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 ADAM19 0 genome.wustl.edu 37 5 156907994 156907994 + Nonsense_Mutation SNP G G C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 5 156907994 156907994 G C SNP ADAM19 ENST00000394020 human ensembl 69_37n -1 known nonsense c.2726 p.S909* 0.022 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 101 0 0.00 67 12 15.19 - - - ADAMTS20 0 genome.wustl.edu 37 12 43826141 43826141 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 12 43826141 43826141 G A SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.3062 p.S1021F 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC ENSG00000173157 183 0 0.00 126 17 11.89 - - - AIM1 0 genome.wustl.edu 37 6 106967193 106967193 + Missense_Mutation SNP A A G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 6 106967193 106967193 A G SNP AIM1 ENST00000369066 human ensembl 69_37n +1 known missense c.886 p.T296A 0.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 94 0 0.00 106 16 12.80 - - - AKNA 0 genome.wustl.edu 37 9 117120303 117120303 + Silent SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 9 117120303 117120303 G A SNP AKNA ENST00000307564 human ensembl 69_37n -1 known silent c.2637 p.S879 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 47 0 0.00 43 8 15.69 - - - ALG8 0 genome.wustl.edu 37 11 77820538 77820538 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 11 77820538 77820538 G A SNP ALG8 ENST00000299626 human ensembl 69_37n -1 known missense c.988 p.P330S 0.999 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC ENSG00000159063 127 0 0.00 150 23 13.29 - - - ANGEL2 0 genome.wustl.edu 37 1 213180387 213180387 + RNA SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 213180387 213180387 G A SNP ANGEL2 ENST00000460337 human ensembl 69_37n -1 known rna NULL NULL 0.018 - - - no_errors ANGEL2 HGNC ENSG00000174606 61 0 0.00 71 10 12.35 - - - ANKRD17 0 genome.wustl.edu 37 4 74043217 74043217 + Nonsense_Mutation SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 4 74043217 74043217 C T SNP ANKRD17 ENST00000558247 human ensembl 69_37n -1 known nonsense c.81 p.W27* 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANKRD17 HGNC ENSG00000132466 333 0 0.00 247 38 13.33 - - - ARHGAP29 0 genome.wustl.edu 37 1 94643587 94643587 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 94643587 94643587 G A SNP ARHGAP29 ENST00000260526 human ensembl 69_37n -1 known missense c.2617 p.R873C 0.066 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 202 0 0.00 182 23 11.22 - - - ATP5A1 0 genome.wustl.edu 37 18 43667040 43667040 + Silent SNP T T G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 18 43667040 43667040 T G SNP ATP5A1 ENST00000282050 human ensembl 69_37n -1 known silent c.1110 p.I370 0.959 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_F1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_F1-cplx_asu - no_errors ATP5A1 HGNC ENSG00000152234 163 0 0.00 86 35 28.93 - - - ATP6V0B 0 genome.wustl.edu 37 1 44442306 44442306 + Missense_Mutation SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 44442306 44442306 C A SNP ATP6V0B ENST00000472174 human ensembl 69_37n +1 known missense c.323 p.A108E 1.000 pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_V0-cplx_csu - no_errors ATP6V0B HGNC ENSG00000117410 110 0 0.00 41 8 16.33 - - - B3GALT4 0 genome.wustl.edu 37 6 33245209 33245209 + Missense_Mutation SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 6 33245209 33245209 C A SNP B3GALT4 ENST00000451237 human ensembl 69_37n +1 known missense c.13 p.L5I 0.131 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 53 0 0.00 27 4 12.90 - - - BCOR 0 genome.wustl.edu 37 X 39932241 39932241 + Silent SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 X 39932241 39932241 C T SNP BCOR ENST00000378444 human ensembl 69_37n -1 known silent c.2358 p.K786 0.703 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 94 0 0.00 117 14 10.69 - - - CATSPERG 0 genome.wustl.edu 37 19 38853402 38853402 + Missense_Mutation SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 19 38853402 38853402 C T SNP CATSPERG ENST00000409235 human ensembl 69_37n +1 known missense c.2405 p.A802V 0.319 NULL NULL - no_errors CATSPERG HGNC ENSG00000099338 85 0 0.00 102 14 11.97 - - - CCDC112 0 genome.wustl.edu 37 5 114611095 114611095 + Nonsense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 5 114611095 114611095 G A SNP