967 human ensembl 69_37n +1 known silent c.1527 p.E509 0.997 NULL pfam_Integrator_3 - no_errors INTS3 HGNC ENSG00000143624 72 0 0.00 84 25 22.94 - - - IPO9 0 genome.wustl.edu 37 1 201822199 201822199 + Missense_Mutation SNP A A G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 201822199 201822199 A G SNP IPO9 ENST00000361565 human ensembl 69_37n +1 known missense c.664 p.I222V 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 201 1 0.50 368 47 11.30 - - - KIAA0947 0 genome.wustl.edu 37 5 5466609 5466611 + In_Frame_Del DEL AAA AAA - TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 5 5466609 5466611 AAA - DEL KIAA0947 ENST00000296564 human ensembl 69_37n +1 known in_frame_del c.6055_6057 p.K2019in_frame_del 0.993:0.998:0.997 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 80 0 0.00 85 32 26.67 - - - KIAA1432 0 genome.wustl.edu 37 9 5763843 5763843 + Missense_Mutation SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 9 5763843 5763843 C T SNP KIAA1432 ENST00000418622 human ensembl 69_37n +1 known missense c.2579 p.A860V 1.000 pfam_Ribosome_control_1 pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 475 0 0.00 360 81 18.33 - - - KLHL24 0 genome.wustl.edu 37 3 183382765 183382765 + Missense_Mutation SNP A A G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 3 183382765 183382765 A G SNP KLHL24 ENST00000242810 human ensembl 69_37n +1 known missense c.1162 p.I388V 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 226 0 0.00 186 50 21.10 - - - KLK3 0 genome.wustl.edu 37 19 51361847 51361847 + Missense_Mutation SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 19 51361847 51361847 G A SNP KLK3 ENST00000326003 human ensembl 69_37n +1 known missense c.626 p.C209Y 0.170 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK3 HGNC ENSG00000142515 112 0 0.00 89 30 25.21 - - - LAMA3 0 genome.wustl.edu 37 18 21364028 21364028 + Missense_Mutation SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 18 21364028 21364028 G A SNP LAMA3 ENST00000313654 human ensembl 69_37n +1 known missense c.1510 p.D504N 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 253 0 0.00 228 70 23.41 - - - LIN9 0 genome.wustl.edu 37 1 226474154 226474154 + Missense_Mutation SNP A A C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 226474154 226474154 A C SNP LIN9 ENST00000328205 human ensembl 69_37n -1 known missense c.452 p.L151R 0.999 pfam_DIRP pfam_DIRP - no_errors LIN9 HGNC ENSG00000183814 108 0 0.00 198 88 30.56 - - - LRFN2 0 genome.wustl.edu 37 6 40400435 40400435 + Missense_Mutation SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 6 40400435 40400435 C T SNP LRFN2 ENST00000338305 human ensembl 69_37n -1 known missense c.418 p.A140T 0.843 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN2 HGNC ENSG00000156564 41 0 0.00 36 14 28.00 - - - LRIT1 0 genome.wustl.edu 37 10 85992189 85992189 + Missense_Mutation SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 10 85992189 85992189 T C SNP LRIT1 ENST00000372105 human ensembl 69_37n -1 known missense c.1366 p.T456A 0.800 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRIT1 HGNC ENSG00000148602 32 0 0.00 18 7 28.00 - - - LY9 0 genome.wustl.edu 37 1 160769678 160769678 + Missense_Mutation SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 160769678 160769678 T C SNP LY9 ENST00000263285 human ensembl 69_37n +1 known missense c.260 p.L87P 0.001 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like - no_errors LY9 HGNC ENSG00000122224 99 0 0.00 108 21 16.15 - - - MAP2 0 genome.wustl.edu 37 2 210559236 210559236 + Missense_Mutation SNP A A T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 210559236 210559236 A T SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known missense c.2342 p.Q781L 0.968 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 332 0 0.00 236 48 16.78 - - - MORC1 0 genome.wustl.edu 37 3 108724000 108724000 + Missense_Mutation SNP A A C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 3 108724000 108724000 A C SNP MORC1 ENST00000232603 human ensembl 69_37n -1 known missense c.1930 p.S644A 0.004 NULL pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 392 0 0.00 228 120 34.38 - - - MTG1 0 genome.wustl.edu 37 10 135215097 135215097 + RNA SNP G G T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 10 135215097 135215097 G T SNP MTG1 ENST00000460848 human ensembl 69_37n +1 known rna NULL NULL 0.451 - - - no_errors MTG1 Clone_based_vega_gene ENSG00000148824 14 0 0.00 13 5 27.78 - - - NBEAL2 0 genome.wustl.edu 37 3 47041682 47041682 + Missense_Mutation SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 3 47041682 47041682 G C SNP NBEAL2 ENST00000450053 human ensembl 69_37n +1 known missense c.4093 p.V1365L 0.035 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 18 0 0.00 10 6 37.50 - - - NECAB1 0 genome.wustl.edu 37 8 91929817 91929817 + Missense_Mutation SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 8 91929817 91929817 G A SNP NECAB1 ENST00000417640 human ensembl 69_37n +1 known missense c.455 p.C152Y 1.000 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB1 HGNC ENSG00000123119 169 0 0.00 196 28 12.50 - - - NLRP10 0 genome.wustl.edu 37 11 7982712 7982712 + Silent SNP A A T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 11 7982712 7982712 A T SNP NLRP10 ENST00000328600 human ensembl 69_37n -1 known silent c.447 p.S149 0.032 NULL pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 117 0 0.00 51 22 30.14 - - - NRG3 0 genome.wustl.edu 37 10 84744963 84744963 + Missense_Mutation SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 10 84744963 84744963 G C SNP NRG3 ENST00000404547 human ensembl 69_37n +1 known missense c.1765 p.G589R 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 454 0 0.00 217 84 27.91 - - - NRXN2 0 genome.wustl.edu 37 11 64417968 64417968 + Missense_Mutation SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 11 64417968 64417968 G C SNP NRXN2 ENST00000265459 human ensembl 69_37n -1 known missense c.3061 p.R1021G 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 76 0 0.00 95 17 15.18 - - - NRXN3 0 genome.wustl.edu 37 14 79111656 79111656 + Missense_Mutation SNP G G T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 14 79111656 79111656 G T SNP NRXN3 ENST00000554738 human ensembl 69_37n +1 known missense c.945 p.L315F 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 101 0 0.00 83 22 20.95 - - - NYNRIN 0 genome.wustl.edu 37 14 24877941 24877941 + Missense_Mutation SNP A A T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 14 24877941 24877941 A T SNP NYNRIN ENST00000382554 human ensembl 69_37n +1 known missense c.941 p.N314I 0.002 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 19 0 0.00 39 10 19.61 - - - OCLN 0 genome.wustl.edu 37 5 68809915 68809916 + Frame_Shift_Ins INS - - C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 5 68809915 68809916 - C INS OCLN ENST00000355237 human ensembl 69_37n +1 known frame_shift_ins c.870_871 p.N292fs 0.952:0.963 pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 31 0 0.00 17 2 10.53 - - - OR10A2 0 genome.wustl.edu 37 11 6891464 6891464 + Missense_Mutation SNP A A C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 11 6891464 6891464 A C SNP OR10A2 ENST00000307322 human ensembl 69_37n +1 known missense c.479 p.K160T 0.023 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 OR10A2 HGNC ENSG00000170790 322 0 0.00 220 71 24.40 - - - OR12D3 0 genome.wustl.edu 37 6 29342676 29342676 + Missense_Mutation SNP T T A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 6 29342676 29342676 T A SNP OR12D3 ENST00000377143 human ensembl 69_37n -1 known missense c.389 p.Y130F 0.981 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR12D3 HGNC ENSG00000112462 225 0 0.00 196 96 32.65 - - - OR2G3 0 genome.wustl.edu 37 1 247768952 247768952 + Missense_Mutation SNP G G T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 247768952 247768952 G T SNP OR2G3 ENST00000320002 human ensembl 