CCDC112 ENST00000379611 human ensembl 69_37n -1 known nonsense c.736 p.R246* 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 285 0 0.00 172 51 22.87 - - - CCDC66 0 genome.wustl.edu 37 3 56653531 56653531 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 3 56653531 56653531 G A SNP CCDC66 ENST00000394672 human ensembl 69_37n +1 known missense c.2611 p.D871N 0.517 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 369 1 0.27 194 32 14.10 - - - CCNE1 0 genome.wustl.edu 37 19 30313457 30313457 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 19 30313457 30313457 G A SNP CCNE1 ENST00000262643 human ensembl 69_37n +1 known missense c.1057 p.A353T 0.225 pfam_Cyclin_C,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 123 0 0.00 119 53 30.64 - - - CCR7 0 genome.wustl.edu 37 17 38711716 38711716 + Missense_Mutation SNP T T A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 17 38711716 38711716 T A SNP CCR7 ENST00000246657 human ensembl 69_37n -1 known missense c.415 p.S139C 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_CCR7,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11,pfscan_GPCR_Rhodpsn_supfam - no_errors CCR7 HGNC ENSG00000126353 102 0 0.00 93 20 17.70 - - - CDC14A 0 genome.wustl.edu 37 1 100921011 100921011 + Silent SNP A A G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 100921011 100921011 A G SNP CDC14A ENST00000361544 human ensembl 69_37n +1 known silent c.570 p.A190 0.997 NULL 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 - no_errors CDC14A HGNC ENSG00000079335 243 0 0.00 116 26 18.31 - - - CDCA7L 0 genome.wustl.edu 37 7 21947807 21947807 + Missense_Mutation SNP G G T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 7 21947807 21947807 G T SNP CDCA7L ENST00000406877 human ensembl 69_37n -1 known missense c.622 p.Q208K 0.900 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 77 0 0.00 52 11 17.46 - - - CDKAL1 0 genome.wustl.edu 37 6 21201369 21201369 + Missense_Mutation SNP T T G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 6 21201369 21201369 T G SNP CDKAL1 ENST00000274695 human ensembl 69_37n +1 known missense c.1412 p.M471R 1.000 pfam_TRAM_dom,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 297 1 0.33 275 62 18.40 - - - CERS2 0 genome.wustl.edu 37 1 150941434 150941434 + Silent SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 150941434 150941434 G A SNP CERS2 ENST00000271688 human ensembl 69_37n -1 known silent c.133 p.L45 1.000 pirsf_Longevity_assurance_LAG1_LAC1 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS2 HGNC ENSG00000143418 73 0 0.00 97 18 15.65 - - - CHD9 0 genome.wustl.edu 37 16 53279531 53279531 + Missense_Mutation SNP A A C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 16 53279531 53279531 A C SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known missense c.3223 p.K1075Q 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CHD9 HGNC ENSG00000177200 174 0 0.00 156 46 22.77 - - - CHIA 0 genome.wustl.edu 37 1 111854943 111854943 + Missense_Mutation SNP A A G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 111854943 111854943 A G SNP CHIA ENST00000343320 human ensembl 69_37n +1 known missense c.187 p.N63D 0.009 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 252 0 0.00 173 25 12.63 - - - CLASP2 0 genome.wustl.edu 37 3 33668523 33668523 + Missense_Mutation SNP A A G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 3 33668523 33668523 A G SNP CLASP2 ENST00000399362 human ensembl 69_37n -1 known missense c.992 p.I331T 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 49 0 0.00 30 5 14.29 - - - CNTLN 0 genome.wustl.edu 37 9 17235769 17235769 + Missense_Mutation SNP A A T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 9 17235769 17235769 A T SNP CNTLN ENST00000380647 human ensembl 69_37n +1 known missense c.648 p.K216N 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 482 0 0.00 273 64 18.99 - - - CNTN4 0 genome.wustl.edu 37 3 3080650 3080650 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 3 3080650 3080650 G A SNP CNTN4 ENST00000397461 human ensembl 69_37n +1 known missense c.2126 p.G709D 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC ENSG00000144619 81 0 0.00 47 19 28.79 - - - COG3 0 genome.wustl.edu 37 13 46065675 46065675 + Splice_Site SNP T T C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 13 46065675 46065675 T C SNP COG3 ENST00000349995 human ensembl 69_37n +1 known splice_site c.1095+2 e10+2 1.000 - - - no_errors COG3 HGNC ENSG00000136152 208 0 0.00 126 17 11.89 - - - CPA1 0 genome.wustl.edu 37 7 130025723 130025723 + Missense_Mutation SNP A A G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 7 130025723 130025723 A G SNP CPA1 ENST00000011292 human ensembl 69_37n +1 known missense c.1031 p.Y344C 0.999 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 19 0 0.00 22 7 24.14 - - - DAPK1 0 genome.wustl.edu 37 9 90220079 90220079 + Silent SNP G G T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 9 90220079 90220079 G T SNP DAPK1 ENST00000469640 human ensembl 69_37n +1 known silent c.273 p.L91 0.859 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,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_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 72 0 0.00 72 14 16.28 - - - DEFB115 0 genome.wustl.edu 37 20 29847380 29847380 + Missense_Mutation SNP A A T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 20 29847380 29847380 A T SNP DEFB115 ENST00000400552 human ensembl 69_37n +1 known missense c.212 p.K71M 0.015 NULL NULL - no_errors DEFB115 HGNC ENSG00000215547 188 0 0.00 277 50 15.29 - - - ELOVL6 0 genome.wustl.edu 37 4 110980805 110980805 + Missense_Mutation SNP G G C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 4 110980805 110980805 G C SNP ELOVL6 ENST00000394607 human ensembl 69_37n -1 known missense c.327 p.S109R 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL6 HGNC ENSG00000170522 168 1 0.59 178 20 10.10 - - - EPB41L1 0 genome.wustl.edu 37 20 34775661 34775661 + Nonsense_Mutation SNP C C G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 20 34775661 34775661 C G SNP EPB41L1 ENST00000338074 human ensembl 69_37n +1 known nonsense c.849 p.Y283* 0.174 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam 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 81 0 0.00 85 25 22.73 - - - EXT1 0 genome.wustl.edu 37 8 118842508 118842508 + Nonsense_Mutation SNP A A C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 8 118842508 118842508 A C SNP EXT1 ENST00000378204 human ensembl 69_37n -1 known nonsense c.1245 p.Y415* 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 125 0 0.00 86 84 49.12 - - - GLUL 0 genome.wustl.edu 37 1 182354560 182354560 + Silent SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 182354560 182354560 C T SNP GLUL ENST00000311223 human ensembl 69_37n -1 known silent c.735 p.G245 0.004 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 96 0 0.00 126 18 12.50 - - - GRIK2 0 genome.wustl.edu 37 6 102124623 102124623 + Missense_Mutation SNP G G C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 6 102124623 102124623 G C SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known missense c.667 p.E223Q 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 152 0 0.00 79 14 15.05 - - - GTF2IRD2P1 0 genome.wustl.edu 37 7 72658101 72658101 + RNA SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 7 72658101 72658101 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 69_37n -1 known rna NULL NULL 0.993 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 91 0 0.00 99 29 22.48 - - - HEG1 0 genome.wustl.edu 37 3 124748125 124748125 + Missense_Mutation SNP G G C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 3 124748125 124748125 G C SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known missense c.524 p.S175C 0.180 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 74 0 0.00 54 9 14.29 - - - HIPK2 0 genome.wustl.edu 37 7 139305147 139305147 + Silent SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 7 139305147 139305147 C T SNP HIPK2 ENST00000406875 human ensembl 69_37n -1 known silent c.1782 p.Q594 1.000 NULL 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 HIPK2 HGNC ENSG00000064393 328 0 0.00 215 31 12.60 - - - HIPK2 0 genome.wustl.edu 37 7 139416107 139416107 + Nonsense_Mutation SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 7 139416107 139416107 C A SNP HIPK2 ENST00000406875 human ensembl 69_37n -1 known nonsense c.727 p.E243* 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 - no_errors HIPK2 HGNC ENSG00000064393 183 0 0.00 203 23 10.18 - - - HNF4A 0 genome.wustl.edu 37 20 43042402 43042402 + Missense_Mutation SNP A A T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 20 43042402 43042402 A T SNP HNF4A ENST00000316099 human ensembl 69_37n +1 known missense c.454 p.I152F 