69_37n +1 known missense c.65 p.R22L 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 433 0 0.00 528 163 23.42 - - - OR2T10 0 genome.wustl.edu 37 1 248756770 248756770 + Silent SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 248756770 248756770 C T SNP OR2T10 ENST00000330500 human ensembl 69_37n -1 known silent c.300 p.Q100 0.294 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2T10 HGNC ENSG00000184022 155 0 0.00 298 40 11.83 - - - OR6C6 0 genome.wustl.edu 37 12 55688554 55688554 + Missense_Mutation SNP A A T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 12 55688554 55688554 A T SNP OR6C6 ENST00000358433 human ensembl 69_37n -1 known missense c.463 p.F155I 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C6 HGNC ENSG00000188324 293 0 0.00 268 62 18.56 - - - OVCH1 0 genome.wustl.edu 37 12 29629184 29629184 + Missense_Mutation SNP C C G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 12 29629184 29629184 C G SNP OVCH1 ENST00000318184 human ensembl 69_37n -1 known missense c.1426 p.D476H 0.203 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,prints_Peptidase_S1A,pfscan_CUB,pfscan_Peptidase_S1_S6 - no_errors OVCH1 HGNC ENSG00000187950 498 0 0.00 409 64 13.53 - - - PADI3 0 genome.wustl.edu 37 1 17606863 17606863 + Missense_Mutation SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 17606863 17606863 C T SNP PADI3 ENST00000375460 human ensembl 69_37n +1 known missense c.1574 p.T525I 0.825 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 85 0 0.00 56 13 18.57 - - - PCDHA11 0 genome.wustl.edu 37 5 140248908 140248908 + Missense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 5 140248908 140248908 C A SNP PCDHA11 ENST00000398640 human ensembl 69_37n +1 known missense c.220 p.L74I 0.993 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 47 0 0.00 28 16 36.36 - - - PCDHA8 0 genome.wustl.edu 37 5 140222344 140222344 + Nonsense_Mutation SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 5 140222344 140222344 C T SNP PCDHA8 ENST00000531613 human ensembl 69_37n +1 known nonsense c.1438 p.R480* 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 9 0 0.00 15 6 28.57 - - - PCDHB11 0 genome.wustl.edu 37 5 140580947 140580947 + Missense_Mutation SNP A A G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 5 140580947 140580947 A G SNP PCDHB11 ENST00000354757 human ensembl 69_37n +1 known missense c.1600 p.T534A 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 43 0 0.00 40 14 25.93 - - - PCDHGA12 0 genome.wustl.edu 37 5 140812092 140812092 + Missense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 5 140812092 140812092 C A SNP PCDHGA12 ENST00000252085 human ensembl 69_37n +1 known missense c.1766 p.T589N 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 59 0 0.00 66 18 21.43 - - - PNPO 0 genome.wustl.edu 37 17 46022006 46022006 + Missense_Mutation SNP G G T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 17 46022006 46022006 G T SNP PNPO ENST00000225573 human ensembl 69_37n +1 known missense c.288 p.M96I 1.000 pfam_Pyridox_Oxase_FMN-bd,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase - no_errors PNPO HGNC ENSG00000108439 141 0 0.00 333 77 18.73 - - - PPM1D 0 genome.wustl.edu 37 17 58734121 58734121 + Silent SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 17 58734121 58734121 G C SNP PPM1D ENST00000305921 human ensembl 69_37n +1 known silent c.1179 p.L393 0.990 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1D HGNC ENSG00000170836 173 0 0.00 362 62 14.62 - - - PTPRE 0 genome.wustl.edu 37 10 129871639 129871639 + Silent SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 10 129871639 129871639 G A SNP PTPRE ENST00000254667 human ensembl 69_37n +1 known silent c.1503 p.G501 0.774 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 66 0 0.00 61 22 26.51 - - - PXMP4 0 genome.wustl.edu 37 20 32302531 32302531 + Missense_Mutation SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 20 32302531 32302531 T C SNP PXMP4 ENST00000409299 