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 35 0 0.00 39 7 15.22 - - - HUWE1 0 genome.wustl.edu 37 X 53644083 53644083 + Missense_Mutation SNP C C G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 X 53644083 53644083 C G SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.1805 p.G602A 1.000 pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 124 0 0.00 101 14 12.17 - - - IFNA10 0 genome.wustl.edu 37 9 21206600 21206600 + Missense_Mutation SNP A A C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 9 21206600 21206600 A C SNP IFNA10 ENST00000357374 human ensembl 69_37n -1 known missense c.497 p.V166G 0.013 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA10 HGNC ENSG00000186803 637 6 0.93 454 75 14.15 - - - IFT46 0 genome.wustl.edu 37 11 118416559 118416559 + Missense_Mutation SNP G G T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 11 118416559 118416559 G T SNP IFT46 ENST00000264020 human ensembl 69_37n -1 known missense c.835 p.P279T 1.000 pfam_Intraflagellar_transp_cmplxB pfam_Intraflagellar_transp_cmplxB - no_errors IFT46 HGNC ENSG00000118096 81 0 0.00 78 33 29.73 - - - IFT52 0 genome.wustl.edu 37 20 42275617 42275617 + Silent SNP T T C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 20 42275617 42275617 T C SNP IFT52 ENST00000373030 human ensembl 69_37n +1 known silent c.1308 p.N436 0.855 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 128 0 0.00 184 74 28.68 - - - INPP5J 0 genome.wustl.edu 37 22 31522391 31522391 + Missense_Mutation SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 22 31522391 31522391 C A SNP INPP5J ENST00000331075 human ensembl 69_37n +1 known missense c.1301 p.T434N 0.994 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 44 0 0.00 38 5 11.36 - - - IQCD 0 genome.wustl.edu 37 12 113633529 113633529 + Missense_Mutation SNP C C G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 12 113633529 113633529 C G SNP IQCD ENST00000416617 human ensembl 69_37n -1 known missense c.1201 p.V401L 0.985 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 69 0 0.00 66 17 20.48 - - - IRAK2 0 genome.wustl.edu 37 3 10255044 10255044 + Missense_Mutation SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 3 10255044 10255044 C T SNP IRAK2 ENST00000256458 human ensembl 69_37n +1 known missense c.682 p.H228Y 0.086 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_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK2 HGNC ENSG00000134070 54 0 0.00 79 10 11.24 - - - JAK2 0 genome.wustl.edu 37 9 5022119 5022119 + Nonsense_Mutation SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 9 5022119 5022119 C A SNP JAK2 ENST00000381652 human ensembl 69_37n +1 known nonsense c.132 p.Y44* 0.996 smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,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,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 548 0 0.00 289 150 34.17 - - - KCNQ5 0 genome.wustl.edu 37 6 73900398 73900398 + Missense_Mutation SNP G G T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 6 73900398 73900398 G T SNP KCNQ5 ENST00000402622 human ensembl 69_37n +1 known missense c.1710 p.M570I 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 125 0 0.00 99 23 18.85 - - - KIF20B 0 genome.wustl.edu 37 10 91497158 91497158 + Missense_Mutation SNP A A T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 10 91497158 91497158 A T SNP KIF20B ENST00000416354 human ensembl 69_37n +1 known missense c.2650 p.S884C 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 229 0 0.00 141 16 10.19 - - - KIT 0 genome.wustl.edu 37 4 55589813 55589813 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 4 55589813 55589813 G A SNP KIT ENST00000288135 human ensembl 69_37n +1 known missense c.1295 p.G432E 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors KIT HGNC ENSG00000157404 94 0 0.00 34 14 29.17 - - - KRT3 0 genome.wustl.edu 37 12 53184633 53184633 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 12 53184633 53184633 G A SNP KRT3 ENST00000309505 human ensembl 69_37n -1 known missense c.1562 p.A521V 0.999 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 31 0 0.00 40 6 13.04 - - - LGR5 0 genome.wustl.edu 37 12 71978313 71978313 + Missense_Mutation SNP G G T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 12 71978313 71978313 G T SNP LGR5 ENST00000266674 human ensembl 69_37n +1 known missense c.2523 p.W841C 1.000 NULL 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 LGR5 HGNC ENSG00000139292 252 0 0.00 263 45 14.61 - - - LMX1A 0 genome.wustl.edu 37 1 165173228 165173228 + Missense_Mutation SNP A A T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 165173228 165173228 A T SNP LMX1A ENST00000294816 human ensembl 69_37n -1 known missense c.1038 p.S346R 1.000 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LMX1A HGNC ENSG00000162761 88 0 0.00 54 12 17.91 - - - LOXL4 0 genome.wustl.edu 37 10 100015449 100015449 + Missense_Mutation SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 10 100015449 100015449 C A SNP LOXL4 ENST00000260702 human ensembl 69_37n -1 known missense c.1476 p.M492I 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL4 HGNC ENSG00000138131 40 0 0.00 28 7 20.00 - - - LZTS1 0 genome.wustl.edu 37 8 20112577 20112577 + Missense_Mutation SNP T T C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 8 20112577 20112577 T C SNP LZTS1 ENST00000265801 human ensembl 69_37n -1 known missense c.116 p.D39G 0.999 NULL pfam_Fez1 - no_errors LZTS1 HGNC ENSG00000061337 60 0 0.00 22 8 26.67 - - - MACF1 0 genome.wustl.edu 37 1 39799640 39799640 + Missense_Mutation SNP T T G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 39799640 39799640 T G SNP MACF1 ENST00000567887 human ensembl 69_37n +1 putative missense c.7491 p.I2497M 0.154 superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 322 0 0.00 213 29 11.98 - - - MGAM 0 genome.wustl.edu 37 7 141766522 141766522 + Splice_Site SNP G G C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 7 141766522 141766522 G C SNP MGAM ENST00000475668 human ensembl 69_37n +1 putative splice_site c.4919+1 e40+1 1.000 - - - no_errors MGAM HGNC ENSG00000257335 85 0 0.00 71 16 18.39 - - - MGAM 0 genome.wustl.edu 37 7 141802435 141802435 + Missense_Mutation SNP T T G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 7 141802435 141802435 T G SNP MGAM ENST00000549489 human ensembl 69_37n +1 known missense c.5281 p.Y1761D 0.818 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 77 0 0.00 56 22 28.21 - - - MTRR 0 genome.wustl.edu 37 5 7878078 7878078 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 5 7878078 7878078 G A SNP MTRR ENST00000510525 human ensembl 69_37n +1 known missense c.448 p.V150M 0.030 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_Flavodoxin/NO_synth,pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MTRR HGNC ENSG00000124275 118 0 0.00 125 19 13.10 - - - MYO1B 0 genome.wustl.edu 37 2 192250662 192250662 + Missense_Mutation SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 2 192250662 192250662 C A SNP MYO1B ENST00000304164 human ensembl 69_37n +1 known missense c.1406 p.T469K 0.985 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 389 0 0.00 317 53 14.32 - - - NAV2 0 genome.wustl.edu 37 11 20119207 20119207 + Missense_Mutation SNP C C G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 11 20119207 20119207 C G SNP NAV2 ENST00000396087 human ensembl 69_37n +1 known missense c.6274 p.R2092G 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 105 0 0.00 138 32 18.82 - - - NEDD9 0 genome.wustl.edu 37 6 11213899 11213899 + Missense_Mutation SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 6 11213899 11213899 C T SNP NEDD9 ENST00000379446 human ensembl 69_37n -1 known missense c.74 p.R25H 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 194 0 0.00 195 26 11.76 - - - NFASC 0 genome.wustl.edu 37 1 204966311 204966311 + Missense_Mutation SNP G G T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 204966311 204966311 G T SNP NFASC ENST00000367172 human ensembl 69_37n +1 known missense c.3117 p.L1039F 0.915 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC ENSG00000163531 28 0 0.00 51 8 13.33 - - - NKAPL 0 genome.wustl.edu 37 6 28227179 28227179 + Silent SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 6 28227179 28227179 C A SNP NKAPL ENST00000343684 human ensembl 69_37n +1 known silent c.30 p.S10 0.