human ensembl 69_37n -1 known missense c.125 p.K42R 1.000 pirsf_Pmp4 pirsf_Pmp4 - no_errors PXMP4 HGNC ENSG00000101417 69 0 0.00 254 46 15.28 - - - REL 0 genome.wustl.edu 37 2 61145426 61145426 + Silent SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 61145426 61145426 G A SNP REL ENST00000295025 human ensembl 69_37n +1 known silent c.636 p.Q212 1.000 superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC ENSG00000162924 198 0 0.00 239 55 18.71 - - - RGL2 0 genome.wustl.edu 37 6 33263964 33263965 + Frame_Shift_Ins INS - - C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 6 33263964 33263965 - C INS RGL2 ENST00000497454 human ensembl 69_37n -1 known frame_shift_ins c.609_608 p.S204fs 1.000:1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 19 0 0.00 63 10 13.70 - - - RGPD2 0 genome.wustl.edu 37 2 88082418 88082418 + Missense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 88082418 88082418 C A SNP RGPD2 ENST00000398146 human ensembl 69_37n -1 known missense c.4125 p.K1375N 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD2 HGNC ENSG00000185304 655 0 0.00 486 107 18.04 - - - RYR1 0 genome.wustl.edu 37 19 38964046 38964047 + Frame_Shift_Ins INS - - C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 19 38964046 38964047 - C INS RYR1 ENST00000359596 human ensembl 69_37n +1 known frame_shift_ins c.3795_3796 p.C1267fs 0.968:1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 36 0 0.00 25 3 10.71 - - - SAMD7 0 genome.wustl.edu 37 3 169644854 169644854 + Silent SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 3 169644854 169644854 T C SNP SAMD7 ENST00000335556 human ensembl 69_37n +1 known silent c.804 p.T268 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD7 HGNC ENSG00000187033 201 0 0.00 176 107 37.81 - - - SAMD8 0 genome.wustl.edu 37 10 76928307 76928307 + Missense_Mutation SNP T T G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 10 76928307 76928307 T G SNP SAMD8 ENST00000372690 human ensembl 69_37n +1 known missense c.872 p.L291R 1.000 NULL pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC ENSG00000156671 333 0 0.00 297 77 20.53 - - - SAMD9L 0 genome.wustl.edu 37 7 92763853 92763853 + Missense_Mutation SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 7 92763853 92763853 T C SNP SAMD9L ENST00000318238 human ensembl 69_37n -1 known missense c.1432 p.T478A 0.000 NULL superfamily_SAM/pointed,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 688 1 0.15 372 106 22.13 - - - SCN10A 0 genome.wustl.edu 37 3 38753808 38753808 + Silent SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 3 38753808 38753808 G A SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known silent c.3933 p.I1311 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 192 0 0.00 150 88 36.82 - - - SERPINE1 0 genome.wustl.edu 37 7 100773837 100773837 + Missense_Mutation SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 7 100773837 100773837 T C SNP SERPINE1 ENST00000223095 human ensembl 69_37n +1 known missense c.407 p.F136S 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINE1 HGNC ENSG00000106366 324 0 0.00 288 84 22.46 - - - SHROOM2 0 genome.wustl.edu 37 X 9905450 9905451 + Frame_Shift_Ins INS - - C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab X 9905450 9905451 - C INS SHROOM2 ENST00000380913 human ensembl 69_37n +1 known frame_shift_ins c.3864_3865 p.E1290fs 0.000:0.001 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 8 0 0.00 5 3 37.50 - - - SIGLEC11 0 genome.wustl.edu 37 19 50463606 50463606 + Missense_Mutation SNP A A C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 19 50463606 50463606 A C SNP SIGLEC11 ENST00000447370 human ensembl 69_37n -1 known missense c.533 p.V178G 0.