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 41 0 0.00 20 5 20.00 - - - NLRC5 0 genome.wustl.edu 37 16 57104491 57104491 + Missense_Mutation SNP T T C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 16 57104491 57104491 T C SNP NLRC5 ENST00000262510 human ensembl 69_37n +1 known missense c.4628 p.M1543T 0.371 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 26 0 0.00 20 4 16.67 - - - NMUR2 0 genome.wustl.edu 37 5 151777641 151777641 + Missense_Mutation SNP T T G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 5 151777641 151777641 T G SNP NMUR2 ENST00000255262 human ensembl 69_37n -1 known missense c.791 p.K264T 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 259 0 0.00 167 22 11.64 - - - OMA1 0 genome.wustl.edu 37 1 59004723 59004723 + Missense_Mutation SNP G G C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 59004723 59004723 G C SNP OMA1 ENST00000371226 human ensembl 69_37n -1 known missense c.244 p.L82V 0.000 NULL pfam_Peptidase_M48 - no_errors OMA1 HGNC ENSG00000162600 505 0 0.00 310 40 11.40 - - - OR10A7 0 genome.wustl.edu 37 12 55614826 55614826 + Missense_Mutation SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 12 55614826 55614826 C A SNP OR10A7 ENST00000326258 human ensembl 69_37n +1 known missense c.18 p.H6Q 0.179 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10A7 HGNC ENSG00000179919 536 0 0.00 456 96 17.39 - - - PCNT 0 genome.wustl.edu 37 21 47775512 47775512 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 21 47775512 47775512 G A SNP PCNT ENST00000359568 human ensembl 69_37n +1 known missense c.1907 p.R636H 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 27 0 0.00 24 5 17.24 - - - PCSK1 0 genome.wustl.edu 37 5 95746673 95746673 + Silent SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 5 95746673 95746673 C A SNP PCSK1 ENST00000311106 human ensembl 69_37n -1 known silent c.900 p.G300 0.986 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 277 1 0.36 149 31 17.03 - - - PMFBP1 0 genome.wustl.edu 37 16 72170703 72170703 + Missense_Mutation SNP G G T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 16 72170703 72170703 G T SNP PMFBP1 ENST00000537465 human ensembl 69_37n -1 known missense c.934 p.Q312K 0.774 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 87 0 0.00 45 14 23.73 - - - PPEF2 0 genome.wustl.edu 37 4 76782042 76782042 + Silent SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 4 76782042 76782042 G A SNP PPEF2 ENST00000286719 human ensembl 69_37n -1 known silent c.2040 p.T680 0.767 pirsf_Ser/Thr-Pase_EF-hand_contain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_HAND_2 - no_errors PPEF2 HGNC ENSG00000156194 178 0 0.00 123 15 10.87 - - - PPP5C 0 genome.wustl.edu 37 19 46890423 46890423 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 19 46890423 46890423 G A SNP PPP5C ENST00000478046 human ensembl 69_37n +1 known missense c.974 p.R325K 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5 pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PPP5C HGNC ENSG00000011485 42 0 0.00 46 7 13.21 - - - PRSS35 0 genome.wustl.edu 37 6 84233451 84233451 + Silent SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 6 84233451 84233451 G A SNP PRSS35 ENST00000369700 human ensembl 69_37n +1 known silent c.291 p.R97 0.026 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors PRSS35 HGNC ENSG00000146250 210 0 0.00 84 64 43.24 - - - PSG11 0 genome.wustl.edu 37 19 43530506 43530506 + Missense_Mutation SNP G G C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 19 43530506 43530506 G C SNP PSG11 ENST00000320078 human ensembl 69_37n -1 known missense c.19 p.P7A 0.010 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG11 HGNC ENSG00000243130 187 0 0.00 193 25 11.47 - - - RAPGEFL1 0 genome.wustl.edu 37 17 38345157 38345157 + Silent SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 17 38345157 38345157 G A SNP RAPGEFL1 ENST00000264644 human ensembl 69_37n +1 known silent c.255 p.K85 0.995 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RAPGEFL1 HGNC ENSG00000108352 23 0 0.00 34 8 19.05 - - - RBM23 0 genome.wustl.edu 37 14 23371049 23371049 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 14 23371049 23371049 G A SNP RBM23 ENST00000553884 human ensembl 69_37n -1 putative missense c.613 p.L205F 0.976 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RBM23 HGNC ENSG00000100461 452 0 0.00 484 60 11.01 - - - RINT1 0 genome.wustl.edu 37 7 105187507 105187507 + Missense_Mutation SNP A A T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 7 105187507 105187507 A T SNP RINT1 ENST00000257700 human ensembl 69_37n +1 known missense c.666 p.K222N 1.000 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 130 0 0.00 161 37 18.69 - - - SACS 0 genome.wustl.edu 37 13 23929666 23929666 + Frame_Shift_Del DEL T T - TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 13 23929666 23929666 T - DEL SACS ENST00000382292 human ensembl 69_37n -1 known frame_shift_del c.1085 p.K362fs 0.011 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 133 0 0.00 112 14 11.11 - - - SEMA7A 0 genome.wustl.edu 37 15 74707008 74707009 + Frame_Shift_Ins INS - - A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 15 74707008 74707009 - A INS SEMA7A ENST00000261918 human ensembl 69_37n -1 known frame_shift_ins c.1174_1173 p.E391fs 0.998:0.992 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA7A HGNC ENSG00000138623 46 0 0.00 30 10 25.00 - - - SIPA1L1 0 genome.wustl.edu 37 14 72055185 72055185 + Missense_Mutation SNP G G C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 14 72055185 72055185 G C SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known missense c.596 p.G199A 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 419 0 0.00 192 45 18.99 - - - SLC26A5 0 genome.wustl.edu 37 7 103051936 103051936 + Silent SNP G G T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 7 103051936 103051936 G T SNP SLC26A5 ENST00000306312 human ensembl 69_37n -1 known silent c.501 p.G167 0.272 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 247 0 0.00 168 20 10.64 - - - SLC35F2 0 genome.wustl.edu 37 11 107676086 107676086 + Missense_Mutation SNP G G T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 11 107676086 107676086 G T SNP SLC35F2 ENST00000429869 human ensembl 69_37n -1 known missense c.730 p.L244I 1.000 pfam_DUF914_euk,pfam_DMT,pfam_UAA,pfam_DUF250 pfam_DUF914_euk,pfam_DMT,pfam_UAA,pfam_DUF250 - no_errors SLC35F2 HGNC ENSG00000110660 131 0 0.00 153 52 25.37 - - - SLFN12L 0 genome.wustl.edu 37 17 33807026 33807026 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 17 33807026 33807026 G A SNP SLFN12L ENST00000449046 human ensembl 69_37n -1 known missense c.296 p.A99V 0.015 NULL pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 233 2 0.85 254 30 10.56 - - - SNAP47 0 genome.wustl.edu 37 1 227935803 227935803 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 227935803 227935803 G A SNP SNAP47 ENST00000426344 human ensembl 69_37n +1 known missense c.475 p.D159N 0.953 NULL pfscan_T_SNARE_dom - pseudogene:no_stop_codon:bad_bp_length_for_coding_region SNAP47 HGNC ENSG00000143740 59 0 0.00 57 26 31.33 - - - SNORD115-18 0 genome.wustl.edu 37 15 25448374 25448374 + RNA SNP G G T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 15 25448374 25448374 G T SNP SNORD115-18 ENST00000363293 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors SNORD115-18 HGNC ENSG00000200163 38 0 0.00 61 14 18.67 - - - SNX20 0 genome.wustl.edu 37 16 50707754 50707754 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 16 50707754 50707754 G A SNP SNX20 ENST00000330943 human ensembl 69_37n -1 known missense c.514 p.R172C 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 15 0 0.00 11 4 26.67 - - - STAT4 0 genome.wustl.edu 37 2 191931190 191931190 + Missense_Mutation SNP T T C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 2 191931190 191931190 T C SNP STAT4 ENST00000358470 human ensembl 69_37n -1 known missense c.596 p.Q199R 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 156 1 0.63 107 20 15.75 - - - SULT1A4 0 genome.wustl.edu 37 16 30212154 30212154 + Silent SNP A A G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 16 30212154 30212154 A G SNP SULT1A4 ENST00000338971 human ensembl 69_37n +1 known silent c.105 p.Q35 0.053 NULL pfam_Sulfotransferase_dom - no_errors SULT1A3 Clone_based_vega_gene ENSG00000261052 11 0 0.00 4 5 55.56 - - - SUPT16H 0 genome.wustl.edu 37 14 21831260 21831260 + Missense_Mutation SNP C C G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 14 21831260 21831260 C G SNP SUPT16H ENST00000216297 human ensembl 69_37n -1 known missense c.1444 p.A482P 1.000 NULL pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 212 0 0.00 255 31 10.84 - - - SYNE2 0 genome.wustl.edu 37 14 64519171 64519171 + Missense_Mutation SNP A A C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 14 64519171 64519171 A C SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.8540 p.Q2847P 0.715 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 220 0 0.00 131 22 14.38 - - - TEKT2 0 genome.wustl.edu 37 1 36550806 36550806 + Missense_Mutation SNP A A T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 36550806 36550806 A T SNP TEKT2 ENST00000207457 human ensembl 69_37n +1 known missense c.199 