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC11 HGNC ENSG00000161640 39 0 0.00 37 14 27.45 - - - SLAMF7 0 genome.wustl.edu 37 1 160722907 160722907 + Missense_Mutation SNP C C G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 160722907 160722907 C G SNP SLAMF7 ENST00000359331 human ensembl 69_37n +1 known missense c.844 p.P282A 0.000 NULL pfam_Ig_V-set,pfscan_Ig-like - no_errors SLAMF7 HGNC ENSG00000026751 107 0 0.00 113 13 10.32 - - - SNHG14 0 genome.wustl.edu 37 15 25327738 25327738 + RNA SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 15 25327738 25327738 G C SNP SNHG14 ENST00000383025 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors SNHG14 HGNC ENSG00000224078 59 0 0.00 50 20 28.57 - - - SNORD19B 0 genome.wustl.edu 37 3 52724803 52724803 + RNA SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 3 52724803 52724803 G C SNP SNORD19B ENST00000459623 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SNORD19B HGNC ENSG00000238862 59 0 0.00 77 24 23.76 - - - SNX29 0 genome.wustl.edu 37 16 12172727 12172727 + Missense_Mutation SNP A A C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 16 12172727 12172727 A C SNP SNX29 ENST00000306030 human ensembl 69_37n +1 known missense c.202 p.S68R 0.998 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 27 0 0.00 26 9 25.71 - - - SORT1 0 genome.wustl.edu 37 1 109878931 109878931 + Silent SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 109878931 109878931 T C SNP SORT1 ENST00000256637 human ensembl 69_37n -1 known silent c.1302 p.G434 1.000 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 231 1 0.43 178 40 18.35 - - - SPTA1 0 genome.wustl.edu 37 1 158624423 158624423 + Missense_Mutation SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 158624423 158624423 G A SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.3014 p.T1005M 0.995 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 111 0 0.00 167 27 13.92 - - - SV2B 0 genome.wustl.edu 37 15 91809865 91809865 + Missense_Mutation SNP T T A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 15 91809865 91809865 T A SNP SV2B ENST00000330276 human ensembl 69_37n +1 known missense c.1062 p.S354R 0.892 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2B HGNC ENSG00000185518 118 0 0.00 124 44 26.19 - - - TG 0 genome.wustl.edu 37 8 133919044 133919044 + Missense_Mutation SNP G G T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 8 133919044 133919044 G T SNP TG ENST00000220616 human ensembl 69_37n +1 known missense c.3746 p.C1249F 0.255 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 38 0 0.00 72 11 12.94 - - - THAP1 0 genome.wustl.edu 37 8 42693459 42693459 + Missense_Mutation SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 8 42693459 42693459 T C SNP THAP1 ENST00000345117 human ensembl 69_37n -1 known missense c.92 p.H31R 0.005 NULL NULL - no_errors THAP1 HGNC ENSG00000131931 70 0 0.00 90 18 16.67 - - - TMEM132A 0 genome.wustl.edu 37 11 60697989 60697989 + Missense_Mutation SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 11 60697989 60697989 G A SNP TMEM132A ENST00000005286 human ensembl 69_37n +1 known missense c.874 p.V292M 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 59 0 0.00 31 14 31.11 - - - TPM1 0 genome.wustl.edu 37 15 63351850 63351850 + Missense_Mutation SNP G G C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 15 63351850 63351850 G C SNP TPM1 ENST00000267996 human ensembl 69_37n +1 known missense c.463 p.A155P 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM1 HGNC ENSG00000140416 100 0 0.00 100 79 44.13 - - - TRIM46 0 genome.wustl.edu 37 1 155150988 155150988 + Frame_Shift_Del DEL C C - TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 155150988 155150988 C - DEL TRIM46 ENST00000334634 human ensembl 69_37n +1 known frame_shift_del c.1184 p.L396fs 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 28 0 0.00 61 18 21.95 - - - TRIM58 0 genome.wustl.edu 37 1 248039569 248039569 + Missense_Mutation SNP T T G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 248039569 248039569 T G SNP TRIM58 ENST00000366481 human ensembl 69_37n +1 known missense c.1239 p.I413M 0.611 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 TRIM58 HGNC ENSG00000162722 841 0 0.00 1741 