p.R67W 1.000 pfam_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC ENSG00000092850 53 0 0.00 27 12 30.77 - - - TMEM156 0 genome.wustl.edu 37 4 38990517 38990517 + Silent SNP A A C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 4 38990517 38990517 A C SNP TMEM156 ENST00000381938 human ensembl 69_37n -1 known silent c.693 p.T231 0.735 NULL NULL - no_errors TMEM156 HGNC ENSG00000121895 310 0 0.00 284 39 12.07 - - - TMTC2 0 genome.wustl.edu 37 12 83359523 83359523 + Silent SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 12 83359523 83359523 G A SNP TMTC2 ENST00000321196 human ensembl 69_37n +1 known silent c.1869 p.E623 1.000 pfam_TPR-1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 292 1 0.34 188 41 17.90 - - - TPP1 0 genome.wustl.edu 37 11 6638634 6638634 + Frame_Shift_Del DEL C C - TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 11 6638634 6638634 C - DEL TPP1 ENST00000299427 human ensembl 69_37n -1 known frame_shift_del c.406 p.A136fs 1.000 pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 100 0 0.00 72 24 25.00 - - - TRIM29 0 genome.wustl.edu 37 11 120008036 120008036 + Missense_Mutation SNP A A C TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 11 120008036 120008036 A C SNP TRIM29 ENST00000341846 human ensembl 69_37n -1 known missense c.704 p.F235C 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 64 0 0.00 44 9 16.98 - - - TRIM46 0 genome.wustl.edu 37 1 155150624 155150624 + Silent SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 155150624 155150624 G A SNP TRIM46 ENST00000334634 human ensembl 69_37n +1 known silent c.1056 p.E352 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 41 0 0.00 58 19 24.68 - - - TRIM46 0 genome.wustl.edu 37 1 155150625 155150625 + Missense_Mutation SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 155150625 155150625 C T SNP TRIM46 ENST00000334634 human ensembl 69_37n +1 known missense c.1057 p.H353Y 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 41 0 0.00 57 20 25.97 - - - TRPM6 0 genome.wustl.edu 37 9 77377214 77377214 + Missense_Mutation SNP G G A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 9 77377214 77377214 G A SNP TRPM6 ENST00000451710 human ensembl 69_37n -1 known missense c.4373 p.S1458L 0.999 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 331 0 0.00 182 30 14.15 - - - USP34 0 genome.wustl.edu 37 2 61492665 61492665 + Nonsense_Mutation SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 2 61492665 61492665 C T SNP USP34 ENST00000398571 human ensembl 69_37n -1 known nonsense c.5645 p.W1882* 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 328 0 0.00 250 34 11.97 - - - VPS13C 0 genome.wustl.edu 37 15 62242616 62242616 + Missense_Mutation SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 15 62242616 62242616 C A SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.4537 p.A1513S 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 197 0 0.00 87 10 10.20 - - - VWA3B 0 genome.wustl.edu 37 2 98928506 98928507 + Frame_Shift_Ins INS - - G TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 2 98928506 98928507 - G INS VWA3B ENST00000473149 human ensembl 69_37n +1 putative frame_shift_ins c.1977_1978 p.T662fs 0.000:0.004 NULL pfscan_VWF_A - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VWA3B HGNC ENSG00000168658 30 0 0.00 25 5 16.67 - - - WBP11P1 0 genome.wustl.edu 37 18 30093381 30093381 + RNA SNP C C A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 18 30093381 30093381 C A SNP WBP11P1 ENST00000567636 human ensembl 69_37n +1 known rna NULL NULL 0.976 - - - no_errors WBP11P1 HGNC ENSG00000260389 120 0 0.00 145 18 11.04 - - - WWC3 0 genome.wustl.edu 37 X 10062266 10062266 + Missense_Mutation SNP C C T TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 X 10062266 10062266 C T SNP WWC3 ENST00000380861 human ensembl 69_37n +1 known missense c.602 p.A201V 0.595 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC ENSG00000047644 129 0 0.00 89 25 21.93 - - - ZNF644 0 genome.wustl.edu 37 1 91405516 91405516 + Missense_Mutation SNP T T A TCGA-A8-A09A-01A-11W-A019-09 TCGA-A8-A09A-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ecfedc29-5c31-4d3d-b599-fc0a1c0beafa c3017ca7-a84a-4cc3-9eb0-0336f130be31 1 91405516 91405516 T A SNP ZNF644 ENST00000337393 human ensembl 69_37n -1 known missense c.1395 p.K465N 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 194 0 0.00 162 53 24.65 - - -