275 13.58 - - - TTN 0 genome.wustl.edu 37 2 179396767 179396767 + Missense_Mutation SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 2 179396767 179396767 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.96871 p.R32291W 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 163 0 0.00 134 34 20.00 - - - TXNRD3NB 0 genome.wustl.edu 37 3 126291351 126291351 + Silent SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 3 126291351 126291351 C A SNP TXNRD3NB ENST00000383572 human ensembl 69_37n -1 known silent c.36 p.P12 0.176 NULL NULL - no_errors TXNRD3NB HGNC ENSG00000206483 35 0 0.00 37 11 22.92 - - - USH2A 0 genome.wustl.edu 37 1 215848460 215848460 + Missense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 215848460 215848460 C A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.12793 p.G4265C 0.945 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 341 0 0.00 478 63 11.60 - - - USO1 0 genome.wustl.edu 37 4 76731634 76731634 + Missense_Mutation SNP A A G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 4 76731634 76731634 A G SNP USO1 ENST00000538159 human ensembl 69_37n +1 known missense c.2552 p.K851R 0.002 pfam_Uso1_p115_C,superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 69 0 0.00 41 14 25.45 - - - VCAM1 0 genome.wustl.edu 37 1 101200206 101200206 + Missense_Mutation SNP A A T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 1 101200206 101200206 A T SNP VCAM1 ENST00000294728 human ensembl 69_37n +1 known missense c.1941 p.K647N 0.033 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 271 0 0.00 188 67 26.07 - - - VWF 0 genome.wustl.edu 37 12 6125930 6125930 + Missense_Mutation SNP T T A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 12 6125930 6125930 T A SNP VWF ENST00000261405 human ensembl 69_37n -1 known missense c.5160 p.K1720N 0.061 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 225 0 0.00 127 55 30.22 - - - ZMYND19 0 genome.wustl.edu 37 9 140477613 140477613 + Missense_Mutation SNP T T C TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 9 140477613 140477613 T C SNP ZMYND19 ENST00000298585 human ensembl 69_37n -1 known missense c.362 p.E121G 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 25 0 0.00 13 9 40.91 - - - ZNF280D 0 genome.wustl.edu 37 15 56959161 56959161 + Silent SNP T T A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 15 56959161 56959161 T A SNP ZNF280D ENST00000267807 human ensembl 69_37n -1 known silent c.1569 p.G523 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 145 0 0.00 105 30 22.22 - - - ZNF454 0 genome.wustl.edu 37 5 178392207 178392207 + Missense_Mutation SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 5 178392207 178392207 G A SNP ZNF454 ENST00000320129 human ensembl 69_37n +1 known missense c.802 p.G268R 1.000 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 ZNF454 HGNC ENSG00000178187 199 0 0.00 388 57 12.78 - - - ZNF470 0 genome.wustl.edu 37 19 57089279 57089279 + Silent SNP G G A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 19 57089279 57089279 G A SNP ZNF470 ENST00000330619 human ensembl 69_37n +1 known silent c.1482 p.T494 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 ZNF470 HGNC ENSG00000197016 82 0 0.00 189 35 15.56 - - - ZNF534 0 genome.wustl.edu 37 19 52942384 52942384 + Missense_Mutation SNP G G T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 19 52942384 52942384 G T SNP ZNF534 ENST00000332323 human ensembl 69_37n +1 known missense c.1710 p.K570N 0.248 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 ZNF534 HGNC ENSG00000198633 64 0 0.00 109 19 14.84 - - - ZSCAN10 0 genome.wustl.edu 37 16 3142213 3142213 + Missense_Mutation SNP C C A TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4975eeda-984e-4a7a-8193-43d8b6e0271c f3828bb5-e811-4992-ba01-0fe463d82cab 16 3142213 3142213 C A SNP ZSCAN10 ENST00000252463 human ensembl 69_37n -1 known missense c.336 p.L112F 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 17 0 0.00 22 13 37.14 - - -